Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error AGL 178 genome.wustl.edu 36 1 100122272 100122272 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 100122272 100122272 G A SNP AGL NM_000028 human genbank 54_36p 1 validated missense c.2317 p.E773K 1 NULL "superfamily_(Trans)glycosidases,HMMPfam_GDE_C,superfamily_Six-hairpin glycosidases" - no_errors SASS6 163786 genome.wustl.edu 36 1 100345785 100345785 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 100345785 100345785 G A SNP SASS6 NM_194292 human genbank 54_36p -1 validated missense c.1133 p.A378V 1 NULL NULL - no_errors LRRC39 127495 genome.wustl.edu 36 1 100390656 100390656 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 100390656 100390656 G A SNP LRRC39 NM_144620 human genbank 54_36p -1 provisional silent c.825 p.F275 1 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors UBE4B 10277 genome.wustl.edu 36 1 10161345 10161345 + Silent SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 10161345 10161345 G C SNP UBE4B NM_001105562 human genbank 54_36p 1 reviewed silent c.3582 p.G1194 0.97 HMMPfam_Ufd2P_core "HMMPfam_Ufd2P_core,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00504" - no_errors OLFM3 118427 genome.wustl.edu 36 1 102042416 102042416 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 102042416 102042416 A C SNP OLFM3 NM_058170 human genbank 54_36p -1 validated missense c.1343 p.L448R 1 "HMMPfam_OLF,HMMSmart_SM00284" "HMMPfam_OLF,HMMSmart_SM00284" - no_errors OLFM3 118427 genome.wustl.edu 36 1 102063368 102063368 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 102063368 102063368 C G SNP OLFM3 NM_058170 human genbank 54_36p -1 validated missense c.394 p.E132Q 1 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors COL11A1 1301 genome.wustl.edu 36 1 103119897 103119897 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 103119897 103119897 A T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.5020 p.S1674T 1 "HMMSmart_COLFI,HMMPfam_COLFI" "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI" - no_errors COL11A1 1301 genome.wustl.edu 36 1 103264008 103264008 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 103264008 103264008 T A SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.869 p.E290V 1 NULL "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors KIF1B 23095 genome.wustl.edu 36 1 10347892 10347892 + Splice_Site SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 10347892 10347892 T C SNP KIF1B NM_015074 human genbank 54_36p 1 reviewed splice_site c.4374+2 e39+2 1 - - - no_errors AMY2A 279 genome.wustl.edu 36 1 103968324 103968324 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 103968324 103968324 G T SNP AMY2A NM_000699 human genbank 54_36p 1 reviewed missense c.1304 p.G435V 1 "superfamily_SSF51011,HMMSmart_Aamy_C,HMMPfam_Alpha-amylase_C" "superfamily_Glyco_hydro_cat,HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_SSF51011,HMMSmart_Aamy_C,HMMPfam_Alpha-amylase_C" - no_errors LOC100129138 100129138 genome.wustl.edu 36 1 104417150 104417150 + RNA SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 104417150 104417150 C T SNP LOC100129138 XR_036957 human genbank 54_36p 1 model rna NULL NULL 0.92 - - - no_errors LOC126987 126987 genome.wustl.edu 36 1 106424948 106424948 + RNA SNP A T T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 106424948 106424948 A T SNP LOC126987 XR_016153 human genbank 54_36p -1 model rna NULL NULL 0.25 - - - no_errors NTNG1 22854 genome.wustl.edu 36 1 107669038 107669038 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 107669038 107669038 C G SNP NTNG1 NM_014917 human genbank 54_36p 1 provisional nonsense c.858 p.Y286* 1 "HMMPfam_Laminin_N,HMMSmart_LamNT" "HMMPfam_Laminin_N,HMMSmart_LamNT,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,HMMSmart_EGF,HMMPfam_EGF_2" - no_errors VAV3 10451 genome.wustl.edu 36 1 108114816 108114816 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 108114816 108114816 C A SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed nonsense c.613 p.E205* 1 "superfamily_Calponin-homology domain CH-domain,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors SLC25A24 29957 genome.wustl.edu 36 1 108499178 108499178 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 108499178 108499178 C T SNP SLC25A24 NM_013386 human genbank 54_36p -1 validated missense c.772 p.V258I 1 "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" - no_errors C1orf59 113802 genome.wustl.edu 36 1 108998946 108998946 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 108998946 108998946 T G SNP C1orf59 NM_001102592 human genbank 54_36p -1 validated missense c.313 p.N105H 0 superfamily_SSF53335 superfamily_SSF53335 - no_errors C1orf59 113802 genome.wustl.edu 36 1 109001645 109001645 + Missense_Mutation SNP T T A rs11540221 Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109001645 109001645 T A SNP C1orf59 NM_001102592 human genbank 54_36p -1 validated missense c.101 p.Q34L 1 superfamily_SSF53335 superfamily_SSF53335 - no_errors STXBP3 6814 genome.wustl.edu 36 1 109116808 109116808 + Splice_Site SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109116808 109116808 A T SNP STXBP3 NM_007269 human genbank 54_36p 1 validated splice_site c.439-2 e7-2 1 - - - no_errors STXBP3 6814 genome.wustl.edu 36 1 109123502 109123502 + Silent SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109123502 109123502 G C SNP STXBP3 NM_007269 human genbank 54_36p 1 validated silent c.756 p.L252 1 "superfamily_Sec1-like,HMMPfam_Sec1" "superfamily_Sec1-like,HMMPfam_Sec1" - no_errors AKNAD1 254268 genome.wustl.edu 36 1 109193134 109193136 + In_Frame_Del DEL AAG AAG - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 AAG AAG AAG - AAG AAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109193134 109193136 AAG - DEL C1orf62 NM_152763 human genbank 54_36p -1 validated in_frame_del c.1105_1103 p.S368in_frame_del 0.633:0.633:0.697 NULL NULL "(deletion:cds_exon[109193057,109193205])" no_errors AKNAD1 254268 genome.wustl.edu 36 1 109196288 109196288 + Silent SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109196288 109196288 C T SNP C1orf62 NM_152763 human genbank 54_36p -1 validated silent c.522 p.P174 0 NULL NULL - no_errors C1orf127 148345 genome.wustl.edu 36 1 10940267 10940267 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 10940267 10940267 C G SNP C1orf127 NM_173507 human genbank 54_36p -1 predicted missense c.239 p.R80T 0.1 NULL NULL - no_errors C1orf194 127003 genome.wustl.edu 36 1 109457783 109457783 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109457783 109457783 C A SNP C1orf194 ENST00000369949 human ensembl 54_36p -1 known missense c.40 p.A14S 0.02 NULL NULL - no_errors KIAA1324 57535 genome.wustl.edu 36 1 109547330 109547330 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 109547330 109547330 T C SNP KIAA1324 ENST00000369939 human ensembl 54_36p 1 known missense c.2773 p.C925R 0.97 NULL "superfamily_Grow_fac_recept,superfamily_Man6php_recept" - no_stop_codon MYBPHL 343263 genome.wustl.edu 36 1 109641076 109641076 + Silent SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109641076 109641076 C T SNP MYBPHL NM_001010985 human genbank 54_36p -1 validated silent c.582 p.T194 0.14 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ATXN7L2 127002 genome.wustl.edu 36 1 109835204 109835204 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109835204 109835204 C T SNP ATXN7L2 NM_153340 human genbank 54_36p 1 validated missense c.1496 p.P499L 0.53 NULL HMMPfam_SCA7 - no_errors TARDBP 23435 genome.wustl.edu 36 1 11001432 11001432 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11001432 11001432 C T SNP TARDBP NM_007375 human genbank 54_36p 1 reviewed missense c.458 p.T153M 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors TARDBP 23435 genome.wustl.edu 36 1 11005039 11005039 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11005039 11005039 C T SNP TARDBP NM_007375 human genbank 54_36p 1 reviewed missense c.986 p.A329V 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors FAM40A 85369 genome.wustl.edu 36 1 110389166 110389166 + Silent SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 110389166 110389166 G A SNP FAM40A NM_033088 human genbank 54_36p 1 validated silent c.1359 p.T453 0.79 NULL HMMPfam_N1221 - no_errors FAM40A 85369 genome.wustl.edu 36 1 110390856 110390856 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110390856 110390856 C T SNP FAM40A NM_033088 human genbank 54_36p 1 validated missense c.1448 p.A483V 0.95 NULL HMMPfam_N1221 - no_errors UBL4B 164153 genome.wustl.edu 36 1 110456870 110456870 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110456870 110456870 A G SNP UBL4B NM_203412 human genbank 54_36p 1 validated missense c.191 p.N64S 0.96 "HMMSmart_UBQ,superfamily_SSF54236,HMMPfam_ubiquitin" "PatternScan_UBIQUITIN_1,HMMSmart_UBQ,superfamily_SSF54236,HMMPfam_ubiquitin" - no_errors SLC6A17 388662 genome.wustl.edu 36 1 110539769 110539780 + In_Frame_Del DEL TTCGTCCAGCGC TTCGTCCAGCGC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TTCGTCCAGCGC TTCGTCCAGCGC TTCGTCCAGCGC - TTCGTCCAGCGC TTCGTCCAGCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110539769 110539780 TTCGTCCAGCGC - DEL SLC6A17 NM_001010898 human genbank 54_36p 1 validated in_frame_del c.1531_1542 p.FVQR511in_frame_del 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.996 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" "(deletion:cds_exon[110539731,110539890])" no_errors RBM15 64783 genome.wustl.edu 36 1 110689748 110689748 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110689748 110689748 G A SNP RBM15 NM_022768 human genbank 54_36p 1 validated silent c.2928 p.L976 0 NULL "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,superfamily_SPOC domain-like,HMMPfam_SPOC" - no_errors SLC16A4 9122 genome.wustl.edu 36 1 110725182 110725182 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110725182 110725182 C T SNP SLC16A4 NM_004696 human genbank 54_36p -1 provisional silent c.471 p.L157 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC16A4 9122 genome.wustl.edu 36 1 110725868 110725868 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110725868 110725868 G A SNP SLC16A4 NM_004696 human genbank 54_36p -1 provisional missense c.293 p.T98I 0.98 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors KCNA10 3744 genome.wustl.edu 36 1 110862267 110862267 + Silent SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110862267 110862267 C G SNP KCNA10 NM_005549 human genbank 54_36p -1 reviewed silent c.666 p.S222 0.16 superfamily_SSF81324 "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA10 3744 genome.wustl.edu 36 1 110862818 110862818 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110862818 110862818 C G SNP KCNA10 NM_005549 human genbank 54_36p -1 reviewed missense c.115 p.G39R 0.22 NULL "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KCNA2 3737 genome.wustl.edu 36 1 110948093 110948093 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110948093 110948093 C G SNP KCNA2 NM_004974 human genbank 54_36p -1 reviewed missense c.835 p.E279Q 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA3 3738 genome.wustl.edu 36 1 111017553 111017553 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111017553 111017553 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.1402 p.G468S 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA3 3738 genome.wustl.edu 36 1 111018078 111018078 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111018078 111018078 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.877 p.D293N 1 superfamily_SSF81324 "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KCNA3 3738 genome.wustl.edu 36 1 111018156 111018156 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111018156 111018156 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.799 p.A267T 0.05 superfamily_SSF81324 "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors C1orf103 55791 genome.wustl.edu 36 1 111292268 111292268 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111292268 111292268 G C SNP C1orf103 NM_018372 human genbank 54_36p -1 validated missense c.2146 p.Q716E 0.69 NULL NULL - no_errors C1orf103 55791 genome.wustl.edu 36 1 111295733 111295733 + Silent SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111295733 111295733 G C SNP C1orf103 NM_018372 human genbank 54_36p -1 validated silent c.1296 p.T432 0 NULL NULL - no_errors DENND2D 79961 genome.wustl.edu 36 1 111543793 111543793 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111543793 111543793 G T SNP DENND2D NM_024901 human genbank 54_36p -1 provisional missense c.218 p.P73H 1 "HMMPfam_uDENN,HMMSmart_SM00800" "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801" - no_errors CHIA 27159 genome.wustl.edu 36 1 111662823 111662823 + Silent SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111662823 111662823 G A SNP CHIA NM_201653 human genbank 54_36p 1 validated silent c.915 p.E305 1 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18,superfamily_Chitinase insertion domain,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins,HMMPfam_CBM_14" - no_errors OVGP1 5016 genome.wustl.edu 36 1 111759162 111759162 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111759162 111759162 G A SNP OVGP1 NM_002557 human genbank 54_36p -1 reviewed missense c.1484 p.T495I 0 NULL "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" - no_errors OVGP1 5016 genome.wustl.edu 36 1 111770772 111770772 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111770772 111770772 G C SNP OVGP1 NM_002557 human genbank 54_36p -1 reviewed missense c.70 p.L24V 1 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" - no_errors C1orf162 128346 genome.wustl.edu 36 1 111822162 111822162 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111822162 111822162 C T SNP C1orf162 NM_174896 human genbank 54_36p 1 predicted missense c.362 p.A121V 0.01 NULL NULL - no_errors ADORA3 140 genome.wustl.edu 36 1 111844530 111844530 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111844530 111844530 C A SNP ADORA3 NM_000677 human genbank 54_36p -1 reviewed missense c.522 p.M174I 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ADORA3 140 genome.wustl.edu 36 1 111847261 111847261 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111847261 111847261 A T SNP ADORA3 NM_020683 human genbank 54_36p -1 reviewed missense c.239 p.F80Y 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF48726" - no_errors C1orf183 55924 genome.wustl.edu 36 1 112071729 112071729 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 112071729 112071729 G C SNP C1orf183 NM_019099 human genbank 54_36p -1 validated missense c.278 p.P93R 0.05 NULL NULL - no_errors KCND3 3752 genome.wustl.edu 36 1 112131149 112131149 + Silent SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 112131149 112131149 A G SNP KCND3 NM_004980 human genbank 54_36p -1 reviewed silent c.1209 p.V403 0.98 superfamily_Voltage-gated potassium channels "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors MOV10 4343 genome.wustl.edu 36 1 113034079 113034079 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 113034079 113034079 G A SNP MOV10 NM_020963 human genbank 54_36p 1 validated silent c.672 p.S224 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ER_TARGET" - no_errors MOV10 4343 genome.wustl.edu 36 1 113040590 113040590 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113040590 113040590 C T SNP MOV10 NM_020963 human genbank 54_36p 1 validated missense c.1892 p.S631L 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "PatternScan_ER_TARGET,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AKR7A2P1 246182 genome.wustl.edu 36 1 113268153 113268153 + RNA SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113268153 113268153 G C SNP AFARP1 NR_002796 human genbank 54_36p 1 provisional rna NULL NULL 0.81 - - - pseudogene LRIG2 9860 genome.wustl.edu 36 1 113442849 113442849 + Splice_Site SNP G G A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113442849 113442849 G A SNP LRIG2 NM_014813 human genbank 54_36p 1 provisional splice_site c.1092-1 e9-1 1 - - - no_errors LRIG2 9860 genome.wustl.edu 36 1 113458810 113458810 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113458810 113458810 G A SNP LRIG2 NM_014813 human genbank 54_36p 1 provisional silent c.2319 p.G773 0.98 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF52047,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMPfam_I-set,HMMSmart_IGc2" - no_errors PHTF1 10745 genome.wustl.edu 36 1 114050766 114050766 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114050766 114050766 C A SNP PHTF1 NM_006608 human genbank 54_36p -1 validated missense c.1371 p.L457F 1 NULL NULL - no_errors BCL2L15 440603 genome.wustl.edu 36 1 114230738 114230738 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114230738 114230738 T G SNP BCL2L15 NM_001010922 human genbank 54_36p -1 validated missense c.193 p.N65H 0.96 NULL NULL - no_errors AP4B1 10717 genome.wustl.edu 36 1 114244294 114244294 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114244294 114244294 C T SNP AP4B1 NM_006594 human genbank 54_36p -1 validated missense c.869 p.R290H 0.98 "superfamily_ARM-type_fold,HMMPfam_Adaptin_N" "superfamily_ARM-type_fold,HMMPfam_Adaptin_N,HMMPfam_B2-adapt-app_C" - no_errors AP4B1 10717 genome.wustl.edu 36 1 114245902 114245902 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114245902 114245902 A C SNP AP4B1 NM_006594 human genbank 54_36p -1 validated missense c.467 p.V156G 1 "HMMPfam_Adaptin_N,superfamily_ARM-type_fold" "HMMPfam_Adaptin_N,HMMPfam_B2-adapt-app_C,superfamily_ARM-type_fold" - no_errors HIPK1 204851 genome.wustl.edu 36 1 114284738 114284738 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114284738 114284738 C G SNP HIPK1 NM_198268 human genbank 54_36p 1 reviewed nonsense c.210 p.Y70* 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors HIPK1 204851 genome.wustl.edu 36 1 114285144 114285144 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114285144 114285144 A G SNP HIPK1 NM_198268 human genbank 54_36p 1 reviewed missense c.616 p.K206E 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors SYT6 148281 genome.wustl.edu 36 1 114441903 114441903 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114441903 114441903 G C SNP SYT6 NM_205848 human genbank 54_36p -1 validated missense c.1229 p.S410C 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYT6 148281 genome.wustl.edu 36 1 114443407 114443407 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114443407 114443407 G C SNP SYT6 NM_205848 human genbank 54_36p -1 validated missense c.941 p.P314R 1 "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors AMPD1 270 genome.wustl.edu 36 1 115019836 115019836 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 115019836 115019836 A G SNP AMPD1 NM_000036 human genbank 54_36p -1 reviewed missense c.1517 p.I506T 1 "superfamily_SSF51556,HMMPfam_A_deaminase" "superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE" - no_errors AMPD1 270 genome.wustl.edu 36 1 115033075 115033075 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 115033075 115033075 T C SNP AMPD1 ENST00000393268 human ensembl 54_36p -1 known missense c.4 p.I2V 0.05 NULL "HMMPfam_A_deaminase,PatternScan_A_DEAMINASE,superfamily_Metallo-dependent hydrolases" - no_start_codon CSDE1 7812 genome.wustl.edu 36 1 115083932 115083932 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 115083932 115083932 T G SNP CSDE1 NM_001007553 human genbank 54_36p -1 validated missense c.103 p.T35P 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357" "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK,PatternScan_PEROXIDASE_2" - no_errors PTCHD2 57540 genome.wustl.edu 36 1 11518272 11518272 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11518272 11518272 C T SNP PTCHD2 NM_020780 human genbank 54_36p 1 validated missense c.3800 p.P1267L 1 "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors SLC22A15 55356 genome.wustl.edu 36 1 116363787 116363787 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116363787 116363787 G C SNP SLC22A15 NM_018420 human genbank 54_36p 1 validated missense c.326 p.G109A 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" - no_errors ATP1A1 476 genome.wustl.edu 36 1 116734487 116734487 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116734487 116734487 C T SNP ATP1A1 NM_000701 human genbank 54_36p 1 reviewed missense c.1153 p.R385W 1 "superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like,HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N" ############################################################################################################################################################################################################################################################### - no_errors IGSF3 3321 genome.wustl.edu 36 1 116933217 116933217 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116933217 116933217 T C SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.2122 p.T708A 1 "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig" - no_errors IGSF3 3321 genome.wustl.edu 36 1 116960585 116960585 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116960585 116960585 G A SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.61 p.R21W 1 "HMMPfam_V-set,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726" - no_errors GDAP2 54834 genome.wustl.edu 36 1 118222153 118222153 + Splice_Site SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 118222153 118222153 C T SNP GDAP2 NM_017686 human genbank 54_36p -1 validated splice_site c.1446+1 e12+1 1 - - - no_errors SPAG17 200162 genome.wustl.edu 36 1 118307999 118307999 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 118307999 118307999 T C SNP SPAG17 NM_206996 human genbank 54_36p -1 validated silent c.6618 p.T2206 0.17 NULL NULL - no_errors NPPB 4879 genome.wustl.edu 36 1 11841068 11841068 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11841068 11841068 C A SNP NPPB NM_002521 human genbank 54_36p -1 reviewed nonsense c.178 p.E60* 0 HMMPfam_ANP "HMMPfam_ANP,HMMSmart_NAT_PEP,PatternScan_NATRIURETIC_PEPTIDE" - no_errors PLOD1 5351 genome.wustl.edu 36 1 11939569 11939569 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11939569 11939569 G A SNP PLOD1 NM_000302 human genbank 54_36p 1 reviewed missense c.652 p.V218M 0.99 NULL "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE" - no_errors PLOD1 5351 genome.wustl.edu 36 1 11946867 11946867 + Silent SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 11946867 11946867 C T SNP PLOD1 NM_000302 human genbank 54_36p 1 reviewed silent c.1251 p.N417 1 NULL "PatternScan_LYS_HYDROXYLASE,HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc" - no_errors LOC343495 343495 genome.wustl.edu 36 1 119563486 119563486 + RNA SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119563486 119563486 C T SNP LOC343495 XR_016540 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene HSD3B2 3284 genome.wustl.edu 36 1 119766708 119766708 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119766708 119766708 A T SNP HSD3B2 NM_000198 human genbank 54_36p 1 validated missense c.1061 p.E354V 0.8 superfamily_NAD(P)-binding Rossmann-fold domains "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3Beta_HSD" - no_errors LOC391073 391073 genome.wustl.edu 36 1 119778664 119778664 + RNA SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119778664 119778664 G T SNP LOC391073 XR_016552 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC391075 391075 genome.wustl.edu 36 1 119806459 119806459 + RNA SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119806459 119806459 A T SNP LOC391075 XR_016557 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene HSD3B1 3283 genome.wustl.edu 36 1 119858714 119858714 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119858714 119858714 G T SNP HSD3B1 NM_000862 human genbank 54_36p 1 validated missense c.1045 p.A349S 1 superfamily_NAD(P)-bd "superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD" - no_errors MFN2 9927 genome.wustl.edu 36 1 11988549 11988549 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11988549 11988549 C T SNP MFN2 NM_014874 human genbank 54_36p 1 reviewed missense c.1690 p.R564W 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin" - no_errors LOC391081 391081 genome.wustl.edu 36 1 119953103 119953103 + RNA SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119953103 119953103 T A SNP LOC391081 XR_017445 human genbank 54_36p 1 model rna NULL NULL 0.07 - - - pseudogene ZNF697 90874 genome.wustl.edu 36 1 119970088 119970088 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119970088 119970088 C T SNP ZNF697 NM_001080470 human genbank 54_36p -1 provisional silent c.159 p.P53 0 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors HMGCS2 3158 genome.wustl.edu 36 1 120097460 120097460 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 120097460 120097460 G A SNP HMGCS2 NM_005518 human genbank 54_36p -1 validated silent c.1260 p.F420 0.96 "HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like" "HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like,PatternScan_HMG_COA_SYNTHASE,HMMPfam_HMG_CoA_synt_C" - no_errors MIIP 60672 genome.wustl.edu 36 1 12012533 12012533 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 12012533 12012533 C T SNP IIP45 NM_021933 human genbank 54_36p 1 validated silent c.840 p.H280 0.32 NULL NULL - no_errors REG4 83998 genome.wustl.edu 36 1 120138772 120138772 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 120138772 120138772 G A SNP REG4 NM_032044 human genbank 54_36p -1 validated nonsense c.469 p.R157* 0.02 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors NOTCH2 4853 genome.wustl.edu 36 1 120292618 120292618 + Silent SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 120292618 120292618 T C SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed silent c.2694 p.E898 0.71 "superfamily_SSF57196,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors PRAMEF12 390999 genome.wustl.edu 36 1 12757692 12757692 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 12757692 12757692 C G SNP PRAMEF12 NM_001080830 human genbank 54_36p 1 provisional missense c.95 p.P32R 0.18 NULL superfamily_SSF52047 - no_errors PRAMEF12 390999 genome.wustl.edu 36 1 12759868 12759868 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 12759868 12759868 C A SNP PRAMEF12 NM_001080830 human genbank 54_36p 1 provisional missense c.991 p.L331M 0.03 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF4 400735 genome.wustl.edu 36 1 12864794 12864794 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 12864794 12864794 A G SNP PRAMEF4 NM_001009611 human genbank 54_36p -1 validated missense c.343 p.W115R 0.09 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF20 645425 genome.wustl.edu 36 1 13615538 13615538 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 13615538 13615538 G C SNP PRAMEF20 NM_001099852 human genbank 54_36p 1 provisional missense c.140 p.R47T 0 superfamily_SSF52047 superfamily_SSF52047 - no_errors PPIAL4G 644591 genome.wustl.edu 36 1 142558964 142558964 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 142558964 142558964 C T SNP PPIAL4G ENST00000369380 human ensembl 54_36p -1 known silent c.408 p.V136 1 "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase" "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors NOTCH2NL 388677 genome.wustl.edu 36 1 143984619 143984619 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 143984619 143984619 C A SNP NOTCH2NL NM_203458 human genbank 54_36p 1 validated missense c.116 p.T39N 1 "HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF" "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL" - no_errors TXNIP 10628 genome.wustl.edu 36 1 144151420 144151420 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144151420 144151420 A G SNP TXNIP NM_006472 human genbank 54_36p 1 validated missense c.497 p.K166R 1 superfamily_Ig_E-set "superfamily_Ig_E-set,HMMPfam_Arrestin_N,HMMPfam_Arrestin_C" - no_errors TXNIP 10628 genome.wustl.edu 36 1 144151427 144151427 + Silent SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144151427 144151427 T A SNP TXNIP NM_006472 human genbank 54_36p 1 validated silent c.504 p.V168 1 superfamily_Ig_E-set "HMMPfam_Arrestin_N,HMMPfam_Arrestin_C,superfamily_Ig_E-set" - no_errors LIX1L 128077 genome.wustl.edu 36 1 144209961 144209961 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 144209961 144209961 G C SNP LIX1L NM_153713 human genbank 54_36p 1 provisional missense c.840 p.W280C 1 NULL NULL - no_errors ITGA10 8515 genome.wustl.edu 36 1 144247129 144247129 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 144247129 144247129 G C SNP ITGA10 NM_003637 human genbank 54_36p 1 reviewed missense c.1960 p.V654L 0 "HMMSmart_SM00191,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144272487 144272487 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144272487 144272487 C G SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.818 p.P273R 0.45 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144273633 144273633 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144273633 144273633 A T SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.1964 p.E655V 0.51 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors POLR3C 10623 genome.wustl.edu 36 1 144319562 144319562 + Silent SNP A A G novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144319562 144319562 A G SNP POLR3C NM_006468 human genbank 54_36p -1 provisional silent c.492 p.P164 0.09 HMMPfam_RNA_pol_Rpc82 "HMMPfam_RNA_pol_Rpc82,HMMPfam_HTH_9" - no_errors FMO5 2330 genome.wustl.edu 36 1 145163196 145163196 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G T G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 145163196 145163196 G T SNP FMO5 NM_001461 human genbank 54_36p -1 reviewed missense c.50 p.S17Y 0.01 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors CHD1L 9557 genome.wustl.edu 36 1 145233735 145233735 + Splice_Site SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145233735 145233735 G A SNP CHD1L NM_004284 human genbank 54_36p 1 validated splice_site c.2616-1 e23-1 1 - - - no_errors BCL9 607 genome.wustl.edu 36 1 145558344 145558344 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C G C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA dbGAP Illumina GAIIx 1 145558344 145558344 C G SNP BCL9 NM_004326 human genbank 54_36p 1 reviewed missense c.1759 p.L587V 1 NULL NULL - no_errors BCL9 607 genome.wustl.edu 36 1 145559255 145559255 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145559255 145559255 G T SNP BCL9 NM_004326 human genbank 54_36p 1 reviewed silent c.2670 p.S890 0.97 NULL NULL - no_errors ACP6 51205 genome.wustl.edu 36 1 145593003 145593004 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 - - - A - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 145593003 145593004 - A INS ACP6 NM_016361 human genbank 54_36p -1 validated frame_shift_ins c.710_709 p.D237fs 0.040:0.058 "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A" "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1" - no_errors ACP6 51205 genome.wustl.edu 36 1 145593008 145593008 + Silent SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145593008 145593008 C A SNP ACP6 NM_016361 human genbank 54_36p -1 validated silent c.705 p.V235 0.78 "HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like" "HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1,superfamily_Phosphoglycerate mutase-like" - no_errors ACP6 51205 genome.wustl.edu 36 1 145598404 145598404 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145598404 145598404 G A SNP ACP6 NM_016361 human genbank 54_36p -1 validated silent c.330 p.Y110 0.36 "HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like" "HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1,superfamily_Phosphoglycerate mutase-like" - no_errors GJA8 2703 genome.wustl.edu 36 1 145847875 145847875 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145847875 145847875 A G SNP GJA8 NM_005267 human genbank 54_36p 1 validated missense c.1169 p.K390R 0.44 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin50" - no_errors HIST2H3PS2 440686 genome.wustl.edu 36 1 147667142 147667142 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 147667142 147667142 G A SNP HIST2H3PS2 ENST00000369176 human ensembl 54_36p -1 known missense c.25 p.R9C 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_H3,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors FCGR1A 2209 genome.wustl.edu 36 1 148028407 148028407 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148028407 148028407 T C SNP FCGR1A NM_000566 human genbank 54_36p 1 reviewed missense c.733 p.Y245H 0.58 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors HIST2H2BE 8349 genome.wustl.edu 36 1 148124586 148124586 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148124586 148124586 C G SNP HIST2H2BE NM_003528 human genbank 54_36p -1 reviewed missense c.229 p.E77Q 1 "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone" "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST2H2AB 317772 genome.wustl.edu 36 1 148125788 148125788 + Silent SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148125788 148125788 G T SNP HIST2H2AB NM_175065 human genbank 54_36p -1 reviewed silent c.303 p.V101 1 "superfamily_Histone-fold,HMMSmart_H2A" "superfamily_Histone-fold,HMMSmart_H2A,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors BOLA1 51027 genome.wustl.edu 36 1 148138293 148138293 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148138293 148138293 G C SNP BOLA1 NM_016074 human genbank 54_36p 1 validated missense c.57 p.L19F 0.05 superfamily_BolA-like "superfamily_BolA-like,HMMPfam_BolA" - no_errors SV2A 9900 genome.wustl.edu 36 1 148147385 148147385 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148147385 148147385 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated missense c.1362 p.W454C 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_2" - no_errors SV2A 9900 genome.wustl.edu 36 1 148147730 148147730 + Silent SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148147730 148147730 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.1197 p.T399 0.01 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SV2A 9900 genome.wustl.edu 36 1 148147977 148147977 + Silent SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148147977 148147977 T G SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.1179 p.S393 0.99 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SV2A 9900 genome.wustl.edu 36 1 148149002 148149002 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148149002 148149002 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated missense c.955 p.G319W 1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SV2A 9900 genome.wustl.edu 36 1 148151531 148151531 + Silent SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148151531 148151531 G A SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.486 p.G162 1 superfamily_MFS general substrate transporter "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors MTMR11 10903 genome.wustl.edu 36 1 148174218 148174218 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148174218 148174218 C G SNP MTMR11 ENST00000361405 human ensembl 54_36p -1 known missense c.84 p.E28D 1 superfamily_PH domain-like superfamily_PH domain-like - no_start_codon CA14 23632 genome.wustl.edu 36 1 148501180 148501180 + Splice_Site SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148501180 148501180 G A SNP CA14 NM_012113 human genbank 54_36p 1 reviewed splice_site c.257-1 e4-1 1 - - - no_errors APH1A 51107 genome.wustl.edu 36 1 148507029 148507029 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148507029 148507029 G C SNP APH1A NM_001077628 human genbank 54_36p -1 validated missense c.236 p.S79C 1 HMMPfam_Aph-1 HMMPfam_Aph-1 - no_errors PRPF3 9129 genome.wustl.edu 36 1 148574237 148574237 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148574237 148574237 C A SNP PRPF3 NM_004698 human genbank 54_36p 1 reviewed missense c.936 p.D312E 1 HMMPfam_PRP3 "superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI,HMMPfam_PRP3" - no_errors ADAMTSL4 54507 genome.wustl.edu 36 1 148794658 148794658 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148794658 148794658 G A SNP ADAMTSL4 NM_019032 human genbank 54_36p 1 reviewed missense c.1364 p.R455H 0.94 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors GOLPH3L 55204 genome.wustl.edu 36 1 148900984 148900984 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148900984 148900984 A T SNP GOLPH3L NM_018178 human genbank 54_36p -1 reviewed missense c.360 p.D120E 1 HMMPfam_GPP34 HMMPfam_GPP34 - no_errors HORMAD1 84072 genome.wustl.edu 36 1 148945692 148945692 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148945692 148945692 C G SNP HORMAD1 NM_032132 human genbank 54_36p -1 provisional missense c.765 p.R255S 0.94 NULL "superfamily_The spindle assembly checkpoint protein mad2,HMMPfam_HORMA" - no_errors HORMAD1 84072 genome.wustl.edu 36 1 148947432 148947432 + Silent SNP A A T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148947432 148947432 A T SNP HORMAD1 NM_032132 human genbank 54_36p -1 provisional silent c.471 p.I157 1 "HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2" "HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2" - no_errors SETDB1 9869 genome.wustl.edu 36 1 149188556 149188556 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149188556 149188556 C G SNP SETDB1 NM_012432 human genbank 54_36p 1 reviewed missense c.1511 p.S504C 1 NULL "HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors SCNM1 79005 genome.wustl.edu 36 1 149407395 149407395 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149407395 149407395 C A SNP SCNM1 NM_024041 human genbank 54_36p 1 validated missense c.550 p.P184T 0.97 NULL NULL - no_errors TMOD4 29765 genome.wustl.edu 36 1 149410549 149410549 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149410549 149410549 C A SNP TMOD4 NM_013353 human genbank 54_36p -1 validated missense c.710 p.G237V 1 "HMMPfam_Tropomodulin,superfamily_RNI-like" "HMMPfam_Tropomodulin,superfamily_RNI-like" - no_errors PIP5K1A 8394 genome.wustl.edu 36 1 149471789 149471789 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149471789 149471789 C G SNP PIP5K1A NM_003557 human genbank 54_36p 1 validated missense c.586 p.P196A 1 "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors ZNF687 57592 genome.wustl.edu 36 1 149525896 149525896 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149525896 149525896 G A SNP ZNF687 NM_020832 human genbank 54_36p 1 provisional missense c.505 p.E169K 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors PI4KB 5298 genome.wustl.edu 36 1 149555082 149555082 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149555082 149555082 A C SNP PI4KB NM_002651 human genbank 54_36p -1 provisional missense c.536 p.F179C 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors RFX5 5993 genome.wustl.edu 36 1 149581309 149581309 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149581309 149581309 C T SNP RFX5 NM_000449 human genbank 54_36p -1 reviewed missense c.1828 p.D610N 1 NULL "HMMPfam_RFX_DNA_binding,superfamily_SSF46785" - no_errors PSMB4 5692 genome.wustl.edu 36 1 149639206 149639206 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149639206 149639206 G T SNP PSMB4 NM_002796 human genbank 54_36p 1 reviewed missense c.266 p.R89L 0.96 "superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" "superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors POGZ 23126 genome.wustl.edu 36 1 149644636 149644636 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149644636 149644636 C A SNP POGZ NM_015100 human genbank 54_36p -1 reviewed missense c.3499 p.G1167C 1 HMMPfam_DDE "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMPfam_CenpB-DNA-bind,superfamily_Homeodomain-like,HMMSmart_SM00674,HMMPfam_DDE" - no_errors POGZ 23126 genome.wustl.edu 36 1 149667379 149667379 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149667379 149667379 G C SNP POGZ NM_015100 human genbank 54_36p -1 reviewed missense c.703 p.L235V 1 NULL "HMMPfam_DDE,HMMSmart_SM00674,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CGN 57530 genome.wustl.edu 36 1 149774954 149774954 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149774954 149774954 G A SNP CGN NM_020770 human genbank 54_36p 1 validated silent c.3153 p.E1051 0.97 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_tail_1 - no_errors CGN 57530 genome.wustl.edu 36 1 149775932 149775932 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149775932 149775932 G A SNP CGN NM_020770 human genbank 54_36p 1 validated missense c.3409 p.E1137K 1 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_tail_1 - no_errors THEM5 284486 genome.wustl.edu 36 1 150090247 150090247 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150090247 150090247 C A SNP THEM5 NM_182578 human genbank 54_36p -1 validated nonsense c.370 p.G124* 0.97 superfamily_SSF54637 "superfamily_SSF54637,HMMPfam_4HBT" - no_errors TCHHL1 126637 genome.wustl.edu 36 1 150326132 150326132 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150326132 150326132 T A SNP TCHHL1 NM_001008536 human genbank 54_36p -1 provisional missense c.650 p.K217M 0 NULL "PatternScan_S100_CABP,superfamily_SSF47473,HMMPfam_S_100" - no_errors TCHH 7062 genome.wustl.edu 36 1 150346934 150346934 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150346934 150346934 T C SNP TCHH NM_007113 human genbank 54_36p -1 provisional missense c.5383 p.R1795G 0.03 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1" - no_errors TCHH 7062 genome.wustl.edu 36 1 150348232 150348232 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150348232 150348232 A T SNP TCHH NM_007113 human genbank 54_36p -1 provisional missense c.4085 p.F1362Y 0 NULL "PatternScan_S100_CABP,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors HRNR 388697 genome.wustl.edu 36 1 150453461 150453461 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 150453461 150453461 C T SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.7268 p.R2423Q 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK" - no_errors FLG 2312 genome.wustl.edu 36 1 150542311 150542311 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150542311 150542311 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.11675 p.R3892Q 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin" - no_errors FLG 2312 genome.wustl.edu 36 1 150543537 150543537 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150543537 150543537 T G SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.10449 p.R3483S 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150544733 150544733 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150544733 150544733 C G SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.9253 p.G3085R 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150545961 150545961 + Silent SNP A A G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 150545961 150545961 A G SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.8025 p.A2675 0 HMMPfam_Filaggrin "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150547933 150547933 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150547933 150547933 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.6053 p.R2018K 0 HMMPfam_Filaggrin "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150553539 150553539 + Silent SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150553539 150553539 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.447 p.G149 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150591310 150591310 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150591310 150591310 T G SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.5576 p.Q1859P 0 NULL "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin" - no_errors FLG2 388698 genome.wustl.edu 36 1 150592525 150592525 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150592525 150592525 T C SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.4361 p.H1454R 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150593530 150593530 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150593530 150593530 C A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.3356 p.G1119V 0.03 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150594500 150594500 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150594500 150594500 G T SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.2386 p.Q796K 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150595558 150595558 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150595558 150595558 T A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.1328 p.E443V 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors CRNN 49860 genome.wustl.edu 36 1 150650016 150650016 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150650016 150650016 C T SNP CRNN NM_016190 human genbank 54_36p -1 reviewed missense c.166 p.E56K 0.98 "superfamily_SSF47473,HMMPfam_efhand" "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors LCE3E 353145 genome.wustl.edu 36 1 150805082 150805082 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150805082 150805082 C T SNP LCE3E NM_178435 human genbank 54_36p -1 validated missense c.227 p.G76D 0.43 NULL NULL - no_errors KPRP 448834 genome.wustl.edu 36 1 150998716 150998716 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150998716 150998716 C T SNP KPRP NM_001025231 human genbank 54_36p 1 provisional missense c.28 p.R10C 0.01 NULL NULL - no_errors KPRP 448834 genome.wustl.edu 36 1 151000349 151000349 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151000349 151000349 G A SNP KPRP NM_001025231 human genbank 54_36p 1 provisional missense c.1661 p.R554Q 0.01 NULL NULL - no_errors LCE1A 353131 genome.wustl.edu 36 1 151066620 151066620 + Silent SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151066620 151066620 C T SNP LCE1A NM_178348 human genbank 54_36p 1 validated silent c.48 p.C16 0.86 NULL NULL - no_errors IVL 3713 genome.wustl.edu 36 1 151149202 151149202 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151149202 151149202 A C SNP IVL NM_005547 human genbank 54_36p 1 reviewed missense c.305 p.E102A 0 NULL "PatternScan_INVOLUCRIN,HMMPfam_Involucrin_N,HMMPfam_Involucrin" - no_errors LELP1 149018 genome.wustl.edu 36 1 151444086 151444086 + Silent SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151444086 151444086 C T SNP LELP1 NM_001010857 human genbank 54_36p 1 provisional silent c.279 p.P93 0.95 NULL NULL - no_errors PGLYRP3 114771 genome.wustl.edu 36 1 151549717 151549717 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151549717 151549717 C T SNP PGLYRP3 NM_052891 human genbank 54_36p -1 provisional missense c.49 p.A17T 0.02 NULL "superfamily_Amidase_2,HMMSmart_PGRP,HMMPfam_Amidase_2,HMMSmart_Ami_2" - no_errors PGLYRP4 57115 genome.wustl.edu 36 1 151584401 151584401 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151584401 151584401 G A SNP PGLYRP4 NM_020393 human genbank 54_36p -1 validated missense c.221 p.T74M 0 "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" - no_errors NPR1 4881 genome.wustl.edu 36 1 151926302 151926302 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151926302 151926302 C A SNP NPR1 NM_000906 human genbank 54_36p 1 validated silent c.1938 p.G646 0.76 "HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors INTS3 65123 genome.wustl.edu 36 1 152009314 152009314 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152009314 152009314 G C SNP INTS3 NM_023015 human genbank 54_36p 1 validated missense c.2406 p.W802C 1 NULL HMMPfam_DUF2356 - no_errors SLC27A3 11000 genome.wustl.edu 36 1 152017344 152017344 + Silent SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152017344 152017344 C A SNP SLC27A3 NM_024330 human genbank 54_36p 1 provisional silent c.1386 p.R462 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors DENND4B 9909 genome.wustl.edu 36 1 152169831 152169831 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152169831 152169831 T A SNP DENND4B NM_014856 human genbank 54_36p -1 validated missense c.4241 p.E1414V 1 NULL "HMMSmart_uDENN,HMMPfam_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_PPR" - no_errors DENND4B 9909 genome.wustl.edu 36 1 152170166 152170167 + Splice_Site INS - - G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 - - - G - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152170166 152170167 - G INS DENND4B NM_014856 human genbank 54_36p -1 validated splice_site_ins c.3997-3_3997-2 e24-2 0.995:0.981 - - - no_errors NUP210L 91181 genome.wustl.edu 36 1 152262372 152262372 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152262372 152262372 A T SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.4148 p.V1383E 0.99 NULL "superfamily_Invasin_intimin,HMMSmart_BID_2,HMMPfam_Big_2" - no_errors NUP210L 91181 genome.wustl.edu 36 1 152285218 152285218 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 152285218 152285218 C A SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.3647 p.W1216L 1 NULL "HMMPfam_Big_2,HMMSmart_BID_2,superfamily_Invasin_intimin" - no_errors NUP210L 91181 genome.wustl.edu 36 1 152299686 152299686 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152299686 152299686 T G SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.2804 p.Q935P 0.11 NULL "HMMPfam_Big_2,HMMSmart_BID_2,superfamily_Invasin_intimin" - no_errors NUP210L 91181 genome.wustl.edu 36 1 152365549 152365549 + Silent SNP T T C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152365549 152365549 T C SNP NUP210L NM_207308 human genbank 54_36p -1 validated silent c.1200 p.T400 0 NULL "HMMPfam_Big_2,HMMSmart_BID_2,superfamily_Invasin_intimin" - no_errors UBAP2L 9898 genome.wustl.edu 36 1 152490376 152490376 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152490376 152490376 G C SNP UBAP2L NM_014847 human genbank 54_36p 1 validated missense c.1449 p.Q483H 1 NULL "HMMPfam_UBA,HMMSmart_SM00165" - no_errors KIAA1026 23254 genome.wustl.edu 36 1 15264712 15264712 + Splice_Site SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15264712 15264712 G T SNP KIAA1026 NM_201628 human genbank 54_36p 1 validated splice_site c.1099-1 e8-1 1 - - - no_errors IL6R 3570 genome.wustl.edu 36 1 152673740 152673740 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152673740 152673740 G A SNP IL6R NM_000565 human genbank 54_36p 1 reviewed missense c.580 p.V194I 0.05 "superfamily_Fibronectin type III,HMMPfam_IL6Ra-bind" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMPfam_IL6Ra-bind,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3" - no_errors SHC1 6464 genome.wustl.edu 36 1 153209367 153209367 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153209367 153209367 G A SNP SHC1 NM_183001 human genbank 54_36p -1 validated missense c.260 p.A87V 0.1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors FLAD1 80308 genome.wustl.edu 36 1 153227424 153227424 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153227424 153227424 G C SNP FLAD1 NM_025207 human genbank 54_36p 1 reviewed missense c.592 p.E198Q 0.31 "superfamily_Molybdenum cofactor biosynthesis proteins,HMMPfam_MoCF_biosynth" "PatternScan_CARBAMOYLTRANSFERASE,superfamily_Molybdenum cofactor biosynthesis proteins,HMMPfam_MoCF_biosynth,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_PAPS_reduct" - no_errors DCST2 127579 genome.wustl.edu 36 1 153269192 153269192 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153269192 153269192 A C SNP DCST2 NM_144622 human genbank 54_36p -1 validated missense c.1169 p.I390S 1 HMMPfam_DC_STAMP HMMPfam_DC_STAMP - no_errors ADAM15 8751 genome.wustl.edu 36 1 153296343 153296343 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 153296343 153296343 C T SNP ADAM15 NM_207197 human genbank 54_36p 1 reviewed missense c.1204 p.L402F 0.99 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors RAG1AP1 55974 genome.wustl.edu 36 1 153377158 153377158 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153377158 153377158 G A SNP RAG1AP1 NM_018845 human genbank 54_36p 1 validated nonsense c.524 p.W175* 1 HMMPfam_MtN3_slv HMMPfam_MtN3_slv - no_errors TRIM46 80128 genome.wustl.edu 36 1 153421128 153421128 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153421128 153421128 C G SNP TRIM46 NM_025058 human genbank 54_36p 1 validated missense c.1765 p.Q589E 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors SCAMP3 10067 genome.wustl.edu 36 1 153492747 153492747 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 153492747 153492747 G A SNP SCAMP3 NM_005698 human genbank 54_36p -1 reviewed nonsense c.985 p.R329* 1 NULL HMMPfam_SCAMP - no_errors HCN3 57657 genome.wustl.edu 36 1 153520961 153520961 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153520961 153520961 C T SNP HCN3 NM_020897 human genbank 54_36p 1 validated missense c.878 p.S293L 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" - no_errors ASH1L 55870 genome.wustl.edu 36 1 153614790 153614792 + In_Frame_Del DEL TCA TCA - novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 TCA TCA TCA - TCA TCA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153614790 153614792 TCA - DEL ASH1L NM_018489 human genbank 54_36p -1 reviewed in_frame_del c.6238_6236 p.D2079in_frame_del 1.000:1.000:1.000 superfamily_SET domain ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[153614696,153614804])" no_errors YY1AP1 55249 genome.wustl.edu 36 1 153905118 153905118 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153905118 153905118 G C SNP YY1AP1 NM_139118 human genbank 54_36p -1 reviewed missense c.941 p.T314S 0.12 NULL NULL - no_errors GON4L 54856 genome.wustl.edu 36 1 153993466 153993466 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153993466 153993466 C T SNP GON4L NM_001037533 human genbank 54_36p -1 validated silent c.5424 p.L1808 1 NULL "superfamily_PAH2 domain,HMMPfam_PAH,superfamily_Homeodomain-like" - no_errors LMNA 4000 genome.wustl.edu 36 1 154363312 154363312 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154363312 154363312 C T SNP LMNA ENST00000368297 human ensembl 54_36p 1 known missense c.95 p.A32V 0.1 NULL "HMMPfam_Filament,PatternScan_IF,superfamily_SSF74853,HMMPfam_IF_tail" - no_errors LMNA 4000 genome.wustl.edu 36 1 154370932 154370932 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154370932 154370932 A G SNP LMNA NM_170707 human genbank 54_36p 1 reviewed missense c.628 p.I210V 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF,superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors LMNA 4000 genome.wustl.edu 36 1 154371347 154371347 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154371347 154371347 T G SNP LMNA NM_170707 human genbank 54_36p 1 reviewed missense c.767 p.V256G 1 HMMPfam_Filament "HMMPfam_IF_tail,HMMPfam_Filament,PatternScan_IF,superfamily_Lamin A/C globular tail domain" - no_errors SMG5 23381 genome.wustl.edu 36 1 154499939 154499939 + Silent SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154499939 154499939 G A SNP SMG5 NM_015327 human genbank 54_36p -1 validated silent c.1902 p.R634 0.46 NULL "HMMPfam_EST1,HMMSmart_PINc" - no_errors VHLL 391104 genome.wustl.edu 36 1 154535367 154535367 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154535367 154535367 A C SNP VHLL NM_001004319 human genbank 54_36p -1 provisional missense c.238 p.Y80D 0.53 "HMMPfam_VHL,superfamily_SSF49468" "HMMPfam_VHL,superfamily_SSF49468" - no_errors MEF2D 4209 genome.wustl.edu 36 1 154718872 154718872 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154718872 154718872 G C SNP MEF2D NM_005920 human genbank 54_36p -1 provisional missense c.239 p.T80S 1 superfamily_SRF-like "HMMSmart_SM00432,superfamily_SRF-like,PatternScan_MADS_BOX_1,HMMPfam_SRF-TF" - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154788499 154788499 + Silent SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154788499 154788499 G C SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.1461 p.A487 0.95 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C" - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154799639 154799639 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154799639 154799639 G A SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.709 p.L237 1 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_RasGAP_C,HMMPfam_CH,HMMSmart_CH,HMMPfam_RasGAP,HMMSmart_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_Rho_GAP,superfamily_Calponin-homology,superfamily_SSF52540" - no_errors NES 10763 genome.wustl.edu 36 1 154906180 154906180 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154906180 154906180 C T SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.4424 p.G1475D 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors NES 10763 genome.wustl.edu 36 1 154907174 154907174 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 154907174 154907174 G T SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.3430 p.L1144I 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors INSRR 3645 genome.wustl.edu 36 1 155090326 155090326 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155090326 155090326 G C SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.479 p.P160R 0.58 superfamily_SSF52058 ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 genome.wustl.edu 36 1 155104547 155104547 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155104547 155104547 T C SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed silent c.456 p.C152 1 "superfamily_L domain-like,HMMSmart_SM00082" ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 genome.wustl.edu 36 1 155115634 155115634 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155115634 155115634 C T SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed silent c.1902 p.V634 0.99 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors C1orf92 149499 genome.wustl.edu 36 1 155164045 155164045 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155164045 155164045 G A SNP C1orf92 NM_144702 human genbank 54_36p 1 validated missense c.151 p.D51N 1 superfamily_SSF52047 superfamily_SSF52047 - no_errors ARHGEF11 9826 genome.wustl.edu 36 1 155176012 155176012 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155176012 155176012 C T SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed missense c.4048 p.D1350N 0.14 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,HMMSmart_RGS,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH" - no_errors ARHGEF11 9826 genome.wustl.edu 36 1 155192962 155192962 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155192962 155192962 G A SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed silent c.1545 p.A515 1 "HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam" "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_RGS,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729" - no_errors FCRL5 83416 genome.wustl.edu 36 1 155764297 155764297 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155764297 155764297 C T SNP FCRL5 NM_031281 human genbank 54_36p -1 validated missense c.1694 p.R565H 0.75 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL5 83416 genome.wustl.edu 36 1 155779292 155779292 + Silent SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155779292 155779292 A C SNP FCRL5 NM_031281 human genbank 54_36p -1 validated silent c.1104 p.A368 0 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FCRL4 83417 genome.wustl.edu 36 1 155824329 155824329 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 155824329 155824329 C A SNP FCRL4 NM_031282 human genbank 54_36p -1 provisional missense c.512 p.G171V 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL3 115352 genome.wustl.edu 36 1 155915181 155915181 + Silent SNP T T C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155915181 155915181 T C SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed silent c.2148 p.E716 0.04 NULL "superfamily_Immunoglobulin,PatternScan_N6_MTASE,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL3 115352 genome.wustl.edu 36 1 155933778 155933778 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155933778 155933778 A T SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed missense c.620 p.M207K 0.91 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FCRL1 115350 genome.wustl.edu 36 1 156038510 156038510 + Silent SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156038510 156038510 A G SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional silent c.705 p.S235 0.52 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL1 115350 genome.wustl.edu 36 1 156040398 156040398 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156040398 156040398 G A SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional silent c.180 p.A60 0 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors KIRREL 55243 genome.wustl.edu 36 1 156327870 156327870 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 156327870 156327870 C T SNP KIRREL NM_018240 human genbank 54_36p 1 validated silent c.879 p.T293 1 "superfamily_SSF48726,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG" - no_errors CD1C 911 genome.wustl.edu 36 1 156529153 156529153 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156529153 156529153 G T SNP CD1C NM_001765 human genbank 54_36p 1 reviewed missense c.754 p.G252C 0 "superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" "superfamily_MHC_I/II-like_Ag-recog,HMMPfam_MHC_I,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" - no_errors CD1B 910 genome.wustl.edu 36 1 156565786 156565786 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156565786 156565786 C A SNP CD1B NM_001764 human genbank 54_36p -1 reviewed missense c.884 p.W295L 0.99 superfamily_Immunoglobulin "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" - no_errors CELA2A 63036 genome.wustl.edu 36 1 15665172 15665172 + Silent SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15665172 15665172 C T SNP ELA2A NM_033440 human genbank 54_36p 1 reviewed silent c.585 p.S195 0.07 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors OR10K1 391109 genome.wustl.edu 36 1 156702418 156702418 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156702418 156702418 C A SNP OR10K1 NM_001004473 human genbank 54_36p 1 provisional missense c.443 p.A148D 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors CELA2B 51032 genome.wustl.edu 36 1 15680218 15680218 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15680218 15680218 C G SNP ELA2B NM_015849 human genbank 54_36p 1 reviewed missense c.168 p.H56Q 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors OR10X1 128367 genome.wustl.edu 36 1 156816153 156816153 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156816153 156816153 G T SNP OR10X1 NM_001004477 human genbank 54_36p -1 provisional missense c.161 p.T54N 0.02 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SPTA1 6708 genome.wustl.edu 36 1 156850149 156850149 + Silent SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156850149 156850149 A C SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed silent c.6975 p.A2325 0.79 superfamily_EF-hand "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen" - no_errors SPTA1 6708 genome.wustl.edu 36 1 156873163 156873163 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156873163 156873163 T C SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.5202 p.I1734M 0.32 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors SPTA1 6708 genome.wustl.edu 36 1 156904273 156904273 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156904273 156904273 T G SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.2037 p.K679N 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors OR6K3 391114 genome.wustl.edu 36 1 156954197 156954197 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156954197 156954197 C G SNP OR6K3 NM_001005327 human genbank 54_36p -1 provisional missense c.381 p.E127D 0 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6N1 128372 genome.wustl.edu 36 1 157002280 157002280 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157002280 157002280 C A SNP OR6N1 NM_001005185 human genbank 54_36p -1 provisional missense c.817 p.A273S 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MNDA 4332 genome.wustl.edu 36 1 157078761 157078761 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157078761 157078761 T G SNP MNDA NM_002432 human genbank 54_36p 1 reviewed missense c.194 p.L65R 0 HMMPfam_PAAD_DAPIN "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors MNDA 4332 genome.wustl.edu 36 1 157085639 157085639 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157085639 157085639 G A SNP MNDA NM_002432 human genbank 54_36p 1 reviewed missense c.1212 p.M404I 0 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157175519 157175519 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157175519 157175519 A G SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.437 p.E146G 0 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157180391 157180391 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157180391 157180391 A T SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.1190 p.Q397L 0.11 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157181450 157181450 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157181450 157181450 C G SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.1353 p.F451L 0.01 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors IFI16 3428 genome.wustl.edu 36 1 157290096 157290096 + Silent SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157290096 157290096 G A SNP IFI16 NM_005531 human genbank 54_36p 1 reviewed silent c.2067 p.G689 0 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors DARC 2532 genome.wustl.edu 36 1 157442218 157442231 + Frame_Shift_Del DEL GCACTCGCAGCTCT GCACTCGCAGCTCT - novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 GCACTCGCAGCTCT GCACTCGCAGCTCT GCACTCGCAGCTCT - GCACTCGCAGCTCT GCACTCGCAGCTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157442218 157442231 GCACTCGCAGCTCT - DEL DARC NM_002036 human genbank 54_36p 1 reviewed frame_shift_del c.365_378 p.T123fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL "(deletion:cds_exon[157441875,157442864])" no_errors OR10J3 441911 genome.wustl.edu 36 1 157550271 157550271 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157550271 157550271 G A SNP OR10J3 NM_001004467 human genbank 54_36p -1 provisional missense c.803 p.S268F 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10J1 26476 genome.wustl.edu 36 1 157602839 157602839 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157602839 157602839 A G SNP OR10J1 ENST00000328408 human ensembl 54_36p 1 known missense c.265 p.S89G 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_stop_codon FCRL6 343413 genome.wustl.edu 36 1 158051862 158051862 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158051862 158051862 G C SNP FCRL6 NM_001004310 human genbank 54_36p 1 validated missense c.1168 p.V390L 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors IGSF9 57549 genome.wustl.edu 36 1 158166686 158166686 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158166686 158166686 G A SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.1933 p.R645W 0.8 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors IGSF9 57549 genome.wustl.edu 36 1 158179380 158179380 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158179380 158179380 C T SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.244 p.V82M 0.99 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors SLAMF9 89886 genome.wustl.edu 36 1 158188870 158188870 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158188870 158188870 G T SNP SLAMF9 NM_033438 human genbank 54_36p -1 provisional missense c.470 p.S157Y 0.02 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors PIGM 93183 genome.wustl.edu 36 1 158267377 158267377 + Silent SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158267377 158267377 A G SNP PIGM NM_145167 human genbank 54_36p -1 reviewed silent c.777 p.F259 0.99 HMMPfam_Mannosyl_trans HMMPfam_Mannosyl_trans - no_errors KCNJ10 3766 genome.wustl.edu 36 1 158277963 158277963 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158277963 158277963 G T SNP KCNJ10 NM_002241 human genbank 54_36p -1 reviewed missense c.984 p.S328R 1 "HMMPfam_IRK,superfamily_E set domains" "superfamily_Voltage-gated potassium channels,HMMPfam_IRK,superfamily_E set domains" - no_errors LOC388707 388707 genome.wustl.edu 36 1 158503240 158503240 + RNA SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 158503240 158503240 G C SNP LOC388707 XR_017679 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RSC1A1 6248 genome.wustl.edu 36 1 15859164 15859164 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15859164 15859164 C G SNP RSC1A1 NM_006511 human genbank 54_36p 1 provisional missense c.214 p.L72V 0.1 NULL HMMSmart_UBA - no_errors ITLN1 55600 genome.wustl.edu 36 1 159117595 159117595 + Silent SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159117595 159117595 C A SNP ITLN1 NM_017625 human genbank 54_36p -1 validated silent c.537 p.L179 0.07 superfamily_Fibrinogen C-terminal domain-like superfamily_Fibrinogen C-terminal domain-like - no_errors ITLN1 55600 genome.wustl.edu 36 1 159118580 159118580 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159118580 159118580 A T SNP ITLN1 NM_017625 human genbank 54_36p -1 validated missense c.196 p.Y66N 1 superfamily_Fibrinogen C-terminal domain-like superfamily_Fibrinogen C-terminal domain-like - no_errors LOC646347 646347 genome.wustl.edu 36 1 159132183 159132183 + RNA SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159132183 159132183 C A SNP LOC646347 XR_017680 human genbank 54_36p 1 model rna NULL NULL 0.94 - - - pseudogene ITLN2 142683 genome.wustl.edu 36 1 159187017 159187017 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159187017 159187017 T C SNP ITLN2 NM_080878 human genbank 54_36p -1 validated missense c.550 p.N184D 0 superfamily_Fibrinogen C-terminal domain-like superfamily_Fibrinogen C-terminal domain-like - no_errors ARHGAP30 257106 genome.wustl.edu 36 1 159285106 159285106 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159285106 159285106 G C SNP ARHGAP30 NM_001025598 human genbank 54_36p -1 validated missense c.2329 p.Q777E 0.01 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP30 257106 genome.wustl.edu 36 1 159288936 159288936 + Silent SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159288936 159288936 G A SNP ARHGAP30 NM_001025598 human genbank 54_36p -1 validated silent c.858 p.V286 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP" - no_errors PVRL4 81607 genome.wustl.edu 36 1 159309176 159309176 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159309176 159309176 T C SNP PVRL4 NM_030916 human genbank 54_36p -1 validated missense c.1432 p.I478V 0.99 NULL "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig" - no_errors USP21 27005 genome.wustl.edu 36 1 159397428 159397428 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 159397428 159397428 C T SNP USP21 NM_001014443 human genbank 54_36p 1 reviewed missense c.374 p.A125V 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP21 27005 genome.wustl.edu 36 1 159398689 159398689 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159398689 159398689 C T SNP USP21 ENST00000401988 human ensembl 54_36p 1 known missense c.658 p.P220S 1 NULL "HMMPfam_UCH,superfamily_Cysteine proteinases" - no_errors MPZ 4359 genome.wustl.edu 36 1 159542580 159542580 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159542580 159542580 G C SNP MPZ NM_000530 human genbank 54_36p -1 reviewed missense c.617 p.A206G 1 HMMPfam_Myelin-PO_N "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_Myelin-PO_N,PatternScan_MYELIN_P0" - no_errors LOC148430 148430 genome.wustl.edu 36 1 159643193 159643193 + RNA SNP C C G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 159643193 159643193 C G SNP LOC148430 XR_017209 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ATF6 22926 genome.wustl.edu 36 1 160002790 160002790 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 160002790 160002790 G A SNP ATF6 NM_007348 human genbank 54_36p 1 validated missense c.16 p.G6R 0 NULL "HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC" - no_errors ATF6 22926 genome.wustl.edu 36 1 160088228 160088228 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 160088228 160088228 T C SNP ATF6 NM_007348 human genbank 54_36p 1 validated missense c.1412 p.I471T 0.18 NULL "HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors SPEN 23013 genome.wustl.edu 36 1 16073415 16073415 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16073415 16073415 T C SNP SPEN ENST00000375753 human ensembl 54_36p 1 known silent c.219 p.Y73 1 NULL "superfamily_SSF54928,HMMSmart_RRM" - no_stop_codon SPEN 23013 genome.wustl.edu 36 1 16075631 16075631 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16075631 16075631 G C SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.752 p.R251T 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC" - no_errors UAP1 6675 genome.wustl.edu 36 1 160835707 160835707 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 160835707 160835707 A G SNP UAP1 NM_003115 human genbank 54_36p 1 validated missense c.1448 p.D483G 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP" - no_errors DDR2 4921 genome.wustl.edu 36 1 160989543 160989543 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 160989543 160989543 C T SNP DDR2 NM_001014796 human genbank 54_36p 1 reviewed silent c.117 p.G39 1 "HMMSmart_FA58C,superfamily_Gal_bind_like" "HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors SPEN 23013 genome.wustl.edu 36 1 16129028 16129028 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16129028 16129028 G C SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.3706 p.D1236H 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928" - no_errors RGS4 5999 genome.wustl.edu 36 1 161309978 161309978 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 161309978 161309978 T A SNP RGS4 NM_001102445 human genbank 54_36p 1 reviewed missense c.611 p.L204Q 0.97 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors NUF2 83540 genome.wustl.edu 36 1 161564699 161564699 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 161564699 161564699 A C SNP NUF2 NM_031423 human genbank 54_36p 1 reviewed missense c.256 p.S86R 1 HMMPfam_Nuf2 HMMPfam_Nuf2 - no_errors NUF2 83540 genome.wustl.edu 36 1 161585425 161585425 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 161585425 161585425 A T SNP NUF2 NM_031423 human genbank 54_36p 1 reviewed missense c.1191 p.E397D 0.67 NULL HMMPfam_Nuf2 - no_errors CLCNKA 1187 genome.wustl.edu 36 1 16223895 16223895 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 16223895 16223895 C T SNP CLCNKA NM_004070 human genbank 54_36p 1 reviewed missense c.280 p.L94F 1 superfamily_Cl-channel_core "HMMPfam_CBS,HMMSmart_CBS,HMMPfam_Voltage_CLC,superfamily_Cl-channel_core,superfamily_SSF54631" - no_errors EPHA2 1969 genome.wustl.edu 36 1 16328605 16328605 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16328605 16328605 C G SNP EPHA2 NM_004431 human genbank 54_36p -1 reviewed missense c.2736 p.W912C 1 "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" ############################################################################################################################################################################################################################################################### - no_errors ARHGEF19 128272 genome.wustl.edu 36 1 16397715 16397715 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16397715 16397715 T G SNP ARHGEF19 NM_153213 human genbank 54_36p -1 provisional missense c.2363 p.K788T 1 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" - no_errors UCK2 7371 genome.wustl.edu 36 1 164139129 164139129 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 164139129 164139129 T C SNP UCK2 NM_012474 human genbank 54_36p 1 reviewed missense c.586 p.F196L 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PRK" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PRK" - no_errors LOC284685 284685 genome.wustl.edu 36 1 164512962 164512962 + RNA SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 164512962 164512962 C T SNP LOC284685 XR_017685 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene POGK 57645 genome.wustl.edu 36 1 165086065 165086065 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 165086065 165086065 C T SNP POGK NM_017542 human genbank 54_36p 1 reviewed missense c.1625 p.P542L 0.29 HMMPfam_DDE "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMPfam_BrkDBD,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind,HMMSmart_SM00674,HMMPfam_DDE" - no_errors TADA1 117143 genome.wustl.edu 36 1 165098153 165098153 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165098153 165098153 G C SNP TADA1L NM_053053 human genbank 54_36p -1 validated missense c.451 p.L151V 1 NULL NULL - no_errors ILDR2 387597 genome.wustl.edu 36 1 165172558 165172558 + Silent SNP G G A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165172558 165172558 G A SNP ILDR2 NM_199351 human genbank 54_36p -1 provisional silent c.597 p.L199 1 HMMPfam_LSR "superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_LSR" - no_errors DUSP27 92235 genome.wustl.edu 36 1 165362623 165362623 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165362623 165362623 T A SNP DUSP27 NM_001080426 human genbank 54_36p 1 provisional missense c.1631 p.L544Q 1 NULL "PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" - no_errors DUSP27 92235 genome.wustl.edu 36 1 165363883 165363883 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165363883 165363883 G A SNP DUSP27 NM_001080426 human genbank 54_36p 1 provisional missense c.2891 p.R964K 0.61 NULL "HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799" - no_errors C1orf144 26099 genome.wustl.edu 36 1 16592355 16592356 + Frame_Shift_Ins INS - - ATTGT novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 16592355 16592356 - ATTGT INS C1orf144 NM_015609 human genbank 54_36p 1 provisional frame_shift_ins c.90_91 p.D30fs 1.000:1.000 NULL NULL - no_errors RCSD1 92241 genome.wustl.edu 36 1 165925967 165925967 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165925967 165925967 A T SNP RCSD1 NM_052862 human genbank 54_36p 1 validated missense c.256 p.I86F 1 NULL HMMPfam_RCSD - no_errors SPATA21 374955 genome.wustl.edu 36 1 16598576 16598576 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16598576 16598576 T C SNP SPATA21 NM_198546 human genbank 54_36p -1 provisional missense c.1202 p.Q401R 0.99 NULL "superfamily_SSF47473,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors MPZL1 9019 genome.wustl.edu 36 1 166001554 166001554 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 166001554 166001554 G A SNP MPZL1 NM_003953 human genbank 54_36p 1 validated missense c.202 p.G68R 0.16 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors MPZL1 9019 genome.wustl.edu 36 1 166009187 166009187 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 166009187 166009187 C G SNP MPZL1 NM_003953 human genbank 54_36p 1 validated missense c.563 p.A188G 0.94 NULL "HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors ADCY10 55811 genome.wustl.edu 36 1 166119382 166119382 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 166119382 166119382 C T SNP ADCY10 NM_018417 human genbank 54_36p -1 validated missense c.937 p.A313T 0.77 superfamily_Adenylyl and guanylyl cyclase catalytic domain "superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,superfamily_TPR-like" - no_errors SPATA21 374955 genome.wustl.edu 36 1 16621066 16621066 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16621066 16621066 C T SNP SPATA21 ENST00000375584 human ensembl 54_36p -1 known missense c.700 p.V234I 0 NULL NULL - no_errors F5 2153 genome.wustl.edu 36 1 167750264 167750264 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 167750264 167750264 T A SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.6586 p.I2196F 1 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C" "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors F5 2153 genome.wustl.edu 36 1 167751388 167751388 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 167751388 167751388 T C SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.6446 p.Y2149C 1 "HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like" "HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins,superfamily_Galactose-binding domain-like,HMMPfam_LSPR,HMMPfam_Cu-oxidase_3" - no_errors SELE 6401 genome.wustl.edu 36 1 167963921 167963921 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 167963921 167963921 C A SNP SELE NM_000450 human genbank 54_36p -1 reviewed missense c.1181 p.C394F 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" ############################################################################################################################################################################################################################################################### - no_errors BAT2L2 23215 genome.wustl.edu 36 1 169802148 169802148 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 169802148 169802148 G C SNP BAT2D1 ENST00000392080 human ensembl 54_36p 1 known missense c.6264 p.Q2088H 1 NULL HMMPfam_BAT2_N - no_errors CROCC 9696 genome.wustl.edu 36 1 17168359 17168359 + Silent SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17168359 17168359 G A SNP CROCC NM_014675 human genbank 54_36p 1 validated silent c.5238 p.R1746 1 superfamily_Prefoldin superfamily_Prefoldin - no_errors SLC9A11 284525 genome.wustl.edu 36 1 171771678 171771678 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 171771678 171771678 C G SNP SLC9A11 NM_178527 human genbank 54_36p -1 validated missense c.1689 p.M563I 0.05 NULL "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Na_H_Exchanger,HMMPfam_Ion_trans,HMMSmart_cNMP,superfamily_cNMP_binding,HMMPfam_cNMP_binding" - no_errors SLC9A11 284525 genome.wustl.edu 36 1 171812446 171812446 + Silent SNP C C T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 171812446 171812446 C T SNP SLC9A11 NM_178527 human genbank 54_36p -1 validated silent c.879 p.P293 0.02 HMMPfam_Na_H_Exchanger "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Na_H_Exchanger,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding" - no_errors ATP13A2 23400 genome.wustl.edu 36 1 17203855 17203855 + Silent SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17203855 17203855 C A SNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed silent c.396 p.A132 0.07 NULL ############################################################################################################################################################################################################################################################### - no_errors SERPINC1 462 genome.wustl.edu 36 1 172139768 172139768 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 172139768 172139768 G A SNP SERPINC1 NM_000488 human genbank 54_36p -1 validated missense c.1277 p.S426L 1 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors RC3H1 149041 genome.wustl.edu 36 1 172220294 172220294 + Silent SNP T T C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 172220294 172220294 T C SNP RC3H1 NM_172071 human genbank 54_36p -1 validated silent c.318 p.L106 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH" - no_errors PADI2 11240 genome.wustl.edu 36 1 17269215 17269215 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17269215 17269215 G T SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.1719 p.F573L 1 "HMMPfam_PAD,superfamily_SSF55909" "HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909" - no_errors PADI2 11240 genome.wustl.edu 36 1 17274006 17274006 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17274006 17274006 G A SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.1481 p.T494I 1 "HMMPfam_PAD,superfamily_SSF55909" "superfamily_Cupredoxin,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_PAD_central,superfamily_SSF55909" - no_errors PADI2 11240 genome.wustl.edu 36 1 17291556 17291556 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17291556 17291556 C T SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.589 p.G197R 0.98 "HMMPfam_PAD_M,superfamily_PAD_central" "superfamily_Cupredoxin,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_PAD_central,superfamily_SSF55909" - no_errors TNR 7143 genome.wustl.edu 36 1 173560251 173560251 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 173560251 173560251 C A SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.3821 p.R1274L 1 "HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" - no_errors PADI3 51702 genome.wustl.edu 36 1 17472520 17472520 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 17472520 17472520 A T SNP PADI3 NM_016233 human genbank 54_36p 1 reviewed missense c.1146 p.K382N 0.31 "HMMPfam_PAD,superfamily_SSF55909" "HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909" - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174931581 174931581 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 174931581 174931581 T G SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.2709 p.C903W 1 HMMPfam_Peptidase_M43 ############################################################################################################################################################################################################################################################### - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174935170 174935170 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 174935170 174935170 G T SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.3058 p.V1020L 0.95 NULL ############################################################################################################################################################################################################################################################### - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174935189 174935189 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 174935189 174935189 A G SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.3077 p.D1026G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ASTN1 460 genome.wustl.edu 36 1 175104728 175104728 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175104728 175104728 C T SNP ASTN1 NM_004319 human genbank 54_36p -1 validated silent c.3522 p.Q1174 1 NULL "HMMSmart_EGF,HMMSmart_MACPF,superfamily_FN_III-like,HMMSmart_FN3" - no_errors ASTN1 460 genome.wustl.edu 36 1 175181690 175181705 + Frame_Shift_Del DEL TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175181690 175181705 TGTTCCTTTCAGCACC - DEL ASTN1 NM_004319 human genbank 54_36p -1 validated frame_shift_del c.2244_2229 p.Q743fs 0.969:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_MACPF,HMMSmart_FN3,HMMSmart_EGF,superfamily_FN_III-like" "(deletion:cds_exon[175181685,175181879])" no_errors ASTN1 460 genome.wustl.edu 36 1 175259324 175259324 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175259324 175259324 C A SNP ASTN1 NM_004319 human genbank 54_36p -1 validated missense c.1277 p.R426L 1 NULL "HMMSmart_MACPF,HMMSmart_FN3,HMMSmart_EGF,superfamily_FN_III-like" - no_errors ASTN1 460 genome.wustl.edu 36 1 175268522 175268522 + Silent SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175268522 175268522 G C SNP ASTN1 NM_004319 human genbank 54_36p -1 validated silent c.558 p.V186 0.63 NULL "HMMSmart_MACPF,HMMSmart_FN3,HMMSmart_EGF,superfamily_FN_III-like" - no_errors PADI4 23569 genome.wustl.edu 36 1 17547048 17547048 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17547048 17547048 A T SNP PADI4 NM_012387 human genbank 54_36p 1 reviewed missense c.1073 p.Q358L 1 "HMMPfam_PAD,superfamily_Pentein" "HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein" - no_errors FAM5B 57795 genome.wustl.edu 36 1 175517201 175517201 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175517201 175517201 G A SNP FAM5B NM_021165 human genbank 54_36p 1 provisional missense c.2266 p.V756M 1 NULL HMMSmart_SM00457 - no_errors PADI4 23569 genome.wustl.edu 36 1 17558442 17558442 + Silent SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 17558442 17558442 C T SNP PADI4 NM_012387 human genbank 54_36p 1 reviewed silent c.1710 p.L570 1 "HMMPfam_PAD,superfamily_Pentein" "superfamily_Cupredoxins,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,superfamily_Pentein" - no_errors RASAL2 9462 genome.wustl.edu 36 1 176687333 176687333 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 176687333 176687333 G C SNP RASAL2 NM_170692 human genbank 54_36p 1 reviewed missense c.1578 p.E526D 1 "HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP" "HMMSmart_PH,superfamily_SSF50729,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" - no_errors FAM20B 9917 genome.wustl.edu 36 1 177279865 177279865 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 177279865 177279865 T G SNP FAM20B NM_014864 human genbank 54_36p 1 validated missense c.260 p.V87G 1 NULL HMMPfam_DUF1193 - no_errors FAM20B 9917 genome.wustl.edu 36 1 177300122 177300122 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 177300122 177300122 G T SNP FAM20B NM_014864 human genbank 54_36p 1 validated missense c.806 p.G269V 1 HMMPfam_DUF1193 HMMPfam_DUF1193 - no_errors ARHGEF10L 55160 genome.wustl.edu 36 1 17823526 17823526 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17823526 17823526 G A SNP ARHGEF10L NM_018125 human genbank 54_36p 1 validated missense c.1258 p.A420T 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,superfamily_WD40 repeat-like" - no_errors CEP350 9857 genome.wustl.edu 36 1 178290216 178290216 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 178290216 178290216 C T SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.5215 p.R1739W 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors CEP350 9857 genome.wustl.edu 36 1 178290231 178290231 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 178290231 178290231 G T SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.5230 p.G1744C 1 NULL "HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain" - no_errors CEP350 9857 genome.wustl.edu 36 1 178328483 178328483 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 178328483 178328483 C G SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.6617 p.P2206R 0.97 NULL "HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain" - no_errors QSOX1 5768 genome.wustl.edu 36 1 178432226 178432226 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 178432226 178432226 G A SNP QSOX1 NM_002826 human genbank 54_36p 1 reviewed missense c.1675 p.A559T 0.01 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,superfamily_FAD-dependent thiol oxidase,HMMPfam_Evr1_Alr" - no_errors KIAA1614 57710 genome.wustl.edu 36 1 179171458 179171458 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 179171458 179171458 C T SNP KIAA1614 NM_020950 human genbank 54_36p 1 validated missense c.1790 p.T597I 0.98 NULL NULL - no_errors STX6 10228 genome.wustl.edu 36 1 179225768 179225768 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 179225768 179225768 A G SNP STX6 NM_005819 human genbank 54_36p -1 validated missense c.464 p.I155T 1 NULL "superfamily_t-snare proteins,HMMPfam_Syntaxin-6_N,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors CACNA1E 777 genome.wustl.edu 36 1 179974914 179974914 + Silent SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 179974914 179974914 C T SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed silent c.3621 p.D1207 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1E 777 genome.wustl.edu 36 1 180034140 180034140 + Silent SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180034140 180034140 G T SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed silent c.6360 p.P2120 0.32 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors ACTL8 81569 genome.wustl.edu 36 1 18025359 18025359 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18025359 18025359 C A SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional missense c.859 p.L287M 0 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN" - no_errors ACTL8 81569 genome.wustl.edu 36 1 18025484 18025484 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18025484 18025484 G C SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional missense c.984 p.W328C 0 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" - no_errors ACTL8 81569 genome.wustl.edu 36 1 18025595 18025595 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18025595 18025595 G A SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional silent c.1095 p.R365 0 "HMMPfam_Actin,HMMSmart_ACTIN" "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" - no_errors TEDDM1 127670 genome.wustl.edu 36 1 180635534 180635534 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180635534 180635534 T C SNP TEDDM1 NM_172000 human genbank 54_36p -1 validated missense c.710 p.K237R 0 NULL HMMPfam_DUF716 - no_errors TEDDM1 127670 genome.wustl.edu 36 1 180635977 180635977 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180635977 180635977 C G SNP TEDDM1 NM_172000 human genbank 54_36p -1 validated missense c.267 p.K89N 0.06 NULL HMMPfam_DUF716 - no_errors RNASEL 6041 genome.wustl.edu 36 1 180811317 180811317 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180811317 180811317 C T SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.2059 p.D687N 0.23 "HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors RNASEL 6041 genome.wustl.edu 36 1 180812026 180812026 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 180812026 180812026 T C SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.2027 p.E676G 0 "HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00220,HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like)" - no_errors RNASEL 6041 genome.wustl.edu 36 1 180821901 180821901 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180821901 180821901 T A SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.664 p.T222S 0 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00220,HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like)" - no_errors RGS8 85397 genome.wustl.edu 36 1 180883954 180883954 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180883954 180883954 G C SNP RGS8 NM_033345 human genbank 54_36p -1 reviewed missense c.355 p.L119V 1 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors DHX9 1660 genome.wustl.edu 36 1 181112227 181112227 + Silent SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181112227 181112227 A G SNP DHX9 NM_001357 human genbank 54_36p 1 reviewed silent c.2052 p.L684 0.98 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" ############################################################################################################################################################################################################################################################### - no_errors LAMC1 3915 genome.wustl.edu 36 1 181346371 181346371 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181346371 181346371 C G SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.980 p.P327R 1 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1" "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B,PatternScan_EGF_2" - no_errors LAMC1 3915 genome.wustl.edu 36 1 181360492 181360492 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181360492 181360492 T A SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.2505 p.D835E 1 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196" "HMMPfam_Laminin_B,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Grow_fac_recept,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF57196" - no_errors LAMC2 3918 genome.wustl.edu 36 1 181479120 181479120 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181479120 181479120 C G SNP LAMC2 NM_005562 human genbank 54_36p 1 reviewed missense c.3544 p.P1182A 0.98 NULL "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_1,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,superfamily_Concanavalin A-like lectins/glucanases" - no_errors NCF2 4688 genome.wustl.edu 36 1 181796000 181796001 + Missense_Mutation DNP TC TC GT novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 TC TC TC GT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181796000 181796001 TC GT DNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.1322_1321 p.E441T 0.006:0.005 superfamily_SH3 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1" - no_errors NCF2 4688 genome.wustl.edu 36 1 181810245 181810245 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181810245 181810245 C G SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.501 p.W167C 1 superfamily_SSF48452 "HMMPfam_PB1,HMMSmart_PB1,HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMSmart_TPR,superfamily_SSF48452,superfamily_SSF54277" - no_errors NCF2 4688 genome.wustl.edu 36 1 181810298 181810298 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181810298 181810298 T C SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.448 p.M150V 0.81 "HMMSmart_TPR,superfamily_SSF48452" "HMMPfam_PB1,HMMSmart_PB1,HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMSmart_TPR,superfamily_SSF48452,superfamily_SSF54277" - no_errors RGL1 23179 genome.wustl.edu 36 1 182083355 182083355 + Silent SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 182083355 182083355 A G SNP RGL1 NM_015149 human genbank 54_36p 1 validated silent c.276 p.T92 0.98 superfamily_Ras GEF "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314" - no_errors RGL1 23179 genome.wustl.edu 36 1 182147925 182147925 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 182147925 182147925 G C SNP RGL1 NM_015149 human genbank 54_36p 1 validated missense c.1754 p.S585T 1 NULL "HMMPfam_RA,HMMSmart_SM00314,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_Ubiquitin-like" - no_errors FAM129A 116496 genome.wustl.edu 36 1 183031338 183031338 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183031338 183031338 G C SNP FAM129A NM_052966 human genbank 54_36p -1 validated missense c.2183 p.P728R 0 NULL NULL - no_errors FAM129A 116496 genome.wustl.edu 36 1 183031339 183031339 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183031339 183031339 G T SNP FAM129A NM_052966 human genbank 54_36p -1 validated missense c.2182 p.P728T 0 NULL NULL - no_errors C1orf26 54823 genome.wustl.edu 36 1 183410550 183410550 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183410550 183410550 C T SNP C1orf26 NM_001105518 human genbank 54_36p 1 validated silent c.648 p.N216 0 NULL "superfamily_SSF88723,HMMSmart_PINc" - no_errors IVNS1ABP 10625 genome.wustl.edu 36 1 183533919 183533919 + Silent SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183533919 183533919 C G SNP IVNS1ABP NM_006469 human genbank 54_36p -1 validated silent c.1800 p.G600 0.99 "superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors IVNS1ABP 10625 genome.wustl.edu 36 1 183545153 183545153 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183545153 183545153 A T SNP IVNS1ABP NM_006469 human genbank 54_36p -1 validated nonsense c.96 p.C32* 1 "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors HMCN1 83872 genome.wustl.edu 36 1 184159201 184159201 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184159201 184159201 G A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.1078 p.D360N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184258889 184258889 + Silent SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184258889 184258889 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.5730 p.H1910 1 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184358857 184358857 + Silent SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184358857 184358857 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.12381 p.V4127 0.96 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184402616 184402616 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184402616 184402616 G T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.15493 p.D5165Y 1 "HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184418038 184418038 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184418038 184418038 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.16410 p.C5470 1 "HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors TPR 7175 genome.wustl.edu 36 1 184595581 184595581 + Silent SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184595581 184595581 T C SNP TPR NM_003292 human genbank 54_36p -1 reviewed silent c.1362 p.L454 0.99 NULL "superfamily_Prefoldin,HMMPfam_TPR_MLP1_2" - no_errors PTGS2 5743 genome.wustl.edu 36 1 184912345 184912345 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184912345 184912345 C T SNP PTGS2 NM_000963 human genbank 54_36p -1 reviewed missense c.847 p.G283S 0.99 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" "superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" - no_errors PLA2G4A 5321 genome.wustl.edu 36 1 185186473 185186473 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 185186473 185186473 C G SNP PLA2G4A NM_024420 human genbank 54_36p 1 reviewed missense c.1326 p.H442Q 0.96 "HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B,PatternScan_PPASE,PatternScan_SUBTILASE_ASP" - no_errors IGSF21 84966 genome.wustl.edu 36 1 18577378 18577378 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18577378 18577378 G A SNP IGSF21 NM_032880 human genbank 54_36p 1 provisional missense c.1375 p.A459T 1 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" - no_errors KLHDC7A 127707 genome.wustl.edu 36 1 18680136 18680136 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18680136 18680136 C G SNP KLHDC7A NM_152375 human genbank 54_36p 1 validated missense c.74 p.A25G 0.82 NULL "superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KLHDC7A 127707 genome.wustl.edu 36 1 18680771 18680771 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18680771 18680771 G A SNP KLHDC7A NM_152375 human genbank 54_36p 1 validated missense c.709 p.G237R 0.01 NULL "HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central" - no_errors PAX7 5081 genome.wustl.edu 36 1 18833476 18833476 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18833476 18833476 G C SNP PAX7 NM_002584 human genbank 54_36p 1 reviewed missense c.178 p.V60L 1 "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like" "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors FAM5C 339479 genome.wustl.edu 36 1 188470230 188470230 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 188470230 188470230 C T SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.619 p.V207I 1 HMMSmart_SM00457 "HMMPfam_MACPF,HMMSmart_SM00457" - no_errors TAS1R2 80834 genome.wustl.edu 36 1 19039080 19039080 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19039080 19039080 C T SNP TAS1R2 NM_152232 human genbank 54_36p -1 validated missense c.2120 p.R707H 0 HMMPfam_7tm_3 "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3" - no_errors RGS18 64407 genome.wustl.edu 36 1 190395038 190395038 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190395038 190395038 G A SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed missense c.185 p.R62H 0 NULL "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors RGS18 64407 genome.wustl.edu 36 1 190395051 190395051 + Silent SNP T T G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190395051 190395051 T G SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed silent c.198 p.S66 0.29 NULL "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" - no_errors RGS18 64407 genome.wustl.edu 36 1 190417080 190417080 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190417080 190417080 G C SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed missense c.319 p.E107Q 1 "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" - no_errors RGS21 431704 genome.wustl.edu 36 1 190583138 190583138 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190583138 190583138 C A SNP RGS21 NM_001039152 human genbank 54_36p 1 provisional missense c.84 p.N28K 0.96 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors UBR4 23352 genome.wustl.edu 36 1 19314710 19314710 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 19314710 19314710 C A SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.10832 p.R3611L 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-UBR,HMMSmart_SM00396,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19316463 19316463 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19316463 19316463 C T SNP UBR4 NM_020765 human genbank 54_36p -1 validated silent c.10662 p.T3554 0.97 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19316494 19316494 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19316494 19316494 T A SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.10631 p.Y3544F 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19352973 19352973 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19352973 19352973 T G SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.6506 p.E2169A 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19366167 19366167 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19366167 19366167 G C SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.4045 p.R1349G 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors KIAA0090 23065 genome.wustl.edu 36 1 19438993 19438993 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19438993 19438993 G A SNP KIAA0090 NM_015047 human genbank 54_36p -1 predicted missense c.860 p.S287F 0.88 superfamily_Quinoprotein alcohol dehydrogenase-like "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_DUF1620" - no_errors KCNT2 343450 genome.wustl.edu 36 1 194562493 194562493 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 194562493 194562493 G A SNP KCNT2 NM_198503 human genbank 54_36p -1 validated silent c.2253 p.P751 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a" - no_errors KCNT2 343450 genome.wustl.edu 36 1 194634315 194634315 + Splice_Site SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 194634315 194634315 C T SNP KCNT2 NM_198503 human genbank 54_36p -1 validated splice_site c.1294+1 e13+1 1 - - - no_errors KCNT2 343450 genome.wustl.edu 36 1 194665328 194665328 + Splice_Site SNP A A T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 194665328 194665328 A T SNP KCNT2 NM_198503 human genbank 54_36p -1 validated splice_site c.819+2 e9+2 1 - - - no_errors CFHR4 10877 genome.wustl.edu 36 1 195138355 195138355 + Silent SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195138355 195138355 G A SNP CFHR4 NM_006684 human genbank 54_36p 1 validated silent c.243 p.T81 0 "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors ASPM 259266 genome.wustl.edu 36 1 195337279 195337279 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195337279 195337279 C T SNP ASPM NM_018136 human genbank 54_36p -1 validated silent c.7725 p.K2575 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" - no_errors ASPM 259266 genome.wustl.edu 36 1 195338672 195338672 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195338672 195338672 C T SNP ASPM NM_018136 human genbank 54_36p -1 validated missense c.6332 p.R2111K 0.47 "HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CRB1 23418 genome.wustl.edu 36 1 195564406 195564406 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 195564406 195564406 G C SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.302 p.G101A 0.85 "HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors CRB1 23418 genome.wustl.edu 36 1 195592610 195592610 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 195592610 195592610 G A SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.1015 p.D339N 0.96 "HMMSmart_SM00179,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors CRB1 23418 genome.wustl.edu 36 1 195657676 195657676 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195657676 195657676 C T SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.2095 p.H699Y 1 "HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors LHX9 56956 genome.wustl.edu 36 1 196153694 196153694 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 196153694 196153694 A G SNP LHX9 NM_020204 human genbank 54_36p 1 reviewed missense c.118 p.R40G 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PTPRC 5788 genome.wustl.edu 36 1 196938184 196938184 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 196938184 196938184 C A SNP PTPRC NM_002838 human genbank 54_36p 1 reviewed missense c.479 p.P160Q 0 NULL "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors ENSG00000209589 0 genome.wustl.edu 36 1 19731278 19731278 + RNA SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 19731278 19731278 T A SNP ENSG00000209589 ENST00000386854 human ensembl 54_36p -1 novel rna NULL NULL 0 - - - pseudogene NR5A2 2494 genome.wustl.edu 36 1 198356604 198356604 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 198356604 198356604 A C SNP NR5A2 NM_205860 human genbank 54_36p 1 validated missense c.1276 p.N426H 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors NBL1 4681 genome.wustl.edu 36 1 19854446 19854446 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 19854446 19854446 C T SNP NBL1 NM_182744 human genbank 54_36p 1 reviewed silent c.318 p.T106 1 "HMMPfam_DAN,HMMSmart_CT" "HMMPfam_DAN,HMMSmart_CT" - no_errors KIF21B 23046 genome.wustl.edu 36 1 199225768 199225768 + Silent SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 199225768 199225768 G C SNP KIF21B NM_017596 human genbank 54_36p -1 provisional silent c.3057 p.S1019 0.43 "superfamily_WD40_like,superfamily_Prefoldin" "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CACNA1S 779 genome.wustl.edu 36 1 199327481 199327481 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 199327481 199327481 G A SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed silent c.604 p.L202 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors IPO9 55705 genome.wustl.edu 36 1 200087914 200087914 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200087914 200087914 G A SNP IPO9 NM_018085 human genbank 54_36p 1 validated missense c.574 p.E192K 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N" - no_errors LMOD1 25802 genome.wustl.edu 36 1 200135833 200135833 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200135833 200135833 C T SNP LMOD1 ENST00000367288 human ensembl 54_36p -1 known missense c.931 p.E311K 1 HMMPfam_Tropomodulin "HMMPfam_Tropomodulin,superfamily_SSF52047,HMMPfam_WH2" - no_errors ARL8A 127829 genome.wustl.edu 36 1 200371488 200371488 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200371488 200371488 T C SNP ARL8A NM_138795 human genbank 54_36p -1 validated silent c.342 p.L114 0.86 "HMMSmart_SM00177,HMMPfam_Arf,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" "HMMSmart_SM00177,HMMPfam_Arf,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" - no_errors PPP1R12B 4660 genome.wustl.edu 36 1 200673582 200673582 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 200673582 200673582 G T SNP PPP1R12B NM_032105 human genbank 54_36p 1 reviewed missense c.1265 p.G422V 0.99 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors SYT2 127833 genome.wustl.edu 36 1 200835041 200835041 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200835041 200835041 G T SNP SYT2 NM_177402 human genbank 54_36p -1 validated silent c.981 p.T327 0.91 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors PPFIA4 8497 genome.wustl.edu 36 1 201281644 201281644 + Missense_Mutation SNP G C C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201281644 201281644 G C SNP PPFIA4 ENST00000367238 human ensembl 54_36p 1 known missense c.911 p.R304P 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPFIA4 8497 genome.wustl.edu 36 1 201299692 201299692 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 201299692 201299692 G A SNP PPFIA4 NM_015053 human genbank 54_36p 1 validated missense c.1470 p.M490I 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPFIA4 8497 genome.wustl.edu 36 1 201304215 201304215 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201304215 201304215 T A SNP PPFIA4 NM_015053 human genbank 54_36p 1 validated missense c.1642 p.W548R 1 "HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" "HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" - no_errors FMOD 2331 genome.wustl.edu 36 1 201583696 201583696 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201583696 201583696 T C SNP FMOD NM_002023 human genbank 54_36p -1 reviewed missense c.326 p.Y109C 1 "superfamily_SSF52058,HMMSmart_LRRNT" "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors ATP2B4 493 genome.wustl.edu 36 1 201939470 201939470 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201939470 201939470 G C SNP ATP2B4 NM_001684 human genbank 54_36p 1 reviewed missense c.1005 p.E335D 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase" ############################################################################################################################################################################################################################################################### - no_errors ETNK2 55224 genome.wustl.edu 36 1 202382475 202382475 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 202382475 202382475 C T SNP ETNK2 NM_018208 human genbank 54_36p -1 reviewed missense c.559 p.A187T 1 "superfamily_Kinase_like,HMMPfam_Choline_kinase" "superfamily_Kinase_like,HMMPfam_Choline_kinase" - no_errors ETNK2 55224 genome.wustl.edu 36 1 202383259 202383259 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 202383259 202383259 G T SNP ETNK2 ENST00000367198 human ensembl 54_36p -1 known missense c.68 p.T23K 0 HMMPfam_Choline_kinase "HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like)" - no_start_codon PPP1R15B 84919 genome.wustl.edu 36 1 202646965 202646965 + Silent SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 202646965 202646965 C A SNP PPP1R15B NM_032833 human genbank 54_36p -1 validated silent c.198 p.L66 0.75 HMMPfam_CReP_N "HMMPfam_CReP_N,HMMPfam_PP1c_bdg" - no_errors NFASC 23114 genome.wustl.edu 36 1 203236956 203236956 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203236956 203236956 C T SNP NFASC ENST00000367172 human ensembl 54_36p 1 known missense c.3376 p.L1126F 0.51 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors NUAK2 81788 genome.wustl.edu 36 1 203539936 203539936 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203539936 203539936 G A SNP NUAK2 NM_030952 human genbank 54_36p -1 provisional silent c.1152 p.A384 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors UBXN10 127733 genome.wustl.edu 36 1 20389680 20389680 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 20389680 20389680 G A SNP UBXN10 NM_152376 human genbank 54_36p 1 provisional silent c.39 p.E13 0 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00166,HMMPfam_UBX" - no_errors SLC45A3 85414 genome.wustl.edu 36 1 203898616 203898616 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203898616 203898616 G A SNP SLC45A3 NM_033102 human genbank 54_36p -1 validated missense c.926 p.P309L 1 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC45A3 85414 genome.wustl.edu 36 1 203898728 203898728 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203898728 203898728 G C SNP SLC45A3 NM_033102 human genbank 54_36p -1 validated missense c.814 p.R272G 1 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors RAB7L1 8934 genome.wustl.edu 36 1 204007251 204007251 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204007251 204007251 G A SNP RAB7L1 NM_003929 human genbank 54_36p -1 validated missense c.350 p.P117L 0.88 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors AVPR1B 553 genome.wustl.edu 36 1 204391626 204391626 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204391626 204391626 C A SNP AVPR1B NM_000707 human genbank 54_36p 1 reviewed missense c.563 p.A188E 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors AVPR1B 553 genome.wustl.edu 36 1 204391958 204391958 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204391958 204391958 A - DEL AVPR1B NM_000707 human genbank 54_36p 1 reviewed frame_shift_del c.895 p.S299fs 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" "(deletion:cds_exon[204391064,204392003])" no_errors SRGAP2 23380 genome.wustl.edu 36 1 204633631 204633631 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204633631 204633631 A G SNP SRGAP2 ENST00000295713 human ensembl 54_36p 1 known missense c.551 p.H184R 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_start_codon SRGAP2 23380 genome.wustl.edu 36 1 204698858 204698858 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204698858 204698858 C A SNP SRGAP2 ENST00000367123 human ensembl 54_36p 1 known missense c.728 p.A243E 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_stop_codon IKBKE 9641 genome.wustl.edu 36 1 204719028 204719028 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204719028 204719028 C T SNP IKBKE NM_014002 human genbank 54_36p 1 validated missense c.1112 p.A371V 1 NULL "PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP" - no_errors IKBKE 9641 genome.wustl.edu 36 1 204719852 204719852 + Silent SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204719852 204719852 C T SNP IKBKE NM_014002 human genbank 54_36p 1 validated silent c.1200 p.P400 1 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors FCAMR 83953 genome.wustl.edu 36 1 205207598 205207598 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205207598 205207598 C G SNP FCAMR ENST00000400962 human ensembl 54_36p -1 known missense c.61 p.E21Q 0 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors C4BPB 725 genome.wustl.edu 36 1 205336565 205336565 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205336565 205336565 G T SNP C4BPB NM_000716 human genbank 54_36p 1 reviewed missense c.485 p.S162I 0.06 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CR1 1378 genome.wustl.edu 36 1 205807862 205807862 + Silent SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205807862 205807862 C A SNP CR1 NM_000651 human genbank 54_36p 1 reviewed silent c.4023 p.P1341 0.05 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CR1 1378 genome.wustl.edu 36 1 205851743 205851743 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205851743 205851743 A T SNP CR1 NM_000651 human genbank 54_36p 1 reviewed missense c.6394 p.S2132C 0 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" - no_errors CD34 947 genome.wustl.edu 36 1 206128671 206128671 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 206128671 206128671 C G SNP CD34 NM_001025109 human genbank 54_36p -1 validated missense c.951 p.W317C 1 HMMPfam_CD34_antigen HMMPfam_CD34_antigen - no_errors PLXNA2 5362 genome.wustl.edu 36 1 206457025 206457025 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 206457025 206457025 T A SNP PLXNA2 NM_025179 human genbank 54_36p -1 reviewed missense c.866 p.K289M 1 "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors LAMB3 3914 genome.wustl.edu 36 1 207857413 207857413 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 207857413 207857413 C A SNP LAMB3 NM_000228 human genbank 54_36p -1 reviewed nonsense c.3193 p.E1065* 0 NULL "HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors TRAF3IP3 80342 genome.wustl.edu 36 1 208015458 208015458 + Splice_Site SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208015458 208015458 G T SNP TRAF3IP3 NM_025228 human genbank 54_36p 1 provisional splice_site c.855+1 e8+1 1 - - - no_errors C1orf107 27042 genome.wustl.edu 36 1 208070891 208070893 + In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 GAG GAG GAG - GAG GAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208070891 208070893 GAG - DEL C1orf107 NM_014388 human genbank 54_36p 1 validated in_frame_del c.268_270 p.E93in_frame_del 0.861:0.831:0.735 NULL HMMPfam_DUF1253 "(deletion:cds_exon[208070771,208071011])" no_errors C1orf107 27042 genome.wustl.edu 36 1 208082350 208082351 + Missense_Mutation DNP GG GG CT novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 GG GG GG CT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208082350 208082351 GG CT DNP C1orf107 NM_014388 human genbank 54_36p 1 validated missense c.1603_1604 p.G535L 1.000:1.000 HMMPfam_DUF1253 HMMPfam_DUF1253 - no_errors KIF17 57576 genome.wustl.edu 36 1 20865316 20865316 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 20865316 20865316 G T SNP KIF17 NM_020816 human genbank 54_36p -1 validated missense c.2889 p.S963R 1 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HHAT 55733 genome.wustl.edu 36 1 208658139 208658139 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 208658139 208658139 G A SNP HHAT NM_018194 human genbank 54_36p 1 validated missense c.703 p.D235N 0 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors HHAT 55733 genome.wustl.edu 36 1 208753155 208753155 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208753155 208753155 G A SNP HHAT NM_018194 human genbank 54_36p 1 validated missense c.1043 p.R348K 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors KIF17 57576 genome.wustl.edu 36 1 20889296 20889296 + Silent SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 20889296 20889296 C T SNP KIF17 NM_020816 human genbank 54_36p -1 validated silent c.1353 p.T451 0.94 NULL "HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540" - no_errors KCNH1 3756 genome.wustl.edu 36 1 208923393 208923393 + Silent SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 208923393 208923393 G A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed silent c.2823 p.N941 0.16 NULL "superfamily_PYP-like sensor domain (PAS domain),HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors KCNH1 3756 genome.wustl.edu 36 1 208924017 208924017 + Silent SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208924017 208924017 C T SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed silent c.2199 p.P733 0.67 NULL "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors KCNH1 3756 genome.wustl.edu 36 1 209044047 209044047 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209044047 209044047 A G SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1547 p.L516P 1 superfamily_cAMP-binding domain-like "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors KCNH1 3756 genome.wustl.edu 36 1 209258748 209258748 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209258748 209258748 C A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1032 p.Q344H 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors RD3 343035 genome.wustl.edu 36 1 209721351 209721351 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209721351 209721351 G A SNP RD3 NM_183059 human genbank 54_36p -1 validated silent c.30 p.N10 0.98 NULL NULL - no_errors SLC30A1 7779 genome.wustl.edu 36 1 209815995 209815995 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209815995 209815995 A C SNP SLC30A1 NM_021194 human genbank 54_36p -1 validated missense c.882 p.F294L 0.97 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors CENPF 1063 genome.wustl.edu 36 1 212862097 212862097 + Silent SNP A A G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212862097 212862097 A G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed silent c.918 p.K306 1 NULL "HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F" - no_errors CENPF 1063 genome.wustl.edu 36 1 212882145 212882145 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212882145 212882145 A G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed missense c.3841 p.T1281A 0.01 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors CENPF 1063 genome.wustl.edu 36 1 212882202 212882202 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212882202 212882202 C T SNP CENPF NM_016343 human genbank 54_36p 1 reviewed silent c.3898 p.L1300 0.01 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors CENPF 1063 genome.wustl.edu 36 1 212887123 212887123 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212887123 212887123 T G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed missense c.7587 p.N2529K 0 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors KCTD3 51133 genome.wustl.edu 36 1 213813754 213813754 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 213813754 213813754 T G SNP KCTD3 NM_016121 human genbank 54_36p 1 validated missense c.86 p.F29C 1 "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1" - no_errors ESRRG 2104 genome.wustl.edu 36 1 214917271 214917271 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214917271 214917271 G A SNP ESRRG NM_001438 human genbank 54_36p -1 validated missense c.242 p.S81L 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors NBPF3 84224 genome.wustl.edu 36 1 21670841 21670841 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 21670841 21670841 C G SNP NBPF3 NM_032264 human genbank 54_36p 1 validated missense c.639 p.H213Q 0 NULL HMMPfam_DUF1220 - no_errors ALPL 249 genome.wustl.edu 36 1 21760242 21760242 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 21760242 21760242 G A SNP ALPL NM_000478 human genbank 54_36p 1 reviewed missense c.247 p.E83K 1 "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc" "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE" - no_errors ZC3H11B 643136 genome.wustl.edu 36 1 217850050 217850050 + RNA SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 217850050 217850050 C A SNP ZC3H11B XR_041768 human genbank 54_36p -1 model rna NULL NULL 0.11 - - - pseudogene EPRS 2058 genome.wustl.edu 36 1 218228735 218228735 + Silent SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 218228735 218228735 T C SNP EPRS NM_004446 human genbank 54_36p -1 reviewed silent c.2595 p.K865 1 "superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS" ############################################################################################################################################################################################################################################################### - no_errors IARS2 55699 genome.wustl.edu 36 1 218378008 218378008 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 218378008 218378008 G C SNP IARS2 NM_018060 human genbank 54_36p 1 validated missense c.2175 p.K725N 1 superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases ############################################################################################################################################################################################################################################################### - no_errors RAP1GAP 5909 genome.wustl.edu 36 1 21850624 21850624 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 21850624 21850624 C T SNP RAP1GAP ENST00000374757 human ensembl 54_36p -1 known silent c.126 p.V42 0 NULL "HMMPfam_GoLoco,HMMSmart_GoLoco,superfamily_SSF111347" - no_errors USP48 84196 genome.wustl.edu 36 1 21894209 21894209 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 21894209 21894209 T A SNP USP48 NM_032236 human genbank 54_36p -1 reviewed missense c.2820 p.K940N 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Ubiquitin-like" - no_errors HSPG2 3339 genome.wustl.edu 36 1 22074827 22074827 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22074827 22074827 G T SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.3184 p.Q1062K 0.99 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281,HMMPfam_Laminin_B" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 genome.wustl.edu 36 1 22078135 22078135 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22078135 22078135 T C SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.2410 p.M804V 0.93 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors TLR5 7100 genome.wustl.edu 36 1 221352673 221352673 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 221352673 221352673 G T SNP TLR5 NM_003268 human genbank 54_36p -1 validated nonsense c.324 p.Y108* 0.01 "superfamily_SSF52058,HMMSmart_LRR_TYP" "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors TP53BP2 7159 genome.wustl.edu 36 1 222046844 222046844 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 222046844 222046844 C G SNP TP53BP2 NM_001031685 human genbank 54_36p -1 reviewed missense c.2866 p.D956H 0.99 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors WNT4 54361 genome.wustl.edu 36 1 22320651 22320651 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22320651 22320651 G A SNP WNT4 NM_030761 human genbank 54_36p -1 reviewed missense c.319 p.R107W 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT4 54361 genome.wustl.edu 36 1 22326371 22326371 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22326371 22326371 G A SNP WNT4 ENST00000374655 human ensembl 54_36p -1 known silent c.504 p.T168 0 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097" - no_errors ENAH 55740 genome.wustl.edu 36 1 223768935 223768935 + Silent SNP T T G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 223768935 223768935 T G SNP ENAH NM_001008493 human genbank 54_36p -1 validated silent c.1204 p.R402 0.99 NULL "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_VASP_tetra" - no_errors TMEM63A 9725 genome.wustl.edu 36 1 224101408 224101408 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 224101408 224101408 G A SNP TMEM63A NM_014698 human genbank 54_36p -1 provisional nonsense c.2380 p.Q794* 0.02 NULL "superfamily_SSF54928,HMMPfam_DUF221" - no_errors ITPKB 3707 genome.wustl.edu 36 1 224896358 224896358 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 224896358 224896358 C T SNP ITPKB NM_002221 human genbank 54_36p -1 reviewed missense c.2338 p.A780T 1 "HMMPfam_IPK,superfamily_SAICAR synthase-like" "HMMPfam_IPK,superfamily_SAICAR synthase-like" - no_errors ITPKB 3707 genome.wustl.edu 36 1 224990219 224990219 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 224990219 224990219 G A SNP ITPKB NM_002221 human genbank 54_36p -1 reviewed missense c.1564 p.R522C 0 NULL "HMMPfam_IPK,superfamily_SAICAR synthase-like" - no_errors SNAP47 116841 genome.wustl.edu 36 1 226013795 226013795 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226013795 226013795 C G SNP SNAP47 NM_053052 human genbank 54_36p 1 validated nonsense c.1109 p.S370* 0.01 NULL NULL - no_errors WNT9A 7483 genome.wustl.edu 36 1 226178521 226178521 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 226178521 226178521 G A SNP WNT9A NM_003395 human genbank 54_36p -1 validated missense c.556 p.R186W 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT3A 89780 genome.wustl.edu 36 1 226277096 226277096 + Silent SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226277096 226277096 C T SNP WNT3A NM_033131 human genbank 54_36p 1 reviewed silent c.177 p.Y59 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors OBSCN 84033 genome.wustl.edu 36 1 226499829 226499829 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226499829 226499829 C G SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.3574 p.Q1192E 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" ############################################################################################################################################################################################################################################################### - no_errors OBSCN 84033 genome.wustl.edu 36 1 226511219 226511219 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226511219 226511219 C G SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.4554 p.S1518R 0.92 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors TRIM17 51127 genome.wustl.edu 36 1 226662587 226662587 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226662587 226662587 G T SNP TRIM17 NM_001024940 human genbank 54_36p -1 reviewed missense c.1372 p.L458M 0.97 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors RAB4A 5867 genome.wustl.edu 36 1 227505312 227505312 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 227505312 227505312 G A SNP RAB4A NM_004578 human genbank 54_36p 1 provisional missense c.622 p.A208T 0.94 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00176" "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors GALNT2 2590 genome.wustl.edu 36 1 228452888 228452888 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 228452888 228452888 A T SNP GALNT2 NM_004481 human genbank 54_36p 1 reviewed missense c.968 p.K323M 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors CAPN9 10753 genome.wustl.edu 36 1 228995244 228995244 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 228995244 228995244 A T SNP CAPN9 NM_006615 human genbank 54_36p 1 reviewed missense c.1817 p.D606V 1 "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1" ############################################################################################################################################################################################################################################################### - no_errors TRIM67 440730 genome.wustl.edu 36 1 229409060 229409060 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229409060 229409060 G A SNP TRIM67 NM_001004342 human genbank 54_36p 1 validated missense c.1720 p.G574S 1 "HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060" ############################################################################################################################################################################################################################################################### - no_errors TRIM67 440730 genome.wustl.edu 36 1 229411375 229411375 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229411375 229411375 A G SNP TRIM67 NM_001004342 human genbank 54_36p 1 validated missense c.1879 p.N627D 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors GNPAT 8443 genome.wustl.edu 36 1 229465158 229465159 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 CT CT CT - CT CT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229465158 229465159 CT - DEL GNPAT NM_014236 human genbank 54_36p 1 reviewed frame_shift_del c.505_506 p.L169fs 1.000:1.000 "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" "(deletion:cds_exon[229465092,229465221])" no_errors GNPAT 8443 genome.wustl.edu 36 1 229474686 229474686 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229474686 229474686 G T SNP GNPAT NM_014236 human genbank 54_36p 1 reviewed missense c.1528 p.V510F 1 NULL "HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593" - no_errors EPHB2 2048 genome.wustl.edu 36 1 23064266 23064266 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23064266 23064266 C G SNP EPHB2 NM_004442 human genbank 54_36p 1 reviewed missense c.1277 p.S426C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors KIAA1383 54627 genome.wustl.edu 36 1 231008926 231008926 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 231008926 231008926 C G SNP KIAA1383 NM_019090 human genbank 54_36p 1 validated missense c.1534 p.P512A 0.01 NULL NULL - no_errors EPHB2 2048 genome.wustl.edu 36 1 23112740 23112740 + Silent SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23112740 23112740 C A SNP EPHB2 ENST00000374630 human ensembl 54_36p 1 known silent c.2958 p.G986 0.66 NULL ############################################################################################################################################################################################################################################################### - no_errors C1orf57 84284 genome.wustl.edu 36 1 231180580 231180580 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 231180580 231180580 G A SNP C1orf57 NM_032324 human genbank 54_36p 1 predicted missense c.553 p.V185M 0.66 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF265" "HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF265" - no_errors LOC728973 728973 genome.wustl.edu 36 1 231491760 231491760 + RNA SNP G G T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 231491760 231491760 G T SNP LOC728973 XR_015809 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene KDM1A 23028 genome.wustl.edu 36 1 23229651 23229651 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23229651 23229651 C A SNP AOF2 NM_015013 human genbank 54_36p 1 reviewed missense c.454 p.P152T 1 NULL "HMMPfam_SWIRM,superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" - no_errors SLC35F3 148641 genome.wustl.edu 36 1 232433917 232433917 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 232433917 232433917 G A SNP SLC35F3 NM_173508 human genbank 54_36p 1 provisional missense c.415 p.V139M 0.96 NULL "superfamily_SSF103481,HMMPfam_DUF6" - no_errors TARBP1 6894 genome.wustl.edu 36 1 232620564 232620564 + Silent SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 232620564 232620564 A G SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed silent c.3594 p.A1198 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase" - no_errors RBM34 23029 genome.wustl.edu 36 1 233390906 233390906 + Silent SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 233390906 233390906 A G SNP RBM34 NM_015014 human genbank 54_36p -1 provisional silent c.138 p.G46 0 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ARID4B 51742 genome.wustl.edu 36 1 233411552 233411552 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 233411552 233411552 T C SNP ARID4B NM_016374 human genbank 54_36p -1 reviewed missense c.3305 p.N1102S 1 NULL "HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors LYST 1130 genome.wustl.edu 36 1 233964493 233964493 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 233964493 233964493 C T SNP LYST NM_000081 human genbank 54_36p -1 reviewed silent c.8448 p.L2816 0.05 NULL "PatternScan_COPPER_BLUE,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LYST 1130 genome.wustl.edu 36 1 234032919 234032919 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234032919 234032919 C A SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.3624 p.Q1208H 1 NULL "HMMPfam_Beach,superfamily_BEACH domain,PatternScan_COPPER_BLUE,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_PH domain-like" - no_errors LYST 1130 genome.wustl.edu 36 1 234036550 234036550 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234036550 234036550 G A SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.2509 p.P837S 0.52 NULL "HMMPfam_Beach,superfamily_BEACH domain,PatternScan_COPPER_BLUE,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_PH domain-like" - no_errors LGALS8 3964 genome.wustl.edu 36 1 234767484 234767484 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234767484 234767484 G A SNP LGALS8 NM_006499 human genbank 54_36p 1 reviewed missense c.110 p.G37E 1 "superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin" "superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin" - no_errors ACTN2 88 genome.wustl.edu 36 1 234972931 234972931 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234972931 234972931 G T SNP ACTN2 NM_001103 human genbank 54_36p 1 reviewed missense c.1220 p.R407M 0.78 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors RYR2 6262 genome.wustl.edu 36 1 235722886 235722886 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235722886 235722886 G A SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.1837 p.V613I 0.98 HMMPfam_RYDR_ITPR "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR2 6262 genome.wustl.edu 36 1 235844061 235844061 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235844061 235844061 C G SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5010 p.H1670Q 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235844285 235844285 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235844285 235844285 A C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5234 p.K1745T 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235904746 235904746 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235904746 235904746 C G SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.8807 p.A2936G 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235930157 235930157 + Missense_Mutation SNP T A T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 235930157 235930157 T A SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.9134 p.V3045E 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235930267 235930267 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235930267 235930267 C A SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.9244 p.H3082N 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235947258 235947258 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235947258 235947258 G C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.10461 p.E3487D 0.99 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 236003483 236003483 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 236003483 236003483 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.11687 p.D3896V 1 HMMPfam_RIH_assoc "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 236031821 236031821 + Silent SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 236031821 236031821 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed silent c.14133 p.G4711 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 236060514 236060514 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 236060514 236060514 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.14717 p.E4906V 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors CHRM3 1131 genome.wustl.edu 36 1 238138533 238138533 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G C G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 238138533 238138533 G C SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.1159 p.D387H 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CHRM3 1131 genome.wustl.edu 36 1 238138701 238138701 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 238138701 238138701 G A SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.1327 p.V443I 0.02 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors MDS2 259283 genome.wustl.edu 36 1 23838327 23838327 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23838327 23838327 A G SNP MDS2 ENST00000374555 human ensembl 54_36p 1 known missense c.145 p.S49G 0 NULL NULL - no_errors MDS2 259283 genome.wustl.edu 36 1 23838757 23838757 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23838757 23838757 C A SNP MDS2 ENST00000374555 human ensembl 54_36p 1 known missense c.147 p.S49R 0.03 NULL NULL - no_errors FMN2 56776 genome.wustl.edu 36 1 238437160 238437160 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 238437160 238437160 C A SNP FMN2 NM_020066 human genbank 54_36p 1 validated missense c.2854 p.Q952K 0.6 HMMSmart_SM00498 "PatternScan_LECTIN_LEGUME_BETA,HMMSmart_SM00498,HMMPfam_Drf_FH1,superfamily_Formin homology 2 domain (FH2 domain),HMMPfam_FH2" - no_errors RGS7 6000 genome.wustl.edu 36 1 239032743 239032743 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239032743 239032743 C T SNP RGS7 ENST00000407905 human ensembl 54_36p -1 known missense c.1361 p.G454D 0 superfamily_Regulat_G_prot_signal_superfam "superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_stop_codon RGS7 6000 genome.wustl.edu 36 1 239099994 239099994 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239099994 239099994 A T SNP RGS7 NM_002924 human genbank 54_36p -1 validated missense c.434 p.L145H 1 NULL "superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors RGS7 6000 genome.wustl.edu 36 1 239328677 239328677 + Silent SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239328677 239328677 G A SNP RGS7 NM_002924 human genbank 54_36p -1 validated silent c.87 p.D29 1 superfamily_SSF46785 "HMMPfam_RGS,HMMSmart_RGS,HMMPfam_DEP,HMMSmart_DEP,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_G-protein_gamma-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF46785" - no_errors FH 2271 genome.wustl.edu 36 1 239730425 239730425 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239730425 239730425 G C SNP FH NM_000143 human genbank 54_36p -1 reviewed missense c.1325 p.T442R 1 superfamily_L-aspartase-like "superfamily_L-aspartase-like,HMMPfam_Lyase_1,PatternScan_FUMARATE_LYASES,HMMPfam_FumaraseC_C" - no_errors KMO 8564 genome.wustl.edu 36 1 239798427 239798427 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 239798427 239798427 C A SNP KMO NM_003679 human genbank 54_36p 1 validated missense c.814 p.L272I 0.99 superfamily_FAD/NAD(P)-binding domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO" - no_errors KMO 8564 genome.wustl.edu 36 1 239820012 239820012 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239820012 239820012 T G SNP KMO NM_003679 human genbank 54_36p 1 validated missense c.1174 p.S392A 0.29 superfamily_FAD/NAD(P)-binding domain "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain" - no_errors EXO1 9156 genome.wustl.edu 36 1 240083293 240083293 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240083293 240083293 G A SNP EXO1 NM_006027 human genbank 54_36p 1 reviewed missense c.292 p.A98T 0.98 "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like" "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors MAP1LC3C 440738 genome.wustl.edu 36 1 240226291 240226291 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240226291 240226291 C T SNP MAP1LC3C NM_001004343 human genbank 54_36p -1 validated missense c.241 p.A81T 0.1 "superfamily_SSF54236,HMMPfam_MAP1_LC3" "superfamily_SSF54236,HMMPfam_MAP1_LC3" - no_errors PLD5 200150 genome.wustl.edu 36 1 240343860 240343860 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240343860 240343860 A C SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.749 p.I250S 1 "HMMPfam_PLD_envelope,superfamily_SSF56024" "superfamily_SSF56024,HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope" - no_errors PLD5 200150 genome.wustl.edu 36 1 240354478 240354478 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240354478 240354478 C A SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.572 p.W191L 1 HMMPfam_PLD_envelope "HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope,superfamily_SSF56024" - no_errors LOC646330 646330 genome.wustl.edu 36 1 24100689 24100689 + RNA SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 24100689 24100689 G A SNP LOC646330 XR_017189 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CEP170 9859 genome.wustl.edu 36 1 241402644 241402644 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 241402644 241402644 G A SNP CEP170 NM_014812 human genbank 54_36p -1 reviewed missense c.1694 p.T565I 1 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA" - no_errors ADSS 159 genome.wustl.edu 36 1 242645991 242645991 + Silent SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 242645991 242645991 G C SNP ADSS NM_001126 human genbank 54_36p -1 reviewed silent c.1083 p.T361 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_1,PatternScan_ADENYLOSUCCIN_SYN_2" - no_errors ADSS 159 genome.wustl.edu 36 1 242653964 242653964 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 242653964 242653964 G T SNP ADSS NM_001126 human genbank 54_36p -1 reviewed silent c.495 p.G165 0.85 "HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_2,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_2,PatternScan_ADENYLOSUCCIN_SYN_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF26B 55083 genome.wustl.edu 36 1 243770770 243770770 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243770770 243770770 C T SNP KIF26B NM_018012 human genbank 54_36p 1 provisional silent c.1245 p.L415 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" - no_errors KIF26B 55083 genome.wustl.edu 36 1 243770848 243770848 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243770848 243770848 G C SNP KIF26B NM_018012 human genbank 54_36p 1 provisional missense c.1323 p.K441N 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF26B 55083 genome.wustl.edu 36 1 243876204 243876207 + Splice_Site DEL AAGT AAGT - novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 AAGT AAGT AAGT - AAGT AAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243876204 243876207 AAGT - DEL KIF26B NM_018012 human genbank 54_36p 1 provisional splice_site_del c.2257_2258 p.K753fs 1.000:1.000 "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" "(deletion:cds_exon[243876046,243876205], intron[243876206,243914157])" no_errors KIF26B 55083 genome.wustl.edu 36 1 243928855 243928855 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243928855 243928855 G A SNP KIF26B NM_018012 human genbank 54_36p 1 provisional missense c.6071 p.R2024H 1 NULL "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TFB2M 64216 genome.wustl.edu 36 1 244770987 244770987 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 244770987 244770987 C G SNP TFB2M NM_022366 human genbank 54_36p -1 validated missense c.1160 p.W387S 0.31 NULL "PatternScan_RRNA_A_DIMETH,superfamily_SSF53335,HMMPfam_RrnaAD" - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245080990 245080990 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245080990 245080990 A T SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.4941 p.S1647R 0.86 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245087640 245087640 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245087640 245087640 A T SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.4232 p.L1411H 0.08 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245137665 245137665 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245137665 245137665 C G SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.575 p.G192A 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors ZNF496 84838 genome.wustl.edu 36 1 245531178 245531178 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245531178 245531178 C G SNP ZNF496 NM_032752 human genbank 54_36p -1 provisional missense c.1030 p.E344Q 0 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NLRP3 114548 genome.wustl.edu 36 1 245648896 245648896 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245648896 245648896 C G SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.177 p.I59M 0.93 "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN" "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1" - no_errors NLRP3 114548 genome.wustl.edu 36 1 245654347 245654347 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245654347 245654347 C G SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.979 p.R327G 0.09 HMMPfam_NACHT "HMMPfam_LRR_1,HMMSmart_LRR_RI,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors NLRP3 114548 genome.wustl.edu 36 1 245666066 245666066 + Splice_Site SNP G G C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245666066 245666066 G C SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed splice_site c.2669+1 e6+1 1 - - - no_errors NLRP3 114548 genome.wustl.edu 36 1 245673982 245673982 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245673982 245673982 C G SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.2755 p.L919V 0.33 "HMMPfam_LRR_1,superfamily_SSF52047" "HMMPfam_LRR_1,HMMSmart_LRR_RI,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors OR2W5 441932 genome.wustl.edu 36 1 245721382 245721382 + Silent SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245721382 245721382 C A SNP OR2W5 NM_001004698 human genbank 54_36p 1 provisional silent c.330 p.T110 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR2C3 81472 genome.wustl.edu 36 1 245761802 245761802 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245761802 245761802 A C SNP OR2C3 NM_198074 human genbank 54_36p -1 validated missense c.632 p.L211R 0.12 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR14K1 343170 genome.wustl.edu 36 1 245968742 245968742 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245968742 245968742 A T SNP OR14K1 ENST00000283225 human ensembl 54_36p 1 known missense c.203 p.D68V 0.08 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2L8 391190 genome.wustl.edu 36 1 246179561 246179561 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246179561 246179561 G C SNP OR2L8 NM_001001963 human genbank 54_36p 1 provisional missense c.779 p.R260P 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2AK2 391191 genome.wustl.edu 36 1 246195322 246195322 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246195322 246195322 T A SNP OR2AK2 NM_001004491 human genbank 54_36p 1 provisional missense c.66 p.S22R 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2L1P 26247 genome.wustl.edu 36 1 246220752 246220752 + RNA SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246220752 246220752 C T SNP OR2L1P NR_002145 human genbank 54_36p 1 provisional rna NULL NULL 0.02 - - - pseudogene OR2T33 391195 genome.wustl.edu 36 1 246502789 246502789 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246502789 246502789 G T SNP OR2T33 NM_001004695 human genbank 54_36p -1 provisional missense c.951 p.H317Q 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T6 254879 genome.wustl.edu 36 1 246617696 246617696 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246617696 246617696 T C SNP OR2T6 NM_001005471 human genbank 54_36p 1 provisional missense c.164 p.L55P 0.99 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2G6 391211 genome.wustl.edu 36 1 246752148 246752148 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246752148 246752148 C T SNP OR2G6 NM_001013355 human genbank 54_36p 1 validated missense c.578 p.T193I 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T34 127068 genome.wustl.edu 36 1 246804504 246804504 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246804504 246804504 G T SNP OR2T34 NM_001001821 human genbank 54_36p -1 provisional missense c.178 p.L60I 0.96 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T35 403244 genome.wustl.edu 36 1 246868520 246868520 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 246868520 246868520 G A SNP OR2T35 NM_001001827 human genbank 54_36p -1 provisional silent c.663 p.I221 0.42 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PGBD2 267002 genome.wustl.edu 36 1 247178593 247178593 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 247178593 247178593 G C SNP PGBD2 NM_170725 human genbank 54_36p 1 validated missense c.1187 p.G396A 1 NULL NULL - no_errors SRRM1 10250 genome.wustl.edu 36 1 24850623 24850623 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 24850623 24850623 A G SNP SRRM1 NM_005839 human genbank 54_36p 1 validated missense c.658 p.T220A 0.82 NULL "superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI" - no_errors LDLRAP1 26119 genome.wustl.edu 36 1 25753004 25753004 + Silent SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 25753004 25753004 G T SNP LDLRAP1 NM_015627 human genbank 54_36p 1 reviewed silent c.93 p.L31 1 superfamily_SSF50729 "superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" - no_errors SEPN1 57190 genome.wustl.edu 36 1 26007750 26007750 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 26007750 26007750 T A SNP SEPN1 ENST00000354177 human ensembl 54_36p 1 known silent c.528 p.L176 0.69 NULL NULL - no_errors ZNF683 257101 genome.wustl.edu 36 1 26566839 26566839 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26566839 26566839 C G SNP ZNF683 NM_173574 human genbank 54_36p -1 validated missense c.151 p.D51H 0.01 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARID1A 8289 genome.wustl.edu 36 1 26960004 26960004 + Nonsense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26960004 26960004 C G SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed nonsense c.1991 p.S664* 1 NULL "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors ARID1A 8289 genome.wustl.edu 36 1 26974783 26974783 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26974783 26974783 C T SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed nonsense c.5122 p.Q1708* 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like" - no_errors PIGV 55650 genome.wustl.edu 36 1 26993844 26993844 + Silent SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26993844 26993844 G T SNP PIGV NM_017837 human genbank 54_36p 1 validated silent c.732 p.S244 0 HMMPfam_Mannosyl_trans2 HMMPfam_Mannosyl_trans2 - no_errors C1orf172 126695 genome.wustl.edu 36 1 27150987 27150987 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27150987 27150987 T C SNP C1orf172 NM_152365 human genbank 54_36p -1 predicted missense c.472 p.S158G 1 NULL NULL - no_errors SLC9A1 6548 genome.wustl.edu 36 1 27300285 27300285 + Silent SNP G A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27300285 27300285 G A SNP SLC9A1 NM_003047 human genbank 54_36p -1 validated silent c.2106 p.G702 1 NULL HMMPfam_Na_H_Exchanger - no_errors WDTC1 23038 genome.wustl.edu 36 1 27505417 27505417 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27505417 27505417 G A SNP WDTC1 NM_015023 human genbank 54_36p 1 validated missense c.1987 p.D663N 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,superfamily_TPR-like,HMMSmart_SM00028" - no_errors SYTL1 84958 genome.wustl.edu 36 1 27549949 27549949 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27549949 27549949 C A SNP SYTL1 NM_032872 human genbank 54_36p 1 provisional missense c.1047 p.N349K 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "PatternScan_ATPASE_ALPHA_BETA,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors RPA2 6118 genome.wustl.edu 36 1 28113723 28113723 + Splice_Site SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28113723 28113723 A C SNP RPA2 ENST00000373909 human ensembl 54_36p -1 known splice_site c.34+2 e1+2 0 - - - no_errors EYA3 2140 genome.wustl.edu 36 1 28234668 28234668 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28234668 28234668 G T SNP EYA3 NM_001990 human genbank 54_36p -1 reviewed missense c.335 p.T112N 1 NULL HMMPfam_Hydrolase - no_errors SESN2 83667 genome.wustl.edu 36 1 28474027 28474027 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28474027 28474027 C T SNP SESN2 NM_031459 human genbank 54_36p 1 reviewed silent c.1125 p.Y375 1 HMMPfam_PA26 "HMMPfam_PA26,superfamily_SSF69118" - no_errors YTHDF2 51441 genome.wustl.edu 36 1 28942432 28942432 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28942432 28942432 C T SNP YTHDF2 NM_016258 human genbank 54_36p 1 validated missense c.1063 p.R355W 1 NULL HMMPfam_YTH - no_errors OPRD1 4985 genome.wustl.edu 36 1 29058393 29058393 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 29058393 29058393 C A SNP OPRD1 NM_000911 human genbank 54_36p 1 validated missense c.568 p.R190S 0.5 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MECR 51102 genome.wustl.edu 36 1 29395312 29395312 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 29395312 29395312 G A SNP MECR ENST00000373792 human ensembl 54_36p -1 known missense c.757 p.R253C 0.42 NULL "HMMPfam_ADH_N,superfamily_GroES-like" - no_errors MECR 51102 genome.wustl.edu 36 1 29401139 29401139 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 29401139 29401139 T A SNP MECR NM_016011 human genbank 54_36p -1 validated missense c.659 p.D220V 0.97 "HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains" "superfamily_GroES-like,HMMPfam_ADH_zinc_N,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors SDC3 9672 genome.wustl.edu 36 1 31122403 31122403 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31122403 31122403 C T SNP SDC3 NM_014654 human genbank 54_36p -1 validated silent c.453 p.E151 0.99 HMMPfam_Syndecan "HMMPfam_Syndecan,HMMSmart_SM00294,PatternScan_SYNDECAN" - no_errors PUM1 9698 genome.wustl.edu 36 1 31211533 31211533 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31211533 31211533 T C SNP PUM1 NM_001020658 human genbank 54_36p -1 reviewed missense c.1969 p.S657G 1 NULL "superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025" - no_errors HCRTR1 3061 genome.wustl.edu 36 1 31857836 31857836 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31857836 31857836 G T SNP HCRTR1 NM_001525 human genbank 54_36p 1 reviewed missense c.316 p.V106L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors COL16A1 1307 genome.wustl.edu 36 1 31919092 31919092 + Splice_Site SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31919092 31919092 C T SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed splice_site c.2610+1 e38+1 1 - - - no_errors COL16A1 1307 genome.wustl.edu 36 1 31924299 31924299 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31924299 31924299 C T SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed missense c.1864 p.A622T 0.59 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL16A1 1307 genome.wustl.edu 36 1 31936097 31936097 + Silent SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31936097 31936097 G C SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed silent c.654 p.V218 0.13 "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases" "HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors BAI2 576 genome.wustl.edu 36 1 31994579 31994579 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31994579 31994579 G T SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.446 p.T149N 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32029433 32029433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32029433 32029433 C T SNP SPOCD1 ENST00000294514 human ensembl 54_36p -1 known missense c.863 p.R288K 0.86 HMMPfam_SPOC "HMMSmart_SM00510,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC" - no_start_codon SPOCD1 90853 genome.wustl.edu 36 1 32036456 32036456 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32036456 32036456 A C SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.2084 p.M695R 1 "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510" "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32038045 32038045 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32038045 32038045 G C SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.1735 p.P579A 0 NULL "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32053079 32053079 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32053079 32053079 G T SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.443 p.A148D 0 NULL "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors TXLNA 200081 genome.wustl.edu 36 1 32433268 32433268 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32433268 32433268 G T SNP TXLNA NM_175852 human genbank 54_36p 1 validated missense c.1526 p.G509V 0.14 NULL HMMPfam_Taxilin - no_errors IQCC 55721 genome.wustl.edu 36 1 32444411 32444411 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32444411 32444411 C G SNP IQCC NM_018134 human genbank 54_36p 1 provisional missense c.112 p.R38G 0.74 NULL HMMPfam_IQ - no_errors MARCKSL1 65108 genome.wustl.edu 36 1 32572997 32572997 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32572997 32572997 G A SNP MARCKSL1 NM_023009 human genbank 54_36p -1 validated nonsense c.376 p.Q126* 1 NULL "HMMPfam_MARCKS,PatternScan_MARCKS_1,PatternScan_MARCKS_2" - no_errors RBBP4 5928 genome.wustl.edu 36 1 32895695 32895695 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32895695 32895695 C A SNP RBBP4 NM_005610 human genbank 54_36p 1 reviewed missense c.245 p.A82D 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FNDC5 252995 genome.wustl.edu 36 1 33106019 33106019 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33106019 33106019 T A SNP FNDC5 NM_153756 human genbank 54_36p -1 provisional missense c.196 p.M66L 1 NULL "superfamily_FN_III-like,HMMPfam_fn3" - no_errors AK2 204 genome.wustl.edu 36 1 33251378 33251378 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33251378 33251378 C G SNP AK2 NM_001625 human genbank 54_36p -1 reviewed missense c.711 p.M237I 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE,superfamily_Microbial and mitochondrial ADK insert zinc finger domain,HMMPfam_ADK_lid" - no_errors ADC 113451 genome.wustl.edu 36 1 33332896 33332896 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33332896 33332896 G C SNP ADC NM_052998 human genbank 54_36p 1 validated missense c.748 p.E250Q 1 "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,superfamily_Alanine racemase C-terminal domain-like" "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC" - no_errors ZSCAN20 7579 genome.wustl.edu 36 1 33717802 33717802 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33717802 33717802 C A SNP ZSCAN20 NM_145238 human genbank 54_36p 1 validated missense c.326 p.T109N 0.99 "HMMPfam_SCAN,HMMSmart_SM00431" "HMMPfam_SCAN,HMMSmart_SM00431,HMMSmart_SM00717,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZSCAN20 7579 genome.wustl.edu 36 1 33731718 33731718 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33731718 33731718 A G SNP ZSCAN20 NM_145238 human genbank 54_36p 1 validated missense c.1789 p.T597A 0 NULL "HMMSmart_SM00717,HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ARHGEF16 27237 genome.wustl.edu 36 1 3379574 3379574 + Silent SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 3379574 3379574 G A SNP ARHGEF16 NM_014448 human genbank 54_36p 1 reviewed silent c.231 p.E77 0.94 "HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_RhoGEF" "HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_1" - no_errors CSMD2 114784 genome.wustl.edu 36 1 33805984 33805984 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33805984 33805984 C T SNP CSMD2 ENST00000373381 human ensembl 54_36p -1 known missense c.8176 p.D2726N 0 NULL "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC" - no_errors GJB5 2709 genome.wustl.edu 36 1 34996257 34996257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 34996257 34996257 G A SNP GJB5 NM_005268 human genbank 54_36p 1 provisional missense c.739 p.D247N 0.86 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors GJB4 127534 genome.wustl.edu 36 1 35000167 35000167 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 35000167 35000167 G T SNP GJB4 NM_153212 human genbank 54_36p 1 validated missense c.725 p.G242V 0 NULL "HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors DLGAP3 58512 genome.wustl.edu 36 1 35105308 35105308 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 35105308 35105308 G C SNP DLGAP3 NM_001080418 human genbank 54_36p -1 provisional missense c.2649 p.I883M 0.99 HMMPfam_GKAP HMMPfam_GKAP - no_errors ZMYM6 9204 genome.wustl.edu 36 1 35226961 35226961 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35226961 35226961 A C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated missense c.2309 p.I770S 1 NULL "HMMPfam_zf-FCS,HMMSmart_SM00746" - no_errors ZMYM6 9204 genome.wustl.edu 36 1 35247025 35247025 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35247025 35247025 T C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated missense c.1580 p.N527S 0.99 "HMMPfam_zf-FCS,HMMSmart_SM00746" "HMMPfam_zf-FCS,HMMSmart_SM00746" - no_errors SFPQ 6421 genome.wustl.edu 36 1 35427386 35427394 + In_Frame_Del DEL GATTTGCCT GATTTGCCT - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GATTTGCCT GATTTGCCT GATTTGCCT - GATTTGCCT GATTTGCCT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35427386 35427394 GATTTGCCT - DEL SFPQ NM_005066 human genbank 54_36p -1 validated in_frame_del c.1600_1592 p.QAN531in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_NOPS" "(deletion:cds_exon[35427374,35427570])" no_errors CLSPN 63967 genome.wustl.edu 36 1 35998743 35998743 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35998743 35998743 G C SNP CLSPN NM_022111 human genbank 54_36p -1 reviewed missense c.1366 p.L456V 0.16 NULL NULL - no_errors EIF2C1 26523 genome.wustl.edu 36 1 36140456 36140456 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36140456 36140456 G T SNP EIF2C1 NM_012199 human genbank 54_36p 1 reviewed missense c.1328 p.G443V 1 NULL "superfamily_PAZ domain,HMMPfam_DUF1785,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi" - no_errors TP73 7161 genome.wustl.edu 36 1 3614185 3614185 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 3614185 3614185 G T SNP TP73 NM_005427 human genbank 54_36p 1 reviewed missense c.399 p.Q133H 1 "HMMPfam_P53,superfamily_p53-like transcription factors" "HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain" - no_errors THRAP3 9967 genome.wustl.edu 36 1 36527461 36527461 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36527461 36527461 T G SNP THRAP3 NM_005119 human genbank 54_36p 1 validated missense c.1254 p.F418L 1 NULL NULL - no_errors THRAP3 9967 genome.wustl.edu 36 1 36534860 36534860 + Silent SNP T T A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36534860 36534860 T A SNP THRAP3 NM_005119 human genbank 54_36p 1 validated silent c.2205 p.G735 0.98 NULL NULL - no_errors OSCP1 127700 genome.wustl.edu 36 1 36656411 36656411 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36656411 36656411 G C SNP C1orf102 NM_145047 human genbank 54_36p -1 validated missense c.1086 p.I362M 1 NULL HMMPfam_Oscp1 - no_errors DFFB 1677 genome.wustl.edu 36 1 3772119 3772119 + Silent SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 3772119 3772119 T C SNP DFFB ENST00000378212 human ensembl 54_36p 1 known silent c.294 p.P98 0 NULL "superfamily_SSF54277,HMMPfam_CIDE-N" - no_errors DNALI1 7802 genome.wustl.edu 36 1 37799838 37799838 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 37799838 37799838 A G SNP DNALI1 NM_003462 human genbank 54_36p 1 reviewed missense c.557 p.Y186C 1 HMMPfam_Ax_dynein_light HMMPfam_Ax_dynein_light - no_errors MTF1 4520 genome.wustl.edu 36 1 38076900 38076900 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 38076900 38076900 C T SNP MTF1 NM_005955 human genbank 54_36p -1 reviewed missense c.763 p.G255R 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MACF1 23499 genome.wustl.edu 36 1 39677659 39677659 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 39677659 39677659 C G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.13676 p.A4559G 1 "superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC" "superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2" - no_errors BMP8B 656 genome.wustl.edu 36 1 40002958 40002958 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 40002958 40002958 T C SNP BMP8B NM_001720 human genbank 54_36p -1 reviewed silent c.792 p.A264 0.98 NULL "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors CAP1 10487 genome.wustl.edu 36 1 40302763 40302763 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 40302763 40302763 A G SNP CAP1 NM_001105530 human genbank 54_36p 1 reviewed missense c.469 p.M157V 1 "HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP" "HMMPfam_CAP_N,PatternScan_CAP_1,superfamily_N-terminal domain of adenylylcyclase associated protein CAP,HMMPfam_CAP_C,superfamily_C-terminal domain of adenylylcyclase associated protein,HMMSmart_SM00673,PatternScan_CAP_2" - no_errors HIVEP3 59269 genome.wustl.edu 36 1 41820483 41820483 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 41820483 41820483 A G SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.2573 p.I858T 1 NULL "PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors YBX1 4904 genome.wustl.edu 36 1 42934991 42934991 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42934991 42934991 C G SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.446 p.P149R 1 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK" - no_errors YBX1 4904 genome.wustl.edu 36 1 42935444 42935444 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42935444 42935444 G C SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.664 p.D222H 1 NULL "HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK" - no_errors YBX1 4904 genome.wustl.edu 36 1 42939246 42939246 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42939246 42939246 C T SNP YBX1 NM_004559 human genbank 54_36p 1 validated silent c.948 p.P316 1 NULL "HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK" - no_errors LEPRE1 64175 genome.wustl.edu 36 1 42996119 42996119 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42996119 42996119 G A SNP LEPRE1 NM_022356 human genbank 54_36p -1 reviewed silent c.1002 p.D334 0.99 superfamily_SSF48452 "superfamily_SSF48452,HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" - no_errors ZNF691 51058 genome.wustl.edu 36 1 43089259 43089259 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43089259 43089259 G A SNP ZNF691 NM_015911 human genbank 54_36p 1 provisional missense c.43 p.E15K 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FAM183A 440585 genome.wustl.edu 36 1 43389041 43389041 + Silent SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43389041 43389041 C G SNP FAM183A NM_001101376 human genbank 54_36p 1 validated silent c.156 p.P52 1 NULL NULL - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43664194 43664194 + Silent SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43664194 43664194 G A SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted silent c.390 p.P130 0 NULL NULL - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43669239 43669239 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43669239 43669239 G A SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted missense c.2110 p.V704I 0 NULL NULL - no_errors HYI 81888 genome.wustl.edu 36 1 43690208 43690208 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43690208 43690208 C T SNP HYI NM_031207 human genbank 54_36p -1 provisional missense c.271 p.D91N 1 "superfamily_Xyl_isomerase-like_TIM-brl,HMMPfam_AP_endonuc_2" "superfamily_Xyl_isomerase-like_TIM-brl,HMMPfam_AP_endonuc_2" - no_errors PTPRF 5792 genome.wustl.edu 36 1 43842098 43842098 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43842098 43842098 C G SNP PTPRF NM_002840 human genbank 54_36p 1 reviewed missense c.2688 p.N896K 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" ############################################################################################################################################################################################################################################################### - no_errors ST3GAL3 6487 genome.wustl.edu 36 1 44063084 44063084 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44063084 44063084 C G SNP ST3GAL3 NM_174963 human genbank 54_36p 1 reviewed missense c.349 p.P117A 0 NULL HMMPfam_Glyco_transf_29 - no_errors B4GALT2 8704 genome.wustl.edu 36 1 44223557 44223557 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44223557 44223557 T G SNP B4GALT2 NM_001005417 human genbank 54_36p 1 reviewed missense c.761 p.F254C 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Galactosyl_T_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Galactosyl_T_2" - no_errors LOC644743 644743 genome.wustl.edu 36 1 44342745 44342745 + RNA SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 44342745 44342745 C T SNP LOC644743 XR_016703 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC644743 644743 genome.wustl.edu 36 1 44342810 44342810 + RNA SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44342810 44342810 C T SNP LOC644743 XR_016703 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RNF220 55182 genome.wustl.edu 36 1 44650891 44650891 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44650891 44650891 G A SNP RNF220 NM_018150 human genbank 54_36p 1 validated missense c.535 p.V179I 1 NULL superfamily_RING/U-box - no_errors PTCH2 8643 genome.wustl.edu 36 1 45070287 45070287 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 45070287 45070287 T A SNP PTCH2 NM_003738 human genbank 54_36p -1 validated nonsense c.472 p.K158* 1 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors LOC128192 128192 genome.wustl.edu 36 1 45226714 45226714 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 45226714 45226714 G A SNP LOC128192 XM_060887 human genbank 54_36p -1 model missense c.271 p.H91Y 1 "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase" "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors TESK2 10420 genome.wustl.edu 36 1 45583360 45583360 + Silent SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 45583360 45583360 G C SNP TESK2 NM_007170 human genbank 54_36p -1 reviewed silent c.1455 p.R485 0.98 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors TESK2 10420 genome.wustl.edu 36 1 45660000 45660000 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 45660000 45660000 G A SNP TESK2 NM_007170 human genbank 54_36p -1 reviewed missense c.328 p.H110Y 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors MAST2 23139 genome.wustl.edu 36 1 46264028 46264028 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 46264028 46264028 T A SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.1873 p.Y625N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" - no_errors MAST2 23139 genome.wustl.edu 36 1 46267163 46267163 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46267163 46267163 C T SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.2189 p.P730L 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors MAST2 23139 genome.wustl.edu 36 1 46274325 46274325 + Nonstop_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46274325 46274325 G C SNP MAST2 NM_015112 human genbank 54_36p 1 validated nonstop c.5397 p.*1799Y 0.78 NULL "HMMSmart_SM00219,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors TSPAN1 10103 genome.wustl.edu 36 1 46423344 46423344 + Silent SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46423344 46423344 C T SNP TSPAN1 NM_005727 human genbank 54_36p 1 reviewed silent c.564 p.T188 0 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors C1orf190 541468 genome.wustl.edu 36 1 46441791 46441791 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46441791 46441791 G C SNP C1orf190 NM_001013615 human genbank 54_36p 1 validated missense c.106 p.E36Q 0.99 NULL NULL - no_errors RAD54L 8438 genome.wustl.edu 36 1 46516416 46516416 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46516416 46516416 A G SNP RAD54L NM_003579 human genbank 54_36p 1 reviewed missense c.2119 p.N707D 1 NULL "HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors FAAH 2166 genome.wustl.edu 36 1 46644044 46644044 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46644044 46644044 A G SNP FAAH NM_001441 human genbank 54_36p 1 reviewed missense c.776 p.N259S 0.81 "superfamily_Amidase_sig_enz,HMMPfam_Amidase" "superfamily_Amidase_sig_enz,HMMPfam_Amidase,PatternScan_AMIDASES" - no_errors DMBX1 127343 genome.wustl.edu 36 1 46750477 46750477 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46750477 46750477 G A SNP DMBX1 NM_147192 human genbank 54_36p 1 reviewed silent c.873 p.P291 0.84 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors MKNK1 8569 genome.wustl.edu 36 1 46824234 46824234 + Splice_Site SNP C G C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 46824234 46824234 C G SNP MKNK1 ENST00000371949 human ensembl 54_36p -1 known splice_site c.1-1 e1-1 1 - - - no_errors CYP4Z2P 163720 genome.wustl.edu 36 1 47097990 47097990 + RNA SNP A A C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 47097990 47097990 A C SNP CYP4Z2P NR_002788 human genbank 54_36p -1 provisional rna NULL NULL 0.99 - - - pseudogene CYP4A11 1579 genome.wustl.edu 36 1 47171248 47171248 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 47171248 47171248 G T SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.1281 p.N427K 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP4X1 260293 genome.wustl.edu 36 1 47274354 47274354 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 47274354 47274354 C G SNP CYP4X1 NM_178033 human genbank 54_36p 1 reviewed missense c.699 p.H233Q 1 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors SLC5A9 200010 genome.wustl.edu 36 1 48470284 48470284 + Silent SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 48470284 48470284 C A SNP SLC5A9 NM_001011547 human genbank 54_36p 1 validated silent c.825 p.T275 1 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors SLC5A9 200010 genome.wustl.edu 36 1 48477635 48477635 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 48477635 48477635 C T SNP SLC5A9 NM_001011547 human genbank 54_36p 1 validated silent c.1570 p.L524 1 NULL "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors SPATA6 54558 genome.wustl.edu 36 1 48593979 48593979 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 48593979 48593979 G A SNP SPATA6 NM_019073 human genbank 54_36p -1 provisional missense c.1144 p.R382W 1 NULL NULL - no_errors LOC343184 343184 genome.wustl.edu 36 1 50564582 50564582 + RNA SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 50564582 50564582 C T SNP LOC343184 XR_016832 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene FAF1 11124 genome.wustl.edu 36 1 50713925 50713925 + Silent SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 50713925 50713925 G C SNP FAF1 NM_007051 human genbank 54_36p -1 reviewed silent c.1668 p.S556 1 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00594,HMMSmart_SM00166,HMMPfam_UBX" - no_errors CFLP2 391039 genome.wustl.edu 36 1 51396749 51396749 + RNA SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 51396749 51396749 G C SNP LOC391039 XR_017560 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene ZFYVE9 9372 genome.wustl.edu 36 1 52584418 52584418 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 52584418 52584418 C G SNP ZFYVE9 NM_004799 human genbank 54_36p 1 reviewed missense c.4215 p.C1405W 1 NULL "HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors ZCCHC11 23318 genome.wustl.edu 36 1 52713761 52713761 + Silent SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 52713761 52713761 G A SNP ZCCHC11 NM_001009881 human genbank 54_36p -1 validated silent c.2058 p.S686 1 superfamily_PAP/OAS1 substrate-binding domain "PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2" - no_errors SLC1A7 6512 genome.wustl.edu 36 1 53327187 53327187 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 53327187 53327187 T A SNP SLC1A7 NM_006671 human genbank 54_36p -1 validated missense c.1414 p.I472F 1 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors CDCP2 200008 genome.wustl.edu 36 1 54378331 54378331 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 54378331 54378331 T A SNP CDCP2 NM_201546 human genbank 54_36p -1 provisional missense c.800 p.N267I 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors PARS2 25973 genome.wustl.edu 36 1 54996168 54996168 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 54996168 54996168 C A SNP PARS2 NM_152268 human genbank 54_36p -1 provisional nonsense c.1255 p.G419* 1 "superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors BSND 7809 genome.wustl.edu 36 1 55245270 55245270 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 55245270 55245270 G A SNP BSND NM_057176 human genbank 54_36p 1 reviewed silent c.285 p.Q95 0.97 NULL NULL - no_errors PCSK9 255738 genome.wustl.edu 36 1 55296327 55296327 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 55296327 55296327 C A SNP PCSK9 NM_174936 human genbank 54_36p 1 reviewed missense c.1211 p.P404Q 0.51 "superfamily_Subtilisin-like,HMMPfam_Peptidase_S8" "superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8" - no_errors USP24 23358 genome.wustl.edu 36 1 55316852 55316852 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 55316852 55316852 A G SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.6781 p.Y2261H 1 NULL "superfamily_Ubiquitin-like,PatternScan_SUGAR_TRANSPORT_1,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors OR4F5 79501 genome.wustl.edu 36 1 59401 59401 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 59401 59401 G A SNP OR4F5 NM_001005484 human genbank 54_36p 1 provisional missense c.448 p.V150M 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FGGY 55277 genome.wustl.edu 36 1 60000837 60000837 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 60000837 60000837 A G SNP FGGY NM_018291 human genbank 54_36p 1 validated missense c.1313 p.D438G 0.02 NULL "superfamily_SSF53067,HMMPfam_FGGY_C" - no_errors CYP2J2 1573 genome.wustl.edu 36 1 60131951 60131951 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 60131951 60131951 G T SNP CYP2J2 NM_000775 human genbank 54_36p -1 reviewed missense c.1469 p.S490Y 0.07 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CHD5 26038 genome.wustl.edu 36 1 6129510 6129511 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 6129510 6129511 - G INS CHD5 NM_015557 human genbank 54_36p -1 provisional frame_shift_ins c.1392_1391 p.L465fs 0.408:0.998 "superfamily_FYVE_PHD_ZnF,superfamily_Chromodomain-like" ############################################################################################################################################################################################################################################################### - no_errors TM2D1 83941 genome.wustl.edu 36 1 61963351 61963351 + Silent SNP A C C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 61963351 61963351 A C SNP TM2D1 NM_032027 human genbank 54_36p -1 reviewed silent c.30 p.S10 0 NULL HMMPfam_TM2 - no_errors KANK4 163782 genome.wustl.edu 36 1 62509743 62509743 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 62509743 62509743 G A SNP KANK4 NM_181712 human genbank 54_36p -1 validated silent c.2007 p.N669 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors USP1 7398 genome.wustl.edu 36 1 62688607 62688607 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 62688607 62688607 C G SNP USP1 NM_001017415 human genbank 54_36p 1 reviewed missense c.1725 p.S575R 1 "superfamily_SSF54001,HMMPfam_UCH" "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors DOCK7 85440 genome.wustl.edu 36 1 62892020 62892020 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 62892020 62892020 C G SNP DOCK7 NM_033407 human genbank 54_36p -1 validated missense c.353 p.R118T 1 NULL HMMPfam_Ded_cyto - no_errors ATG4C 84938 genome.wustl.edu 36 1 63102353 63102353 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 63102353 63102353 C A SNP ATG4C NM_032852 human genbank 54_36p 1 reviewed missense c.1312 p.L438I 1 NULL HMMPfam_Peptidase_C54 - no_errors PGM1 5236 genome.wustl.edu 36 1 63874627 63874627 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 63874627 63874627 C T SNP PGM1 NM_002633 human genbank 54_36p 1 provisional silent c.1008 p.P336 1 "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_III" "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,PatternScan_PGM_PMM,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase C-terminal domain,HMMPfam_PGM_PMM_IV" - no_errors ROR1 4919 genome.wustl.edu 36 1 64375704 64375704 + Missense_Mutation SNP G A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 64375704 64375704 G A SNP ROR1 NM_005012 human genbank 54_36p 1 validated missense c.547 p.G183S 1 HMMPfam_Fz ############################################################################################################################################################################################################################################################### - no_errors CACHD1 57685 genome.wustl.edu 36 1 64902807 64902807 + Silent SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 64902807 64902807 C G SNP CACHD1 NM_020925 human genbank 54_36p 1 validated silent c.1980 p.V660 1 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Cache_1,superfamily_Winged helix DNA-binding domain" - no_errors TAS1R1 80835 genome.wustl.edu 36 1 6553862 6553862 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 6553862 6553862 G C SNP TAS1R1 NM_138697 human genbank 54_36p 1 reviewed missense c.498 p.M166I 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors DNAJC6 9829 genome.wustl.edu 36 1 65627639 65627639 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 65627639 65627639 G T SNP DNAJC6 NM_014787 human genbank 54_36p 1 validated nonsense c.1135 p.E379* 1 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ" - no_errors WDR78 79819 genome.wustl.edu 36 1 67131676 67131676 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67131676 67131676 G T SNP WDR78 NM_024763 human genbank 54_36p -1 validated missense c.354 p.D118E 0.01 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors MIER1 57708 genome.wustl.edu 36 1 67184458 67184458 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67184458 67184458 A G SNP MIER1 NM_020948 human genbank 54_36p 1 validated missense c.143 p.H48R 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region IL12RB2 3595 genome.wustl.edu 36 1 67560092 67560092 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67560092 67560092 T G SNP IL12RB2 NM_001559 human genbank 54_36p 1 reviewed missense c.296 p.F99C 0.86 HMMPfam_Lep_receptor_Ig "HMMPfam_Lep_receptor_Ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors IL12RB2 3595 genome.wustl.edu 36 1 67567950 67567950 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67567950 67567950 C A SNP IL12RB2 NM_001559 human genbank 54_36p 1 reviewed missense c.757 p.L253M 0.06 "HMMSmart_SM00060,superfamily_Fibronectin type III" "PatternScan_HEMATOPO_REC_L_F2,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_Lep_receptor_Ig" - no_errors CAMTA1 23261 genome.wustl.edu 36 1 6807755 6807755 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 6807755 6807755 C T SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated silent c.132 p.S44 1 NULL "HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ" - no_errors LOC645291 645291 genome.wustl.edu 36 1 68401297 68401297 + RNA SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 68401297 68401297 C T SNP LOC645291 XR_017617 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LRRC7 57554 genome.wustl.edu 36 1 69916717 69916717 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 69916717 69916717 G T SNP LRRC7 ENST00000370958 human ensembl 54_36p 1 known missense c.68 p.R23L 0.99 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70277021 70277021 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70277021 70277021 G C SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.2812 p.D938H 1 NULL "superfamily_L domain-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70277270 70277270 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70277270 70277270 G T SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.3061 p.A1021S 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70291391 70291391 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70291391 70291391 T A SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.4091 p.V1364E 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70346078 70346078 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70346078 70346078 C A SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.4487 p.P1496H 1 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors NEGR1 257194 genome.wustl.edu 36 1 71849314 71849314 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 71849314 71849314 C A SNP NEGR1 NM_173808 human genbank 54_36p -1 validated missense c.771 p.W257C 1 "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig" - no_errors LRRIQ3 127255 genome.wustl.edu 36 1 74279558 74279558 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 74279558 74279558 T A SNP LRRIQ3 NM_001105659 human genbank 54_36p -1 inferred missense c.1645 p.S549C 0.02 NULL "superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1" - no_errors C1orf173 127254 genome.wustl.edu 36 1 74859093 74859093 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 74859093 74859093 G T SNP C1orf173 NM_001002912 human genbank 54_36p -1 predicted missense c.913 p.P305T 0 NULL NULL - no_errors TYW3 127253 genome.wustl.edu 36 1 74974865 74974865 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 74974865 74974865 A G SNP TYW3 NM_138467 human genbank 54_36p 1 provisional missense c.226 p.T76A 1 "HMMPfam_TYW3,superfamily_DUF207" "HMMPfam_TYW3,superfamily_DUF207" - no_errors LHX8 431707 genome.wustl.edu 36 1 75381411 75381411 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 75381411 75381411 C T SNP LHX8 NM_001001933 human genbank 54_36p 1 validated missense c.410 p.S137F 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ACADM 34 genome.wustl.edu 36 1 75978367 75978367 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 75978367 75978367 G A SNP ACADM NM_000016 human genbank 54_36p 1 reviewed missense c.583 p.G195R 1 "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_M" "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2" - no_errors MSH4 4438 genome.wustl.edu 36 1 76127640 76127640 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 76127640 76127640 G T SNP MSH4 NM_002440 human genbank 54_36p 1 validated nonsense c.2224 p.E742* 1 "HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac" "superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" - no_errors CAMTA1 23261 genome.wustl.edu 36 1 7646014 7646014 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 7646014 7646014 G A SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated missense c.820 p.V274M 1 NULL "HMMPfam_IQ,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_TIG,HMMPfam_CG-1,superfamily_E set domains,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LOC729708 729708 genome.wustl.edu 36 1 76938324 76938324 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 76938324 76938324 G A SNP LOC729708 XM_001133949 human genbank 54_36p 1 model missense c.263 p.R88K 1 "superfamily_Triophos_ismrse,HMMPfam_TIM" "superfamily_Triophos_ismrse,HMMPfam_TIM,PatternScan_TIM" - pseudogene ZZZ3 26009 genome.wustl.edu 36 1 77817877 77817877 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 77817877 77817877 T C SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional missense c.2005 p.K669E 1 "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like" "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors ZZZ3 26009 genome.wustl.edu 36 1 77870816 77870816 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 77870816 77870816 G A SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional missense c.812 p.S271L 0.99 NULL "HMMPfam_ZZ,PatternScan_ZF_ZZ_1,HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding" - no_errors USP33 23032 genome.wustl.edu 36 1 77952922 77952922 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 77952922 77952922 G C SNP USP33 NM_015017 human genbank 54_36p -1 validated missense c.2273 p.P758R 1 HMMSmart_SM00695 "HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_SM00695" - no_errors PER3 8863 genome.wustl.edu 36 1 7802824 7802824 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 7802824 7802824 C T SNP PER3 NM_016831 human genbank 54_36p 1 reviewed missense c.1697 p.T566I 1 NULL "HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC" - no_errors PTGFR 5737 genome.wustl.edu 36 1 78774697 78774697 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 78774697 78774697 G T SNP PTGFR NM_000959 human genbank 54_36p 1 reviewed nonsense c.817 p.G273* 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ELTD1 64123 genome.wustl.edu 36 1 79156241 79156241 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 79156241 79156241 A G SNP ELTD1 NM_022159 human genbank 54_36p -1 validated missense c.1544 p.L515P 1 HMMPfam_7tm_2 "HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EF_HAND_1,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors LOC729779 729779 genome.wustl.edu 36 1 79293223 79293223 + RNA SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 79293223 79293223 G A SNP LOC729779 XR_016024 human genbank 54_36p -1 model rna NULL NULL 0.85 - - - pseudogene LOC729828 729828 genome.wustl.edu 36 1 81960068 81960068 + RNA SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 81960068 81960068 G A SNP LOC729828 XR_015671 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene LOC729828 729828 genome.wustl.edu 36 1 81961201 81961201 + RNA SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 81961201 81961201 T C SNP LOC729828 XR_015671 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene MCOLN2 255231 genome.wustl.edu 36 1 85194704 85194704 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 85194704 85194704 A G SNP MCOLN2 NM_153259 human genbank 54_36p -1 reviewed missense c.563 p.L188P 0.87 NULL HMMPfam_Ion_trans - no_errors SYDE2 84144 genome.wustl.edu 36 1 85428505 85428505 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 85428505 85428505 A C SNP SYDE2 NM_032184 human genbank 54_36p -1 validated missense c.1264 p.S422A 0.27 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors C1orf52 148423 genome.wustl.edu 36 1 85497664 85497664 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 85497664 85497664 C G SNP C1orf52 NM_198077 human genbank 54_36p -1 validated missense c.241 p.D81H 1 NULL NULL - no_errors COL24A1 255631 genome.wustl.edu 36 1 86106812 86106812 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 86106812 86106812 C T SNP COL24A1 NM_152890 human genbank 54_36p -1 validated missense c.3278 p.R1093K 0.92 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL24A1 255631 genome.wustl.edu 36 1 86270166 86270173 + Frame_Shift_Del DEL CCGGAGGA CCGGAGGA - novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 CCGGAGGA CCGGAGGA CCGGAGGA - CCGGAGGA CCGGAGGA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 86270166 86270173 CCGGAGGA - DEL COL24A1 NM_152890 human genbank 54_36p -1 validated frame_shift_del c.2032_2025 p.P676fs 0.994:0.956:0.998:1.000:1.000:1.000:0.999:0.978 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "(deletion:cds_exon[86270149,86270193])" no_errors COL24A1 255631 genome.wustl.edu 36 1 86297400 86297400 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 86297400 86297400 C A SNP COL24A1 NM_152890 human genbank 54_36p -1 validated missense c.1798 p.G600C 1 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors CLCA2 9635 genome.wustl.edu 36 1 86672867 86672867 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 86672867 86672867 G T SNP CLCA2 NM_006536 human genbank 54_36p 1 reviewed missense c.823 p.A275S 0.74 NULL "HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973" - no_errors NOC2L 26155 genome.wustl.edu 36 1 871755 871755 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 871755 871755 T G SNP NOC2L NM_015658 human genbank 54_36p -1 validated missense c.1693 p.N565H 1 HMMPfam_Noc2 HMMPfam_Noc2 - no_errors ENO1 2023 genome.wustl.edu 36 1 8846605 8846605 + Silent SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 8846605 8846605 G A SNP ENO1 NM_001428 human genbank 54_36p -1 reviewed silent c.999 p.N333 0 "superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C" "HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like,superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C,PatternScan_ENOLASE" - no_errors ENO1 2023 genome.wustl.edu 36 1 8849058 8849058 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 8849058 8849058 G A SNP ENO1 NM_001428 human genbank 54_36p -1 reviewed silent c.534 p.F178 1 "HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like" "HMMPfam_Enolase_C,HMMPfam_Enolase_N,PatternScan_ENOLASE,superfamily_Enolase C-terminal domain-like,superfamily_Enolase N-terminal domain-like" - no_errors GBP1 2633 genome.wustl.edu 36 1 89295139 89295139 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 89295139 89295139 G A SNP GBP1 NM_002053 human genbank 54_36p -1 validated nonsense c.1141 p.Q381* 1 "HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors GBP2 2634 genome.wustl.edu 36 1 89358540 89358540 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 89358540 89358540 G A SNP GBP2 NM_004120 human genbank 54_36p -1 reviewed missense c.338 p.S113F 1 "superfamily_SSF52540,HMMPfam_GBP" "superfamily_SSF52540,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_GBP" - no_errors GBP7 388646 genome.wustl.edu 36 1 89410183 89410183 + Silent SNP T T A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 89410183 89410183 T A SNP GBP7 NM_207398 human genbank 54_36p -1 validated silent c.24 p.P8 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors LRRC8D 55144 genome.wustl.edu 36 1 90172643 90172643 + Silent SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 90172643 90172643 G C SNP LRRC8D NM_018103 human genbank 54_36p 1 validated silent c.1428 p.L476 0.86 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors SLC2A5 6518 genome.wustl.edu 36 1 9021500 9021500 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 9021500 9021500 C T SNP SLC2A5 NM_003039 human genbank 54_36p -1 validated missense c.1072 p.V358M 0.82 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors ZNF326 284695 genome.wustl.edu 36 1 90255585 90255585 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 90255585 90255585 G T SNP ZNF326 NM_182976 human genbank 54_36p 1 validated missense c.1048 p.D350Y 1 HMMPfam_AKAP95 HMMPfam_AKAP95 - no_errors BARHL2 343472 genome.wustl.edu 36 1 90950709 90950709 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 90950709 90950709 G C SNP BARHL2 NM_020063 human genbank 54_36p -1 validated nonsense c.912 p.Y304* 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors LOC646784 646784 genome.wustl.edu 36 1 91262861 91262861 + RNA SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 91262861 91262861 C T SNP LOC646784 XR_017249 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene HFM1 164045 genome.wustl.edu 36 1 91554067 91554067 + Silent SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 91554067 91554067 T C SNP HFM1 NM_001017975 human genbank 54_36p -1 validated silent c.3033 p.L1011 0.97 HMMPfam_Sec63 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_Sec63" - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91936263 91936263 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 91936263 91936263 C G SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated missense c.2300 p.S767T 0.23 NULL "HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1" - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91958158 91958158 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 91958158 91958158 G A SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated silent c.1293 p.S431 0 NULL "HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1" - no_errors BRDT 676 genome.wustl.edu 36 1 92214479 92214479 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 92214479 92214479 T G SNP BRDT NM_001726 human genbank 54_36p 1 validated missense c.514 p.F172V 0 NULL "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors EVI5 7813 genome.wustl.edu 36 1 92751926 92751926 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 92751926 92751926 G T SNP EVI5 NM_005665 human genbank 54_36p -1 validated missense c.2308 p.P770T 0.96 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors CCDC18 343099 genome.wustl.edu 36 1 93450248 93450248 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 93450248 93450248 T G SNP CCDC18 NM_206886 human genbank 54_36p 1 validated missense c.1691 p.I564S 1 NULL superfamily_Prefoldin - no_errors BCAR3 8412 genome.wustl.edu 36 1 93827462 93827462 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 93827462 93827462 G C SNP BCAR3 NM_003567 human genbank 54_36p -1 reviewed missense c.589 p.Q197E 1 "superfamily_Ras GEF,HMMSmart_SM00252,HMMPfam_SH2" "superfamily_Ras GEF,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00147" - no_errors GCLM 2730 genome.wustl.edu 36 1 94134880 94134880 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 94134880 94134880 T C SNP GCLM NM_002061 human genbank 54_36p -1 reviewed missense c.422 p.E141G 1 superfamily_NAD(P)-linked oxidoreductase "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" - no_errors ABCA4 24 genome.wustl.edu 36 1 94301362 94301362 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 94301362 94301362 C A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.1654 p.V552L 0.97 NULL "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA4 24 genome.wustl.edu 36 1 94321512 94321512 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 94321512 94321512 G A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.842 p.S281L 1 NULL "HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors DPYD 1806 genome.wustl.edu 36 1 97787702 97787702 + Splice_Site SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 97787702 97787702 A T SNP DPYD NM_000110 human genbank 54_36p -1 reviewed splice_site c.1524+2 e12+2 1 - - - no_errors DPYD 1806 genome.wustl.edu 36 1 97787842 97787842 + Silent SNP T T G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 97787842 97787842 T G SNP DPYD NM_000110 human genbank 54_36p -1 reviewed silent c.1386 p.P462 1 HMMPfam_Pyr_redox_2 "superfamily_Helical_ferredxn,superfamily_SSF51971,HMMPfam_Pyr_redox_2,superfamily_SSF51395,HMMPfam_DHO_dh,superfamily_SSF54862,HMMPfam_Fer4,PatternScan_4FE4S_FER_1" - no_errors DPYD 1806 genome.wustl.edu 36 1 97929868 97929868 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C A C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 97929868 97929868 C A SNP DPYD NM_000110 human genbank 54_36p -1 reviewed missense c.755 p.G252V 1 "HMMPfam_Pyr_redox_2,superfamily_SSF51971" "HMMPfam_Fer4,superfamily_Helical_ferredxn,HMMPfam_DHO_dh,HMMPfam_Pyr_redox_2,PatternScan_4FE4S_FER_1,superfamily_SSF51395,superfamily_SSF51971,superfamily_SSF54862" - no_errors PAP2D 163404 genome.wustl.edu 36 1 99152987 99152987 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 99152987 99152987 C T SNP PAP2D NM_001037317 human genbank 54_36p -1 reviewed missense c.876 p.M292I 1 NULL "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors LPPR4 9890 genome.wustl.edu 36 1 99544845 99544845 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 99544845 99544845 C T SNP LPPR4 NM_014839 human genbank 54_36p 1 reviewed silent c.1983 p.Y661 0.99 NULL "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors LOXL4 84171 genome.wustl.edu 36 10 100001368 100001368 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 100001368 100001368 A G SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed missense c.2033 p.I678T 1 HMMPfam_Lysyl_oxidase "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE" - no_errors ENTPD7 57089 genome.wustl.edu 36 10 101429140 101429140 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 101429140 101429140 C A SNP ENTPD7 NM_020354 human genbank 54_36p 1 validated missense c.324 p.N108K 1 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors CHUK 1147 genome.wustl.edu 36 10 101968473 101968473 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 101968473 101968473 G A SNP CHUK NM_001278 human genbank 54_36p -1 reviewed silent c.789 p.S263 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BLOC1S2 282991 genome.wustl.edu 36 10 102035928 102035928 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102035928 102035928 T C SNP BLOC1S2 NM_173809 human genbank 54_36p -1 validated missense c.88 p.K30E 0.82 HMMPfam_BLOC1_2 HMMPfam_BLOC1_2 - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102046741 102046741 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102046741 102046741 G T SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.1171 p.L391M 1 "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102049456 102049456 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102049456 102049456 C A SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.359 p.G120V 1 NULL "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" - no_errors C10orf2 56652 genome.wustl.edu 36 10 102738267 102738267 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102738267 102738267 A T SNP C10orf2 NM_021830 human genbank 54_36p 1 validated missense c.310 p.I104F 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LZTS2 84445 genome.wustl.edu 36 10 102753671 102753673 + In_Frame_Del DEL TCC TCC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TCC TCC TCC - TCC TCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102753671 102753673 TCC - DEL LZTS2 NM_032429 human genbank 54_36p 1 provisional in_frame_del c.826_828 p.S279in_frame_del 0.987:0.996:0.980 NULL HMMPfam_Fez1 "(deletion:cds_exon[102753254,102753913])" no_errors SFXN3 81855 genome.wustl.edu 36 10 102786216 102786231 + Splice_Site DEL GGCTTTTCCACCCACA GGCTTTTCCACCCACA - novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 GGCTTTTCCACCCACA GGCTTTTCCACCCACA GGCTTTTCCACCCACA - GGCTTTTCCACCCACA GGCTTTTCCACCCACA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102786216 102786231 GGCTTTTCCACCCACA - DEL SFXN3 NM_030971 human genbank 54_36p 1 validated splice_site_del c.444-17_444-2 e5-2 0.195:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.066:0.543:0.964:0.983:0.997:1.000 - - "(deletion:intron[102785849,102786232])" no_errors BTRC 8945 genome.wustl.edu 36 10 103211767 103211767 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 103211767 103211767 C T SNP BTRC NM_033637 human genbank 54_36p 1 reviewed missense c.196 p.P66S 1 NULL "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors MGEA5 10724 genome.wustl.edu 36 10 103536257 103536257 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 103536257 103536257 C A SNP MGEA5 NM_012215 human genbank 54_36p -1 validated nonsense c.2692 p.E898* 1 superfamily_Acyl-CoA N-acyltransferases (Nat) "HMMPfam_NAGidase,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors GBF1 8729 genome.wustl.edu 36 10 104101604 104101604 + Silent SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 104101604 104101604 G C SNP GBF1 NM_004193 human genbank 54_36p 1 provisional silent c.429 p.L143 1 NULL "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7" - no_errors PSD 5662 genome.wustl.edu 36 10 104166563 104166564 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 104166563 104166564 - G INS PSD NM_002779 human genbank 54_36p -1 provisional frame_shift_ins c.223_222 p.S74fs 0.121:0.115 NULL "HMMSmart_SM00222,HMMPfam_Sec7,superfamily_Sec7 domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors TRIM8 81603 genome.wustl.edu 36 10 104407016 104407016 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 104407016 104407016 G C SNP TRIM8 NM_030912 human genbank 54_36p 1 validated missense c.1571 p.W524S 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors INA 9118 genome.wustl.edu 36 10 105038213 105038213 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105038213 105038213 A C SNP INA NM_032727 human genbank 54_36p 1 validated missense c.1297 p.S433R 0.47 NULL "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors TAF5 6877 genome.wustl.edu 36 10 105132993 105132993 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105132993 105132993 C G SNP TAF5 NM_006951 human genbank 54_36p 1 reviewed missense c.1543 p.L515V 1 superfamily_WD40 repeat-like "HMMPfam_TFIID_90kDa,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CALHM1 255022 genome.wustl.edu 36 10 105208155 105208155 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105208155 105208155 A C SNP CALHM1 NM_001001412 human genbank 54_36p -1 validated missense c.344 p.V115G 1 NULL NULL - no_errors C10orf79 80217 genome.wustl.edu 36 10 105917365 105917365 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105917365 105917365 G C SNP C10orf79 ENST00000278064 human ensembl 54_36p -1 known missense c.2605 p.L869V 0.05 NULL "superfamily_WD40_like,HMMSmart_WD40" - no_errors C10orf79 80217 genome.wustl.edu 36 10 105942019 105942019 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105942019 105942019 C T SNP C10orf79 NM_025145 human genbank 54_36p -1 predicted missense c.1474 p.G492R 0.45 superfamily_WD40 repeat-like superfamily_WD40 repeat-like - no_errors CCDC147 159686 genome.wustl.edu 36 10 106108143 106108143 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 106108143 106108143 G C SNP CCDC147 NM_001008723 human genbank 54_36p 1 validated missense c.64 p.D22H 1 NULL NULL - no_errors SORCS3 22986 genome.wustl.edu 36 10 106972958 106972958 + Silent SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 106972958 106972958 G T SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed silent c.2829 p.G943 0.99 superfamily_PKD "superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD" - no_errors SORCS3 22986 genome.wustl.edu 36 10 107012229 107012229 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 107012229 107012229 G A SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed silent c.3594 p.T1198 0.88 NULL "HMMPfam_PKD,superfamily_PKD,HMMSmart_VPS10,superfamily_SSF110296" - no_errors XPNPEP1 7511 genome.wustl.edu 36 10 111618436 111618436 + Silent SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111618436 111618436 G A SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional silent c.1669 p.L557 1 "superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24" "HMMPfam_Creatinase_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE" - no_errors XPNPEP1 7511 genome.wustl.edu 36 10 111620629 111620629 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111620629 111620629 G C SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional missense c.1417 p.R473G 1 "HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase" "HMMPfam_Creatinase_N,HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase,PatternScan_PROLINE_PEPTIDASE" - no_errors ADD3 120 genome.wustl.edu 36 10 111882060 111882060 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111882060 111882060 G C SNP ADD3 NM_016824 human genbank 54_36p 1 reviewed missense c.1740 p.E580D 1 NULL "superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II" - no_errors VTI1A 143187 genome.wustl.edu 36 10 114565097 114565097 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 114565097 114565097 C G SNP VTI1A NM_145206 human genbank 54_36p 1 validated missense c.619 p.L207V 1 NULL "HMMPfam_V-SNARE,HMMSmart_t_SNARE" - no_errors TCF7L2 6934 genome.wustl.edu 36 10 114839151 114839151 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 114839151 114839151 C G SNP TCF7L2 ENST00000352065 human ensembl 54_36p 1 known missense c.489 p.S163R 1 HMMPfam_CTNNB1_binding "HMMPfam_CTNNB1_binding,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors HABP2 3026 genome.wustl.edu 36 10 115328441 115328441 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115328441 115328441 C T SNP HABP2 NM_004132 human genbank 54_36p 1 reviewed nonsense c.634 p.Q212* 0.25 "superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle" ############################################################################################################################################################################################################################################################### - no_errors NRAP 4892 genome.wustl.edu 36 10 115358206 115358206 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115358206 115358206 G T SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.3659 p.P1220H 1 "HMMSmart_SM00227,HMMPfam_Nebulin" "HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,HMMSmart_SM00227,HMMPfam_Nebulin" - no_errors NRAP 4892 genome.wustl.edu 36 10 115390036 115390036 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115390036 115390036 G T SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.1368 p.N456K 1 NULL "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors NRAP 4892 genome.wustl.edu 36 10 115402747 115402747 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115402747 115402747 G T SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.507 p.S169R 1 NULL "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors NHLRC2 374354 genome.wustl.edu 36 10 115658198 115658198 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115658198 115658198 G A SNP NHLRC2 NM_198514 human genbank 54_36p 1 provisional missense c.2094 p.M698I 1 NULL "superfamily_Thioredoxin-like,superfamily_NHL repeat,HMMPfam_NHL" - no_errors AFAP1L2 84632 genome.wustl.edu 36 10 116050271 116050271 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 116050271 116050271 C T SNP AFAP1L2 NM_001001936 human genbank 54_36p -1 validated missense c.1711 p.A571T 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors ABLIM1 3983 genome.wustl.edu 36 10 116407732 116407732 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 116407732 116407732 C T SNP ABLIM1 NM_002313 human genbank 54_36p -1 reviewed missense c.218 p.R73H 0 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors ATRNL1 26033 genome.wustl.edu 36 10 116879136 116879136 + Silent SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 116879136 116879136 T C SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated silent c.678 p.S226 0.1 "superfamily_EGF/Laminin,HMMSmart_SM00181" ############################################################################################################################################################################################################################################################### - no_errors ATRNL1 26033 genome.wustl.edu 36 10 117144159 117144159 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 117144159 117144159 C G SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated missense c.3176 p.A1059G 1 "PatternScan_EGF_LAM_1,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors GFRA1 2674 genome.wustl.edu 36 10 117874815 117874815 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 117874815 117874815 C A SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed missense c.677 p.R226L 1 "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" - no_errors C10orf96 374355 genome.wustl.edu 36 10 118106897 118106897 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118106897 118106897 A G SNP C10orf96 NM_198515 human genbank 54_36p 1 validated missense c.464 p.E155G 1 NULL NULL - no_errors PNLIPRP3 119548 genome.wustl.edu 36 10 118226224 118226224 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118226224 118226224 A T SNP PNLIPRP3 NM_001011709 human genbank 54_36p 1 validated missense c.1243 p.S415C 0.74 "superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,PatternScan_HMG_COA_REDUCTASE_1" - no_errors PNLIP 5406 genome.wustl.edu 36 10 118308707 118308707 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118308707 118308707 G A SNP PNLIP NM_000936 human genbank 54_36p 1 reviewed missense c.982 p.A328T 1 "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors PNLIPRP1 5407 genome.wustl.edu 36 10 118345822 118345822 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118345822 118345822 C A SNP PNLIPRP1 NM_006229 human genbank 54_36p 1 provisional missense c.572 p.T191K 1 "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors VAX1 11023 genome.wustl.edu 36 10 118881738 118881738 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118881738 118881738 G T SNP VAX1 NM_199131 human genbank 54_36p -1 reviewed missense c.533 p.S178Y 0 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors VAX1 11023 genome.wustl.edu 36 10 118885982 118885982 + Silent SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118885982 118885982 G A SNP VAX1 NM_199131 human genbank 54_36p -1 reviewed silent c.420 p.S140 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" - no_errors C10orf84 63877 genome.wustl.edu 36 10 120075697 120075697 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 120075697 120075697 C A SNP C10orf84 NM_022063 human genbank 54_36p -1 validated nonsense c.502 p.E168* 1 NULL NULL - no_errors LOC729666 729666 genome.wustl.edu 36 10 120682652 120682652 + RNA SNP T T A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 120682652 120682652 T A SNP LOC729666 XR_015620 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene GRK5 2869 genome.wustl.edu 36 10 121083300 121083300 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121083300 121083300 C G SNP GRK5 ENST00000369106 human ensembl 54_36p 1 known missense c.180 p.S60R 0 NULL NULL - no_errors BAG3 9531 genome.wustl.edu 36 10 121422103 121422103 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121422103 121422103 C T SNP BAG3 NM_004281 human genbank 54_36p 1 reviewed missense c.854 p.T285M 0.75 NULL "superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF63491,HMMPfam_BAG,HMMSmart_BAG" - no_errors BAG3 9531 genome.wustl.edu 36 10 121426356 121426356 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121426356 121426356 G A SNP BAG3 NM_004281 human genbank 54_36p 1 reviewed missense c.1300 p.G434R 0.31 "HMMPfam_BAG,HMMSmart_BAG,superfamily_SSF63491" "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_BAG,HMMSmart_BAG,superfamily_SSF63491" - no_errors INPP5F 22876 genome.wustl.edu 36 10 121577046 121577046 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121577046 121577046 G T SNP INPP5F NM_014937 human genbank 54_36p 1 reviewed missense c.3163 p.V1055L 0.03 NULL HMMPfam_Syja_N - no_errors C10orf119 79892 genome.wustl.edu 36 10 121609371 121609371 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121609371 121609371 T A SNP C10orf119 NM_024834 human genbank 54_36p -1 validated missense c.74 p.N25I 0.98 NULL HMMPfam_DUF2044 - no_errors SEC23IP 11196 genome.wustl.edu 36 10 121667951 121667951 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121667951 121667951 T G SNP SEC23IP NM_007190 human genbank 54_36p 1 reviewed missense c.1810 p.C604G 0.06 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD" - no_errors TACC2 10579 genome.wustl.edu 36 10 123832305 123832305 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 123832305 123832305 G A SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed silent c.300 p.P100 0 NULL HMMPfam_TACC - no_errors TACC2 10579 genome.wustl.edu 36 10 123833228 123833228 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 123833228 123833228 C T SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.1223 p.S408F 0 NULL HMMPfam_TACC - no_errors TACC2 10579 genome.wustl.edu 36 10 123837268 123837268 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 123837268 123837268 G T SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.5263 p.A1755S 0 NULL HMMPfam_TACC - no_errors DMBT1 1755 genome.wustl.edu 36 10 124380761 124380761 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 124380761 124380761 G A SNP DMBT1 NM_007329 human genbank 54_36p 1 reviewed missense c.5933 p.R1978H 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors LOC729794 729794 genome.wustl.edu 36 10 124479050 124479050 + Silent SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 124479050 124479050 G A SNP LOC729794 XM_001718748 human genbank 54_36p 1 model silent c.279 p.V93 0.02 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors FAM24A 118670 genome.wustl.edu 36 10 124662386 124662386 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 124662386 124662386 T C SNP FAM24A NM_001029888 human genbank 54_36p 1 inferred missense c.244 p.C82R 0.12 NULL NULL - no_errors ACADSB 36 genome.wustl.edu 36 10 124792672 124792672 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 124792672 124792672 G A SNP ACADSB NM_001609 human genbank 54_36p 1 reviewed missense c.802 p.V268I 1 superfamily_Acyl-CoA dehydrogenase NM domain-like "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,HMMPfam_Acyl-CoA_dh_1,PatternScan_ACYL_COA_DH_2" - no_errors CPXM2 119587 genome.wustl.edu 36 10 125496310 125496310 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 125496310 125496310 C T SNP CPXM2 NM_198148 human genbank 54_36p -1 validated missense c.2231 p.R744Q 0.95 superfamily_Carboxypeptidase regulatory domain ############################################################################################################################################################################################################################################################### - no_errors C10orf137 26098 genome.wustl.edu 36 10 127399835 127399835 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127399835 127399835 C G SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.181 p.R61G 0.99 NULL NULL - no_errors MMP21 118856 genome.wustl.edu 36 10 127445243 127445243 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127445243 127445243 T C SNP MMP21 NM_147191 human genbank 54_36p -1 reviewed missense c.1688 p.H563R 0.99 NULL "superfamily_PGBD-like,HMMPfam_PG_binding_1,HMMSmart_SM00235,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" - no_errors DHX32 55760 genome.wustl.edu 36 10 127516947 127516947 + Splice_Site SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127516947 127516947 C G SNP DHX32 NM_018180 human genbank 54_36p -1 reviewed splice_site c.1882-1 e10-1 1 - - - no_errors ADAM12 8038 genome.wustl.edu 36 10 127833840 127833840 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127833840 127833840 C T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed silent c.285 p.T95 0.92 HMMPfam_Pep_M12B_propep ############################################################################################################################################################################################################################################################### - no_errors ADAM12 8038 genome.wustl.edu 36 10 128009048 128009048 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 128009048 128009048 C T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed missense c.109 p.G37R 0 HMMPfam_Pep_M12B_propep ############################################################################################################################################################################################################################################################### - no_errors C10orf90 118611 genome.wustl.edu 36 10 128104618 128104619 + Nonsense_Mutation DNP TC TC AA novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 TC TC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 128104618 128104619 TC AA DNP C10orf90 NM_001004298 human genbank 54_36p -1 validated nonsense c.1993_1992 p.KKK664N* 1.000:1.000 NULL NULL - no_errors CAMK1D 57118 genome.wustl.edu 36 10 12898306 12898306 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 12898306 12898306 C T SNP CAMK1D NM_153498 human genbank 54_36p 1 reviewed missense c.806 p.T269M 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DOCK1 1793 genome.wustl.edu 36 10 129062457 129062457 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 129062457 129062457 G A SNP DOCK1 ENST00000398025 human ensembl 54_36p 1 known missense c.3799 p.V1267I 1 NULL "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Cytochrome_c" - no_errors MKI67 4288 genome.wustl.edu 36 10 129791228 129791228 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 129791228 129791228 G C SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed missense c.8866 p.L2956V 0.05 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_K167R" - no_errors MKI67 4288 genome.wustl.edu 36 10 129795130 129795130 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 129795130 129795130 G A SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed missense c.4964 p.T1655I 0 HMMPfam_K167R "HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain,HMMPfam_K167R" - no_errors CCDC3 83643 genome.wustl.edu 36 10 12980651 12980651 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 12980651 12980651 T A SNP CCDC3 NM_031455 human genbank 54_36p -1 validated missense c.584 p.E195V 1 NULL NULL - no_errors TCERG1L 256536 genome.wustl.edu 36 10 132822665 132822665 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 132822665 132822665 C G SNP TCERG1L NM_174937 human genbank 54_36p -1 validated missense c.1226 p.R409T 0 NULL "PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,superfamily_FF,HMMSmart_FF,HMMPfam_FF" - no_errors SYCE1 93426 genome.wustl.edu 36 10 135219322 135219322 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 135219322 135219322 G T SNP SYCE1 NM_130784 human genbank 54_36p -1 validated missense c.563 p.T188N 0 NULL NULL - no_errors DCLRE1C 64421 genome.wustl.edu 36 10 15016413 15016413 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15016413 15016413 G T SNP DCLRE1C NM_001033855 human genbank 54_36p -1 reviewed missense c.650 p.T217N 1 NULL "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_DRMBL" - no_errors MEIG1 644890 genome.wustl.edu 36 10 15048569 15048569 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 15048569 15048569 T A SNP MEIG1 NM_001080836 human genbank 54_36p 1 validated nonsense c.96 p.Y32* 1 NULL NULL - no_errors NMT2 9397 genome.wustl.edu 36 10 15201474 15201474 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15201474 15201474 G C SNP NMT2 NM_004808 human genbank 54_36p -1 reviewed missense c.1044 p.I348M 1 "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_NMT_C" "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_NMT,PatternScan_NMT_1,HMMPfam_NMT_C,PatternScan_NMT_2" - no_errors FAM171A1 221061 genome.wustl.edu 36 10 15296371 15296371 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15296371 15296371 C A SNP FAM171A1 NM_001010924 human genbank 54_36p -1 validated missense c.1222 p.G408W 0.71 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors ITGA8 8516 genome.wustl.edu 36 10 15640161 15640161 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15640161 15640161 C T SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.2684 p.R895Q 0.64 "HMMPfam_Integrin_alpha2,superfamily_SSF69179" "superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ITGA8 8516 genome.wustl.edu 36 10 15766093 15766093 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15766093 15766093 T C SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.484 p.T162A 0 superfamily_SSF69318 "HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF69179,superfamily_SSF69318" - no_errors PTER 9317 genome.wustl.edu 36 10 16566430 16566430 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 16566430 16566430 T C SNP PTER NM_001001484 human genbank 54_36p 1 validated missense c.41 p.L14P 0.01 superfamily_Metallo-dependent hydrolases "superfamily_Metallo-dependent hydrolases,HMMPfam_PTE,PatternScan_PHOSPHOTRIESTERASE_1" - no_errors PTER 9317 genome.wustl.edu 36 10 16568623 16568623 + Splice_Site SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 16568623 16568623 G C SNP PTER NM_001001484 human genbank 54_36p 1 validated splice_site c.698+1 e2+1 1 - - - no_errors CUBN 8029 genome.wustl.edu 36 10 17020969 17020969 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17020969 17020969 C G SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.5732 p.R1911T 1 "HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_CUB" "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors CUBN 8029 genome.wustl.edu 36 10 17022062 17022062 + Silent SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17022062 17022062 C A SNP CUBN NM_001081 human genbank 54_36p -1 reviewed silent c.5523 p.T1841 0 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors CUBN 8029 genome.wustl.edu 36 10 17125901 17125901 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17125901 17125901 T A SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.3760 p.S1254C 0.94 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors ST8SIA6 338596 genome.wustl.edu 36 10 17403280 17403280 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17403280 17403280 A C SNP ST8SIA6 NM_001004470 human genbank 54_36p -1 validated missense c.800 p.L267R 0.14 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors STAM 8027 genome.wustl.edu 36 10 17770087 17770087 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17770087 17770087 A G SNP STAM NM_003473 human genbank 54_36p 1 reviewed missense c.353 p.E118G 1 "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288" "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,HMMPfam_UIM,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors CACNB2 783 genome.wustl.edu 36 10 18827469 18827469 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 18827469 18827469 T A SNP CACNB2 ENST00000402317 human ensembl 54_36p 1 known missense c.351 p.F117L 0 NULL superfamily_SH3-domain - no_errors NSUN6 221078 genome.wustl.edu 36 10 18980066 18980066 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 18980066 18980066 C A SNP NSUN6 NM_182543 human genbank 54_36p -1 validated nonsense c.73 p.E25* 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_PUA domain-like,HMMPfam_PUA,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN" - no_errors C10orf113 387638 genome.wustl.edu 36 10 21454980 21454980 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 21454980 21454980 T A SNP C10orf113 NM_001010896 human genbank 54_36p -1 predicted missense c.216 p.Q72H 0.78 NULL NULL - no_errors C10orf140 387640 genome.wustl.edu 36 10 21844172 21844172 + Silent SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 21844172 21844172 C A SNP C10orf140 NM_207371 human genbank 54_36p -1 validated silent c.2586 p.G862 1 NULL "superfamily_Putative DNA-binding domain,HMMPfam_Ski_Sno,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PIP4K2A 5305 genome.wustl.edu 36 10 22866155 22866155 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 10 22866155 22866155 A T SNP PIP4K2A NM_005028 human genbank 54_36p -1 reviewed missense c.1202 p.I401N 1 "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors KIAA1217 56243 genome.wustl.edu 36 10 24802216 24802216 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24802216 24802216 C T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated silent c.900 p.P300 0.23 NULL NULL - no_errors KIAA1217 56243 genome.wustl.edu 36 10 24802221 24802221 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24802221 24802221 C T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated missense c.905 p.S302F 0.89 NULL NULL - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24914568 24914568 + Silent SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24914568 24914568 C T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated silent c.4653 p.T1551 0.55 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24926891 24926891 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24926891 24926891 G C SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.3183 p.N1061K 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24948443 24948443 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24948443 24948443 G T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.2384 p.P795Q 0.89 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors GPR158 57512 genome.wustl.edu 36 10 25926869 25926869 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 25926869 25926869 T C SNP GPR158 NM_020752 human genbank 54_36p 1 validated missense c.2308 p.S770P 1 NULL "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_7tm_3" - no_errors GPR158 57512 genome.wustl.edu 36 10 25927612 25927612 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 25927612 25927612 T C SNP GPR158 NM_020752 human genbank 54_36p 1 validated silent c.3051 p.G1017 0.9 NULL "HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GPR158 57512 genome.wustl.edu 36 10 25927883 25927883 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 25927883 25927883 C T SNP GPR158 NM_020752 human genbank 54_36p 1 validated missense c.3322 p.R1108C 0 NULL "HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors MYO3A 53904 genome.wustl.edu 36 10 26503059 26503059 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 26503059 26503059 C A SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.3860 p.P1287H 0.13 superfamily_SSF52540 "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ" - no_errors MYO3A 53904 genome.wustl.edu 36 10 26503397 26503397 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 26503397 26503397 C T SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.4198 p.H1400Y 0 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors LOC387646 387646 genome.wustl.edu 36 10 27579509 27579509 + RNA SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 27579509 27579509 G A SNP LOC387646 NR_003525 human genbank 54_36p -1 provisional rna NULL NULL 0 - - - pseudogene PTCHD3 374308 genome.wustl.edu 36 10 27727657 27727657 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 27727657 27727657 C G SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated missense c.1876 p.G626R 0.99 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors ARMC4 55130 genome.wustl.edu 36 10 28268882 28268882 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 28268882 28268882 T A SNP ARMC4 NM_018076 human genbank 54_36p -1 validated missense c.2047 p.N683Y 0.77 "superfamily_ARM repeat,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors MPP7 143098 genome.wustl.edu 36 10 28448650 28448650 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 28448650 28448650 C G SNP MPP7 NM_173496 human genbank 54_36p -1 validated missense c.888 p.R296S 1 "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" "HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin" - no_errors WAC 51322 genome.wustl.edu 36 10 28940858 28940858 + Splice_Site SNP G G T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 28940858 28940858 G T SNP WAC NM_016628 human genbank 54_36p 1 reviewed splice_site c.1437+1 e10+1 1 - - - no_errors LOC653665 653665 genome.wustl.edu 36 10 29228313 29228313 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29228313 29228313 T C SNP LOC653665 XM_001723025 human genbank 54_36p -1 model missense c.68 p.K23R 1 "HMMPfam_Ribosomal_L21e,superfamily_Translation proteins SH3-like domain" "HMMPfam_Ribosomal_L21e,superfamily_Translation proteins SH3-like domain,PatternScan_RIBOSOMAL_L21E" - pseudogene SVIL 6840 genome.wustl.edu 36 10 29799398 29799398 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29799398 29799398 C T SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.5656 p.V1886M 1 "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262" "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors SVIL 6840 genome.wustl.edu 36 10 29813712 29813712 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29813712 29813712 T A SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.4834 p.T1612S 1 "HMMSmart_SM00262,superfamily_Actin depolymerizing proteins" "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors SVIL 6840 genome.wustl.edu 36 10 29817606 29817606 + Silent SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29817606 29817606 G C SNP SVIL NM_021738 human genbank 54_36p -1 reviewed silent c.4278 p.V1426 1 NULL "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors KIAA1462 57608 genome.wustl.edu 36 10 30355780 30355780 + Silent SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30355780 30355780 C T SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated silent c.3303 p.P1101 0 NULL NULL - no_errors KIAA1462 57608 genome.wustl.edu 36 10 30357215 30357216 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 CT CT CT - CT CT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30357215 30357216 CT - DEL KIAA1462 NM_020848 human genbank 54_36p -1 validated frame_shift_del c.1868_1867 p.L624fs 1.000:1.000 NULL NULL "(deletion:cds_exon[30355038,30358801])" no_errors KIAA1462 57608 genome.wustl.edu 36 10 30357354 30357354 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30357354 30357354 C A SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated nonsense c.1729 p.E577* 1 NULL NULL - no_errors MTPAP 55149 genome.wustl.edu 36 10 30669248 30669248 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30669248 30669248 C T SNP MTPAP NM_018109 human genbank 54_36p -1 validated silent c.468 p.Q156 0 NULL "superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc" - no_errors LOC645954 645954 genome.wustl.edu 36 10 31014301 31014301 + RNA SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 31014301 31014301 C T SNP LOC645954 XR_017086 human genbank 54_36p 1 model rna NULL NULL 1 - - - no_errors PITRM1 10531 genome.wustl.edu 36 10 3198518 3198518 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 3198518 3198518 C T SNP PITRM1 NM_014889 human genbank 54_36p -1 validated silent c.321 p.E107 1 superfamily_LuxS/MPP-like metallohydrolase "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16_C,HMMPfam_M16C_assoc" - no_errors KIF5B 3799 genome.wustl.edu 36 10 32369383 32369383 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 32369383 32369383 C T SNP KIF5B NM_004521 human genbank 54_36p -1 validated missense c.223 p.E75K 1 "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin" "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors EPC1 80314 genome.wustl.edu 36 10 32621530 32621530 + Silent SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 32621530 32621530 G T SNP EPC1 NM_025209 human genbank 54_36p -1 provisional silent c.715 p.R239 1 NULL "HMMPfam_EPL1,HMMPfam_E_Pc_C" - no_errors C10orf68 79741 genome.wustl.edu 36 10 33040622 33040622 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 33040622 33040622 C T SNP C10orf68 NM_024688 human genbank 54_36p 1 validated nonsense c.448 p.Q150* 0.01 NULL NULL - no_errors NRP1 8829 genome.wustl.edu 36 10 33550667 33550667 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 33550667 33550667 C G SNP NRP1 NM_003873 human genbank 54_36p -1 validated missense c.1268 p.G423A 1 "superfamily_Galactose-binding domain-like,HMMSmart_SM00231,PatternScan_FA58C_2" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1" - no_errors PARD3 56288 genome.wustl.edu 36 10 34660243 34660254 + In_Frame_Del DEL GACCCAGGGAAG GACCCAGGGAAG - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 GACCCAGGGAAG GACCCAGGGAAG GACCCAGGGAAG - GACCCAGGGAAG GACCCAGGGAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 34660243 34660254 GACCCAGGGAAG - DEL PARD3 NM_019619 human genbank 54_36p -1 provisional in_frame_del c.2650_2639 p.PSLG880in_frame_del 0.997:0.994:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.885:1.000 NULL "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" "(deletion:cds_exon[34660051,34660278])" no_errors CUL2 8453 genome.wustl.edu 36 10 35368017 35368017 + Splice_Site SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 35368017 35368017 C T SNP CUL2 NM_003591 human genbank 54_36p -1 provisional splice_site c.715-1 e8-1 1 - - - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37470809 37470809 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 37470809 37470809 T G SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.810 p.D270E 0.03 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE" - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37526222 37526222 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 37526222 37526222 C T SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated silent c.2454 p.P818 0.02 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37546763 37546763 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 37546763 37546763 T G SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.3050 p.L1017R 0.02 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ZNF248 57209 genome.wustl.edu 36 10 38166609 38166609 + Silent SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 38166609 38166609 G A SNP ZNF248 NM_021045 human genbank 54_36p -1 provisional silent c.180 p.I60 0.86 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CCNYL2 414194 genome.wustl.edu 36 10 42285601 42285601 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 42285601 42285601 A G SNP CCNYL2 XM_374787 human genbank 54_36p -1 model missense c.350 p.V117A 0.83 NULL "HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Cyclin_N" - no_errors BMS1 9790 genome.wustl.edu 36 10 42609420 42609420 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 42609420 42609420 G T SNP BMS1 NM_014753 human genbank 54_36p 1 reviewed missense c.1204 p.G402W 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AARP2CN,HMMSmart_SM00785,HMMPfam_DUF663" - no_errors BMS1 9790 genome.wustl.edu 36 10 42645856 42645856 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 42645856 42645856 C G SNP BMS1 NM_014753 human genbank 54_36p 1 reviewed missense c.3598 p.R1200G 0.95 NULL "HMMPfam_DUF663,HMMPfam_AARP2CN,HMMSmart_SM00785,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LOC399748 399748 genome.wustl.edu 36 10 43421077 43421077 + RNA SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 43421077 43421077 C A SNP LOC399748 XR_016318 human genbank 54_36p -1 model rna NULL NULL 0.93 - - - pseudogene ZNF32 7580 genome.wustl.edu 36 10 43460106 43460106 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 43460106 43460106 G T SNP ZNF32 NM_001005368 human genbank 54_36p -1 validated missense c.220 p.Q74K 1 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RASSF4 83937 genome.wustl.edu 36 10 44787207 44787207 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 44787207 44787207 G A SNP RASSF4 ENST00000374411 human ensembl 54_36p 1 known missense c.316 p.V106M 0.03 NULL "HMMSmart_SM00314,HMMPfam_RA" - no_start_codon AGAP4 119016 genome.wustl.edu 36 10 45641482 45641482 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 45641482 45641482 C T SNP AGAP4 NM_133446 human genbank 54_36p -1 provisional missense c.1879 p.V627I 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors DIP2C 22982 genome.wustl.edu 36 10 458810 458810 + Silent SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 458810 458810 G A SNP DIP2C NM_014974 human genbank 54_36p -1 reviewed silent c.558 p.S186 1 NULL "PatternScan_AMP_BINDING,HMMPfam_DMAP_binding,superfamily_SSF56801,HMMPfam_AMP-binding" - no_errors FAM21B 55747 genome.wustl.edu 36 10 47431114 47431114 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 47431114 47431114 G C SNP FAM21B NM_018232 human genbank 54_36p 1 validated missense c.976 p.G326R 0.98 NULL NULL - no_errors ZNF488 118738 genome.wustl.edu 36 10 47991112 47991112 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 47991112 47991112 C A SNP ZNF488 NM_153034 human genbank 54_36p 1 provisional missense c.574 p.L192M 0.92 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors GDF2 2658 genome.wustl.edu 36 10 48033912 48033912 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 48033912 48033912 G C SNP GDF2 NM_016204 human genbank 54_36p -1 reviewed missense c.962 p.A321G 0.04 superfamily_Cystine-knot cytokines "HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1" - no_errors GDF2 2658 genome.wustl.edu 36 10 48036475 48036475 + Silent SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 48036475 48036475 G C SNP GDF2 NM_016204 human genbank 54_36p -1 reviewed silent c.225 p.V75 0.97 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines" - no_errors AKR1C1 1645 genome.wustl.edu 36 10 5004864 5004864 + Silent SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 5004864 5004864 C T SNP AKR1C1 NM_001353 human genbank 54_36p 1 reviewed silent c.769 p.L257 1 "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors ERCC6 2074 genome.wustl.edu 36 10 50378606 50378606 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50378606 50378606 G C SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed missense c.1669 p.R557G 1 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors ERCC6 2074 genome.wustl.edu 36 10 50378705 50378705 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50378705 50378705 G A SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed nonsense c.1570 p.Q524* 1 "HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540" "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_DEXDc,superfamily_SSF52540" - no_errors PARG 8505 genome.wustl.edu 36 10 50739698 50739698 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50739698 50739698 G A SNP PARG ENST00000402038 human ensembl 54_36p -1 known missense c.2147 p.T716I 0.75 HMMPfam_PARG_cat HMMPfam_PARG_cat - no_errors PARG 8505 genome.wustl.edu 36 10 50757751 50757751 + Silent SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50757751 50757751 A G SNP PARG ENST00000402038 human ensembl 54_36p -1 known silent c.1962 p.S654 1 HMMPfam_PARG_cat HMMPfam_PARG_cat - no_errors AGAP7 653268 genome.wustl.edu 36 10 51134838 51134838 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 51134838 51134838 G A SNP AGAP7 NM_001077685 human genbank 54_36p -1 provisional missense c.1624 p.R542W 1 "superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors MSMB 4477 genome.wustl.edu 36 10 51232387 51232387 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 51232387 51232387 T A SNP MSMB NM_002443 human genbank 54_36p 1 reviewed missense c.326 p.V109D 0 HMMPfam_PSP94 HMMPfam_PSP94 - no_errors MSMB 4477 genome.wustl.edu 36 10 51232394 51232394 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 51232394 51232394 A G SNP MSMB NM_138634 human genbank 54_36p 1 reviewed missense c.227 p.N76S 0 NULL HMMPfam_PSP94 - no_errors LOC729023 729023 genome.wustl.edu 36 10 52114870 52114870 + RNA SNP A A T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 52114870 52114870 A T SNP LOC729023 XR_038278 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene MBL2 4153 genome.wustl.edu 36 10 54201258 54201258 + Silent SNP G G T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 54201258 54201258 G T SNP MBL2 NM_000242 human genbank 54_36p -1 reviewed silent c.144 p.G48 1 NULL "HMMPfam_Collagen,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors PCDH15 65217 genome.wustl.edu 36 10 55238564 55238564 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 55238564 55238564 G A SNP PCDH15 ENST00000395445 human ensembl 54_36p -1 known missense c.5252 p.S1751F 0 NULL "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin" - no_errors PCDH15 65217 genome.wustl.edu 36 10 55286974 55286974 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 55286974 55286974 G T SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed missense c.3773 p.T1258N 0.98 NULL "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin" - no_errors PCDH15 65217 genome.wustl.edu 36 10 55625469 55625469 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 55625469 55625469 G A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed silent c.1285 p.L429 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors IPMK 253430 genome.wustl.edu 36 10 59656818 59656818 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 59656818 59656818 G A SNP IPMK NM_152230 human genbank 54_36p -1 provisional missense c.365 p.A122V 1 "superfamily_SSF56104,HMMPfam_IPK" "superfamily_SSF56104,HMMPfam_IPK" - no_errors FBXO18 84893 genome.wustl.edu 36 10 5998369 5998369 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 5998369 5998369 A T SNP FBXO18 NM_032807 human genbank 54_36p 1 reviewed missense c.1885 p.I629F 0.99 superfamily_SSF52540 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52540" - no_errors BICC1 80114 genome.wustl.edu 36 10 60219104 60219104 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 60219104 60219104 C A SNP BICC1 NM_001080512 human genbank 54_36p 1 provisional missense c.677 p.P226H 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain" - no_errors BICC1 80114 genome.wustl.edu 36 10 60230718 60230719 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 60230718 60230719 GG TT DNP BICC1 NM_001080512 human genbank 54_36p 1 provisional missense c.1921_1922 p.G641F 0.997:0.984 NULL "HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00322,superfamily_SAM/Pointed domain,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors SLC16A9 220963 genome.wustl.edu 36 10 61083893 61083893 + Silent SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 61083893 61083893 A G SNP SLC16A9 NM_194298 human genbank 54_36p -1 validated silent c.897 p.A299 0.25 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors ANK3 288 genome.wustl.edu 36 10 61501621 61501621 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 61501621 61501621 G C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.9024 p.H3008Q 0.14 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors ANK3 288 genome.wustl.edu 36 10 61637909 61637909 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 61637909 61637909 T C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.1085 p.D362G 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMSmart_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like" - no_errors PFKFB3 5209 genome.wustl.edu 36 10 6301630 6301630 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 6301630 6301630 C G SNP PFKFB3 NM_004566 human genbank 54_36p 1 validated missense c.591 p.S197R 1 "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like,PatternScan_PG_MUTASE" - no_errors ARID5B 84159 genome.wustl.edu 36 10 63486945 63486945 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 63486945 63486945 T G SNP ARID5B NM_032199 human genbank 54_36p 1 validated missense c.910 p.S304A 0.98 superfamily_ARID-like "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors LRRTM3 347731 genome.wustl.edu 36 10 68527509 68527509 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 68527509 68527509 C A SNP LRRTM3 NM_178011 human genbank 54_36p 1 validated missense c.1695 p.S565R 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors CTNNA3 29119 genome.wustl.edu 36 10 68610279 68610279 + Silent SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 68610279 68610279 T C SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated silent c.849 p.L283 1 HMMPfam_Vinculin "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" - no_errors DNA2 1763 genome.wustl.edu 36 10 69852350 69852350 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 69852350 69852350 T A SNP DNA2 NM_001080449 human genbank 54_36p -1 provisional missense c.2678 p.E893V 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TET1 80312 genome.wustl.edu 36 10 70076113 70076113 + Silent SNP T T G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70076113 70076113 T G SNP TET1 NM_030625 human genbank 54_36p 1 validated silent c.3621 p.P1207 0 NULL HMMPfam_zf-CXXC - no_errors TET1 80312 genome.wustl.edu 36 10 70076261 70076261 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70076261 70076261 G T SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.3769 p.V1257F 0.88 NULL HMMPfam_zf-CXXC - no_errors TET1 80312 genome.wustl.edu 36 10 70116184 70116184 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70116184 70116184 T A SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.5118 p.H1706Q 0.99 NULL HMMPfam_zf-CXXC - no_errors CCAR1 55749 genome.wustl.edu 36 10 70166669 70166669 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70166669 70166669 T C SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.104 p.L35P 1 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand" - no_errors CCAR1 55749 genome.wustl.edu 36 10 70177005 70177005 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70177005 70177005 G C SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.600 p.W200C 1 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand,superfamily_SAP domain" - no_errors DDX50 79009 genome.wustl.edu 36 10 70365827 70365827 + Silent SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 70365827 70365827 C T SNP DDX50 NM_024045 human genbank 54_36p 1 reviewed silent c.1581 p.S527 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_GUCT" - no_errors DDX21 9188 genome.wustl.edu 36 10 70391886 70391886 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70391886 70391886 C A SNP DDX21 NM_004728 human genbank 54_36p 1 reviewed missense c.574 p.P192T 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_GUCT" - no_errors KIAA1279 26128 genome.wustl.edu 36 10 70446172 70446172 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70446172 70446172 G A SNP KIAA1279 NM_015634 human genbank 54_36p 1 validated silent c.1860 p.L620 0.97 NULL superfamily_SSF48452 - no_errors HKDC1 80201 genome.wustl.edu 36 10 70680337 70680337 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70680337 70680337 T G SNP HKDC1 NM_025130 human genbank 54_36p 1 validated missense c.1759 p.Y587D 1 "superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_1" "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" - no_errors C10orf35 219738 genome.wustl.edu 36 10 71062718 71062718 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71062718 71062718 C A SNP C10orf35 NM_145306 human genbank 54_36p 1 validated missense c.263 p.P88Q 1 NULL NULL - no_errors COL13A1 1305 genome.wustl.edu 36 10 71348079 71348079 + Silent SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71348079 71348079 G A SNP COL13A1 NM_005203 human genbank 54_36p 1 reviewed silent c.1029 p.K343 1 HMMPfam_Collagen HMMPfam_Collagen - no_errors KIAA1274 27143 genome.wustl.edu 36 10 71961158 71961158 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71961158 71961158 T A SNP KIAA1274 NM_014431 human genbank 54_36p 1 validated missense c.575 p.L192H 1 NULL superfamily_SSF52799 - no_errors KIAA1274 27143 genome.wustl.edu 36 10 71968077 71968077 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71968077 71968077 G T SNP KIAA1274 NM_014431 human genbank 54_36p 1 validated missense c.1359 p.W453C 1 NULL superfamily_SSF52799 - no_errors ADAMTS14 140766 genome.wustl.edu 36 10 72162034 72162034 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 72162034 72162034 G A SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.1130 p.G377D 1 "superfamily_SSF55486,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS14 140766 genome.wustl.edu 36 10 72173420 72173420 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 72173420 72173420 G A SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.2044 p.V682I 0.97 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_SSF55486" - no_errors LOC338611 338611 genome.wustl.edu 36 10 72224212 72224212 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 72224212 72224212 C T SNP LOC338611 XM_001130386 human genbank 54_36p -1 model missense c.74 p.C25Y 1 HMMPfam_Ribosomal_S26e "HMMPfam_Ribosomal_S26e,PatternScan_RIBOSOMAL_S26E" - pseudogene SFMBT2 57713 genome.wustl.edu 36 10 7245767 7245767 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 7245767 7245767 C A SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional missense c.2656 p.V886L 1 "HMMSmart_SM00454,HMMPfam_SAM_2" "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors SFMBT2 57713 genome.wustl.edu 36 10 7279543 7279543 + Silent SNP C C G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 7279543 7279543 C G SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional silent c.1671 p.P557 0.82 NULL "HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,superfamily_Tudor/PWWP/MBT" - no_errors C10orf54 64115 genome.wustl.edu 36 10 73190679 73190679 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 73190679 73190679 C G SNP C10orf54 NM_022153 human genbank 54_36p -1 validated missense c.520 p.A174P 0.01 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" - no_errors PSAP 5660 genome.wustl.edu 36 10 73251668 73251668 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 73251668 73251668 G A SNP PSAP NM_001042465 human genbank 54_36p -1 reviewed missense c.889 p.P297S 1 NULL "HMMPfam_SapA,HMMSmart_SAPA,superfamily_Saposin_like,HMMPfam_SapB_1,HMMSmart_SapB,HMMPfam_SapB_2" - no_errors ANAPC16 119504 genome.wustl.edu 36 10 73653810 73653810 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 73653810 73653810 G C SNP C10orf104 NM_173473 human genbank 54_36p 1 validated missense c.132 p.E44D 1 NULL NULL - no_errors OIT3 170392 genome.wustl.edu 36 10 74362137 74362137 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74362137 74362137 G T SNP OIT3 NM_152635 human genbank 54_36p 1 provisional missense c.1487 p.R496L 0.99 "HMMPfam_Zona_pellucida,HMMSmart_SM00241" "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241" - no_errors P4HA1 5033 genome.wustl.edu 36 10 74480988 74480988 + Silent SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74480988 74480988 A T SNP P4HA1 NM_000917 human genbank 54_36p -1 reviewed silent c.729 p.G243 1 superfamily_TPR-like "HMMPfam_P4Ha_N,superfamily_TPR-like,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy" - no_errors TTC18 118491 genome.wustl.edu 36 10 74783467 74783467 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74783467 74783467 C A SNP TTC18 NM_145170 human genbank 54_36p -1 provisional missense c.103 p.A35S 1 NULL "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors ZMYND17 118490 genome.wustl.edu 36 10 74855969 74855969 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74855969 74855969 C T SNP ZMYND17 NM_001024593 human genbank 54_36p -1 validated silent c.675 p.P225 0.01 NULL "HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" - no_errors USP54 159195 genome.wustl.edu 36 10 74972831 74972831 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74972831 74972831 G A SNP USP54 NM_152586 human genbank 54_36p -1 provisional missense c.440 p.A147V 1 superfamily_Cysteine proteinases "superfamily_Cysteine proteinases,HMMPfam_UCH" - no_errors KIAA0913 23053 genome.wustl.edu 36 10 75227656 75227656 + Silent SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 75227656 75227656 G T SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated silent c.3774 p.G1258 1 NULL HMMPfam_SWIM - no_errors MYST4 23522 genome.wustl.edu 36 10 76458706 76458706 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 76458706 76458706 A G SNP MYST4 NM_012330 human genbank 54_36p 1 validated missense c.4118 p.E1373G 1 NULL "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors MYST4 23522 genome.wustl.edu 36 10 76459441 76459441 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 76459441 76459441 G T SNP MYST4 NM_012330 human genbank 54_36p 1 validated missense c.4853 p.S1618I 0.94 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors DUPD1 338599 genome.wustl.edu 36 10 76488091 76488091 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 76488091 76488091 T C SNP DUPD1 NM_001003892 human genbank 54_36p -1 provisional missense c.188 p.Y63C 1 "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors KCNMA1 3778 genome.wustl.edu 36 10 78614645 78614645 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 78614645 78614645 A C SNP KCNMA1 NM_001014797 human genbank 54_36p -1 reviewed missense c.638 p.F213C 1 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a,PatternScan_N6_MTASE" - no_errors KIN 22944 genome.wustl.edu 36 10 7862042 7862042 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 7862042 7862042 T C SNP KIN NM_012311 human genbank 54_36p -1 reviewed missense c.359 p.K120R 1 HMMPfam_Kin17_mid "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_Kin17_mid" - no_errors DLG5 9231 genome.wustl.edu 36 10 79246325 79246325 + Silent SNP T T G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 79246325 79246325 T G SNP DLG5 NM_004747 human genbank 54_36p -1 reviewed silent c.4015 p.R1339 0.96 superfamily_PDZ domain-like ############################################################################################################################################################################################################################################################### - no_errors DLG5 9231 genome.wustl.edu 36 10 79271717 79271731 + In_Frame_Del DEL CAGCTCCACTTCGGT CAGCTCCACTTCGGT - novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 CAGCTCCACTTCGGT CAGCTCCACTTCGGT CAGCTCCACTTCGGT - CAGCTCCACTTCGGT CAGCTCCACTTCGGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 79271717 79271731 CAGCTCCACTTCGGT - DEL DLG5 NM_004747 human genbank 54_36p -1 reviewed in_frame_del c.1365_1351 p.TEVEL451in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.936:1.000:1.000 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[79271645,79271957])" no_errors ZMIZ1 57178 genome.wustl.edu 36 10 80734929 80734929 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 80734929 80734929 C A SNP ZMIZ1 NM_020338 human genbank 54_36p 1 validated nonsense c.2289 p.C763* 1 "superfamily_RING/U-box,HMMPfam_zf-MIZ" "superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors GATA3 2625 genome.wustl.edu 36 10 8140557 8140557 + Silent SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 8140557 8140557 G A SNP GATA3 NM_001002295 human genbank 54_36p 1 validated silent c.525 p.S175 0.88 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA" - no_errors TUBB8 347688 genome.wustl.edu 36 10 83295 83295 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 83295 83295 G C SNP TUBB8 NM_177987 human genbank 54_36p -1 provisional missense c.1037 p.P346R 1 "superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" - no_errors LARP4B 23185 genome.wustl.edu 36 10 865530 865530 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 865530 865530 C T SNP LARP5 NM_015155 human genbank 54_36p -1 provisional missense c.920 p.R307Q 1 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" - no_errors GRID1 2894 genome.wustl.edu 36 10 87477688 87477688 + Silent SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 87477688 87477688 G A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed silent c.1437 p.G479 1 "HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors GRID1 2894 genome.wustl.edu 36 10 87479305 87479305 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 87479305 87479305 T A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed missense c.1280 p.E427V 1 superfamily_Periplasmic binding protein-like I "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors GRID1 2894 genome.wustl.edu 36 10 87956304 87956304 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 87956304 87956304 G A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed missense c.317 p.T106M 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors LDB3 11155 genome.wustl.edu 36 10 88441666 88441666 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 88441666 88441666 C T SNP LDB3 NM_007078 human genbank 54_36p 1 reviewed silent c.723 p.S241 1 NULL "HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1" - no_errors FAM35A 54537 genome.wustl.edu 36 10 88920679 88920679 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 88920679 88920679 C G SNP FAM35A NM_019054 human genbank 54_36p 1 validated missense c.1931 p.A644G 1 NULL NULL - no_errors PTEN 5728 genome.wustl.edu 36 10 89701885 89701885 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 89701885 89701885 G T SNP PTEN NM_000314 human genbank 54_36p 1 reviewed missense c.523 p.V175L 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors RNLS 55328 genome.wustl.edu 36 10 90112411 90112411 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 90112411 90112411 C G SNP C10orf59 NM_001031709 human genbank 54_36p -1 provisional missense c.578 p.R193P 1 superfamily_FAD/NAD(P)-binding domain "HMMPfam_FAD_binding_3,superfamily_FAD/NAD(P)-binding domain" - no_errors LIPJ 142910 genome.wustl.edu 36 10 90356418 90356418 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 90356418 90356418 C A SNP LIPJ NM_001010939 human genbank 54_36p 1 provisional missense c.875 p.S292Y 0.33 "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" "HMMPfam_Abhydro_lipase,superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors LOC119358 119358 genome.wustl.edu 36 10 91728509 91728509 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 91728509 91728509 G A SNP LOC119358 XM_061427 human genbank 54_36p 1 model missense c.56 p.R19Q 1 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors SRP9L1 653226 genome.wustl.edu 36 10 93556982 93556982 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 93556982 93556982 G T SNP LOC653226 XM_927451 human genbank 54_36p -1 model missense c.195 p.F65L 1 "HMMPfam_SRP9,superfamily_Signal recognition particle alu RNA binding heterodimer SRP9/14" "HMMPfam_SRP9,superfamily_Signal recognition particle alu RNA binding heterodimer SRP9/14" - no_errors TNKS2 80351 genome.wustl.edu 36 10 93592071 93592071 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 93592071 93592071 G C SNP TNKS2 NM_025235 human genbank 54_36p 1 validated missense c.2002 p.D668H 1 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2,superfamily_SSF56399,HMMPfam_PARP" - no_errors HHEX 3087 genome.wustl.edu 36 10 94444440 94444440 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 94444440 94444440 A G SNP HHEX NM_002729 human genbank 54_36p 1 reviewed missense c.748 p.I250V 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors LOC387703 387703 genome.wustl.edu 36 10 94958431 94958431 + RNA SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 94958431 94958431 G T SNP LOC387703 XR_016730 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PDE6C 5146 genome.wustl.edu 36 10 95375354 95375359 + In_Frame_Del DEL AGAAGT AGAAGT - novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 AGAAGT AGAAGT AGAAGT - AGAAGT AGAAGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 95375354 95375359 AGAAGT - DEL PDE6C NM_006204 human genbank 54_36p 1 validated in_frame_del c.897_902 p.VE301in_frame_del 1.000:1.000:1.000:1.000:0.936:0.921 "HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781" "superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" "(deletion:cds_exon[95375322,95375396])" no_errors LGI1 9211 genome.wustl.edu 36 10 95543049 95543049 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 95543049 95543049 G C SNP LGI1 NM_005097 human genbank 54_36p 1 reviewed missense c.790 p.E264Q 1 HMMPfam_EPTP "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_EPTP" - no_errors CYP2C18 1562 genome.wustl.edu 36 10 96437584 96437584 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96437584 96437584 G T SNP CYP2C18 NM_000772 human genbank 54_36p 1 reviewed missense c.236 p.G79V 0.87 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C19 1557 genome.wustl.edu 36 10 96525277 96525277 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96525277 96525277 A C SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.472 p.K158Q 0.15 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C19 1557 genome.wustl.edu 36 10 96602522 96602522 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96602522 96602522 T A SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.1334 p.L445Q 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C9 1559 genome.wustl.edu 36 10 96721970 96721970 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96721970 96721970 G A SNP CYP2C9 NM_000771 human genbank 54_36p 1 reviewed silent c.939 p.L313 0.99 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C9 1559 genome.wustl.edu 36 10 96738634 96738634 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96738634 96738634 G C SNP CYP2C9 NM_000771 human genbank 54_36p 1 reviewed missense c.1332 p.E444D 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors SORBS1 10580 genome.wustl.edu 36 10 97086482 97086482 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 97086482 97086482 C G SNP SORBS1 NM_001034954 human genbank 54_36p -1 validated missense c.3425 p.G1142A 0.86 NULL "HMMPfam_Sorb,HMMSmart_SM00459,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors ENTPD1 953 genome.wustl.edu 36 10 97589521 97589521 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 97589521 97589521 C T SNP ENTPD1 NM_001098175 human genbank 54_36p 1 validated silent c.249 p.G83 1 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors ENTPD1 953 genome.wustl.edu 36 10 97614610 97614610 + Splice_Site SNP T T C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 97614610 97614610 T C SNP ENTPD1 NM_001098175 human genbank 54_36p 1 validated splice_site c.1347+2 e9+2 1 - - - no_errors DNTT 1791 genome.wustl.edu 36 10 98072464 98072464 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 98072464 98072464 C A SNP DNTT NM_004088 human genbank 54_36p 1 reviewed missense c.739 p.Q247K 0.89 "HMMSmart_SM00483,superfamily_DNA polymerase beta-like second domain,HMMPfam_DNA_pol_lambd_f" ############################################################################################################################################################################################################################################################### - no_errors LCOR 84458 genome.wustl.edu 36 10 98705139 98705139 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98705139 98705139 G C SNP LCOR NM_032440 human genbank 54_36p 1 provisional missense c.772 p.V258L 1 NULL HMMPfam_HTH_psq - no_errors SLIT1 6585 genome.wustl.edu 36 10 98763798 98763798 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98763798 98763798 T A SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.3077 p.N1026I 1 "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00274,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL" ############################################################################################################################################################################################################################################################### - no_errors SLIT1 6585 genome.wustl.edu 36 10 98792711 98792711 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98792711 98792711 G C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.2101 p.P701A 1 "HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors SLIT1 6585 genome.wustl.edu 36 10 98814622 98814622 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98814622 98814622 G C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.487 p.Q163E 1 "HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors RRP12 23223 genome.wustl.edu 36 10 99131475 99131475 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99131475 99131475 G A SNP RRP12 NM_015179 human genbank 54_36p -1 validated missense c.1307 p.T436M 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_NUC173" - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99633985 99633985 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99633985 99633985 C T SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1600 p.E534K 0.89 NULL "superfamily_Integrin alpha N-terminal domain,HMMPfam_FG-GAP,HMMPfam_UnbV_ASPIC,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179" - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99634050 99634050 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99634050 99634050 A C SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1535 p.M512R 0.28 HMMPfam_UnbV_ASPIC "HMMSmart_SM00179,HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain" - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99645642 99645642 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99645642 99645642 C A SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1307 p.R436L 1 superfamily_Integrin alpha N-terminal domain "HMMSmart_SM00179,HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain" - no_errors SNORD113-5 767565 genome.wustl.edu 36 14 100474284 100474284 + RNA SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 100474284 100474284 A G SNP SNORD113-5 NR_003233 human genbank 54_36p 1 provisional rna NULL NULL 0 - - - no_errors SNORD113-9 767569 genome.wustl.edu 36 14 100481803 100481803 + RNA SNP A A T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 100481803 100481803 A T SNP SNORD113-9 NR_003237 human genbank 54_36p 1 provisional rna NULL NULL 0.93 - - - no_errors SNORD114-11 767589 genome.wustl.edu 36 14 100504268 100504268 + RNA SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 100504268 100504268 A T SNP SNORD114-11 NR_003204 human genbank 54_36p 1 provisional rna NULL NULL 0.02 - - - no_errors RAB40AL 282808 genome.wustl.edu 36 X 102079111 102079111 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 102079111 102079111 C T SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional missense c.209 p.T70M 1 "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras,HMMSmart_SOCS,HMMPfam_SOCS_box" - no_errors RAB40AL 282808 genome.wustl.edu 36 X 102079112 102079112 + Silent SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 102079112 102079112 G T SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional silent c.210 p.T70 0.99 "HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540" "HMMPfam_SOCS_box,HMMSmart_SOCS,HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540" - no_errors IGHG2 3501 genome.wustl.edu 36 14 105180646 105180646 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105180646 105180646 A G SNP IGHG2 ENST00000390545 human ensembl 54_36p -1 known missense c.919 p.C307R 0 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHG2 3501 genome.wustl.edu 36 14 105181466 105181466 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105181466 105181466 C G SNP IGHG2 ENST00000390544 human ensembl 54_36p -1 known missense c.310 p.V104L 0.02 superfamily_Immunoglobulin "PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000211894 0 genome.wustl.edu 36 14 105206287 105206287 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105206287 105206287 G C SNP ENSG00000211894 ENST00000390546 human ensembl 54_36p -1 known missense c.433 p.R145G 0.04 "superfamily_SSF48726,HMMPfam_C1-set" "superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000214405 0 genome.wustl.edu 36 3 105264954 105264954 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 105264954 105264954 C G SNP ENSG00000214405 ENST00000341355 human ensembl 54_36p 1 known missense c.388 p.Q130E 1 "superfamily_SSF52540,HMMPfam_Ras" "superfamily_SSF52540,HMMPfam_Ras" - no_start_codon ENSG00000180574 0 genome.wustl.edu 36 12 10550232 10550232 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10550232 10550232 C G SNP ENSG00000180574 ENST00000322446 human ensembl 54_36p 1 known missense c.464 p.A155G 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,HMMPfam_eIF2_C" - no_errors ENSG00000211945 0 genome.wustl.edu 36 14 105712750 105712750 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105712750 105712750 A T SNP ENSG00000211945 ENST00000390605 human ensembl 54_36p -1 known missense c.209 p.I70N 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211964 0 genome.wustl.edu 36 14 106064967 106064967 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 106064967 106064967 G T SNP ENSG00000211964 ENST00000390624 human ensembl 54_36p -1 known missense c.243 p.D81E 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region PIRT 644139 genome.wustl.edu 36 17 10669679 10669679 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10669679 10669679 C T SNP PIRT NM_001101387 human genbank 54_36p -1 validated missense c.9 p.M3I 1 NULL NULL - no_errors CBLL1 100128737 genome.wustl.edu 36 7 107176637 107176637 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107176637 107176637 C T SNP LOC100128737 XM_001718329 human genbank 54_36p -1 model missense c.3 p.M1I 1 NULL NULL - no_errors LOC440063 440063 genome.wustl.edu 36 11 100042557 100042557 + RNA SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 100042557 100042557 C T SNP LOC440063 XR_016123 human genbank 54_36p 1 model rna NULL NULL 0.95 - - - pseudogene ANGPTL5 253935 genome.wustl.edu 36 11 101278578 101278578 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101278578 101278578 G A SNP ANGPTL5 NM_178127 human genbank 54_36p -1 validated missense c.524 p.S175F 0.83 "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C" "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors YAP1 10413 genome.wustl.edu 36 11 101605876 101605876 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101605876 101605876 T A SNP YAP1 NM_006106 human genbank 54_36p 1 reviewed missense c.1360 p.L454I 1 NULL "superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1" - no_errors BIRC3 330 genome.wustl.edu 36 11 101700819 101700819 + Silent SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101700819 101700819 A G SNP BIRC3 NM_001165 human genbank 54_36p 1 reviewed silent c.369 p.S123 0 NULL "PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors BIRC3 330 genome.wustl.edu 36 11 101701193 101701193 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101701193 101701193 C G SNP BIRC3 NM_001165 human genbank 54_36p 1 reviewed missense c.743 p.S248C 0.92 superfamily_SSF57924 "HMMPfam_CARD,HMMSmart_CARD,HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMSmart_RING,superfamily_DEATH_like,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57924" - no_errors MMP7 4316 genome.wustl.edu 36 11 101906626 101906626 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101906626 101906626 G T SNP MMP7 NM_002423 human genbank 54_36p -1 reviewed missense c.16 p.L6M 0 NULL "superfamily_PGBD_like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE" - no_errors MMP8 4317 genome.wustl.edu 36 11 102092270 102092270 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102092270 102092270 C A SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.875 p.R292L 0.98 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors MMP8 4317 genome.wustl.edu 36 11 102092273 102092273 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102092273 102092273 A G SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.872 p.L291P 0.96 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486" - no_errors MMP8 4317 genome.wustl.edu 36 11 102098605 102098605 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102098605 102098605 C T SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.112 p.E38K 0.34 "HMMPfam_PG_binding_1,superfamily_PGBD_like" "superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486" - no_errors MMP13 4322 genome.wustl.edu 36 11 102320237 102320237 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102320237 102320237 C T SNP MMP13 NM_002427 human genbank 54_36p -1 reviewed missense c.1384 p.V462I 0.92 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors DYNC2H1 79659 genome.wustl.edu 36 11 102580816 102580816 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102580816 102580816 C T SNP DYNC2H1 NM_001080463 human genbank 54_36p 1 provisional silent c.8367 p.F2789 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors CASP5 838 genome.wustl.edu 36 11 104378115 104378115 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 104378115 104378115 C G SNP CASP5 NM_004347 human genbank 54_36p -1 reviewed missense c.519 p.E173D 0 "superfamily_SSF52129,HMMSmart_CASc" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52129,HMMSmart_CASc,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors GRIA4 2893 genome.wustl.edu 36 11 105281230 105281230 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 105281230 105281230 C A SNP GRIA4 NM_000829 human genbank 54_36p 1 reviewed missense c.1151 p.P384H 0.93 superfamily_SSF53822 "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors KBTBD3 143879 genome.wustl.edu 36 11 105434873 105434873 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 105434873 105434873 G T SNP KBTBD3 NM_152433 human genbank 54_36p -1 validated missense c.162 p.F54L 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors MRVI1 10335 genome.wustl.edu 36 11 10607749 10607749 + Silent SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 10607749 10607749 C T SNP MRVI1 NM_001098579 human genbank 54_36p -1 reviewed silent c.459 p.A153 1 NULL HMMPfam_MRVI1 - no_errors LOC642732 642732 genome.wustl.edu 36 11 106201074 106201074 + RNA SNP G A A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 106201074 106201074 G A SNP LOC642732 XR_016381 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC642732 642732 genome.wustl.edu 36 11 106203375 106203375 + RNA SNP G C C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 106203375 106203375 G C SNP LOC642732 XR_016381 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CUL5 8065 genome.wustl.edu 36 11 107430593 107430593 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107430593 107430593 G T SNP CUL5 NM_003478 human genbank 54_36p 1 validated missense c.563 p.C188F 1 "superfamily_Cullin repeat,HMMPfam_Cullin" "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_Winged helix DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors ACAT1 38 genome.wustl.edu 36 11 107511134 107511134 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107511134 107511134 G T SNP ACAT1 NM_000019 human genbank 54_36p 1 reviewed missense c.390 p.M130I 1 "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1" "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors ACAT1 38 genome.wustl.edu 36 11 107511160 107511160 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107511160 107511160 G A SNP ACAT1 NM_000019 human genbank 54_36p 1 reviewed missense c.416 p.S139N 1 "HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,superfamily_Thiolase-like" "HMMPfam_Thiolase_N,HMMPfam_Thiolase_C,PatternScan_THIOLASE_1,PatternScan_THIOLASE_3,PatternScan_THIOLASE_2,superfamily_Thiolase-like" - no_errors NPAT 4863 genome.wustl.edu 36 11 107537471 107537471 + Silent SNP T T C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107537471 107537471 T C SNP NPAT NM_002519 human genbank 54_36p -1 validated silent c.3552 p.S1184 0.46 NULL HMMSmart_SM00667 - no_errors ATM 472 genome.wustl.edu 36 11 107658692 107658692 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107658692 107658692 G C SNP ATM NM_000051 human genbank 54_36p 1 reviewed missense c.3622 p.D1208H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors ATM 472 genome.wustl.edu 36 11 107707384 107707384 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107707384 107707384 G A SNP ATM NM_000051 human genbank 54_36p 1 reviewed missense c.7519 p.D2507N 0.1 superfamily_ARM repeat "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors ARHGAP20 57569 genome.wustl.edu 36 11 109955919 109955919 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 109955919 109955919 G T SNP ARHGAP20 NM_020809 human genbank 54_36p -1 validated missense c.2961 p.D987E 0.01 NULL "superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_RA,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP20 57569 genome.wustl.edu 36 11 109958322 109958322 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 109958322 109958322 A T SNP ARHGAP20 NM_020809 human genbank 54_36p -1 validated missense c.1653 p.F551L 1 superfamily_GTPase activation domain GAP "HMMPfam_RA,HMMPfam_RhoGAP,HMMSmart_SM00324,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ALG9 79796 genome.wustl.edu 36 11 111229327 111229327 + Nonsense_Mutation SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111229327 111229327 C T SNP ALG9 NM_024740 human genbank 54_36p -1 reviewed nonsense c.882 p.W294* 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HSPB2 3316 genome.wustl.edu 36 11 111289671 111289671 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111289671 111289671 C A SNP HSPB2 NM_001541 human genbank 54_36p 1 validated silent c.391 p.R131 1 "superfamily_HSP20-like chaperones,HMMPfam_HSP20" "superfamily_HSP20-like chaperones,HMMPfam_HSP20" - no_errors DLAT 1737 genome.wustl.edu 36 11 111404779 111404779 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 111404779 111404779 C G SNP DLAT NM_001931 human genbank 54_36p 1 validated missense c.560 p.P187R 0.63 superfamily_Single hybrid motif ############################################################################################################################################################################################################################################################### - no_errors PIH1D2 120379 genome.wustl.edu 36 11 111443833 111443833 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111443833 111443833 G A SNP PIH1D2 NM_138789 human genbank 54_36p -1 validated missense c.920 p.T307M 0.42 HMMPfam_PIH1 HMMPfam_PIH1 - no_errors NCAM1 4684 genome.wustl.edu 36 11 112583779 112583779 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 112583779 112583779 T C SNP NCAM1 ENST00000404693 human ensembl 54_36p 1 known missense c.407 p.I136T 0.97 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors ZBTB16 7704 genome.wustl.edu 36 11 113440042 113440042 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 113440042 113440042 C A SNP ZBTB16 NM_001018011 human genbank 54_36p 1 reviewed missense c.810 p.D270E 1 NULL "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors NNMT 4837 genome.wustl.edu 36 11 113672574 113672574 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 113672574 113672574 C G SNP NNMT NM_006169 human genbank 54_36p 1 reviewed missense c.86 p.S29C 0.69 "HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_NNMT_PNMT_TEMT" - no_errors RBM7 10179 genome.wustl.edu 36 11 113783439 113783439 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 113783439 113783439 A T SNP RBM7 NM_016090 human genbank 54_36p 1 provisional missense c.501 p.Q167H 0.13 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors FAM55B 120406 genome.wustl.edu 36 11 114074434 114074434 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 114074434 114074434 G A SNP FAM55B ENST00000375475 human ensembl 54_36p 1 known missense c.590 p.S197N 1 NULL superfamily_E set domains - no_errors CADM1 23705 genome.wustl.edu 36 11 114554637 114554637 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 114554637 114554637 C A SNP CADM1 NM_014333 human genbank 54_36p -1 validated missense c.1147 p.V383L 1 NULL "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_ig,HMMSmart_SM00294" - no_errors CADM1 23705 genome.wustl.edu 36 11 114593903 114593903 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 114593903 114593903 A T SNP CADM1 NM_014333 human genbank 54_36p -1 validated missense c.740 p.I247N 1 superfamily_Immunoglobulin "HMMSmart_SM00294,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIK3 23387 genome.wustl.edu 36 11 116237306 116237306 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 116237306 116237306 T G SNP KIAA0999 NM_025164 human genbank 54_36p -1 validated missense c.2001 p.L667F 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BACE1 23621 genome.wustl.edu 36 11 116666422 116666422 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 116666422 116666422 G C SNP BACE1 NM_012104 human genbank 54_36p -1 reviewed missense c.1256 p.A419G 1 superfamily_Acid proteases "superfamily_Acid proteases,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors CEP164 22897 genome.wustl.edu 36 11 116727895 116727896 + Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 116727895 116727896 - C INS CEP164 NM_014956 human genbank 54_36p 1 validated frame_shift_ins c.374_375 p.K128fs 0.964:0.403 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW" - no_errors DSCAML1 57453 genome.wustl.edu 36 11 117156448 117156448 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117156448 117156448 T A SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.514 p.I172F 1 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors FXYD2 100287298 genome.wustl.edu 36 11 117196784 117196784 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 117196784 117196784 C T SNP FXYD2 NM_001680 human genbank 54_36p -1 reviewed missense c.176 p.R59K 0.24 HMMPfam_ATP1G1_PLM_MAT8 "HMMPfam_ATP1G1_PLM_MAT8,PatternScan_FXYD" - no_errors CD3D 915 genome.wustl.edu 36 11 117716412 117716412 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117716412 117716412 G A SNP CD3D NM_000732 human genbank 54_36p -1 reviewed silent c.162 p.D54 0 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_ITAM,HMMSmart_SM00077" - no_errors MLL 4297 genome.wustl.edu 36 11 117869054 117869054 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117869054 117869054 G C SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.5068 p.D1690H 1 HMMSmart_SM00297 ############################################################################################################################################################################################################################################################### - no_errors MLL 4297 genome.wustl.edu 36 11 117878814 117878814 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117878814 117878814 A G SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.6988 p.K2330E 0.81 NULL ############################################################################################################################################################################################################################################################### - no_errors ARCN1 372 genome.wustl.edu 36 11 117959773 117959773 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 117959773 117959773 G C SNP ARCN1 NM_001655 human genbank 54_36p 1 reviewed missense c.487 p.A163P 1 NULL "superfamily_SNARE-like,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,HMMPfam_Adap_comp_sub" - no_errors PHLDB1 23187 genome.wustl.edu 36 11 118007142 118007143 + Missense_Mutation DNP GC GC CT novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 GC GC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 118007142 118007143 GC CT DNP PHLDB1 NM_015157 human genbank 54_36p 1 validated missense c.1836_1837 p.QR612HC 1.000:1.000 NULL "superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors BCL9L 283149 genome.wustl.edu 36 11 118277624 118277624 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118277624 118277624 G A SNP BCL9L NM_182557 human genbank 54_36p -1 validated missense c.2038 p.R680W 1 NULL PatternScan_RIBOSOMAL_S6E - no_errors VPS11 55823 genome.wustl.edu 36 11 118446271 118446271 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118446271 118446271 C G SNP VPS11 ENST00000300793 human ensembl 54_36p 1 known missense c.587 p.A196G 0.99 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors VPS11 55823 genome.wustl.edu 36 11 118453922 118453922 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118453922 118453922 G A SNP VPS11 ENST00000300793 human ensembl 54_36p 1 known missense c.1694 p.G565E 0.49 NULL "HMMSmart_SM00184,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors HINFP 25988 genome.wustl.edu 36 11 118506671 118506671 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118506671 118506671 G C SNP HINFP NM_015517 human genbank 54_36p 1 validated missense c.208 p.E70Q 1 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,superfamily_SSF57667" - no_errors ABCG4 64137 genome.wustl.edu 36 11 118536908 118536908 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118536908 118536908 C T SNP ABCG4 NM_022169 human genbank 54_36p 1 reviewed missense c.1823 p.A608V 0.8 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors MCAM 4162 genome.wustl.edu 36 11 118688545 118688545 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118688545 118688545 C T SNP MCAM NM_006500 human genbank 54_36p -1 validated missense c.763 p.E255K 1 superfamily_Immunoglobulin "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors RNF26 79102 genome.wustl.edu 36 11 118712206 118712206 + Silent SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118712206 118712206 G A SNP RNF26 NM_032015 human genbank 54_36p 1 reviewed silent c.1164 p.K388 1 "superfamily_RING/U-box,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMPfam_zf-C3HC4" - no_errors PVRL1 5818 genome.wustl.edu 36 11 119050543 119050543 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 119050543 119050543 C T SNP PVRL1 NM_203286 human genbank 54_36p -1 validated missense c.1028 p.G343D 0.03 NULL "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv,HMMPfam_C2-set_2,HMMSmart_IG,HMMPfam_ig" - no_errors SC5DL 6309 genome.wustl.edu 36 11 120682321 120682321 + Silent SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120682321 120682321 C T SNP SC5DL NM_001024956 human genbank 54_36p 1 reviewed silent c.360 p.V120 0 NULL HMMPfam_FA_hydroxylase - no_errors SORL1 6653 genome.wustl.edu 36 11 120896761 120896761 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120896761 120896761 A G SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed missense c.1397 p.N466S 1 "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602" ############################################################################################################################################################################################################################################################### - no_errors SORL1 6653 genome.wustl.edu 36 11 120926506 120926506 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120926506 120926506 A G SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed missense c.2183 p.Y728C 1 HMMSmart_SM00602 ############################################################################################################################################################################################################################################################### - no_errors SORL1 6653 genome.wustl.edu 36 11 120967008 120967008 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120967008 120967008 C T SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed silent c.4302 p.D1434 1 "HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module" ############################################################################################################################################################################################################################################################### - no_errors MUC5B 727897 genome.wustl.edu 36 11 1220871 1220871 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 1220871 1220871 C T SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.6194 p.T2065I 0 NULL "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1" - no_errors CRTAM 56253 genome.wustl.edu 36 11 122231688 122231688 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122231688 122231688 G T SNP CRTAM NM_019604 human genbank 54_36p 1 validated missense c.566 p.G189V 0.01 "superfamily_Immunoglobulin,HMMPfam_C2-set_2" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2" - no_errors C11orf63 79864 genome.wustl.edu 36 11 122279934 122279934 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122279934 122279934 G C SNP C11orf63 NM_024806 human genbank 54_36p 1 validated missense c.436 p.A146P 0.01 NULL NULL - no_errors C11orf63 79864 genome.wustl.edu 36 11 122335312 122335312 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122335312 122335312 C T SNP C11orf63 NM_024806 human genbank 54_36p 1 validated silent c.2286 p.H762 1 NULL NULL - no_errors MUC5B 727897 genome.wustl.edu 36 11 1223834 1223834 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 1223834 1223834 A G SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.9157 p.T3053A 0 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL" - no_errors ASAM 79827 genome.wustl.edu 36 11 122459124 122459124 + Silent SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122459124 122459124 G A SNP ASAM NM_024769 human genbank 54_36p -1 validated silent c.558 p.D186 1 "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMSmart_IGc2,HMMPfam_ig" - no_errors SCN3B 55800 genome.wustl.edu 36 11 123014126 123014126 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123014126 123014126 C T SNP SCN3B NM_001040151 human genbank 54_36p -1 reviewed missense c.562 p.E188K 0.99 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors SCN3B 55800 genome.wustl.edu 36 11 123018415 123018415 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123018415 123018415 G A SNP SCN3B NM_001040151 human genbank 54_36p -1 reviewed missense c.394 p.R132W 0.97 "HMMSmart_SM00409,HMMPfam_V-set" "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors ZNF202 7753 genome.wustl.edu 36 11 123102703 123102703 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123102703 123102703 T C SNP ZNF202 NM_003455 human genbank 54_36p -1 validated missense c.1159 p.T387A 0.16 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors OR6X1 390260 genome.wustl.edu 36 11 123130200 123130200 + Silent SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123130200 123130200 C T SNP OR6X1 NM_001005188 human genbank 54_36p -1 provisional silent c.237 p.L79 0.22 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4D5 219875 genome.wustl.edu 36 11 123316252 123316252 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123316252 123316252 G C SNP OR4D5 NM_001001965 human genbank 54_36p 1 provisional missense c.719 p.C240S 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR10G7 390265 genome.wustl.edu 36 11 123414444 123414444 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123414444 123414444 T C SNP OR10G7 NM_001004463 human genbank 54_36p -1 provisional missense c.475 p.T159A 0.07 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10G7 390265 genome.wustl.edu 36 11 123414884 123414884 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123414884 123414884 A T SNP OR10G7 NM_001004463 human genbank 54_36p -1 provisional missense c.35 p.L12H 0.95 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8G5 219865 genome.wustl.edu 36 11 123640505 123640505 + Silent SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123640505 123640505 G A SNP OR8G5 NM_001005198 human genbank 54_36p 1 provisional silent c.573 p.A191 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8B3 390271 genome.wustl.edu 36 11 123772093 123772093 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123772093 123772093 C T SNP OR8B3 NM_001005467 human genbank 54_36p -1 provisional missense c.365 p.R122H 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8B8 26493 genome.wustl.edu 36 11 123815699 123815699 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123815699 123815699 C G SNP OR8B8 NM_012378 human genbank 54_36p -1 provisional missense c.493 p.G165R 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8A1 390275 genome.wustl.edu 36 11 123945635 123945635 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123945635 123945635 C T SNP OR8A1 NM_001005194 human genbank 54_36p 1 provisional missense c.461 p.S154F 0.08 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors VSIG2 23584 genome.wustl.edu 36 11 124123564 124123564 + Silent SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124123564 124123564 G A SNP VSIG2 NM_014312 human genbank 54_36p -1 provisional silent c.783 p.F261 0.98 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors VSIG2 23584 genome.wustl.edu 36 11 124125917 124125920 + Frame_Shift_Del DEL GTCA GTCA - novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 GTCA GTCA GTCA - GTCA GTCA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124125917 124125920 GTCA - DEL VSIG2 NM_014312 human genbank 54_36p -1 provisional frame_shift_del c.330_327 p.D110fs 0.066:0.117:0.122:0.118 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" "(deletion:cds_exon[124125820,124126027])" no_errors ROBO3 64221 genome.wustl.edu 36 11 124255593 124255593 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124255593 124255593 C T SNP ROBO3 NM_022370 human genbank 54_36p 1 validated missense c.4028 p.T1343M 0.96 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ROBO4 54538 genome.wustl.edu 36 11 124268986 124268986 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124268986 124268986 G T SNP ROBO4 NM_019055 human genbank 54_36p -1 validated missense c.1484 p.A495D 0.02 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors CCDC15 80071 genome.wustl.edu 36 11 124362919 124362919 + Silent SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124362919 124362919 C G SNP CCDC15 NM_025004 human genbank 54_36p 1 validated silent c.1587 p.G529 0.05 NULL NULL - no_errors PKNOX2 63876 genome.wustl.edu 36 11 124743010 124743010 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124743010 124743010 C T SNP PKNOX2 NM_022062 human genbank 54_36p 1 validated missense c.146 p.S49L 1 NULL "PatternScan_HOMEOBOX_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors DDX25 29118 genome.wustl.edu 36 11 125292231 125292231 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 125292231 125292231 G C SNP DDX25 NM_013264 human genbank 54_36p 1 reviewed missense c.571 p.E191Q 1 HMMSmart_SM00487 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors CDON 50937 genome.wustl.edu 36 11 125379068 125379068 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 125379068 125379068 C A SNP CDON NM_016952 human genbank 54_36p -1 validated missense c.1965 p.M655I 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors FLI1 2313 genome.wustl.edu 36 11 128185583 128185583 + Silent SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 128185583 128185583 G A SNP FLI1 NM_002017 human genbank 54_36p 1 validated silent c.849 p.L283 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1" "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors NFRKB 4798 genome.wustl.edu 36 11 129244766 129244766 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129244766 129244766 C G SNP NFRKB NM_006165 human genbank 54_36p -1 validated missense c.3439 p.G1147R 0.79 NULL NULL - no_errors APLP2 334 genome.wustl.edu 36 11 129484610 129484610 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129484610 129484610 T C SNP APLP2 NM_001642 human genbank 54_36p 1 validated missense c.182 p.M61T 1 "HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_A heparin-binding domain" ############################################################################################################################################################################################################################################################### - no_errors APLP2 334 genome.wustl.edu 36 11 129515549 129515549 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129515549 129515549 G T SNP APLP2 NM_001642 human genbank 54_36p 1 validated missense c.1920 p.E640D 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ST14 6768 genome.wustl.edu 36 11 129575215 129575215 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129575215 129575215 A C SNP ST14 NM_021978 human genbank 54_36p 1 reviewed missense c.1967 p.H656P 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" ############################################################################################################################################################################################################################################################### - no_errors SNX19 399979 genome.wustl.edu 36 11 130290258 130290258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 130290258 130290258 C A SNP SNX19 NM_014758 human genbank 54_36p -1 validated missense c.787 p.V263L 0 "HMMPfam_PXA,HMMSmart_SM00313" "HMMPfam_PXA,HMMSmart_SM00313,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_Nexin_C" - no_errors SNX19 399979 genome.wustl.edu 36 11 130290809 130290809 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 130290809 130290809 A G SNP SNX19 NM_014758 human genbank 54_36p -1 validated missense c.236 p.L79P 1 NULL "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,HMMPfam_PXA,HMMPfam_Nexin_C,HMMSmart_SM00313" - no_errors NTM 50863 genome.wustl.edu 36 11 131521404 131521404 + Silent SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 131521404 131521404 G A SNP NTM NM_001048209 human genbank 54_36p 1 reviewed silent c.186 p.R62 1 "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig" - no_errors NTM 50863 genome.wustl.edu 36 11 131689818 131689818 + Silent SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 131689818 131689818 G T SNP HNT ENST00000374784 human ensembl 54_36p 1 known silent c.945 p.V315 0.96 NULL "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors JAM3 83700 genome.wustl.edu 36 11 133444255 133444255 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 133444255 133444255 C A SNP JAM3 NM_032801 human genbank 54_36p 1 reviewed missense c.202 p.L68I 0.78 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors NCAPD3 23310 genome.wustl.edu 36 11 133533032 133533032 + Splice_Site SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 133533032 133533032 C A SNP NCAPD3 NM_015261 human genbank 54_36p -1 validated splice_site c.4174+1 e31+1 0.07 - - - no_errors PTH 5741 genome.wustl.edu 36 11 13470546 13470546 + Silent SNP A A G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 13470546 13470546 A G SNP PTH NM_000315 human genbank 54_36p -1 reviewed silent c.330 p.T110 0.06 HMMPfam_Parathyroid "HMMPfam_Parathyroid,HMMSmart_PTH,PatternScan_PARATHYROID" - no_errors FAR1 84188 genome.wustl.edu 36 11 13705692 13705692 + Missense_Mutation SNP A T T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 13705692 13705692 A T SNP FAR1 NM_032228 human genbank 54_36p 1 validated missense c.1271 p.D424V 1 HMMPfam_Sterile "superfamily_NAD(P)-bd,HMMPfam_NAD_binding_4,HMMPfam_Sterile" - no_errors CYP2R1 120227 genome.wustl.edu 36 11 14858846 14858846 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 14858846 14858846 G A SNP CYP2R1 NM_024514 human genbank 54_36p -1 reviewed nonsense c.412 p.R138* 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors KRTAP5-3 387266 genome.wustl.edu 36 11 1585657 1585657 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 1585657 1585657 C A SNP KRTAP5-3 NM_001012708 human genbank 54_36p -1 validated missense c.535 p.G179C 0.18 PatternScan_VWFC_1 "PatternScan_4FE4S_FER_1,PatternScan_VWFC_1" - no_errors SOX6 55553 genome.wustl.edu 36 11 15967251 15967251 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 15967251 15967251 G A SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed missense c.1774 p.R592C 1 superfamily_HMG-box "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors SOX6 55553 genome.wustl.edu 36 11 16296734 16296734 + Silent SNP T T G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 16296734 16296734 T G SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed silent c.279 p.R93 1 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box" - no_errors PIK3C2A 5286 genome.wustl.edu 36 11 17128748 17128748 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17128748 17128748 G C SNP PIK3C2A NM_002645 human genbank 54_36p -1 validated missense c.1200 p.H400Q 0.01 superfamily_Ubiquitin-like ############################################################################################################################################################################################################################################################### - no_errors KCNJ11 3767 genome.wustl.edu 36 11 17365114 17365121 + Frame_Shift_Del DEL GGGCCCGC GGGCCCGC - novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 GGGCCCGC GGGCCCGC GGGCCCGC - GGGCCCGC GGGCCCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17365114 17365121 GGGCCCGC - DEL KCNJ11 NM_000525 human genbank 54_36p -1 reviewed frame_shift_del c.1101_1094 p.R365fs 0.057:0.060:0.050:0.001:0.001:0.001:0.000:0.001 HMMPfam_IRK "HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set" "(deletion:cds_exon[17365042,17366214])" no_errors USH1C 10083 genome.wustl.edu 36 11 17505139 17505139 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17505139 17505139 C A SNP USH1C NM_153676 human genbank 54_36p -1 reviewed missense c.521 p.S174I 1 superfamily_PDZ "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors MYOD1 4654 genome.wustl.edu 36 11 17698019 17698019 + Silent SNP G T T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17698019 17698019 G T SNP MYOD1 NM_002478 human genbank 54_36p 1 reviewed silent c.114 p.P38 0.97 "HMMPfam_Basic,HMMSmart_BASIC" "HMMPfam_Basic,HMMSmart_BASIC,superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors IGSF22 283284 genome.wustl.edu 36 11 18687509 18687509 + Splice_Site SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18687509 18687509 C T SNP IGSF22 NM_173588 human genbank 54_36p -1 validated splice_site c.2695+1 e16+1 1 - - - no_errors IGSF22 283284 genome.wustl.edu 36 11 18693664 18693664 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18693664 18693664 C G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated missense c.1422 p.E474D 0.99 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors IGSF22 283284 genome.wustl.edu 36 11 18699666 18699666 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 18699666 18699666 C G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated missense c.370 p.V124L 0.99 "HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726" - no_errors PTPN5 84867 genome.wustl.edu 36 11 18707988 18707988 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18707988 18707988 A T SNP PTPN5 ENST00000396166 human ensembl 54_36p -1 known missense c.101 p.L34Q 0 HMMSmart_PTPc "HMMSmart_PTPc,HMMPfam_Y_phosphatase,superfamily_SSF52799,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPN5 84867 genome.wustl.edu 36 11 18716018 18716018 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18716018 18716018 T C SNP PTPN5 NM_006906 human genbank 54_36p -1 validated missense c.985 p.K329E 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors NAV2 89797 genome.wustl.edu 36 11 20075774 20075774 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 20075774 20075774 G C SNP NAV2 NM_182964 human genbank 54_36p 1 validated missense c.6265 p.E2089Q 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors DBX1 120237 genome.wustl.edu 36 11 20138083 20138083 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 20138083 20138083 T C SNP DBX1 NM_001029865 human genbank 54_36p -1 inferred missense c.364 p.T122A 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors LOC645490 645490 genome.wustl.edu 36 11 20552850 20552851 + Missense_Mutation DNP GG TC TC novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 GG GG TC TC GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 20552850 20552851 GG TC DNP LOC645490 XM_928515 human genbank 54_36p 1 model missense c.325_326 p.G109S 1.000:1.000 "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" "HMMSmart_SM00398,superfamily_HMG-box,HMMPfam_HMG_box" - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22337568 22337569 + Silent DNP CC CC AT novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 CC CC CC AT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 22337568 22337569 CC AT DNP SLC17A6 NM_020346 human genbank 54_36p 1 validated silent c.492_493 p.STLN163 1.000:1.000 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22354124 22354124 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 22354124 22354124 C A SNP SLC17A6 NM_020346 human genbank 54_36p 1 validated missense c.1195 p.L399M 0.93 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22354787 22354787 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 22354787 22354787 A G SNP SLC17A6 NM_020346 human genbank 54_36p 1 validated missense c.1406 p.K469R 1 superfamily_MFS_gen_substrate_transporter "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors TRPM5 29850 genome.wustl.edu 36 11 2389468 2389468 + Silent SNP G C C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2389468 2389468 G C SNP TRPM5 NM_014555 human genbank 54_36p -1 validated silent c.2580 p.G860 0.99 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors KCNQ1 3784 genome.wustl.edu 36 11 2561263 2561263 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2561263 2561263 A T SNP KCNQ1 NM_000218 human genbank 54_36p 1 reviewed missense c.944 p.Y315F 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors SLC5A12 159963 genome.wustl.edu 36 11 26651643 26651643 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 26651643 26651643 C T SNP SLC5A12 NM_178498 human genbank 54_36p -1 validated missense c.1589 p.R530K 0 NULL HMMPfam_SSF - no_errors KIF18A 81930 genome.wustl.edu 36 11 28014590 28014590 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 28014590 28014590 T A SNP KIF18A NM_031217 human genbank 54_36p -1 validated missense c.2146 p.N716Y 0 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors NAP1L4 4676 genome.wustl.edu 36 11 2937577 2937577 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2937577 2937577 C T SNP NAP1L4 NM_005969 human genbank 54_36p -1 reviewed missense c.745 p.G249R 1 HMMPfam_NAP HMMPfam_NAP - no_errors CARS 833 genome.wustl.edu 36 11 2995080 2995080 + Silent SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 2995080 2995080 T A SNP CARS NM_001014437 human genbank 54_36p -1 reviewed silent c.1749 p.A583 0.86 NULL "superfamily_SSF52374,HMMPfam_tRNA-synt_1e" - no_errors KCNA4 3739 genome.wustl.edu 36 11 29989393 29989393 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 29989393 29989393 G T SNP KCNA4 NM_002233 human genbank 54_36p -1 reviewed missense c.1409 p.T470N 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CARS 833 genome.wustl.edu 36 11 3004584 3004584 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 3004584 3004584 C G SNP CARS NM_001014437 human genbank 54_36p -1 reviewed missense c.1051 p.V351L 1 "HMMPfam_tRNA-synt_1e,superfamily_SSF52374" "HMMPfam_tRNA-synt_1e,superfamily_SSF52374" - no_errors FSHB 2488 genome.wustl.edu 36 11 30211747 30211747 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 30211747 30211747 A G SNP FSHB NM_000510 human genbank 54_36p 1 reviewed missense c.214 p.K72E 1 "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501" "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2" - no_errors FSHB 2488 genome.wustl.edu 36 11 30211794 30211794 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 30211794 30211794 T C SNP FSHB NM_000510 human genbank 54_36p 1 reviewed silent c.261 p.H87 0.19 "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501" "HMMSmart_GHB,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_SSF57501" - no_errors CCDC73 493860 genome.wustl.edu 36 11 32592805 32592805 + Silent SNP T T G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 32592805 32592805 T G SNP CCDC73 NM_001008391 human genbank 54_36p -1 validated silent c.1635 p.I545 0.58 NULL NULL - no_errors QSER1 79832 genome.wustl.edu 36 11 32954531 32954531 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 32954531 32954531 T C SNP QSER1 NM_001076786 human genbank 54_36p 1 provisional missense c.5143 p.W1715R 1 NULL NULL - no_errors HIPK3 10114 genome.wustl.edu 36 11 33315267 33315268 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 33315267 33315268 GA TT DNP HIPK3 NM_005734 human genbank 54_36p 1 validated missense c.1292_1293 p.R431I 1.000:1.000 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CAPRIN1 4076 genome.wustl.edu 36 11 34054722 34054722 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 34054722 34054722 G T SNP CAPRIN1 NM_005898 human genbank 54_36p 1 validated missense c.645 p.W215C 1 NULL NULL - no_errors CAT 847 genome.wustl.edu 36 11 34427407 34427407 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 34427407 34427407 G A SNP CAT NM_001752 human genbank 54_36p 1 validated silent c.159 p.Q53 1 "superfamily_Catalase_N,HMMPfam_Catalase" "superfamily_Catalase_N,HMMPfam_Catalase,PatternScan_CATALASE_2,PatternScan_CATALASE_1,HMMPfam_Catalase-rel" - no_errors SLC1A2 6506 genome.wustl.edu 36 11 35265049 35265055 + Frame_Shift_Del DEL GAAAGGT GAAAGGT - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GAAAGGT GAAAGGT GAAAGGT - GAAAGGT GAAAGGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35265049 35265055 GAAAGGT - DEL SLC1A2 NM_004171 human genbank 54_36p -1 reviewed frame_shift_del c.1117_1111 p.T371fs 1.000:1.000:1.000:1.000:0.998:1.000:1.000 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" "(deletion:cds_exon[35264880,35265074])" no_errors SLC1A2 6506 genome.wustl.edu 36 11 35290516 35290516 + Silent SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35290516 35290516 C A SNP SLC1A2 NM_004171 human genbank 54_36p -1 reviewed silent c.366 p.V122 1 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors PAMR1 25891 genome.wustl.edu 36 11 35410599 35410599 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35410599 35410599 G A SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated missense c.2095 p.R699C 0.08 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "HMMSmart_EGF,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" - no_errors PAMR1 25891 genome.wustl.edu 36 11 35452801 35452801 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35452801 35452801 G C SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated missense c.447 p.H149Q 1 "HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB" "HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,HMMPfam_EGF,HMMSmart_EGF,superfamily_Pept_Ser_Cys,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,superfamily_SSF57196" - no_errors PRR5L 79899 genome.wustl.edu 36 11 36397401 36397401 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 36397401 36397401 T A SNP FLJ14213 NM_024841 human genbank 54_36p 1 provisional missense c.266 p.L89H 1 HMMPfam_HbrB HMMPfam_HbrB - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40092681 40092681 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 40092681 40092681 G C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated missense c.1738 p.P580A 1 NULL "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40092829 40092829 + Silent SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 40092829 40092829 A T SNP LRRC4C NM_020929 human genbank 54_36p -1 validated silent c.1590 p.I530 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40094160 40094160 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 40094160 40094160 G C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated missense c.259 p.Q87E 1 "HMMSmart_SM00369,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors TTC17 55761 genome.wustl.edu 36 11 43422283 43422283 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 43422283 43422283 C G SNP TTC17 NM_018259 human genbank 54_36p 1 provisional nonsense c.2613 p.Y871* 0.95 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors TRIM21 6737 genome.wustl.edu 36 11 4363210 4363210 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4363210 4363210 C T SNP TRIM21 NM_003141 human genbank 54_36p -1 reviewed missense c.1309 p.A437T 0.45 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors TRIM21 6737 genome.wustl.edu 36 11 4366267 4366267 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4366267 4366267 C G SNP TRIM21 NM_003141 human genbank 54_36p -1 reviewed missense c.574 p.E192Q 0.98 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,HMMSmart_PRY,PatternScan_ZF_RING_1,HMMSmart_SPRY,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors TP53I11 9537 genome.wustl.edu 36 11 44913053 44913053 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 44913053 44913053 A C SNP TP53I11 NM_001076787 human genbank 54_36p -1 validated missense c.528 p.I176M 1 NULL NULL - no_errors SYT13 57586 genome.wustl.edu 36 11 45230638 45230638 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 45230638 45230638 G C SNP SYT13 NM_020826 human genbank 54_36p -1 validated missense c.756 p.H252Q 0.99 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00239" - no_errors C11orf40 143501 genome.wustl.edu 36 11 4551264 4551264 + Silent SNP A A G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4551264 4551264 A G SNP C11orf40 NM_144663 human genbank 54_36p -1 predicted silent c.156 p.N52 0 NULL NULL - no_errors PEX16 9409 genome.wustl.edu 36 11 45892454 45892454 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 45892454 45892454 G A SNP PEX16 NM_057174 human genbank 54_36p -1 reviewed missense c.683 p.P228L 1 HMMPfam_Pex16 HMMPfam_Pex16 - no_errors GYLTL1B 120071 genome.wustl.edu 36 11 45904852 45904852 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 45904852 45904852 G A SNP GYLTL1B NM_152312 human genbank 54_36p 1 validated silent c.1179 p.L393 1 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" - no_errors CREB3L1 90993 genome.wustl.edu 36 11 46289268 46289268 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46289268 46289268 G A SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known silent c.705 p.A235 0.67 NULL "superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors CREB3L1 90993 genome.wustl.edu 36 11 46294513 46294513 + Splice_Site SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46294513 46294513 G T SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known splice_site c.1131+1 e9+1 1 - - - no_errors OR51E2 81285 genome.wustl.edu 36 11 4659616 4659616 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4659616 4659616 C A SNP OR51E2 NM_030774 human genbank 54_36p -1 validated missense c.902 p.R301L 0.14 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors F2 2147 genome.wustl.edu 36 11 46704017 46704017 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46704017 46704017 C T SNP F2 NM_000506 human genbank 54_36p 1 reviewed missense c.592 p.R198C 0.02 superfamily_Kringle-like ############################################################################################################################################################################################################################################################### - no_errors CKAP5 9793 genome.wustl.edu 36 11 46775067 46775067 + Splice_Site SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46775067 46775067 C T SNP CKAP5 NM_001008938 human genbank 54_36p -1 validated splice_site c.1339-1 e11-1 1 - - - no_errors ACP2 53 genome.wustl.edu 36 11 47223461 47223461 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47223461 47223461 A G SNP ACP2 NM_001610 human genbank 54_36p -1 reviewed missense c.610 p.W204R 1 "HMMPfam_Acid_phosphat_A,superfamily_SSF53254" "HMMPfam_Acid_phosphat_A,superfamily_SSF53254,PatternScan_HIS_ACID_PHOSPHAT_1,PatternScan_HIS_ACID_PHOSPHAT_2" - no_errors NR1H3 10062 genome.wustl.edu 36 11 47246815 47246815 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47246815 47246815 C T SNP NR1H3 NM_005693 human genbank 54_36p 1 validated missense c.1336 p.H446Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MADD 8567 genome.wustl.edu 36 11 47267100 47267100 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47267100 47267100 G A SNP MADD NM_003682 human genbank 54_36p 1 reviewed missense c.2659 p.G887R 1 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMSmart_SM00801,HMMPfam_dDENN" - no_errors MADD 8567 genome.wustl.edu 36 11 47289962 47289962 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47289962 47289962 C T SNP MADD NM_003682 human genbank 54_36p 1 reviewed missense c.4262 p.A1421V 0.92 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800" - no_errors PSMC3 5702 genome.wustl.edu 36 11 47398461 47398461 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47398461 47398461 C A SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed nonsense c.1057 p.E353* 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors PSMC3 5702 genome.wustl.edu 36 11 47401073 47401073 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47401073 47401073 T G SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed missense c.619 p.N207H 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PSMC3 5702 genome.wustl.edu 36 11 47402214 47402214 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47402214 47402214 G A SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed nonsense c.550 p.Q184* 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CELF1 10658 genome.wustl.edu 36 11 47464899 47464899 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47464899 47464899 C G SNP CUGBP1 NM_001025596 human genbank 54_36p -1 reviewed missense c.289 p.A97P 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors KBTBD4 55709 genome.wustl.edu 36 11 47553810 47553810 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47553810 47553810 G T SNP KBTBD4 NM_016506 human genbank 54_36p -1 validated missense c.607 p.Q203K 1 HMMPfam_BACK "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMPfam_Kelch_2,superfamily_Gal_oxid_central,HMMPfam_Kelch_1" - no_errors AGBL2 79841 genome.wustl.edu 36 11 47638436 47638436 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47638436 47638436 C G SNP AGBL2 NM_024783 human genbank 54_36p -1 validated missense c.2574 p.K858N 0.08 NULL "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" - no_errors NUP160 23279 genome.wustl.edu 36 11 47786597 47786597 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47786597 47786597 G A SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.2302 p.P768S 0.98 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors NUP160 23279 genome.wustl.edu 36 11 47826422 47826422 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47826422 47826422 G A SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.127 p.R43W 0.57 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors OR4S1 256148 genome.wustl.edu 36 11 48285216 48285216 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48285216 48285216 A T SNP OR4S1 NM_001004725 human genbank 54_36p 1 provisional missense c.866 p.N289I 0.33 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51T1 401665 genome.wustl.edu 36 11 4860452 4860452 + Silent SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4860452 4860452 A C SNP OR51T1 NM_001004759 human genbank 54_36p 1 provisional silent c.828 p.A276 0.24 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51A7 119687 genome.wustl.edu 36 11 4885418 4885418 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4885418 4885418 G A SNP OR51A7 NM_001004749 human genbank 54_36p 1 provisional missense c.243 p.M81I 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LOC120824 120824 genome.wustl.edu 36 11 48953697 48953697 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48953697 48953697 G A SNP LOC120824 XM_062300 human genbank 54_36p -1 model silent c.1288 p.L430 0.71 HMMPfam_SPRY "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY" - no_errors LOC340970 340970 genome.wustl.edu 36 11 48963952 48963952 + RNA SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48963952 48963952 A G SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC340970 340970 genome.wustl.edu 36 11 48965650 48965650 + RNA SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48965650 48965650 G T SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC283116 283116 genome.wustl.edu 36 11 49009893 49009893 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49009893 49009893 A C SNP LOC283116 XM_208043 human genbank 54_36p 1 model missense c.166 p.T56P 0.65 superfamily_SSF57850 "PatternScan_ZF_RING_1,superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_SPRY" - no_errors OR51G1 79324 genome.wustl.edu 36 11 4901325 4901325 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4901325 4901325 A G SNP OR51G1 NM_001005237 human genbank 54_36p -1 provisional missense c.821 p.V274A 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LOC283116 283116 genome.wustl.edu 36 11 49016060 49016060 + Silent SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49016060 49016060 T C SNP LOC283116 XM_208043 human genbank 54_36p 1 model silent c.1314 p.S438 0.09 HMMPfam_SPRY "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors OR51A4 401666 genome.wustl.edu 36 11 4924258 4924258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4924258 4924258 C A SNP OR51A4 NM_001005329 human genbank 54_36p -1 provisional missense c.649 p.V217L 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51A4 401666 genome.wustl.edu 36 11 4924365 4924365 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4924365 4924365 C T SNP OR51A4 NM_001005329 human genbank 54_36p -1 provisional missense c.542 p.C181Y 0.99 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC729960 729960 genome.wustl.edu 36 11 49348473 49348473 + RNA SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49348473 49348473 T A SNP LOC729960 XR_016034 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC387770 387770 genome.wustl.edu 36 11 49850158 49850158 + RNA SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49850158 49850158 A T SNP LOC387770 XR_017307 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene OR4C12 283093 genome.wustl.edu 36 11 49960414 49960414 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49960414 49960414 A G SNP OR4C12 NM_001005270 human genbank 54_36p -1 provisional missense c.200 p.I67T 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR52A1 23538 genome.wustl.edu 36 11 5129570 5129570 + Silent SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 5129570 5129570 A G SNP OR52A1 NM_012375 human genbank 54_36p -1 validated silent c.606 p.G202 0.03 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4C46 119749 genome.wustl.edu 36 11 51372438 51372438 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 51372438 51372438 A T SNP OR4C46 NM_001004703 human genbank 54_36p 1 provisional missense c.581 p.E194V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR51B2 79345 genome.wustl.edu 36 11 5301582 5301582 + Silent SNP A A C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5301582 5301582 A C SNP OR51B2 NM_033180 human genbank 54_36p -1 validated silent c.522 p.R174 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR51I2 390064 genome.wustl.edu 36 11 5432027 5432027 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5432027 5432027 A G SNP OR51I2 NM_001004754 human genbank 54_36p 1 provisional missense c.733 p.I245V 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors UBQLN3 50613 genome.wustl.edu 36 11 5486713 5486713 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5486713 5486713 G A SNP UBQLN3 NM_017481 human genbank 54_36p -1 reviewed missense c.652 p.R218W 1 HMMSmart_STI1 "PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin,HMMSmart_STI1,superfamily_UBA_like,HMMSmart_UBA,HMMPfam_UBA" - no_errors OR4C16 219428 genome.wustl.edu 36 11 55096435 55096435 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55096435 55096435 A T SNP OR4C16 NM_001004701 human genbank 54_36p 1 validated nonsense c.256 p.K86* 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52H1 390067 genome.wustl.edu 36 11 5523114 5523114 + Silent SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5523114 5523114 G C SNP OR52H1 NM_001005289 human genbank 54_36p -1 provisional silent c.216 p.S72 0.96 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR5D14 219436 genome.wustl.edu 36 11 55319848 55319848 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55319848 55319848 C A SNP OR5D14 NM_001004735 human genbank 54_36p 1 provisional missense c.241 p.P81T 0.64 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5D18 219438 genome.wustl.edu 36 11 55343867 55343867 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55343867 55343867 T G SNP OR5D18 NM_001001952 human genbank 54_36p 1 provisional missense c.186 p.F62L 0.96 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5D16 390144 genome.wustl.edu 36 11 55362906 55362906 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55362906 55362906 G C SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.103 p.A35P 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5D16 390144 genome.wustl.edu 36 11 55363647 55363647 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55363647 55363647 G A SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.844 p.V282M 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors SPRYD5 84767 genome.wustl.edu 36 11 55409881 55409881 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55409881 55409881 A T SNP SPRYD5 ENST00000327733 human ensembl 54_36p 1 known missense c.422 p.E141V 0.95 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY" - no_start_codon OR5I1 10798 genome.wustl.edu 36 11 55459861 55459861 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55459861 55459861 C T SNP OR5I1 NM_006637 human genbank 54_36p -1 reviewed missense c.592 p.E198K 0.8 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5I1 10798 genome.wustl.edu 36 11 55460276 55460276 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 55460276 55460276 G A SNP OR5I1 NM_006637 human genbank 54_36p -1 reviewed silent c.177 p.T59 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR10AG1 282770 genome.wustl.edu 36 11 55491934 55491934 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 55491934 55491934 C T SNP OR10AG1 NM_001005491 human genbank 54_36p -1 provisional silent c.582 p.A194 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5AS1 219447 genome.wustl.edu 36 11 55555264 55555264 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55555264 55555264 G C SNP OR5AS1 NM_001001921 human genbank 54_36p 1 provisional missense c.794 p.S265T 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5AS1 219447 genome.wustl.edu 36 11 55555307 55555307 + Silent SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55555307 55555307 T G SNP OR5AS1 NM_001001921 human genbank 54_36p 1 provisional silent c.837 p.T279 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8H2 390151 genome.wustl.edu 36 11 55629539 55629539 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55629539 55629539 T G SNP OR8H2 NM_001005200 human genbank 54_36p 1 provisional missense c.445 p.Y149D 0.4 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8H3 390152 genome.wustl.edu 36 11 55646944 55646944 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55646944 55646944 A T SNP OR8H3 NM_001005201 human genbank 54_36p 1 provisional missense c.520 p.I174F 0.52 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5T2 219464 genome.wustl.edu 36 11 55756971 55756971 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55756971 55756971 A G SNP OR5T2 NM_001004746 human genbank 54_36p -1 provisional silent c.267 p.I89 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5T1 390155 genome.wustl.edu 36 11 55800327 55800327 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55800327 55800327 T C SNP OR5T1 NM_001004745 human genbank 54_36p 1 provisional missense c.637 p.Y213H 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8K3 219473 genome.wustl.edu 36 11 55842832 55842832 + Silent SNP A A T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55842832 55842832 A T SNP OR8K3 NM_001005202 human genbank 54_36p 1 provisional silent c.474 p.L158 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8J1 219477 genome.wustl.edu 36 11 55884585 55884585 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55884585 55884585 A C SNP OR8J1 NM_001005205 human genbank 54_36p 1 provisional missense c.287 p.E96A 0.95 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8U1 219417 genome.wustl.edu 36 11 55899806 55899806 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55899806 55899806 G A SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.131 p.G44D 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8U1 219417 genome.wustl.edu 36 11 55899999 55899999 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55899999 55899999 G T SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.324 p.M108I 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8U1 219417 genome.wustl.edu 36 11 55900385 55900385 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55900385 55900385 C A SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.710 p.A237D 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5R1 219479 genome.wustl.edu 36 11 55941420 55941420 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55941420 55941420 T A SNP OR5R1 NM_001004744 human genbank 54_36p -1 provisional missense c.865 p.I289F 0.91 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5M3 219482 genome.wustl.edu 36 11 55994078 55994078 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55994078 55994078 T C SNP OR5M3 NM_001004742 human genbank 54_36p -1 provisional missense c.472 p.T158A 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M1 390168 genome.wustl.edu 36 11 56136973 56136973 + Silent SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 56136973 56136973 G C SNP OR5M1 NM_001004740 human genbank 54_36p -1 provisional silent c.582 p.V194 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M1 390168 genome.wustl.edu 36 11 56137236 56137236 + Silent SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56137236 56137236 G A SNP OR5M1 NM_001004740 human genbank 54_36p -1 provisional silent c.319 p.L107 0.29 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5AK2 390181 genome.wustl.edu 36 11 56513550 56513550 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56513550 56513550 A G SNP OR5AK2 NM_001005323 human genbank 54_36p 1 provisional missense c.586 p.I196V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5AK2 390181 genome.wustl.edu 36 11 56513893 56513893 + Nonstop_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56513893 56513893 A C SNP OR5AK2 NM_001005323 human genbank 54_36p 1 provisional nonstop c.929 p.*310S 0 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors SMTNL1 219537 genome.wustl.edu 36 11 57067040 57067040 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57067040 57067040 G T SNP SMTNL1 NM_001105565 human genbank 54_36p 1 provisional nonsense c.403 p.E135* 0.12 NULL "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" - no_errors CTNND1 1500 genome.wustl.edu 36 11 57329980 57329980 + Silent SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57329980 57329980 C T SNP CTNND1 NM_001085458 human genbank 54_36p 1 validated silent c.1773 p.H591 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors OR9Q2 219957 genome.wustl.edu 36 11 57714852 57714852 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57714852 57714852 C A SNP OR9Q2 NM_001005283 human genbank 54_36p 1 provisional missense c.314 p.T105N 0.34 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10Q1 219960 genome.wustl.edu 36 11 57752201 57752201 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57752201 57752201 C T SNP OR10Q1 NM_001004471 human genbank 54_36p -1 provisional silent c.723 p.R241 0.42 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10Q1 219960 genome.wustl.edu 36 11 57752498 57752498 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57752498 57752498 G A SNP OR10Q1 NM_001004471 human genbank 54_36p -1 provisional silent c.426 p.R142 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5B2 390190 genome.wustl.edu 36 11 57946621 57946621 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57946621 57946621 C T SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional silent c.690 p.K230 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031608 58031608 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58031608 58031608 G C SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional missense c.547 p.L183V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031744 58031744 + Silent SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58031744 58031744 A G SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional silent c.411 p.G137 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031919 58031919 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58031919 58031919 G A SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional missense c.236 p.T79M 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors GLYATL2 219970 genome.wustl.edu 36 11 58361162 58361162 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58361162 58361162 A T SNP GLYATL2 NM_145016 human genbank 54_36p -1 validated missense c.378 p.D126E 0 "HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat)" "HMMPfam_Gly_acyl_tr_C,HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors GLYATL1 92292 genome.wustl.edu 36 11 58467706 58467706 + Silent SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58467706 58467706 A C SNP GLYATL1 NM_080661 human genbank 54_36p 1 provisional silent c.139 p.R47 0 HMMPfam_Gly_acyl_tr_N "HMMPfam_Gly_acyl_tr_N,superfamily_Acyl_CoA_acyltransferase,HMMPfam_Gly_acyl_tr_C" - no_errors OR52E4 390081 genome.wustl.edu 36 11 5862102 5862102 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5862102 5862102 C T SNP OR52E4 NM_001005165 human genbank 54_36p 1 provisional missense c.4 p.P2S 0.17 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FAM111B 374393 genome.wustl.edu 36 11 58649138 58649138 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58649138 58649138 G A SNP FAM111B NM_198947 human genbank 54_36p 1 validated missense c.992 p.S331N 0 NULL superfamily_Trypsin-like serine proteases - no_errors FAM111A 63901 genome.wustl.edu 36 11 58676814 58676814 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58676814 58676814 C G SNP FAM111A NM_022074 human genbank 54_36p 1 validated missense c.1097 p.T366S 0.03 superfamily_Pept_Ser_Cys superfamily_Pept_Ser_Cys - no_errors FAM111A 63901 genome.wustl.edu 36 11 58676910 58676910 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58676910 58676910 G C SNP FAM111A NM_022074 human genbank 54_36p 1 validated missense c.1193 p.S398T 0 superfamily_Pept_Ser_Cys superfamily_Pept_Ser_Cys - no_errors MPEG1 219972 genome.wustl.edu 36 11 58735419 58735419 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 58735419 58735419 G C SNP MPEG1 NM_001039396 human genbank 54_36p -1 validated missense c.1496 p.A499G 0.17 NULL "PatternScan_MAC_PERFORIN,HMMPfam_MACPF,HMMSmart_MACPF" - no_errors OR4D6 219983 genome.wustl.edu 36 11 58981869 58981869 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58981869 58981869 A C SNP OR4D6 NM_001004708 human genbank 54_36p 1 provisional missense c.860 p.Y287S 0.99 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4D10 390197 genome.wustl.edu 36 11 59001705 59001705 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59001705 59001705 T C SNP OR4D10 NM_001004705 human genbank 54_36p 1 provisional missense c.227 p.I76T 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4D11 219986 genome.wustl.edu 36 11 59028161 59028161 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59028161 59028161 C T SNP OR4D11 NM_001004706 human genbank 54_36p 1 provisional silent c.537 p.C179 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors PATL1 219988 genome.wustl.edu 36 11 59179634 59179634 + Silent SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59179634 59179634 G C SNP PATL1 NM_152716 human genbank 54_36p -1 validated silent c.540 p.P180 0.91 HMMPfam_PAT1 HMMPfam_PAT1 - no_errors STX3 6809 genome.wustl.edu 36 11 59317198 59317198 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59317198 59317198 A G SNP STX3 NM_004177 human genbank 54_36p 1 provisional missense c.517 p.N173D 1 superfamily_t-snare proteins "HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors GIF 2694 genome.wustl.edu 36 11 59366546 59366546 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59366546 59366546 T A SNP GIF NM_005142 human genbank 54_36p -1 reviewed missense c.457 p.I153L 0.01 HMMPfam_Cobalamin_bind "HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING" - no_errors PLAC1L 219990 genome.wustl.edu 36 11 59567597 59567597 + Silent SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59567597 59567597 G A SNP PLAC1L NM_173801 human genbank 54_36p 1 provisional silent c.144 p.A48 0.52 NULL NULL - no_errors MS4A2 2206 genome.wustl.edu 36 11 59619683 59619683 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59619683 59619683 T C SNP MS4A2 NM_000139 human genbank 54_36p 1 reviewed missense c.713 p.M238T 0 NULL HMMPfam_CD20 - no_errors LOC643680 643680 genome.wustl.edu 36 11 59753973 59753973 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59753973 59753973 G A SNP LOC643680 XM_931901 human genbank 54_36p -1 model missense c.59 p.P20L 0.47 NULL HMMPfam_CD20 - no_errors MS4A7 58475 genome.wustl.edu 36 11 59917859 59917859 + Silent SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59917859 59917859 A T SNP MS4A7 NM_021201 human genbank 54_36p 1 reviewed silent c.672 p.S224 0.01 NULL HMMPfam_CD20 - no_errors MS4A1 931 genome.wustl.edu 36 11 59986428 59986428 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59986428 59986428 C A SNP MS4A1 NM_021950 human genbank 54_36p 1 reviewed missense c.5 p.T2K 0.98 NULL HMMPfam_CD20 - no_errors MS4A1 931 genome.wustl.edu 36 11 59987071 59987071 + Silent SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59987071 59987071 G T SNP MS4A1 NM_021950 human genbank 54_36p 1 reviewed silent c.180 p.G60 1 HMMPfam_CD20 HMMPfam_CD20 - no_errors OR56A1 120796 genome.wustl.edu 36 11 6005123 6005123 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6005123 6005123 A C SNP OR56A1 NM_001001917 human genbank 54_36p -1 provisional missense c.388 p.Y130D 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors MS4A15 219995 genome.wustl.edu 36 11 60287962 60287962 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60287962 60287962 G T SNP MS4A15 NM_001098835 human genbank 54_36p 1 validated missense c.180 p.L60F 0 NULL "HMMPfam_CD20,PatternScan_IG_MHC" - no_errors MS4A10 341116 genome.wustl.edu 36 11 60316331 60316331 + Silent SNP C A A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60316331 60316331 C A SNP MS4A10 NM_206893 human genbank 54_36p 1 validated silent c.321 p.I107 0.15 HMMPfam_CD20 HMMPfam_CD20 - no_errors GPR44 11251 genome.wustl.edu 36 11 60377379 60377379 + Silent SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60377379 60377379 C A SNP GPR44 NM_004778 human genbank 54_36p -1 validated silent c.393 p.L131 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PGA3 643834 genome.wustl.edu 36 11 60728299 60728299 + Silent SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60728299 60728299 C A SNP PGA3 NM_001079807 human genbank 54_36p 1 validated silent c.201 p.P67 0.19 superfamily_Acid proteases "superfamily_Acid proteases,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors VWCE 220001 genome.wustl.edu 36 11 60798568 60798568 + Silent SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60798568 60798568 C T SNP VWCE NM_152718 human genbank 54_36p -1 validated silent c.1560 p.E520 0.96 "HMMSmart_SM00215,HMMPfam_VWC,HMMSmart_SM00214" ############################################################################################################################################################################################################################################################### - no_errors DDB1 1642 genome.wustl.edu 36 11 60835831 60835832 + Splice_Site DNP CC CC AA novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60835831 60835832 CC AA DNP DDB1 NM_001923 human genbank 54_36p -1 validated splice_site c.2277+2_2277+1 e19-1 1.000:1.000 - - - no_errors SDHAF2 54949 genome.wustl.edu 36 11 60962141 60962141 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60962141 60962141 A G SNP C11orf79 NM_017841 human genbank 54_36p 1 predicted missense c.350 p.D117G 1 "superfamily_DUF339,HMMPfam_DUF339" "superfamily_DUF339,HMMPfam_DUF339" - no_errors C11orf66 220004 genome.wustl.edu 36 11 61011203 61011203 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61011203 61011203 G C SNP C11orf66 NM_145017 human genbank 54_36p 1 provisional missense c.958 p.G320R 1 NULL NULL - no_errors RPLP0P2 113157 genome.wustl.edu 36 11 61161394 61161394 + RNA SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61161394 61161394 G A SNP RPLP0P2 NR_002775 human genbank 54_36p 1 inferred rna NULL NULL 1 - - - pseudogene DAGLA 747 genome.wustl.edu 36 11 61265376 61265376 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61265376 61265376 A C SNP DAGLA NM_006133 human genbank 54_36p 1 validated missense c.2150 p.D717A 0.99 NULL "superfamily_SSF53474,HMMPfam_Lipase_3,PatternScan_LIPASE_SER" - no_errors DAGLA 747 genome.wustl.edu 36 11 61267804 61267804 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61267804 61267804 G C SNP DAGLA NM_006133 human genbank 54_36p 1 validated missense c.2396 p.G799A 1 NULL "HMMPfam_Lipase_3,PatternScan_LIPASE_SER,superfamily_SSF53474" - no_errors FEN1 2237 genome.wustl.edu 36 11 61320362 61320362 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61320362 61320362 A T SNP FEN1 NM_004111 human genbank 54_36p 1 reviewed missense c.953 p.E318V 1 superfamily_5' to 3' exonuclease C-terminal subdomain "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors SCGB2A2 4250 genome.wustl.edu 36 11 61794293 61794293 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61794293 61794293 C T SNP SCGB2A2 NM_002411 human genbank 54_36p 1 provisional missense c.29 p.A10V 0.01 HMMPfam_Uteroglobin "HMMPfam_Uteroglobin,superfamily_Uteroglobin-like" - no_errors C11orf42 160298 genome.wustl.edu 36 11 6188395 6188395 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6188395 6188395 C A SNP C11orf42 NM_173525 human genbank 54_36p 1 predicted missense c.812 p.P271H 0.99 NULL NULL - no_errors FAM160A2 84067 genome.wustl.edu 36 11 6195620 6195620 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 6195620 6195620 C T SNP FAM160A2 NM_032127 human genbank 54_36p -1 validated missense c.1814 p.R605Q 1 NULL HMMPfam_RAI16-like - no_errors AHNAK 79026 genome.wustl.edu 36 11 62041703 62041703 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62041703 62041703 A C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.16762 p.L5588V 0 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 genome.wustl.edu 36 11 62050359 62050359 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62050359 62050359 G C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.8106 p.I2702M 0.4 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 genome.wustl.edu 36 11 62052072 62052072 + Silent SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 62052072 62052072 G C SNP AHNAK NM_001620 human genbank 54_36p -1 validated silent c.6393 p.V2131 0.69 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors EEF1G 1937 genome.wustl.edu 36 11 62097881 62097881 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 62097881 62097881 C A SNP EEF1G NM_001404 human genbank 54_36p -1 reviewed missense c.10 p.G4W 1 "HMMPfam_GST_N,superfamily_Thioredoxin-like" "HMMPfam_GST_N,superfamily_Thioredoxin-like,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C,HMMPfam_EF1G,superfamily_eEF1-gamma domain" - no_errors ROM1 6094 genome.wustl.edu 36 11 62137886 62137886 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62137886 62137886 G A SNP ROM1 NM_000327 human genbank 54_36p 1 reviewed missense c.557 p.R186H 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" - no_errors GANAB 23193 genome.wustl.edu 36 11 62163677 62163677 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62163677 62163677 G A SNP GANAB NM_198335 human genbank 54_36p -1 validated silent c.141 p.C47 1 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2" - no_errors TTC9C 283237 genome.wustl.edu 36 11 62253040 62253040 + Silent SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62253040 62253040 G T SNP TTC9C NM_173810 human genbank 54_36p 1 provisional silent c.144 p.P48 0 superfamily_TPR-like "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2" - no_errors CCKBR 887 genome.wustl.edu 36 11 6248984 6248984 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6248984 6248984 G C SNP CCKBR NM_176875 human genbank 54_36p 1 reviewed missense c.979 p.A327P 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SLC22A8 9376 genome.wustl.edu 36 11 62523831 62523831 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62523831 62523831 C G SNP SLC22A8 NM_004254 human genbank 54_36p -1 reviewed missense c.497 p.G166A 0 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC22A25 387601 genome.wustl.edu 36 11 62688035 62688035 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62688035 62688035 C T SNP SLC22A25 NM_199352 human genbank 54_36p -1 validated missense c.1481 p.R494Q 0 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC22A25 387601 genome.wustl.edu 36 11 62753695 62753695 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62753695 62753695 G A SNP SLC22A25 NM_199352 human genbank 54_36p -1 validated silent c.6 p.A2 0.92 NULL "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors LGALS12 85329 genome.wustl.edu 36 11 63039744 63039744 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63039744 63039744 C T SNP LGALS12 NM_033101 human genbank 54_36p 1 validated missense c.847 p.P283S 0.98 "HMMPfam_Gal-bind_lectin,superfamily_Concanavalin A-like lectins/glucanases" "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin" - no_errors RARRES3 5920 genome.wustl.edu 36 11 63063575 63063575 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63063575 63063575 G T SNP RARRES3 NM_004585 human genbank 54_36p 1 validated missense c.21 p.E7D 0 NULL HMMPfam_NC - no_errors PLA2G16 11145 genome.wustl.edu 36 11 63114251 63114251 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63114251 63114251 C T SNP PLA2G16 NM_007069 human genbank 54_36p -1 validated missense c.284 p.R95Q 0.98 HMMPfam_NC HMMPfam_NC - no_errors RTN3 10313 genome.wustl.edu 36 11 63280187 63280187 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63280187 63280187 G A SNP RTN3 NM_201428 human genbank 54_36p 1 validated missense c.2965 p.A989T 0.66 HMMPfam_Reticulon HMMPfam_Reticulon - no_errors MARK2 2011 genome.wustl.edu 36 11 63423980 63423980 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63423980 63423980 G A SNP MARK2 NM_017490 human genbank 54_36p 1 reviewed missense c.491 p.S164N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Kinase associated domain 1 KA1,HMMPfam_KA1" - no_errors STIP1 10963 genome.wustl.edu 36 11 63718248 63718248 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63718248 63718248 A G SNP STIP1 NM_006819 human genbank 54_36p 1 validated silent c.231 p.R77 0.77 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMSmart_STI1" - no_errors FERMT3 83706 genome.wustl.edu 36 11 63745130 63745130 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63745130 63745130 C T SNP FERMT3 NM_178443 human genbank 54_36p 1 validated missense c.1624 p.R542C 1 "HMMSmart_SM00295,HMMPfam_FERM_M,superfamily_Second domain of FERM,PatternScan_FERM_2" "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,PatternScan_FERM_2" - no_errors PLCB3 5331 genome.wustl.edu 36 11 63786536 63786536 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63786536 63786536 G A SNP PLCB3 NM_000932 human genbank 54_36p 1 provisional missense c.2120 p.R707Q 1 superfamily_PLC-like phosphodiesterases "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63868078 63868078 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63868078 63868078 G C SNP CCDC88B NM_032251 human genbank 54_36p 1 validated missense c.1489 p.V497L 0 NULL NULL - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63876809 63876809 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63876809 63876809 C T SNP CCDC88B NM_032251 human genbank 54_36p 1 validated missense c.3374 p.A1125V 0.96 NULL NULL - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63877766 63877766 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63877766 63877766 C G SNP CCDC88B NM_032251 human genbank 54_36p 1 validated missense c.3837 p.D1279E 1 NULL NULL - no_errors RPS6KA4 8986 genome.wustl.edu 36 11 63885946 63885946 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63885946 63885946 G A SNP RPS6KA4 NM_003942 human genbank 54_36p 1 reviewed missense c.802 p.V268M 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ODR_DC_2_1,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C" - no_errors SLC22A11 55867 genome.wustl.edu 36 11 64080374 64080374 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64080374 64080374 C T SNP SLC22A11 NM_018484 human genbank 54_36p 1 reviewed silent c.327 p.D109 0.04 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC22A12 116085 genome.wustl.edu 36 11 64115725 64115747 + Frame_Shift_Del DEL TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG - novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG - TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64115725 64115747 TCGGCCGCCGTGCCCAGCCACCG - DEL SLC22A12 NM_144585 human genbank 54_36p 1 reviewed frame_shift_del c.121_143 p.S41fs 0.998:0.996:0.987:0.993:0.953:0.668:0.677:0.636:0.570:0.906:0.968:0.970:0.997:0.994:0.765:0.719:0.719:0.758:0.997:1.000:0.998:1.000:1.000 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "(deletion:cds_exon[64115605,64116006])" no_errors NRXN2 9379 genome.wustl.edu 36 11 64146987 64146987 + Silent SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64146987 64146987 G T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.3987 p.P1329 1 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294" - no_errors ATG2A 23130 genome.wustl.edu 36 11 64436297 64436297 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64436297 64436297 T A SNP ATG2A NM_015104 human genbank 54_36p -1 provisional missense c.923 p.D308V 0.5 NULL "PatternScan_OX2_COVAL_FAD,HMMPfam_ATG_C,PatternScan_ADH_ZINC" - no_errors BATF2 116071 genome.wustl.edu 36 11 64513696 64513696 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64513696 64513696 C T SNP BATF2 NM_138456 human genbank 54_36p -1 validated silent c.306 p.Q102 0.03 NULL "HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors SNX15 29907 genome.wustl.edu 36 11 64556496 64556496 + Silent SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64556496 64556496 G T SNP SNX15 NM_013306 human genbank 54_36p 1 reviewed silent c.153 p.R51 1 "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT" - no_errors TM7SF2 7108 genome.wustl.edu 36 11 64637637 64637637 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64637637 64637637 G C SNP TM7SF2 NM_003273 human genbank 54_36p 1 validated missense c.598 p.G200R 1 HMMPfam_ERG4_ERG24 "HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1,PatternScan_STEROL_REDUCT_2" - no_errors SYVN1 84447 genome.wustl.edu 36 11 64653850 64653850 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64653850 64653850 G A SNP SYVN1 NM_172230 human genbank 54_36p -1 reviewed missense c.1522 p.R508C 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors DNHD1 144132 genome.wustl.edu 36 11 6486753 6486753 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6486753 6486753 G C SNP DNHD1 NM_173589 human genbank 54_36p 1 validated missense c.988 p.G330R 1 NULL NULL - no_errors MALAT1 378938 genome.wustl.edu 36 11 65025006 65025006 + RNA SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65025006 65025006 G T SNP MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors MALAT1 378938 genome.wustl.edu 36 11 65026678 65026678 + RNA SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65026678 65026678 C T SNP MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors MALAT1 378938 genome.wustl.edu 36 11 65028263 65028264 + RNA INS - - GA novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 - - - GA - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 65028263 65028264 - GA INS MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 0.996:1.000 - - - no_errors RELA 5970 genome.wustl.edu 36 11 65184219 65184219 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65184219 65184219 C G SNP RELA NM_021975 human genbank 54_36p -1 validated missense c.379 p.E127Q 1 "superfamily_p53-like transcription factors,HMMPfam_RHD" "superfamily_p53-like transcription factors,HMMPfam_RHD,PatternScan_REL_1,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" - no_errors FIBP 9158 genome.wustl.edu 36 11 65408520 65408520 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65408520 65408520 C T SNP FIBP NM_198897 human genbank 54_36p -1 reviewed missense c.944 p.R315H 1 HMMPfam_FIBP HMMPfam_FIBP - no_errors SF3B2 10992 genome.wustl.edu 36 11 65585750 65585750 + Silent SNP A A G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65585750 65585750 A G SNP SF3B2 NM_006842 human genbank 54_36p 1 reviewed silent c.1797 p.T599 0.1 NULL "HMMPfam_SAP,HMMSmart_SM00513,HMMPfam_DUF382,HMMSmart_SM00581,HMMPfam_PSP" - no_errors PACS1 55690 genome.wustl.edu 36 11 65759368 65759368 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65759368 65759368 C G SNP PACS1 NM_018026 human genbank 54_36p 1 reviewed missense c.2125 p.R709G 0.89 HMMPfam_Pacs-1 HMMPfam_Pacs-1 - no_errors PELI3 246330 genome.wustl.edu 36 11 65997320 65997320 + Silent SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65997320 65997320 C T SNP PELI3 NM_145065 human genbank 54_36p 1 validated silent c.489 p.F163 0.92 HMMPfam_Pellino HMMPfam_Pellino - no_errors DPP3 10072 genome.wustl.edu 36 11 66028817 66028817 + Silent SNP T T G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66028817 66028817 T G SNP DPP3 NM_005700 human genbank 54_36p 1 reviewed silent c.2037 p.L679 0.97 HMMPfam_Peptidase_M49 HMMPfam_Peptidase_M49 - no_errors CCDC87 55231 genome.wustl.edu 36 11 66116813 66116813 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66116813 66116813 T A SNP CCDC87 NM_018219 human genbank 54_36p -1 validated missense c.250 p.I84F 0.03 NULL NULL - no_errors RBM14 10432 genome.wustl.edu 36 11 66148264 66148264 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66148264 66148264 A G SNP RBM14 NM_006328 human genbank 54_36p 1 validated missense c.341 p.Y114C 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" - no_errors RBM14 10432 genome.wustl.edu 36 11 66150529 66150529 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66150529 66150529 A C SNP RBM14 NM_006328 human genbank 54_36p 1 validated missense c.1824 p.L608F 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors RBM4 5936 genome.wustl.edu 36 11 66168159 66168159 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66168159 66168159 G A SNP RBM4 NM_002896 human genbank 54_36p 1 validated missense c.1075 p.A359T 1 NULL "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors RCE1 9986 genome.wustl.edu 36 11 66367857 66367858 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 CA CA CA - CA CA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66367857 66367858 CA - DEL RCE1 NM_005133 human genbank 54_36p 1 reviewed frame_shift_del c.237_238 p.S82fs 1.000:1.000 NULL HMMPfam_Abi "(deletion:cds_exon[66367806,66367908])" no_errors PC 5091 genome.wustl.edu 36 11 66375126 66375126 + Silent SNP T T C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66375126 66375126 T C SNP PC NM_000920 human genbank 54_36p -1 reviewed silent c.2184 p.E728 0.81 "superfamily_SSF51569,HMMPfam_HMGL-like" ############################################################################################################################################################################################################################################################### - no_errors SYT12 91683 genome.wustl.edu 36 11 66567861 66567861 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66567861 66567861 G T SNP SYT12 NM_177963 human genbank 54_36p 1 provisional missense c.798 p.Q266H 1 "superfamily_C2_CaLB,HMMSmart_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors KDM2A 22992 genome.wustl.edu 36 11 66774457 66774457 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 66774457 66774457 A C SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.2380 p.I794L 1 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-CXXC,PatternScan_2FE2S_FER_1,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367" - no_errors KDM2A 22992 genome.wustl.edu 36 11 66778962 66778962 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66778962 66778962 C T SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.3349 p.R1117C 1 "HMMSmart_SM00367,superfamily_RNI-like" "HMMPfam_F-box,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00558,PatternScan_2FE2S_FER_1,HMMSmart_SM00367,HMMPfam_JmjC,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,superfamily_RNI-like" - no_errors TCIRG1 10312 genome.wustl.edu 36 11 67571713 67571713 + Silent SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 67571713 67571713 C A SNP TCIRG1 NM_006019 human genbank 54_36p 1 reviewed silent c.1329 p.G443 1 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors SUV420H1 51111 genome.wustl.edu 36 11 67682106 67682106 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 67682106 67682106 C A SNP SUV420H1 NM_017635 human genbank 54_36p -1 reviewed missense c.2283 p.K761N 1 NULL "HMMPfam_SET,superfamily_SET domain,HMMSmart_SM00317" - no_errors SUV420H1 51111 genome.wustl.edu 36 11 67682381 67682381 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 67682381 67682381 G T SNP SUV420H1 NM_017635 human genbank 54_36p -1 reviewed missense c.2008 p.P670T 0.71 NULL "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors OR6A2 8590 genome.wustl.edu 36 11 6772872 6772872 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6772872 6772872 G T SNP OR6A2 NM_003696 human genbank 54_36p -1 provisional missense c.644 p.P215Q 0.27 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SHANK2 22941 genome.wustl.edu 36 11 70009842 70009842 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 70009842 70009842 C A SNP SHANK2 NM_012309 human genbank 54_36p -1 reviewed missense c.2419 p.D807Y 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors NLRP14 338323 genome.wustl.edu 36 11 7020928 7020928 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7020928 7020928 G A SNP NLRP14 NM_176822 human genbank 54_36p 1 reviewed missense c.1095 p.M365I 0.98 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047" - no_errors DHCR7 1717 genome.wustl.edu 36 11 70830965 70830965 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 70830965 70830965 G A SNP DHCR7 NM_001360 human genbank 54_36p -1 validated missense c.404 p.T135I 1 NULL "HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1,PatternScan_STEROL_REDUCT_2" - no_errors NUMA1 4926 genome.wustl.edu 36 11 71404009 71404023 + In_Frame_Del DEL CCAGGGCATCTGCAG CCAGGGCATCTGCAG - novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 CCAGGGCATCTGCAG CCAGGGCATCTGCAG CCAGGGCATCTGCAG - CCAGGGCATCTGCAG CCAGGGCATCTGCAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71404009 71404023 CCAGGGCATCTGCAG - DEL NUMA1 NM_006185 human genbank 54_36p -1 validated in_frame_del c.2188_2174 p.AADAL725in_frame_del 0.016:0.017:0.018:0.006:0.002:0.000:0.000:0.000:0.002:0.005:0.001:0.007:0.006:0.000:0.079 NULL superfamily_Prefoldin "(deletion:cds_exon[71401589,71404954])" no_errors FOLR1 2348 genome.wustl.edu 36 11 71584666 71584666 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71584666 71584666 G A SNP FOLR1 NM_000802 human genbank 54_36p 1 reviewed missense c.571 p.E191K 0.38 HMMPfam_Folate_rec HMMPfam_Folate_rec - no_errors INPPL1 3636 genome.wustl.edu 36 11 71618898 71618898 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71618898 71618898 G A SNP INPPL1 NM_001567 human genbank 54_36p 1 reviewed missense c.1025 p.R342Q 1 NULL "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors PDE2A 5138 genome.wustl.edu 36 11 71977887 71977887 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71977887 71977887 G T SNP PDE2A NM_002599 human genbank 54_36p -1 validated missense c.919 p.Q307K 1 "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065" "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors FCHSD2 9873 genome.wustl.edu 36 11 72231902 72231902 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 72231902 72231902 C T SNP FCHSD2 NM_014824 human genbank 54_36p -1 validated silent c.1479 p.T493 0.81 NULL "HMMPfam_FCH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors P2RY2 5029 genome.wustl.edu 36 11 72623231 72623231 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 72623231 72623231 A T SNP P2RY2 NM_002564 human genbank 54_36p 1 reviewed missense c.379 p.I127F 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors P2RY6 5031 genome.wustl.edu 36 11 72686049 72686049 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 72686049 72686049 G T SNP P2RY6 NM_004154 human genbank 54_36p 1 reviewed missense c.838 p.A280S 0.88 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors PLEKHB1 58473 genome.wustl.edu 36 11 73039304 73039304 + Silent SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 73039304 73039304 G T SNP PLEKHB1 NM_021200 human genbank 54_36p 1 validated silent c.153 p.L51 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors C2CD3 26005 genome.wustl.edu 36 11 73521642 73521642 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 73521642 73521642 C G SNP C2CD3 NM_015531 human genbank 54_36p -1 validated missense c.1112 p.R371P 0 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors PGM2L1 283209 genome.wustl.edu 36 11 73734324 73734324 + Silent SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 73734324 73734324 G A SNP PGM2L1 NM_173582 human genbank 54_36p -1 validated silent c.1056 p.F352 1 superfamily_Phosphoglucomutase first 3 domains "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase C-terminal domain" - no_errors SYT9 143425 genome.wustl.edu 36 11 7395807 7395807 + Silent SNP G G T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7395807 7395807 G T SNP SYT9 NM_175733 human genbank 54_36p 1 provisional silent c.1209 p.L403 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYT9 143425 genome.wustl.edu 36 11 7398412 7398412 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7398412 7398412 G A SNP SYT9 NM_175733 human genbank 54_36p 1 provisional silent c.1437 p.K479 1 "HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors POLD3 10714 genome.wustl.edu 36 11 74024916 74024916 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 74024916 74024916 A C SNP POLD3 NM_006591 human genbank 54_36p 1 validated missense c.1146 p.K382N 1 HMMPfam_CDC27 HMMPfam_CDC27 - no_errors RNF169 254225 genome.wustl.edu 36 11 74224512 74224512 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 74224512 74224512 A G SNP RNF169 NM_001098638 human genbank 54_36p 1 validated missense c.1216 p.I406V 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors OLFML1 283298 genome.wustl.edu 36 11 7466209 7466209 + Silent SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7466209 7466209 T A SNP OLFML1 NM_198474 human genbank 54_36p 1 provisional silent c.405 p.T135 0.29 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors OLFML1 283298 genome.wustl.edu 36 11 7487543 7487543 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7487543 7487543 C G SNP OLFML1 NM_198474 human genbank 54_36p 1 provisional missense c.757 p.P253A 0.85 "HMMPfam_OLF,HMMSmart_SM00284" "HMMPfam_OLF,HMMSmart_SM00284" - no_errors MOGAT2 80168 genome.wustl.edu 36 11 75106597 75106597 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75106597 75106597 C A SNP MOGAT2 NM_025098 human genbank 54_36p 1 provisional missense c.16 p.P6T 0.92 NULL HMMPfam_DAGAT - no_errors MOGAT2 80168 genome.wustl.edu 36 11 75116767 75116767 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75116767 75116767 G A SNP MOGAT2 NM_025098 human genbank 54_36p 1 provisional missense c.580 p.A194T 1 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors PRKRIR 5612 genome.wustl.edu 36 11 75739612 75739612 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 75739612 75739612 A G SNP PRKRIR NM_004705 human genbank 54_36p -1 provisional missense c.2230 p.Y744H 1 NULL "HMMPfam_THAP,HMMSmart_SM00692,HMMPfam_hATC" - no_errors PRKRIR 5612 genome.wustl.edu 36 11 75740173 75740173 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75740173 75740173 G A SNP PRKRIR NM_004705 human genbank 54_36p -1 provisional missense c.1669 p.R557C 1 NULL "HMMPfam_THAP,HMMSmart_SM00692,HMMPfam_hATC" - no_errors C11orf30 56946 genome.wustl.edu 36 11 75852728 75852728 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75852728 75852728 T C SNP C11orf30 NM_020193 human genbank 54_36p 1 validated missense c.787 p.F263L 1 NULL HMMPfam_ENT - no_errors PPFIBP2 8495 genome.wustl.edu 36 11 7617649 7617649 + Silent SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7617649 7617649 C T SNP PPFIBP2 NM_003621 human genbank 54_36p 1 validated silent c.1347 p.D449 0.08 NULL "HMMPfam_Integrase_DNA,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors MYO7A 4647 genome.wustl.edu 36 11 76548208 76548208 + Silent SNP C G G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 76548208 76548208 C G SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed silent c.1071 p.S357 0.3 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" ############################################################################################################################################################################################################################################################### - no_errors MYO7A 4647 genome.wustl.edu 36 11 76578105 76578105 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 76578105 76578105 G T SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.3572 p.G1191V 1 "HMMPfam_MyTH4,HMMSmart_SM00139" ############################################################################################################################################################################################################################################################### - no_errors MYO7A 4647 genome.wustl.edu 36 11 76591795 76591795 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 76591795 76591795 G C SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.5097 p.K1699N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors INTS4 92105 genome.wustl.edu 36 11 77349752 77349752 + Silent SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77349752 77349752 G C SNP INTS4 NM_033547 human genbank 54_36p -1 validated silent c.552 p.V184 0.63 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors ALG8 79053 genome.wustl.edu 36 11 77516105 77516105 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77516105 77516105 G C SNP ALG8 NM_024079 human genbank 54_36p -1 reviewed missense c.121 p.R41G 1 HMMPfam_Alg6_Alg8 HMMPfam_Alg6_Alg8 - no_errors USP35 57558 genome.wustl.edu 36 11 77594679 77594679 + Silent SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77594679 77594679 C G SNP USP35 NM_020798 human genbank 54_36p 1 validated silent c.1341 p.G447 0.92 "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors GAB2 9846 genome.wustl.edu 36 11 77612115 77612115 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77612115 77612115 C T SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed missense c.1558 p.D520N 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors NARS2 79731 genome.wustl.edu 36 11 77954928 77954928 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77954928 77954928 C G SNP NARS2 NM_024678 human genbank 54_36p -1 provisional missense c.411 p.E137D 0.99 "HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases" "superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases" - no_errors NARS2 79731 genome.wustl.edu 36 11 77957396 77957396 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77957396 77957396 C G SNP NARS2 NM_024678 human genbank 54_36p -1 provisional missense c.302 p.S101T 1 "HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins" "HMMPfam_tRNA-synt_2,HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins,superfamily_Class II aaRS and biotin synthetases" - no_errors ODZ4 26011 genome.wustl.edu 36 11 78065017 78065017 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 78065017 78065017 C T SNP ODZ4 NM_001098816 human genbank 54_36p -1 validated missense c.3338 p.G1113D 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_TolB C-terminal domain,HMMPfam_NHL,HMMPfam_RHS_repeat" - no_errors TUB 7275 genome.wustl.edu 36 11 8079097 8079097 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 8079097 8079097 T A SNP TUB NM_003320 human genbank 54_36p 1 reviewed missense c.1529 p.F510Y 1 "superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1" "superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2" - no_errors PCF11 51585 genome.wustl.edu 36 11 82546129 82546129 + Silent SNP A A C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 82546129 82546129 A C SNP PCF11 ENST00000298281 human ensembl 54_36p 1 known silent c.297 p.A99 1 NULL "superfamily_ENTH/VHS domain,HMMSmart_SM00582,HMMPfam_DUF618" - no_start_codon DLG2 1740 genome.wustl.edu 36 11 82858038 82858038 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 82858038 82858038 C T SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.2158 p.E720K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin" ############################################################################################################################################################################################################################################################### - no_errors DLG2 1740 genome.wustl.edu 36 11 82860373 82860373 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 82860373 82860373 C T SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.2075 p.R692Q 1 "superfamily_SH3-domain,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors DLG2 1740 genome.wustl.edu 36 11 83175364 83175364 + Silent SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 83175364 83175364 T C SNP DLG2 ENST00000398301 human ensembl 54_36p -1 known silent c.1644 p.K548 0 superfamily_PDZ "HMMPfam_MAGUK_N_PEST,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_PDZ_assoc,PatternScan_SERPIN" - no_errors STK33 65975 genome.wustl.edu 36 11 8370708 8370708 + Silent SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 8370708 8370708 C T SNP STK33 NM_030906 human genbank 54_36p -1 validated silent c.1470 p.V490 0 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors STK33 65975 genome.wustl.edu 36 11 8442866 8442866 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 8442866 8442866 G A SNP STK33 NM_030906 human genbank 54_36p -1 validated missense c.419 p.T140M 0.75 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors TMEM126A 84233 genome.wustl.edu 36 11 85042847 85042847 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85042847 85042847 T C SNP TMEM126A NM_032273 human genbank 54_36p 1 provisional missense c.179 p.V60A 1 HMMPfam_DUF1370 HMMPfam_DUF1370 - no_errors TMEM126A 84233 genome.wustl.edu 36 11 85044369 85044369 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85044369 85044369 G A SNP TMEM126A NM_032273 human genbank 54_36p 1 provisional missense c.364 p.A122T 1 HMMPfam_DUF1370 HMMPfam_DUF1370 - no_errors CREBZF 58487 genome.wustl.edu 36 11 85052903 85052903 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85052903 85052903 C A SNP CREBZF NM_001039618 human genbank 54_36p -1 validated missense c.665 p.R222L 1 HMMSmart_BRLZ "PatternScan_BZIP_BASIC,HMMSmart_BRLZ" - no_errors SYTL2 54843 genome.wustl.edu 36 11 85113990 85113990 + Silent SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85113990 85113990 C T SNP SYTL2 NM_206927 human genbank 54_36p -1 reviewed silent c.1158 p.S386 1 NULL "PatternScan_PHOSPHOPANTETHEINE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors PICALM 8301 genome.wustl.edu 36 11 85363443 85363443 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 85363443 85363443 C T SNP PICALM NM_007166 human genbank 54_36p -1 validated missense c.1900 p.V634I 1 NULL "superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_GAT-like domain" - no_errors TYR 7299 genome.wustl.edu 36 11 88564148 88564148 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 88564148 88564148 A C SNP TYR NM_000372 human genbank 54_36p 1 reviewed missense c.950 p.D317A 1 "superfamily_Di-copper centre-containing domain,HMMPfam_Tyrosinase" "superfamily_Di-copper centre-containing domain,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2" - no_errors NOX4 50507 genome.wustl.edu 36 11 88863277 88863277 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 88863277 88863277 C A SNP NOX4 NM_016931 human genbank 54_36p -1 reviewed missense c.150 p.L50F 1 NULL "HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_6" - no_errors FOLH1B 219595 genome.wustl.edu 36 11 89053438 89053438 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 89053438 89053438 G A SNP PSMAL NM_153696 human genbank 54_36p 1 predicted silent c.462 p.L154 1 superfamily_SSF53187 "superfamily_SSF53187,HMMPfam_Peptidase_M28,superfamily_Transferrin_rcpt-like_dimerise,HMMPfam_TFR_dimer" - no_errors FOLH1B 219595 genome.wustl.edu 36 11 89069480 89069480 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 89069480 89069480 C A SNP PSMAL NM_153696 human genbank 54_36p 1 predicted missense c.1078 p.L360I 1 "HMMPfam_TFR_dimer,superfamily_Transferrin_rcpt-like_dimerise" "HMMPfam_TFR_dimer,superfamily_Transferrin_rcpt-like_dimerise,HMMPfam_Peptidase_M28,superfamily_SSF53187" - no_errors HEPHL1 341208 genome.wustl.edu 36 11 93394202 93394202 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93394202 93394202 C T SNP HEPHL1 NM_001098672 human genbank 54_36p 1 validated missense c.20 p.A7V 0.51 NULL "superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2" - no_errors HEPHL1 341208 genome.wustl.edu 36 11 93478930 93478930 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93478930 93478930 A T SNP HEPHL1 NM_001098672 human genbank 54_36p 1 validated missense c.3031 p.S1011C 1 "superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2" "PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2,superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2,HMMPfam_Cu-oxidase_3" - no_errors GPR83 10888 genome.wustl.edu 36 11 93753026 93753026 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93753026 93753026 G T SNP GPR83 NM_016540 human genbank 54_36p -1 validated silent c.1209 p.T403 0.93 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CEP57 9702 genome.wustl.edu 36 11 95203847 95203847 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 95203847 95203847 C A SNP CEP57 NM_014679 human genbank 54_36p 1 validated missense c.1282 p.Q428K 0.99 NULL HMMPfam_DUF1167 - no_errors MAML2 84441 genome.wustl.edu 36 11 95351789 95351789 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 95351789 95351789 G A SNP MAML2 NM_032427 human genbank 54_36p -1 validated missense c.3442 p.L1148F 1 NULL HMMPfam_MamL-1 - no_errors MAML2 84441 genome.wustl.edu 36 11 95465303 95465303 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 95465303 95465303 T C SNP MAML2 NM_032427 human genbank 54_36p -1 validated missense c.1540 p.M514V 0.42 NULL HMMPfam_MamL-1 - no_errors SWAP70 23075 genome.wustl.edu 36 11 9702956 9702956 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 9702956 9702956 C A SNP SWAP70 NM_015055 human genbank 54_36p 1 validated missense c.590 p.S197Y 1 NULL "superfamily_SSF47473,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors SWAP70 23075 genome.wustl.edu 36 11 9726064 9726064 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 9726064 9726064 C T SNP SWAP70 NM_015055 human genbank 54_36p 1 validated missense c.1439 p.A480V 0.98 NULL "HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,superfamily_SSF50729" - no_errors CNTN5 53942 genome.wustl.edu 36 11 99567102 99567102 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 99567102 99567102 C G SNP CNTN5 NM_014361 human genbank 54_36p 1 reviewed missense c.1615 p.L539V 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_V-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors RBMXP4 100132580 genome.wustl.edu 36 4 110488171 110488171 + RNA SNP G A A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 110488171 110488171 G A SNP LOC100132580 XR_037807 human genbank 54_36p -1 model rna NULL NULL 0.02 - - - pseudogene FDXACB1 91893 genome.wustl.edu 36 11 111251600 111251600 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111251600 111251600 A T SNP FDXACB1 NM_138378 human genbank 54_36p -1 validated missense c.1131 p.F377L 1 NULL "HMMPfam_DUF2431,superfamily_Anticodon-binding domain of PheRS,HMMPfam_FDX-ACB" - no_errors LOC100132843 100132843 genome.wustl.edu 36 10 111430605 111430605 + RNA SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111430605 111430605 G A SNP LOC100132843 XR_037957 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene LOC100129929 100129929 genome.wustl.edu 36 3 11900053 11900053 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 11900053 11900053 G T SNP LOC100129929 XM_001716291 human genbank 54_36p 1 model nonsense c.715 p.E239* 1 NULL NULL - no_errors ANO4 121601 genome.wustl.edu 36 12 100014552 100014552 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 100014552 100014552 G A SNP ANO4 NM_178826 human genbank 54_36p 1 validated missense c.1741 p.G581R 1 NULL HMMPfam_DUF590 - no_errors GNPTAB 79158 genome.wustl.edu 36 12 100677965 100677965 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 100677965 100677965 G A SNP GNPTAB NM_024312 human genbank 54_36p -1 validated nonsense c.3223 p.Q1075* 1 NULL "HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_DMAP_binding,PatternScan_EF_HAND_1" - no_errors CLEC9A 283420 genome.wustl.edu 36 12 10098181 10098181 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10098181 10098181 G C SNP CLEC9A NM_207345 human genbank 54_36p 1 provisional missense c.136 p.G46R 0.05 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors PAH 5053 genome.wustl.edu 36 12 101812699 101812706 + Frame_Shift_Del DEL CTCAAGAT CTCAAGAT - novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 CTCAAGAT CTCAAGAT CTCAAGAT - CTCAAGAT CTCAAGAT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 101812699 101812706 CTCAAGAT - DEL PAH NM_000277 human genbank 54_36p -1 reviewed frame_shift_del c.296_289 p.I97fs 0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_SSF55021,HMMPfam_ACT" "superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL" "(deletion:cds_exon[101812643,101812826])" no_errors C12orf42 374470 genome.wustl.edu 36 12 102220257 102220257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 102220257 102220257 G A SNP C12orf42 NM_001099336 human genbank 54_36p -1 validated missense c.842 p.A281V 0.94 NULL NULL - no_errors C12orf42 374470 genome.wustl.edu 36 12 102220460 102220460 + Silent SNP G A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102220460 102220460 G A SNP C12orf42 NM_001099336 human genbank 54_36p -1 validated silent c.639 p.A213 0 NULL NULL - no_errors C12orf59 120939 genome.wustl.edu 36 12 10223492 10223492 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10223492 10223492 C T SNP C12orf59 NM_153022 human genbank 54_36p 1 validated silent c.36 p.S12 0.95 NULL NULL - no_errors STAB2 55576 genome.wustl.edu 36 12 102508878 102508878 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102508878 102508878 T A SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.155 p.V52D 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 genome.wustl.edu 36 12 102578251 102578251 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102578251 102578251 C T SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.1747 p.L583F 1 "HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 genome.wustl.edu 36 12 102655613 102655613 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102655613 102655613 C T SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed silent c.5622 p.A1874 1 "HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors NT5DC3 51559 genome.wustl.edu 36 12 102732871 102732871 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102732871 102732871 G A SNP NT5DC3 NM_001031701 human genbank 54_36p -1 validated missense c.367 p.R123W 1 superfamily_HAD-like "superfamily_HAD-like,HMMPfam_5_nucleotid" - no_errors TDG 6996 genome.wustl.edu 36 12 102900832 102900832 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102900832 102900832 G T SNP TDG NM_003211 human genbank 54_36p 1 reviewed missense c.604 p.D202Y 1 "superfamily_UDNA_glycsylseSF,HMMPfam_UDG" "superfamily_UDNA_glycsylseSF,HMMPfam_UDG" - no_errors TDG 6996 genome.wustl.edu 36 12 102903529 102903529 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102903529 102903529 C T SNP TDG NM_003211 human genbank 54_36p 1 reviewed missense c.983 p.A328V 1 NULL "HMMPfam_UDG,superfamily_UDNA_glycsylseSF" - no_errors HCFC2 29915 genome.wustl.edu 36 12 103011382 103011382 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 103011382 103011382 C T SNP HCFC2 NM_013320 human genbank 54_36p 1 reviewed missense c.1373 p.T458M 0 "HMMSmart_SM00060,superfamily_Fibronectin type III" "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors SLC41A2 84102 genome.wustl.edu 36 12 103845916 103845916 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 103845916 103845916 T C SNP SLC41A2 NM_032148 human genbank 54_36p -1 validated missense c.271 p.T91A 1 NULL HMMPfam_MgtE - no_errors KLRC3 3823 genome.wustl.edu 36 12 10462249 10462249 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10462249 10462249 G A SNP KLRC3 NM_007333 human genbank 54_36p -1 reviewed silent c.447 p.N149 0.01 "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" - no_errors KLRC3 3823 genome.wustl.edu 36 12 10464245 10464245 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10464245 10464245 T C SNP KLRC3 NM_007333 human genbank 54_36p -1 reviewed missense c.172 p.I58V 0 NULL "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" - no_errors NUAK1 9891 genome.wustl.edu 36 12 104985028 104985028 + Silent SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 104985028 104985028 G C SNP NUAK1 NM_014840 human genbank 54_36p -1 validated silent c.1668 p.V556 0.05 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TCP11L2 255394 genome.wustl.edu 36 12 105239497 105239497 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 105239497 105239497 T C SNP TCP11L2 NM_152772 human genbank 54_36p 1 provisional missense c.518 p.V173A 0.97 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors POLR3B 55703 genome.wustl.edu 36 12 105281792 105281792 + Silent SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 105281792 105281792 G T SNP POLR3B NM_018082 human genbank 54_36p 1 provisional silent c.87 p.L29 1 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase ############################################################################################################################################################################################################################################################### - no_errors RIC8B 55188 genome.wustl.edu 36 12 105732884 105732884 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 105732884 105732884 T G SNP RIC8B NM_018157 human genbank 54_36p 1 validated missense c.413 p.L138R 1 "superfamily_ARM-type_fold,HMMPfam_Ric8" "superfamily_ARM-type_fold,HMMPfam_Ric8" - no_errors TMEM119 338773 genome.wustl.edu 36 12 107509713 107509713 + Silent SNP G A A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107509713 107509713 G A SNP TMEM119 NM_181724 human genbank 54_36p -1 validated silent c.576 p.G192 0.01 NULL NULL - no_errors SSH1 54434 genome.wustl.edu 36 12 107717052 107717052 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107717052 107717052 G A SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.1202 p.A401V 0.98 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" "superfamily_DEK C-terminal domain,HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" - no_errors SSH1 54434 genome.wustl.edu 36 12 107723085 107723085 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107723085 107723085 C T SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.830 p.R277H 1 "HMMPfam_DEK_C,superfamily_DEK C-terminal domain" "HMMPfam_DSPc,HMMPfam_DEK_C,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_DEK C-terminal domain,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors SSH1 54434 genome.wustl.edu 36 12 107770579 107770579 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107770579 107770579 T C SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.74 p.E25G 1 NULL "HMMPfam_DSPc,HMMPfam_DEK_C,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_DEK C-terminal domain,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors DAO 1610 genome.wustl.edu 36 12 107805409 107805409 + Silent SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107805409 107805409 C T SNP DAO NM_001917 human genbank 54_36p 1 reviewed silent c.249 p.N83 0.65 "superfamily_Nucleotide-binding domain,HMMPfam_DAO" "superfamily_Nucleotide-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain,PatternScan_AA_TRNA_LIGASE_I,PatternScan_DAO" - no_errors ACACB 32 genome.wustl.edu 36 12 108138838 108138838 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108138838 108138838 C G SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.3383 p.T1128R 0.39 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors ACACB 32 genome.wustl.edu 36 12 108144727 108144727 + Silent SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108144727 108144727 G A SNP ACACB NM_001093 human genbank 54_36p 1 reviewed silent c.3597 p.S1199 0.29 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors ACACB 32 genome.wustl.edu 36 12 108145067 108145067 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108145067 108145067 G T SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.3759 p.M1253I 1 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors MYO1H 283446 genome.wustl.edu 36 12 108361889 108361889 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108361889 108361889 C T SNP MYO1H NM_001101421 human genbank 54_36p 1 inferred missense c.2347 p.R783W 0.98 NULL "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1" - no_errors TAS2R8 50836 genome.wustl.edu 36 12 10850410 10850410 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10850410 10850410 A T SNP TAS2R8 NM_023918 human genbank 54_36p -1 reviewed missense c.437 p.L146H 0.01 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors TAS2R9 50835 genome.wustl.edu 36 12 10853316 10853316 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 10853316 10853316 G T SNP TAS2R9 NM_023917 human genbank 54_36p -1 reviewed missense c.626 p.T209N 0.18 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors IFT81 28981 genome.wustl.edu 36 12 109065708 109065708 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 109065708 109065708 C G SNP IFT81 NM_014055 human genbank 54_36p 1 validated missense c.920 p.S307C 1 NULL NULL - no_errors ATP2A2 488 genome.wustl.edu 36 12 109204980 109204980 + Silent SNP T C C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 109204980 109204980 T C SNP ATP2A2 NM_170665 human genbank 54_36p 1 reviewed silent c.216 p.S72 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N" ############################################################################################################################################################################################################################################################### - no_errors ARPC3 10094 genome.wustl.edu 36 12 109362576 109362576 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 109362576 109362576 G T SNP ARPC3 NM_005719 human genbank 54_36p -1 reviewed missense c.107 p.T36K 1 "HMMPfam_P21-Arc,superfamily_Arp2/3 complex 21 kDa subunit ARPC3" "HMMPfam_P21-Arc,superfamily_Arp2/3 complex 21 kDa subunit ARPC3" - no_errors CCDC63 160762 genome.wustl.edu 36 12 109780780 109780780 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 109780780 109780780 A C SNP CCDC63 NM_152591 human genbank 54_36p 1 provisional missense c.187 p.I63L 0.27 NULL NULL - no_errors CUX2 23316 genome.wustl.edu 36 12 110230518 110230518 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110230518 110230518 C G SNP CUX2 NM_015267 human genbank 54_36p 1 validated missense c.1156 p.Q386E 1 NULL "HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors CUX2 23316 genome.wustl.edu 36 12 110269778 110269778 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110269778 110269778 G C SNP CUX2 NM_015267 human genbank 54_36p 1 validated missense c.3727 p.G1243R 0.93 superfamily_Homeodomain-like "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors TAS2R50 259296 genome.wustl.edu 36 12 11030719 11030719 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 11030719 11030719 G C SNP TAS2R50 NM_176890 human genbank 54_36p -1 validated missense c.8 p.T3S 0 "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" - no_errors SH2B3 10019 genome.wustl.edu 36 12 110369574 110369574 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110369574 110369574 C G SNP SH2B3 NM_005475 human genbank 54_36p 1 validated missense c.1079 p.S360C 1 superfamily_SH2 domain "HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors ACAD10 80724 genome.wustl.edu 36 12 110671532 110671532 + Silent SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110671532 110671532 C T SNP ACAD10 NM_025247 human genbank 54_36p 1 reviewed silent c.2817 p.R939 0.51 "HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like" ############################################################################################################################################################################################################################################################### - no_errors ALDH2 217 genome.wustl.edu 36 12 110712635 110712635 + Silent SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110712635 110712635 C G SNP ALDH2 NM_000690 human genbank 54_36p 1 reviewed silent c.567 p.L189 0.99 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors TMEM116 89894 genome.wustl.edu 36 12 110856111 110856111 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110856111 110856111 C G SNP TMEM116 NM_138341 human genbank 54_36p -1 provisional missense c.419 p.R140P 0.06 NULL NULL - no_errors NAA25 80018 genome.wustl.edu 36 12 111000884 111000884 + Silent SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111000884 111000884 C T SNP C12orf30 NM_024953 human genbank 54_36p -1 validated silent c.522 p.L174 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_NatB_MDM20" - no_errors C12orf51 283450 genome.wustl.edu 36 12 111094866 111094866 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111094866 111094866 C T SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated missense c.10511 p.C3504Y 1 NULL "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors TAS2R43 259289 genome.wustl.edu 36 12 11135240 11135240 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 11135240 11135240 G C SNP TAS2R43 NM_176884 human genbank 54_36p -1 provisional missense c.856 p.L286V 0.01 "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" - no_errors RPH3A 22895 genome.wustl.edu 36 12 111805509 111805509 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111805509 111805509 G A SNP RPH3A NM_014954 human genbank 54_36p 1 validated missense c.1343 p.R448Q 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors OAS1 4938 genome.wustl.edu 36 12 111833292 111833292 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111833292 111833292 G A SNP OAS1 NM_001032409 human genbank 54_36p 1 reviewed missense c.523 p.E175K 0 "superfamily_Nucleotidyltransferase,HMMPfam_OAS1_C" "superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2" - no_errors DTX1 1840 genome.wustl.edu 36 12 112019056 112019056 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 112019056 112019056 G A SNP DTX1 NM_004416 human genbank 54_36p 1 reviewed missense c.1792 p.A598T 1 NULL "PatternScan_ZF_RING_1,HMMPfam_WWE,HMMSmart_WWE,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors TBX5 6910 genome.wustl.edu 36 12 113278030 113278030 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 113278030 113278030 T A SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.1247 p.Q416L 1 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors FBXW8 26259 genome.wustl.edu 36 12 115850266 115850266 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 115850266 115850266 T C SNP FBXW8 NM_153348 human genbank 54_36p 1 reviewed missense c.374 p.I125T 1 "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors NOS1 4842 genome.wustl.edu 36 12 116178198 116178198 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 116178198 116178198 G T SNP NOS1 ENST00000338101 human ensembl 54_36p -1 known silent c.2559 p.P853 1 "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1" ############################################################################################################################################################################################################################################################### - no_errors SRRM4 84530 genome.wustl.edu 36 12 118076550 118076550 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118076550 118076550 T G SNP KIAA1853 NM_194286 human genbank 54_36p 1 validated missense c.1511 p.L504R 1 NULL NULL - no_errors CCDC60 160777 genome.wustl.edu 36 12 118401332 118401332 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118401332 118401332 G A SNP CCDC60 NM_178499 human genbank 54_36p 1 validated missense c.392 p.R131H 0.18 NULL NULL - no_errors CCDC60 160777 genome.wustl.edu 36 12 118422311 118422311 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118422311 118422311 C A SNP CCDC60 NM_178499 human genbank 54_36p 1 validated missense c.603 p.D201E 1 NULL NULL - no_errors CIT 11113 genome.wustl.edu 36 12 118693045 118693045 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118693045 118693045 C T SNP CIT ENST00000392521 human ensembl 54_36p -1 known missense c.2135 p.R712H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CIT 11113 genome.wustl.edu 36 12 118695044 118695044 + Silent SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118695044 118695044 T C SNP CIT NM_007174 human genbank 54_36p -1 validated silent c.1995 p.A665 0.91 NULL ############################################################################################################################################################################################################################################################### - no_errors CCDC64 92558 genome.wustl.edu 36 12 119003073 119003073 + Splice_Site SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 119003073 119003073 G C SNP CCDC64 NM_207311 human genbank 54_36p 1 validated splice_site c.1309-1 e7-1 1 - - - no_errors GCN1L1 10985 genome.wustl.edu 36 12 119080063 119080063 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 119080063 119080063 G A SNP GCN1L1 NM_006836 human genbank 54_36p -1 validated silent c.3060 p.P1020 0 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors RNF10 9921 genome.wustl.edu 36 12 119479604 119479604 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 119479604 119479604 G A SNP RNF10 NM_014868 human genbank 54_36p 1 reviewed missense c.782 p.S261N 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors ANAPC5 51433 genome.wustl.edu 36 12 120242632 120242633 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 120242632 120242633 GC AT DNP ANAPC5 NM_016237 human genbank 54_36p -1 reviewed missense c.1454_1453 p.A485I 1.000:0.998 "superfamily_TPR-like,HMMSmart_SM00028" "superfamily_TPR-like,HMMSmart_SM00028" - no_errors KDM2B 84678 genome.wustl.edu 36 12 120362202 120362202 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 120362202 120362202 C A SNP FBXL10 NM_032590 human genbank 54_36p -1 reviewed missense c.3670 p.D1224Y 1 "superfamily_RNI-like,HMMSmart_SM00367" "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367" - no_errors RHOF 54509 genome.wustl.edu 36 12 120701841 120701841 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 120701841 120701841 G C SNP RHOF NM_019034 human genbank 54_36p -1 validated missense c.582 p.S194R 0.94 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors MLXIP 22877 genome.wustl.edu 36 12 121180101 121180101 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121180101 121180101 A G SNP MLXIP ENST00000319080 human ensembl 54_36p 1 known missense c.709 p.K237E 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors MLXIP 22877 genome.wustl.edu 36 12 121189425 121189425 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121189425 121189425 G T SNP MLXIP NM_014938 human genbank 54_36p 1 validated nonsense c.2095 p.G699* 1 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CLIP1 6249 genome.wustl.edu 36 12 121387219 121387219 + Silent SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121387219 121387219 C A SNP CLIP1 NM_002956 human genbank 54_36p -1 validated silent c.2448 p.G816 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors ZCCHC8 55596 genome.wustl.edu 36 12 121532444 121532444 + Splice_Site SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121532444 121532444 C G SNP ZCCHC8 NM_017612 human genbank 54_36p -1 validated splice_site c.875+1 e9+1 1 - - - no_errors KNTC1 9735 genome.wustl.edu 36 12 121618772 121618772 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121618772 121618772 G T SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed missense c.1616 p.W539L 1 NULL "HMMPfam_Rod_C,PatternScan_BZIP_BASIC" - no_errors ERC1 23085 genome.wustl.edu 36 12 1216323 1216323 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1216323 1216323 C T SNP ERC1 NM_178040 human genbank 54_36p 1 reviewed nonsense c.2479 p.Q827* 1 HMMPfam_Cast "HMMPfam_Cast,superfamily_Prefoldin,HMMPfam_RBD-FIP" - no_errors LRP6 4040 genome.wustl.edu 36 12 12165331 12165331 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 12165331 12165331 G T SNP LRP6 NM_002336 human genbank 54_36p -1 validated missense c.4838 p.S1613Y 1 NULL "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors GPR81 27198 genome.wustl.edu 36 12 121780477 121780477 + Silent SNP G A A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121780477 121780477 G A SNP GPR81 NM_032554 human genbank 54_36p -1 validated silent c.363 p.H121 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CCDC62 84660 genome.wustl.edu 36 12 121856670 121856670 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 121856670 121856670 G A SNP CCDC62 NM_201435 human genbank 54_36p 1 validated missense c.1726 p.D576N 0 NULL NULL - no_errors PITPNM2 57605 genome.wustl.edu 36 12 122037918 122037918 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 122037918 122037918 C T SNP PITPNM2 NM_020845 human genbank 54_36p -1 validated silent c.3276 p.T1092 0.01 NULL "HMMPfam_IP_trans,superfamily_Bet v1-like,HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors DNAH10 196385 genome.wustl.edu 36 12 122838342 122838342 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 122838342 122838342 C A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated missense c.731 p.A244D 1 HMMPfam_DHC_N1 HMMPfam_DHC_N1 - no_errors DNAH10 196385 genome.wustl.edu 36 12 122855451 122855451 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 122855451 122855451 C A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated missense c.1998 p.H666Q 0.98 NULL HMMPfam_DHC_N1 - no_errors DNAH10 196385 genome.wustl.edu 36 12 122863771 122863771 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 122863771 122863771 T A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated silent c.2352 p.P784 0.99 NULL HMMPfam_DHC_N1 - no_errors UBC 7316 genome.wustl.edu 36 12 123964117 123964117 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 123964117 123964117 C T SNP UBC NM_021009 human genbank 54_36p -1 validated missense c.154 p.D52N 1 "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" - no_errors BRI3BP 140707 genome.wustl.edu 36 12 124063063 124063063 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124063063 124063063 C A SNP BRI3BP NM_080626 human genbank 54_36p 1 validated missense c.244 p.L82M 0.75 NULL NULL - no_errors AACS 65985 genome.wustl.edu 36 12 124175451 124175451 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124175451 124175451 C T SNP AACS NM_023928 human genbank 54_36p 1 validated missense c.1237 p.P413S 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124634364 124634364 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124634364 124634364 G T SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional missense c.1293 p.L431F 1 NULL NULL - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124701392 124701392 + Silent SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124701392 124701392 C T SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional silent c.1839 p.I613 0.39 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128124816 128124816 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128124816 128124816 C A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated nonsense c.2857 p.E953* 0.92 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128132509 128132509 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128132509 128132509 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.1671 p.E557 0.99 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128750475 128750475 + Silent SNP G A A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128750475 128750475 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.801 p.I267 0.99 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128750620 128750620 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128750620 128750620 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.656 p.P219L 0 NULL NULL - no_errors GPR133 283383 genome.wustl.edu 36 12 130016964 130016964 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130016964 130016964 T A SNP GPR133 NM_198827 human genbank 54_36p 1 validated missense c.107 p.F36Y 1 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR133 283383 genome.wustl.edu 36 12 130053283 130053283 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130053283 130053283 C T SNP GPR133 ENST00000376682 human ensembl 54_36p 1 known missense c.32 p.P11L 0 NULL "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR133 283383 genome.wustl.edu 36 12 130054769 130054769 + Silent SNP C A A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130054769 130054769 C A SNP GPR133 NM_198827 human genbank 54_36p 1 validated silent c.1230 p.I410 0.01 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors SFSWAP 6433 genome.wustl.edu 36 12 130849938 130849938 + Silent SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130849938 130849938 C T SNP SFRS8 NM_004592 human genbank 54_36p 1 reviewed silent c.2808 p.V936 0.97 NULL "HMMPfam_DRY_EERY,superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp" - no_errors POLE 5426 genome.wustl.edu 36 12 131711577 131711577 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 131711577 131711577 G T SNP POLE NM_006231 human genbank 54_36p -1 validated missense c.6734 p.T2245N 1 NULL "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,HMMPfam_DNA_pol_B,superfamily_SSF56672,HMMPfam_DUF1744" - no_errors GOLGA3 2802 genome.wustl.edu 36 12 131883237 131883237 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 131883237 131883237 C G SNP GOLGA3 NM_005895 human genbank 54_36p -1 reviewed missense c.2061 p.M687I 1 NULL "superfamily_Spectrin repeat,superfamily_Prefoldin" - no_errors GRIN2B 2904 genome.wustl.edu 36 12 13659413 13659413 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 13659413 13659413 C T SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.1556 p.R519Q 1 "superfamily_SSF53850,HMMSmart_PBPe" "superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C" - no_errors ERC1 23085 genome.wustl.edu 36 12 1424012 1424012 + Silent SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1424012 1424012 T G SNP ERC1 NM_178040 human genbank 54_36p 1 reviewed silent c.3048 p.L1016 1 NULL "superfamily_Prefoldin,HMMPfam_RBD-FIP,HMMPfam_Cast" - no_errors HIST4H4 121504 genome.wustl.edu 36 12 14815167 14815167 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 14815167 14815167 C T SNP HIST4H4 NM_175054 human genbank 54_36p -1 reviewed missense c.119 p.R40Q 1 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors WBP11 51729 genome.wustl.edu 36 12 14838057 14838057 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 14838057 14838057 T C SNP WBP11 NM_016312 human genbank 54_36p -1 reviewed missense c.788 p.D263G 1 NULL HMMPfam_Wbp11 - no_errors MGP 4256 genome.wustl.edu 36 12 14926380 14926380 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 14926380 14926380 G A SNP MGP NM_000900 human genbank 54_36p -1 validated missense c.272 p.A91V 1 "HMMSmart_GLA,HMMPfam_Gla,superfamily_VitK_dep_GLA,PatternScan_GLA_1" "HMMSmart_GLA,HMMPfam_Gla,superfamily_VitK_dep_GLA,PatternScan_GLA_1" - no_errors PTPRO 5800 genome.wustl.edu 36 12 15545856 15545856 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 15545856 15545856 G A SNP PTPRO NM_030667 human genbank 54_36p 1 reviewed missense c.697 p.V233I 0.98 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRO 5800 genome.wustl.edu 36 12 15552818 15552818 + Silent SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 15552818 15552818 C T SNP PTPRO NM_030667 human genbank 54_36p 1 reviewed silent c.1314 p.H438 0.97 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors FBXL14 144699 genome.wustl.edu 36 12 1572492 1572492 + Silent SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1572492 1572492 C T SNP FBXL14 NM_152441 human genbank 54_36p -1 validated silent c.1002 p.T334 1 superfamily_SSF52047 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047" - no_errors EPS8 2059 genome.wustl.edu 36 12 15727127 15727127 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 15727127 15727127 G T SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.26 p.P9H 1 NULL "HMMSmart_PTB,superfamily_SSF50729,HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors SUPT16HP 400011 genome.wustl.edu 36 12 16444344 16444344 + RNA SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 16444344 16444344 G A SNP LOC400011 XR_016968 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene SLC6A12 6539 genome.wustl.edu 36 12 184122 184122 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 184122 184122 G T SNP SLC6A12 NM_003044 human genbank 54_36p -1 validated missense c.218 p.A73D 1 PatternScan_NA_NEUROTRAN_SYMP_1 "PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors CACNA2D4 93589 genome.wustl.edu 36 12 1866479 1866479 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1866479 1866479 C A SNP CACNA2D4 NM_172364 human genbank 54_36p -1 reviewed missense c.799 p.D267Y 1 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1" - no_errors PLCZ1 89869 genome.wustl.edu 36 12 18727493 18727493 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 18727493 18727493 C A SNP PLCZ1 NM_033123 human genbank 54_36p -1 provisional missense c.1774 p.G592C 0.1 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors LOC643668 643668 genome.wustl.edu 36 12 18737273 18737273 + RNA SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 18737273 18737273 G C SNP LOC643668 XR_016986 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC643668 643668 genome.wustl.edu 36 12 18738165 18738165 + RNA SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 18738165 18738165 G A SNP LOC643668 XR_016986 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene PLEKHA5 54477 genome.wustl.edu 36 12 19410169 19410169 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 19410169 19410169 C G SNP PLEKHA5 NM_019012 human genbank 54_36p 1 validated missense c.3115 p.Q1039E 0.11 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PLEKHA5 54477 genome.wustl.edu 36 12 19414000 19414000 + Splice_Site SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 19414000 19414000 G C SNP PLEKHA5 NM_019012 human genbank 54_36p 1 validated splice_site c.3351+1 e25+1 1 - - - no_errors PDE3A 5139 genome.wustl.edu 36 12 20694658 20694658 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20694658 20694658 G T SNP PDE3A NM_000921 human genbank 54_36p 1 validated missense c.2782 p.V928F 0.07 "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I" "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20777247 20777247 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20777247 20777247 C G SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1324 p.L442V 0.78 "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP" "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20781364 20781364 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20781364 20781364 G A SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1439 p.C480Y 1 "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20781415 20781416 + Missense_Mutation DNP CA CA AG novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 CA CA CA AG CA CA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20781415 20781416 CA AG DNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1490_1491 p.T497K 0.999:0.845 "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2094813 2094813 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2094813 2094813 C A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.212 p.A71E 0.96 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21185846 21185846 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21185846 21185846 G T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.71 p.C24F 0.63 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21221096 21221096 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 21221096 21221096 A T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.479 p.K160I 0.63 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21250089 21250089 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21250089 21250089 A T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.1352 p.H451L 0.01 "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" "HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" - no_errors SLCO1A2 6579 genome.wustl.edu 36 12 21344736 21344736 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21344736 21344736 C T SNP SLCO1A2 NM_021094 human genbank 54_36p -1 reviewed nonsense c.723 p.W241* 1 "superfamily_MFS general substrate transporter,HMMPfam_OATP" "superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SLCO1A2 6579 genome.wustl.edu 36 12 21363579 21363579 + Silent SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21363579 21363579 C T SNP SLCO1A2 ENST00000390670 human ensembl 54_36p -1 known silent c.48 p.S16 0 superfamily_MFS_gen_substrate_transporter "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors PYROXD1 79912 genome.wustl.edu 36 12 21507026 21507026 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21507026 21507026 G C SNP PYROXD1 NM_024854 human genbank 54_36p 1 validated missense c.1079 p.C360S 1 "HMMPfam_Pyr_redox_2,superfamily_SSF51905" "HMMPfam_Pyr_redox_2,superfamily_SSF51905" - no_errors LDHB 3945 genome.wustl.edu 36 12 21688176 21688176 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21688176 21688176 C G SNP LDHB NM_002300 human genbank 54_36p -1 validated missense c.381 p.K127N 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C,PatternScan_L_LDH" - no_errors KCNJ8 3764 genome.wustl.edu 36 12 21810804 21810804 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 21810804 21810804 A G SNP KCNJ8 NM_004982 human genbank 54_36p -1 reviewed missense c.395 p.L132P 1 "HMMPfam_IRK,superfamily_SSF81324" "HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set" - no_errors ABCC9 10060 genome.wustl.edu 36 12 21845258 21845258 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21845258 21845258 C T SNP ABCC9 NM_020297 human genbank 54_36p -1 reviewed missense c.4637 p.R1546H 1 superfamily_SSF52540 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors CMAS 55907 genome.wustl.edu 36 12 22105655 22105655 + Splice_Site SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 22105655 22105655 T G SNP CMAS NM_018686 human genbank 54_36p 1 reviewed splice_site c.960+2 e6+2 1 - - - no_errors KIAA0528 9847 genome.wustl.edu 36 12 22513988 22513988 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 22513988 22513988 C G SNP KIAA0528 NM_014802 human genbank 54_36p -1 predicted missense c.2455 p.D819H 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors SOX5 6660 genome.wustl.edu 36 12 23578429 23578429 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 23578429 23578429 T A SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.2283 p.Q761H 1 NULL "PatternScan_TONB_DEPENDENT_REC_1,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors SOX5 6660 genome.wustl.edu 36 12 23785168 23785168 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 23785168 23785168 T A SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.641 p.E214V 1 NULL "HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2483928 2483928 + Silent SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2483928 2483928 C A SNP CACNA1C ENST00000399634 human ensembl 54_36p 1 known silent c.1179 p.S393 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors KRAS 3845 genome.wustl.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors IFLTD1 160492 genome.wustl.edu 36 12 25570406 25570406 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 25570406 25570406 G A SNP IFLTD1 NM_152590 human genbank 54_36p -1 validated missense c.629 p.A210V 0.4 "superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" "superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26455589 26455589 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 26455589 26455589 T A SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.7330 p.T2444S 0.6 HMMPfam_Ion_trans "HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26463359 26463359 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26463359 26463359 T G SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.7000 p.T2334P 1 HMMPfam_Ion_trans "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2658874 2658874 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2658874 2658874 G T SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.5095 p.A1699S 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2659073 2659073 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2659073 2659073 C A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.5294 p.A1765D 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26646683 26646683 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26646683 26646683 G T SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.3565 p.L1189I 1 HMMPfam_RYDR_ITPR "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26876940 26876940 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26876940 26876940 G C SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.42 p.I14M 1 HMMPfam_Ins145_P3_rec "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors C12orf11 55726 genome.wustl.edu 36 12 26980898 26980898 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26980898 26980898 T C SNP C12orf11 NM_018164 human genbank 54_36p -1 validated missense c.106 p.N36D 1 HMMPfam_DUF2151 HMMPfam_DUF2151 - no_errors STK38L 23012 genome.wustl.edu 36 12 27353314 27353314 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 27353314 27353314 G C SNP STK38L NM_015000 human genbank 54_36p 1 validated missense c.310 p.V104L 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors ARNTL2 56938 genome.wustl.edu 36 12 27444781 27444781 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 27444781 27444781 T C SNP ARNTL2 NM_020183 human genbank 54_36p 1 provisional missense c.967 p.W323R 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3" - no_errors REP15 387849 genome.wustl.edu 36 12 27740817 27740817 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 27740817 27740817 G A SNP REP15 NM_001029874 human genbank 54_36p 1 provisional missense c.55 p.V19I 0 NULL NULL - no_errors OVCH1 341350 genome.wustl.edu 36 12 29483541 29483541 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 29483541 29483541 C A SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.3251 p.W1084L 0 NULL "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors OVCH1 341350 genome.wustl.edu 36 12 29488472 29488472 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 29488472 29488472 C T SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.2890 p.D964N 0.01 NULL "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors OVCH1 341350 genome.wustl.edu 36 12 29539634 29539634 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 29539634 29539634 A G SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.305 p.V102A 0.58 "HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases" "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TSPAN9 10867 genome.wustl.edu 36 12 3257869 3257869 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3257869 3257869 G T SNP TSPAN9 NM_006675 human genbank 54_36p 1 reviewed nonsense c.85 p.G29* 1 HMMPfam_Tetraspannin "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors FGD4 121512 genome.wustl.edu 36 12 32626657 32626657 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 32626657 32626657 C T SNP FGD4 NM_139241 human genbank 54_36p 1 reviewed missense c.589 p.H197Y 0 superfamily_DBL homology domain (DH-domain) "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors DNM1L 10059 genome.wustl.edu 36 12 32775673 32775673 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 32775673 32775673 G T SNP DNM1L NM_012062 human genbank 54_36p 1 reviewed missense c.1317 p.M439I 1 HMMPfam_Dynamin_M "HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_SM00302" - no_errors SYT10 341359 genome.wustl.edu 36 12 33470699 33470699 + Splice_Site SNP T T C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 33470699 33470699 T C SNP SYT10 NM_198992 human genbank 54_36p -1 provisional splice_site c.152-2 e2-2 1 - - - no_errors PRMT8 56341 genome.wustl.edu 36 12 3556325 3556325 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3556325 3556325 T G SNP PRMT8 NM_019854 human genbank 54_36p 1 validated missense c.740 p.M247R 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_HSP70_2" - no_errors EFCAB4B 84766 genome.wustl.edu 36 12 3639045 3639045 + Silent SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3639045 3639045 G T SNP EFCAB4B NM_032680 human genbank 54_36p -1 validated silent c.708 p.L236 0.96 NULL "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors PARP11 57097 genome.wustl.edu 36 12 3791822 3791822 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3791822 3791822 T C SNP PARP11 NM_020367 human genbank 54_36p -1 validated missense c.724 p.K242E 1 "superfamily_ADP-ribosylation,HMMPfam_PARP" "HMMPfam_WWE,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors KIF21A 55605 genome.wustl.edu 36 12 37981704 37981704 + Silent SNP C C A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 37981704 37981704 C A SNP KIF21A NM_017641 human genbank 54_36p -1 validated silent c.4737 p.V1579 0.19 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors KIF21A 55605 genome.wustl.edu 36 12 37989745 37989745 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 37989745 37989745 C T SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.4148 p.C1383Y 0.95 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" "HMMSmart_SM00320,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_Prefoldin,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF21A 55605 genome.wustl.edu 36 12 38012445 38012445 + Silent SNP T T C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38012445 38012445 T C SNP KIF21A NM_017641 human genbank 54_36p -1 validated silent c.2850 p.K950 0.89 superfamily_WD40 repeat-like "HMMSmart_SM00320,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_Prefoldin,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors C12orf40 283461 genome.wustl.edu 36 12 38364950 38364950 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38364950 38364950 C T SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated missense c.1301 p.S434L 0.25 NULL NULL - no_errors SLC2A13 114134 genome.wustl.edu 36 12 38510252 38510252 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38510252 38510252 G T SNP SLC2A13 NM_052885 human genbank 54_36p -1 validated nonsense c.1308 p.Y436* 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors LRRK2 120892 genome.wustl.edu 36 12 38974960 38974960 + Missense_Mutation SNP T T C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38974960 38974960 T C SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.2855 p.I952T 0.66 superfamily_SSF52058 "superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2" - no_errors LRRK2 120892 genome.wustl.edu 36 12 38985923 38985923 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38985923 38985923 T A SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.3847 p.S1283T 1 "HMMPfam_LRR_1,superfamily_SSF52058" "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 genome.wustl.edu 36 12 39031692 39031692 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 39031692 39031692 G T SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.6466 p.V2156F 1 superfamily_WD40_like "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors CNTN1 1272 genome.wustl.edu 36 12 39705370 39705370 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 39705370 39705370 C A SNP CNTN1 NM_001843 human genbank 54_36p 1 reviewed missense c.2675 p.P892Q 1 "superfamily_Fibronectin type III,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors PDZRN4 29951 genome.wustl.edu 36 12 40252756 40252756 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 40252756 40252756 G T SNP PDZRN4 NM_013377 human genbank 54_36p 1 validated missense c.1134 p.K378N 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors PRICKLE1 144165 genome.wustl.edu 36 12 41144824 41144824 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 41144824 41144824 G C SNP PRICKLE1 NM_153026 human genbank 54_36p -1 validated missense c.1279 p.L427V 1 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42103950 42103950 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42103950 42103950 C G SNP ADAMTS20 ENST00000389417 human ensembl 54_36p -1 known missense c.4332 p.L1444F 0 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42107469 42107469 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42107469 42107469 G C SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.4016 p.A1339G 1 "superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42112378 42112378 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42112378 42112378 C T SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.3092 p.S1031N 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42132705 42132705 + Silent SNP A A G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42132705 42132705 A G SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated silent c.1821 p.T607 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42134112 42134112 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42134112 42134112 T G SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.1625 p.H542P 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors LOC401717 401717 genome.wustl.edu 36 12 42341041 42341041 + RNA SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42341041 42341041 C T SNP LOC401717 XR_016218 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene FGF23 8074 genome.wustl.edu 36 12 4349937 4349937 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 4349937 4349937 C T SNP FGF23 NM_020638 human genbank 54_36p -1 reviewed missense c.589 p.A197T 0.26 NULL "PatternScan_HBGF_FGF,superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF" - no_errors ARID2 196528 genome.wustl.edu 36 12 44519445 44519445 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44519445 44519445 A C SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.1397 p.K466T 1 NULL "HMMPfam_ARID,superfamily_ARID-like,HMMSmart_SM00501,superfamily_Winged helix DNA-binding domain,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARID2 196528 genome.wustl.edu 36 12 44530398 44530398 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44530398 44530398 C T SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.2225 p.S742F 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Winged helix DNA-binding domain" - no_errors ARID2 196528 genome.wustl.edu 36 12 44531669 44531669 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44531669 44531669 G C SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.3496 p.G1166R 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Winged helix DNA-binding domain" - no_errors SRSF2IP 9169 genome.wustl.edu 36 12 44607946 44607946 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44607946 44607946 G C SNP SFRS2IP NM_004719 human genbank 54_36p -1 validated missense c.1805 p.T602R 0.03 NULL "superfamily_RING/U-box,HMMSmart_SM00184,PatternScan_ZF_RING_1" - no_errors SLC38A1 81539 genome.wustl.edu 36 12 44881235 44881235 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44881235 44881235 T C SNP SLC38A1 NM_001077484 human genbank 54_36p -1 validated missense c.916 p.K306E 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors NDUFA9 4704 genome.wustl.edu 36 12 4633733 4633733 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 4633733 4633733 G T SNP NDUFA9 NM_005002 human genbank 54_36p 1 provisional missense c.64 p.A22S 0.07 NULL "superfamily_NAD(P)-bd,HMMPfam_Epimerase" - no_errors COL2A1 1280 genome.wustl.edu 36 12 46672951 46672951 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 46672951 46672951 G A SNP COL2A1 NM_001844 human genbank 54_36p -1 reviewed missense c.1000 p.R334W 1 HMMPfam_Collagen "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors OR10AD1 121275 genome.wustl.edu 36 12 46882923 46882923 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 46882923 46882923 C G SNP OR10AD1 NM_001004134 human genbank 54_36p -1 provisional missense c.420 p.K140N 0.63 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ANP32D 23519 genome.wustl.edu 36 12 47153049 47153051 + In_Frame_Del DEL TAG TAG - novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 TAG TAG TAG - TAG TAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47153049 47153051 TAG - DEL ANP32D NM_012404 human genbank 54_36p 1 reviewed in_frame_del c.335_337 p.LENLE112in_frame_del* 1.000:1.000:1.000 superfamily_SSF52075 superfamily_SSF52075 "(deletion:cds_exon[47152715,47153110])" no_errors C12orf41 54934 genome.wustl.edu 36 12 47351980 47351980 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47351980 47351980 G A SNP C12orf41 NM_017822 human genbank 54_36p -1 validated missense c.578 p.A193V 1 NULL NULL - no_errors CCNT1 904 genome.wustl.edu 36 12 47374183 47374183 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C - C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47374183 47374183 C - DEL CCNT1 NM_001240 human genbank 54_36p -1 reviewed frame_shift_del c.1081 p.D361fs 0.99 NULL "PatternScan_CYCLINS,superfamily_Cyclin_like,HMMPfam_Cyclin_N,HMMSmart_CYCLIN" "(deletion:cds_exon[47373083,47374486])" no_errors DDX23 9416 genome.wustl.edu 36 12 47513508 47513508 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47513508 47513508 C A SNP DDX23 NM_004818 human genbank 54_36p -1 reviewed missense c.1622 p.S541I 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors TROAP 10024 genome.wustl.edu 36 12 48010613 48010613 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48010613 48010613 A G SNP TROAP NM_005480 human genbank 54_36p 1 validated missense c.1718 p.E573G 0.02 NULL NULL - no_errors FAIM2 23017 genome.wustl.edu 36 12 48569235 48569235 + Silent SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48569235 48569235 G A SNP FAIM2 NM_012306 human genbank 54_36p -1 validated silent c.669 p.C223 1 HMMPfam_UPF0005 HMMPfam_UPF0005 - no_errors AQP2 100131403 genome.wustl.edu 36 12 48631219 48631219 + Missense_Mutation SNP C T T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48631219 48631219 C T SNP LOC100131403 XM_001718330 human genbank 54_36p -1 model missense c.511 p.A171T 0.86 NULL NULL - no_errors SMARCD1 6602 genome.wustl.edu 36 12 48778839 48778839 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48778839 48778839 G A SNP SMARCD1 NM_003076 human genbank 54_36p 1 reviewed missense c.1468 p.A490T 1 NULL "superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,HMMSmart_SM00151" - no_errors LIMA1 51474 genome.wustl.edu 36 12 48928777 48928777 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48928777 48928777 G A SNP LIMA1 NM_016357 human genbank 54_36p -1 validated missense c.25 p.R9W 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors LARP4 113251 genome.wustl.edu 36 12 49147018 49147018 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 49147018 49147018 C T SNP LARP4 NM_199188 human genbank 54_36p 1 validated missense c.1411 p.P471S 0.26 NULL "superfamily_SSF46785,HMMSmart_LA,HMMPfam_La,HMMSmart_RRM" - no_errors ATF1 466 genome.wustl.edu 36 12 49489522 49489522 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 49489522 49489522 T A SNP ATF1 NM_005171 human genbank 54_36p 1 validated missense c.211 p.L71I 1 HMMPfam_pKID "HMMPfam_pKID,HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC" - no_errors BIN2 51411 genome.wustl.edu 36 12 49982775 49982775 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 49982775 49982775 C T SNP BIN2 NM_016293 human genbank 54_36p -1 validated missense c.274 p.E92K 1 "HMMSmart_SM00721,HMMPfam_BAR" "HMMSmart_SM00721,HMMPfam_BAR" - no_errors KCNA5 3741 genome.wustl.edu 36 12 5024132 5024132 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5024132 5024132 G A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed silent c.558 p.R186 0.98 "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCNA5 3741 genome.wustl.edu 36 12 5024759 5024759 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5024759 5024759 C A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed silent c.1185 p.S395 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 genome.wustl.edu 36 12 50386588 50386588 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50386588 50386588 A G SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.1457 p.K486R 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_ODR_DC_2_1,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN8A 6334 genome.wustl.edu 36 12 50401778 50401778 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50401778 50401778 G A SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.1817 p.R606Q 1 NULL "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 genome.wustl.edu 36 12 50431564 50431564 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50431564 50431564 G A SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.2290 p.V764I 1 superfamily_Voltage-gated potassium channels "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors ANKRD33 341405 genome.wustl.edu 36 12 50570999 50570999 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 50570999 50570999 G A SNP ANKRD33 NM_182608 human genbank 54_36p 1 validated silent c.1002 p.S334 0 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors KRT86 3892 genome.wustl.edu 36 12 50985326 50985326 + Silent SNP C C A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50985326 50985326 C A SNP KRT86 NM_002284 human genbank 54_36p 1 reviewed silent c.771 p.T257 0.99 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6B 3854 genome.wustl.edu 36 12 51131903 51131903 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51131903 51131903 C G SNP KRT6B NM_005555 human genbank 54_36p -1 reviewed missense c.227 p.S76T 0.99 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6A 3853 genome.wustl.edu 36 12 51173148 51173148 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51173148 51173148 G C SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed missense c.92 p.S31C 0.15 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT71 112802 genome.wustl.edu 36 12 51228750 51228763 + Splice_Site DEL ACGGCTTCAAAGAG ACGGCTTCAAAGAG - novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 ACGGCTTCAAAGAG ACGGCTTCAAAGAG ACGGCTTCAAAGAG - ACGGCTTCAAAGAG ACGGCTTCAAAGAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51228750 51228763 ACGGCTTCAAAGAG - DEL KRT71 NM_033448 human genbank 54_36p -1 provisional splice_site_del c.813+13_813+1 e5-1 0.983:0.945:0.004:0.005:0.095:0.245:0.879:0.900:0.854:0.843:0.978:0.982:0.978:0.569 - - "(deletion:intron[51228368,51228751], cds_exon[51228752,51228847])" no_errors KRT74 121391 genome.wustl.edu 36 12 51248285 51248285 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51248285 51248285 G A SNP KRT74 NM_175053 human genbank 54_36p -1 validated silent c.1290 p.S430 0.84 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT72 140807 genome.wustl.edu 36 12 51267752 51267752 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51267752 51267752 C T SNP KRT72 NM_080747 human genbank 54_36p -1 provisional missense c.1240 p.V414M 0.97 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT73 319101 genome.wustl.edu 36 12 51293740 51293740 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51293740 51293740 T G SNP KRT73 NM_175068 human genbank 54_36p -1 provisional missense c.983 p.K328T 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT2 3849 genome.wustl.edu 36 12 51325292 51325292 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51325292 51325292 G A SNP KRT2 NM_000423 human genbank 54_36p -1 reviewed silent c.1698 p.G566 0.99 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT2 3849 genome.wustl.edu 36 12 51327830 51327830 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51327830 51327830 T C SNP KRT2 NM_000423 human genbank 54_36p -1 reviewed missense c.1199 p.N400S 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT1 3848 genome.wustl.edu 36 12 51358657 51358657 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51358657 51358657 C T SNP KRT1 NM_006121 human genbank 54_36p -1 reviewed missense c.742 p.D248N 0.52 HMMPfam_Filament "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors LOC400036 400036 genome.wustl.edu 36 12 51411523 51411523 + RNA SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51411523 51411523 G A SNP LOC400036 XR_042304 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene KRT4 3851 genome.wustl.edu 36 12 51487226 51487226 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51487226 51487226 C A SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed missense c.1679 p.S560I 0.95 NULL "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT79 338785 genome.wustl.edu 36 12 51504354 51504354 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51504354 51504354 G T SNP KRT79 NM_175834 human genbank 54_36p -1 validated missense c.915 p.N305K 1 "HMMPfam_Filament,superfamily_Prefoldin" "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors ATF7 11016 genome.wustl.edu 36 12 52217576 52217576 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 52217576 52217576 G C SNP ATF7 NM_006856 human genbank 54_36p -1 validated missense c.292 p.L98V 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ATPASE_ALPHA_BETA,HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC" - no_errors HOXC4 3221 genome.wustl.edu 36 12 52734193 52734193 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 52734193 52734193 G C SNP HOXC4 NM_014620 human genbank 54_36p 1 reviewed missense c.220 p.G74R 1 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HNRNPA1 3178 genome.wustl.edu 36 12 52961503 52961503 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 52961503 52961503 G A SNP HNRNPA1 NM_031157 human genbank 54_36p 1 reviewed missense c.82 p.E28K 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ITGA5 3678 genome.wustl.edu 36 12 53081716 53081716 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53081716 53081716 G C SNP ITGA5 NM_002205 human genbank 54_36p -1 reviewed missense c.2307 p.S769R 1 "HMMPfam_Integrin_alpha2,superfamily_SSF69179" "superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors NCKAP1L 3071 genome.wustl.edu 36 12 53216270 53216270 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53216270 53216270 C G SNP NCKAP1L NM_005337 human genbank 54_36p 1 reviewed missense c.3047 p.S1016C 0.34 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors KIAA0748 9840 genome.wustl.edu 36 12 53641242 53641242 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53641242 53641242 G T SNP KIAA0748 NM_001098815 human genbank 54_36p -1 validated missense c.1544 p.T515N 0 NULL NULL - no_errors NEUROD4 58158 genome.wustl.edu 36 12 53707449 53707449 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53707449 53707449 G T SNP NEUROD4 NM_021191 human genbank 54_36p 1 validated missense c.959 p.G320V 0.05 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors OR10A7 121364 genome.wustl.edu 36 12 53901770 53901770 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53901770 53901770 C T SNP OR10A7 NM_001005280 human genbank 54_36p 1 provisional missense c.695 p.T232I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10A7 121364 genome.wustl.edu 36 12 53901945 53901945 + Silent SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53901945 53901945 C T SNP OR10A7 NM_001005280 human genbank 54_36p 1 provisional silent c.870 p.Y290 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR6C75 390323 genome.wustl.edu 36 12 54045559 54045559 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54045559 54045559 T A SNP OR6C75 NM_001005497 human genbank 54_36p 1 provisional missense c.398 p.I133N 0.79 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ITGA7 3679 genome.wustl.edu 36 12 54373249 54373249 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54373249 54373249 G A SNP ITGA7 NM_002206 human genbank 54_36p -1 reviewed silent c.2655 p.G885 0.99 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors RDH5 5959 genome.wustl.edu 36 12 54404013 54404013 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54404013 54404013 G A SNP RDH5 NM_002905 human genbank 54_36p 1 reviewed missense c.646 p.E216K 1 superfamily_NAD(P)-bd "PatternScan_ADH_SHORT,superfamily_NAD(P)-bd,HMMPfam_adh_short" - no_errors DNAJC14 85406 genome.wustl.edu 36 12 54508469 54508469 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54508469 54508469 G A SNP DNAJC14 NM_032364 human genbank 54_36p -1 validated missense c.241 p.P81S 1 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ" - no_errors MMP19 4327 genome.wustl.edu 36 12 54517349 54517351 + In_Frame_Del DEL AAC AAC - novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 AAC AAC AAC - AAC AAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54517349 54517351 AAC - DEL MMP19 NM_002429 human genbank 54_36p -1 reviewed in_frame_del c.1265_1263 p.L421in_frame_del 1.000:1.000:0.983 "superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" "superfamily_PGBD-like,HMMPfam_PG_binding_1,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Metalloproteases (zincins) catalytic domain,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" "(deletion:cds_exon[54517087,54517425])" no_errors DGKA 1606 genome.wustl.edu 36 12 54620413 54620413 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54620413 54620413 G T SNP DGKA NM_001345 human genbank 54_36p 1 reviewed missense c.847 p.D283Y 1 "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors DGKA 1606 genome.wustl.edu 36 12 54620698 54620698 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54620698 54620698 G A SNP DGKA NM_001345 human genbank 54_36p 1 reviewed silent c.942 p.A314 0.21 "HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain" "HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMSmart_SM00054,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Cysteine-rich domain" - no_errors DGKA 1606 genome.wustl.edu 36 12 54633437 54633437 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54633437 54633437 A T SNP DGKA NM_001345 human genbank 54_36p 1 reviewed missense c.2100 p.E700D 1 "HMMPfam_DAGK_acc,HMMSmart_SM00045" "HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMSmart_SM00054,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Cysteine-rich domain" - no_errors IKZF4 64375 genome.wustl.edu 36 12 54703778 54703778 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54703778 54703778 C A SNP IKZF4 NM_022465 human genbank 54_36p 1 validated missense c.144 p.D48E 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors IKZF4 64375 genome.wustl.edu 36 12 54714800 54714800 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54714800 54714800 C G SNP IKZF4 NM_022465 human genbank 54_36p 1 validated missense c.1176 p.I392M 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ERBB3 2065 genome.wustl.edu 36 12 54773433 54773433 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54773433 54773433 G A SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed missense c.1312 p.V438I 0.82 "superfamily_L domain-like,HMMPfam_Recep_L_domain" "superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" - no_errors ERBB3 2065 genome.wustl.edu 36 12 54781659 54781659 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54781659 54781659 T A SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed missense c.3582 p.D1194E 1 NULL "HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),superfamily_L domain-like" - no_errors ESYT1 23344 genome.wustl.edu 36 12 54814394 54814394 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54814394 54814394 C G SNP FAM62A NM_015292 human genbank 54_36p 1 provisional missense c.1547 p.A516G 0.84 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors STAT2 6773 genome.wustl.edu 36 12 55031427 55031427 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55031427 55031427 A G SNP STAT2 NM_005419 human genbank 54_36p -1 reviewed missense c.857 p.V286A 0.04 "superfamily_STAT,HMMPfam_STAT_alpha" "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors TIMELESS 8914 genome.wustl.edu 36 12 55113600 55113600 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55113600 55113600 C G SNP TIMELESS NM_003920 human genbank 54_36p -1 validated missense c.355 p.A119P 1 HMMPfam_TIMELESS "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors GLS2 27165 genome.wustl.edu 36 12 55151826 55151826 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55151826 55151826 G T SNP GLS2 NM_013267 human genbank 54_36p -1 reviewed missense c.1650 p.D550E 1 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors BAZ2A 11176 genome.wustl.edu 36 12 55295117 55295117 + Silent SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55295117 55295117 T C SNP BAZ2A NM_013449 human genbank 54_36p -1 validated silent c.684 p.A228 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ATP5B 506 genome.wustl.edu 36 12 55325235 55325235 + Silent SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55325235 55325235 C G SNP ATP5B NM_001686 human genbank 54_36p -1 reviewed silent c.297 p.V99 1 "superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase,HMMPfam_ATP-synt_ab_N" ############################################################################################################################################################################################################################################################### - no_errors NACA 4666 genome.wustl.edu 36 12 55393239 55393239 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55393239 55393239 G C SNP NACA NM_005594 human genbank 54_36p -1 validated missense c.384 p.I128M 0.86 HMMPfam_NAC "HMMPfam_NAC,HMMPfam_UBA" - no_errors NAB2 4665 genome.wustl.edu 36 12 55771786 55771786 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55771786 55771786 G A SNP NAB2 NM_005967 human genbank 54_36p 1 reviewed missense c.695 p.G232D 1 HMMPfam_NCD2 "HMMPfam_NCD1,HMMPfam_NCD2" - no_errors LRP1 4035 genome.wustl.edu 36 12 55857547 55857547 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55857547 55857547 C T SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.4267 p.R1423C 0.62 "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b" ############################################################################################################################################################################################################################################################### - no_errors R3HDM2 22864 genome.wustl.edu 36 12 55938093 55938093 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55938093 55938093 A T SNP R3HDM2 NM_014925 human genbank 54_36p -1 validated missense c.1337 p.L446H 1 NULL NULL - no_errors GLI1 2735 genome.wustl.edu 36 12 56150686 56150686 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56150686 56150686 T A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.1896 p.N632K 0.78 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GLI1 2735 genome.wustl.edu 36 12 56150700 56150700 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56150700 56150700 G A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.1910 p.R637Q 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors MARS 4141 genome.wustl.edu 36 12 56194772 56194772 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56194772 56194772 C T SNP MARS NM_004990 human genbank 54_36p 1 reviewed missense c.1970 p.A657V 1 "HMMPfam_tRNA-synt_1g,superfamily_tRNAsyn_1a_bind" "superfamily_GST_C_like,HMMPfam_GST_C,superfamily_SSF52374,HMMPfam_tRNA-synt_1g,PatternScan_AA_TRNA_LIGASE_I,superfamily_SSF57770,superfamily_tRNAsyn_1a_bind,superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1" - no_errors OS9 10956 genome.wustl.edu 36 12 56398264 56398265 + Nonsense_Mutation DNP GA GA TT novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56398264 56398265 GA TT DNP OS9 NM_006812 human genbank 54_36p 1 reviewed nonsense c.1203_1204 p.EKE401D* 0.035:0.194 NULL "HMMPfam_PRKCSH,superfamily_Mannose 6-phosphate receptor domain" - no_errors OS9 10956 genome.wustl.edu 36 12 56400183 56400183 + Silent SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 56400183 56400183 C A SNP OS9 NM_006812 human genbank 54_36p 1 reviewed silent c.1635 p.V545 1 NULL "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_PRKCSH" - no_errors LRIG3 121227 genome.wustl.edu 36 12 57560777 57560777 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 57560777 57560777 G C SNP LRIG3 NM_153377 human genbank 54_36p -1 provisional missense c.1654 p.L552V 1 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_RNI-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors ANO2 57101 genome.wustl.edu 36 12 5786740 5786740 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5786740 5786740 G A SNP ANO2 NM_020373 human genbank 54_36p -1 validated silent c.939 p.D313 0.98 NULL HMMPfam_DUF590 - no_errors ANO2 57101 genome.wustl.edu 36 12 5833485 5833485 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5833485 5833485 T G SNP ANO2 NM_020373 human genbank 54_36p -1 validated missense c.606 p.K202N 1 NULL HMMPfam_DUF590 - no_errors VWF 7450 genome.wustl.edu 36 12 6037406 6037406 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6037406 6037406 G A SNP VWF NM_000552 human genbank 54_36p -1 reviewed silent c.1599 p.D533 1 "HMMSmart_SM00216,HMMPfam_VWD" ############################################################################################################################################################################################################################################################### - no_errors FAM19A2 338811 genome.wustl.edu 36 12 60435001 60435001 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 60435001 60435001 C G SNP FAM19A2 NM_178539 human genbank 54_36p -1 reviewed missense c.178 p.E60Q 1 NULL NULL - no_errors PPM1H 57460 genome.wustl.edu 36 12 61374034 61374034 + Silent SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 61374034 61374034 G A SNP PPM1H NM_020700 human genbank 54_36p -1 validated silent c.1086 p.T362 1 "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332" "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C" - no_errors SRGAP1 57522 genome.wustl.edu 36 12 62789063 62789063 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 62789063 62789063 A G SNP SRGAP1 NM_020762 human genbank 54_36p 1 validated missense c.1898 p.Y633C 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "HMMPfam_FCH,HMMSmart_SM00055,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors TBK1 29110 genome.wustl.edu 36 12 63175583 63175583 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 63175583 63175583 A T SNP TBK1 NM_013254 human genbank 54_36p 1 reviewed missense c.1575 p.R525S 0.94 NULL "HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" - no_errors WIF1 11197 genome.wustl.edu 36 12 63731445 63731445 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 63731445 63731445 T C SNP WIF1 NM_007191 human genbank 54_36p -1 reviewed missense c.1091 p.K364R 1 NULL "HMMSmart_WIF,HMMPfam_WIF,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF" - no_errors LOC729484 729484 genome.wustl.edu 36 12 64717396 64717396 + RNA SNP A A T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 64717396 64717396 A T SNP LOC729484 XR_016010 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene TMBIM4 51643 genome.wustl.edu 36 12 64832396 64832396 + Silent SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 64832396 64832396 G A SNP TMBIM4 NM_016056 human genbank 54_36p -1 validated silent c.234 p.L78 0.93 HMMPfam_UPF0005 HMMPfam_UPF0005 - no_errors GRIP1 23426 genome.wustl.edu 36 12 65143104 65143104 + Silent SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 65143104 65143104 G T SNP GRIP1 NM_021150 human genbank 54_36p -1 validated silent c.909 p.S303 1 "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors NOP2 4839 genome.wustl.edu 36 12 6545552 6545552 + Silent SNP A C C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6545552 6545552 A C SNP NOP2 NM_001033714 human genbank 54_36p -1 validated silent c.438 p.S146 0 NULL "superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN,HMMPfam_P120R" - no_errors CHD4 1108 genome.wustl.edu 36 12 6571444 6571444 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6571444 6571444 G A SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.2989 p.L997F 1 HMMPfam_SNF2_N ############################################################################################################################################################################################################################################################### - no_errors DYRK2 8445 genome.wustl.edu 36 12 66338143 66338143 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 66338143 66338143 G T SNP DYRK2 NM_006482 human genbank 54_36p 1 reviewed missense c.1189 p.A397S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MDM1 56890 genome.wustl.edu 36 12 67006998 67006998 + Silent SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 67006998 67006998 A C SNP MDM1 NM_017440 human genbank 54_36p -1 reviewed silent c.204 p.S68 1 NULL NULL - no_errors LOC387867 387867 genome.wustl.edu 36 12 67233142 67233142 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 67233142 67233142 G T SNP LOC387867 XM_001726521 human genbank 54_36p -1 model missense c.788 p.P263H 1 NULL "superfamily_Ribosomal protein S2,PatternScan_RIBOSOMAL_S2_1,HMMPfam_Ribosomal_S2,PatternScan_RIBOSOMAL_S2_2" - pseudogene RAB3IP 117177 genome.wustl.edu 36 12 68419907 68419907 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 68419907 68419907 A C SNP RAB3IP NM_175623 human genbank 54_36p 1 validated missense c.14 p.K5T 0 NULL HMMPfam_Sec2p - no_errors LRRC23 10233 genome.wustl.edu 36 12 6893455 6893455 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6893455 6893455 C T SNP LRRC23 NM_006992 human genbank 54_36p 1 validated missense c.898 p.P300S 0 NULL "superfamily_SSF52058,HMMPfam_LRR_1" - no_errors ATN1 1822 genome.wustl.edu 36 12 6918599 6918599 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6918599 6918599 C T SNP ATN1 NM_001007026 human genbank 54_36p 1 reviewed missense c.3212 p.A1071V 1 HMMPfam_Atrophin-1 HMMPfam_Atrophin-1 - no_errors LPCAT3 10162 genome.wustl.edu 36 12 6957772 6957772 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6957772 6957772 C G SNP LPCAT3 NM_005768 human genbank 54_36p -1 validated missense c.1032 p.W344C 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors LGR5 8549 genome.wustl.edu 36 12 70264197 70264197 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 70264197 70264197 C A SNP LGR5 NM_003667 human genbank 54_36p 1 provisional missense c.2140 p.P714T 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors ZFC3H1 196441 genome.wustl.edu 36 12 70322513 70322513 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 70322513 70322513 T C SNP ZFC3H1 NM_144982 human genbank 54_36p -1 validated missense c.1597 p.M533V 1 NULL "HMMPfam_zf-C3H1,superfamily_Protein prenylyltransferase,HMMSmart_SM00386" - no_errors THAP2 83591 genome.wustl.edu 36 12 70344567 70344567 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 70344567 70344567 A G SNP THAP2 NM_031435 human genbank 54_36p 1 provisional missense c.11 p.N4S 1 HMMPfam_THAP "HMMPfam_THAP,HMMSmart_SM00692" - no_errors ACSM4 341392 genome.wustl.edu 36 12 7348231 7348231 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7348231 7348231 A T SNP ACSM4 NM_001080454 human genbank 54_36p 1 inferred missense c.37 p.I13F 0.02 NULL "superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ACSM4 341392 genome.wustl.edu 36 12 7354409 7354409 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7354409 7354409 C T SNP ACSM4 NM_001080454 human genbank 54_36p 1 inferred silent c.420 p.I140 0.86 "HMMPfam_AMP-binding,superfamily_SSF56801" "HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801" - no_errors CAPS2 84698 genome.wustl.edu 36 12 73962383 73962383 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 73962383 73962383 T G SNP CAPS2 NM_032606 human genbank 54_36p -1 validated missense c.888 p.K296N 1 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh" - no_errors GLIPR1 11010 genome.wustl.edu 36 12 74170514 74170514 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 74170514 74170514 G T SNP GLIPR1 NM_006851 human genbank 54_36p 1 reviewed missense c.482 p.G161V 0.02 "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP" "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP,PatternScan_CRISP_1,PatternScan_CRISP_2" - no_errors KRR1 11103 genome.wustl.edu 36 12 74184022 74184022 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 74184022 74184022 G A SNP KRR1 NM_007043 human genbank 54_36p -1 validated missense c.760 p.R254C 1 NULL "HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1" - no_errors NAP1L1 4673 genome.wustl.edu 36 12 74733342 74733342 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 74733342 74733342 T G SNP NAP1L1 NM_004537 human genbank 54_36p -1 reviewed missense c.826 p.K276Q 1 HMMPfam_NAP HMMPfam_NAP - no_errors CD163L1 283316 genome.wustl.edu 36 12 7477386 7477386 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7477386 7477386 C T SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.296 p.R99H 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CD163 9332 genome.wustl.edu 36 12 7542786 7542786 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7542786 7542786 T A SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.723 p.Q241H 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CSRP2 1466 genome.wustl.edu 36 12 75776877 75776877 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 75776877 75776877 C A SNP CSRP2 NM_001321 human genbank 54_36p -1 reviewed missense c.568 p.V190F 1 superfamily_Glucocorticoid receptor-like (DNA-binding domain) "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors NAV3 89795 genome.wustl.edu 36 12 77040268 77040268 + Silent SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 77040268 77040268 G A SNP NAV3 NM_014903 human genbank 54_36p 1 validated silent c.4167 p.L1389 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors NAV3 89795 genome.wustl.edu 36 12 77106243 77106243 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 77106243 77106243 C T SNP NAV3 NM_014903 human genbank 54_36p 1 validated missense c.5809 p.R1937C 1 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMSmart_SM00382,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PPP1R12A 4659 genome.wustl.edu 36 12 78740067 78740067 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 78740067 78740067 A G SNP PPP1R12A NM_002480 human genbank 54_36p -1 reviewed missense c.827 p.I276T 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors MYF5 4617 genome.wustl.edu 36 12 79636345 79636345 + Splice_Site SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 79636345 79636345 T G SNP MYF5 NM_005593 human genbank 54_36p 1 validated splice_site c.577+2 e2+2 1 - - - no_errors SLC2A3 6515 genome.wustl.edu 36 12 7977757 7977757 + Silent SNP T T C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7977757 7977757 T C SNP SLC2A3 NM_006931 human genbank 54_36p -1 validated silent c.24 p.P8 0 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors PPFIA2 8499 genome.wustl.edu 36 12 80271202 80271202 + Silent SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 80271202 80271202 T A SNP PPFIA2 NM_003625 human genbank 54_36p -1 reviewed silent c.1821 p.G607 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors FOXJ2 55810 genome.wustl.edu 36 12 8091762 8091762 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 8091762 8091762 G A SNP FOXJ2 NM_018416 human genbank 54_36p 1 validated missense c.835 p.G279R 1 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors TMTC2 160335 genome.wustl.edu 36 12 81605516 81605516 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 81605516 81605516 G T SNP TMTC2 NM_152588 human genbank 54_36p 1 provisional missense c.20 p.S7I 1 NULL "HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 83991003 83991003 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 83991003 83991003 G C SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated missense c.2883 p.W961C 0.01 superfamily_RNI-like "superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 84042150 84042150 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 84042150 84042150 T C SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated silent c.3729 p.T1243 0 NULL "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RASSF9 9182 genome.wustl.edu 36 12 84723176 84723176 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 84723176 84723176 T A SNP RASSF9 NM_005447 human genbank 54_36p -1 reviewed missense c.743 p.D248V 0 NULL HMMSmart_SM00314 - no_errors MGAT4C 25834 genome.wustl.edu 36 12 84897722 84897722 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 84897722 84897722 T C SNP MGAT4C NM_013244 human genbank 54_36p -1 validated missense c.913 p.K305E 1 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors CLEC4D 338339 genome.wustl.edu 36 12 8564164 8564165 + Missense_Mutation DNP TG TG GT novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TG TG TG GT TG TG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 8564164 8564165 TG GT DNP CLEC4D NM_080387 human genbank 54_36p 1 reviewed missense c.460_461 p.W154V 0.853:0.839 "HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C" "PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C" - no_errors WNK1 65125 genome.wustl.edu 36 12 859035 859035 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 859035 859035 C A SNP WNK1 NM_018979 human genbank 54_36p 1 validated silent c.2409 p.G803 1 NULL "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors WNK1 65125 genome.wustl.edu 36 12 859235 859235 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 859235 859235 C T SNP WNK1 NM_018979 human genbank 54_36p 1 validated missense c.2609 p.T870I 0.99 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors WNK1 65125 genome.wustl.edu 36 12 864283 864283 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 864283 864283 C T SNP WNK1 NM_018979 human genbank 54_36p 1 validated missense c.4052 p.A1351V 0.07 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors CEP290 80184 genome.wustl.edu 36 12 86978787 86978787 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 86978787 86978787 A G SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.6473 p.L2158S 0.61 NULL NULL - no_errors CEP290 80184 genome.wustl.edu 36 12 86989297 86989297 + Silent SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 86989297 86989297 A G SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed silent c.5916 p.D1972 1 NULL NULL - no_errors CEP290 80184 genome.wustl.edu 36 12 87001786 87001786 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 87001786 87001786 C A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.4781 p.S1594I 1 NULL NULL - no_errors CEP290 80184 genome.wustl.edu 36 12 87029169 87029169 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 87029169 87029169 C A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.2308 p.A770S 0.99 NULL NULL - no_errors ATP2B1 490 genome.wustl.edu 36 12 88519315 88519315 + Silent SNP T T C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 88519315 88519315 T C SNP ATP2B1 NM_001682 human genbank 54_36p -1 reviewed silent c.3087 p.K1029 1 "superfamily_SSF81665,HMMPfam_Cation_ATPase_C" "HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C" - no_errors DCN 1634 genome.wustl.edu 36 12 90082549 90082549 + Silent SNP G G T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 90082549 90082549 G T SNP DCN NM_001920 human genbank 54_36p -1 reviewed silent c.288 p.I96 1 "superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00369" "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364" - no_errors MRPL42 28977 genome.wustl.edu 36 12 92405446 92405446 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 92405446 92405446 C G SNP MRPL42 NM_014050 human genbank 54_36p 1 reviewed missense c.262 p.H88D 1 HMMPfam_MRP-S32 HMMPfam_MRP-S32 - no_errors MRPL42 28977 genome.wustl.edu 36 12 92405485 92405485 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 92405485 92405485 G T SNP MRPL42 NM_014050 human genbank 54_36p 1 reviewed nonsense c.301 p.E101* 0 HMMPfam_MRP-S32 HMMPfam_MRP-S32 - no_errors PZP 5858 genome.wustl.edu 36 12 9246425 9246425 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 9246425 9246425 G A SNP PZP NM_002864 human genbank 54_36p -1 validated silent c.390 p.V130 1 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors PZP 5858 genome.wustl.edu 36 12 9246536 9246536 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 9246536 9246536 G C SNP PZP NM_002864 human genbank 54_36p -1 validated missense c.279 p.I93M 0 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors PZP 5858 genome.wustl.edu 36 12 9247632 9247632 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 9247632 9247632 G A SNP PZP NM_002864 human genbank 54_36p -1 validated missense c.266 p.T89I 1 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors CRADD 8738 genome.wustl.edu 36 12 92596747 92596747 + Silent SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 92596747 92596747 G T SNP CRADD NM_003805 human genbank 54_36p 1 reviewed silent c.66 p.V22 1 "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD" "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,HMMSmart_SM00005,HMMPfam_Death,PatternScan_IG_MHC" - no_errors PLXNC1 10154 genome.wustl.edu 36 12 93099437 93099437 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 93099437 93099437 G A SNP PLXNC1 NM_005761 human genbank 54_36p 1 provisional missense c.1288 p.V430I 0.52 superfamily_Sema "superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_TIG,HMMSmart_IPT,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors LOC400061 400061 genome.wustl.edu 36 12 93439105 93439105 + RNA SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 93439105 93439105 G A SNP LOC400061 XR_016608 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene NR2C1 7181 genome.wustl.edu 36 12 93969683 93969683 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 93969683 93969683 G A SNP NR2C1 NM_003297 human genbank 54_36p -1 reviewed silent c.951 p.N317 0.33 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,PatternScan_SUBTILASE_ASP,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors FGD6 55785 genome.wustl.edu 36 12 94002491 94002491 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94002491 94002491 C G SNP FGD6 NM_018351 human genbank 54_36p -1 validated missense c.4170 p.E1390D 0.99 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1" - no_errors VEZT 55591 genome.wustl.edu 36 12 94218234 94218234 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94218234 94218234 G C SNP VEZT NM_017599 human genbank 54_36p 1 validated missense c.1994 p.C665S 1 NULL NULL - no_errors HAL 3034 genome.wustl.edu 36 12 94894370 94894370 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94894370 94894370 C G SNP HAL NM_002108 human genbank 54_36p -1 reviewed missense c.1801 p.E601Q 1 superfamily_L-Aspartase-like "superfamily_L-Aspartase-like,HMMPfam_PAL,PatternScan_PAL_HISTIDASE" - no_errors HAL 3034 genome.wustl.edu 36 12 94894533 94894533 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94894533 94894533 G A SNP HAL NM_002108 human genbank 54_36p -1 reviewed silent c.1737 p.V579 1 "HMMPfam_PAL,superfamily_L-Aspartase-like" "HMMPfam_PAL,PatternScan_PAL_HISTIDASE,superfamily_L-Aspartase-like" - no_errors ELK3 2004 genome.wustl.edu 36 12 95164924 95164924 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 95164924 95164924 C G SNP ELK3 NM_005230 human genbank 54_36p 1 reviewed missense c.283 p.P95A 1 superfamily_Winged helix DNA-binding domain "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors SCYL2 55681 genome.wustl.edu 36 12 99232491 99232491 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99232491 99232491 G A SNP SCYL2 NM_017988 human genbank 54_36p 1 provisional missense c.1063 p.G355R 1 "superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_ARM repeat" - no_errors SLC17A8 246213 genome.wustl.edu 36 12 99308981 99308981 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99308981 99308981 G A SNP SLC17A8 NM_139319 human genbank 54_36p 1 validated missense c.426 p.M142I 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC17A8 246213 genome.wustl.edu 36 12 99338033 99338033 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99338033 99338033 C A SNP SLC17A8 NM_139319 human genbank 54_36p 1 validated missense c.1735 p.Q579K 1 NULL "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors NR1H4 9971 genome.wustl.edu 36 12 99454900 99454900 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99454900 99454900 C T SNP NR1H4 NM_005123 human genbank 54_36p 1 provisional missense c.863 p.T288M 1 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors LOC728467 728467 genome.wustl.edu 36 12 99986406 99986406 + RNA SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99986406 99986406 T A SNP LOC728467 XR_015542 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000218758 0 genome.wustl.edu 36 19 12219175 12219175 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12219175 12219175 G C SNP ENSG00000218758 ENST00000393337 human ensembl 54_36p -1 known missense c.1261 p.P421A 0.7 superfamily_SSF57667 "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_start_codon ENSG00000196703 0 genome.wustl.edu 36 11 123591505 123591505 + Nonsense_Mutation SNP T T G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123591505 123591505 T G SNP ENSG00000196703 ENST00000334412 human ensembl 54_36p 1 known nonsense c.873 p.Y291* 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_start_codon:no_stop_codon ENSG00000214298 0 genome.wustl.edu 36 10 126845421 126845421 + Silent SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 126845421 126845421 G T SNP ENSG00000214298 ENST00000398057 human ensembl 54_36p 1 known silent c.186 p.L62 1 NULL NULL - no_stop_codon LOC100128729 100128729 genome.wustl.edu 36 7 128005280 128005280 + RNA SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 128005280 128005280 G A SNP LOC100128729 XR_042327 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC100131134 100131134 genome.wustl.edu 36 7 128280650 128280650 + Silent SNP T A A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128280650 128280650 T A SNP LOC100131134 XM_001726492 human genbank 54_36p -1 model silent c.9 p.V3 0 NULL NULL - no_errors LOC100130883 100130883 genome.wustl.edu 36 3 129156 129156 + Silent SNP G C C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 129156 129156 G C SNP LOC100130883 XM_001714425 human genbank 54_36p -1 model silent c.384 p.L128 0.06 NULL NULL - no_start_codon:pseudogene:no_stop_codon ENSG00000205940 0 genome.wustl.edu 36 4 12948665 12948665 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 12948665 12948665 G T SNP ENSG00000205940 ENST00000382444 human ensembl 54_36p 1 known missense c.918 p.E306D 1 "HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold" - no_stop_codon:bad_bp_length_for_coding_region TMTC4 84899 genome.wustl.edu 36 13 100085302 100085302 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100085302 100085302 G C SNP TMTC4 NM_032813 human genbank 54_36p -1 validated missense c.1351 p.L451V 0.14 NULL "HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028,HMMPfam_TPR_1" - no_errors NALCN 259232 genome.wustl.edu 36 13 100512349 100512349 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100512349 100512349 A G SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4727 p.L1576P 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors NALCN 259232 genome.wustl.edu 36 13 100512443 100512443 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100512443 100512443 G A SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4633 p.R1545W 1 NULL "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100515868 100515868 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100515868 100515868 C T SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4493 p.R1498H 1 NULL "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100533220 100533220 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100533220 100533220 G T SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.3706 p.P1236T 1 superfamily_Voltage-gated potassium channels "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100742594 100742594 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 13 100742594 100742594 G T SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.924 p.F308L 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100828997 100828997 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100828997 100828997 A C SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.300 p.S100R 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors ITGBL1 9358 genome.wustl.edu 36 13 101018076 101018076 + Silent SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 101018076 101018076 G A SNP ITGBL1 NM_004791 human genbank 54_36p 1 provisional silent c.342 p.K114 1 "superfamily_SSF57196,HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA" "HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF" - no_errors TPP2 7174 genome.wustl.edu 36 13 102078242 102078242 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102078242 102078242 G C SNP TPP2 NM_003291 human genbank 54_36p 1 reviewed missense c.983 p.S328T 1 "superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8" "PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER" - no_errors ERCC5 2073 genome.wustl.edu 36 13 102308654 102308654 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102308654 102308654 T C SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed missense c.557 p.I186T 0.98 superfamily_PIN domain-like "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors ERCC5 2073 genome.wustl.edu 36 13 102326188 102326188 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102326188 102326188 C T SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed silent c.3495 p.A1165 1 NULL "HMMPfam_XPG_N,HMMSmart_SM00485,HMMPfam_XPG_I,HMMSmart_SM00484,PatternScan_XPG_2,HMMSmart_SM00279,PatternScan_XPG_1,superfamily_5' to 3' exonuclease C-terminal subdomain,superfamily_PIN domain-like" - no_errors SLC10A2 6555 genome.wustl.edu 36 13 102516248 102516248 + Nonsense_Mutation SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102516248 102516248 C T SNP SLC10A2 NM_000452 human genbank 54_36p -1 validated nonsense c.353 p.W118* 1 HMMPfam_SBF HMMPfam_SBF - no_errors LOC390424 390424 genome.wustl.edu 36 13 106114293 106114294 + RNA INS - - A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 106114293 106114294 - A INS LOC390424 XR_016535 human genbank 54_36p 1 model rna NULL NULL 0.958:0.959 - - - no_errors ABHD13 84945 genome.wustl.edu 36 13 107679821 107679821 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 107679821 107679821 C T SNP ABHD13 NM_032859 human genbank 54_36p 1 validated missense c.254 p.P85L 1 superfamily_alpha/beta-Hydrolases "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors MYO16 23026 genome.wustl.edu 36 13 108116343 108116343 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108116343 108116343 G A SNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.71 p.R24H 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors MYO16 23026 genome.wustl.edu 36 13 108116425 108116425 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108116425 108116425 G A SNP MYO16 NM_015011 human genbank 54_36p 1 validated silent c.153 p.A51 0.01 superfamily_Ankyrin repeat "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO16 23026 genome.wustl.edu 36 13 108338817 108338817 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108338817 108338817 A T SNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.1584 p.R528S 0.99 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO16 23026 genome.wustl.edu 36 13 108575501 108575501 + Silent SNP A A G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108575501 108575501 A G SNP MYO16 NM_015011 human genbank 54_36p 1 validated silent c.3510 p.R1170 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors COL4A1 1282 genome.wustl.edu 36 13 109615261 109615261 + Missense_Mutation SNP G A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 13 109615261 109615261 G A SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed missense c.4099 p.P1367S 0.97 HMMPfam_Collagen "HMMPfam_Collagen,superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111" - no_errors COL4A1 1282 genome.wustl.edu 36 13 109625612 109625612 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 109625612 109625612 T A SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed missense c.3152 p.Q1051L 0.99 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A2 1284 genome.wustl.edu 36 13 109880245 109880245 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 109880245 109880245 C T SNP COL4A2 NM_001846 human genbank 54_36p 1 reviewed missense c.490 p.P164S 1 HMMPfam_Collagen "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold" - no_errors ING1 3621 genome.wustl.edu 36 13 110170145 110170145 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 110170145 110170145 G T SNP ING1 NM_005537 human genbank 54_36p 1 reviewed missense c.1134 p.W378C 1 "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors ARHGEF7 8874 genome.wustl.edu 36 13 110736520 110736520 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 110736520 110736520 T G SNP ARHGEF7 NM_145735 human genbank 54_36p 1 reviewed missense c.1976 p.M659R 1 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors ATP4B 496 genome.wustl.edu 36 13 113355240 113355240 + Silent SNP G G C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 113355240 113355240 G C SNP ATP4B NM_000705 human genbank 54_36p -1 reviewed silent c.504 p.P168 0.52 HMMPfam_Na_K-ATPase "HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_1,PatternScan_ATPASE_NA_K_BETA_2" - no_errors ZNF828 283489 genome.wustl.edu 36 13 114107684 114107684 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 114107684 114107684 G C SNP ZNF828 NM_032436 human genbank 54_36p 1 provisional missense c.265 p.D89H 0.98 superfamily_C2H2 and C2HC zinc fingers "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC283523 283523 genome.wustl.edu 36 13 18153787 18153787 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18153787 18153787 A T SNP LOC283523 XM_001714856 human genbank 54_36p 1 model nonsense c.1243 p.K415* 1 "superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" "superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - pseudogene TUBA3C 7278 genome.wustl.edu 36 13 18646050 18646051 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18646050 18646051 CC AA DNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.1306_1305 p.G436C 0.999:0.979 superfamily_Tubulin C-terminal domain-like "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18649364 18649364 + Silent SNP C T T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18649364 18649364 C T SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed silent c.759 p.T253 0.96 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18650417 18650417 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18650417 18650417 A G SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.344 p.V115A 1 "HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TPTE2 93492 genome.wustl.edu 36 13 18954660 18954660 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18954660 18954660 T G SNP TPTE2 NM_199254 human genbank 54_36p -1 validated missense c.147 p.E49D 0 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2" - no_errors ZMYM2 7750 genome.wustl.edu 36 13 19539011 19539011 + Silent SNP A A G novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 19539011 19539011 A G SNP ZMYM2 NM_003453 human genbank 54_36p 1 validated silent c.3153 p.V1051 1 NULL "HMMPfam_zf-FCS,HMMSmart_TRASH" - no_errors SACS 26278 genome.wustl.edu 36 13 22811133 22811133 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 22811133 22811133 G A SNP SACS NM_014363 human genbank 54_36p -1 validated nonsense c.4441 p.Q1481* 1 superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,superfamily_Chaperone J-domain,HMMPfam_HEPN,superfamily_Nucleotidyltransferase substrate binding subunit/domain,HMMSmart_SM00748" - no_errors SACS 26278 genome.wustl.edu 36 13 22811870 22811870 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 22811870 22811870 T C SNP SACS NM_014363 human genbank 54_36p -1 validated missense c.3704 p.H1235R 1 NULL "superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain" - no_errors PARP4 143 genome.wustl.edu 36 13 23949839 23949839 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 23949839 23949839 C G SNP PARP4 NM_006437 human genbank 54_36p -1 reviewed missense c.1789 p.D597H 1 NULL "HMMPfam_BRCT,superfamily_BRCT,HMMSmart_BRCT,superfamily_PARP_reg,HMMPfam_PARP,superfamily_SSF56399,HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" - no_errors FAM123A 219287 genome.wustl.edu 36 13 24641799 24641799 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 24641799 24641799 G T SNP FAM123A NM_152704 human genbank 54_36p -1 validated silent c.1959 p.G653 1 NULL HMMPfam_WTX - no_errors MTMR6 9107 genome.wustl.edu 36 13 24724045 24724045 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 24724045 24724045 G A SNP MTMR6 NM_004685 human genbank 54_36p -1 validated missense c.1424 p.S475F 0.95 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors MTMR6 9107 genome.wustl.edu 36 13 24729942 24729942 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 24729942 24729942 C T SNP MTMR6 NM_004685 human genbank 54_36p -1 validated missense c.901 p.G301S 1 "HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors ATP8A2 51761 genome.wustl.edu 36 13 25309376 25309376 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 25309376 25309376 C T SNP ATP8A2 NM_016529 human genbank 54_36p 1 validated missense c.2830 p.P944S 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors GTF3A 2971 genome.wustl.edu 36 13 26907711 26907711 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 26907711 26907711 G A SNP GTF3A ENST00000381140 human ensembl 54_36p 1 known missense c.1246 p.V416I 0.01 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors LNX2 222484 genome.wustl.edu 36 13 27039953 27039953 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27039953 27039953 G A SNP LNX2 NM_153371 human genbank 54_36p -1 validated missense c.679 p.P227S 1 superfamily_PDZ "superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors LNX2 222484 genome.wustl.edu 36 13 27053767 27053767 + Missense_Mutation SNP T A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27053767 27053767 T A SNP LNX2 NM_153371 human genbank 54_36p -1 validated missense c.74 p.E25V 1 superfamily_SSF57850 "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors GSX1 219409 genome.wustl.edu 36 13 27266002 27266002 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27266002 27266002 A T SNP GSX1 NM_145657 human genbank 54_36p 1 provisional nonsense c.712 p.K238* 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ATP5EP2 432369 genome.wustl.edu 36 13 27417532 27417532 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27417532 27417532 G T SNP ATP5EP2 ENST00000381026 human ensembl 54_36p 1 known missense c.136 p.V46L 1 "superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps" "superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps" - no_errors FLT3 2322 genome.wustl.edu 36 13 27506122 27506122 + Missense_Mutation SNP A G G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27506122 27506122 A G SNP FLT3 NM_004119 human genbank 54_36p -1 reviewed missense c.1844 p.V615A 0.92 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors FLT1 2321 genome.wustl.edu 36 13 27878000 27878000 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27878000 27878000 A G SNP FLT1 NM_002019 human genbank 54_36p -1 validated missense c.1468 p.F490L 0.11 "superfamily_Immunoglobulin,HMMSmart_SM00409" ############################################################################################################################################################################################################################################################### - no_errors FLT1 2321 genome.wustl.edu 36 13 27906235 27906235 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27906235 27906235 A T SNP FLT1 NM_002019 human genbank 54_36p -1 validated missense c.636 p.N212K 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors MTUS2 23281 genome.wustl.edu 36 13 28796764 28796764 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 28796764 28796764 G A SNP KIAA0774 NM_001033602 human genbank 54_36p 1 validated missense c.2851 p.A951T 0.07 NULL NULL - no_errors C13orf26 122046 genome.wustl.edu 36 13 30424879 30424879 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 30424879 30424879 A C SNP C13orf26 NM_152325 human genbank 54_36p 1 predicted missense c.229 p.T77P 0.07 NULL NULL - no_errors B3GALTL 145173 genome.wustl.edu 36 13 30758859 30758859 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 30758859 30758859 C T SNP B3GALTL NM_194318 human genbank 54_36p 1 reviewed missense c.967 p.H323Y 1 HMMPfam_Fringe "HMMPfam_Fringe,PatternScan_ER_TARGET" - no_errors FRY 10129 genome.wustl.edu 36 13 31733643 31733643 + Silent SNP A A G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31733643 31733643 A G SNP FRY ENST00000380257 human ensembl 54_36p 1 known silent c.7422 p.L2474 0 NULL PatternScan_GHMP_KINASES_ATP - no_errors BRCA2 675 genome.wustl.edu 36 13 31810178 31810178 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T - T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31810178 31810178 T - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.3686 p.S1230fs 0.94 HMMPfam_BRCA2 "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31808402,31813333])" no_errors BRCA2 675 genome.wustl.edu 36 13 31810708 31810711 + Frame_Shift_Del DEL AAAG AAAG - novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 AAAG AAAG AAAG - AAAG AAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31810708 31810711 AAAG - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.4216_4219 p.K1406fs 0.382:0.373:0.386:0.064 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31808402,31813333])" no_errors BRCA2 675 genome.wustl.edu 36 13 31811404 31811404 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31811404 31811404 A G SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed missense c.4912 p.K1638E 0.82 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" - no_errors BRCA2 675 genome.wustl.edu 36 13 31835426 31835441 + Frame_Shift_Del DEL TGAGCGCAAATATATC TGAGCGCAAATATATC - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 TGAGCGCAAATATATC TGAGCGCAAATATATC TGAGCGCAAATATATC - TGAGCGCAAATATATC TGAGCGCAAATATATC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31835426 31835441 TGAGCGCAAATATATC - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.8087_8102 p.S2697fs 0.000:0.000:0.002:0.003:0.004:0.003:0.005:0.002:0.001:0.001:0.001:0.001:0.001:0.001:0.000:0.003 "HMMPfam_BRCA-2_OB1,superfamily_Nucleic_acid_OB" "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31835316,31835670])" no_errors N4BP2L2 10443 genome.wustl.edu 36 13 31914881 31914893 + Frame_Shift_Del DEL AAAGAAGGAATAT AAAGAAGGAATAT - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 AAAGAAGGAATAT AAAGAAGGAATAT AAAGAAGGAATAT - AAAGAAGGAATAT AAAGAAGGAATAT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31914881 31914893 AAAGAAGGAATAT - DEL N4BP2L2 NM_033111 human genbank 54_36p -1 validated frame_shift_del c.1793_1781 p.Y594fs 0.710:0.923:0.954:0.983:0.982:0.982:0.976:0.947:0.842:0.518:0.003:0.004:0.002 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases "(deletion:cds_exon[31914525,31916263])" no_errors PDS5B 23047 genome.wustl.edu 36 13 32228035 32228035 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 32228035 32228035 G T SNP PDS5B NM_015032 human genbank 54_36p 1 validated missense c.2997 p.L999F 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook" - no_errors STARD13 90627 genome.wustl.edu 36 13 32614466 32614466 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 32614466 32614466 A T SNP STARD13 NM_178006 human genbank 54_36p -1 validated missense c.368 p.V123E 1 NULL "HMMPfam_SAM_2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors STARD13 90627 genome.wustl.edu 36 13 32637488 32637488 + Silent SNP T T A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 32637488 32637488 T A SNP STARD13 NM_178006 human genbank 54_36p -1 validated silent c.309 p.V103 1 HMMPfam_SAM_2 "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like" - no_errors NBEA 26960 genome.wustl.edu 36 13 34513294 34513294 + Missense_Mutation SNP G A A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 34513294 34513294 G A SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.519 p.M173I 1 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors NBEA 26960 genome.wustl.edu 36 13 34528261 34528261 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 34528261 34528261 A T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.1087 p.N363Y 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_ARM repeat" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEA 26960 genome.wustl.edu 36 13 34633998 34633998 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 34633998 34633998 C T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.3973 p.R1325W 1 superfamily_ARM repeat "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEA 26960 genome.wustl.edu 36 13 35022684 35022684 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35022684 35022684 G C SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.6656 p.R2219P 1 "superfamily_ARM repeat,superfamily_PH domain-like" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors DCLK1 9201 genome.wustl.edu 36 13 35282981 35282981 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35282981 35282981 G A SNP DCLK1 NM_004734 human genbank 54_36p -1 validated missense c.1679 p.A560V 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DCLK1 9201 genome.wustl.edu 36 13 35322904 35322904 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35322904 35322904 G A SNP DCAMKL1 ENST00000379892 human ensembl 54_36p -1 known missense c.1045 p.R349C 1 NULL "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX" - no_errors CCNA1 8900 genome.wustl.edu 36 13 35914759 35914759 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35914759 35914759 G A SNP CCNA1 NM_003914 human genbank 54_36p 1 reviewed missense c.1355 p.C452Y 0.77 "HMMPfam_Cyclin_C,superfamily_Cyclin-like" "superfamily_Cyclin-like,HMMPfam_Cyclin_N,PatternScan_CYCLINS,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors RFXAP 5994 genome.wustl.edu 36 13 36292092 36292092 + Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 36292092 36292092 G T SNP RFXAP NM_000538 human genbank 54_36p 1 reviewed nonsense c.598 p.E200* 1 NULL NULL - no_errors POSTN 10631 genome.wustl.edu 36 13 37036662 37036663 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 - - - T - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 37036662 37036663 - T INS POSTN NM_006475 human genbank 54_36p -1 validated frame_shift_ins c.2467_2466 p.V822fs 0.975:0.976 NULL "HMMPfam_EMI,superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554" - no_errors TRPC4 7223 genome.wustl.edu 36 13 37123424 37123424 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 37123424 37123424 G T SNP TRPC4 NM_016179 human genbank 54_36p -1 validated missense c.2057 p.P686Q 1 NULL "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans,PatternScan_RIBOSOMAL_S2_1" - no_errors TRPC4 7223 genome.wustl.edu 36 13 37123513 37123513 + Silent SNP G C C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 37123513 37123513 G C SNP TRPC4 NM_016179 human genbank 54_36p -1 validated silent c.1968 p.P656 0.99 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2,PatternScan_RIBOSOMAL_S2_1" - no_errors UFM1 51569 genome.wustl.edu 36 13 37826430 37826441 + Splice_Site DEL AGAAGTAAGTAC AGAAGTAAGTAC - novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 AGAAGTAAGTAC AGAAGTAAGTAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 37826430 37826441 AGAAGTAAGTAC - DEL UFM1 NM_016617 human genbank 54_36p 1 validated splice_site_del c.114_117 p.E38fs 1.000:1.000:1.000:1.000 "superfamily_Ubiquitin-like,HMMPfam_Ufm1" "superfamily_Ubiquitin-like,HMMPfam_Ufm1" "(deletion:cds_exon[37826376,37826433], intron[37826434,37830229])" no_errors FREM2 341640 genome.wustl.edu 36 13 38162383 38162383 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38162383 38162383 G A SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.2902 p.V968I 0.92 NULL "HMMSmart_SM00237,HMMPfam_Calx-beta" - no_errors FREM2 341640 genome.wustl.edu 36 13 38256814 38256814 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38256814 38256814 T C SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.5888 p.I1963T 0.07 "HMMPfam_Calx-beta,HMMSmart_SM00237" "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors FREM2 341640 genome.wustl.edu 36 13 38328279 38328279 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38328279 38328279 A T SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.6942 p.E2314D 0.98 "HMMPfam_Calx-beta,HMMSmart_SM00237" "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors STOML3 161003 genome.wustl.edu 36 13 38439003 38439003 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38439003 38439003 C T SNP STOML3 NM_145286 human genbank 54_36p -1 validated missense c.835 p.V279I 0 NULL "HMMSmart_PHB,HMMPfam_Band_7,PatternScan_BAND_7" - no_errors KBTBD6 89890 genome.wustl.edu 36 13 40603167 40603167 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 40603167 40603167 A C SNP KBTBD6 NM_152903 human genbank 54_36p -1 validated missense c.1481 p.M494R 1 superfamily_Gal_oxid_central "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KBTBD7 84078 genome.wustl.edu 36 13 40664661 40664661 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 40664661 40664661 C G SNP KBTBD7 NM_032138 human genbank 54_36p -1 provisional missense c.1733 p.W578S 1 superfamily_Galactose oxidase central domain "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors KBTBD7 84078 genome.wustl.edu 36 13 40665783 40665783 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 40665783 40665783 C A SNP KBTBD7 NM_032138 human genbank 54_36p -1 provisional missense c.611 p.S204I 0.97 HMMPfam_BACK "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors KIAA0564 23078 genome.wustl.edu 36 13 41147411 41147411 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 41147411 41147411 G C SNP KIAA0564 NM_015058 human genbank 54_36p -1 validated missense c.4349 p.S1450C 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327" - no_errors DGKH 160851 genome.wustl.edu 36 13 41691919 41691919 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 41691919 41691919 G A SNP DGKH NM_178009 human genbank 54_36p 1 reviewed missense c.3431 p.S1144N 1 superfamily_SAM/Pointed domain ############################################################################################################################################################################################################################################################### - no_errors EPSTI1 94240 genome.wustl.edu 36 13 42360622 42360622 + Silent SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 42360622 42360622 A G SNP EPSTI1 NM_001002264 human genbank 54_36p -1 validated silent c.997 p.L333 0.24 NULL NULL - no_errors CPB2 1361 genome.wustl.edu 36 13 45525782 45525782 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 45525782 45525782 T G SNP CPB2 NM_001872 human genbank 54_36p -1 reviewed missense c.1240 p.K414Q 0.72 superfamily_Zn-dependent exopeptidases "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" - no_errors LCP1 3936 genome.wustl.edu 36 13 45614517 45614517 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 45614517 45614517 C T SNP LCP1 NM_002298 human genbank 54_36p -1 reviewed silent c.1413 p.A471 1 "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH" "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2" - no_errors LRCH1 23143 genome.wustl.edu 36 13 46158085 46158085 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 46158085 46158085 A G SNP LRCH1 NM_015116 human genbank 54_36p 1 provisional missense c.730 p.K244E 1 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,PatternScan_PTS_HPR_SER,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors HTR2A 3356 genome.wustl.edu 36 13 46307197 46307197 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 46307197 46307197 G C SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.1192 p.Q398E 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTR2A 3356 genome.wustl.edu 36 13 46364583 46364583 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 46364583 46364583 A G SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.556 p.F186L 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MED4 29079 genome.wustl.edu 36 13 47562502 47562502 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47562502 47562502 C A SNP MED4 NM_014166 human genbank 54_36p -1 provisional missense c.179 p.G60V 1 HMMPfam_VDRIP HMMPfam_VDRIP - no_errors TRIM13 10206 genome.wustl.edu 36 13 49484660 49484660 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 49484660 49484660 C T SNP TRIM13 NM_001007278 human genbank 54_36p 1 reviewed nonsense c.592 p.Q198* 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57845" - no_errors TRIM13 10206 genome.wustl.edu 36 13 49485278 49485278 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 49485278 49485278 G T SNP TRIM13 NM_001007278 human genbank 54_36p 1 reviewed missense c.1210 p.V404L 1 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57845,superfamily_SSF57850" - no_errors INTS6 26512 genome.wustl.edu 36 13 50841316 50841317 + Missense_Mutation DNP CC CC TT novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 CC CC CC TT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 50841316 50841317 CC TT DNP INTS6 NM_012141 human genbank 54_36p -1 reviewed missense c.2236_2235 p.E746K 0.994:0.986 NULL "superfamily_vWA-like,PatternScan_DEAD_ATP_HELICASE" - no_errors ALG11 440138 genome.wustl.edu 36 13 51491273 51491273 + Missense_Mutation SNP C G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 13 51491273 51491273 C G SNP ALG11 NM_001004127 human genbank 54_36p 1 provisional missense c.268 p.Q90E 1 superfamily_SSF53756 "superfamily_SSF53756,HMMPfam_Glycos_transf_1" - no_errors THSD1 55901 genome.wustl.edu 36 13 51870016 51870016 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 51870016 51870016 C A SNP THSD1 NM_018676 human genbank 54_36p -1 reviewed missense c.373 p.V125L 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors CKAP2 26586 genome.wustl.edu 36 13 51946157 51946157 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 51946157 51946157 A G SNP CKAP2 NM_001098525 human genbank 54_36p 1 validated missense c.1742 p.N581S 0 NULL NULL - no_errors PCDH17 27253 genome.wustl.edu 36 13 57106328 57106328 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 57106328 57106328 G A SNP PCDH17 NM_001040429 human genbank 54_36p 1 reviewed silent c.1647 p.E549 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDH17 27253 genome.wustl.edu 36 13 57106788 57106788 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 57106788 57106788 G A SNP PCDH17 NM_001040429 human genbank 54_36p 1 reviewed missense c.2107 p.D703N 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors DIAPH3 81624 genome.wustl.edu 36 13 59305280 59305280 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 59305280 59305280 A T SNP DIAPH3 NM_001042517 human genbank 54_36p -1 validated missense c.2989 p.F997I 0.99 "superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,PatternScan_RNASE_PANCREATIC,HMMPfam_Drf_DAD" - no_errors DIAPH3 81624 genome.wustl.edu 36 13 59311503 59311503 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 59311503 59311503 G A SNP DIAPH3 NM_001042517 human genbank 54_36p -1 validated missense c.2818 p.P940S 1 "HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" "PatternScan_RNASE_PANCREATIC,HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" - no_errors PCDH20 64881 genome.wustl.edu 36 13 60883960 60883960 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 60883960 60883960 G T SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.2192 p.T731N 1 "superfamily_Cadherin,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDH20 64881 genome.wustl.edu 36 13 60884438 60884438 + Silent SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 60884438 60884438 G T SNP PCDH20 NM_022843 human genbank 54_36p -1 validated silent c.1714 p.R572 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDH20 64881 genome.wustl.edu 36 13 60884812 60884812 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 60884812 60884812 G A SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.1340 p.P447L 1 "HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDH9 5101 genome.wustl.edu 36 13 65777069 65777069 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 65777069 65777069 G A SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.3433 p.P1145S 1 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMPfam_Protocadherin" - no_errors PCDH9 5101 genome.wustl.edu 36 13 66103459 66103459 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 66103459 66103459 C T SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.3224 p.G1075D 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin-like" - no_errors KLF12 11278 genome.wustl.edu 36 13 73187530 73187530 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 73187530 73187530 T C SNP KLF12 NM_007249 human genbank 54_36p -1 validated missense c.1003 p.K335E 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC647288 647288 genome.wustl.edu 36 13 74711645 74711645 + RNA SNP A A T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 74711645 74711645 A T SNP LOC647288 XR_017516 human genbank 54_36p -1 model rna NULL NULL 0.87 - - - pseudogene LOC647288 647288 genome.wustl.edu 36 13 74712540 74712540 + RNA SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 74712540 74712540 C A SNP LOC647288 XR_017516 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC390413 390413 genome.wustl.edu 36 13 76453818 76453818 + RNA SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76453818 76453818 C T SNP LOC390413 XR_017528 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CLN5 1203 genome.wustl.edu 36 13 76468169 76468169 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76468169 76468169 C T SNP CLN5 NM_006493 human genbank 54_36p 1 reviewed silent c.618 p.F206 1 NULL NULL - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76527820 76527820 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76527820 76527820 C G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.13407 p.M4469I 1 NULL "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,HMMPfam_PHR,superfamily_E set domains,superfamily_Galactose-binding domain-like,superfamily_RING/U-box,HMMSmart_SM00184" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76536761 76536761 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76536761 76536761 G C SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.12548 p.A4183G 1 NULL "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76638566 76638566 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76638566 76638566 C G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.6125 p.G2042A 1 NULL "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76652359 76652359 + Missense_Mutation SNP T G G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76652359 76652359 T G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.4923 p.R1641S 1 NULL "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76696612 76696612 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 76696612 76696612 G C SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.2800 p.L934V 1 "HMMPfam_RCC1,superfamily_RCC1/BLIP-II" "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors SCEL 8796 genome.wustl.edu 36 13 77065663 77065663 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 77065663 77065663 G C SNP SCEL NM_144777 human genbank 54_36p 1 reviewed missense c.706 p.D236H 0.01 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1" - no_errors SLAIN1 122060 genome.wustl.edu 36 13 77216405 77216405 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 77216405 77216405 C T SNP SLAIN1 ENST00000377236 human ensembl 54_36p 1 known silent c.42 p.F14 0 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region POU4F1 5457 genome.wustl.edu 36 13 78073769 78073769 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 78073769 78073769 C G SNP POU4F1 NM_006237 human genbank 54_36p -1 validated missense c.1042 p.E348Q 1 superfamily_Homeodomain-like "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors RBM26 64062 genome.wustl.edu 36 13 78831779 78831779 + Silent SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 78831779 78831779 T G SNP RBM26 NM_022118 human genbank 54_36p -1 validated silent c.1461 p.S487 1 NULL "superfamily_SSF101233,HMMPfam_DUF1777,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928,HMMSmart_RRM" - no_errors SPRY2 10253 genome.wustl.edu 36 13 79809658 79809658 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 79809658 79809658 C T SNP SPRY2 NM_005842 human genbank 54_36p -1 reviewed missense c.184 p.V62I 1 NULL HMMPfam_Sprouty - no_errors SLITRK6 84189 genome.wustl.edu 36 13 85268362 85268362 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 85268362 85268362 G T SNP SLITRK6 NM_032229 human genbank 54_36p -1 validated missense c.283 p.L95I 1 "superfamily_L domain-like,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - no_errors SLITRK5 26050 genome.wustl.edu 36 13 87127446 87127446 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 87127446 87127446 C A SNP SLITRK5 NM_015567 human genbank 54_36p 1 validated missense c.1802 p.T601N 0.9 "superfamily_L domain-like,HMMSmart_SM00082" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT" - no_errors DCT 1638 genome.wustl.edu 36 13 93929317 93929317 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 93929317 93929317 C G SNP DCT NM_001922 human genbank 54_36p -1 validated missense c.194 p.R65P 0.1 NULL "superfamily_Di-copper_centre,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2" - no_errors CLDN10 9071 genome.wustl.edu 36 13 94884273 94884273 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 94884273 94884273 G T SNP CLDN10 NM_182848 human genbank 54_36p 1 reviewed missense c.185 p.R62L 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors DZIP1 22873 genome.wustl.edu 36 13 95075051 95075051 + Nonsense_Mutation SNP A A T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 95075051 95075051 A T SNP DZIP1 NM_198968 human genbank 54_36p -1 validated nonsense c.944 p.L315* 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors DNAJC3 5611 genome.wustl.edu 36 13 95193152 95193152 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 95193152 95193152 T A SNP DNAJC3 ENST00000360638 human ensembl 54_36p 1 known missense c.657 p.S219R 0 NULL "superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1" - no_errors SLC15A1 6564 genome.wustl.edu 36 13 98158993 98158993 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 98158993 98158993 A G SNP SLC15A1 NM_005073 human genbank 54_36p -1 validated missense c.1097 p.V366A 1 "superfamily_MFS general substrate transporter,HMMPfam_PTR2" "superfamily_MFS general substrate transporter,PatternScan_PTR2_1,HMMPfam_PTR2,PatternScan_PTR2_2" - no_errors ENSG00000214100 0 genome.wustl.edu 36 2 130399744 130399744 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 130399744 130399744 C T SNP ENSG00000214100 ENST00000397540 human ensembl 54_36p -1 novel missense c.14 p.C5Y 0.27 NULL NULL - no_errors POTEKP 440915 genome.wustl.edu 36 2 132074138 132074138 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 132074138 132074138 C G SNP ACTBL3 ENST00000397487 human ensembl 54_36p 1 known missense c.790 p.L264V 0 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_stop_codon LOC100128322 100128322 genome.wustl.edu 36 6 132189957 132189957 + RNA SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132189957 132189957 A G SNP LOC100128322 XR_039280 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC100128322 100128322 genome.wustl.edu 36 6 132191190 132191190 + RNA SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132191190 132191190 G T SNP LOC100128322 XR_039280 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene MIR20B 574032 genome.wustl.edu 36 X 133131530 133131530 + RNA SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 133131530 133131530 T C SNP MIRN20B ENST00000384977 human ensembl 54_36p -1 known rna NULL NULL 1 - - - no_errors MIR504 574507 genome.wustl.edu 36 X 137577620 137577620 + RNA SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 137577620 137577620 C A SNP MIRN504 ENST00000385065 human ensembl 54_36p -1 known rna NULL NULL 0.86 - - - no_errors PPP2R5C 5527 genome.wustl.edu 36 14 101453935 101453935 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 101453935 101453935 T G SNP PPP2R5C NM_002719 human genbank 54_36p 1 reviewed missense c.1341 p.S447R 1 NULL "HMMPfam_B56,superfamily_ARM repeat" - no_errors HSP90AA1 3320 genome.wustl.edu 36 14 101621019 101621022 + Frame_Shift_Del DEL TTTC TTTC - novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 TTTC TTTC TTTC - TTTC TTTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 101621019 101621022 TTTC - DEL HSP90AA1 NM_001017963 human genbank 54_36p -1 validated frame_shift_del c.1099_1096 p.E366fs 0.847:0.837:0.989:0.994 HMMPfam_HSP90 ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[101620771,101621088])" no_errors RAGE 5891 genome.wustl.edu 36 14 101765638 101765638 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 101765638 101765638 G C SNP RAGE NM_014226 human genbank 54_36p -1 provisional missense c.1091 p.S364C 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors RAGE 5891 genome.wustl.edu 36 14 101768721 101768721 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 101768721 101768721 T G SNP RAGE NM_014226 human genbank 54_36p -1 provisional missense c.770 p.Q257P 0.03 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors BAG5 9529 genome.wustl.edu 36 14 103096679 103096679 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 103096679 103096679 C A SNP BAG5 NM_001015049 human genbank 54_36p -1 reviewed missense c.699 p.E233D 0.98 "superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264" "superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264" - no_errors TDRD9 122402 genome.wustl.edu 36 14 103552136 103552136 + Silent SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 103552136 103552136 G T SNP TDRD9 NM_153046 human genbank 54_36p 1 validated silent c.1434 p.A478 0.03 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" - no_errors ADSSL1 122622 genome.wustl.edu 36 14 104282285 104282285 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104282285 104282285 T A SNP ADSSL1 NM_199165 human genbank 54_36p 1 validated missense c.1294 p.F432I 1 "HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540" "HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540,PatternScan_ADENYLOSUCCIN_SYN_2" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104477692 104477692 + Silent SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104477692 104477692 A C SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.15141 p.P5047 0 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104482768 104482768 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104482768 104482768 G T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.10065 p.D3355E 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104483748 104483748 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 104483748 104483748 C G SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.9085 p.E3029Q 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104484262 104484262 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 104484262 104484262 C T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.8571 p.K2857 0.38 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors CDCA4 55038 genome.wustl.edu 36 14 104549113 104549113 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104549113 104549113 G A SNP CDCA4 NM_017955 human genbank 54_36p -1 reviewed missense c.199 p.R67W 1 HMMPfam_SERTA HMMPfam_SERTA - no_errors GPR132 29933 genome.wustl.edu 36 14 104589053 104589053 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104589053 104589053 G A SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed missense c.466 p.R156W 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR132 29933 genome.wustl.edu 36 14 104589084 104589084 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104589084 104589084 C T SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed silent c.435 p.V145 0.57 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors BRF1 2972 genome.wustl.edu 36 14 104755051 104755051 + Silent SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104755051 104755051 G T SNP BRF1 NM_001519 human genbank 54_36p -1 reviewed silent c.1647 p.A549 0.15 NULL "HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,HMMPfam_BRF1" - no_errors IGHE 3497 genome.wustl.edu 36 14 105138472 105138472 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105138472 105138472 A T SNP IGHE ENST00000390540 human ensembl 54_36p -1 known missense c.421 p.Y141N 0 "superfamily_SSF48726,HMMSmart_IGc1,HMMPfam_C1-set" "superfamily_SSF48726,HMMSmart_IGc1,HMMPfam_C1-set,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHG2 3501 genome.wustl.edu 36 14 105180768 105180768 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 105180768 105180768 C A SNP IGHG2 ENST00000390544 human ensembl 54_36p -1 known nonsense c.793 p.G265* 0.01 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHD 3495 genome.wustl.edu 36 14 105377897 105377897 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105377897 105377897 G A SNP IGHD ENST00000390556 human ensembl 54_36p -1 known missense c.976 p.L326F 0 "superfamily_Immunoglobulin,HMMSmart_SM00407,HMMPfam_C1-set" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_ig" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHD 3495 genome.wustl.edu 36 14 105382769 105382771 + In_Frame_Del DEL CTC CTC - novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 CTC CTC CTC - CTC CTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105382769 105382771 CTC - DEL IGHD ENST00000390556 human ensembl 54_36p -1 known in_frame_del c.287_285 p.R96in_frame_del 0.000:0.001:0.001 "HMMPfam_C1-set,superfamily_Immunoglobulin" "PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,HMMPfam_ig,superfamily_Immunoglobulin" "(deletion:cds_exon[105382753,105383055])" no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHM 3507 genome.wustl.edu 36 14 105391761 105391761 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105391761 105391761 C A SNP IGHM ENST00000390558 human ensembl 54_36p -1 known nonsense c.1093 p.G365* 1 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000211954 0 genome.wustl.edu 36 14 105876484 105876484 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 105876484 105876484 T C SNP ENSG00000211954 ENST00000390614 human ensembl 54_36p -1 known missense c.124 p.T42A 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211962 0 genome.wustl.edu 36 14 106038188 106038188 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 106038188 106038188 C T SNP ENSG00000211962 ENST00000390622 human ensembl 54_36p -1 known missense c.257 p.R86K 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000215398 0 genome.wustl.edu 36 14 18187185 18187185 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 18187185 18187185 C A SNP ENSG00000215398 ENST00000400208 human ensembl 54_36p 1 known nonsense c.491 p.S164* 0.01 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE" - no_start_codon OR11H12 440153 genome.wustl.edu 36 14 18447700 18447700 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18447700 18447700 G A SNP OR11H12 NM_001013354 human genbank 54_36p 1 provisional nonsense c.107 p.W36* 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR11H12 440153 genome.wustl.edu 36 14 18447878 18447878 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18447878 18447878 G T SNP OR11H12 NM_001013354 human genbank 54_36p 1 provisional missense c.285 p.K95N 0.05 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC642458 642458 genome.wustl.edu 36 14 18558349 18558349 + RNA SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18558349 18558349 T A SNP LOC642458 XR_016116 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene OR4N2 390429 genome.wustl.edu 36 14 19366355 19366355 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19366355 19366355 A T SNP OR4N2 NM_001004723 human genbank 54_36p 1 provisional missense c.908 p.N303I 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K2 390431 genome.wustl.edu 36 14 19415120 19415120 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19415120 19415120 T A SNP OR4K2 NM_001005501 human genbank 54_36p 1 provisional missense c.854 p.I285K 0.12 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K2 390431 genome.wustl.edu 36 14 19415193 19415193 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19415193 19415193 T A SNP OR4K2 NM_001005501 human genbank 54_36p 1 provisional missense c.927 p.N309K 0 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR4K1 79544 genome.wustl.edu 36 14 19473741 19473741 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19473741 19473741 T C SNP OR4K1 NM_001004063 human genbank 54_36p 1 provisional missense c.76 p.F26L 0.15 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4L1 122742 genome.wustl.edu 36 14 19598093 19598093 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19598093 19598093 T C SNP OR4L1 NM_001004717 human genbank 54_36p 1 provisional missense c.50 p.F17S 0.23 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4L1 122742 genome.wustl.edu 36 14 19598948 19598948 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19598948 19598948 G T SNP OR4L1 NM_001004717 human genbank 54_36p 1 provisional missense c.905 p.R302L 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR4N5 390437 genome.wustl.edu 36 14 19682585 19682585 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19682585 19682585 C A SNP OR4N5 NM_001004724 human genbank 54_36p 1 provisional missense c.851 p.P284H 0.92 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR11H6 122748 genome.wustl.edu 36 14 19761717 19761717 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19761717 19761717 T G SNP OR11H6 NM_001004480 human genbank 54_36p 1 provisional missense c.9 p.F3L 0 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR11H6 122748 genome.wustl.edu 36 14 19762235 19762235 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19762235 19762235 T A SNP OR11H6 NM_001004480 human genbank 54_36p 1 provisional missense c.527 p.V176D 0.09 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR11H4 390442 genome.wustl.edu 36 14 19781045 19781045 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19781045 19781045 C T SNP OR11H4 NM_001004479 human genbank 54_36p 1 provisional silent c.255 p.S85 0.71 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CCNB1IP1 57820 genome.wustl.edu 36 14 19851594 19851594 + Missense_Mutation SNP A A T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19851594 19851594 A T SNP CCNB1IP1 NM_021178 human genbank 54_36p -1 validated missense c.504 p.N168K 1 NULL PatternScan_ZF_RING_1 - no_errors PARP2 10038 genome.wustl.edu 36 14 19890252 19890252 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19890252 19890252 A C SNP PARP2 NM_005484 human genbank 54_36p 1 reviewed missense c.545 p.D182A 1 "HMMPfam_WGR,HMMSmart_SM00773" "HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,HMMPfam_PARP,superfamily_ADP-ribosylation,PatternScan_CASPASE_HIS,PatternScan_CPSASE_2" - no_errors APEX1 328 genome.wustl.edu 36 14 19995128 19995128 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19995128 19995128 G A SNP APEX1 NM_001641 human genbank 54_36p 1 reviewed missense c.578 p.R193H 1 "superfamily_DNase I-like,HMMPfam_Exo_endo_phos" "superfamily_DNase I-like,HMMPfam_Exo_endo_phos,PatternScan_AP_NUCLEASE_F1_1,PatternScan_AP_NUCLEASE_F1_2,PatternScan_AP_NUCLEASE_F1_3" - no_errors PNP 4860 genome.wustl.edu 36 14 20013201 20013201 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20013201 20013201 A T SNP NP NM_000270 human genbank 54_36p 1 reviewed missense c.602 p.E201V 1 "superfamily_SSF53167,HMMPfam_PNP_UDP_1" "superfamily_SSF53167,HMMPfam_PNP_UDP_1,PatternScan_PNP_MTAP_2" - no_errors RNASE11 122651 genome.wustl.edu 36 14 20121957 20121957 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20121957 20121957 T A SNP RNASE11 NM_145250 human genbank 54_36p -1 validated missense c.517 p.S173C 0 superfamily_RNase A-like superfamily_RNase A-like - no_errors RNASE12 493901 genome.wustl.edu 36 14 20128389 20128389 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20128389 20128389 C T SNP RNASE12 NM_001024822 human genbank 54_36p -1 provisional missense c.334 p.E112K 0 "superfamily_RNaseA,HMMPfam_RnaseA" "superfamily_RNaseA,HMMPfam_RnaseA" - no_errors RNASE2 6036 genome.wustl.edu 36 14 20493879 20493879 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20493879 20493879 T C SNP RNASE2 NM_002934 human genbank 54_36p 1 validated missense c.109 p.W37R 0.95 "superfamily_RNaseA,HMMSmart_RNAse_Pc,HMMPfam_RnaseA" "superfamily_RNaseA,HMMSmart_RNAse_Pc,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors METT11D1 64745 genome.wustl.edu 36 14 20534531 20534531 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20534531 20534531 G A SNP METT11D1 NM_001029991 human genbank 54_36p 1 validated silent c.1086 p.K362 0.5 HMMPfam_Rsm22 "HMMPfam_Rsm22,superfamily_SSF53335" - no_errors RPGRIP1 57096 genome.wustl.edu 36 14 20832711 20832711 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20832711 20832711 A G SNP RPGRIP1 NM_020366 human genbank 54_36p 1 reviewed missense c.121 p.M41V 0.9 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors CHD8 57680 genome.wustl.edu 36 14 20940373 20940373 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20940373 20940373 G C SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.3007 p.L1003V 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors CHD8 57680 genome.wustl.edu 36 14 20943240 20943240 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20943240 20943240 C T SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.2438 p.R813H 1 HMMPfam_SNF2_N "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors OR4E2 26686 genome.wustl.edu 36 14 21204039 21204039 + Silent SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 21204039 21204039 C G SNP OR4E2 NM_001001912 human genbank 54_36p 1 validated silent c.903 p.L301 0.69 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TRA@ 6955 genome.wustl.edu 36 14 22001981 22001981 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22001981 22001981 A C SNP TRA@ ENST00000390477 human ensembl 54_36p 1 known missense c.218 p.Q73P 0.91 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C14orf93 60686 genome.wustl.edu 36 14 22535179 22535179 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22535179 22535179 G C SNP C14orf93 NM_021944 human genbank 54_36p -1 validated missense c.736 p.L246V 1 NULL NULL - no_errors PSMB5 5693 genome.wustl.edu 36 14 22573899 22573899 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22573899 22573899 A T SNP PSMB5 NM_002797 human genbank 54_36p -1 reviewed missense c.32 p.L11Q 0.98 NULL "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors ACIN1 22985 genome.wustl.edu 36 14 22619588 22619588 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22619588 22619588 G C SNP ACIN1 NM_014977 human genbank 54_36p -1 validated missense c.970 p.P324A 0.94 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_RNA-binding domain RBD" - no_errors CEBPE 1053 genome.wustl.edu 36 14 22658083 22658083 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22658083 22658083 A T SNP CEBPE NM_001805 human genbank 54_36p -1 reviewed missense c.58 p.F20I 1 NULL "PatternScan_BZIP_BASIC,HMMSmart_BRLZ,HMMPfam_bZIP_2" - no_errors PABPN1 8106 genome.wustl.edu 36 14 22861342 22861342 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22861342 22861342 A G SNP PABPN1 NM_004643 human genbank 54_36p 1 reviewed missense c.464 p.N155S 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors PABPN1 8106 genome.wustl.edu 36 14 22863304 22863304 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22863304 22863304 G A SNP PABPN1 NM_004643 human genbank 54_36p 1 reviewed missense c.847 p.G283S 1 superfamily_RNA-binding domain RBD "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors IL25 64806 genome.wustl.edu 36 14 22914673 22914673 + Splice_Site SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22914673 22914673 G A SNP IL25 NM_022789 human genbank 54_36p 1 reviewed splice_site c.279-1 e2-1 1 - - - no_errors MYH6 4624 genome.wustl.edu 36 14 22926590 22926590 + Silent SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22926590 22926590 C G SNP MYH6 NM_002471 human genbank 54_36p -1 validated silent c.4638 p.L1546 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors MYH7 4625 genome.wustl.edu 36 14 22957352 22957352 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22957352 22957352 C T SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed missense c.4076 p.R1359H 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors DHRS4 10901 genome.wustl.edu 36 14 23494095 23494095 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23494095 23494095 C T SNP DHRS4 NM_021004 human genbank 54_36p 1 validated missense c.140 p.A47V 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors DHRS4L2 317749 genome.wustl.edu 36 14 23529369 23529369 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 23529369 23529369 T A SNP DHRS4L2 NM_198083 human genbank 54_36p 1 validated missense c.267 p.H89Q 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors CPNE6 9362 genome.wustl.edu 36 14 23616333 23616333 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23616333 23616333 C G SNP CPNE6 NM_006032 human genbank 54_36p 1 reviewed missense c.1430 p.S477C 0.99 "superfamily_vWA-like,HMMSmart_SM00327" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine" - no_errors PSME1 5720 genome.wustl.edu 36 14 23677155 23677155 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23677155 23677155 G T SNP PSME1 NM_176783 human genbank 54_36p 1 reviewed missense c.448 p.V150L 1 "superfamily_Prot_act_regA,HMMPfam_PA28_beta" "superfamily_Prot_act_regA,HMMPfam_PA28_alpha,HMMPfam_PA28_beta" - no_errors IRF9 10379 genome.wustl.edu 36 14 23702488 23702488 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23702488 23702488 G T SNP IRF9 NM_006084 human genbank 54_36p 1 validated missense c.426 p.R142S 0.01 NULL "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3" - no_errors TM9SF1 10548 genome.wustl.edu 36 14 23732000 23732000 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23732000 23732000 G A SNP TM9SF1 NM_006405 human genbank 54_36p -1 validated missense c.661 p.R221C 1 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors NYNRIN 57523 genome.wustl.edu 36 14 23947546 23947546 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23947546 23947546 C T SNP KIAA1305 NM_025081 human genbank 54_36p 1 validated missense c.830 p.P277L 0.47 NULL "superfamily_DNA/RNA polymerases,superfamily_Ribonuclease H-like" - no_errors CTSG 1511 genome.wustl.edu 36 14 24112714 24112714 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 24112714 24112714 T A SNP CTSG NM_001911 human genbank 54_36p -1 reviewed missense c.737 p.K246I 0 NULL "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors G2E3 55632 genome.wustl.edu 36 14 30128370 30128374 + Frame_Shift_Del DEL AAAGA AAAGA - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 AAAGA AAAGA AAAGA - AAAGA AAAGA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 30128370 30128374 AAAGA - DEL G2E3 NM_017769 human genbank 54_36p 1 validated frame_shift_del c.166_170 p.K56fs 0.997:1.000:1.000:1.000:1.000 NULL "HMMSmart_PHD,PatternScan_ZF_PHD_1,HMMSmart_RING,superfamily_HECT,HMMPfam_HECT" "(deletion:cds_exon[30128340,30128441])" no_errors HEATR5A 25938 genome.wustl.edu 36 14 30926116 30926116 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 30926116 30926116 C G SNP HEATR5A NM_015473 human genbank 54_36p -1 validated missense c.271 p.D91H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors ARHGAP5 394 genome.wustl.edu 36 14 31630296 31630296 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 31630296 31630296 G T SNP ARHGAP5 NM_001030055 human genbank 54_36p 1 reviewed missense c.670 p.V224L 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP5 394 genome.wustl.edu 36 14 31631046 31631046 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 31631046 31631046 G A SNP ARHGAP5 NM_001030055 human genbank 54_36p 1 reviewed missense c.1420 p.V474I 1 "HMMSmart_SM00441,superfamily_FF domain" "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AKAP6 9472 genome.wustl.edu 36 14 32363306 32363306 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 32363306 32363306 C G SNP AKAP6 NM_004274 human genbank 54_36p 1 reviewed missense c.6536 p.S2179C 0 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,PatternScan_PFKB_KINASES_2" - no_errors EAPP 55837 genome.wustl.edu 36 14 34068321 34068321 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 34068321 34068321 C G SNP EAPP NM_018453 human genbank 54_36p -1 reviewed missense c.464 p.R155T 1 HMMPfam_Eapp_C HMMPfam_Eapp_C - no_errors BAZ1A 11177 genome.wustl.edu 36 14 34401181 34401181 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 34401181 34401181 T A SNP BAZ1A NM_013448 human genbank 54_36p -1 validated missense c.212 p.E71V 1 HMMPfam_WAC_Acf1_DNA_bd "HMMPfam_WAC_Acf1_DNA_bd,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors PPP2R3C 55012 genome.wustl.edu 36 14 34634084 34634084 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 34634084 34634084 G A SNP PPP2R3C NM_017917 human genbank 54_36p -1 provisional missense c.896 p.S299L 1 superfamily_EF-hand "superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors RALGAPA1 253959 genome.wustl.edu 36 14 35078573 35078573 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 35078573 35078573 T C SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.6178 p.M2060V 1 NULL "superfamily_SSF111347,HMMPfam_Rap_GAP" - no_errors RALGAPA1 253959 genome.wustl.edu 36 14 35166288 35166288 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 35166288 35166288 C T SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.5098 p.G1700R 1 superfamily_SSF111347 "HMMPfam_Rap_GAP,superfamily_SSF111347" - no_errors PAX9 5083 genome.wustl.edu 36 14 36202291 36202291 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 36202291 36202291 C T SNP PAX9 NM_006194 human genbank 54_36p 1 validated missense c.443 p.P148L 1 NULL "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1" - no_errors CLEC14A 161198 genome.wustl.edu 36 14 37793534 37793534 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 37793534 37793534 T C SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.1445 p.E482G 0 NULL "PatternScan_EGF_1,PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMSmart_EGF,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors CLEC14A 161198 genome.wustl.edu 36 14 37794218 37794218 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 37794218 37794218 C A SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.761 p.G254V 0.01 "HMMSmart_EGF,superfamily_SSF57196" "PatternScan_ASX_HYDROXYL,HMMSmart_CLECT,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196" - no_errors SEC23A 10484 genome.wustl.edu 36 14 38581817 38581817 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 38581817 38581817 A G SNP SEC23A NM_006364 human genbank 54_36p -1 reviewed missense c.1910 p.L637P 1 "superfamily_SSF82754,HMMPfam_Gelsolin" "superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin" - no_errors LRFN5 145581 genome.wustl.edu 36 14 41430900 41430900 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 41430900 41430900 G C SNP LRFN5 NM_152447 human genbank 54_36p 1 validated missense c.2083 p.A695P 1 NULL "HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like" - no_errors FSCB 84075 genome.wustl.edu 36 14 44043813 44043813 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 44043813 44043813 C G SNP FSCB NM_032135 human genbank 54_36p -1 validated missense c.2128 p.E710Q 0.01 NULL NULL - no_errors RPL10L 140801 genome.wustl.edu 36 14 46190488 46190488 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 46190488 46190488 C T SNP RPL10L NM_080746 human genbank 54_36p -1 reviewed missense c.202 p.A68T 1 "superfamily_Ribosomal_L10e/L16,HMMPfam_Ribosomal_L16" "superfamily_Ribosomal_L10e/L16,HMMPfam_Ribosomal_L16,PatternScan_RIBOSOMAL_L10E" - no_errors SOS2 6655 genome.wustl.edu 36 14 49655211 49655211 + Silent SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49655211 49655211 C A SNP SOS2 NM_006939 human genbank 54_36p -1 validated silent c.3600 p.L1200 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SOS2 6655 genome.wustl.edu 36 14 49693585 49693585 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49693585 49693585 C G SNP SOS2 NM_006939 human genbank 54_36p -1 validated missense c.1939 p.E647Q 1 "HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF" ############################################################################################################################################################################################################################################################### - no_errors ATP5S 27109 genome.wustl.edu 36 14 49862185 49862185 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49862185 49862185 G A SNP ATP5S NM_001003803 human genbank 54_36p 1 reviewed silent c.642 p.L214 0.19 NULL superfamily_RNI-like - no_errors ATP5S 27109 genome.wustl.edu 36 14 49868648 49868648 + Silent SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49868648 49868648 G T SNP ATP5S ENST00000358473 human ensembl 54_36p 1 known silent c.645 p.L215 0 NULL NULL - no_errors NIN 51199 genome.wustl.edu 36 14 50291090 50291090 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 50291090 50291090 C T SNP NIN NM_020921 human genbank 54_36p -1 reviewed missense c.4675 p.E1559K 0.99 NULL "superfamily_EF-hand,HMMPfam_efhand" - no_errors FRMD6 122786 genome.wustl.edu 36 14 51264265 51264265 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 51264265 51264265 A G SNP FRMD6 NM_001042481 human genbank 54_36p 1 validated missense c.1613 p.D538G 1 NULL "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_SSF50729,HMMPfam_FERM_C" - no_errors NID2 22795 genome.wustl.edu 36 14 51604632 51604632 + Splice_Site SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 51604632 51604632 C G SNP NID2 NM_007361 human genbank 54_36p -1 validated splice_site c.229-1 e2-1 1 - - - no_errors PTGDR 5729 genome.wustl.edu 36 14 51804674 51804674 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 51804674 51804674 G T SNP PTGDR NM_000953 human genbank 54_36p 1 reviewed missense c.392 p.W131L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors DLGAP5 9787 genome.wustl.edu 36 14 54712398 54712398 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 54712398 54712398 A C SNP DLGAP5 NM_014750 human genbank 54_36p -1 provisional missense c.1141 p.C381G 0.01 HMMPfam_GKAP HMMPfam_GKAP - no_errors FBXO34 55030 genome.wustl.edu 36 14 54888821 54888821 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 54888821 54888821 T A SNP FBXO34 NM_017943 human genbank 54_36p 1 validated missense c.1960 p.Y654N 1 NULL "superfamily_SSF81383,HMMSmart_FBOX,HMMPfam_F-box" - no_errors OTX2 5015 genome.wustl.edu 36 14 56338774 56338774 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 56338774 56338774 T G SNP OTX2 NM_021728 human genbank 54_36p -1 reviewed missense c.326 p.Q109P 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_TF_Otx" - no_errors EXOC5 10640 genome.wustl.edu 36 14 56768188 56768188 + Splice_Site SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 56768188 56768188 T C SNP EXOC5 NM_006544 human genbank 54_36p -1 reviewed splice_site c.939-2 e11-2 1 - - - no_errors SLC35F4 341880 genome.wustl.edu 36 14 57133217 57133217 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 57133217 57133217 G T SNP SLC35F4 NM_001080455 human genbank 54_36p -1 inferred nonsense c.152 p.S51* 0 NULL "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6" - no_errors ARID4A 5926 genome.wustl.edu 36 14 57884344 57884344 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 57884344 57884344 C G SNP ARID4A NM_002892 human genbank 54_36p 1 reviewed missense c.1399 p.P467A 1 NULL "HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,HMMSmart_SM00298" - no_errors ARID4A 5926 genome.wustl.edu 36 14 57901182 57901182 + Silent SNP A A T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 57901182 57901182 A T SNP ARID4A NM_002892 human genbank 54_36p 1 reviewed silent c.2622 p.G874 0.95 NULL "HMMSmart_SM00298,HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00333,HMMPfam_RBB1NT" - no_errors C14orf149 112849 genome.wustl.edu 36 14 59015712 59015712 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59015712 59015712 C G SNP C14orf149 NM_144581 human genbank 54_36p -1 provisional missense c.619 p.A207P 1 "superfamily_Diaminopimelate epimerase-like,HMMPfam_Pro_racemase" "superfamily_Diaminopimelate epimerase-like,HMMPfam_Pro_racemase" - no_errors RTN1 6252 genome.wustl.edu 36 14 59263426 59263426 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59263426 59263426 C T SNP RTN1 NM_021136 human genbank 54_36p -1 reviewed missense c.1729 p.A577T 0 NULL "HMMPfam_Reticulon,PatternScan_HISTONE_H4" - no_errors RTN1 6252 genome.wustl.edu 36 14 59282307 59282307 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59282307 59282307 G T SNP RTN1 NM_021136 human genbank 54_36p -1 reviewed missense c.887 p.T296N 0.25 NULL "HMMPfam_Reticulon,PatternScan_HISTONE_H4" - no_errors DHRS7 51635 genome.wustl.edu 36 14 59685860 59685860 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59685860 59685860 C T SNP DHRS7 ENST00000360557 human ensembl 54_36p -1 known nonsense c.932 p.W311* 0.04 NULL "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors C14orf39 317761 genome.wustl.edu 36 14 59973399 59973399 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59973399 59973399 G C SNP C14orf39 NM_174978 human genbank 54_36p -1 validated missense c.1681 p.Q561E 1 NULL NULL - no_errors C14orf39 317761 genome.wustl.edu 36 14 59973446 59973446 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59973446 59973446 G A SNP C14orf39 NM_174978 human genbank 54_36p -1 validated missense c.1634 p.T545I 1 NULL NULL - no_errors SLC38A6 145389 genome.wustl.edu 36 14 60615398 60615398 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 14 60615398 60615398 G C SNP SLC38A6 ENST00000354886 human ensembl 54_36p 1 known missense c.1408 p.G470R 0 NULL HMMPfam_Aa_trans - no_errors KCNH5 27133 genome.wustl.edu 36 14 62486626 62486626 + Silent SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 62486626 62486626 C T SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed silent c.1347 p.S449 0.56 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors GPHB5 122876 genome.wustl.edu 36 14 62849570 62849570 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 62849570 62849570 T C SNP GPHB5 NM_145171 human genbank 54_36p -1 validated missense c.217 p.N73D 1 NULL NULL - no_errors SYNE2 23224 genome.wustl.edu 36 14 63527028 63527028 + Silent SNP A A G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 63527028 63527028 A G SNP SYNE2 NM_182914 human genbank 54_36p 1 validated silent c.2460 p.K820 0.99 NULL "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH" - no_errors SYNE2 23224 genome.wustl.edu 36 14 63750739 63750739 + Silent SNP T T G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 63750739 63750739 T G SNP SYNE2 NM_182914 human genbank 54_36p 1 validated silent c.19131 p.S6377 0.04 NULL "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors MTHFD1 4522 genome.wustl.edu 36 14 63956295 63956295 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 63956295 63956295 G C SNP MTHFD1 NM_005956 human genbank 54_36p 1 reviewed missense c.626 p.G209A 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_THF_DHG_CYH_C" ############################################################################################################################################################################################################################################################### - no_errors ZBTB1 22890 genome.wustl.edu 36 14 64059932 64059932 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64059932 64059932 A T SNP ZBTB1 ENST00000394712 human ensembl 54_36p 1 known missense c.1957 p.M653L 1 HMMSmart_ZnF_C2H2 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SPTB 6710 genome.wustl.edu 36 14 64309076 64309076 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64309076 64309076 C T SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.5528 p.R1843Q 0.99 "HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors GPX2 2877 genome.wustl.edu 36 14 64476019 64476019 + Silent SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64476019 64476019 G C SNP GPX2 NM_002083 human genbank 54_36p -1 reviewed silent c.513 p.R171 1 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2" - pseudogene RAB15 376267 genome.wustl.edu 36 14 64486834 64486834 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64486834 64486834 C A SNP RAB15 NM_198686 human genbank 54_36p -1 validated missense c.507 p.R169S 1 NULL "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1" - no_errors GPHN 10243 genome.wustl.edu 36 14 66595242 66595242 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66595242 66595242 T A SNP GPHN NM_020806 human genbank 54_36p 1 reviewed missense c.1130 p.I377N 1 "superfamily_MoeA_N,HMMPfam_MoeA_N" "superfamily_MoCF_biosynth,HMMPfam_MoCF_biosynth,PatternScan_MOCF_BIOSYNTHESIS_1,superfamily_MoeA_N,HMMPfam_MoeA_N,PatternScan_MOCF_BIOSYNTHESIS_2,superfamily_MoeA_C,HMMPfam_MoeA_C" - no_errors GPHN 10243 genome.wustl.edu 36 14 66705481 66705481 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66705481 66705481 C T SNP GPHN NM_020806 human genbank 54_36p 1 reviewed missense c.2054 p.P685L 1 superfamily_MoCF_biosynth "HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth,HMMPfam_MoeA_N,superfamily_MoeA_N,HMMPfam_MoeA_C,superfamily_MoeA_C,PatternScan_MOCF_BIOSYNTHESIS_1,PatternScan_MOCF_BIOSYNTHESIS_2" - no_errors MPP5 64398 genome.wustl.edu 36 14 66860274 66860274 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66860274 66860274 A T SNP MPP5 NM_022474 human genbank 54_36p 1 validated missense c.1843 p.N615Y 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072" ############################################################################################################################################################################################################################################################### - no_errors ATP6V1D 51382 genome.wustl.edu 36 14 66875111 66875111 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66875111 66875111 C T SNP ATP6V1D NM_015994 human genbank 54_36p -1 reviewed missense c.724 p.E242K 1 NULL HMMPfam_ATP-synt_D - no_errors PLEK2 26499 genome.wustl.edu 36 14 66931898 66931898 + Silent SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66931898 66931898 G A SNP PLEK2 NM_016445 human genbank 54_36p -1 provisional silent c.363 p.F121 1 superfamily_SSF50729 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP" - no_errors ZFYVE26 23503 genome.wustl.edu 36 14 67292496 67292496 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 67292496 67292496 C A SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.6708 p.K2236N 0.75 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors DCAF5 8816 genome.wustl.edu 36 14 68591701 68591701 + Silent SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 68591701 68591701 G T SNP WDR22 NM_003861 human genbank 54_36p -1 validated silent c.1455 p.P485 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like" - no_errors KIAA0247 9766 genome.wustl.edu 36 14 69247448 69247448 + Silent SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 69247448 69247448 G A SNP KIAA0247 NM_014734 human genbank 54_36p 1 validated silent c.911 p.*304 1 NULL "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors SLC8A3 6547 genome.wustl.edu 36 14 69588460 69588460 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 69588460 69588460 C A SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed missense c.2031 p.K677N 1 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_Na_Ca_ex" - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71125433 71125433 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 71125433 71125433 C G SNP SIPA1L1 NM_015556 human genbank 54_36p 1 provisional missense c.1091 p.S364C 0.99 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71155239 71155239 + Missense_Mutation SNP A G G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 71155239 71155239 A G SNP SIPA1L1 NM_015556 human genbank 54_36p 1 provisional missense c.1511 p.Y504C 1 superfamily_Rap/Ran-GAP (Pfam 02145) "HMMPfam_Rap_GAP,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_Rap/Ran-GAP (Pfam 02145)" - no_errors PAPLN 89932 genome.wustl.edu 36 14 72787459 72787459 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 72787459 72787459 C A SNP PAPLN NM_173462 human genbank 54_36p 1 validated missense c.557 p.A186E 0.89 HMMPfam_ADAM_spacer1 "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMSmart_KU,HMMPfam_Kunitz_BPTI,superfamily_Prot_inh_Kunz-m,PatternScan_BPTI_KUNITZ_1,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,HMMPfam_PLAC" - no_errors NUMB 8650 genome.wustl.edu 36 14 72813133 72813133 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 72813133 72813133 G A SNP NUMB NM_001005743 human genbank 54_36p -1 reviewed missense c.1862 p.A621V 1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,HMMPfam_NumbF" - no_errors PNMA1 9240 genome.wustl.edu 36 14 73249466 73249466 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 73249466 73249466 G A SNP PNMA1 NM_006029 human genbank 54_36p -1 validated silent c.630 p.A210 0.33 NULL NULL - no_errors C14orf43 91748 genome.wustl.edu 36 14 73275140 73275140 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 73275140 73275140 C G SNP C14orf43 NM_001043318 human genbank 54_36p -1 validated missense c.1325 p.C442S 0.94 NULL "HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors VSX2 338917 genome.wustl.edu 36 14 73781670 73781670 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 73781670 73781670 G A SNP VSX2 NM_182894 human genbank 54_36p 1 validated missense c.505 p.E169K 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors KIAA0317 9870 genome.wustl.edu 36 14 74219932 74219932 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74219932 74219932 G A SNP KIAA0317 NM_001039479 human genbank 54_36p -1 validated missense c.301 p.H101Y 1 superfamily_E set domains "superfamily_E set domains,HMMPfam_Filamin,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors RPS6KL1 83694 genome.wustl.edu 36 14 74443539 74443539 + Silent SNP T T C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74443539 74443539 T C SNP RPS6KL1 NM_031464 human genbank 54_36p -1 validated silent c.1488 p.E496 0.99 "superfamily_Kinase_like,HMMPfam_Pkinase" "HMMSmart_MIT,HMMPfam_MIT,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors FOS 2353 genome.wustl.edu 36 14 74817470 74817470 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74817470 74817470 A C SNP FOS NM_005252 human genbank 54_36p 1 reviewed missense c.733 p.N245H 0 NULL "HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC" - no_errors BATF 10538 genome.wustl.edu 36 14 75061284 75061284 + Silent SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 75061284 75061284 G C SNP BATF NM_006399 human genbank 54_36p 1 reviewed silent c.168 p.L56 1 "HMMPfam_bZIP_1,HMMSmart_BRLZ" "HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC" - no_errors TTLL5 23093 genome.wustl.edu 36 14 75319416 75319416 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 75319416 75319416 C T SNP TTLL5 NM_015072 human genbank 54_36p 1 validated missense c.2776 p.P926S 0.36 NULL "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors ESRRB 2103 genome.wustl.edu 36 14 75975583 75975583 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 75975583 75975583 T C SNP ESRRB NM_004452 human genbank 54_36p 1 reviewed missense c.134 p.F45S 1 NULL "superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors SNW1 22938 genome.wustl.edu 36 14 77273125 77273125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 77273125 77273125 G C SNP SNW1 NM_012245 human genbank 54_36p -1 reviewed missense c.580 p.Q194E 1 HMMPfam_SKIP_SNW HMMPfam_SKIP_SNW - no_errors C14orf178 283579 genome.wustl.edu 36 14 77305763 77305763 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 77305763 77305763 G T SNP C14orf178 NM_174943 human genbank 54_36p 1 predicted missense c.358 p.A120S 0 NULL NULL - no_errors NRXN3 9369 genome.wustl.edu 36 14 77779249 77779249 + Silent SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 77779249 77779249 C G SNP NRXN3 ENST00000330071 human ensembl 54_36p 1 known silent c.60 p.S20 0.46 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_SM00294" - no_errors TSHR 7253 genome.wustl.edu 36 14 80679090 80679090 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 80679090 80679090 G C SNP TSHR NM_000369 human genbank 54_36p 1 reviewed missense c.935 p.R312T 0.96 superfamily_L domain-like "superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SEL1L 6400 genome.wustl.edu 36 14 81034573 81034573 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 81034573 81034573 C T SNP SEL1L NM_005065 human genbank 54_36p -1 validated missense c.910 p.G304S 1 "superfamily_HCP-like,HMMPfam_Sel1,HMMSmart_SM00671" "superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like" - no_errors FLRT2 23768 genome.wustl.edu 36 14 85158757 85158757 + Silent SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 85158757 85158757 G A SNP FLRT2 NM_013231 human genbank 54_36p 1 reviewed silent c.1146 p.Q382 0 NULL "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors FLRT2 23768 genome.wustl.edu 36 14 85159438 85159438 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 85159438 85159438 C T SNP FLRT2 NM_013231 human genbank 54_36p 1 reviewed silent c.1827 p.I609 1 NULL "HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058" - no_errors KCNK10 54207 genome.wustl.edu 36 14 87799467 87799467 + Silent SNP A A C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 87799467 87799467 A C SNP KCNK10 NM_138317 human genbank 54_36p -1 reviewed silent c.234 p.V78 1 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" - no_errors SPATA7 55812 genome.wustl.edu 36 14 87952878 87952878 + Silent SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 87952878 87952878 T G SNP SPATA7 NM_018418 human genbank 54_36p 1 validated silent c.309 p.T103 0.15 NULL NULL - no_errors EML5 161436 genome.wustl.edu 36 14 88275019 88275019 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 88275019 88275019 T C SNP EML5 NM_183387 human genbank 54_36p -1 validated silent c.804 p.P268 1 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "HMMPfam_HELP,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors FOXN3 1112 genome.wustl.edu 36 14 88698683 88698683 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 88698683 88698683 G A SNP FOXN3 NM_001085471 human genbank 54_36p -1 reviewed missense c.1301 p.T434I 1 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors TDP1 55775 genome.wustl.edu 36 14 89499549 89499552 + Frame_Shift_Del DEL AGAA AGAA - novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 AGAA AGAA AGAA - AGAA AGAA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 89499549 89499552 AGAA - DEL TDP1 NM_001008744 human genbank 54_36p 1 reviewed frame_shift_del c.338_341 p.K114fs 0.643:0.282:0.061:0.048 NULL "superfamily_SSF56024,HMMPfam_Tyr-DNA_phospho" "(deletion:cds_exon[89499212,89499770])" no_errors C14orf102 55051 genome.wustl.edu 36 14 89854202 89854202 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 89854202 89854202 A C SNP C14orf102 NM_017970 human genbank 54_36p -1 validated missense c.73 p.W25G 1 NULL "superfamily_Prenyl_trans,HMMPfam_DUF1740" - no_errors TTC7B 145567 genome.wustl.edu 36 14 90266244 90266244 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90266244 90266244 G T SNP TTC7B NM_001010854 human genbank 54_36p -1 provisional missense c.626 p.P209H 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors RPS6KA5 9252 genome.wustl.edu 36 14 90456321 90456321 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90456321 90456321 G C SNP RPS6KA5 NM_004755 human genbank 54_36p -1 validated missense c.788 p.S263C 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors CCDC88C 440193 genome.wustl.edu 36 14 90841994 90841994 + Silent SNP C G G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90841994 90841994 C G SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated silent c.3225 p.L1075 1 NULL superfamily_Prefoldin - no_errors CCDC88C 440193 genome.wustl.edu 36 14 90849506 90849506 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90849506 90849506 G C SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.2407 p.L803V 0.89 NULL superfamily_Prefoldin - no_errors SMEK1 55671 genome.wustl.edu 36 14 91001386 91001386 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91001386 91001386 C A SNP SMEK1 NM_032560 human genbank 54_36p -1 validated missense c.1752 p.M584I 1 NULL "superfamily_SSF50729,HMMPfam_DUF625,superfamily_ARM-type_fold" - no_errors FBLN5 10516 genome.wustl.edu 36 14 91417405 91417405 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91417405 91417405 G C SNP FBLN5 NM_006329 human genbank 54_36p -1 reviewed missense c.973 p.L325V 1 "HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin" "superfamily_EGF/Laminin,HMMPfam_EGF_CA,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors TRIP11 9321 genome.wustl.edu 36 14 91510766 91510766 + Silent SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91510766 91510766 G C SNP TRIP11 NM_004239 human genbank 54_36p -1 validated silent c.5532 p.P1844 1 NULL NULL - no_errors TRIP11 9321 genome.wustl.edu 36 14 91510767 91510767 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91510767 91510767 G C SNP TRIP11 NM_004239 human genbank 54_36p -1 validated missense c.5531 p.P1844R 1 NULL NULL - no_errors TRIP11 9321 genome.wustl.edu 36 14 91542437 91542437 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91542437 91542437 G A SNP TRIP11 NM_004239 human genbank 54_36p -1 validated missense c.1636 p.L546F 0.32 NULL NULL - no_errors CPSF2 53981 genome.wustl.edu 36 14 91697797 91697797 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91697797 91697797 T G SNP CPSF2 NM_017437 human genbank 54_36p 1 validated missense c.2305 p.Y769D 1 NULL "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL" - no_errors SLC24A4 123041 genome.wustl.edu 36 14 92022774 92022774 + Silent SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 92022774 92022774 C T SNP SLC24A4 NM_153646 human genbank 54_36p 1 validated silent c.1383 p.I461 1 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex - no_errors KIAA1409 57578 genome.wustl.edu 36 14 93149139 93149139 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 93149139 93149139 G A SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.3467 p.R1156H 1 NULL NULL - no_errors KIAA1409 57578 genome.wustl.edu 36 14 93190066 93190066 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 93190066 93190066 C T SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.5810 p.S1937L 1 NULL NULL - no_errors OTUB2 78990 genome.wustl.edu 36 14 93580777 93580777 + Silent SNP G G T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 93580777 93580777 G T SNP OTUB2 NM_023112 human genbank 54_36p 1 validated silent c.396 p.V132 1 "HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases" "HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases" - no_errors DDX24 57062 genome.wustl.edu 36 14 93598574 93598574 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 93598574 93598574 C G SNP DDX24 NM_020414 human genbank 54_36p -1 reviewed missense c.865 p.G289R 0 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors SERPINA10 51156 genome.wustl.edu 36 14 93820080 93820080 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 93820080 93820080 C A SNP SERPINA10 NM_001100607 human genbank 54_36p -1 validated missense c.1310 p.R437M 1 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "PatternScan_SERPIN,superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" - no_errors SERPINA5 5104 genome.wustl.edu 36 14 94128255 94128255 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 94128255 94128255 G A SNP SERPINA5 NM_000624 human genbank 54_36p 1 validated missense c.1147 p.V383M 0 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors DICER1 23405 genome.wustl.edu 36 14 94644433 94644433 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 94644433 94644433 G A SNP DICER1 NM_030621 human genbank 54_36p -1 reviewed missense c.2417 p.T806M 1 NULL ############################################################################################################################################################################################################################################################### - no_errors TCL1B 9623 genome.wustl.edu 36 14 95226939 95226939 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 95226939 95226939 C T SNP TCL1B NM_004918 human genbank 54_36p 1 validated silent c.276 p.P92 0 "HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1" "HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1" - no_errors BDKRB2 624 genome.wustl.edu 36 14 95777499 95777499 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 95777499 95777499 A T SNP BDKRB2 NM_000623 human genbank 54_36p 1 reviewed missense c.1081 p.I361F 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors BDKRB2 624 genome.wustl.edu 36 14 95777581 95777581 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 95777581 95777581 G A SNP BDKRB2 NM_000623 human genbank 54_36p 1 reviewed missense c.1163 p.G388E 0 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors uc003vxi.2 0 genome.wustl.edu 36 7 141667577 141667577 + Silent SNP T T C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141667577 141667577 T C SNP uc003vxi.2 ENST00000390352 human ensembl 54_36p 1 known silent c.72 p.T24 0 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region uc003vyo.2 0 genome.wustl.edu 36 7 141838407 141838407 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141838407 141838407 C A SNP uc003vyo.2 ENST00000390371 human ensembl 54_36p 1 known missense c.266 p.T89N 0 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211729 0 genome.wustl.edu 36 7 141876211 141876211 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141876211 141876211 A G SNP ENSG00000211729 ENST00000390376 human ensembl 54_36p 1 known missense c.272 p.D91G 0 "superfamily_SSF48726,HMMPfam_V-set" "superfamily_SSF48726,HMMPfam_V-set" - no_stop_codon:bad_bp_length_for_coding_region uc003vzj.1 0 genome.wustl.edu 36 7 141952571 141952571 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141952571 141952571 A G SNP uc003vzj.1 ENST00000390387 human ensembl 54_36p 1 known missense c.74 p.Q25R 0.75 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region LOC401131 401131 genome.wustl.edu 36 1 142051456 142051456 + RNA SNP A A C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 142051456 142051456 A C SNP LOC401131 XR_017704 human genbank 54_36p -1 model rna NULL NULL 0.85 - - - no_errors uc003wae.2 0 genome.wustl.edu 36 7 142108338 142108338 + Silent SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142108338 142108338 T C SNP uc003wae.2 ENST00000390400 human ensembl 54_36p 1 known silent c.117 p.F39 0 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000208891 0 genome.wustl.edu 36 4 142438465 142438465 + RNA SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 142438465 142438465 C G SNP ENSG00000208891 ENST00000386156 human ensembl 54_36p -1 novel rna NULL NULL 0 - - - pseudogene PDIA3P 171423 genome.wustl.edu 36 1 145116736 145116736 + RNA SNP G G T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145116736 145116736 G T SNP PDIA3P NR_002305 human genbank 54_36p 1 provisional rna NULL NULL 0 - - - pseudogene LOC100128116 100128116 genome.wustl.edu 36 5 146067018 146067018 + RNA SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 146067018 146067018 C G SNP LOC100128116 XR_039194 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene MIR513A1 574509 genome.wustl.edu 36 X 146102784 146102784 + RNA SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 146102784 146102784 G T SNP MIRN513A1 ENST00000385138 human ensembl 54_36p -1 known rna NULL NULL 0.3 - - - no_errors uc002goi.1 0 genome.wustl.edu 36 17 14623918 14623918 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 14623918 14623918 A T SNP uc002goi.1 ENST00000379640 human ensembl 54_36p -1 known nonsense c.294 p.C98* 0 NULL NULL - no_errors LOC100131547 100131547 genome.wustl.edu 36 12 14658721 14658721 + Splice_Site SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 12 14658721 14658721 A G SNP LOC100131547 XM_001722468 human genbank 54_36p 1 model splice_site c.109-2 e3-2 0 - - - no_errors PABPC1P2 728773 genome.wustl.edu 36 2 147062247 147062247 + Silent SNP T T C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 147062247 147062247 T C SNP PABPCP2 ENST00000359464 human ensembl 54_36p 1 known silent c.237 p.N79 0.53 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors PABPC1P2 728773 genome.wustl.edu 36 2 147062571 147062571 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 147062571 147062571 A C SNP PABPCP2 ENST00000359464 human ensembl 54_36p 1 known missense c.561 p.L187F 1 superfamily_SSF54928 "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors DRD5P2 1818 genome.wustl.edu 36 1 147170059 147170059 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 147170059 147170059 G A SNP DRD5P2 ENST00000331689 human ensembl 54_36p 1 known missense c.442 p.A148T 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_start_codon:no_stop_codon LOC643438 643438 genome.wustl.edu 36 7 147965567 147965567 + RNA SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 147965567 147965567 C T SNP LOC643438 XR_015310 human genbank 54_36p 1 model rna NULL NULL 1 - - - no_errors uc003wgu.1 0 genome.wustl.edu 36 7 149614437 149614437 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 149614437 149614437 G T SNP uc003wgu.1 ENST00000252071 human ensembl 54_36p -1 known missense c.423 p.D141E 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268" - no_errors TARSL2 123283 genome.wustl.edu 36 15 100043728 100043728 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 100043728 100043728 G A SNP TARSL2 NM_152334 human genbank 54_36p -1 validated missense c.1381 p.L461F 1 "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b" "HMMPfam_TGS,superfamily_TGS-like,superfamily_ThrRS/AlaRS common domain,HMMPfam_tRNA_SAD,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors OR4F6 390648 genome.wustl.edu 36 15 100163773 100163773 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 100163773 100163773 A T SNP OR4F6 NM_001005326 human genbank 54_36p 1 provisional missense c.328 p.T110S 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4G2P 26680 genome.wustl.edu 36 15 100285023 100285023 + Silent SNP A G G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 100285023 100285023 A G SNP OR4G2P ENST00000328113 human ensembl 54_36p -1 known silent c.345 p.N115 0.03 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RHPN2P1 646090 genome.wustl.edu 36 15 18693880 18693880 + RNA SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18693880 18693880 C G SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene RHPN2P1 646090 genome.wustl.edu 36 15 18694021 18694021 + RNA SNP T T A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18694021 18694021 T A SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RHPN2P1 646090 genome.wustl.edu 36 15 18722625 18722625 + RNA SNP C C G novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18722625 18722625 C G SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC646139 646139 genome.wustl.edu 36 15 18981653 18981653 + RNA SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 18981653 18981653 C A SNP LOC646139 XR_037550 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000181984 0 genome.wustl.edu 36 15 19037934 19037934 + Silent SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 19037934 19037934 G A SNP ENSG00000181984 ENST00000318268 human ensembl 54_36p 1 known silent c.1650 p.V550 0 NULL NULL - no_errors OR4M2 390538 genome.wustl.edu 36 15 19870123 19870123 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19870123 19870123 C A SNP OR4M2 NM_001004719 human genbank 54_36p 1 provisional missense c.184 p.L62M 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR4N4 283694 genome.wustl.edu 36 15 19884234 19884234 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19884234 19884234 C A SNP OR4N4 NM_001005241 human genbank 54_36p 1 provisional nonsense c.398 p.S133* 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4N4 283694 genome.wustl.edu 36 15 19884684 19884684 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19884684 19884684 A T SNP OR4N4 NM_001005241 human genbank 54_36p 1 provisional missense c.848 p.N283I 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC388076 388076 genome.wustl.edu 36 15 19941744 19941744 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19941744 19941744 G A SNP LOC388076 XM_931016 human genbank 54_36p -1 model missense c.467 p.A156V 1 HMMPfam_Ribosomal_S8e HMMPfam_Ribosomal_S8e - pseudogene LOC388076 388076 genome.wustl.edu 36 15 19941836 19941836 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19941836 19941836 C G SNP LOC388076 XM_931016 human genbank 54_36p -1 model missense c.375 p.K125N 1 HMMPfam_Ribosomal_S8e HMMPfam_Ribosomal_S8e - pseudogene CYFIP1 23191 genome.wustl.edu 36 15 20481213 20481213 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 20481213 20481213 G A SNP CYFIP1 NM_014608 human genbank 54_36p 1 validated missense c.446 p.R149K 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20520687 20520687 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 20520687 20520687 G A SNP CYFIP1 NM_014608 human genbank 54_36p 1 validated missense c.2472 p.M824I 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors SNRPN 6638 genome.wustl.edu 36 15 22774522 22774522 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 22774522 22774522 C G SNP SNRPN NM_003097 human genbank 54_36p 1 reviewed missense c.649 p.P217A 1 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors SNORD116-6 100033418 genome.wustl.edu 36 15 22861302 22861302 + RNA DEL G G - novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G - G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 22861302 22861302 G - DEL SNORD116-6 NR_003321 human genbank 54_36p 1 provisional rna NULL NULL 1 - - "(deletion:rna[22861265,22861362])" no_errors GABRA5 2558 genome.wustl.edu 36 15 24679590 24679590 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 24679590 24679590 A T SNP GABRA5 ENST00000335625 human ensembl 54_36p 1 known missense c.290 p.D97V 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors OCA2 4948 genome.wustl.edu 36 15 25674149 25674149 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 25674149 25674149 C A SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed missense c.2497 p.V833L 0.57 NULL HMMPfam_CitMHS - no_errors HERC2 8924 genome.wustl.edu 36 15 26110869 26110869 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26110869 26110869 G C SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.8284 p.R2762G 1 superfamily_Galactose-binding domain-like ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 genome.wustl.edu 36 15 26132886 26132886 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26132886 26132886 G A SNP HERC2 NM_004667 human genbank 54_36p -1 validated silent c.6486 p.L2162 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 genome.wustl.edu 36 15 26184666 26184666 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26184666 26184666 C T SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.1648 p.G550R 1 "HMMPfam_RCC1,superfamily_RCC1/BLIP-II" ############################################################################################################################################################################################################################################################### - no_errors LOC653720 653720 genome.wustl.edu 36 15 26752020 26752020 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26752020 26752020 C T SNP LOC653720 XM_001724258 human genbank 54_36p -1 model missense c.506 p.R169H 0.82 NULL NULL - no_errors TJP1 7082 genome.wustl.edu 36 15 27799406 27799406 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 27799406 27799406 T A SNP TJP1 NM_003257 human genbank 54_36p -1 validated missense c.2870 p.E957V 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C,HMMPfam_ZU5,HMMSmart_SM00218" - no_errors LOC400347 400347 genome.wustl.edu 36 15 29533346 29533346 + RNA SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 29533346 29533346 G A SNP LOC400347 XR_016518 human genbank 54_36p -1 model rna NULL NULL 0.48 - - - pseudogene CHRNA7 1139 genome.wustl.edu 36 15 30237995 30237995 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 30237995 30237995 C T SNP CHRNA7 NM_000746 human genbank 54_36p 1 reviewed missense c.689 p.T230M 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,superfamily_Neu_channel_TM" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors RYR3 6263 genome.wustl.edu 36 15 31837038 31837038 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 31837038 31837038 C A SNP RYR3 NM_001036 human genbank 54_36p 1 validated missense c.8654 p.P2885H 1 NULL "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors ZNF770 54989 genome.wustl.edu 36 15 33061340 33061340 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 33061340 33061340 G A SNP ZNF770 NM_014106 human genbank 54_36p -1 validated missense c.1588 p.P530S 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MEIS2 4212 genome.wustl.edu 36 15 35177473 35177473 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 35177473 35177473 C T SNP MEIS2 NM_170675 human genbank 54_36p -1 reviewed missense c.232 p.D78N 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors FAM98B 283742 genome.wustl.edu 36 15 36544776 36544776 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 36544776 36544776 G C SNP FAM98B NM_173611 human genbank 54_36p 1 validated missense c.232 p.E78Q 1 HMMPfam_DUF2465 HMMPfam_DUF2465 - no_errors RASGRP1 10125 genome.wustl.edu 36 15 36591122 36591122 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 36591122 36591122 G A SNP RASGRP1 NM_005739 human genbank 54_36p -1 reviewed missense c.941 p.S314L 1 "superfamily_Ras GEF,HMMPfam_RasGEF,HMMSmart_SM00147" "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" - no_errors FSIP1 161835 genome.wustl.edu 36 15 37843406 37843406 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 37843406 37843406 G T SNP FSIP1 NM_152597 human genbank 54_36p -1 validated missense c.467 p.S156Y 0.14 NULL NULL - no_errors BUB1B 701 genome.wustl.edu 36 15 38297101 38297101 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38297101 38297101 C T SNP BUB1B NM_001211 human genbank 54_36p 1 validated missense c.2791 p.R931W 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMPfam_Mad3_BUB1_I,HMMSmart_SM00777" - no_errors PLCB2 5330 genome.wustl.edu 36 15 38382800 38382800 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38382800 38382800 T G SNP PLCB2 NM_004573 human genbank 54_36p -1 validated missense c.212 p.K71T 1 NULL "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors C15orf23 90417 genome.wustl.edu 36 15 38471498 38471498 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 38471498 38471498 G A SNP C15orf23 NM_033286 human genbank 54_36p 1 validated silent c.804 p.K268 1 NULL NULL - no_errors IVD 3712 genome.wustl.edu 36 15 38487138 38487138 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 38487138 38487138 A G SNP IVD NM_002225 human genbank 54_36p 1 reviewed missense c.154 p.T52A 1 "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N" "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2" - no_errors C15orf57 90416 genome.wustl.edu 36 15 38642302 38642302 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38642302 38642302 C G SNP C15orf57 NM_001080791 human genbank 54_36p -1 validated missense c.232 p.A78P 1 NULL NULL - no_errors GCHFR 2644 genome.wustl.edu 36 15 38846742 38846742 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38846742 38846742 C T SNP GCHFR NM_005258 human genbank 54_36p 1 reviewed missense c.158 p.P53L 1 "HMMPfam_GFRP,superfamily_GTP cyclohydrolase I feedback regulatory protein GFRP" "HMMPfam_GFRP,superfamily_GTP cyclohydrolase I feedback regulatory protein GFRP" - no_errors SPINT1 6692 genome.wustl.edu 36 15 38933038 38933038 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38933038 38933038 G C SNP SPINT1 NM_181642 human genbank 54_36p 1 reviewed missense c.663 p.Q221H 1 NULL "HMMPfam_MANEC,HMMSmart_SM00765,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors VPS18 57617 genome.wustl.edu 36 15 38980364 38980364 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38980364 38980364 G A SNP VPS18 NM_020857 human genbank 54_36p 1 reviewed missense c.2056 p.A686T 1 superfamily_ARM repeat "HMMPfam_Pep3_Vps18,superfamily_ARM repeat" - no_errors NDUFAF1 51103 genome.wustl.edu 36 15 39474438 39474438 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39474438 39474438 T G SNP NDUFAF1 NM_016013 human genbank 54_36p -1 validated missense c.670 p.K224Q 0.01 HMMPfam_CIA30 HMMPfam_CIA30 - no_errors RTF1 23168 genome.wustl.edu 36 15 39559776 39559776 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39559776 39559776 G C SNP RTF1 NM_015138 human genbank 54_36p 1 validated missense c.1612 p.D538H 1 NULL "HMMSmart_Plus3,HMMPfam_Plus-3" - no_errors TYRO3 7301 genome.wustl.edu 36 15 39657412 39657412 + Silent SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39657412 39657412 C G SNP TYRO3 NM_006293 human genbank 54_36p 1 provisional silent c.2319 p.P773 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors MGA 23269 genome.wustl.edu 36 15 39776435 39776435 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39776435 39776435 C A SNP MGA NM_001080541 human genbank 54_36p 1 provisional missense c.1935 p.S645R 0.05 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_2,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353" - no_errors MGA 23269 genome.wustl.edu 36 15 39828708 39828709 + Frame_Shift_Ins INS - - A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 - - - A - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 39828708 39828709 - A INS MGA NM_001080541 human genbank 54_36p 1 provisional frame_shift_ins c.5758_5759 p.V1920fs 1.000:1.000 NULL "HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2" - no_errors EHD4 30844 genome.wustl.edu 36 15 40033268 40033268 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40033268 40033268 G A SNP EHD4 NM_139265 human genbank 54_36p -1 provisional silent c.399 p.N133 1 "superfamily_SSF52540,HMMPfam_Dynamin_N" "superfamily_SSF52540,HMMPfam_Dynamin_N,superfamily_SSF47473,HMMSmart_EH,PatternScan_EF_HAND_1" - no_errors PLA2G4F 255189 genome.wustl.edu 36 15 40223586 40223586 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40223586 40223586 C G SNP PLA2G4F NM_213600 human genbank 54_36p -1 provisional missense c.2024 p.C675S 0.83 "HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" - no_errors TMEM87A 25963 genome.wustl.edu 36 15 40316920 40316920 + Splice_Site SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40316920 40316920 A T SNP TMEM87A NM_015497 human genbank 54_36p -1 validated splice_site c.868+2 e9+2 1 - - - no_errors ZFP106 64397 genome.wustl.edu 36 15 40529814 40529814 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40529814 40529814 C T SNP ZFP106 NM_022473 human genbank 54_36p -1 provisional missense c.1879 p.E627K 0 NULL "PatternScan_WD_REPEATS_1,HMMSmart_ZnF_C2H2,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMSmart_PQQ,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CDAN1 146059 genome.wustl.edu 36 15 40804705 40804705 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40804705 40804705 C G SNP CDAN1 NM_138477 human genbank 54_36p -1 validated missense c.3487 p.E1163Q 0.96 NULL NULL - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41455704 41455704 + Silent SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41455704 41455704 T C SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional silent c.195 p.H65 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41459634 41459634 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41459634 41459634 G A SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional missense c.502 p.V168I 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41476736 41476736 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41476736 41476736 A C SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional missense c.1204 p.K402Q 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors MAP1A 4130 genome.wustl.edu 36 15 41607649 41607649 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 41607649 41607649 C T SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed missense c.6686 p.S2229L 0.99 NULL superfamily_Metallo-hydrolase/oxidoreductase - no_errors PDIA3 2923 genome.wustl.edu 36 15 41845419 41845419 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41845419 41845419 G T SNP PDIA3 NM_005313 human genbank 54_36p 1 reviewed missense c.762 p.L254F 1 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors ELL3 80237 genome.wustl.edu 36 15 41853752 41853752 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41853752 41853752 G A SNP ELL3 NM_025165 human genbank 54_36p -1 validated missense c.958 p.R320C 0.86 HMMPfam_Occludin_ELL "HMMPfam_ELL,HMMPfam_Occludin_ELL" - no_errors SPG11 80208 genome.wustl.edu 36 15 42740027 42740027 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 42740027 42740027 G A SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed silent c.337 p.L113 0.99 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors B2M 567 genome.wustl.edu 36 15 42791037 42791037 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 42791037 42791037 A G SNP B2M NM_004048 human genbank 54_36p 1 validated missense c.1 p.M1V 0.06 NULL "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors DUOXA1 90527 genome.wustl.edu 36 15 43197528 43197528 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43197528 43197528 C T SNP DUOXA1 NM_144565 human genbank 54_36p -1 provisional silent c.1023 p.A341 0 NULL HMMPfam_DuoxA - no_errors SHF 90525 genome.wustl.edu 36 15 43251793 43251793 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43251793 43251793 G T SNP SHF NM_138356 human genbank 54_36p -1 validated missense c.809 p.P270Q 0.99 NULL "superfamily_Nucleotidylyl transferase,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43341525 43341525 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43341525 43341525 G A SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.191 p.S64N 0.02 NULL "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43342663 43342663 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43342663 43342663 G C SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.375 p.K125N 0.01 NULL "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43347163 43347163 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 43347163 43347163 C T SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.1076 p.A359V 1 NULL "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SPATA5L1 79029 genome.wustl.edu 36 15 43500622 43500622 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43500622 43500622 G A SNP SPATA5L1 NM_024063 human genbank 54_36p 1 provisional silent c.2184 p.P728 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors C15orf48 84419 genome.wustl.edu 36 15 43510545 43510545 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43510545 43510545 G C SNP C15orf48 NM_032413 human genbank 54_36p 1 validated missense c.91 p.A31P 0 HMMPfam_NADH_ub_rd_NUML HMMPfam_NADH_ub_rd_NUML - no_errors LOC644029 644029 genome.wustl.edu 36 15 45809615 45809615 + RNA SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 45809615 45809615 C T SNP LOC644029 XR_017397 human genbank 54_36p -1 model rna NULL NULL 0.83 - - - pseudogene MYEF2 50804 genome.wustl.edu 36 15 46245454 46245454 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 46245454 46245454 C G SNP MYEF2 NM_016132 human genbank 54_36p -1 validated missense c.493 p.D165H 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors SLC12A1 6557 genome.wustl.edu 36 15 46308807 46308807 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 46308807 46308807 A T SNP SLC12A1 NM_000338 human genbank 54_36p 1 validated missense c.854 p.D285V 1 HMMPfam_AA_permease "HMMPfam_AA_permease_N,HMMPfam_AA_permease" - no_errors FBN1 2200 genome.wustl.edu 36 15 46500294 46500294 + Silent SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 46500294 46500294 G A SNP FBN1 NM_000138 human genbank 54_36p -1 reviewed silent c.7701 p.D2567 1 "superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179" ############################################################################################################################################################################################################################################################### - no_errors SHC4 399694 genome.wustl.edu 36 15 46914506 46914506 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 46914506 46914506 G T SNP SHC4 NM_203349 human genbank 54_36p -1 validated missense c.1489 p.P497T 1 superfamily_SH2 domain "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors C15orf33 196951 genome.wustl.edu 36 15 47621290 47621290 + Silent SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 47621290 47621290 A G SNP C15orf33 NM_152647 human genbank 54_36p -1 validated silent c.753 p.Y251 0.99 NULL NULL - no_errors ATP8B4 79895 genome.wustl.edu 36 15 48052207 48052207 + Silent SNP T T A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 48052207 48052207 T A SNP ATP8B4 NM_024837 human genbank 54_36p -1 validated silent c.1107 p.A369 0.14 superfamily_SSF81665 "superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3" - no_errors GABPB1 2553 genome.wustl.edu 36 15 48383548 48383549 + Missense_Mutation DNP AC TA TA novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 AC AC TA TA AC AC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 48383548 48383549 AC TA DNP GABPB1 NM_005254 human genbank 54_36p -1 reviewed missense c.183_182 p.G61V 0.997:1.000 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors GLDN 342035 genome.wustl.edu 36 15 49474451 49474451 + Silent SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49474451 49474451 C T SNP GLDN NM_181789 human genbank 54_36p 1 validated silent c.669 p.S223 1 NULL "HMMPfam_Collagen,HMMPfam_OLF,HMMSmart_SM00284" - no_errors DMXL2 23312 genome.wustl.edu 36 15 49582396 49582396 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49582396 49582396 A G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.2891 p.L964P 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DMXL2 23312 genome.wustl.edu 36 15 49615243 49615243 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49615243 49615243 A G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.2345 p.F782S 1 HMMSmart_SM00320 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors DMXL2 23312 genome.wustl.edu 36 15 49617139 49617139 + Silent SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49617139 49617139 T G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated silent c.1455 p.P485 0.95 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors SCG3 29106 genome.wustl.edu 36 15 49761280 49761280 + Silent SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 49761280 49761280 G C SNP SCG3 NM_013243 human genbank 54_36p 1 reviewed silent c.36 p.V12 1 NULL NULL - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359091 50359091 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50359091 50359091 C T SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.211 p.D71N 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359100 50359100 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50359100 50359100 C T SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.202 p.G68S 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359104 50359104 + Silent SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50359104 50359104 G A SNP MYO5C NM_018728 human genbank 54_36p -1 validated silent c.198 p.L66 0.99 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO5A 4644 genome.wustl.edu 36 15 50505448 50505448 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50505448 50505448 G C SNP MYO5A NM_000259 human genbank 54_36p -1 reviewed missense c.326 p.A109G 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors LOC645693 645693 genome.wustl.edu 36 15 51017784 51017784 + RNA SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 51017784 51017784 G T SNP LOC645693 XR_017498 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene UNC13C 440279 genome.wustl.edu 36 15 52093232 52093232 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52093232 52093232 T A SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.840 p.S280R 0.98 NULL "superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors UNC13C 440279 genome.wustl.edu 36 15 52094558 52094558 + Silent SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52094558 52094558 A C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional silent c.2166 p.P722 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors UNC13C 440279 genome.wustl.edu 36 15 52343746 52343746 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52343746 52343746 G C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.3537 p.E1179D 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors UNC13C 440279 genome.wustl.edu 36 15 52647435 52647435 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52647435 52647435 A C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.6104 p.Q2035P 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors RAB27A 5873 genome.wustl.edu 36 15 53308192 53308192 + Silent SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 53308192 53308192 A G SNP RAB27A NM_004580 human genbank 54_36p -1 reviewed silent c.250 p.L84 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors CCPG1 9236 genome.wustl.edu 36 15 53439566 53439566 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 53439566 53439566 A G SNP CCPG1 NM_004748 human genbank 54_36p -1 validated missense c.1697 p.F566S 0 NULL NULL - no_errors PRTG 283659 genome.wustl.edu 36 15 53820119 53820119 + Silent SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 53820119 53820119 G A SNP PRTG NM_173814 human genbank 54_36p -1 validated silent c.150 p.V50 1 "HMMPfam_I-set,superfamily_SSF48726" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors MNS1 55329 genome.wustl.edu 36 15 54508658 54508658 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 54508658 54508658 A G SNP MNS1 NM_018365 human genbank 54_36p -1 reviewed missense c.1421 p.I474T 0.98 NULL NULL - no_errors ZNF280D 54816 genome.wustl.edu 36 15 54758184 54758184 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 54758184 54758184 C T SNP ZNF280D NM_017661 human genbank 54_36p -1 validated missense c.1132 p.E378K 1 "HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors TCF12 6938 genome.wustl.edu 36 15 55143311 55143311 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 55143311 55143311 A G SNP TCF12 NM_207036 human genbank 54_36p 1 reviewed missense c.220 p.R74G 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors TCF12 6938 genome.wustl.edu 36 15 55362041 55362041 + Silent SNP G G C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 55362041 55362041 G C SNP TCF12 NM_207036 human genbank 54_36p 1 reviewed silent c.2085 p.G695 1 NULL "HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic" - no_errors CGNL1 84952 genome.wustl.edu 36 15 55518952 55518952 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 55518952 55518952 G A SNP CGNL1 NM_032866 human genbank 54_36p 1 validated missense c.1463 p.G488D 0.09 NULL HMMPfam_Myosin_tail_1 - no_errors LIPC 3990 genome.wustl.edu 36 15 56617868 56617868 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 56617868 56617868 C T SNP LIPC NM_000236 human genbank 54_36p 1 reviewed silent c.133 p.L45 0 "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase" "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors RNF111 54778 genome.wustl.edu 36 15 57172032 57172032 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 57172032 57172032 A T SNP RNF111 NM_017610 human genbank 54_36p 1 reviewed missense c.2744 p.K915I 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors FAM81A 145773 genome.wustl.edu 36 15 57539488 57539488 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 57539488 57539488 C G SNP FAM81A NM_152450 human genbank 54_36p 1 validated missense c.85 p.L29V 0.98 NULL NULL - no_errors BNIP2 663 genome.wustl.edu 36 15 57752127 57752127 + Splice_Site SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 57752127 57752127 C A SNP BNIP2 NM_004330 human genbank 54_36p -1 reviewed splice_site c.575+1 e5+1 1 - - - no_errors ANXA2 302 genome.wustl.edu 36 15 58436718 58436718 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 58436718 58436718 T G SNP ANXA2 NM_001002858 human genbank 54_36p -1 reviewed missense c.421 p.T141P 1 "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors VPS13C 54832 genome.wustl.edu 36 15 60048898 60048898 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60048898 60048898 G C SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.2803 p.L935V 1 NULL HMMPfam_DUF1162 - no_errors FLJ38723 255180 genome.wustl.edu 36 15 60331396 60331396 + RNA SNP A A C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60331396 60331396 A C SNP FLJ38723 XR_041381 human genbank 54_36p -1 model rna NULL NULL 1 - - - no_errors TLN2 83660 genome.wustl.edu 36 15 60918107 60918107 + Splice_Site SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60918107 60918107 G A SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed splice_site c.7375-1 e55-1 1 - - - no_errors HERC1 8925 genome.wustl.edu 36 15 61727326 61727326 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 61727326 61727326 G A SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed missense c.10873 p.H3625Y 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_ARGINASE_2" ############################################################################################################################################################################################################################################################### - no_errors HERC1 8925 genome.wustl.edu 36 15 61739125 61739125 + Nonsense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 61739125 61739125 A C SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed nonsense c.9287 p.L3096* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC1 8925 genome.wustl.edu 36 15 61751786 61751786 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 61751786 61751786 T G SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed silent c.8007 p.A2669 0.94 NULL ############################################################################################################################################################################################################################################################### - no_errors TRIP4 56238 genome.wustl.edu 36 15 62477071 62477071 + Splice_Site SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 62477071 62477071 G T SNP TRIP4 NM_016213 human genbank 54_36p 1 validated splice_site c.618+1 e4+1 1 - - - no_errors ZNF609 23060 genome.wustl.edu 36 15 62579042 62579042 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 62579042 62579042 G A SNP ZNF609 NM_015042 human genbank 54_36p 1 provisional missense c.371 p.R124H 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PLEKHO2 80301 genome.wustl.edu 36 15 62944873 62944873 + Silent SNP C A A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 62944873 62944873 C A SNP PLEKHO2 NM_025201 human genbank 54_36p 1 validated silent c.1206 p.P402 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors CILP 8483 genome.wustl.edu 36 15 63277186 63277186 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63277186 63277186 C G SNP CILP NM_003613 human genbank 54_36p -1 reviewed missense c.2491 p.E831Q 1 NULL "PatternScan_HEXAPEP_TRANSFERASES,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Carboxypeptidase regulatory domain,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors CILP 8483 genome.wustl.edu 36 15 63277777 63277777 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63277777 63277777 T A SNP CILP NM_003613 human genbank 54_36p -1 reviewed missense c.1900 p.T634S 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Carboxypeptidase regulatory domain,HMMPfam_ig,PatternScan_HEXAPEP_TRANSFERASES,superfamily_Immunoglobulin" - no_errors CILP 8483 genome.wustl.edu 36 15 63286375 63286375 + Silent SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63286375 63286375 C A SNP CILP NM_003613 human genbank 54_36p -1 reviewed silent c.222 p.L74 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Carboxypeptidase regulatory domain,HMMPfam_ig,PatternScan_HEXAPEP_TRANSFERASES,superfamily_Immunoglobulin" - no_errors IGDCC3 9543 genome.wustl.edu 36 15 63409183 63409183 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 63409183 63409183 C A SNP IGDCC3 NM_004884 human genbank 54_36p -1 validated missense c.1931 p.G644V 1 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors C15orf44 81556 genome.wustl.edu 36 15 63686706 63686706 + Silent SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63686706 63686706 G A SNP C15orf44 NM_030800 human genbank 54_36p -1 predicted silent c.66 p.S22 0.75 superfamily_vWA-like superfamily_vWA-like - no_errors DIS3L 115752 genome.wustl.edu 36 15 64405758 64405758 + Splice_Site SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 64405758 64405758 T G SNP DIS3L NM_133375 human genbank 54_36p 1 validated splice_site c.1952+2 e11+2 1 - - - no_errors PIAS1 8554 genome.wustl.edu 36 15 66221345 66221345 + Silent SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 66221345 66221345 C T SNP PIAS1 NM_016166 human genbank 54_36p 1 reviewed silent c.477 p.D159 1 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors CORO2B 10391 genome.wustl.edu 36 15 66790129 66790129 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 66790129 66790129 G A SNP CORO2B NM_006091 human genbank 54_36p 1 validated missense c.338 p.R113Q 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" "HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900" - no_errors GLCE 26035 genome.wustl.edu 36 15 67347845 67347845 + Silent SNP G G T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 67347845 67347845 G T SNP GLCE NM_015554 human genbank 54_36p 1 validated silent c.1062 p.L354 1 NULL HMMPfam_C5-epim_C - no_errors GLCE 26035 genome.wustl.edu 36 15 67348201 67348201 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 67348201 67348201 C T SNP GLCE NM_015554 human genbank 54_36p 1 validated missense c.1418 p.A473V 1 HMMPfam_C5-epim_C HMMPfam_C5-epim_C - no_errors UACA 55075 genome.wustl.edu 36 15 68746196 68746196 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 68746196 68746196 T C SNP UACA NM_018003 human genbank 54_36p -1 validated missense c.3881 p.D1294G 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_Pox_A_type_inc" - no_errors KRT8P9 390601 genome.wustl.edu 36 15 68939469 68939469 + RNA SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 68939469 68939469 C T SNP KRT8P9 XR_017231 human genbank 54_36p 1 model rna NULL NULL 0.02 - - - pseudogene LRRC49 54839 genome.wustl.edu 36 15 69016209 69016209 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 69016209 69016209 T G SNP LRRC49 NM_017691 human genbank 54_36p 1 validated missense c.767 p.I256R 1 "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00369" - no_errors THSD4 79875 genome.wustl.edu 36 15 69837379 69837379 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 69837379 69837379 T G SNP THSD4 NM_024817 human genbank 54_36p 1 provisional missense c.2500 p.C834G 1 "HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_ADAM_spacer1,HMMPfam_TSP_1,HMMPfam_PLAC" - no_errors SENP8 123228 genome.wustl.edu 36 15 70219543 70219543 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 70219543 70219543 T A SNP SENP8 NM_145204 human genbank 54_36p 1 provisional nonsense c.525 p.C175* 1 "superfamily_SSF54001,HMMPfam_Peptidase_C48" "superfamily_SSF54001,HMMPfam_Peptidase_C48" - no_errors HEXA 3073 genome.wustl.edu 36 15 70425947 70425947 + Silent SNP G A A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 70425947 70425947 G A SNP HEXA NM_000520 human genbank 54_36p -1 reviewed silent c.1305 p.Y435 0.95 "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" "superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" - no_errors HCN4 10021 genome.wustl.edu 36 15 71404829 71404829 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 71404829 71404829 C T SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.1600 p.V534M 1 superfamily_cNMP_binding "PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1" - no_errors HCN4 10021 genome.wustl.edu 36 15 71423026 71423026 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 71423026 71423026 T A SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.962 p.E321V 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors ISLR 3671 genome.wustl.edu 36 15 72254722 72254722 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72254722 72254722 G A SNP ISLR NM_005545 human genbank 54_36p 1 validated missense c.470 p.R157H 0.99 "superfamily_SSF52058,HMMSmart_LRR_TYP" "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors CCDC33 80125 genome.wustl.edu 36 15 72347841 72347841 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72347841 72347841 A T SNP CCDC33 NM_025055 human genbank 54_36p 1 validated missense c.535 p.M179L 0.81 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors CCDC33 80125 genome.wustl.edu 36 15 72410091 72410091 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72410091 72410091 G A SNP CCDC33 NM_025055 human genbank 54_36p 1 validated silent c.1491 p.L497 0.57 NULL "HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors CCDC33 80125 genome.wustl.edu 36 15 72414492 72414492 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72414492 72414492 C A SNP CCDC33 NM_182791 human genbank 54_36p 1 validated missense c.1030 p.P344T 0.03 NULL NULL - no_errors CYP11A1 1583 genome.wustl.edu 36 15 72418703 72418703 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72418703 72418703 G T SNP CYP11A1 NM_000781 human genbank 54_36p -1 reviewed missense c.1164 p.H388Q 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11A1 1583 genome.wustl.edu 36 15 72423214 72423214 + Silent SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72423214 72423214 A G SNP CYP11A1 NM_000781 human genbank 54_36p -1 reviewed silent c.798 p.H266 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP1A1 1543 genome.wustl.edu 36 15 72799903 72799903 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72799903 72799903 G T SNP CYP1A1 NM_000499 human genbank 54_36p -1 reviewed missense c.1519 p.Q507K 0.94 superfamily_Cytochrome P450 "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP1A2 1544 genome.wustl.edu 36 15 72834381 72834381 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72834381 72834381 C A SNP CYP1A2 NM_000761 human genbank 54_36p 1 reviewed missense c.1450 p.P484T 0.03 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors SCAMP2 10066 genome.wustl.edu 36 15 72928000 72928000 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72928000 72928000 C G SNP SCAMP2 NM_005697 human genbank 54_36p -1 reviewed missense c.728 p.G243A 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors MPI 4351 genome.wustl.edu 36 15 72975669 72975669 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72975669 72975669 G T SNP MPI NM_002435 human genbank 54_36p 1 reviewed missense c.794 p.G265V 1 "superfamily_RmlC-like cupins,HMMPfam_PMI_typeI" "superfamily_RmlC-like cupins,HMMPfam_PMI_typeI,PatternScan_PMI_I_1,PatternScan_PMI_I_2" - no_errors SCAMP5 192683 genome.wustl.edu 36 15 73096050 73096050 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73096050 73096050 G A SNP SCAMP5 NM_138967 human genbank 54_36p 1 validated missense c.200 p.G67E 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors LOC653641 653641 genome.wustl.edu 36 15 73343458 73343458 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73343458 73343458 A G SNP LOC653641 XM_496076 human genbank 54_36p 1 model missense c.545 p.Q182R 1 NULL NULL - no_errors SNX33 257364 genome.wustl.edu 36 15 73729785 73729785 + Silent SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73729785 73729785 G A SNP SNX33 NM_153271 human genbank 54_36p 1 provisional silent c.1287 p.Q429 1 HMMPfam_BAR_3_WASP_bdg "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_BAR_3_WASP_bdg" - no_errors CSPG4 1464 genome.wustl.edu 36 15 73756197 73756197 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73756197 73756197 G A SNP CSPG4 NM_001897 human genbank 54_36p -1 reviewed silent c.5718 p.F1906 0.95 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA" - no_errors ENSG00000222964 0 genome.wustl.edu 36 15 73864775 73864775 + RNA SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 73864775 73864775 C T SNP ENSG00000222964 ENST00000411032 human ensembl 54_36p 1 novel rna NULL NULL 0.2 - - - no_errors SGK269 79834 genome.wustl.edu 36 15 75212886 75212886 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 75212886 75212886 C T SNP SGK269 NM_024776 human genbank 54_36p -1 validated missense c.3593 p.S1198N 1 NULL "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_TYR" - no_errors WDR61 80349 genome.wustl.edu 36 15 76369034 76369034 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 76369034 76369034 G A SNP WDR61 NM_025234 human genbank 54_36p -1 provisional missense c.544 p.L182F 1 "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors RASGRF1 5923 genome.wustl.edu 36 15 77126261 77126261 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 77126261 77126261 C G SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.760 p.E254Q 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors IL16 3603 genome.wustl.edu 36 15 79339214 79339214 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 79339214 79339214 C A SNP IL16 NM_172217 human genbank 54_36p 1 reviewed missense c.359 p.A120E 0.03 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors IL16 3603 genome.wustl.edu 36 15 79372265 79372265 + Silent SNP G A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 79372265 79372265 G A SNP IL16 NM_172217 human genbank 54_36p 1 reviewed silent c.1734 p.P578 0 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors STARD5 80765 genome.wustl.edu 36 15 79392760 79392760 + Silent SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 79392760 79392760 G T SNP STARD5 NM_181900 human genbank 54_36p -1 validated silent c.534 p.T178 0.93 "superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" "superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors EFTUD1 79631 genome.wustl.edu 36 15 80338515 80338515 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 80338515 80338515 T C SNP EFTUD1 NM_024580 human genbank 54_36p -1 validated missense c.128 p.N43S 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,superfamily_EF-G C-terminal domain-like,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_EFG_IV,HMMPfam_EFG_C" - no_errors CPEB1 64506 genome.wustl.edu 36 15 81037199 81037199 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81037199 81037199 G T SNP CPEB1 NM_030594 human genbank 54_36p -1 reviewed missense c.329 p.P110H 1 NULL superfamily_SSF54928 - no_errors AP3B2 8120 genome.wustl.edu 36 15 81128568 81128568 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81128568 81128568 G T SNP AP3B2 NM_004644 human genbank 54_36p -1 validated nonsense c.2708 p.S903* 1 NULL "superfamily_ARM repeat,HMMPfam_Adaptin_N" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP3B2 8120 genome.wustl.edu 36 15 81128641 81128641 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81128641 81128641 C T SNP AP3B2 ENST00000261722 human ensembl 54_36p -1 known missense c.2633 p.R878H 1 superfamily_Clathrin adaptor appendage domain "HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,superfamily_ARM repeat" - no_errors WHAMM 123720 genome.wustl.edu 36 15 81296867 81296867 + Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81296867 81296867 G T SNP WHAMM NM_001080435 human genbank 54_36p 1 provisional nonsense c.2104 p.E702* 0 NULL HMMPfam_WH2 - no_errors WHAMM 123720 genome.wustl.edu 36 15 81299246 81299246 + Silent SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81299246 81299246 G A SNP WHAMM NM_001080435 human genbank 54_36p 1 provisional silent c.2334 p.E778 1 NULL HMMPfam_WH2 - no_errors BTBD1 53339 genome.wustl.edu 36 15 81516183 81516183 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81516183 81516183 G C SNP BTBD1 NM_025238 human genbank 54_36p -1 reviewed missense c.520 p.H174D 1 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMPfam_PHR" - no_errors BNC1 646 genome.wustl.edu 36 15 81726708 81726708 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81726708 81726708 G A SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.319 p.R107C 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ADAMTSL3 57188 genome.wustl.edu 36 15 82279788 82279788 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82279788 82279788 C G SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.585 p.I195M 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC" - no_errors ADAMTSL3 57188 genome.wustl.edu 36 15 82442256 82442256 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82442256 82442256 C T SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.2872 p.R958W 0.05 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors LOC642677 642677 genome.wustl.edu 36 15 82513135 82513135 + RNA SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82513135 82513135 C T SNP LOC642677 XR_036878 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ZSCAN2 54993 genome.wustl.edu 36 15 82964862 82964862 + Silent SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82964862 82964862 G C SNP ZSCAN2 NM_181877 human genbank 54_36p 1 reviewed silent c.432 p.G144 0.1 HMMSmart_SM00431 "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SEC11A 23478 genome.wustl.edu 36 15 83014261 83014261 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83014261 83014261 C T SNP SEC11A NM_014300 human genbank 54_36p -1 provisional missense c.533 p.R178H 1 NULL "superfamily_LexA/Signal peptidase,HMMPfam_Peptidase_S24,PatternScan_SPASE_I_1,PatternScan_SPASE_I_3" - no_errors ZNF592 9640 genome.wustl.edu 36 15 83128692 83128692 + Silent SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83128692 83128692 C T SNP ZNF592 NM_014630 human genbank 54_36p 1 validated silent c.1782 p.D594 1 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF592 9640 genome.wustl.edu 36 15 83143401 83143401 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83143401 83143401 C T SNP ZNF592 NM_014630 human genbank 54_36p 1 validated silent c.3093 p.H1031 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF592 9640 genome.wustl.edu 36 15 83144123 83144123 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83144123 83144123 G C SNP ZNF592 NM_014630 human genbank 54_36p 1 validated missense c.3184 p.E1062Q 1 HMMSmart_ZnF_C2H2 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ALPK3 57538 genome.wustl.edu 36 15 83201506 83201506 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83201506 83201506 G C SNP ALPK3 NM_020778 human genbank 54_36p 1 validated missense c.3139 p.G1047R 0 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors ALPK3 57538 genome.wustl.edu 36 15 83201845 83201845 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83201845 83201845 G C SNP ALPK3 NM_020778 human genbank 54_36p 1 validated missense c.3478 p.D1160H 0.09 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors PDE8A 5151 genome.wustl.edu 36 15 83411368 83411368 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 83411368 83411368 G A SNP PDE8A NM_002605 human genbank 54_36p 1 validated silent c.363 p.L121 1 HMMPfam_Response_reg "HMMPfam_PDE8,HMMPfam_Response_reg,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDE8A 5151 genome.wustl.edu 36 15 83470593 83470593 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83470593 83470593 A C SNP PDE8A NM_002605 human genbank 54_36p 1 validated missense c.2237 p.E746A 1 "HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like" "HMMPfam_Response_reg,HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_SM00471,HMMPfam_PAS,HMMPfam_PDE8,superfamily_HD-domain/PDEase-like,superfamily_PYP-like sensor domain (PAS domain)" - no_errors AKAP13 11214 genome.wustl.edu 36 15 84029056 84029056 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 84029056 84029056 G T SNP AKAP13 NM_006738 human genbank 54_36p 1 reviewed missense c.5249 p.S1750I 1 NULL "superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH" - no_errors KLHL25 64410 genome.wustl.edu 36 15 84112344 84112344 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 84112344 84112344 T C SNP KLHL25 NM_022480 human genbank 54_36p -1 validated missense c.1702 p.I568V 0.99 "HMMPfam_Kelch_1,HMMSmart_Kelch" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors NTRK3 4916 genome.wustl.edu 36 15 86221209 86221209 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 86221209 86221209 C A SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed missense c.2481 p.L827F 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors NTRK3 4916 genome.wustl.edu 36 15 86323601 86323601 + Silent SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 86323601 86323601 G A SNP NTRK3 NM_001007156 human genbank 54_36p -1 reviewed silent c.1818 p.S606 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_I-set" - no_errors ACAN 176 genome.wustl.edu 36 15 87183079 87183079 + Silent SNP A A G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 87183079 87183079 A G SNP ACAN NM_013227 human genbank 54_36p 1 reviewed silent c.252 p.V84 1 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" ############################################################################################################################################################################################################################################################### - no_errors MFGE8 4240 genome.wustl.edu 36 15 87251603 87251603 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 87251603 87251603 C G SNP MFGE8 NM_005928 human genbank 54_36p -1 validated missense c.214 p.E72Q 0 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like" "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors ABHD2 11057 genome.wustl.edu 36 15 87520209 87520209 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 87520209 87520209 G C SNP ABHD2 NM_007011 human genbank 54_36p 1 reviewed missense c.701 p.C234S 1 "superfamily_SSF53474,HMMPfam_Abhydrolase_1" "superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_UPF0017" - no_errors WDR93 56964 genome.wustl.edu 36 15 88071457 88071457 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 88071457 88071457 G A SNP WDR93 NM_020212 human genbank 54_36p 1 provisional missense c.946 p.G316R 0.98 NULL "superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase,PatternScan_WD_REPEATS_1" - no_errors ANPEP 290 genome.wustl.edu 36 15 88150390 88150390 + Silent SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 88150390 88150390 T C SNP ANPEP NM_001150 human genbank 54_36p -1 reviewed silent c.429 p.G143 0 "superfamily_SSF63737,HMMPfam_Peptidase_M1" "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE" - no_errors IQGAP1 8826 genome.wustl.edu 36 15 88820975 88820975 + Missense_Mutation SNP A G G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 88820975 88820975 A G SNP IQGAP1 NM_003870 human genbank 54_36p 1 reviewed missense c.2861 p.Q954R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MAN2A2 4122 genome.wustl.edu 36 15 89251066 89251066 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89251066 89251066 C G SNP MAN2A2 NM_006122 human genbank 54_36p 1 validated missense c.928 p.L310V 1 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors UNC45A 55898 genome.wustl.edu 36 15 89290898 89290898 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89290898 89290898 C T SNP UNC45A NM_018671 human genbank 54_36p 1 validated missense c.1250 p.T417M 1 superfamily_ARM repeat "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_2,superfamily_ARM repeat" - no_errors PRC1 9055 genome.wustl.edu 36 15 89318428 89318428 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89318428 89318428 G C SNP PRC1 NM_003981 human genbank 54_36p -1 reviewed missense c.1403 p.P468R 0.15 HMMPfam_MAP65_ASE1 HMMPfam_MAP65_ASE1 - no_errors VPS33B 26276 genome.wustl.edu 36 15 89349139 89349139 + Silent SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 89349139 89349139 G C SNP VPS33B NM_018668 human genbank 54_36p -1 reviewed silent c.1197 p.L399 0.99 "superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" "superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" - no_errors SV2B 9899 genome.wustl.edu 36 15 89570923 89570923 + Silent SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 89570923 89570923 G C SNP SV2B NM_014848 human genbank 54_36p 1 validated silent c.426 p.L142 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SV2B 9899 genome.wustl.edu 36 15 89596149 89596149 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89596149 89596149 C T SNP SV2B NM_014848 human genbank 54_36p 1 validated missense c.548 p.A183V 1 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors SPATA8 145946 genome.wustl.edu 36 15 95129238 95129238 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 95129238 95129238 T C SNP SPATA8 NM_173499 human genbank 54_36p 1 provisional missense c.205 p.C69R 0 NULL NULL - no_errors SYNM 23336 genome.wustl.edu 36 15 97490006 97490006 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 97490006 97490006 A G SNP SYNM NM_145728 human genbank 54_36p 1 reviewed missense c.3917 p.H1306R 0 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region C15orf51 196968 genome.wustl.edu 36 15 98149807 98149807 + RNA SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98149807 98149807 C A SNP C15orf51 NR_003260 human genbank 54_36p -1 provisional rna NULL NULL 0.31 - - - pseudogene ADAMTS17 170691 genome.wustl.edu 36 15 98512972 98512972 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98512972 98512972 C T SNP ADAMTS17 NM_139057 human genbank 54_36p -1 reviewed missense c.1258 p.G420S 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors LASS3 204219 genome.wustl.edu 36 15 98830675 98830675 + Missense_Mutation SNP C T T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98830675 98830675 C T SNP LASS3 NM_178842 human genbank 54_36p -1 validated missense c.715 p.D239N 1 "HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" "superfamily_Homeodomain-like,HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" - no_errors LINS 55180 genome.wustl.edu 36 15 98938528 98938528 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98938528 98938528 C A SNP LINS1 NM_001040614 human genbank 54_36p -1 reviewed missense c.43 p.V15L 0.99 NULL NULL - no_errors LRRK1 79705 genome.wustl.edu 36 15 99383843 99383843 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 99383843 99383843 G A SNP LRRK1 NM_024652 human genbank 54_36p 1 validated missense c.2383 p.D795N 1 superfamily_P-loop containing nucleoside triphosphate hydrolases ############################################################################################################################################################################################################################################################### - no_errors uc002ddh.1 0 genome.wustl.edu 36 16 15115830 15115830 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15115830 15115830 C T SNP uc002ddh.1 ENST00000340301 human ensembl 54_36p -1 known missense c.1954 p.A652T 0 HMMPfam_NPIP "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_GPS,HMMSmart_SM00303,HMMSmart_SM00308,HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_NPIP" - no_start_codon ENSG00000208756 0 genome.wustl.edu 36 3 151278263 151278263 + RNA SNP C T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 151278263 151278263 C T SNP ENSG00000208756 ENST00000386021 human ensembl 54_36p -1 known rna NULL NULL 0 - - - pseudogene LOC100130646 100130646 genome.wustl.edu 36 3 15150491 15150491 + RNA SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 15150491 15150491 A G SNP LOC100130646 XR_038601 human genbank 54_36p -1 model rna NULL NULL 0.01 - - - pseudogene LOC100130935 100130935 genome.wustl.edu 36 X 151647365 151647365 + Silent SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 151647365 151647365 G T SNP LOC100130935 XM_001721280 human genbank 54_36p -1 model silent c.114 p.A38 0 NULL NULL - no_errors ENSG00000184624 0 genome.wustl.edu 36 18 15261452 15261452 + Silent SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 15261452 15261452 G A SNP ENSG00000184624 ENST00000330020 human ensembl 54_36p 1 known silent c.1239 p.K413 0.75 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_start_codon:no_stop_codon ENSG00000184624 0 genome.wustl.edu 36 18 15261461 15261461 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 15261461 15261461 T C SNP ENSG00000184624 ENST00000330020 human ensembl 54_36p 1 known silent c.1248 p.H416 1 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_start_codon:no_stop_codon LOC100132032 100132032 genome.wustl.edu 36 22 15370301 15370301 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 15370301 15370301 C T SNP LOC100132032 XM_001726273 human genbank 54_36p 1 model missense c.91 p.R31W 0.9 NULL NULL - no_errors LOC100130960 100130960 genome.wustl.edu 36 4 153937093 153937093 + RNA SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 153937093 153937093 C T SNP LOC100130960 XR_038000 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ENSG00000215003 0 genome.wustl.edu 36 16 15933071 15933071 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15933071 15933071 A G SNP ENSG00000215003 ENST00000399416 human ensembl 54_36p -1 known missense c.554 p.L185P 1 NULL "superfamily_L23_L15e_core,HMMPfam_Ribosomal_L15e" - no_errors LOC642451 642451 genome.wustl.edu 36 16 11028662 11028662 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 11028662 11028662 A C SNP LOC642451 XM_926336 human genbank 54_36p 1 model missense c.308 p.E103A 0.89 "HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e" "PatternScan_GAPDH,HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30" - pseudogene GSPT1 2935 genome.wustl.edu 36 16 11897968 11897968 + Silent SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 11897968 11897968 C A SNP GSPT1 NM_002094 human genbank 54_36p -1 validated silent c.198 p.P66 0.55 NULL "superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C" - no_errors RUNDC2A 84127 genome.wustl.edu 36 16 12044377 12044377 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 12044377 12044377 A G SNP RUNDC2A NM_032167 human genbank 54_36p 1 validated missense c.370 p.N124D 1 "HMMPfam_RUN,HMMSmart_SM00593" "HMMPfam_RUN,HMMSmart_SM00593" - no_errors MKL2 57496 genome.wustl.edu 36 16 14142032 14142043 + In_Frame_Del DEL CTCAGAGTGAAG CTCAGAGTGAAG - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 CTCAGAGTGAAG CTCAGAGTGAAG CTCAGAGTGAAG - CTCAGAGTGAAG CTCAGAGTGAAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14142032 14142043 CTCAGAGTGAAG - DEL MKL2 NM_014048 human genbank 54_36p 1 validated in_frame_del c.68_79 p.QSEA24in_frame_del 1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_RPEL,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" "(deletion:cds_exon[14141965,14142118])" no_errors MKL2 57496 genome.wustl.edu 36 16 14247013 14247013 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14247013 14247013 T G SNP MKL2 NM_014048 human genbank 54_36p 1 validated missense c.1207 p.L403V 0.99 "HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF68906" "HMMPfam_SAP,HMMSmart_SAP,HMMSmart_RPEL,superfamily_SSF68906" - no_errors PARN 5073 genome.wustl.edu 36 16 14557046 14557046 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14557046 14557046 C G SNP PARN NM_002582 human genbank 54_36p -1 reviewed missense c.1284 p.M428I 1 NULL "HMMPfam_CAF1,superfamily_Ribonuclease H-like,superfamily_R3H domain,HMMPfam_R3H,superfamily_RNA-binding domain RBD,HMMPfam_RNA_bind" - no_errors LOC728138 728138 genome.wustl.edu 36 16 14990025 14990025 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14990025 14990025 C T SNP LOC728138 XM_001128282 human genbank 54_36p -1 model silent c.1419 p.A473 1 HMMPfam_DUF2152 HMMPfam_DUF2152 - no_errors C16orf45 89927 genome.wustl.edu 36 16 15516746 15516756 + Frame_Shift_Del DEL CGGGAAGTCTT CGGGAAGTCTT - novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 CGGGAAGTCTT CGGGAAGTCTT CGGGAAGTCTT - CGGGAAGTCTT CGGGAAGTCTT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15516746 15516756 CGGGAAGTCTT - DEL C16orf45 NM_033201 human genbank 54_36p 1 validated frame_shift_del c.190_200 p.R64fs 1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.998:0.999:1.000 NULL NULL "(deletion:cds_exon[15516663,15516786])" no_errors NDE1 54820 genome.wustl.edu 36 16 15698143 15698143 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15698143 15698143 C A SNP NDE1 NM_017668 human genbank 54_36p 1 reviewed missense c.872 p.S291Y 0 HMMPfam_NUDE_C HMMPfam_NUDE_C - no_errors MYH11 4629 genome.wustl.edu 36 16 15743116 15743116 + Splice_Site SNP A A T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15743116 15743116 A T SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed splice_site c.2673+2 e21+2 1 - - - no_errors MYH11 4629 genome.wustl.edu 36 16 15748982 15748982 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15748982 15748982 A G SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.2378 p.I793T 1 "superfamily_SSF52540,HMMSmart_IQ" "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors IFT140 9742 genome.wustl.edu 36 16 1582488 1582488 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 1582488 1582488 G A SNP IFT140 NM_014714 human genbank 54_36p -1 validated missense c.472 p.R158W 1 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_TPR-like" - no_errors ABCC1 4363 genome.wustl.edu 36 16 16080820 16080820 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 16080820 16080820 G C SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed missense c.2099 p.G700A 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC1 4363 genome.wustl.edu 36 16 16116180 16116180 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 16116180 16116180 C T SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed missense c.3136 p.R1046C 1 "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors XYLT1 64131 genome.wustl.edu 36 16 17119016 17119016 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 17119016 17119016 G C SNP XYLT1 NM_022166 human genbank 54_36p -1 validated missense c.2545 p.P849A 1 NULL HMMPfam_Branch - no_errors ABCC6P1 653190 genome.wustl.edu 36 16 18493854 18493854 + RNA SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 18493854 18493854 C G SNP ABCC6P1 NR_003569 human genbank 54_36p 1 provisional rna NULL NULL 0.03 - - - pseudogene SYT17 51760 genome.wustl.edu 36 16 19102587 19102587 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 19102587 19102587 T G SNP SYT17 NM_016524 human genbank 54_36p 1 validated missense c.568 p.F190V 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SEPX1 51734 genome.wustl.edu 36 16 1930805 1930805 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 1930805 1930805 G T SNP SEPX1 ENST00000399753 human ensembl 54_36p -1 known missense c.658 p.Q220K 1 NULL "superfamily_Mss4_like,HMMPfam_SelR" - no_errors GPR139 124274 genome.wustl.edu 36 16 19950734 19950734 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 19950734 19950734 C A SNP GPR139 NM_001002911 human genbank 54_36p -1 validated missense c.886 p.A296S 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR139 124274 genome.wustl.edu 36 16 19950854 19950854 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 19950854 19950854 G A SNP GPR139 NM_001002911 human genbank 54_36p -1 validated missense c.766 p.P256S 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors LOC100131046 100131046 genome.wustl.edu 36 16 20074259 20074259 + RNA SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20074259 20074259 C T SNP LOC100131046 XR_037711 human genbank 54_36p 1 model rna NULL NULL 0.13 - - - pseudogene UMOD 7369 genome.wustl.edu 36 16 20256187 20256187 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20256187 20256187 G C SNP UMOD NM_001008389 human genbank 54_36p -1 reviewed missense c.1667 p.A556G 1 "HMMPfam_Zona_pellucida,HMMSmart_SM00241" "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors ACSM5 54988 genome.wustl.edu 36 16 20356144 20356144 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20356144 20356144 T C SNP ACSM5 NM_017888 human genbank 54_36p 1 validated missense c.1490 p.V497A 0.99 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ACSM5 54988 genome.wustl.edu 36 16 20356181 20356181 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20356181 20356181 C G SNP ACSM5 NM_017888 human genbank 54_36p 1 validated missense c.1527 p.I509M 1 superfamily_Acetyl-CoA synthetase-like "HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like" - no_errors ACSM2B 348158 genome.wustl.edu 36 16 20461777 20461777 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20461777 20461777 T G SNP ACSM2B NM_001105069 human genbank 54_36p -1 validated missense c.1469 p.E490A 0.98 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors TSC2 7249 genome.wustl.edu 36 16 2076354 2076354 + Missense_Mutation SNP T G G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2076354 2076354 T G SNP TSC2 NM_000548 human genbank 54_36p 1 reviewed missense c.4822 p.Y1608D 1 "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" "superfamily_ARM repeat,HMMPfam_Tuberin,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20852261 20852261 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20852261 20852261 C G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.12067 p.E4023Q 1 HMMPfam_Dynein_heavy "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20882203 20882203 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 20882203 20882203 C A SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional nonsense c.10504 p.E3502* 1 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20882273 20882273 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20882273 20882273 A C SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.10434 p.C3478W 1 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20888760 20888761 + Missense_Mutation DNP TA TA CT novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 TA TA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 20888760 20888761 TA CT DNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.8313_8312 p.L2771Q 0.000:0.847 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20970551 20970551 + Silent SNP A A G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20970551 20970551 A G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional silent c.4179 p.Y1393 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 21000511 21000511 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21000511 21000511 T G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.2916 p.E972D 0.39 HMMPfam_DHC_N2 "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TMEM159 57146 genome.wustl.edu 36 16 21098357 21098357 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21098357 21098357 C T SNP TMEM159 NM_020422 human genbank 54_36p 1 validated silent c.465 p.F155 0 NULL NULL - no_errors METTL9 51108 genome.wustl.edu 36 16 21536719 21536719 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21536719 21536719 C T SNP METTL9 NM_016025 human genbank 54_36p 1 validated missense c.389 p.S130L 1 HMMPfam_DREV "HMMPfam_DREV,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors LOC440345 440345 genome.wustl.edu 36 16 21756262 21756262 + RNA SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 21756262 21756262 G A SNP LOC440345 XR_015786 human genbank 54_36p -1 model rna NULL NULL 0 - - - no_errors MLST8 64223 genome.wustl.edu 36 16 2198833 2198833 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2198833 2198833 A G SNP GBL NM_022372 human genbank 54_36p 1 validated missense c.935 p.Q312R 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors VWA3A 146177 genome.wustl.edu 36 16 22051738 22051738 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22051738 22051738 A G SNP VWA3A NM_173615 human genbank 54_36p 1 validated missense c.1310 p.Y437C 0.96 superfamily_vWA-like "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" - no_errors E4F1 1877 genome.wustl.edu 36 16 2222784 2222784 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2222784 2222784 T G SNP E4F1 NM_004424 human genbank 54_36p 1 reviewed missense c.757 p.C253G 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC100131998 100131998 genome.wustl.edu 36 16 22348687 22348687 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22348687 22348687 C T SNP LOC100131998 XM_001725049 human genbank 54_36p -1 model missense c.152 p.G51E 1 HMMPfam_RRN3 HMMPfam_RRN3 - pseudogene RNPS1 10921 genome.wustl.edu 36 16 2252307 2252307 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2252307 2252307 C T SNP RNPS1 NM_006711 human genbank 54_36p -1 reviewed missense c.649 p.E217K 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ABCA3 21 genome.wustl.edu 36 16 2269010 2269010 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2269010 2269010 G A SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed silent c.4482 p.C1494 0.99 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors HS3ST2 9956 genome.wustl.edu 36 16 22833913 22833913 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22833913 22833913 C T SNP HS3ST2 NM_006043 human genbank 54_36p 1 reviewed silent c.633 p.A211 1 "superfamily_SSF52540,HMMPfam_Sulfotransfer_1" "superfamily_SSF52540,HMMPfam_Sulfotransfer_1" - no_errors ABCA3 21 genome.wustl.edu 36 16 2298452 2298452 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2298452 2298452 C T SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.1285 p.G429S 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors USP31 57478 genome.wustl.edu 36 16 22987633 22987633 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22987633 22987633 C T SNP USP31 NM_020718 human genbank 54_36p -1 validated silent c.3294 p.E1098 0.81 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors SCNN1G 6340 genome.wustl.edu 36 16 23113021 23113021 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23113021 23113021 C T SNP SCNN1G NM_001039 human genbank 54_36p 1 validated missense c.838 p.H280Y 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors SCNN1B 6338 genome.wustl.edu 36 16 23296016 23296016 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 23296016 23296016 G A SNP SCNN1B NM_000336 human genbank 54_36p 1 validated missense c.1300 p.V434M 0 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors ERN2 10595 genome.wustl.edu 36 16 23614081 23614081 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23614081 23614081 C A SNP ERN2 NM_033266 human genbank 54_36p -1 validated nonsense c.1885 p.E629* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors ERN2 10595 genome.wustl.edu 36 16 23619433 23619433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23619433 23619433 C T SNP ERN2 NM_033266 human genbank 54_36p -1 validated missense c.1597 p.G533R 0 NULL "HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_PQQ,HMMSmart_SM00580,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like),superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_Pkinase,HMMSmart_SM00564" - no_errors ERN2 10595 genome.wustl.edu 36 16 23623881 23623881 + Silent SNP G A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23623881 23623881 G A SNP ERN2 NM_033266 human genbank 54_36p -1 validated silent c.822 p.G274 1 superfamily_Quinoprotein alcohol dehydrogenase-like "HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_PQQ,HMMSmart_SM00580,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like),superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_Pkinase,HMMSmart_SM00564" - no_errors PRKCB 5579 genome.wustl.edu 36 16 24138795 24138795 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24138795 24138795 G A SNP PRKCB NM_212535 human genbank 54_36p 1 reviewed missense c.1876 p.D626N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00133,HMMPfam_Pkinase_C" ############################################################################################################################################################################################################################################################### - no_errors RBBP6 5930 genome.wustl.edu 36 16 24467772 24467772 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24467772 24467772 G A SNP RBBP6 NM_006910 human genbank 54_36p 1 reviewed missense c.272 p.R91Q 1 NULL "HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00184" - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24708914 24708914 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24708914 24708914 C T SNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.1450 p.R484C 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24710529 24710530 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24710529 24710530 GG TT DNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.3065_3066 p.W1022F 1.000:1.000 HMMPfam_Ago_hook "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24712301 24712301 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24712301 24712301 G T SNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.3182 p.G1061V 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors SLC5A11 115584 genome.wustl.edu 36 16 24809842 24809842 + Silent SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24809842 24809842 G T SNP SLC5A11 NM_052944 human genbank 54_36p 1 provisional silent c.816 p.P272 0.16 HMMPfam_SSF HMMPfam_SSF - no_errors ZKSCAN2 342357 genome.wustl.edu 36 16 25163070 25163070 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 25163070 25163070 C T SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated silent c.1518 p.K506 1 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZKSCAN2 342357 genome.wustl.edu 36 16 25174196 25174196 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 25174196 25174196 G C SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated missense c.418 p.R140G 0 HMMSmart_SM00431 "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors IL21R 50615 genome.wustl.edu 36 16 27364072 27364072 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 27364072 27364072 G A SNP IL21R NM_021798 human genbank 54_36p 1 reviewed nonsense c.759 p.W253* 0.08 NULL "superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1" - no_errors GTF3C1 2975 genome.wustl.edu 36 16 27416611 27416611 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 27416611 27416611 C T SNP GTF3C1 NM_001520 human genbank 54_36p -1 validated missense c.2198 p.G733E 0 NULL HMMPfam_B-block_TFIIIC - no_errors KIAA0556 23247 genome.wustl.edu 36 16 27696440 27696440 + Silent SNP G G T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 27696440 27696440 G T SNP KIAA0556 NM_015202 human genbank 54_36p 1 validated silent c.4560 p.V1520 1 NULL "superfamily_Galactose-binding domain-like,PatternScan_AKH" - no_errors XPO6 23214 genome.wustl.edu 36 16 28030740 28030740 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 28030740 28030740 C T SNP XPO6 NM_015171 human genbank 54_36p -1 provisional missense c.2240 p.R747H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Xpo1" - no_errors XPO6 23214 genome.wustl.edu 36 16 28099853 28099853 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 28099853 28099853 C G SNP XPO6 NM_015171 human genbank 54_36p -1 provisional missense c.4 p.A2P 1 NULL "HMMPfam_IBN_N,HMMPfam_Xpo1,superfamily_ARM repeat" - no_errors ATXN2L 11273 genome.wustl.edu 36 16 28753429 28753429 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 28753429 28753429 C G SNP ATXN2L NM_148414 human genbank 54_36p 1 reviewed missense c.2347 p.P783A 0.03 NULL "HMMPfam_LsmAD,HMMPfam_PAM2" - no_errors ATP2A1 487 genome.wustl.edu 36 16 28813022 28813022 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 28813022 28813022 G A SNP ATP2A1 NM_173201 human genbank 54_36p 1 reviewed missense c.1141 p.E381K 0.98 "superfamily_Calcium ATPase transmembrane domain M,superfamily_Metal cation-transporting ATPase ATP-binding domain N" ############################################################################################################################################################################################################################################################### - no_errors CD19 930 genome.wustl.edu 36 16 28851244 28851244 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 28851244 28851244 G T SNP CD19 NM_001770 human genbank 54_36p 1 reviewed missense c.165 p.E55D 0 "superfamily_SSF48726,HMMSmart_IG" "superfamily_SSF48726,HMMSmart_IG" - no_errors LOC728888 728888 genome.wustl.edu 36 16 29302839 29302839 + RNA SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 29302839 29302839 G A SNP LOC728888 XR_015889 human genbank 54_36p -1 model rna NULL NULL 0 - - - no_errors ENSG00000169203 0 genome.wustl.edu 36 16 29404433 29404433 + Missense_Mutation SNP C G G novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 29404433 29404433 C G SNP ENSG00000169203 ENST00000354563 human ensembl 54_36p -1 known missense c.343 p.V115L 0 HMMPfam_NPIP HMMPfam_NPIP - no_errors SEZ6L2 26470 genome.wustl.edu 36 16 29816744 29816744 + Missense_Mutation SNP A T T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 29816744 29816744 A T SNP SEZ6L2 NM_201575 human genbank 54_36p -1 validated missense c.142 p.S48T 0.94 NULL "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB" - no_errors DOC2A 8448 genome.wustl.edu 36 16 29928083 29928083 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 29928083 29928083 C G SNP DOC2A NM_003586 human genbank 54_36p -1 reviewed missense c.358 p.D120H 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors DOC2A 8448 genome.wustl.edu 36 16 29928851 29928851 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 29928851 29928851 G A SNP DOC2A NM_003586 human genbank 54_36p -1 reviewed missense c.194 p.A65V 0.2 NULL "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors TBX6 6911 genome.wustl.edu 36 16 30005602 30005602 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30005602 30005602 C A SNP TBX6 NM_004608 human genbank 54_36p -1 reviewed missense c.911 p.G304V 1 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors CD2BP2 10421 genome.wustl.edu 36 16 30272056 30272056 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30272056 30272056 C G SNP CD2BP2 NM_006110 human genbank 54_36p -1 reviewed missense c.862 p.E288Q 1 "superfamily_GYF domain,HMMPfam_GYF,HMMSmart_SM00444" "superfamily_GYF domain,HMMPfam_GYF,HMMSmart_SM00444" - no_errors SEPT1 1731 genome.wustl.edu 36 16 30298346 30298346 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30298346 30298346 G C SNP SEPT1 NM_052838 human genbank 54_36p -1 reviewed missense c.671 p.P224R 1 HMMPfam_Septin "superfamily_SSF52540,HMMPfam_Septin" - no_errors ITGAL 3683 genome.wustl.edu 36 16 30394135 30394135 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30394135 30394135 G A SNP ITGAL NM_002209 human genbank 54_36p 1 reviewed missense c.172 p.V58M 1 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ZNF764 92595 genome.wustl.edu 36 16 30474709 30474709 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30474709 30474709 G A SNP ZNF764 NM_033410 human genbank 54_36p -1 provisional silent c.534 p.Y178 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF785 146540 genome.wustl.edu 36 16 30501764 30501764 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30501764 30501764 G A SNP ZNF785 NM_152458 human genbank 54_36p -1 provisional missense c.836 p.T279M 0.83 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FBRS 64319 genome.wustl.edu 36 16 30588225 30588225 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30588225 30588225 G T SNP FBRS NM_001105079 human genbank 54_36p 1 validated missense c.1141 p.G381C 0.91 NULL NULL - no_errors IL32 9235 genome.wustl.edu 36 16 3059304 3059304 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 3059304 3059304 G C SNP IL32 NM_001012631 human genbank 54_36p 1 reviewed missense c.514 p.D172H 0 NULL NULL - no_errors SRCAP 10847 genome.wustl.edu 36 16 30639033 30639033 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 30639033 30639033 C T SNP SRCAP NM_006662 human genbank 54_36p 1 validated missense c.2867 p.S956F 1 NULL "HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384" - no_errors ZSCAN10 84891 genome.wustl.edu 36 16 3082123 3082123 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 3082123 3082123 T C SNP ZSCAN10 NM_032805 human genbank 54_36p -1 provisional missense c.427 p.R143G 0 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SETD1A 9739 genome.wustl.edu 36 16 30884446 30884446 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 30884446 30884446 C T SNP SETD1A NM_014712 human genbank 54_36p 1 provisional silent c.1743 p.D581 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors MYST1 84148 genome.wustl.edu 36 16 31039052 31039052 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 31039052 31039052 C G SNP MYST1 NM_182958 human genbank 54_36p 1 provisional missense c.256 p.R86G 1 HMMSmart_SM00298 "HMMSmart_SM00298,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors PRSS36 146547 genome.wustl.edu 36 16 31067427 31067427 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 31067427 31067427 C G SNP PRSS36 NM_173502 human genbank 54_36p -1 validated missense c.343 p.D115H 0.03 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors ITGAX 3687 genome.wustl.edu 36 16 31280662 31280662 + Silent SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 31280662 31280662 G A SNP ITGAX NM_000887 human genbank 54_36p 1 reviewed silent c.1017 p.T339 0.12 superfamily_SSF69318 "superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ITGAX 3687 genome.wustl.edu 36 16 31282089 31282089 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 31282089 31282089 A C SNP ITGAX NM_000887 human genbank 54_36p 1 reviewed missense c.1603 p.K535Q 0.2 "HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318" "HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF53300,superfamily_SSF69179,superfamily_SSF69318" - no_errors ITGAD 3681 genome.wustl.edu 36 16 31320973 31320973 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 31320973 31320973 T C SNP ITGAD NM_005353 human genbank 54_36p 1 validated missense c.464 p.I155T 1 "superfamily_Integrin alpha N-terminal domain,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors C16orf58 64755 genome.wustl.edu 36 16 31412598 31412598 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 31412598 31412598 C T SNP C16orf58 NM_022744 human genbank 54_36p -1 predicted missense c.785 p.G262E 0 HMMPfam_DUF647 HMMPfam_DUF647 - no_errors ZNF267 10308 genome.wustl.edu 36 16 31834750 31834750 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 31834750 31834750 G C SNP ZNF267 NM_003414 human genbank 54_36p 1 validated missense c.1679 p.S560T 0.01 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors LOC647157 647157 genome.wustl.edu 36 16 32345595 32345595 + RNA SNP A A T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 32345595 32345595 A T SNP LOC647157 XR_017478 human genbank 54_36p 1 model rna NULL NULL 0.97 - - - pseudogene MEFV 4210 genome.wustl.edu 36 16 3239649 3239649 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3239649 3239649 C T SNP MEFV NM_000243 human genbank 54_36p -1 reviewed missense c.1043 p.R348H 0 NULL "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors ZNF263 10127 genome.wustl.edu 36 16 3274005 3274005 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3274005 3274005 C T SNP ZNF263 NM_005741 human genbank 54_36p 1 validated silent c.186 p.L62 0.98 "HMMPfam_SCAN,HMMSmart_SM00431" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors UBE2MP1 606551 genome.wustl.edu 36 16 34261983 34261983 + RNA SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 34261983 34261983 G C SNP UBE2MP1 NR_002837 human genbank 54_36p -1 provisional rna NULL NULL 1 - - - pseudogene CLUAP1 23059 genome.wustl.edu 36 16 3513216 3513216 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3513216 3513216 C T SNP CLUAP1 NM_015041 human genbank 54_36p 1 provisional silent c.771 p.D257 0.13 HMMPfam_Cluap1 HMMPfam_Cluap1 - no_errors SLX4 84464 genome.wustl.edu 36 16 3579356 3579356 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3579356 3579356 C A SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional missense c.4284 p.W1428C 0.08 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors SLX4 84464 genome.wustl.edu 36 16 3587923 3587923 + Silent SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3587923 3587923 G A SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional silent c.1242 p.D414 0 NULL "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" - no_errors CREBBP 1387 genome.wustl.edu 36 16 3730521 3730521 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3730521 3730521 A G SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.4013 p.L1338S 0.99 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors CREBBP 1387 genome.wustl.edu 36 16 3760937 3760943 + Frame_Shift_Del DEL GAGGCCC GAGGCCC - novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 GAGGCCC GAGGCCC GAGGCCC - GAGGCCC GAGGCCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3760937 3760943 GAGGCCC - DEL CREBBP NM_004380 human genbank 54_36p -1 reviewed frame_shift_del c.2515_2509 p.G837fs 0.954:0.932:1.000:1.000:0.991:1.000:1.000 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[3760572,3760988])" no_errors ADCY9 115 genome.wustl.edu 36 16 3955909 3955909 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 3955909 3955909 T A SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed missense c.3930 p.R1310S 0.07 NULL "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY9 115 genome.wustl.edu 36 16 3997506 3997506 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 3997506 3997506 C A SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed missense c.1748 p.C583F 1 NULL "HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1" - no_errors MYLK3 91807 genome.wustl.edu 36 16 45304156 45304156 + Silent SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 45304156 45304156 G A SNP MYLK3 NM_182493 human genbank 54_36p -1 validated silent c.2019 p.F673 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ABCC12 94160 genome.wustl.edu 36 16 46698736 46698736 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 46698736 46698736 G A SNP ABCC12 NM_033226 human genbank 54_36p -1 reviewed missense c.2473 p.R825W 0.97 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors N4BP1 9683 genome.wustl.edu 36 16 47152712 47152712 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 47152712 47152712 T C SNP N4BP1 NM_153029 human genbank 54_36p -1 validated missense c.1343 p.K448R 1 NULL NULL - no_errors ZNF500 26048 genome.wustl.edu 36 16 4752611 4752611 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 4752611 4752611 T A SNP ZNF500 NM_021646 human genbank 54_36p -1 validated missense c.562 p.R188W 0.18 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HEATR3 55027 genome.wustl.edu 36 16 48666996 48666996 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 48666996 48666996 G T SNP HEATR3 NM_182922 human genbank 54_36p 1 provisional missense c.636 p.Q212H 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors PPL 5493 genome.wustl.edu 36 16 4877136 4877136 + Splice_Site SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 4877136 4877136 C T SNP PPL NM_002705 human genbank 54_36p -1 reviewed splice_site c.2607+1 e21+1 1 - - - no_errors RHBDF1 64285 genome.wustl.edu 36 16 49279 49279 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 49279 49279 G A SNP RHBDF1 NM_022450 human genbank 54_36p -1 validated silent c.1962 p.Y654 1 HMMPfam_Rhomboid HMMPfam_Rhomboid - no_errors NOD2 64127 genome.wustl.edu 36 16 49303034 49303034 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 49303034 49303034 C T SNP NOD2 NM_022162 human genbank 54_36p 1 reviewed nonsense c.1711 p.Q571* 0.48 NULL "HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,HMMPfam_LRR_1" - no_errors SALL1 6299 genome.wustl.edu 36 16 49731904 49731904 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 49731904 49731904 G T SNP SALL1 NM_002968 human genbank 54_36p -1 reviewed missense c.1730 p.P577H 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors SEC14L5 9717 genome.wustl.edu 36 16 4995935 4995935 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 4995935 4995935 A G SNP SEC14L5 NM_014692 human genbank 54_36p 1 validated missense c.1322 p.E441G 1 "HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO" "HMMPfam_PRELI,superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO,superfamily_SSF101576" - no_errors RBL2 5934 genome.wustl.edu 36 16 52081562 52081562 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 52081562 52081562 G T SNP RBL2 NM_005611 human genbank 54_36p 1 validated missense c.3269 p.S1090I 1 NULL "HMMSmart_CYCLIN,HMMPfam_RB_A,superfamily_Cyclin_like,HMMPfam_RB_B" - no_errors RPGRIP1L 23322 genome.wustl.edu 36 16 52249859 52249859 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 52249859 52249859 C G SNP RPGRIP1L NM_015272 human genbank 54_36p -1 reviewed missense c.1369 p.D457H 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors RPGRIP1L 23322 genome.wustl.edu 36 16 52283700 52283700 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 52283700 52283700 C A SNP RPGRIP1L NM_015272 human genbank 54_36p -1 reviewed missense c.308 p.G103V 1 NULL "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors IRX3 79191 genome.wustl.edu 36 16 52876606 52876606 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 52876606 52876606 C G SNP IRX3 NM_024336 human genbank 54_36p -1 provisional missense c.688 p.E230Q 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_IRO" - no_errors MMP2 4313 genome.wustl.edu 36 16 54089739 54089739 + Silent SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 54089739 54089739 G A SNP MMP2 NM_004530 human genbank 54_36p 1 reviewed silent c.1647 p.E549 1 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" ############################################################################################################################################################################################################################################################### - no_errors LOC390732 390732 genome.wustl.edu 36 16 54319583 54319583 + RNA SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 54319583 54319583 G A SNP LOC390732 XR_016696 human genbank 54_36p 1 model rna NULL NULL 0.07 - - - pseudogene CES1 1066 genome.wustl.edu 36 16 54415073 54415073 + Silent SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 54415073 54415073 C A SNP CES1 NM_001025195 human genbank 54_36p -1 reviewed silent c.429 p.G143 0.99 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1" - no_errors BBS2 583 genome.wustl.edu 36 16 55077050 55077050 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55077050 55077050 T C SNP BBS2 NM_031885 human genbank 54_36p -1 reviewed missense c.2012 p.N671S 1 NULL "superfamily_WD40 repeat-like,HMMPfam_FG-GAP" - no_errors MT1M 4499 genome.wustl.edu 36 16 55224761 55224761 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55224761 55224761 T C SNP MT1M NM_176870 human genbank 54_36p 1 validated missense c.37 p.C13R 0.98 "HMMPfam_Metallothio,superfamily_Metallothionein_sfam,PatternScan_METALLOTHIONEIN_VRT" "HMMPfam_Metallothio,superfamily_Metallothionein_sfam,PatternScan_METALLOTHIONEIN_VRT" - no_errors NUP93 9688 genome.wustl.edu 36 16 55423717 55423717 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55423717 55423717 G T SNP NUP93 NM_014669 human genbank 54_36p 1 validated missense c.1261 p.V421L 1 HMMPfam_Nic96 HMMPfam_Nic96 - no_errors SLC12A3 6559 genome.wustl.edu 36 16 55471577 55471577 + Missense_Mutation SNP G T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55471577 55471577 G T SNP SLC12A3 NM_000339 human genbank 54_36p 1 reviewed missense c.1478 p.G493V 1 HMMPfam_AA_permease "HMMPfam_AA_permease_N,HMMPfam_AA_permease" - no_errors NLRC5 84166 genome.wustl.edu 36 16 55627535 55627535 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55627535 55627535 G A SNP NLRC5 NM_032206 human genbank 54_36p 1 validated missense c.2650 p.D884N 0.98 "superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368,HMMPfam_LRR_1" - no_errors NLRC5 84166 genome.wustl.edu 36 16 55646900 55646900 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55646900 55646900 G A SNP NLRC5 NM_032206 human genbank 54_36p 1 validated silent c.3714 p.L1238 0.24 superfamily_RNI-like "HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00367,HMMPfam_NACHT,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRC5 84166 genome.wustl.edu 36 16 55656696 55656696 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55656696 55656696 G T SNP NLRC5 NM_032206 human genbank 54_36p 1 validated missense c.4226 p.S1409I 0.42 superfamily_RNI-like "HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00367,HMMPfam_NACHT,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SETD6 79918 genome.wustl.edu 36 16 57109887 57109887 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 57109887 57109887 G A SNP SETD6 NM_024860 human genbank 54_36p 1 provisional missense c.983 p.G328E 1 superfamily_RuBisCo LSMT C-terminal substrate-binding domain "superfamily_SET domain,HMMPfam_SET,superfamily_RuBisCo LSMT C-terminal substrate-binding domain" - no_errors CNOT1 23019 genome.wustl.edu 36 16 57148389 57148389 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 57148389 57148389 A G SNP CNOT1 NM_016284 human genbank 54_36p -1 validated missense c.2342 p.L781P 1 NULL "HMMPfam_Not1,PatternScan_LECTIN_LEGUME_BETA" - no_errors CDH8 1006 genome.wustl.edu 36 16 60245088 60245088 + Silent SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 60245088 60245088 G A SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed silent c.2325 p.Y775 1 HMMPfam_Cadherin_C "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH8 1006 genome.wustl.edu 36 16 60247008 60247008 + Silent SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 60247008 60247008 G T SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed silent c.1773 p.T591 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH8 1006 genome.wustl.edu 36 16 60408994 60408994 + Silent SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 60408994 60408994 C A SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed silent c.1167 p.P389 0.27 "HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH8 1006 genome.wustl.edu 36 16 60612766 60612766 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 60612766 60612766 G T SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed missense c.43 p.P15T 1 NULL "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors LOC729217 729217 genome.wustl.edu 36 16 62851823 62851823 + RNA SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 62851823 62851823 G A SNP LOC729217 XR_015483 human genbank 54_36p -1 model rna NULL NULL 0.02 - - - pseudogene LOC100131582 100131582 genome.wustl.edu 36 16 644991 644991 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 644991 644991 C T SNP LOC100131582 XM_001720183 human genbank 54_36p -1 model missense c.443 p.S148N 0 NULL NULL - no_errors CMTM2 146225 genome.wustl.edu 36 16 65178426 65178426 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 65178426 65178426 G C SNP CMTM2 NM_144673 human genbank 54_36p 1 reviewed missense c.470 p.C157S 0 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors CDH16 1014 genome.wustl.edu 36 16 65504166 65504166 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 65504166 65504166 G C SNP CDH16 NM_004062 human genbank 54_36p -1 reviewed missense c.1184 p.P395R 0.01 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1" - no_errors CES3 23491 genome.wustl.edu 36 16 65555855 65555855 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 65555855 65555855 G T SNP CES3 NM_024922 human genbank 54_36p 1 validated missense c.655 p.D219Y 0.89 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_1" "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_1" - no_errors EXOC3L 283849 genome.wustl.edu 36 16 65778461 65778461 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 65778461 65778461 A C SNP EXOC3L NM_178516 human genbank 54_36p -1 validated missense c.1122 p.I374M 0.5 HMMPfam_Sec6 HMMPfam_Sec6 - no_errors FHOD1 29109 genome.wustl.edu 36 16 65828778 65828778 + Silent SNP C C A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 65828778 65828778 C A SNP FHOD1 NM_013241 human genbank 54_36p -1 reviewed silent c.858 p.A286 0.19 NULL "superfamily_ARM-type_fold,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors SLC9A5 6553 genome.wustl.edu 36 16 65855797 65855797 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 65855797 65855797 G A SNP SLC9A5 ENST00000360183 human ensembl 54_36p 1 known missense c.374 p.R125H 0.61 NULL NULL - no_start_codon CTCF 10664 genome.wustl.edu 36 16 66203446 66203446 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 66203446 66203446 G C SNP CTCF NM_006565 human genbank 54_36p 1 reviewed missense c.873 p.E291D 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors SLC7A6OS 84138 genome.wustl.edu 36 16 66895521 66895521 + Missense_Mutation SNP T C C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 66895521 66895521 T C SNP SLC7A6OS NM_032178 human genbank 54_36p -1 provisional missense c.587 p.Y196C 1 NULL NULL - no_errors ZFP90 146198 genome.wustl.edu 36 16 67155003 67155003 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 67155003 67155003 A T SNP ZFP90 NM_133458 human genbank 54_36p 1 provisional missense c.812 p.E271V 0.16 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ZINC_PROTEASE" - no_errors CDH3 1001 genome.wustl.edu 36 16 67276041 67276041 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 67276041 67276041 G A SNP CDH3 NM_001793 human genbank 54_36p 1 reviewed missense c.1237 p.E413K 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors WDR24 84219 genome.wustl.edu 36 16 679276 679276 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 679276 679276 C T SNP WDR24 NM_032259 human genbank 54_36p -1 provisional silent c.366 p.T122 0.89 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors NFAT5 10725 genome.wustl.edu 36 16 68159941 68159941 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 68159941 68159941 G A SNP NFAT5 NM_138713 human genbank 54_36p 1 reviewed missense c.116 p.G39E 1 NULL "superfamily_p53-like transcription factors,HMMPfam_RHD,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" - no_errors SF3B3 23450 genome.wustl.edu 36 16 69133129 69133129 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 69133129 69133129 C T SNP SF3B3 NM_012426 human genbank 54_36p 1 reviewed missense c.1124 p.S375L 1 NULL "PatternScan_IG_MHC,HMMPfam_CPSF_A" - no_errors HYDIN 54768 genome.wustl.edu 36 16 69535298 69535298 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 69535298 69535298 G C SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.6584 p.P2195R 0.49 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 genome.wustl.edu 36 16 69660861 69660861 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 69660861 69660861 A T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.1784 p.I595N 1 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PMFBP1 83449 genome.wustl.edu 36 16 70731875 70731875 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 70731875 70731875 C T SNP PMFBP1 NM_031293 human genbank 54_36p -1 provisional silent c.744 p.K248 1 NULL NULL - no_errors ZFHX3 463 genome.wustl.edu 36 16 71379382 71379382 + Missense_Mutation SNP A T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 71379382 71379382 A T SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated missense c.10294 p.S3432T 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HTA 283902 genome.wustl.edu 36 16 71684605 71684605 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 71684605 71684605 T C SNP HTA NM_001101347 human genbank 54_36p 1 predicted missense c.149 p.M50T 0 NULL NULL - no_errors LOC441506 441506 genome.wustl.edu 36 16 72531969 72531969 + RNA SNP T T C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 72531969 72531969 T C SNP LOC441506 XR_017565 human genbank 54_36p -1 model rna NULL NULL 0.57 - - - pseudogene GLG1 2734 genome.wustl.edu 36 16 73043497 73043497 + Missense_Mutation SNP T G G novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 73043497 73043497 T G SNP GLG1 NM_012201 human genbank 54_36p -1 validated missense c.3570 p.K1190N 0.01 NULL HMMPfam_Cys_rich_FGFR - no_errors KARS 3735 genome.wustl.edu 36 16 74220871 74220871 + Silent SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 74220871 74220871 C T SNP KARS NM_005548 human genbank 54_36p -1 reviewed silent c.1494 p.A498 1 "HMMPfam_tRNA-synt_2,superfamily_SSF55681" "superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_SSF55681" - no_errors GAN 8139 genome.wustl.edu 36 16 79942739 79942739 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 79942739 79942739 T C SNP GAN NM_022041 human genbank 54_36p 1 reviewed missense c.218 p.I73T 1 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors GAN 8139 genome.wustl.edu 36 16 79948921 79948921 + Missense_Mutation SNP G A A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 79948921 79948921 G A SNP GAN NM_022041 human genbank 54_36p 1 reviewed missense c.857 p.R286Q 1 "HMMSmart_Kelch,superfamily_Gal_oxid_central" "HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB" - no_errors LOC729313 729313 genome.wustl.edu 36 16 80067560 80067560 + RNA SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 80067560 80067560 G A SNP LOC729313 XR_015971 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene PLCG2 5336 genome.wustl.edu 36 16 80528917 80528917 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 80528917 80528917 T G SNP PLCG2 NM_002661 human genbank 54_36p 1 validated missense c.3106 p.Y1036D 1 "superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc" ############################################################################################################################################################################################################################################################### - no_errors HSD17B2 3294 genome.wustl.edu 36 16 80689396 80689396 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 80689396 80689396 C T SNP HSD17B2 NM_002153 human genbank 54_36p 1 validated missense c.1018 p.P340S 0.11 superfamily_NAD(P)-binding Rossmann-fold domains "PatternScan_2FE2S_FER_1,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors CDH13 1012 genome.wustl.edu 36 16 81808467 81808467 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 81808467 81808467 G T SNP CDH13 NM_001257 human genbank 54_36p 1 reviewed missense c.500 p.R167M 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" - no_errors CDH13 1012 genome.wustl.edu 36 16 81808476 81808476 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 81808476 81808476 G T SNP CDH13 NM_001257 human genbank 54_36p 1 reviewed missense c.509 p.R170M 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin" - no_errors NECAB2 54550 genome.wustl.edu 36 16 82592958 82592958 + Silent SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82592958 82592958 G A SNP NECAB2 NM_019065 human genbank 54_36p 1 provisional silent c.1068 p.A356 0.7 "superfamily_Dimer_A_B_barrel,HMMPfam_ABM" "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Dimer_A_B_barrel,HMMPfam_ABM" - no_errors NECAB2 54550 genome.wustl.edu 36 16 82592983 82592983 + Silent SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82592983 82592983 C T SNP NECAB2 NM_019065 human genbank 54_36p 1 provisional silent c.1093 p.L365 1 superfamily_Dimer_A_B_barrel "HMMSmart_EFh,HMMPfam_ABM,superfamily_Dimer_A_B_barrel,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473" - no_errors MBTPS1 8720 genome.wustl.edu 36 16 82672933 82672933 + Silent SNP G G C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82672933 82672933 G C SNP MBTPS1 NM_003791 human genbank 54_36p -1 reviewed silent c.1368 p.V456 1 "superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8" "PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER" - no_errors MBTPS1 8720 genome.wustl.edu 36 16 82684840 82684840 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82684840 82684840 G T SNP MBTPS1 NM_003791 human genbank 54_36p -1 reviewed missense c.713 p.T238N 1 "HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53" "HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Pept_S8_S53" - no_errors LRRC50 123872 genome.wustl.edu 36 16 82745706 82745706 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82745706 82745706 G C SNP LRRC50 NM_178452 human genbank 54_36p 1 validated missense c.376 p.E126Q 1 superfamily_Outer arm dynein light chain 1 "superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1" - no_errors LRRC50 123872 genome.wustl.edu 36 16 82745725 82745725 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82745725 82745725 G A SNP LRRC50 NM_178452 human genbank 54_36p 1 validated missense c.395 p.R132H 1 "HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1" "HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1" - no_errors LRRC50 123872 genome.wustl.edu 36 16 82761021 82761021 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82761021 82761021 G A SNP LRRC50 NM_178452 human genbank 54_36p 1 validated silent c.1086 p.K362 0.01 NULL "HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1" - no_errors LRRC50 123872 genome.wustl.edu 36 16 82761031 82761031 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 82761031 82761031 C A SNP LRRC50 NM_178452 human genbank 54_36p 1 validated missense c.1096 p.P366T 0 NULL "HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1" - no_errors KIAA0182 23199 genome.wustl.edu 36 16 84262153 84262153 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 84262153 84262153 C T SNP KIAA0182 NM_014615 human genbank 54_36p 1 validated missense c.3467 p.A1156V 1 NULL NULL - no_errors IRF8 3394 genome.wustl.edu 36 16 84502761 84502761 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 84502761 84502761 A G SNP IRF8 NM_002163 human genbank 54_36p 1 reviewed missense c.443 p.K148R 1 NULL "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,HMMPfam_IRF-3,superfamily_SMAD_FHA" - no_errors TMEM186 25880 genome.wustl.edu 36 16 8797350 8797350 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 8797350 8797350 C T SNP TMEM186 NM_015421 human genbank 54_36p -1 validated missense c.602 p.R201H 0 NULL NULL - no_errors SPG7 6687 genome.wustl.edu 36 16 88130791 88130791 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 88130791 88130791 C T SNP SPG7 NM_199367 human genbank 54_36p 1 reviewed missense c.1442 p.S481L 0 NULL "HMMPfam_FtsH_ext,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA" - no_errors TUBB3 10381 genome.wustl.edu 36 16 88527421 88527421 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 88527421 88527421 G A SNP TUBB3 NM_006086 human genbank 54_36p 1 validated missense c.211 p.G71R 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors PRDM7 11105 genome.wustl.edu 36 16 88655965 88655965 + Silent SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 88655965 88655965 C T SNP PRDM7 NM_001098173 human genbank 54_36p -1 reviewed silent c.747 p.G249 0.43 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,HMMPfam_SSXRD" - no_errors USP7 7874 genome.wustl.edu 36 16 8898375 8898375 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 8898375 8898375 T A SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.2801 p.K934I 1 NULL "superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP7 7874 genome.wustl.edu 36 16 8931755 8931755 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 8931755 8931755 G C SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.80 p.A27G 1 NULL "HMMPfam_UCH,HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001" - no_errors GRIN2A 2903 genome.wustl.edu 36 16 9765286 9765286 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 9765286 9765286 G A SNP GRIN2A NM_000833 human genbank 54_36p -1 reviewed nonsense c.3616 p.R1206* 0.57 HMMPfam_NMDAR2_C "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C" - no_errors GRIN2A 2903 genome.wustl.edu 36 16 9799636 9799636 + Silent SNP A A G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 9799636 9799636 A G SNP GRIN2A NM_000833 human genbank 54_36p -1 reviewed silent c.2355 p.D785 1 "HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II" "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_NMDAR2_C,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors GRIN2A 2903 genome.wustl.edu 36 16 9842061 9842061 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 9842061 9842061 C T SNP GRIN2A NM_000833 human genbank 54_36p -1 reviewed missense c.1595 p.G532E 1 "HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II" "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_NMDAR2_C,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors C1orf226 400793 genome.wustl.edu 36 1 160619999 160619999 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 160619999 160619999 C G SNP C1orf226 NM_001085375 human genbank 54_36p 1 validated missense c.721 p.L241V 1 NULL NULL - no_errors LOC100132857 100132857 genome.wustl.edu 36 X 16402669 16402669 + RNA SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 16402669 16402669 G A SNP LOC100132857 XR_037457 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ENSG00000214210 0 genome.wustl.edu 36 3 165202307 165202307 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 165202307 165202307 C A SNP ENSG00000214210 ENST00000397815 human ensembl 54_36p -1 known missense c.354 p.Q118H 0 HMMPfam_Neugrin HMMPfam_Neugrin - no_start_codon ESPNP 284729 genome.wustl.edu 36 1 16903202 16903202 + Silent SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16903202 16903202 G T SNP ESPNP ENST00000270691 human ensembl 54_36p -1 known silent c.721 p.R241 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_WH2,HMMSmart_SM00246" - no_start_codon MYH13 8735 genome.wustl.edu 36 17 10153456 10153456 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10153456 10153456 G A SNP MYH13 NM_003802 human genbank 54_36p -1 validated silent c.4989 p.D1663 0.99 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors MYH13 8735 genome.wustl.edu 36 17 10156792 10156793 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 10156792 10156793 - T INS MYH13 NM_003802 human genbank 54_36p -1 validated frame_shift_ins c.4189_4188 p.L1396fs 1.000:0.999 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH13 8735 genome.wustl.edu 36 17 10208484 10208484 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10208484 10208484 C G SNP MYH13 NM_003802 human genbank 54_36p -1 validated missense c.89 p.R30P 0.13 NULL "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH8 4626 genome.wustl.edu 36 17 10244527 10244527 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10244527 10244527 G T SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.3640 p.Q1214K 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH8 4626 genome.wustl.edu 36 17 10244771 10244771 + Silent SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10244771 10244771 T A SNP MYH8 NM_002472 human genbank 54_36p -1 validated silent c.3396 p.R1132 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH4 4622 genome.wustl.edu 36 17 10291097 10291097 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10291097 10291097 C A SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.5127 p.E1709D 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH4 4622 genome.wustl.edu 36 17 10291102 10291102 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10291102 10291102 G C SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.5122 p.Q1708E 1 HMMPfam_Myosin_tail_1 "HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH4 4622 genome.wustl.edu 36 17 10297840 10297840 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10297840 10297840 T G SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.2779 p.T927P 0.96 NULL "HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH4 4622 genome.wustl.edu 36 17 10303433 10303433 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10303433 10303433 A C SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.1447 p.F483V 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH4 4622 genome.wustl.edu 36 17 10304029 10304029 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10304029 10304029 C G SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.1381 p.G461R 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 genome.wustl.edu 36 17 10340336 10340336 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10340336 10340336 G A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.4912 p.R1638C 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH1 4619 genome.wustl.edu 36 17 10341378 10341378 + Silent SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10341378 10341378 T C SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed silent c.4482 p.E1494 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 genome.wustl.edu 36 17 10345698 10345698 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10345698 10345698 T C SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.3286 p.S1096G 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 genome.wustl.edu 36 17 10349467 10349467 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10349467 10349467 T A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.2261 p.D754V 0.98 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 genome.wustl.edu 36 17 10356225 10356225 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10356225 10356225 T C SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.1157 p.K386R 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH2 4620 genome.wustl.edu 36 17 10368869 10368869 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10368869 10368869 T A SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.4901 p.Q1634L 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH2 4620 genome.wustl.edu 36 17 10381793 10381793 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10381793 10381793 G T SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.1501 p.Q501K 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH3 4621 genome.wustl.edu 36 17 10486588 10486588 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 10486588 10486588 C T SNP MYH3 NM_002470 human genbank 54_36p -1 reviewed missense c.1759 p.V587M 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH3 4621 genome.wustl.edu 36 17 10486645 10486645 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10486645 10486645 T C SNP MYH3 NM_002470 human genbank 54_36p -1 reviewed missense c.1702 p.K568E 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors DNAH9 1770 genome.wustl.edu 36 17 11613331 11613331 + Silent SNP C T T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 17 11613331 11613331 C T SNP DNAH9 NM_001372 human genbank 54_36p 1 reviewed silent c.7512 p.N2504 0.96 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2" - no_errors DNAH9 1770 genome.wustl.edu 36 17 11749704 11749704 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 11749704 11749704 G T SNP DNAH9 NM_001372 human genbank 54_36p 1 reviewed missense c.11602 p.D3868Y 1 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PITPNA 5306 genome.wustl.edu 36 17 1388963 1388963 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 1388963 1388963 C T SNP PITPNA NM_006224 human genbank 54_36p -1 validated missense c.406 p.V136M 1 "HMMPfam_IP_trans,superfamily_SSF55961" "HMMPfam_IP_trans,superfamily_SSF55961" - no_errors PRPF8 10594 genome.wustl.edu 36 17 1525263 1525263 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 1525263 1525263 C G SNP PRPF8 NM_006445 human genbank 54_36p -1 reviewed missense c.2993 p.R998P 1 HMMPfam_RRM_4 "HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_RRM_4,HMMPfam_U5_2-snRNA_bdg,HMMPfam_U6-snRNA_bdg,HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PROCT" - no_errors CDRT1 374286 genome.wustl.edu 36 17 15442644 15442644 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 15442644 15442644 G C SNP CDRT1 NM_006382 human genbank 54_36p -1 provisional missense c.1482 p.H494Q 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_F-box domain,HMMPfam_F-box,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ADORA2B 136 genome.wustl.edu 36 17 15819310 15819310 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 15819310 15819310 C T SNP ADORA2B NM_000676 human genbank 54_36p 1 reviewed missense c.928 p.L310F 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SERPINF1 5176 genome.wustl.edu 36 17 1621076 1621076 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 1621076 1621076 C T SNP SERPINF1 NM_002615 human genbank 54_36p 1 validated missense c.287 p.A96V 1 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors LOC644422 644422 genome.wustl.edu 36 17 16461353 16461353 + RNA SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 16461353 16461353 G C SNP LOC644422 XR_017541 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ZNF624 57547 genome.wustl.edu 36 17 16466375 16466375 + Silent SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 16466375 16466375 G A SNP ZNF624 NM_020787 human genbank 54_36p -1 validated silent c.2550 p.S850 0.01 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CCDC144A 9720 genome.wustl.edu 36 17 16551563 16551563 + Silent SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 16551563 16551563 C T SNP CCDC144A NM_014695 human genbank 54_36p 1 provisional silent c.720 p.C240 0 NULL NULL - no_errors LOC400578 400578 genome.wustl.edu 36 17 16675795 16675795 + RNA SNP T T G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 16675795 16675795 T G SNP LOC400578 XR_017543 human genbank 54_36p -1 model rna NULL NULL 0.01 - - - no_errors LOC400578 400578 genome.wustl.edu 36 17 16676298 16676298 + RNA SNP T T A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 16676298 16676298 T A SNP LOC400578 XR_017543 human genbank 54_36p -1 model rna NULL NULL 0.07 - - - no_errors TBC1D28 254272 genome.wustl.edu 36 17 18482408 18482408 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 18482408 18482408 C T SNP TBC1D28 NM_001039397 human genbank 54_36p -1 validated silent c.330 p.A110 0.1 superfamily_RabGAP_TBC superfamily_RabGAP_TBC - no_errors FBXW10 10517 genome.wustl.edu 36 17 18595091 18595091 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 18595091 18595091 G C SNP FBXW10 NM_031456 human genbank 54_36p 1 validated missense c.1122 p.K374N 1 "superfamily_WD40 repeat-like,superfamily_F-box domain" "superfamily_WD40 repeat-like,superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors SNORD3A 780851 genome.wustl.edu 36 17 19032095 19032095 + RNA SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 19032095 19032095 C T SNP SNORD3A ENST00000365494 human ensembl 54_36p 1 known rna NULL NULL 0.99 - - - no_errors RNF112 7732 genome.wustl.edu 36 17 19258027 19258027 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 19258027 19258027 G A SNP RNF112 ENST00000299604 human ensembl 54_36p 1 known missense c.853 p.D285N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP" - no_errors ALDH3A2 224 genome.wustl.edu 36 17 19508856 19508856 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 19508856 19508856 A G SNP ALDH3A2 NM_001031806 human genbank 54_36p 1 reviewed missense c.1111 p.I371V 1 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors SPECC1 92521 genome.wustl.edu 36 17 20048346 20048346 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 20048346 20048346 C T SNP CYTSB NM_001033553 human genbank 54_36p 1 validated missense c.392 p.S131L 0.02 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors SPECC1 92521 genome.wustl.edu 36 17 20048888 20048888 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 20048888 20048888 T C SNP CYTSB NM_001033553 human genbank 54_36p 1 validated missense c.934 p.S312P 0.54 NULL "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" - no_errors LOC645313 645313 genome.wustl.edu 36 17 20628829 20628829 + RNA SNP A A G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 20628829 20628829 A G SNP LOC645313 XR_017585 human genbank 54_36p 1 model rna NULL NULL 0.92 - - - pseudogene KCNJ12 3768 genome.wustl.edu 36 17 21260314 21260314 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 21260314 21260314 G A SNP KCNJ12 NM_021012 human genbank 54_36p 1 validated missense c.1067 p.R356H 1 "HMMPfam_IRK,superfamily_Ig_E-set" "HMMPfam_IRK_N,superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set" - no_errors TSR1 55720 genome.wustl.edu 36 17 2183158 2183158 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 2183158 2183158 C G SNP TSR1 NM_018128 human genbank 54_36p -1 validated missense c.1152 p.K384N 0.97 NULL "HMMPfam_AARP2CN,HMMSmart_AARP2CN,HMMPfam_DUF663" - no_errors NLK 51701 genome.wustl.edu 36 17 23512371 23512371 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 23512371 23512371 C A SNP NLK NM_016231 human genbank 54_36p 1 validated missense c.703 p.P235T 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST" - no_errors FLJ40504 284085 genome.wustl.edu 36 17 23628148 23628148 + Nonsense_Mutation SNP C A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 23628148 23628148 C A SNP FLJ40504 NM_173624 human genbank 54_36p -1 predicted nonsense c.454 p.E152* 1 HMMPfam_Filament HMMPfam_Filament - no_errors KIAA0100 9703 genome.wustl.edu 36 17 23990758 23990758 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 23990758 23990758 G A SNP KIAA0100 NM_014680 human genbank 54_36p -1 validated missense c.1045 p.R349C 1 NULL "HMMPfam_Mqo,HMMPfam_Fmp27_GFWDK,HMMPfam_Apt1" - no_errors SUPT6H 6830 genome.wustl.edu 36 17 24024598 24024598 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 24024598 24024598 G A SNP SUPT6H NM_003170 human genbank 54_36p 1 validated missense c.52 p.D18N 0.99 NULL "HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252" - no_errors RPL23A 6147 genome.wustl.edu 36 17 24074728 24074728 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 24074728 24074728 G C SNP RPL23A NM_000984 human genbank 54_36p 1 reviewed missense c.399 p.E133D 1 "superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L23" "HMMPfam_Ribosomal_L23eN,superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L23,PatternScan_RIBOSOMAL_L23" - no_errors MYO18A 399687 genome.wustl.edu 36 17 24442013 24442013 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 24442013 24442013 C G SNP MYO18A NM_078471 human genbank 54_36p -1 validated missense c.5245 p.E1749Q 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin" - no_errors MYO18A 399687 genome.wustl.edu 36 17 24472330 24472330 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 24472330 24472330 C T SNP MYO18A NM_078471 human genbank 54_36p -1 validated missense c.1397 p.R466Q 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NUFIP2 57532 genome.wustl.edu 36 17 24637892 24637892 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 24637892 24637892 T C SNP NUFIP2 NM_020772 human genbank 54_36p -1 validated missense c.1246 p.N416D 1 NULL NULL - no_errors CCDC55 84081 genome.wustl.edu 36 17 25536462 25536462 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 25536462 25536462 G A SNP CCDC55 NM_032141 human genbank 54_36p 1 validated missense c.1321 p.E441K 0.02 NULL HMMPfam_DUF2040 - no_errors ATAD5 79915 genome.wustl.edu 36 17 26186388 26186388 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26186388 26186388 C T SNP ATAD5 NM_024857 human genbank 54_36p 1 provisional missense c.1163 p.S388F 0.98 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" - no_errors ATAD5 79915 genome.wustl.edu 36 17 26228597 26228597 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26228597 26228597 G C SNP ATAD5 NM_024857 human genbank 54_36p 1 provisional missense c.3822 p.Q1274H 0.16 "HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ATAD5 79915 genome.wustl.edu 36 17 26243895 26243895 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26243895 26243895 T G SNP ATAD5 NM_024857 human genbank 54_36p 1 provisional missense c.4403 p.I1468S 0.99 NULL "HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors C17orf42 79736 genome.wustl.edu 36 17 26251689 26251689 + Silent SNP T T G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26251689 26251689 T G SNP C17orf42 NM_024683 human genbank 54_36p -1 validated silent c.513 p.I171 0.94 superfamily_Ribonuclease H-like superfamily_Ribonuclease H-like - no_errors LOC646021 646021 genome.wustl.edu 36 17 26373157 26373157 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26373157 26373157 G T SNP LOC646021 XM_933339 human genbank 54_36p 1 model missense c.810 p.Q270H 1 NULL NULL - no_errors LRRC37B 114659 genome.wustl.edu 36 17 27400349 27400349 + Silent SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 27400349 27400349 A G SNP LRRC37B NM_052888 human genbank 54_36p 1 validated silent c.2499 p.T833 0.01 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors RHOT1 55288 genome.wustl.edu 36 17 27527332 27527332 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 27527332 27527332 G C SNP RHOT1 NM_001033568 human genbank 54_36p 1 validated missense c.316 p.D106H 1 "superfamily_SSF52540,HMMPfam_Miro" "superfamily_SSF52540,HMMPfam_Miro,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_EF_assoc_2,HMMPfam_EF_assoc_1" - no_errors CDK5R1 8851 genome.wustl.edu 36 17 27839273 27839273 + Silent SNP C T T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 27839273 27839273 C T SNP CDK5R1 NM_003885 human genbank 54_36p 1 reviewed silent c.522 p.P174 1 "HMMPfam_CDK5_activator,superfamily_Cyclin-like" "HMMPfam_CDK5_activator,superfamily_Cyclin-like" - no_errors MYO1D 4642 genome.wustl.edu 36 17 28106699 28106699 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 28106699 28106699 C A SNP MYO1D NM_015194 human genbank 54_36p -1 provisional missense c.1391 p.G464V 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_TH1" - no_errors SPACA3 124912 genome.wustl.edu 36 17 28346653 28346653 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 28346653 28346653 G A SNP SPACA3 NM_173847 human genbank 54_36p 1 provisional missense c.148 p.A50T 0.01 NULL "HMMPfam_Lys,superfamily_Lysozyme-like,HMMSmart_SM00263,PatternScan_LACTALBUMIN_LYSOZYME_1" - no_errors ACCN1 40 genome.wustl.edu 36 17 28372415 28372425 + Frame_Shift_Del DEL AATATATCCAG AATATATCCAG - novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 AATATATCCAG AATATATCCAG AATATATCCAG - AATATATCCAG AATATATCCAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 28372415 28372425 AATATATCCAG - DEL ACCN1 NM_183377 human genbank 54_36p -1 reviewed frame_shift_del c.1376_1366 p.L456fs 1.000:1.000:1.000:1.000:0.998:0.998:1.000:1.000:1.000:1.000:0.998 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" "(deletion:cds_exon[28372350,28372441])" no_errors RAP1GAP2 23108 genome.wustl.edu 36 17 2876141 2876141 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 2876141 2876141 C T SNP GARNL4 NM_015085 human genbank 54_36p 1 validated missense c.1841 p.P614L 1 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" - no_errors FNDC8 54752 genome.wustl.edu 36 17 30481491 30481491 + Silent SNP C T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 30481491 30481491 C T SNP FNDC8 NM_017559 human genbank 54_36p 1 validated silent c.900 p.P300 0.71 NULL "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors OR1A1 8383 genome.wustl.edu 36 17 3065967 3065967 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 3065967 3065967 G A SNP OR1A1 NM_014565 human genbank 54_36p 1 provisional missense c.303 p.M101I 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors SLFN12L 342615 genome.wustl.edu 36 17 30830892 30830892 + Silent SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 30830892 30830892 C T SNP SLFN12L ENST00000361112 human ensembl 54_36p -1 known silent c.396 p.T132 0 NULL HMMPfam_AAA_4 - no_errors OR3A4 390756 genome.wustl.edu 36 17 3160859 3160859 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 3160859 3160859 C G SNP OR3A4 ENST00000323164 human ensembl 54_36p 1 known missense c.505 p.L169V 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MYO19 80179 genome.wustl.edu 36 17 31957639 31957639 + Silent SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 31957639 31957639 C A SNP MYO19 NM_025109 human genbank 54_36p -1 validated silent c.156 p.L52 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ" - no_errors LHX1 3975 genome.wustl.edu 36 17 32371784 32371784 + Silent SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 32371784 32371784 C T SNP LHX1 NM_005568 human genbank 54_36p 1 reviewed silent c.255 p.H85 1 "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ACACA 31 genome.wustl.edu 36 17 32528962 32528962 + Silent SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 32528962 32528962 T C SNP ACACA NM_198834 human genbank 54_36p -1 reviewed silent c.6636 p.L2212 0.92 "superfamily_SSF52096,HMMPfam_Carboxyl_trans" ############################################################################################################################################################################################################################################################### - no_errors SYNRG 11276 genome.wustl.edu 36 17 32976327 32976327 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 32976327 32976327 G A SNP AP1GBP1 NM_007247 human genbank 54_36p -1 reviewed missense c.3062 p.S1021L 0.08 NULL "HMMSmart_SM00027,superfamily_EF-hand" - no_errors DDX52 11056 genome.wustl.edu 36 17 33064181 33064181 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 33064181 33064181 C A SNP DDX52 NM_007010 human genbank 54_36p -1 validated missense c.739 p.A247S 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors TRPV3 162514 genome.wustl.edu 36 17 3371026 3371026 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 3371026 3371026 A C SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed missense c.1801 p.F601V 1 HMMPfam_Ion_trans "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors GPR179 440435 genome.wustl.edu 36 17 33737958 33737958 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 33737958 33737958 G A SNP GPR179 NM_001004334 human genbank 54_36p -1 validated missense c.5020 p.L1674F 0 NULL "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMSmart_EGF,HMMPfam_7tm_3" - no_errors TRPV3 162514 genome.wustl.edu 36 17 3374306 3374306 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 3374306 3374306 G A SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed missense c.1679 p.A560V 1 HMMPfam_Ion_trans "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans" - no_errors PIP4K2B 8396 genome.wustl.edu 36 17 34190269 34190269 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 34190269 34190269 C A SNP PIP4K2B NM_003559 human genbank 54_36p -1 reviewed missense c.469 p.V157L 1 "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors PLXDC1 57125 genome.wustl.edu 36 17 34549525 34549525 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 34549525 34549525 C A SNP PLXDC1 NM_020405 human genbank 54_36p -1 validated missense c.163 p.V55L 0.16 NULL HMMPfam_PSI - no_errors CACNB1 782 genome.wustl.edu 36 17 34593507 34593507 + Missense_Mutation SNP C G G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 34593507 34593507 C G SNP CACNB1 NM_000723 human genbank 54_36p -1 reviewed missense c.1035 p.K345N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072" "superfamily_SH3-domain,HMMPfam_SH3_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072" - no_errors PNMT 5409 genome.wustl.edu 36 17 35079886 35079886 + Silent SNP A A T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35079886 35079886 A T SNP PNMT NM_002686 human genbank 54_36p 1 reviewed silent c.567 p.P189 0.99 "HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335" "HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335,PatternScan_NNMT_PNMT_TEMT" - no_errors GRB7 2886 genome.wustl.edu 36 17 35156647 35156647 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35156647 35156647 C T SNP GRB7 NM_001030002 human genbank 54_36p 1 reviewed missense c.1570 p.R524C 1 superfamily_SH2 domain "HMMPfam_RA,HMMSmart_SM00314,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_BPS,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors PSMD3 5709 genome.wustl.edu 36 17 35405006 35405006 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35405006 35405006 G T SNP PSMD3 NM_002809 human genbank 54_36p 1 reviewed missense c.1148 p.G383V 1 "HMMSmart_SM00753,HMMPfam_PCI" "superfamily_TPR-like,HMMSmart_SM00753,HMMPfam_PCI,superfamily_Winged helix DNA-binding domain,HMMSmart_SM00088,HMMPfam_Rpn3_C" - no_errors CSF3 1440 genome.wustl.edu 36 17 35425469 35425469 + Splice_Site SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35425469 35425469 G A SNP CSF3 NM_000759 human genbank 54_36p 1 reviewed splice_site c.41-1 e2-1 0.93 - - - no_errors CDC6 990 genome.wustl.edu 36 17 35700993 35700993 + Silent SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35700993 35700993 A C SNP CDC6 NM_001254 human genbank 54_36p 1 reviewed silent c.336 p.L112 0.01 NULL "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF46785,HMMPfam_Cdc6_C" - no_errors CDC6 990 genome.wustl.edu 36 17 35710691 35710691 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35710691 35710691 G T SNP CDC6 NM_001254 human genbank 54_36p 1 reviewed missense c.1335 p.R445S 1 NULL "HMMSmart_AAA,HMMPfam_AAA,HMMPfam_Cdc6_C,superfamily_SSF46785,superfamily_SSF52540" - no_errors RARA 5914 genome.wustl.edu 36 17 35765168 35765168 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 35765168 35765168 G C SNP RARA NM_000964 human genbank 54_36p 1 validated missense c.1140 p.K380N 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors KRT25 147183 genome.wustl.edu 36 17 36163715 36163715 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 36163715 36163715 G T SNP KRT25 NM_181534 human genbank 54_36p -1 provisional missense c.592 p.L198M 1 HMMPfam_Filament "PatternScan_IF,HMMPfam_Filament" - no_errors KRT23 25984 genome.wustl.edu 36 17 36335148 36335148 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 36335148 36335148 C A SNP KRT23 NM_015515 human genbank 54_36p -1 reviewed nonsense c.1126 p.E376* 1 "HMMPfam_Filament,PatternScan_IF" "HMMPfam_Filament,PatternScan_IF" - no_errors LOC728341 728341 genome.wustl.edu 36 17 36685561 36685561 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 36685561 36685561 G A SNP LOC728341 XM_001127251 human genbank 54_36p 1 model missense c.86 p.S29N 0 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors KRT14 3861 genome.wustl.edu 36 17 36993338 36993338 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 36993338 36993338 C T SNP KRT14 NM_000526 human genbank 54_36p -1 reviewed silent c.1044 p.Q348 1 HMMPfam_Filament "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors HAP1 9001 genome.wustl.edu 36 17 37134774 37134774 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37134774 37134774 G C SNP HAP1 NM_177977 human genbank 54_36p -1 reviewed missense c.1565 p.A522G 0 NULL HMMPfam_HAP1_N - no_errors HAP1 9001 genome.wustl.edu 36 17 37142537 37142537 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37142537 37142537 G C SNP HAP1 NM_177977 human genbank 54_36p -1 reviewed missense c.509 p.T170S 0.98 HMMPfam_HAP1_N HMMPfam_HAP1_N - no_errors JUP 3728 genome.wustl.edu 36 17 37165966 37165968 + In_Frame_Del DEL CTC CTC - novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 CTC CTC CTC - CTC CTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37165966 37165968 CTC - DEL JUP NM_002230 human genbank 54_36p -1 reviewed in_frame_del c.2073_2071 p.E691in_frame_del 0.953:0.993:0.998 NULL "superfamily_ARM-type_fold,HMMSmart_ARM,HMMPfam_HEAT,HMMPfam_Arm" "(deletion:cds_exon[37165953,37165992])" no_errors KLHL10 317719 genome.wustl.edu 36 17 37255021 37255021 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37255021 37255021 G C SNP KLHL10 NM_152467 human genbank 54_36p 1 validated missense c.802 p.D268H 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMSmart_Kelch,HMMPfam_Kelch_1,superfamily_Gal_oxid_central" - no_errors ACLY 47 genome.wustl.edu 36 17 37323524 37323524 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37323524 37323524 C G SNP ACLY NM_001096 human genbank 54_36p -1 reviewed missense c.129 p.L43F 0.99 superfamily_SSF56059 "superfamily_SSF56059,superfamily_CoA_ligase,PatternScan_SUCCINYL_COA_LIG_3,superfamily_NAD(P)-bd,HMMPfam_CoA_binding,superfamily_Citrate_synthase_core,HMMPfam_Ligase_CoA,PatternScan_SUCCINYL_COA_LIG_1,PatternScan_SUCCINYL_COA_LIG_2" - no_errors TTC25 83538 genome.wustl.edu 36 17 37348883 37348883 + Silent SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37348883 37348883 G A SNP TTC25 ENST00000377543 human ensembl 54_36p 1 known silent c.990 p.Q330 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors NKIRAS2 28511 genome.wustl.edu 36 17 37428150 37428150 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 37428150 37428150 A T SNP NKIRAS2 NM_001001349 human genbank 54_36p 1 validated missense c.302 p.K101M 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Miro" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Miro" - no_errors P2RX1 5023 genome.wustl.edu 36 17 3747882 3747882 + Missense_Mutation SNP A C C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A C C A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 3747882 3747882 A C SNP P2RX1 NM_002558 human genbank 54_36p -1 reviewed missense c.1175 p.L392R 1 NULL "HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR" - no_errors TUBG1 7283 genome.wustl.edu 36 17 38017659 38017659 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38017659 38017659 G T SNP TUBG1 NM_001070 human genbank 54_36p 1 reviewed missense c.371 p.R124L 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors CNTNAP1 8506 genome.wustl.edu 36 17 38096296 38096296 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38096296 38096296 G A SNP CNTNAP1 NM_003632 human genbank 54_36p 1 reviewed nonsense c.1869 p.W623* 1 "superfamily_ConA_like_lec_gl,superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG" ############################################################################################################################################################################################################################################################### - no_errors EZH1 2145 genome.wustl.edu 36 17 38108443 38108443 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 38108443 38108443 C T SNP EZH1 NM_001991 human genbank 54_36p -1 validated missense c.2161 p.E721K 1 "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" "HMMSmart_SM00717,PatternScan_AP_NUCLEASE_F2_1,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" - no_errors BECN1 8678 genome.wustl.edu 36 17 38216443 38216443 + Missense_Mutation SNP T C C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38216443 38216443 T C SNP BECN1 NM_003766 human genbank 54_36p -1 validated missense c.1214 p.D405G 1 HMMPfam_APG6 HMMPfam_APG6 - no_errors AOC2 314 genome.wustl.edu 36 17 38251101 38251101 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38251101 38251101 C T SNP AOC2 NM_009590 human genbank 54_36p 1 reviewed missense c.932 p.S311L 0.53 "superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid" "superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2" - no_errors AOC2 314 genome.wustl.edu 36 17 38255163 38255163 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38255163 38255163 C T SNP AOC2 NM_009590 human genbank 54_36p 1 reviewed nonsense c.1894 p.Q632* 0.85 "HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain" "PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2,HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase N-terminal region" - no_errors AOC3 8639 genome.wustl.edu 36 17 38258187 38258187 + Missense_Mutation SNP A T T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38258187 38258187 A T SNP AOC3 NM_003734 human genbank 54_36p 1 reviewed missense c.1301 p.Q434L 1 "superfamily_CuNH_oxidase,HMMPfam_Cu_amine_oxid" "superfamily_Cu_amine_oxidase_N-reg,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_CuNH_oxidase,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2" - no_errors G6PC 2538 genome.wustl.edu 36 17 38316805 38316805 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 38316805 38316805 G A SNP G6PC NM_000151 human genbank 54_36p 1 reviewed missense c.910 p.V304I 0.12 NULL "superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2" - no_errors ZZEF1 23140 genome.wustl.edu 36 17 3867594 3867594 + Silent SNP G C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 3867594 3867594 G C SNP ZZEF1 NM_015113 human genbank 54_36p -1 validated silent c.7821 p.L2607 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,superfamily_Galactose-binding domain-like,HMMPfam_APC10,superfamily_Spermadhesin CUB domain,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors SLC4A1 6521 genome.wustl.edu 36 17 39690943 39690944 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 CC CC CC AG CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 39690943 39690944 CC AG DNP SLC4A1 NM_000342 human genbank 54_36p -1 reviewed missense c.1219_1218 p.A407S 1.000:1.000 HMMPfam_HCO3_cotransp "superfamily_PTrfase/Anion_transptr,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2" - no_errors ITGA2B 3674 genome.wustl.edu 36 17 39813519 39813519 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 39813519 39813519 C T SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed missense c.1414 p.G472R 0.88 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors FZD2 2535 genome.wustl.edu 36 17 39992127 39992127 + Silent SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 39992127 39992127 G A SNP FZD2 NM_001466 human genbank 54_36p 1 reviewed silent c.1545 p.S515 1 HMMPfam_Frizzled "HMMPfam_Fz,superfamily_Frizzled_Cys-rich,HMMSmart_FRI,HMMPfam_Frizzled" - no_errors GFAP 2670 genome.wustl.edu 36 17 40346652 40346652 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 40346652 40346652 C T SNP GFAP NM_002055 human genbank 54_36p -1 reviewed silent c.588 p.E196 1 HMMPfam_Filament "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors KIF18B 146909 genome.wustl.edu 36 17 40366915 40366915 + Missense_Mutation SNP T C C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 40366915 40366915 T C SNP KIF18B NM_001080443 human genbank 54_36p -1 provisional missense c.964 p.T322A 1 "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin" "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors WNT9B 7484 genome.wustl.edu 36 17 42307405 42307405 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 42307405 42307405 C G SNP WNT9B ENST00000376843 human ensembl 54_36p 1 known missense c.256 p.L86V 0 "HMMSmart_WNT1,HMMPfam_wnt" "HMMSmart_WNT1,HMMPfam_wnt,PatternScan_WNT1" - no_errors LOC644397 644397 genome.wustl.edu 36 17 42450591 42450591 + RNA SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 42450591 42450591 A T SNP LOC644397 XR_042323 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene LOC644397 644397 genome.wustl.edu 36 17 42451708 42451708 + RNA SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 42451708 42451708 C T SNP LOC644397 XR_042323 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene CDC27 996 genome.wustl.edu 36 17 42576246 42576246 + Splice_Site SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 42576246 42576246 A G SNP CDC27 NM_001256 human genbank 54_36p -1 reviewed splice_site c.1170+2 e10+2 1 - - - no_errors LRRC46 90506 genome.wustl.edu 36 17 43267764 43267764 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 43267764 43267764 G A SNP LRRC46 NM_033413 human genbank 54_36p 1 provisional missense c.272 p.R91H 1 "superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1" "superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors SCRN2 90507 genome.wustl.edu 36 17 43270947 43270947 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 43270947 43270947 T A SNP SCRN2 NM_138355 human genbank 54_36p -1 validated missense c.887 p.D296V 1 NULL NULL - no_errors PRR15L 79170 genome.wustl.edu 36 17 43385312 43385312 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 43385312 43385312 G C SNP ATAD4 NM_024320 human genbank 54_36p -1 provisional missense c.288 p.H96Q 0 NULL NULL - no_errors HOXB1 3211 genome.wustl.edu 36 17 43963034 43963034 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 43963034 43963034 T A SNP HOXB1 NM_002144 human genbank 54_36p -1 reviewed missense c.232 p.S78C 0.82 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors B4GALNT2 124872 genome.wustl.edu 36 17 44601986 44601986 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 44601986 44601986 C A SNP B4GALNT2 NM_153446 human genbank 54_36p 1 provisional missense c.1598 p.A533D 0 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" - no_errors PELP1 27043 genome.wustl.edu 36 17 4524656 4524656 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 4524656 4524656 G T SNP PELP1 NM_014389 human genbank 54_36p -1 validated missense c.1480 p.P494T 1 NULL "HMMPfam_NUC201,HMMPfam_NUC202" - no_errors MYST2 11143 genome.wustl.edu 36 17 45248246 45248246 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 45248246 45248246 G C SNP MYST2 NM_007067 human genbank 54_36p 1 provisional missense c.935 p.R312T 1 NULL "superfamily_CCHHC domain,HMMPfam_zf-C2HC,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors WFIKKN2 124857 genome.wustl.edu 36 17 46272134 46272134 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 46272134 46272134 G C SNP WFIKKN2 NM_175575 human genbank 54_36p 1 reviewed missense c.486 p.E162D 1 "superfamily_SSF100895,HMMPfam_Kazal_2,HMMSmart_KAZAL" ############################################################################################################################################################################################################################################################### - no_errors PSMB6 5694 genome.wustl.edu 36 17 4647940 4647940 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 4647940 4647940 A G SNP PSMB6 NM_002798 human genbank 54_36p 1 reviewed missense c.308 p.E103G 1 "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome" "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors MINK1 50488 genome.wustl.edu 36 17 4740635 4740636 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 4740635 4740636 - G INS MINK1 ENST00000355280 human ensembl 54_36p 1 known frame_shift_ins c.3445_3446 p.E1151fs 1.000:1.000 "HMMSmart_SM00036,HMMPfam_CNH" "HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),PatternScan_ZINC_FINGER_C2H2_1,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH" - no_errors CAMTA2 23125 genome.wustl.edu 36 17 4824431 4824431 + Missense_Mutation SNP G T T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 4824431 4824431 G T SNP CAMTA2 NM_015099 human genbank 54_36p -1 reviewed missense c.910 p.P304T 0.99 NULL "HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Ank,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ" - no_errors CAMTA2 23125 genome.wustl.edu 36 17 4826908 4826908 + Silent SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 4826908 4826908 A T SNP CAMTA2 NM_015099 human genbank 54_36p -1 reviewed silent c.207 p.P69 1 HMMPfam_CG-1 "HMMPfam_IQ,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_TIG,HMMPfam_CG-1,superfamily_E set domains,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LOC645173 645173 genome.wustl.edu 36 17 49189892 49189892 + RNA SNP C T T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 49189892 49189892 C T SNP LOC645173 XR_017590 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene USP6 9098 genome.wustl.edu 36 17 4976318 4976318 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 4976318 4976318 A T SNP USP6 ENST00000396805 human ensembl 54_36p 1 known missense c.242 p.D81V 0.9 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC" - no_errors ZNF594 84622 genome.wustl.edu 36 17 5026482 5026482 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 5026482 5026482 G A SNP ZNF594 NM_032530 human genbank 54_36p -1 validated silent c.1794 p.C598 0.05 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TOM1L1 10040 genome.wustl.edu 36 17 50348154 50348154 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 50348154 50348154 G A SNP TOM1L1 NM_005486 human genbank 54_36p 1 validated missense c.652 p.V218M 1 "superfamily_SSF89009,HMMPfam_GAT" "superfamily_ENTH_VHS,HMMPfam_VHS,HMMSmart_VHS,superfamily_SSF89009,HMMPfam_GAT" - no_errors HLF 3131 genome.wustl.edu 36 17 50747721 50747721 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 50747721 50747721 C G SNP HLF NM_002126 human genbank 54_36p 1 reviewed missense c.586 p.R196G 1 NULL "HMMSmart_SM00338,HMMPfam_bZIP_2" - no_errors ANKFN1 162282 genome.wustl.edu 36 17 51913086 51913086 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 51913086 51913086 C A SNP ANKFN1 NM_153228 human genbank 54_36p 1 validated missense c.2008 p.H670N 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors AKAP1 8165 genome.wustl.edu 36 17 52549231 52549231 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 52549231 52549231 T A SNP AKAP1 NM_003488 human genbank 54_36p 1 reviewed missense c.2444 p.V815D 1 "HMMPfam_TUDOR,HMMSmart_SM00333" "HMMPfam_RII_binding_1,HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" - no_errors VEZF1 7716 genome.wustl.edu 36 17 53411654 53411654 + Silent SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 53411654 53411654 G A SNP VEZF1 NM_007146 human genbank 54_36p -1 validated silent c.996 p.T332 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors EPX 8288 genome.wustl.edu 36 17 53635665 53635665 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 53635665 53635665 C T SNP EPX NM_000502 human genbank 54_36p 1 validated nonsense c.1933 p.R645* 0.76 "superfamily_Peroxidase_super,HMMPfam_An_peroxidase" "PatternScan_PEROXIDASE_2,superfamily_Peroxidase_super,HMMPfam_An_peroxidase,PatternScan_PEROXIDASE_1" - no_errors MPO 4353 genome.wustl.edu 36 17 53706008 53706008 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 53706008 53706008 G A SNP MPO NM_000250 human genbank 54_36p -1 reviewed silent c.1387 p.L463 1 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase,PatternScan_PEROXIDASE_1" - no_errors PPM1E 22843 genome.wustl.edu 36 17 54397884 54397885 + Missense_Mutation DNP GA GA AG novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GA GA GA AG GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 54397884 54397885 GA AG DNP PPM1E NM_014906 human genbank 54_36p 1 reviewed missense c.631_632 p.E211R 1.000:1.000 superfamily_Protein serine/threonine phosphatase 2C catalytic domain "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C,PatternScan_PP2C" - no_errors TRIM37 4591 genome.wustl.edu 36 17 54483461 54483461 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 54483461 54483461 G C SNP TRIM37 NM_001005207 human genbank 54_36p -1 reviewed missense c.1210 p.R404G 1 "superfamily_TRAF domain-like,HMMPfam_MATH" "superfamily_RING/U-box,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors C17orf71 55181 genome.wustl.edu 36 17 54643302 54643302 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 54643302 54643302 C T SNP C17orf71 NM_018149 human genbank 54_36p 1 validated missense c.1108 p.P370S 0.99 HMMPfam_DUF2146 HMMPfam_DUF2146 - no_errors C17orf71 55181 genome.wustl.edu 36 17 54643790 54643790 + Silent SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 54643790 54643790 T C SNP C17orf71 NM_018149 human genbank 54_36p 1 validated silent c.1596 p.L532 1 HMMPfam_DUF2146 HMMPfam_DUF2146 - no_errors CA4 762 genome.wustl.edu 36 17 55590489 55590490 + Missense_Mutation DNP GG GG TC novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 GG GG GG TC GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 55590489 55590490 GG TC DNP CA4 NM_000717 human genbank 54_36p 1 reviewed missense c.644_645 p.R215I 0.001:0.002 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors LOC729621 729621 genome.wustl.edu 36 17 56159371 56159371 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 56159371 56159371 C T SNP LOC729621 XM_001133900 human genbank 54_36p -1 model silent c.255 p.Q85 1 "superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L44" "superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L44,PatternScan_RIBOSOMAL_L44E" - pseudogene BCAS3 54828 genome.wustl.edu 36 17 56321844 56321844 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 56321844 56321844 A G SNP BCAS3 NM_001099432 human genbank 54_36p 1 validated missense c.668 p.Y223C 1 superfamily_WD40 repeat-like superfamily_WD40 repeat-like - no_errors BCAS3 54828 genome.wustl.edu 36 17 56516669 56516669 + Missense_Mutation SNP A T T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 56516669 56516669 A T SNP BCAS3 NM_001099432 human genbank 54_36p 1 validated missense c.2432 p.D811V 1 NULL superfamily_WD40 repeat-like - no_errors INTS2 57508 genome.wustl.edu 36 17 57301941 57301941 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 57301941 57301941 C A SNP INTS2 NM_020748 human genbank 54_36p -1 validated missense c.2993 p.C998F 1 NULL NULL - no_errors LOC284167 284167 genome.wustl.edu 36 17 57569069 57569069 + RNA SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 57569069 57569069 C A SNP LOC284167 XR_017049 human genbank 54_36p -1 model rna NULL NULL 0.77 - - - pseudogene MRC2 9902 genome.wustl.edu 36 17 58119433 58119433 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 58119433 58119433 G A SNP MRC2 NM_006039 human genbank 54_36p 1 validated missense c.2998 p.A1000T 1 "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" ############################################################################################################################################################################################################################################################### - no_errors CYB561 1534 genome.wustl.edu 36 17 58868567 58868567 + Missense_Mutation SNP A C C novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 58868567 58868567 A C SNP CYB561 NM_001017916 human genbank 54_36p -1 validated missense c.74 p.L25R 0.99 HMMPfam_Cytochrom_B561 "HMMPfam_Cytochrom_B561,HMMSmart_SM00665" - no_errors DCAF7 10238 genome.wustl.edu 36 17 59016391 59016391 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59016391 59016391 C T SNP WDR68 NM_005828 human genbank 54_36p 1 validated missense c.826 p.P276S 1 NULL superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase - pseudogene:no_stop_codon:bad_bp_length_for_coding_region DDX42 11325 genome.wustl.edu 36 17 59249245 59249245 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59249245 59249245 C T SNP DDX42 NM_007372 human genbank 54_36p 1 reviewed missense c.2572 p.R858W 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors ERN1 2081 genome.wustl.edu 36 17 59529239 59529239 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59529239 59529239 C G SNP ERN1 NM_001433 human genbank 54_36p -1 reviewed missense c.149 p.G50A 1 "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ" "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors GEMIN4 50628 genome.wustl.edu 36 17 595930 595930 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 595930 595930 C G SNP GEMIN4 NM_015721 human genbank 54_36p -1 reviewed missense c.2103 p.L701F 0.97 NULL NULL - no_errors PECAM1 5175 genome.wustl.edu 36 17 59779420 59779420 + Splice_Site SNP C C G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59779420 59779420 C G SNP PECAM1 NM_000442 human genbank 54_36p -1 provisional splice_site c.2040-1 e19-1 1 - - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PECAM1 5175 genome.wustl.edu 36 17 59791381 59791381 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59791381 59791381 C T SNP PECAM1 ENST00000375748 human ensembl 54_36p -1 known missense c.130 p.V44I 0 NULL "HMMSmart_IG,superfamily_SSF48726" - no_stop_codon DDX5 1655 genome.wustl.edu 36 17 59926750 59926750 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59926750 59926750 C G SNP DDX5 NM_004396 human genbank 54_36p -1 validated missense c.1598 p.G533A 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_P68HR" - no_errors CCDC45 90799 genome.wustl.edu 36 17 59953772 59953772 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 59953772 59953772 G C SNP CCDC45 NM_138363 human genbank 54_36p 1 provisional missense c.1234 p.D412H 0 NULL NULL - no_errors PRKCA 5578 genome.wustl.edu 36 17 62072044 62072044 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 62072044 62072044 G A SNP PRKCA NM_002737 human genbank 54_36p 1 reviewed missense c.482 p.R161Q 0.99 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ############################################################################################################################################################################################################################################################### - no_errors PITPNM3 83394 genome.wustl.edu 36 17 6312289 6312289 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 6312289 6312289 G A SNP PITPNM3 NM_031220 human genbank 54_36p -1 validated missense c.1870 p.R624W 1 NULL "HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors RNMTL1 55178 genome.wustl.edu 36 17 632586 632586 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 632586 632586 A G SNP RNMTL1 NM_018146 human genbank 54_36p 1 provisional missense c.218 p.K73R 0 NULL "superfamily_SSF55315,HMMPfam_SpoU_sub_bind,superfamily_SSF75217,HMMPfam_SpoU_methylase" - no_errors BPTF 2186 genome.wustl.edu 36 17 63351149 63351150 + Missense_Mutation DNP AG AG CC novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 AG AG AG CC AG AG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 63351149 63351150 AG CC DNP BPTF NM_182641 human genbank 54_36p 1 reviewed missense c.5733_5734 p.V1912L 0.863:0.870 NULL "HMMPfam_FYDLN_acid,HMMPfam_DDT,HMMSmart_DDT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_EGF_2,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors ABCA6 23460 genome.wustl.edu 36 17 64588876 64588876 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 64588876 64588876 G T SNP ABCA6 NM_080284 human genbank 54_36p -1 reviewed missense c.4622 p.S1541Y 0.75 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_errors KCNJ16 3773 genome.wustl.edu 36 17 65639961 65639961 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 65639961 65639961 C T SNP KCNJ16 NM_018658 human genbank 54_36p 1 reviewed silent c.138 p.Y46 1 "superfamily_SSF81324,HMMPfam_IRK" "superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set" - no_errors NXN 64359 genome.wustl.edu 36 17 672422 672422 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 672422 672422 C T SNP NXN NM_022463 human genbank 54_36p -1 validated missense c.638 p.R213Q 1 "superfamily_Thioredoxin-like,HMMPfam_AhpC-TSA" "superfamily_Thioredoxin-like,HMMPfam_AhpC-TSA" - no_errors SLC39A11 201266 genome.wustl.edu 36 17 68539330 68539330 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 68539330 68539330 G A SNP SLC39A11 NM_139177 human genbank 54_36p -1 provisional missense c.266 p.A89V 1 HMMPfam_Zip HMMPfam_Zip - no_errors COG1 9382 genome.wustl.edu 36 17 68708381 68708381 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 68708381 68708381 C G SNP COG1 NM_018714 human genbank 54_36p 1 reviewed missense c.1152 p.D384E 0.98 NULL HMMPfam_Vps51 - no_errors SLC16A11 162515 genome.wustl.edu 36 17 6885879 6885879 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 6885879 6885879 C A SNP SLC16A11 NM_153357 human genbank 54_36p -1 provisional missense c.1259 p.S420I 1 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SDK2 54549 genome.wustl.edu 36 17 68876216 68876216 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 68876216 68876216 C A SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known missense c.4129 p.V1377F 1 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors SDK2 54549 genome.wustl.edu 36 17 68922422 68922422 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 68922422 68922422 C T SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known missense c.1477 p.A493T 0.99 "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors ASGR2 433 genome.wustl.edu 36 17 6946148 6946148 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 6946148 6946148 T C SNP ASGR2 NM_001181 human genbank 54_36p -1 reviewed missense c.755 p.Y252C 0.03 "HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C" "HMMPfam_Lectin_N,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors TTYH2 94015 genome.wustl.edu 36 17 69760048 69760048 + Silent SNP C T T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 69760048 69760048 C T SNP TTYH2 NM_032646 human genbank 54_36p 1 reviewed silent c.1197 p.A399 0.32 HMMPfam_Tweety HMMPfam_Tweety - no_errors DNAI2 64446 genome.wustl.edu 36 17 69797457 69797457 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 69797457 69797457 C T SNP DNAI2 NM_023036 human genbank 54_36p 1 validated silent c.597 p.Y199 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors GPR142 350383 genome.wustl.edu 36 17 69880170 69880170 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 69880170 69880170 G A SNP GPR142 NM_181790 human genbank 54_36p 1 provisional missense c.1225 p.A409T 0.81 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPRC5C 55890 genome.wustl.edu 36 17 69947571 69947571 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 69947571 69947571 G A SNP GPRC5C NM_022036 human genbank 54_36p 1 reviewed missense c.196 p.A66T 0 NULL "HMMPfam_7tm_3,PatternScan_IG_MHC" - no_errors GPRC5C 55890 genome.wustl.edu 36 17 69948051 69948051 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 69948051 69948051 C T SNP GPRC5C NM_022036 human genbank 54_36p 1 reviewed missense c.676 p.R226W 0.94 HMMPfam_7tm_3 "PatternScan_IG_MHC,HMMPfam_7tm_3" - no_errors CD300LB 124599 genome.wustl.edu 36 17 70039181 70039181 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 70039181 70039181 G C SNP CD300LB NM_174892 human genbank 54_36p -1 validated missense c.15 p.C5W 0 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors RAB37 326624 genome.wustl.edu 36 17 70253088 70253088 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 70253088 70253088 G T SNP RAB37 NM_001006638 human genbank 54_36p 1 validated missense c.615 p.Q205H 1 superfamily_SSF52540 "superfamily_SSF52540,HMMPfam_Ras,HMMSmart_RAB" - no_errors OTOP2 92736 genome.wustl.edu 36 17 70438415 70438415 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 70438415 70438415 A G SNP OTOP2 NM_178160 human genbank 54_36p 1 provisional missense c.1090 p.T364A 1 NULL HMMPfam_DUF270 - no_errors OTOP2 92736 genome.wustl.edu 36 17 70441188 70441188 + Missense_Mutation SNP C T T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 70441188 70441188 C T SNP OTOP2 NM_178160 human genbank 54_36p 1 provisional missense c.1642 p.R548C 1 HMMPfam_DUF270 HMMPfam_DUF270 - no_errors OTOP3 347741 genome.wustl.edu 36 17 70455145 70455145 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 70455145 70455145 C T SNP OTOP3 NM_178233 human genbank 54_36p 1 provisional missense c.1600 p.L534F 1 HMMPfam_DUF270 HMMPfam_DUF270 - no_errors ACADVL 37 genome.wustl.edu 36 17 7066241 7066241 + Silent SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7066241 7066241 C T SNP ACADVL NM_000018 human genbank 54_36p 1 reviewed silent c.774 p.I258 1 "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_M" "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2" - no_errors KIAA0195 9772 genome.wustl.edu 36 17 70998423 70998423 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 70998423 70998423 G A SNP KIAA0195 NM_014738 human genbank 54_36p 1 validated missense c.1117 p.V373I 1 NULL superfamily_Calcium ATPase transmembrane domain M - no_errors CLDN7 1366 genome.wustl.edu 36 17 7104913 7104913 + Silent SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7104913 7104913 C A SNP CLDN7 NM_001307 human genbank 54_36p -1 validated silent c.339 p.V113 0.99 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors LLGL2 3993 genome.wustl.edu 36 17 71066945 71066945 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 71066945 71066945 C G SNP LLGL2 NM_001031803 human genbank 54_36p 1 reviewed missense c.389 p.T130R 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LLGL2 3993 genome.wustl.edu 36 17 71072149 71072163 + In_Frame_Del DEL CTTCACTGTCCTCAC CTTCACTGTCCTCAC - novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 CTTCACTGTCCTCAC CTTCACTGTCCTCAC CTTCACTGTCCTCAC - CTTCACTGTCCTCAC CTTCACTGTCCTCAC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 71072149 71072163 CTTCACTGTCCTCAC - DEL LLGL2 NM_001031803 human genbank 54_36p 1 reviewed in_frame_del c.1002_1016 p.FTVLT335in_frame_del 1.000:1.000:1.000:0.990:0.990:0.988:0.954:1.000:1.000:1.000:1.000:0.992:0.000:0.000:0.000 "superfamily_WD40 repeat-like,HMMPfam_LLGL" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40" "(deletion:cds_exon[71072029,71072183])" no_errors UNK 85451 genome.wustl.edu 36 17 71327785 71327785 + Splice_Site SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 71327785 71327785 G C SNP UNK NM_001080419 human genbank 54_36p 1 provisional splice_site c.2065+1 e14+1 1 - - - no_errors SRP68 6730 genome.wustl.edu 36 17 71551517 71551517 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 71551517 71551517 C A SNP SRP68 NM_014230 human genbank 54_36p -1 reviewed missense c.1512 p.K504N 0.82 NULL superfamily_TPR-like - no_errors GPS2 2874 genome.wustl.edu 36 17 7157157 7157157 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7157157 7157157 C T SNP GPS2 NM_004489 human genbank 54_36p -1 reviewed missense c.815 p.R272H 1 NULL NULL - no_errors GPS2 2874 genome.wustl.edu 36 17 7157457 7157470 + Frame_Shift_Del DEL ATAGGGCTGTGGCT ATAGGGCTGTGGCT - novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 ATAGGGCTGTGGCT ATAGGGCTGTGGCT ATAGGGCTGTGGCT - ATAGGGCTGTGGCT ATAGGGCTGTGGCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7157457 7157470 ATAGGGCTGTGGCT - DEL GPS2 NM_004489 human genbank 54_36p -1 reviewed frame_shift_del c.690_677 p.Q226fs 0.594:0.991:1.000:1.000:0.999:0.995:0.996:0.998:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[7157423,7157512])" no_errors RNF157 114804 genome.wustl.edu 36 17 71672458 71672458 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 71672458 71672458 G T SNP RNF157 NM_052916 human genbank 54_36p -1 validated missense c.686 p.T229N 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors QRICH2 84074 genome.wustl.edu 36 17 71799599 71799599 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 71799599 71799599 C A SNP QRICH2 NM_032134 human genbank 54_36p -1 provisional missense c.2306 p.G769V 0.16 NULL NULL - no_errors MFSD11 79157 genome.wustl.edu 36 17 72285944 72285944 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 72285944 72285944 G T SNP MFSD11 NM_024311 human genbank 54_36p 1 provisional missense c.1265 p.G422V 1 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_DUF895" - no_errors SEC14L1 6397 genome.wustl.edu 36 17 72717130 72717130 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 72717130 72717130 G A SNP SEC14L1 NM_001039573 human genbank 54_36p 1 reviewed missense c.1588 p.V530I 1 superfamily_Supernatant protein factor (SPF) C-terminal domain "HMMPfam_PRELI,superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,HMMPfam_CRAL_TRIO,superfamily_Supernatant protein factor (SPF) C-terminal domain" - no_errors SEC14L1 6397 genome.wustl.edu 36 17 72719626 72719627 + Splice_Site DNP GA GA TT novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 72719626 72719627 GA TT DNP SEC14L1 NM_001039573 human genbank 54_36p 1 reviewed splice_site c.1612-1_1612-1 e13-1 1.000:1.000 - - - no_errors TNRC6C 57690 genome.wustl.edu 36 17 73558434 73558434 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 73558434 73558434 G T SNP TNRC6C NM_018996 human genbank 54_36p 1 validated missense c.1696 p.D566Y 1 NULL "HMMPfam_Ago_hook,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" - no_errors DNAH17 8632 genome.wustl.edu 36 17 73934775 73934775 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 73934775 73934775 C T SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.12583 p.V4195M 0.29 HMMPfam_Dynein_heavy "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy" - no_errors DNAH17 8632 genome.wustl.edu 36 17 73999186 73999186 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 73999186 73999186 G A SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known silent c.6588 p.I2196 0.99 "HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH17 8632 genome.wustl.edu 36 17 74008900 74008900 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 74008900 74008900 C A SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.5429 p.G1810V 1 NULL "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SENP3 26168 genome.wustl.edu 36 17 7409800 7409800 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7409800 7409800 G A SNP SENP3 ENST00000321337 human ensembl 54_36p 1 known missense c.1258 p.E420K 1 "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48" "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48" - no_errors LGALS3BP 3959 genome.wustl.edu 36 17 74480227 74480227 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 74480227 74480227 C A SNP LGALS3BP NM_005567 human genbank 54_36p -1 reviewed missense c.784 p.D262Y 0.82 HMMPfam_BACK "superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_BACK" - no_errors C1QTNF1 114897 genome.wustl.edu 36 17 74555347 74555347 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 74555347 74555347 G A SNP C1QTNF1 NM_030968 human genbank 54_36p 1 validated missense c.428 p.S143N 0.96 "HMMSmart_C1Q,superfamily_TNF_like" "HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q" - no_errors ENPP7 339221 genome.wustl.edu 36 17 75319602 75319602 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75319602 75319602 G C SNP ENPP7 NM_178543 human genbank 54_36p 1 validated missense c.106 p.V36L 0.78 "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" - no_errors CCDC40 55036 genome.wustl.edu 36 17 75646936 75646950 + In_Frame_Del DEL ACATGCAGAACATCG ACATGCAGAACATCG - novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 ACATGCAGAACATCG ACATGCAGAACATCG ACATGCAGAACATCG - ACATGCAGAACATCG ACATGCAGAACATCG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75646936 75646950 ACATGCAGAACATCG - DEL CCDC40 NM_017950 human genbank 54_36p 1 validated in_frame_del c.1208_1222 p.MQNID404in_frame_del 1.000:0.997:0.984:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:0.985:0.870:0.980 NULL HMMPfam_BRE1 "(deletion:cds_exon[75646888,75647045])" no_errors CCDC40 55036 genome.wustl.edu 36 17 75676068 75676068 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75676068 75676068 C T SNP CCDC40 NM_017950 human genbank 54_36p 1 validated silent c.2517 p.D839 1 HMMPfam_BRE1 HMMPfam_BRE1 - no_errors EIF4A3 9775 genome.wustl.edu 36 17 75724488 75724488 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75724488 75724488 C G SNP EIF4A3 NM_014740 human genbank 54_36p -1 reviewed missense c.1129 p.A377P 1 superfamily_SSF52540 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors CARD14 79092 genome.wustl.edu 36 17 75783617 75783617 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75783617 75783617 C A SNP CARD14 NM_024110 human genbank 54_36p 1 reviewed silent c.1389 p.S463 0.84 NULL "superfamily_DEATH domain,HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH2 146754 genome.wustl.edu 36 17 7578653 7578653 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7578653 7578653 C G SNP DNAH2 NM_020877 human genbank 54_36p 1 validated missense c.880 p.Q294E 1 HMMPfam_DHC_N1 "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors CARD14 79092 genome.wustl.edu 36 17 75792656 75792656 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75792656 75792656 C T SNP CARD14 NM_024110 human genbank 54_36p 1 reviewed silent c.2319 p.I773 1 NULL "HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RNF213 57674 genome.wustl.edu 36 17 75932281 75932281 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75932281 75932281 C G SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.432 p.F144L 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RNF213 57674 genome.wustl.edu 36 17 75934734 75934734 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75934734 75934734 G T SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.2223 p.K741N 0 NULL "HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box" - no_errors RNF213 57674 genome.wustl.edu 36 17 75964249 75964249 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 17 75964249 75964249 T A SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.7388 p.L2463H 0.51 NULL "HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box" - no_errors RNF213 57674 genome.wustl.edu 36 17 75964828 75964828 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75964828 75964828 G A SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.7537 p.D2513N 0 NULL "HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box" - no_errors RNF213 57674 genome.wustl.edu 36 17 75978453 75978453 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 75978453 75978453 C T SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.9551 p.P3184L 0.47 NULL "HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box" - no_errors DNAH2 146754 genome.wustl.edu 36 17 7601149 7601149 + Silent SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7601149 7601149 C G SNP DNAH2 NM_020877 human genbank 54_36p 1 validated silent c.1920 p.L640 1 HMMPfam_DHC_N1 "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH2 146754 genome.wustl.edu 36 17 7603513 7603513 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7603513 7603513 G A SNP DNAH2 NM_020877 human genbank 54_36p 1 validated missense c.2497 p.E833K 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH2 146754 genome.wustl.edu 36 17 7636358 7636358 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7636358 7636358 C G SNP DNAH2 NM_020877 human genbank 54_36p 1 validated missense c.7117 p.L2373V 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AZI1 22994 genome.wustl.edu 36 17 76788158 76788158 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 76788158 76788158 C A SNP AZI1 NM_014984 human genbank 54_36p -1 validated missense c.979 p.A327S 0.99 NULL NULL - no_errors LSMD1 84316 genome.wustl.edu 36 17 7701360 7701360 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7701360 7701360 G A SNP LSMD1 NM_032356 human genbank 54_36p -1 provisional missense c.107 p.T36I 1 NULL "superfamily_Sm_like_riboprot,HMMPfam_LSM,HMMSmart_Sm" - no_errors ACTG1 71 genome.wustl.edu 36 17 77092914 77092914 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 77092914 77092914 A T SNP ACTG1 NM_001614 human genbank 54_36p -1 reviewed missense c.697 p.S233T 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors HGS 9146 genome.wustl.edu 36 17 77263777 77263777 + Silent SNP G A A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 77263777 77263777 G A SNP HGS NM_004712 human genbank 54_36p 1 provisional silent c.153 p.K51 1 "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288" "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE,HMMPfam_UIM" - no_errors KCNAB3 9196 genome.wustl.edu 36 17 7768240 7768240 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7768240 7768240 C T SNP KCNAB3 NM_004732 human genbank 54_36p -1 reviewed silent c.780 p.L260 1 "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" - no_errors CCDC57 284001 genome.wustl.edu 36 17 77739575 77739575 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 77739575 77739575 C G SNP CCDC57 NM_198082 human genbank 54_36p -1 validated missense c.861 p.E287D 1 NULL NULL - no_errors HEXDC 284004 genome.wustl.edu 36 17 77984922 77984922 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 77984922 77984922 G C SNP HEXDC NM_173620 human genbank 54_36p 1 validated missense c.382 p.A128P 0.71 "HMMPfam_Glyco_hydro_20,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_20,superfamily_Glyco_hydro_cat" - no_errors WDR45L 56270 genome.wustl.edu 36 17 78167729 78167729 + Silent SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 78167729 78167729 C A SNP WDR45L NM_019613 human genbank 54_36p -1 reviewed silent c.888 p.P296 0.79 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320" - no_errors ALOX15B 247 genome.wustl.edu 36 17 7889617 7889617 + Missense_Mutation SNP C T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7889617 7889617 C T SNP ALOX15B NM_001141 human genbank 54_36p 1 reviewed missense c.1088 p.A363V 0.04 "superfamily_Lipoxigenase,HMMPfam_Lipoxygenase" "HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),superfamily_Lipoxigenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2,PatternScan_IG_MHC" - no_errors PFAS 5198 genome.wustl.edu 36 17 8099559 8099559 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8099559 8099559 G A SNP PFAS NM_012393 human genbank 54_36p 1 reviewed silent c.399 p.P133 0 superfamily_PurS-like "superfamily_PurS-like,superfamily_FGAM synthase PurL linker domain,superfamily_PurM N-terminal domain-like,HMMPfam_AIRS,superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C,superfamily_Class I glutamine amidotransferase-like" - no_errors ARHGEF15 22899 genome.wustl.edu 36 17 8156242 8156242 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8156242 8156242 C G SNP ARHGEF15 NM_173728 human genbank 54_36p 1 reviewed missense c.160 p.P54A 0 NULL "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729" - no_errors ARHGEF15 22899 genome.wustl.edu 36 17 8163429 8163429 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8163429 8163429 A G SNP ARHGEF15 NM_173728 human genbank 54_36p 1 reviewed missense c.2261 p.E754G 1 NULL "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,PatternScan_DH_1,superfamily_SSF50729" - no_errors ODF4 146852 genome.wustl.edu 36 17 8189457 8189457 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8189457 8189457 T A SNP ODF4 NM_153007 human genbank 54_36p 1 reviewed missense c.526 p.S176T 0.01 NULL NULL - no_errors MYH10 4628 genome.wustl.edu 36 17 8337021 8337021 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8337021 8337021 T C SNP MYH10 NM_005964 human genbank 54_36p -1 validated missense c.4163 p.E1388G 1 HMMPfam_Myosin_tail_1 "superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors MYH10 4628 genome.wustl.edu 36 17 8362699 8362699 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8362699 8362699 C T SNP MYH10 NM_005964 human genbank 54_36p -1 validated missense c.2386 p.V796I 1 "HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Myosin S1 fragment N-terminal domain,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CCDC42 146849 genome.wustl.edu 36 17 8587687 8587687 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 8587687 8587687 C A SNP CCDC42 NM_144681 human genbank 54_36p -1 provisional missense c.276 p.K92N 1 NULL NULL - no_errors USP43 124739 genome.wustl.edu 36 17 9572024 9572024 + Silent SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 9572024 9572024 G T SNP USP43 NM_153210 human genbank 54_36p 1 validated silent c.2364 p.R788 0.04 NULL "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors ENSG00000196285 0 genome.wustl.edu 36 2 175292945 175292945 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 175292945 175292945 G A SNP ENSG00000196285 ENST00000375183 human ensembl 54_36p 1 known missense c.64 p.A22T 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors LOC100131991 100131991 genome.wustl.edu 36 2 177382523 177382523 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 177382523 177382523 G C SNP LOC100131991 XM_001722203 human genbank 54_36p -1 model missense c.200 p.P67R 0.01 NULL NULL - pseudogene FAM38B 63895 genome.wustl.edu 36 18 10681284 10681284 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 10681284 10681284 G A SNP FAM38B NM_022068 human genbank 54_36p -1 predicted nonsense c.514 p.R172* 0.99 NULL NULL - no_errors LOC729602 729602 genome.wustl.edu 36 18 11619696 11619696 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 18 11619696 11619696 C T SNP LOC729602 XM_001717235 human genbank 54_36p -1 model silent c.141 p.A47 0 HMMPfam_NPIP HMMPfam_NPIP - no_errors GNAL 2774 genome.wustl.edu 36 18 11870995 11870995 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 11870995 11870995 G C SNP GNAL NM_182978 human genbank 54_36p 1 validated missense c.1238 p.S413T 1 "HMMPfam_G-alpha,superfamily_SSF52540" "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" - no_errors LOC728211 728211 genome.wustl.edu 36 18 12065599 12065599 + RNA SNP G A A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 12065599 12065599 G A SNP LOC728211 XR_015403 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC728211 728211 genome.wustl.edu 36 18 12066319 12066319 + RNA SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 12066319 12066319 A T SNP LOC728211 XR_015403 human genbank 54_36p -1 model rna NULL NULL 0.98 - - - pseudogene CIDEA 1149 genome.wustl.edu 36 18 12264107 12264107 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 12264107 12264107 C A SNP CIDEA NM_198289 human genbank 54_36p 1 reviewed missense c.448 p.P150T 0.33 superfamily_SSF54277 "superfamily_SSF54277,HMMPfam_CIDE-N,HMMSmart_CAD" - no_errors C18orf1 753 genome.wustl.edu 36 18 13428245 13428245 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 13428245 13428245 T A SNP C18orf1 NM_181481 human genbank 54_36p 1 validated missense c.43 p.C15S 1 "superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192" "superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors MC5R 4161 genome.wustl.edu 36 18 13816421 13816421 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 13816421 13816421 C T SNP MC5R NM_005913 human genbank 54_36p 1 provisional silent c.657 p.I219 0.59 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MC2R 4158 genome.wustl.edu 36 18 13874639 13874639 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 13874639 13874639 G A SNP MC2R NM_000529 human genbank 54_36p -1 reviewed silent c.879 p.C293 0.07 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LOC646359 646359 genome.wustl.edu 36 18 14367947 14367947 + Silent SNP T T C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 18 14367947 14367947 T C SNP LOC646359 XM_929288 human genbank 54_36p -1 model silent c.816 p.E272 0.01 NULL "superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors ANKRD30B 374860 genome.wustl.edu 36 18 14772535 14772535 + Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 14772535 14772535 G T SNP ANKRD30B ENST00000358984 human ensembl 54_36p 1 known nonsense c.1492 p.E498* 0 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors MIB1 57534 genome.wustl.edu 36 18 17683210 17683210 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 17683210 17683210 G C SNP MIB1 NM_020774 human genbank 54_36p 1 validated missense c.2449 p.E817Q 1 superfamily_SSF57850 "PatternScan_ZF_RING_1,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors RIOK3 8780 genome.wustl.edu 36 18 19313300 19313300 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19313300 19313300 A C SNP RIOK3 NM_003831 human genbank 54_36p 1 reviewed missense c.1366 p.K456Q 0.3 "HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1" "HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1,PatternScan_RIO1" - no_errors C18orf8 29919 genome.wustl.edu 36 18 19354206 19354206 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19354206 19354206 G A SNP C18orf8 NM_013326 human genbank 54_36p 1 validated missense c.892 p.G298S 1 NULL HMMPfam_Mic1 - no_errors NPC1 257641 genome.wustl.edu 36 18 19372552 19372552 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19372552 19372552 A C SNP NPC1 NM_000271 human genbank 54_36p -1 validated missense c.2993 p.F998C 1 HMMPfam_Patched "HMMPfam_Patched,superfamily_SSF82866" - no_errors NPC1 257641 genome.wustl.edu 36 18 19375349 19375349 + Silent SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19375349 19375349 C A SNP NPC1 NM_000271 human genbank 54_36p -1 validated silent c.2292 p.A764 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors ANKRD29 147463 genome.wustl.edu 36 18 19468108 19468108 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19468108 19468108 C T SNP ANKRD29 NM_173505 human genbank 54_36p -1 validated missense c.334 p.G112R 0.99 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank" - no_errors LAMA3 3909 genome.wustl.edu 36 18 19701848 19701848 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19701848 19701848 G A SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.4736 p.R1579Q 0.9 "HMMSmart_SM00281,HMMPfam_Laminin_B" ############################################################################################################################################################################################################################################################### - no_errors LAMA3 3909 genome.wustl.edu 36 18 19741770 19741770 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19741770 19741770 C A SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.6888 p.N2296K 0 HMMPfam_Laminin_II ############################################################################################################################################################################################################################################################### - no_errors LAMA3 3909 genome.wustl.edu 36 18 19765088 19765088 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 19765088 19765088 G T SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.8501 p.S2834I 0 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors OSBPL1A 114876 genome.wustl.edu 36 18 20030112 20030112 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 20030112 20030112 C G SNP OSBPL1A NM_080597 human genbank 54_36p -1 reviewed missense c.1652 p.S551T 1 HMMPfam_Oxysterol_BP "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors OSBPL1A 114876 genome.wustl.edu 36 18 20151128 20151128 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 20151128 20151128 T G SNP OSBPL1A NM_080597 human genbank 54_36p -1 reviewed missense c.853 p.T285P 1 "HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_Oxysterol_BP,HMMSmart_SM00233,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,PatternScan_OSBP,superfamily_PH domain-like" - no_errors HRH4 59340 genome.wustl.edu 36 18 20311168 20311168 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 20311168 20311168 G T SNP HRH4 NM_021624 human genbank 54_36p 1 reviewed missense c.817 p.A273S 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HRH4 59340 genome.wustl.edu 36 18 20311424 20311424 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 20311424 20311424 A T SNP HRH4 NM_021624 human genbank 54_36p 1 reviewed missense c.1073 p.Y358F 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors ZNF521 25925 genome.wustl.edu 36 18 21060155 21060155 + Silent SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 21060155 21060155 A T SNP ZNF521 NM_015461 human genbank 54_36p -1 validated silent c.1725 p.L575 0.96 HMMSmart_SM00355 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CHST9 83539 genome.wustl.edu 36 18 22750325 22750325 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 22750325 22750325 C T SNP CHST9 NM_031422 human genbank 54_36p -1 validated missense c.1228 p.V410M 0.96 HMMPfam_Sulfotransfer_2 HMMPfam_Sulfotransfer_2 - no_errors CHST9 83539 genome.wustl.edu 36 18 22750360 22750360 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 22750360 22750360 C T SNP CHST9 NM_031422 human genbank 54_36p -1 validated missense c.1193 p.R398K 1 HMMPfam_Sulfotransfer_2 HMMPfam_Sulfotransfer_2 - no_errors DSC3 1825 genome.wustl.edu 36 18 26859880 26859880 + Splice_Site SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 26859880 26859880 C A SNP DSC3 NM_001941 human genbank 54_36p -1 reviewed splice_site c.475-1 e5-1 1 - - - no_errors DSC2 1824 genome.wustl.edu 36 18 26920671 26920671 + Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 26920671 26920671 T A SNP DSC2 NM_024422 human genbank 54_36p -1 reviewed nonsense c.808 p.K270* 0.32 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DSC1 1823 genome.wustl.edu 36 18 26968696 26968696 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 26968696 26968696 G T SNP DSC1 NM_024421 human genbank 54_36p -1 reviewed missense c.1713 p.N571K 0.88 "superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1" "HMMPfam_Cadherin_pro,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DSG1 1828 genome.wustl.edu 36 18 27167633 27167633 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 27167633 27167633 C A SNP DSG1 NM_001942 human genbank 54_36p 1 reviewed missense c.768 p.N256K 0.15 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C,PatternScan_PHOSPHOPANTETHEINE" - no_errors DSG1 1828 genome.wustl.edu 36 18 27168027 27168027 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 27168027 27168027 T A SNP DSG1 NM_001942 human genbank 54_36p 1 reviewed missense c.869 p.I290N 0.22 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,PatternScan_PHOSPHOPANTETHEINE,superfamily_Cadherin-like" - no_errors DSG4 147409 genome.wustl.edu 36 18 27247334 27247334 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 27247334 27247334 A T SNP DSG4 NM_177986 human genbank 54_36p 1 validated missense c.2901 p.R967S 0.98 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DSG3 1830 genome.wustl.edu 36 18 27309842 27309842 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 27309842 27309842 C A SNP DSG3 NM_001944 human genbank 54_36p 1 reviewed missense c.2621 p.S874Y 0 NULL "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin,PatternScan_CADHERIN_1" - no_errors DSG2 1829 genome.wustl.edu 36 18 27370347 27370347 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 27370347 27370347 A T SNP DSG2 NM_001943 human genbank 54_36p 1 reviewed missense c.1608 p.K536N 0.96 superfamily_Cadherin "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1" - no_errors TRAPPC8 22878 genome.wustl.edu 36 18 27698596 27698596 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 27698596 27698596 G A SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated silent c.2737 p.L913 1 NULL superfamily_TPR-like - no_errors NOL4 8715 genome.wustl.edu 36 18 29939023 29939023 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 29939023 29939023 T G SNP NOL4 NM_003787 human genbank 54_36p -1 validated missense c.514 p.T172P 1 NULL NULL - no_errors NOL4 8715 genome.wustl.edu 36 18 30057084 30057084 + Missense_Mutation SNP C A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 30057084 30057084 C A SNP NOL4 NM_003787 human genbank 54_36p -1 validated missense c.132 p.E44D 1 NULL NULL - no_errors DTNA 1837 genome.wustl.edu 36 18 30652245 30652245 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 30652245 30652245 G C SNP DTNA NM_001390 human genbank 54_36p 1 reviewed missense c.829 p.G277R 0.98 "HMMSmart_SM00291,HMMPfam_ZZ" "superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors MYOM1 8736 genome.wustl.edu 36 18 3069264 3069264 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 3069264 3069264 G C SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.4561 p.P1521A 1 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set" - no_errors MYOM1 8736 genome.wustl.edu 36 18 3092608 3092608 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 3092608 3092608 T G SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.3439 p.N1147H 0.6 "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors GALNT1 2589 genome.wustl.edu 36 18 31526181 31526181 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 31526181 31526181 G A SNP GALNT1 NM_020474 human genbank 54_36p 1 reviewed missense c.1198 p.V400I 0.78 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors CELF4 56853 genome.wustl.edu 36 18 33399517 33399517 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 33399517 33399517 C G SNP BRUNOL4 NM_020180 human genbank 54_36p -1 reviewed missense c.86 p.S29T 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors COLEC12 81035 genome.wustl.edu 36 18 336824 336824 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 336824 336824 C G SNP COLEC12 NM_130386 human genbank 54_36p -1 validated missense c.798 p.Q266H 1 NULL "HMMPfam_Collagen,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors PIK3C3 5289 genome.wustl.edu 36 18 37854608 37854608 + Silent SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 18 37854608 37854608 C A SNP PIK3C3 NM_002647 human genbank 54_36p 1 validated silent c.1425 p.L475 1 "superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka" "HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors RIT2 6014 genome.wustl.edu 36 18 38808108 38808108 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 38808108 38808108 C T SNP RIT2 NM_002930 human genbank 54_36p -1 provisional missense c.163 p.D55N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors SLC14A2 8170 genome.wustl.edu 36 18 41516374 41516374 + Silent SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 41516374 41516374 G A SNP SLC14A2 NM_007163 human genbank 54_36p 1 validated silent c.2655 p.P885 0.43 NULL "HMMPfam_UT,PatternScan_MULTICOPPER_OXIDASE1" - no_errors PSTPIP2 9050 genome.wustl.edu 36 18 41832788 41832788 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 41832788 41832788 C T SNP PSTPIP2 NM_024430 human genbank 54_36p -1 validated missense c.532 p.A178T 1 NULL "HMMPfam_FCH,HMMSmart_FCH" - no_errors HAUS1 115106 genome.wustl.edu 36 18 41962078 41962078 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 41962078 41962078 A T SNP CCDC5 NM_138443 human genbank 54_36p 1 validated missense c.826 p.M276L 1 NULL NULL - no_errors TCEB3B 51224 genome.wustl.edu 36 18 42814012 42814012 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 42814012 42814012 G T SNP TCEB3B NM_016427 human genbank 54_36p -1 reviewed missense c.1622 p.P541Q 0 NULL "HMMPfam_TFIIS,HMMSmart_TFS2N,HMMPfam_Elongin_A" - no_errors TCEB3B 51224 genome.wustl.edu 36 18 42814047 42814047 + Silent SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 42814047 42814047 C T SNP TCEB3B NM_016427 human genbank 54_36p -1 reviewed silent c.1587 p.L529 0 NULL "HMMSmart_TFS2N,HMMPfam_Elongin_A,HMMPfam_TFIIS" - no_errors KATNAL2 83473 genome.wustl.edu 36 18 42843400 42843400 + Silent SNP A A G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 42843400 42843400 A G SNP KATNAL2 NM_031303 human genbank 54_36p 1 provisional silent c.393 p.E131 0.98 NULL "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA" - no_errors KIAA0427 9811 genome.wustl.edu 36 18 44538502 44538502 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 44538502 44538502 G A SNP KIAA0427 NM_014772 human genbank 54_36p 1 validated missense c.799 p.A267T 0 NULL "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" - no_errors ACAA2 10449 genome.wustl.edu 36 18 45564297 45564297 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 45564297 45564297 C G SNP ACAA2 NM_006111 human genbank 54_36p -1 reviewed missense c.1112 p.R371P 1 "HMMPfam_Thiolase_C,superfamily_Thiolase-like" "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors CCDC11 220136 genome.wustl.edu 36 18 46042428 46042428 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 46042428 46042428 T A SNP CCDC11 NM_145020 human genbank 54_36p -1 validated missense c.229 p.S77C 0.01 NULL NULL - no_errors MBD1 4152 genome.wustl.edu 36 18 46054167 46054167 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 46054167 46054167 C T SNP MBD1 NM_015846 human genbank 54_36p -1 reviewed missense c.1211 p.R404H 0.03 NULL "HMMPfam_MBD,superfamily_DNA-binding domain,HMMSmart_SM00391,HMMPfam_zf-CXXC" - no_errors CXXC1 30827 genome.wustl.edu 36 18 46065702 46065702 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 46065702 46065702 G C SNP CXXC1 NM_001101654 human genbank 54_36p -1 validated missense c.657 p.F219L 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_zf-CXXC" - no_errors SKA1 220134 genome.wustl.edu 36 18 46171614 46171614 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 18 46171614 46171614 G A SNP C18orf24 NM_001039535 human genbank 54_36p 1 validated missense c.572 p.R191K 1 HMMPfam_DUF1395 HMMPfam_DUF1395 - no_errors MEX3C 51320 genome.wustl.edu 36 18 46957664 46957664 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 46957664 46957664 T G SNP MEX3C NM_016626 human genbank 54_36p -1 validated missense c.1035 p.K345N 1 "superfamily_SSF54791,HMMSmart_KH,HMMPfam_KH_1" "PatternScan_ZF_RING_1,HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors DCC 1630 genome.wustl.edu 36 18 48937840 48937840 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 48937840 48937840 C G SNP DCC NM_005215 human genbank 54_36p 1 validated missense c.1378 p.Q460E 1 "HMMSmart_SM00409,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C" - no_errors POLI 11201 genome.wustl.edu 36 18 50054322 50054322 + Silent SNP C A C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C A C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 18 50054322 50054322 C A SNP POLI NM_007195 human genbank 54_36p 1 validated silent c.270 p.T90 1 "superfamily_DNA/RNA polymerases,HMMPfam_IMS" "superfamily_DNA/RNA polymerases,HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain" - no_errors STARD6 147323 genome.wustl.edu 36 18 50105217 50105217 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 50105217 50105217 A G SNP STARD6 NM_139171 human genbank 54_36p -1 provisional missense c.506 p.M169T 1 "superfamily_SSF55961,HMMPfam_START,HMMSmart_START" "superfamily_SSF55961,HMMPfam_START,HMMSmart_START" - no_errors C18orf54 162681 genome.wustl.edu 36 18 50143231 50143231 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 18 50143231 50143231 C G SNP C18orf54 NM_173529 human genbank 54_36p 1 validated missense c.682 p.P228A 1 NULL NULL - no_errors TCF4 6925 genome.wustl.edu 36 18 51046486 51046486 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 51046486 51046486 C A SNP TCF4 NM_001083962 human genbank 54_36p -1 reviewed nonsense c.1984 p.G662* 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors EPB41L3 23136 genome.wustl.edu 36 18 5435240 5435240 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 5435240 5435240 G A SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.385 p.R129C 1 "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N" "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD" - no_errors ALPK2 115701 genome.wustl.edu 36 18 54355093 54355093 + Silent SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 54355093 54355093 C T SNP ALPK2 NM_052947 human genbank 54_36p -1 validated silent c.3306 p.Q1102 0 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase" - no_errors ALPK2 115701 genome.wustl.edu 36 18 54356376 54356376 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 54356376 54356376 C G SNP ALPK2 NM_052947 human genbank 54_36p -1 validated missense c.2023 p.E675Q 0.05 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors LOC728115 728115 genome.wustl.edu 36 18 55834885 55834893 + RNA DEL AAAAAAAAA AAAAAAAAA - novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 AAAAAAAAA AAAAAAAAA AAAAAAAAA - AAAAAAAAA AAAAAAAAA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 55834885 55834893 AAAAAAAAA - DEL LOC728115 XR_038858 human genbank 54_36p -1 model rna NULL NULL 0.023:0.025:0.028:0.029:0.031:0.032:0.033:0.033:0.033 - - "(deletion:rna[55832836,55835854])" pseudogene KIAA1468 57614 genome.wustl.edu 36 18 58045512 58045512 + Nonsense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 58045512 58045512 T G SNP KIAA1468 NM_020854 human genbank 54_36p 1 validated nonsense c.869 p.L290* 1 NULL "HMMSmart_SM00667,superfamily_ARM repeat,HMMPfam_HEAT" - no_errors SERPINB11 89778 genome.wustl.edu 36 18 59541552 59541552 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 59541552 59541552 T A SNP SERPINB11 ENST00000382749 human ensembl 54_36p 1 known missense c.512 p.F171Y 1 "HMMSmart_SM00093,HMMPfam_Serpin,superfamily_Serpins,PatternScan_SERPIN" "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors CDH7 1005 genome.wustl.edu 36 18 61698977 61698977 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 61698977 61698977 C T SNP CDH7 NM_004361 human genbank 54_36p 1 reviewed missense c.2225 p.A742V 1 HMMPfam_Cadherin_C "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH19 28513 genome.wustl.edu 36 18 62329838 62329838 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 62329838 62329838 T A SNP CDH19 NM_021153 human genbank 54_36p -1 reviewed missense c.1523 p.N508I 0.78 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors DSEL 92126 genome.wustl.edu 36 18 63331960 63331961 + Frame_Shift_Del DEL TG TG - novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 18 63331960 63331961 TG - DEL DSEL NM_032160 human genbank 54_36p -1 validated frame_shift_del c.896_895 p.Q299fs 1.000:1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases "(deletion:cds_exon[63329187,63332855])" no_errors TMX3 54495 genome.wustl.edu 36 18 64532110 64532110 + Silent SNP T A A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 18 64532110 64532110 T A SNP TMX3 NM_019022 human genbank 54_36p -1 validated silent c.54 p.V18 0.14 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors CCDC102B 79839 genome.wustl.edu 36 18 64829163 64829163 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 64829163 64829163 C T SNP CCDC102B NM_001093729 human genbank 54_36p 1 validated missense c.1276 p.L426F 0.62 NULL NULL - no_errors LAMA1 284217 genome.wustl.edu 36 18 6989910 6989910 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 18 6989910 6989910 C T SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.4469 p.R1490K 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1" ############################################################################################################################################################################################################################################################### - no_errors LAMA1 284217 genome.wustl.edu 36 18 7005726 7005726 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 7005726 7005726 A T SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.3121 p.C1041S 1 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors ZNF407 55628 genome.wustl.edu 36 18 70718207 70718207 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 18 70718207 70718207 A T SNP ZNF407 NM_017757 human genbank 54_36p 1 provisional missense c.4944 p.K1648N 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00451,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors YES1 7525 genome.wustl.edu 36 18 714573 714573 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 714573 714573 G A SNP YES1 NM_005433 human genbank 54_36p -1 reviewed nonsense c.1483 p.Q495* 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors LRRC30 339291 genome.wustl.edu 36 18 7221563 7221563 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 7221563 7221563 G T SNP LRRC30 NM_001105581 human genbank 54_36p 1 provisional nonsense c.427 p.E143* 1 "superfamily_SSF52058,HMMPfam_LRR_1" "superfamily_SSF52058,HMMPfam_LRR_1" - no_errors ZNF516 9658 genome.wustl.edu 36 18 72220900 72220900 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 72220900 72220900 C G SNP ZNF516 ENST00000217537 human ensembl 54_36p -1 known missense c.2158 p.G720R 0 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF236 7776 genome.wustl.edu 36 18 72692796 72692796 + Silent SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 72692796 72692796 G A SNP ZNF236 NM_007345 human genbank 54_36p 1 validated silent c.270 p.G90 0.99 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF236 7776 genome.wustl.edu 36 18 72800760 72800760 + Missense_Mutation SNP G A A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 72800760 72800760 G A SNP ZNF236 NM_007345 human genbank 54_36p 1 validated missense c.5236 p.G1746R 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors SALL3 27164 genome.wustl.edu 36 18 74858167 74858167 + Missense_Mutation SNP G T T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 74858167 74858167 G T SNP SALL3 NM_171999 human genbank 54_36p 1 validated missense c.3760 p.G1254C 0.86 NULL "HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors ATP9B 374868 genome.wustl.edu 36 18 75164596 75164596 + Silent SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 75164596 75164596 C A SNP ATP9B NM_198531 human genbank 54_36p 1 validated silent c.1416 p.T472 1 "superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2" "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors NFATC1 4772 genome.wustl.edu 36 18 75294569 75294569 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 75294569 75294569 C T SNP NFATC1 NM_172387 human genbank 54_36p 1 reviewed missense c.1190 p.P397L 1 NULL "superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors NFATC1 4772 genome.wustl.edu 36 18 75328608 75328608 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 75328608 75328608 G A SNP NFATC1 NM_172390 human genbank 54_36p 1 reviewed silent c.2130 p.E710 0 NULL "HMMPfam_TIG,HMMSmart_SM00429,superfamily_p53-like transcription factors,HMMPfam_RHD,superfamily_E set domains" - no_errors ADNP2 22850 genome.wustl.edu 36 18 75996890 75996890 + Missense_Mutation SNP G T T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 75996890 75996890 G T SNP ADNP2 NM_014913 human genbank 54_36p 1 validated missense c.2603 p.G868V 0 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00389" - no_errors ADNP2 22850 genome.wustl.edu 36 18 75997035 75997035 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 75997035 75997035 C T SNP ADNP2 NM_014913 human genbank 54_36p 1 validated silent c.2748 p.I916 1 NULL "HMMSmart_SM00389,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors PTPRM 5797 genome.wustl.edu 36 18 7939198 7939198 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 7939198 7939198 C T SNP PTPRM NM_001105244 human genbank 54_36p 1 reviewed missense c.683 p.A228V 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" ############################################################################################################################################################################################################################################################### - no_errors KIAA0802 23255 genome.wustl.edu 36 18 8774735 8774735 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 8774735 8774735 C A SNP KIAA0802 NM_015210 human genbank 54_36p 1 predicted missense c.1625 p.P542H 1 NULL NULL - no_errors KIAA0802 23255 genome.wustl.edu 36 18 8809131 8809131 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 8809131 8809131 G A SNP KIAA0802 NM_015210 human genbank 54_36p 1 predicted silent c.3030 p.K1010 1 NULL NULL - no_errors KIAA0802 23255 genome.wustl.edu 36 18 8816019 8816019 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 8816019 8816019 G T SNP KIAA0802 NM_015210 human genbank 54_36p 1 predicted missense c.4511 p.C1504F 0.11 NULL NULL - no_errors KIAA0802 23255 genome.wustl.edu 36 18 8816031 8816031 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 8816031 8816031 G T SNP KIAA0802 NM_015210 human genbank 54_36p 1 predicted missense c.4523 p.G1508V 0.34 NULL NULL - no_errors NDUFV2 4729 genome.wustl.edu 36 18 9112597 9112597 + Silent SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 9112597 9112597 G A SNP NDUFV2 NM_021074 human genbank 54_36p 1 validated silent c.387 p.K129 1 "HMMPfam_Complex1_24kDa,superfamily_Thiordxn-like_fd" "HMMPfam_Complex1_24kDa,superfamily_Thiordxn-like_fd,PatternScan_COMPLEX1_24K" - no_errors ENSG00000215398 0 genome.wustl.edu 36 14 18188280 18188280 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18188280 18188280 C T SNP ENSG00000215398 ENST00000400208 human ensembl 54_36p 1 known missense c.619 p.R207C 0.02 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE" - no_start_codon LOC100132918 100132918 genome.wustl.edu 36 3 183661550 183661550 + RNA SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 183661550 183661550 G A SNP LOC100132918 XR_042313 human genbank 54_36p -1 model rna NULL NULL 0.08 - - - pseudogene LOC646057 646057 genome.wustl.edu 36 15 18452955 18452955 + Silent SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18452955 18452955 G A SNP LOC646057 XM_001716562 human genbank 54_36p -1 model silent c.684 p.T228 0.98 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors LOC100128765 100128765 genome.wustl.edu 36 13 18601176 18601176 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18601176 18601176 G T SNP LOC100128765 XM_001714904 human genbank 54_36p 1 model missense c.279 p.W93C 0.67 HMMPfam_Mis6 HMMPfam_Mis6 - no_errors P2RY11 5032 genome.wustl.edu 36 19 10085364 10085364 + Silent SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 10085364 10085364 G C SNP P2RY11 NM_002566 human genbank 54_36p 1 reviewed silent c.75 p.G25 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors KRI1 65095 genome.wustl.edu 36 19 10531330 10531330 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 10531330 10531330 T C SNP KRI1 NM_023008 human genbank 54_36p -1 validated missense c.1000 p.R334G 1 NULL HMMPfam_Kri1 - no_errors AP1M2 10053 genome.wustl.edu 36 19 10550606 10550606 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 10550606 10550606 C G SNP AP1M2 NM_005498 human genbank 54_36p -1 reviewed missense c.850 p.E284Q 1 "HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor" "superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,PatternScan_CLAT_ADAPTOR_M_2" - no_errors AP1M2 10053 genome.wustl.edu 36 19 10551457 10551457 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 10551457 10551457 G A SNP AP1M2 NM_005498 human genbank 54_36p -1 reviewed missense c.751 p.R251C 1 "HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor" "HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,PatternScan_CLAT_ADAPTOR_M_2" - no_errors TMED1 11018 genome.wustl.edu 36 19 10806651 10806651 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 10806651 10806651 C T SNP TMED1 NM_006858 human genbank 54_36p -1 reviewed missense c.424 p.E142K 1 HMMPfam_EMP24_GP25L "HMMPfam_EMP24_GP25L,superfamily_SSF101576" - no_errors TMED1 11018 genome.wustl.edu 36 19 10806964 10806964 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 10806964 10806964 G T SNP TMED1 NM_006858 human genbank 54_36p -1 reviewed silent c.249 p.V83 1 "HMMPfam_EMP24_GP25L,superfamily_SSF101576" "HMMPfam_EMP24_GP25L,superfamily_SSF101576" - no_errors SMARCA4 6597 genome.wustl.edu 36 19 10990635 10990635 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 10990635 10990635 C A SNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed missense c.2441 p.T814K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N" ############################################################################################################################################################################################################################################################### - no_errors LDLR 3949 genome.wustl.edu 36 19 11101342 11101342 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11101342 11101342 C T SNP LDLR NM_000527 human genbank 54_36p 1 reviewed missense c.2543 p.P848L 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DOCK6 57572 genome.wustl.edu 36 19 11172437 11172437 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11172437 11172437 C T SNP DOCK6 NM_020812 human genbank 54_36p -1 validated missense c.5894 p.R1965Q 1 HMMPfam_Ded_cyto HMMPfam_Ded_cyto - no_errors RGL3 57139 genome.wustl.edu 36 19 11387798 11387798 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11387798 11387798 C T SNP RGL3 NM_001035223 human genbank 54_36p -1 provisional nonsense c.452 p.W151* 1 "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N" "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMSmart_SM00314,HMMPfam_RA" - no_errors RGL3 57139 genome.wustl.edu 36 19 11388320 11388320 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11388320 11388320 C T SNP RGL3 NM_001035223 human genbank 54_36p -1 provisional silent c.393 p.A131 0 "HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF" "HMMPfam_RA,HMMSmart_SM00314,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_Ubiquitin-like" - no_errors ECSIT 51295 genome.wustl.edu 36 19 11479353 11479353 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11479353 11479353 A G SNP ECSIT NM_016581 human genbank 54_36p -1 validated missense c.970 p.W324R 1 NULL HMMPfam_ECSIT - no_errors ZNF833P 401898 genome.wustl.edu 36 19 11657542 11657542 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11657542 11657542 T A SNP ZNF833 NM_001013691 human genbank 54_36p 1 validated missense c.501 p.S167R 0.01 "superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF491 126069 genome.wustl.edu 36 19 11778171 11778171 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 11778171 11778171 T A SNP ZNF491 NM_152356 human genbank 54_36p 1 validated missense c.403 p.F135I 0 "superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF799 90576 genome.wustl.edu 36 19 12362677 12362677 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12362677 12362677 G T SNP ZNF799 NM_001080821 human genbank 54_36p -1 validated missense c.1535 p.A512D 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF799 90576 genome.wustl.edu 36 19 12363419 12363419 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12363419 12363419 A G SNP ZNF799 NM_001080821 human genbank 54_36p -1 validated missense c.793 p.Y265H 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF791 163049 genome.wustl.edu 36 19 12600521 12600522 + Frame_Shift_Del DEL TC TC - novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 TC TC TC - TC TC Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 12600521 12600522 TC - DEL ZNF791 NM_153358 human genbank 54_36p 1 validated frame_shift_del c.1178_1179 p.F393fs 0.988:0.982 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[12599535,12601074])" no_errors MAN2B1 4125 genome.wustl.edu 36 19 12636790 12636790 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12636790 12636790 T A SNP MAN2B1 NM_000528 human genbank 54_36p -1 reviewed missense c.446 p.E149V 1 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors MAN2B1 4125 genome.wustl.edu 36 19 12637302 12637302 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12637302 12637302 G C SNP MAN2B1 NM_000528 human genbank 54_36p -1 reviewed missense c.300 p.I100M 1 "HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl" "HMMPfam_Glyco_hydro_38,superfamily_Gal_mut_like,superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38C,HMMPfam_Alpha-mann_mid,superfamily_SSF88688" - no_errors TNPO2 30000 genome.wustl.edu 36 19 12675323 12675323 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12675323 12675323 G C SNP TNPO2 NM_013433 human genbank 54_36p -1 validated missense c.2128 p.L710V 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_HEAT" - no_errors ASNA1 439 genome.wustl.edu 36 19 12717529 12717529 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12717529 12717529 C T SNP ASNA1 NM_004317 human genbank 54_36p 1 validated missense c.565 p.R189W 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ArsA_ATPase" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ArsA_ATPase" - no_errors HOOK2 29911 genome.wustl.edu 36 19 12742827 12742827 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12742827 12742827 G A SNP HOOK2 NM_013312 human genbank 54_36p -1 validated missense c.821 p.A274V 0 HMMPfam_HOOK HMMPfam_HOOK - no_errors MAST1 22983 genome.wustl.edu 36 19 12830432 12830432 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12830432 12830432 G C SNP MAST1 NM_014975 human genbank 54_36p 1 provisional missense c.1245 p.Q415H 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors FARSA 2193 genome.wustl.edu 36 19 12902497 12902497 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12902497 12902497 G A SNP FARSA NM_004461 human genbank 54_36p -1 validated missense c.214 p.R72W 1 superfamily_Winged helix DNA-binding domain "superfamily_Winged helix DNA-binding domain,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d" - no_errors DAND5 199699 genome.wustl.edu 36 19 12941509 12941509 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12941509 12941509 T G SNP DAND5 NM_152654 human genbank 54_36p 1 reviewed missense c.35 p.L12R 0.11 NULL HMMPfam_DAN - no_errors CACNA1A 773 genome.wustl.edu 36 19 13186133 13186133 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 13186133 13186133 C T SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known missense c.5857 p.V1953M 1 HMMPfam_Ca_chan_IQ "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1A 773 genome.wustl.edu 36 19 13258396 13258396 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 13258396 13258396 C G SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known missense c.3477 p.K1159N 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1A 773 genome.wustl.edu 36 19 13280060 13280060 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 13280060 13280060 C A SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known missense c.1790 p.W597L 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors C19orf57 79173 genome.wustl.edu 36 19 13867340 13867340 + Silent SNP T T G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 13867340 13867340 T G SNP C19orf57 NM_024323 human genbank 54_36p -1 predicted silent c.51 p.P17 0 NULL NULL - no_errors DCAF15 90379 genome.wustl.edu 36 19 13931608 13931608 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 13931608 13931608 A G SNP LOC90379 NM_138353 human genbank 54_36p 1 predicted silent c.1341 p.T447 0.71 NULL NULL - no_errors LPHN1 22859 genome.wustl.edu 36 19 14124354 14124354 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14124354 14124354 G C SNP LPHN1 NM_001008701 human genbank 54_36p -1 reviewed missense c.3510 p.I1170M 1 HMMPfam_Latrophilin "HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_SM00284,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin" - no_errors DDX39 10212 genome.wustl.edu 36 19 14382893 14382893 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 14382893 14382893 C T SNP DDX39 NM_005804 human genbank 54_36p -1 reviewed missense c.521 p.R174H 1 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors PKN1 5585 genome.wustl.edu 36 19 14441797 14441797 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14441797 14441797 G A SNP PKN1 NM_213560 human genbank 54_36p 1 reviewed missense c.2308 p.E770K 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors EMR3 84658 genome.wustl.edu 36 19 14618991 14618991 + Splice_Site SNP A A C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 14618991 14618991 A C SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed splice_site c.882+2 e8+2 0.86 - - - no_errors EMR3 84658 genome.wustl.edu 36 19 14619092 14619092 + Silent SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14619092 14619092 A G SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed silent c.783 p.D261 0 NULL "HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors EMR3 84658 genome.wustl.edu 36 19 14626803 14626803 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14626803 14626803 C T SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed missense c.568 p.D190N 0 NULL "PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_G_PROTEIN_RECEP_F2_2,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Family A G protein-coupled receptor-like" - no_errors EMR3 84658 genome.wustl.edu 36 19 14633798 14633798 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14633798 14633798 T G SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed missense c.332 p.N111T 0 "HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin" "PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_G_PROTEIN_RECEP_F2_2,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Family A G protein-coupled receptor-like" - no_errors EMR2 30817 genome.wustl.edu 36 19 14723306 14723306 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14723306 14723306 C A SNP EMR2 NM_013447 human genbank 54_36p -1 reviewed missense c.1966 p.A656S 0.85 HMMPfam_7tm_2 "HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors OR7C1 26664 genome.wustl.edu 36 19 14771239 14771239 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14771239 14771239 G A SNP OR7C1 NM_198944 human genbank 54_36p -1 validated missense c.710 p.A237V 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR7C2 26658 genome.wustl.edu 36 19 14913973 14913973 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14913973 14913973 G A SNP OR7C2 NM_012377 human genbank 54_36p 1 provisional missense c.673 p.V225I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SLC1A6 6511 genome.wustl.edu 36 19 14928395 14928395 + Silent SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14928395 14928395 G A SNP SLC1A6 NM_005071 human genbank 54_36p -1 provisional silent c.1062 p.A354 0.01 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors CCDC105 126402 genome.wustl.edu 36 19 14994816 14994816 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 14994816 14994816 G A SNP CCDC105 NM_173482 human genbank 54_36p 1 provisional missense c.1385 p.R462H 1 NULL NULL - no_errors OR1I1 126370 genome.wustl.edu 36 19 15059451 15059451 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15059451 15059451 C T SNP OR1I1 NM_001004713 human genbank 54_36p 1 provisional missense c.575 p.T192M 0.95 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ILVBL 10994 genome.wustl.edu 36 19 15094783 15094783 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15094783 15094783 A T SNP ILVBL NM_006844 human genbank 54_36p -1 reviewed missense c.524 p.F175Y 0.99 "HMMPfam_TPP_enzyme_N,superfamily_Thiamin diphosphate-binding fold (THDP-binding)" "HMMPfam_TPP_enzyme_N,superfamily_Thiamin diphosphate-binding fold (THDP-binding),superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_TPP_enzyme_M,HMMPfam_TPP_enzyme_C,PatternScan_TPP_ENZYMES" - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15137882 15137882 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15137882 15137882 G T SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed missense c.5383 p.L1795M 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" ############################################################################################################################################################################################################################################################### - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15139142 15139142 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15139142 15139142 G C SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed missense c.5280 p.I1760M 1 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15142228 15142228 + Silent SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15142228 15142228 G A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.5028 p.F1676 1 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15142296 15142296 + Silent SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15142296 15142296 G A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.4960 p.L1654 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15159004 15159004 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15159004 15159004 G A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.1752 p.D584 0.99 "HMMSmart_SM00179,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors BRD4 23476 genome.wustl.edu 36 19 15237429 15237429 + Silent SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15237429 15237429 C G SNP BRD4 NM_058243 human genbank 54_36p -1 reviewed silent c.585 p.T195 1 NULL "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BRD4 23476 genome.wustl.edu 36 19 15240765 15240765 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15240765 15240765 C T SNP BRD4 NM_058243 human genbank 54_36p -1 reviewed missense c.374 p.C125Y 1 "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1" "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors AKAP8L 26993 genome.wustl.edu 36 19 15372127 15372127 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15372127 15372127 C A SNP AKAP8L NM_014371 human genbank 54_36p -1 validated missense c.1027 p.G343C 0.92 NULL HMMPfam_AKAP95 - no_errors PGLYRP2 114770 genome.wustl.edu 36 19 15448150 15448150 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15448150 15448150 C A SNP PGLYRP2 NM_052890 human genbank 54_36p -1 validated missense c.331 p.V111L 1 NULL "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" - no_errors CYP4F3 4051 genome.wustl.edu 36 19 15617570 15617570 + Silent SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15617570 15617570 G A SNP CYP4F3 NM_000896 human genbank 54_36p 1 reviewed silent c.240 p.L80 0.99 "superfamily_Cytochrome_P450,HMMPfam_p450" "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors CYP4F3 4051 genome.wustl.edu 36 19 15621867 15621867 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15621867 15621867 C T SNP CYP4F3 NM_000896 human genbank 54_36p 1 reviewed silent c.792 p.H264 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP4F12 66002 genome.wustl.edu 36 19 15654204 15654204 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15654204 15654204 G T SNP CYP4F12 NM_023944 human genbank 54_36p 1 reviewed missense c.531 p.K177N 1 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors OR10H5 284433 genome.wustl.edu 36 19 15765980 15765980 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15765980 15765980 G A SNP OR10H5 NM_001004466 human genbank 54_36p 1 provisional missense c.122 p.G41D 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors CYP4F11 57834 genome.wustl.edu 36 19 15886127 15886127 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15886127 15886127 G A SNP CYP4F11 NM_021187 human genbank 54_36p -1 reviewed missense c.1385 p.S462L 1 "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors OR10H4 126541 genome.wustl.edu 36 19 15921303 15921303 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 15921303 15921303 G A SNP OR10H4 NM_001004465 human genbank 54_36p 1 validated silent c.486 p.T162 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors CIB3 117286 genome.wustl.edu 36 19 16136555 16136555 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16136555 16136555 C T SNP CIB3 NM_054113 human genbank 54_36p -1 reviewed missense c.516 p.M172I 1 superfamily_EF-hand "superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors AP1M1 8907 genome.wustl.edu 36 19 16175300 16175300 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16175300 16175300 G A SNP AP1M1 NM_032493 human genbank 54_36p 1 reviewed missense c.73 p.V25M 1 superfamily_SNARE-like "superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,PatternScan_CLAT_ADAPTOR_M_2" - no_errors AP1M1 8907 genome.wustl.edu 36 19 16206060 16206060 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16206060 16206060 G C SNP AP1M1 NM_032493 human genbank 54_36p 1 reviewed missense c.1224 p.W408C 1 "HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor" "HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,PatternScan_CLAT_ADAPTOR_M_2" - no_errors EPS15L1 58513 genome.wustl.edu 36 19 16333718 16333718 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16333718 16333718 C G SNP EPS15L1 NM_021235 human genbank 54_36p -1 provisional missense c.2458 p.D820H 1 NULL "superfamily_SSF47473,HMMSmart_EH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors EPS15L1 58513 genome.wustl.edu 36 19 16356995 16356995 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16356995 16356995 C G SNP EPS15L1 NM_021235 human genbank 54_36p -1 provisional missense c.2192 p.G731A 1 NULL "HMMSmart_EH,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473" - no_errors CHERP 10523 genome.wustl.edu 36 19 16499986 16499986 + Missense_Mutation SNP C T T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16499986 16499986 C T SNP CHERP NM_006387 human genbank 54_36p -1 validated missense c.1210 p.G404S 0.91 NULL "superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,superfamily_ENTH/VHS domain,HMMPfam_DUF618,HMMSmart_SM00443,HMMPfam_G-patch" - no_errors CHERP 10523 genome.wustl.edu 36 19 16502652 16502652 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16502652 16502652 C A SNP CHERP NM_006387 human genbank 54_36p -1 validated missense c.714 p.Q238H 1 "HMMPfam_DUF618,superfamily_ENTH/VHS domain" "HMMPfam_Surp,HMMSmart_SM00648,HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_DUF618,superfamily_ENTH/VHS domain,superfamily_Surp module (SWAP domain Pfam 01805)" - no_errors MED26 9441 genome.wustl.edu 36 19 16548873 16548873 + Silent SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16548873 16548873 C A SNP MED26 NM_004831 human genbank 54_36p -1 validated silent c.768 p.V256 0.02 NULL "HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMSmart_SM00509" - no_errors NWD1 284434 genome.wustl.edu 36 19 16721175 16721175 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 16721175 16721175 C G SNP NWD1 NM_001007525 human genbank 54_36p 1 validated missense c.317 p.T106S 0.02 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors MYO9B 4650 genome.wustl.edu 36 19 17144721 17144721 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17144721 17144721 G C SNP MYO9B NM_004145 human genbank 54_36p 1 validated missense c.2089 p.V697L 1 "superfamily_SSF52540,HMMSmart_MYSc" "HMMPfam_RA,HMMSmart_RA,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors USHBP1 83878 genome.wustl.edu 36 19 17228458 17228458 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17228458 17228458 C T SNP USHBP1 NM_031941 human genbank 54_36p -1 validated missense c.1292 p.R431H 0.75 NULL HMMPfam_MCC-bdg_PDZ - no_errors C19orf62 29086 genome.wustl.edu 36 19 17243464 17243464 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17243464 17243464 G T SNP C19orf62 NM_001033549 human genbank 54_36p 1 validated missense c.344 p.G115V 1 NULL NULL - no_errors DDA1 79016 genome.wustl.edu 36 19 17286170 17286170 + Silent SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17286170 17286170 G T SNP DDA1 NM_024050 human genbank 54_36p 1 validated silent c.108 p.L36 1 HMMPfam_DDA1 HMMPfam_DDA1 - no_errors ANO8 57719 genome.wustl.edu 36 19 17296902 17296902 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17296902 17296902 C G SNP ANO8 NM_020959 human genbank 54_36p -1 provisional missense c.2955 p.Q985H 1 NULL HMMPfam_DUF590 - no_errors ANO8 57719 genome.wustl.edu 36 19 17299567 17299567 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17299567 17299567 G A SNP ANO8 NM_020959 human genbank 54_36p -1 provisional silent c.2349 p.D783 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors UNC13A 23025 genome.wustl.edu 36 19 17604933 17604933 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17604933 17604933 C T SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional missense c.3549 p.M1183I 1 HMMPfam_DUF1041 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors UNC13A 23025 genome.wustl.edu 36 19 17646509 17646509 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17646509 17646509 C T SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional missense c.373 p.A125T 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_Cysteine-rich domain" - no_errors JAK3 3718 genome.wustl.edu 36 19 17798626 17798626 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17798626 17798626 C T SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed missense c.3301 p.G1101R 0.02 superfamily_Protein kinase-like (PK-like) "HMMSmart_SM00295,superfamily_SH2 domain,HMMSmart_SM00252,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_THIOL_PROTEASE_HIS,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors JAK3 3718 genome.wustl.edu 36 19 17807849 17807849 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17807849 17807849 G A SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed nonsense c.1798 p.Q600* 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00295,superfamily_SH2 domain" - no_errors KCNN1 3780 genome.wustl.edu 36 19 17961588 17961588 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 17961588 17961588 G C SNP KCNN1 NM_002248 human genbank 54_36p 1 reviewed missense c.1234 p.V412L 1 "superfamily_Small-conductance potassium channel,HMMPfam_CaMBD" "HMMPfam_SK_channel,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_Small-conductance potassium channel,HMMPfam_CaMBD" - no_errors MAST3 23031 genome.wustl.edu 36 19 18115610 18115610 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 18115610 18115610 T A SNP MAST3 NM_015016 human genbank 54_36p 1 validated missense c.2290 p.S764T 0.01 NULL "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors PDE4C 5143 genome.wustl.edu 36 19 18188666 18188666 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 18188666 18188666 A G SNP PDE4C NM_000923 human genbank 54_36p -1 validated missense c.1370 p.L457P 1 "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I" "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors FKBP8 23770 genome.wustl.edu 36 19 18510133 18510133 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 18510133 18510133 G C SNP FKBP8 NM_012181 human genbank 54_36p -1 reviewed missense c.665 p.A222G 1 "superfamily_SSF54534,superfamily_SSF48452" "superfamily_SSF54534,HMMPfam_FKBP_C,superfamily_SSF48452,HMMPfam_TPR_1" - no_errors TMEM59L 25789 genome.wustl.edu 36 19 18588888 18588888 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 18588888 18588888 C A SNP TMEM59L NM_012109 human genbank 54_36p 1 reviewed missense c.640 p.P214T 0.53 NULL NULL - no_errors KLHL26 55295 genome.wustl.edu 36 19 18640040 18640040 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 18640040 18640040 G A SNP KLHL26 NM_018316 human genbank 54_36p 1 provisional missense c.833 p.R278H 1 superfamily_Gal_oxid_central "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors COMP 1311 genome.wustl.edu 36 19 18762377 18762377 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 18762377 18762377 C T SNP COMP NM_000095 human genbank 54_36p -1 reviewed missense c.211 p.A71T 1 NULL "PatternScan_EGF_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,superfamily_ConA_like_lec_gl,HMMPfam_TSP_C" - no_errors UPF1 5976 genome.wustl.edu 36 19 18824027 18824027 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 18824027 18824027 C T SNP UPF1 NM_002911 human genbank 54_36p 1 reviewed silent c.894 p.D298 1 NULL "HMMPfam_UPF1_Zn_bind,superfamily_SSF52540,HMMPfam_ResIII" - no_errors RFXANK 8625 genome.wustl.edu 36 19 19171021 19171021 + Silent SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19171021 19171021 C T SNP RFXANK NM_003721 human genbank 54_36p 1 reviewed silent c.690 p.A230 0.69 "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors NCAN 1463 genome.wustl.edu 36 19 19196156 19196156 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19196156 19196156 G A SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.692 p.R231H 1 "superfamily_C-type_lectin_fold,HMMSmart_LINK,HMMPfam_Xlink" ############################################################################################################################################################################################################################################################### - no_errors NCAN 1463 genome.wustl.edu 36 19 19210115 19210115 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 19210115 19210115 T A SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.3304 p.Y1102N 0.97 "HMMSmart_CLECT,superfamily_C-type_lectin_fold" ############################################################################################################################################################################################################################################################### - no_errors BTBD2 55643 genome.wustl.edu 36 19 1948416 1948416 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 1948416 1948416 C T SNP BTBD2 NM_017797 human genbank 54_36p -1 reviewed missense c.454 p.G152R 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,HMMPfam_PHR" - no_errors PBX4 80714 genome.wustl.edu 36 19 19536835 19536835 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19536835 19536835 C G SNP PBX4 NM_025245 human genbank 54_36p -1 reviewed missense c.832 p.E278Q 1 superfamily_Homeodomain-like "HMMPfam_PBC,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors GMIP 51291 genome.wustl.edu 36 19 19606667 19606667 + Silent SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19606667 19606667 C T SNP GMIP NM_016573 human genbank 54_36p -1 reviewed silent c.1821 p.A607 0.33 "superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" "HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889,HMMPfam_C1_1,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors ATP13A1 57130 genome.wustl.edu 36 19 19617787 19617787 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19617787 19617787 G A SNP ATP13A1 NM_020410 human genbank 54_36p -1 validated nonsense c.2902 p.Q968* 0.99 NULL "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660" - no_errors ZNF101 94039 genome.wustl.edu 36 19 19651934 19651934 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19651934 19651934 G T SNP ZNF101 NM_033204 human genbank 54_36p 1 provisional missense c.1136 p.S379I 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF14 7561 genome.wustl.edu 36 19 19684201 19684201 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19684201 19684201 G A SNP ZNF14 NM_021030 human genbank 54_36p -1 reviewed missense c.889 p.H297Y 0.55 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF682 91120 genome.wustl.edu 36 19 19978349 19978349 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 19978349 19978349 G A SNP ZNF682 NM_033196 human genbank 54_36p -1 validated missense c.962 p.A321V 0.03 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF90 7643 genome.wustl.edu 36 19 20077091 20077091 + Silent SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 20077091 20077091 T A SNP ZNF90 ENST00000300996 human ensembl 54_36p 1 known silent c.192 p.T64 0 HMMSmart_SM00349 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_stop_codon LOC649299 649299 genome.wustl.edu 36 19 21208075 21208075 + Silent SNP G G C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 21208075 21208075 G C SNP LOC649299 XM_001719759 human genbank 54_36p 1 model silent c.99 p.L33 1 "superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L44" "superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L44" - pseudogene ZNF493 284443 genome.wustl.edu 36 19 21379800 21379800 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 21379800 21379800 A G SNP ZNF493 NM_001076678 human genbank 54_36p 1 validated missense c.60 p.I20M 0.99 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF493 284443 genome.wustl.edu 36 19 21399223 21399223 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 21399223 21399223 C A SNP ZNF493 NM_001076678 human genbank 54_36p 1 validated missense c.1922 p.S641Y 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF429 353088 genome.wustl.edu 36 19 21505300 21505300 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 21505300 21505300 G C SNP ZNF429 NM_001001415 human genbank 54_36p 1 provisional missense c.200 p.R67P 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF429 353088 genome.wustl.edu 36 19 21512311 21512311 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 21512311 21512311 G A SNP ZNF429 NM_001001415 human genbank 54_36p 1 provisional missense c.1616 p.C539Y 0.03 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF208 7757 genome.wustl.edu 36 19 21946919 21946919 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 21946919 21946919 A G SNP ZNF208 NM_007153 human genbank 54_36p -1 provisional missense c.2459 p.V820A 0.05 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF208 7757 genome.wustl.edu 36 19 21948914 21948914 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 21948914 21948914 C A SNP ZNF208 NM_007153 human genbank 54_36p -1 provisional missense c.762 p.E254D 0 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF98 148198 genome.wustl.edu 36 19 22366456 22366456 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 22366456 22366456 G A SNP ZNF98 NM_001098626 human genbank 54_36p -1 validated missense c.1421 p.S474F 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF492 57615 genome.wustl.edu 36 19 22609118 22609118 + Splice_Site SNP T T A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 22609118 22609118 T A SNP ZNF492 NM_020855 human genbank 54_36p 1 validated splice_site c.1+2 e0+2 0 - - - no_errors LOC646864 646864 genome.wustl.edu 36 19 22832529 22832529 + Silent SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 22832529 22832529 G A SNP LOC646864 XM_001726885 human genbank 54_36p 1 model silent c.1083 p.K361 0.33 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC646864 646864 genome.wustl.edu 36 19 22832856 22832856 + Silent SNP T T G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 22832856 22832856 T G SNP LOC646864 XM_001726885 human genbank 54_36p 1 model silent c.1410 p.T470 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF724P 440519 genome.wustl.edu 36 19 23197370 23197370 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 23197370 23197370 T C SNP ZNF724P ENST00000397097 human ensembl 54_36p -1 known missense c.1181 p.Y394C 0.11 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_start_codon:no_stop_codon ZNF724P 440519 genome.wustl.edu 36 19 23197718 23197718 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 23197718 23197718 C G SNP ZNF724P ENST00000397097 human ensembl 54_36p -1 known missense c.833 p.G278A 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_start_codon:no_stop_codon ZNF91 7644 genome.wustl.edu 36 19 23334796 23334796 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 23334796 23334796 T G SNP ZNF91 NM_003430 human genbank 54_36p -1 validated missense c.2825 p.E942A 0.04 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors ZNF91 7644 genome.wustl.edu 36 19 23337109 23337109 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 23337109 23337109 C G SNP ZNF91 NM_003430 human genbank 54_36p -1 validated missense c.512 p.R171T 0.08 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF675 171392 genome.wustl.edu 36 19 23628887 23628887 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 19 23628887 23628887 A G SNP ZNF675 NM_138330 human genbank 54_36p -1 validated missense c.688 p.C230R 0.11 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors THOP1 7064 genome.wustl.edu 36 19 2745857 2745857 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 2745857 2745857 G A SNP THOP1 NM_003249 human genbank 54_36p 1 provisional missense c.325 p.D109N 1 superfamily_SSF55486 "superfamily_SSF55486,HMMPfam_Peptidase_M3,PatternScan_ZINC_PROTEASE" - no_errors THOP1 7064 genome.wustl.edu 36 19 2750744 2750744 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 2750744 2750744 C A SNP THOP1 NM_003249 human genbank 54_36p 1 provisional missense c.544 p.L182M 1 superfamily_SSF55486 "HMMPfam_Peptidase_M3,PatternScan_ZINC_PROTEASE,superfamily_SSF55486" - no_errors TLE6 79816 genome.wustl.edu 36 19 2942957 2942957 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 2942957 2942957 C A SNP TLE6 NM_024760 human genbank 54_36p 1 validated missense c.992 p.P331H 0.19 superfamily_WD40_like "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40" - no_errors CELF5 60680 genome.wustl.edu 36 19 3233187 3233187 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 3233187 3233187 T C SNP BRUNOL5 NM_021938 human genbank 54_36p 1 reviewed missense c.814 p.F272L 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors LOC727865 727865 genome.wustl.edu 36 19 35139406 35139406 + RNA SNP A A T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 35139406 35139406 A T SNP LOC727865 XR_015160 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene C19orf2 8725 genome.wustl.edu 36 19 35193895 35193895 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 35193895 35193895 G A SNP C19orf2 NM_003796 human genbank 54_36p 1 reviewed missense c.1090 p.E364K 1 NULL "superfamily_Prefoldin,HMMPfam_Prefoldin" - no_errors ZNF536 9745 genome.wustl.edu 36 19 35626475 35626475 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 35626475 35626475 C G SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional missense c.166 p.P56A 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF536 9745 genome.wustl.edu 36 19 35628128 35628128 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 35628128 35628128 T A SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional missense c.1819 p.F607I 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF536 9745 genome.wustl.edu 36 19 35730727 35730727 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 35730727 35730727 C T SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional silent c.2361 p.A787 0.97 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors TSHZ3 57616 genome.wustl.edu 36 19 36459884 36459884 + Silent SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 36459884 36459884 C T SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated silent c.2655 p.S885 0.96 superfamily_Homeodomain_like "PatternScan_HOMEOBOX_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors TSHZ3 57616 genome.wustl.edu 36 19 36461226 36461226 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 36461226 36461226 A G SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated missense c.1313 p.L438P 0.98 NULL "HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1" - no_errors TSHZ3 57616 genome.wustl.edu 36 19 36461918 36461918 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 36461918 36461918 G A SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated silent c.621 p.I207 1 NULL "HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1" - no_errors DPY19L3 147991 genome.wustl.edu 36 19 37664893 37664893 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 37664893 37664893 G A SNP DPY19L3 NM_207325 human genbank 54_36p 1 provisional silent c.2058 p.E686 1 HMMPfam_DUF2211 HMMPfam_DUF2211 - no_errors ANKRD27 84079 genome.wustl.edu 36 19 37788636 37788636 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 37788636 37788636 G A SNP ANKRD27 NM_032139 human genbank 54_36p -1 validated missense c.2438 p.P813L 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD27 84079 genome.wustl.edu 36 19 37814173 37814173 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 37814173 37814173 G A SNP ANKRD27 NM_032139 human genbank 54_36p -1 validated missense c.1184 p.S395L 0.96 superfamily_ANK "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993" - no_errors CCDC123 84902 genome.wustl.edu 36 19 38114236 38114236 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 38114236 38114236 T A SNP CCDC123 NM_032816 human genbank 54_36p -1 validated missense c.968 p.H323L 1 NULL NULL - no_errors CCDC123 84902 genome.wustl.edu 36 19 38116210 38116210 + Silent SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 38116210 38116210 C T SNP CCDC123 NM_032816 human genbank 54_36p -1 validated silent c.873 p.A291 0 NULL NULL - no_errors UBA2 10054 genome.wustl.edu 36 19 39641513 39641513 + Splice_Site SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 39641513 39641513 G T SNP UBA2 NM_005499 human genbank 54_36p 1 validated splice_site c.1246-1 e13-1 1 - - - no_errors ZNF599 148103 genome.wustl.edu 36 19 39941846 39941846 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 39941846 39941846 T C SNP ZNF599 NM_001007248 human genbank 54_36p -1 validated missense c.1700 p.E567G 0.24 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FAM187B 148109 genome.wustl.edu 36 19 40411150 40411150 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40411150 40411150 G A SNP FAM187B NM_152481 human genbank 54_36p -1 provisional missense c.274 p.L92F 0 NULL NULL - no_errors FAM187B 148109 genome.wustl.edu 36 19 40411274 40411274 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40411274 40411274 G T SNP FAM187B NM_152481 human genbank 54_36p -1 provisional missense c.150 p.H50Q 0 NULL NULL - no_errors FFAR3 2865 genome.wustl.edu 36 19 40541728 40541728 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 40541728 40541728 C T SNP FFAR3 NM_005304 human genbank 54_36p 1 validated silent c.96 p.N32 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors COX6B1 1340 genome.wustl.edu 36 19 40831626 40831626 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40831626 40831626 C T SNP COX6B1 ENST00000392201 human ensembl 54_36p 1 known nonsense c.16 p.Q6* 0 NULL "superfamily_Cytochrome c oxidase subunit h,HMMPfam_COX6B" - no_errors ZBTB32 27033 genome.wustl.edu 36 19 40899342 40899342 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40899342 40899342 C A SNP ZBTB32 NM_014383 human genbank 54_36p 1 provisional missense c.1312 p.P438T 1 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MLL4 9757 genome.wustl.edu 36 19 40915407 40915407 + Nonstop_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40915407 40915407 G T SNP MLL4 NM_014727 human genbank 54_36p 1 reviewed nonstop c.6116 p.*2039L 1 NULL "HMMPfam_AT_hook,HMMPfam_zf-CXXC" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSENEN 55851 genome.wustl.edu 36 19 40929526 40929526 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40929526 40929526 C T SNP PSENEN NM_172341 human genbank 54_36p 1 reviewed missense c.244 p.R82W 1 HMMPfam_PEN-2 HMMPfam_PEN-2 - no_errors ARHGAP33 115703 genome.wustl.edu 36 19 40969697 40969697 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40969697 40969697 G A SNP SNX26 NM_052948 human genbank 54_36p 1 reviewed missense c.2002 p.G668S 0.12 NULL "superfamily_PX,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors PRODH2 58510 genome.wustl.edu 36 19 40982818 40982818 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 40982818 40982818 G A SNP PRODH2 NM_021232 human genbank 54_36p -1 reviewed missense c.1573 p.R525W 0 superfamily_SSF51730 "HMMPfam_Pro_dh,superfamily_SSF51730" - no_errors NPHS1 4868 genome.wustl.edu 36 19 41025292 41025292 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 41025292 41025292 C A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated nonsense c.2335 p.G779* 0.75 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors NPHS1 4868 genome.wustl.edu 36 19 41026974 41026974 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 41026974 41026974 G A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated missense c.2083 p.R695W 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors KIRREL2 84063 genome.wustl.edu 36 19 41043070 41043070 + Silent SNP A A G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 41043070 41043070 A G SNP KIRREL2 NM_199180 human genbank 54_36p 1 validated silent c.705 p.P235 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set" - no_errors APLP1 333 genome.wustl.edu 36 19 41061889 41061889 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 41061889 41061889 T A SNP APLP1 NM_001024807 human genbank 54_36p 1 reviewed missense c.1787 p.L596H 0.95 HMMPfam_APP_amyloid ############################################################################################################################################################################################################################################################### - no_errors CREB3L3 84699 genome.wustl.edu 36 19 4108240 4108240 + Silent SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 4108240 4108240 A G SNP CREB3L3 NM_032607 human genbank 54_36p 1 provisional silent c.405 p.T135 0 NULL "superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors CLIP3 25999 genome.wustl.edu 36 19 41200644 41200644 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 41200644 41200644 C T SNP CLIP3 NM_015526 human genbank 54_36p -1 provisional missense c.1273 p.A425T 1 "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors ZNF461 92283 genome.wustl.edu 36 19 41821987 41821987 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 41821987 41821987 C A SNP ZNF461 NM_153257 human genbank 54_36p -1 validated missense c.1100 p.R367M 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF345 25850 genome.wustl.edu 36 19 42059828 42059828 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 42059828 42059828 G A SNP ZNF345 NM_003419 human genbank 54_36p 1 provisional missense c.256 p.G86S 1 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF568 374900 genome.wustl.edu 36 19 42132392 42132392 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 42132392 42132392 C A SNP ZNF568 NM_198539 human genbank 54_36p 1 validated nonsense c.497 p.S166* 0 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF585A 199704 genome.wustl.edu 36 19 42335087 42335087 + Silent SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 42335087 42335087 C T SNP ZNF585A NM_152655 human genbank 54_36p -1 validated silent c.1389 p.G463 0.96 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF527 84503 genome.wustl.edu 36 19 42571282 42571289 + Frame_Shift_Del DEL AATTTAGT AATTTAGT - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 AATTTAGT AATTTAGT AATTTAGT - AATTTAGT AATTTAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 42571282 42571289 AATTTAGT - DEL ZNF527 NM_032453 human genbank 54_36p 1 validated frame_shift_del c.491_498 p.S166fs 0.016:0.011:0.015:0.000:0.000:0.000:0.000:0.000 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[42571048,42572621])" no_errors SH3GL1 6455 genome.wustl.edu 36 19 4313368 4313368 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G A G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 19 4313368 4313368 G A SNP SH3GL1 NM_003025 human genbank 54_36p -1 provisional nonsense c.868 p.R290* 1 NULL "HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors SIPA1L3 23094 genome.wustl.edu 36 19 43302101 43302101 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 43302101 43302101 G A SNP SIPA1L3 NM_015073 human genbank 54_36p 1 validated silent c.2607 p.G869 0.99 NULL "superfamily_SSF111347,HMMPfam_Rap_GAP,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors RYR1 6261 genome.wustl.edu 36 19 43616323 43616323 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 43616323 43616323 A T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.14 p.E5V 1 NULL "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR1 6261 genome.wustl.edu 36 19 43690218 43690218 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 43690218 43690218 C G SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.8843 p.S2948W 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR1 6261 genome.wustl.edu 36 19 43767482 43767482 + Silent SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 43767482 43767482 C T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed silent c.14706 p.I4902 0.96 HMMPfam_Ion_trans "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors EIF3K 27335 genome.wustl.edu 36 19 43801800 43801800 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 43801800 43801800 A G SNP EIF3K NM_013234 human genbank 54_36p 1 validated missense c.52 p.I18V 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_SAC3_GANP,superfamily_Winged helix DNA-binding domain" - no_errors HNRNPL 3191 genome.wustl.edu 36 19 44029855 44029855 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 44029855 44029855 C A SNP HNRNPL NM_001533 human genbank 54_36p -1 reviewed silent c.327 p.L109 1 "superfamily_SSF54928,HMMSmart_RRM" "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors PAK4 10298 genome.wustl.edu 36 19 44360981 44360981 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 44360981 44360981 G A SNP PAK4 NM_001014831 human genbank 54_36p 1 reviewed silent c.1698 p.L566 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors LRFN1 57622 genome.wustl.edu 36 19 44496453 44496453 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 44496453 44496453 T C SNP LRFN1 NM_020862 human genbank 54_36p -1 validated missense c.1364 p.Q455R 1 "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like" "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like" - no_errors MED29 55588 genome.wustl.edu 36 19 44574065 44574065 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 44574065 44574065 G C SNP MED29 NM_017592 human genbank 54_36p 1 provisional missense c.226 p.D76H 1 NULL NULL - no_errors PLIN4 729359 genome.wustl.edu 36 19 4462818 4462818 + Silent SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 4462818 4462818 A G SNP KIAA1881 NM_001080400 human genbank 54_36p -1 provisional silent c.2112 p.S704 0 NULL superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain - no_errors SUPT5H 6829 genome.wustl.edu 36 19 44651282 44651282 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 44651282 44651282 G C SNP SUPT5H NM_003169 human genbank 54_36p 1 validated missense c.1084 p.E362Q 1 NULL "HMMPfam_Supt5,HMMSmart_SM00738,HMMSmart_SM00739,superfamily_Translation proteins SH3-like domain,HMMPfam_KOW" - no_errors SUPT5H 6829 genome.wustl.edu 36 19 44651750 44651750 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 44651750 44651750 C T SNP SUPT5H NM_003169 human genbank 54_36p 1 validated missense c.1246 p.R416W 1 superfamily_Translation proteins SH3-like domain "HMMPfam_Supt5,HMMPfam_KOW,HMMSmart_SM00739,HMMSmart_SM00738,superfamily_Translation proteins SH3-like domain" - no_errors LRG1 116844 genome.wustl.edu 36 19 4489173 4489173 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 4489173 4489173 C T SNP LRG1 NM_052972 human genbank 54_36p -1 validated missense c.823 p.V275M 0 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1" "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT" - no_errors LGALS14 56891 genome.wustl.edu 36 19 44891741 44891741 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 44891741 44891741 T C SNP LGALS14 NM_203471 human genbank 54_36p 1 reviewed missense c.455 p.M152T 0 "superfamily_ConA_like_lec_gl,HMMPfam_Gal-bind_lectin,HMMSmart_GLECT" "superfamily_ConA_like_lec_gl,HMMPfam_Gal-bind_lectin,HMMSmart_GLECT" - no_errors DYRK1B 9149 genome.wustl.edu 36 19 45013171 45013171 + Silent SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45013171 45013171 G A SNP DYRK1B NM_004714 human genbank 54_36p -1 reviewed silent c.156 p.L52 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors FCGBP 8857 genome.wustl.edu 36 19 45046321 45046321 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45046321 45046321 C T SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.15988 p.V5330M 0.01 "HMMSmart_VWD,HMMPfam_VWD" "HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC" - no_errors FCGBP 8857 genome.wustl.edu 36 19 45125384 45125384 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45125384 45125384 A G SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.725 p.L242P 1 NULL "HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL" - no_errors SHKBP1 92799 genome.wustl.edu 36 19 45781214 45781214 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45781214 45781214 G C SNP SHKBP1 NM_138392 human genbank 54_36p 1 validated missense c.1031 p.G344A 1 superfamily_WD40 repeat-like "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1" - no_errors LTBP4 8425 genome.wustl.edu 36 19 45807382 45807382 + Silent SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45807382 45807382 C G SNP LTBP4 ENST00000308370 human ensembl 54_36p 1 known silent c.1734 p.L578 1 "HMMSmart_EGF,HMMPfam_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2" "superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,superfamily_Fibril-assoc,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Grow_fac_recept" - no_errors NUMBL 9253 genome.wustl.edu 36 19 45880683 45880683 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45880683 45880683 G A SNP NUMBL NM_004756 human genbank 54_36p -1 validated missense c.280 p.R94W 1 "superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" "superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID,HMMPfam_NumbF" - no_errors SNRPA 6626 genome.wustl.edu 36 19 45957227 45957227 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45957227 45957227 A G SNP SNRPA NM_004596 human genbank 54_36p 1 provisional missense c.298 p.T100A 1 superfamily_SSF54928 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors CYP2A6 1548 genome.wustl.edu 36 19 46048154 46048154 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46048154 46048154 C T SNP CYP2A6 NM_000762 human genbank 54_36p -1 reviewed missense c.18 p.M6I 0.06 NULL "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2B7P1 1556 genome.wustl.edu 36 19 46139063 46139063 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 46139063 46139063 T C SNP CYP2B7P1 ENST00000330446 human ensembl 54_36p 1 known missense c.668 p.F223S 0.29 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450" - no_errors CYP2B6 1555 genome.wustl.edu 36 19 46210210 46210210 + Nonsense_Mutation SNP C C T rs34097093 Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 19 46210210 46210210 C T SNP CYP2B6 NM_000767 human genbank 54_36p 1 reviewed nonsense c.1132 p.R378* 0.81 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2F1 1572 genome.wustl.edu 36 19 46319722 46319722 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 46319722 46319722 C T SNP CYP2F1 NM_000774 human genbank 54_36p 1 reviewed silent c.666 p.S222 0 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors B9D2 80776 genome.wustl.edu 36 19 46555746 46555746 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46555746 46555746 G T SNP B9D2 NM_030578 human genbank 54_36p -1 provisional nonsense c.110 p.S37* 0.98 HMMPfam_B9 HMMPfam_B9 - no_errors CEACAM21 90273 genome.wustl.edu 36 19 46777611 46777611 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46777611 46777611 C A SNP CEACAM21 NM_001098506 human genbank 54_36p 1 validated missense c.490 p.L164M 0.05 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors CEACAM7 1087 genome.wustl.edu 36 19 46882638 46882638 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 46882638 46882638 T C SNP CEACAM7 NM_006890 human genbank 54_36p -1 provisional missense c.419 p.Y140C 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors CEACAM6 4680 genome.wustl.edu 36 19 46957130 46957130 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46957130 46957130 G A SNP CEACAM6 NM_002483 human genbank 54_36p 1 validated silent c.558 p.P186 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47084732 47084732 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 47084732 47084732 G A SNP ARHGEF1 NM_199002 human genbank 54_36p 1 reviewed missense c.226 p.A76T 1 "HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam" "HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH" - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47090170 47090170 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 47090170 47090170 G A SNP ARHGEF1 NM_199002 human genbank 54_36p 1 reviewed missense c.740 p.R247Q 0.99 "HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam" "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729" - no_errors GRIK5 2901 genome.wustl.edu 36 19 47261337 47261337 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 47261337 47261337 C T SNP GRIK5 NM_002088 human genbank 54_36p -1 reviewed missense c.122 p.R41H 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors CIC 23152 genome.wustl.edu 36 19 47486971 47486971 + Silent SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 47486971 47486971 C A SNP CIC NM_015125 human genbank 54_36p 1 validated silent c.2211 p.A737 1 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors CIC 23152 genome.wustl.edu 36 19 47488302 47488314 + Frame_Shift_Del DEL GTGCAGTCAGCGG GTGCAGTCAGCGG - novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 GTGCAGTCAGCGG GTGCAGTCAGCGG GTGCAGTCAGCGG - GTGCAGTCAGCGG GTGCAGTCAGCGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 47488302 47488314 GTGCAGTCAGCGG - DEL CIC NM_015125 human genbank 54_36p 1 validated frame_shift_del c.3019_3031 p.V1007fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.998:0.974:0.690:0.757 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box" "(deletion:cds_exon[47488292,47488458])" no_errors PSG3 5671 genome.wustl.edu 36 19 47929004 47929004 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 47929004 47929004 C T SNP PSG3 NM_021016 human genbank 54_36p -1 validated missense c.481 p.D161N 0 "superfamily_SSF48726,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2" - no_errors PSG1 5669 genome.wustl.edu 36 19 48068034 48068034 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48068034 48068034 T C SNP PSG1 NM_006905 human genbank 54_36p -1 provisional missense c.434 p.E145G 0.02 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors PSG6 5675 genome.wustl.edu 36 19 48103123 48103123 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48103123 48103123 C T SNP PSG6 NM_002782 human genbank 54_36p -1 provisional missense c.1031 p.R344H 0.01 "superfamily_SSF48726,HMMSmart_IGc2" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2" - no_errors PSG7 5676 genome.wustl.edu 36 19 48121803 48121803 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48121803 48121803 C A SNP PSG7 NM_002783 human genbank 54_36p -1 reviewed missense c.1205 p.G402V 0.01 "superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - pseudogene PSG11 5680 genome.wustl.edu 36 19 48211161 48211161 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 48211161 48211161 C T SNP PSG11 NM_002785 human genbank 54_36p -1 validated missense c.911 p.R304H 0.26 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors PHLDB3 653583 genome.wustl.edu 36 19 48682628 48682628 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48682628 48682628 C T SNP PHLDB3 NM_198850 human genbank 54_36p -1 validated silent c.1401 p.A467 0.48 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors XRCC1 7515 genome.wustl.edu 36 19 48748875 48748875 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48748875 48748875 C G SNP XRCC1 NM_006297 human genbank 54_36p -1 reviewed missense c.737 p.R246T 1 NULL "HMMPfam_XRCC1_N,superfamily_Galactose-binding domain-like,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292" - no_errors IRGQ 126298 genome.wustl.edu 36 19 48791007 48791007 + Silent SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48791007 48791007 G A SNP IRGQ NM_001007561 human genbank 54_36p -1 validated silent c.324 p.T108 0.96 NULL NULL - no_errors IRGC 56269 genome.wustl.edu 36 19 48914940 48914940 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 48914940 48914940 C A SNP IRGC NM_019612 human genbank 54_36p 1 validated missense c.390 p.D130E 0.01 "superfamily_SSF52540,HMMPfam_IIGP" "superfamily_SSF52540,HMMPfam_IIGP" - no_errors ZNF45 7596 genome.wustl.edu 36 19 49114870 49114870 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49114870 49114870 T C SNP ZNF45 NM_003425 human genbank 54_36p -1 provisional missense c.227 p.N76S 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF222 7673 genome.wustl.edu 36 19 49227919 49227919 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49227919 49227919 A C SNP ZNF222 NM_013360 human genbank 54_36p 1 validated missense c.252 p.Q84H 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF224 7767 genome.wustl.edu 36 19 49303508 49303508 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49303508 49303508 G T SNP ZNF224 NM_013398 human genbank 54_36p 1 provisional missense c.1355 p.G452V 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF285 26974 genome.wustl.edu 36 19 49588406 49588406 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49588406 49588406 T C SNP ZNF285A NM_152354 human genbank 54_36p -1 validated missense c.80 p.K27R 0 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF229 7772 genome.wustl.edu 36 19 49626013 49626013 + Silent SNP T T C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49626013 49626013 T C SNP ZNF229 NM_014518 human genbank 54_36p -1 validated silent c.783 p.G261 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF285B 147711 genome.wustl.edu 36 19 49668632 49668632 + RNA SNP A A C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49668632 49668632 A C SNP ZNF285B XR_016906 human genbank 54_36p 1 model rna NULL NULL 0.01 - - - pseudogene ZNF285B 147711 genome.wustl.edu 36 19 49669022 49669022 + RNA SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 49669022 49669022 A G SNP ZNF285B XR_016906 human genbank 54_36p 1 model rna NULL NULL 0.34 - - - pseudogene ZNF285B 147711 genome.wustl.edu 36 19 49669048 49669048 + RNA SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49669048 49669048 T C SNP ZNF285B XR_016906 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene CEACAM16 388551 genome.wustl.edu 36 19 49894554 49894554 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49894554 49894554 G C SNP CEACAM16 NM_001039213 human genbank 54_36p 1 provisional missense c.165 p.L55F 1 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2" - no_errors BCL3 602 genome.wustl.edu 36 19 49951375 49951375 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49951375 49951375 C T SNP BCL3 NM_005178 human genbank 54_36p 1 reviewed missense c.433 p.R145W 0.08 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors CBLC 23624 genome.wustl.edu 36 19 49988631 49988631 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 49988631 49988631 A - DEL CBLC NM_012116 human genbank 54_36p 1 validated frame_shift_del c.1198 p.S400fs 0.98 superfamily_RING/U-box "HMMPfam_Cbl_N,superfamily_N-terminal domain of cbl (N-cbl),HMMPfam_Cbl_N2,superfamily_EF-hand,HMMPfam_Cbl_N3,superfamily_SH2 domain,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" "(deletion:cds_exon[49988571,49988717])" no_errors CLPTM1 1209 genome.wustl.edu 36 19 50169634 50169634 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50169634 50169634 G T SNP CLPTM1 NM_001294 human genbank 54_36p 1 provisional missense c.408 p.W136C 1 HMMPfam_CLPTM1 HMMPfam_CLPTM1 - no_errors RELB 5971 genome.wustl.edu 36 19 50227756 50227756 + Silent SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50227756 50227756 C G SNP RELB NM_006509 human genbank 54_36p 1 validated silent c.1116 p.V372 0 "superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" - no_errors RELB 5971 genome.wustl.edu 36 19 50229366 50229366 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 50229366 50229366 G A SNP RELB NM_006509 human genbank 54_36p 1 validated missense c.1232 p.R411Q 1 superfamily_Ig_E-set "PatternScan_REL_1,HMMPfam_TIG,HMMSmart_IPT,superfamily_P53_like_DNA_bnd,HMMPfam_RHD,superfamily_Ig_E-set" - no_errors FOSB 2354 genome.wustl.edu 36 19 50665942 50665942 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50665942 50665942 T G SNP FOSB NM_006732 human genbank 54_36p 1 reviewed missense c.342 p.S114R 1 NULL "PatternScan_SUBTILASE_SER,HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC" - no_errors RTN2 6253 genome.wustl.edu 36 19 50684493 50684493 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50684493 50684493 G A SNP RTN2 NM_005619 human genbank 54_36p -1 reviewed missense c.1192 p.R398C 1 HMMPfam_Reticulon HMMPfam_Reticulon - no_errors EML2 24139 genome.wustl.edu 36 19 50808770 50808770 + Splice_Site SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50808770 50808770 C T SNP EML2 NM_012155 human genbank 54_36p -1 provisional splice_site c.1694-1 e18-1 1 - - - no_errors SIX5 147912 genome.wustl.edu 36 19 50963225 50963225 + Silent SNP G A A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50963225 50963225 G A SNP SIX5 NM_175875 human genbank 54_36p -1 validated silent c.718 p.L240 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors RSPH6A 81492 genome.wustl.edu 36 19 50995594 50995594 + Silent SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 50995594 50995594 G C SNP RSHL1 NM_030785 human genbank 54_36p -1 reviewed silent c.1866 p.A622 0.14 HMMPfam_Radial_spoke HMMPfam_Radial_spoke - no_errors CCDC61 729440 genome.wustl.edu 36 19 51201717 51201717 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 51201717 51201717 C A SNP CCDC61 NM_001080402 human genbank 54_36p 1 provisional missense c.463 p.R155S 1 NULL NULL - no_errors CCDC8 83987 genome.wustl.edu 36 19 51607209 51607209 + Silent SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 51607209 51607209 G A SNP CCDC8 NM_032040 human genbank 54_36p -1 validated silent c.699 p.S233 0 NULL NULL - no_errors CCDC8 83987 genome.wustl.edu 36 19 51607719 51607719 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 51607719 51607719 G A SNP CCDC8 NM_032040 human genbank 54_36p -1 validated silent c.189 p.T63 1 NULL NULL - no_errors GRLF1 2909 genome.wustl.edu 36 19 52116027 52116027 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52116027 52116027 G T SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed missense c.2255 p.S752I 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors SAE1 10055 genome.wustl.edu 36 19 52364991 52364991 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52364991 52364991 G A SNP SAE1 NM_005500 human genbank 54_36p 1 validated missense c.704 p.R235H 0.99 superfamily_Activating enzymes of the ubiquitin-like proteins "superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF" - no_errors C5AR1 728 genome.wustl.edu 36 19 52514960 52514960 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52514960 52514960 C T SNP C5AR1 NM_001736 human genbank 54_36p 1 validated missense c.86 p.T29I 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors C5AR1 728 genome.wustl.edu 36 19 52515843 52515843 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52515843 52515843 G T SNP C5AR1 NM_001736 human genbank 54_36p 1 validated missense c.969 p.L323F 0.02 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors GPR77 27202 genome.wustl.edu 36 19 52536795 52536795 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52536795 52536795 G T SNP GPR77 NM_018485 human genbank 54_36p 1 provisional missense c.899 p.R300L 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors DHX34 9704 genome.wustl.edu 36 19 52548654 52548654 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52548654 52548654 A C SNP DHX34 NM_014681 human genbank 54_36p 1 reviewed missense c.527 p.K176T 0 "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605,PatternScan_RUBREDOXIN" - no_errors DHX34 9704 genome.wustl.edu 36 19 52553216 52553216 + Splice_Site SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52553216 52553216 G C SNP DHX34 NM_014681 human genbank 54_36p 1 reviewed splice_site c.1272+1 e3+1 1 - - - no_errors EHD2 30846 genome.wustl.edu 36 19 52935970 52935970 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 52935970 52935970 C G SNP EHD2 NM_014601 human genbank 54_36p 1 reviewed missense c.1101 p.D367E 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1" - no_errors SULT2A1 6822 genome.wustl.edu 36 19 53078738 53078738 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 53078738 53078738 T C SNP SULT2A1 NM_003167 human genbank 54_36p -1 validated missense c.253 p.T85A 0 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors PLA2G4C 8605 genome.wustl.edu 36 19 53294818 53294818 + Silent SNP G G T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 53294818 53294818 G T SNP PLA2G4C NM_003706 human genbank 54_36p -1 provisional silent c.369 p.T123 0.25 "HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase" "HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_PLA2_B" - no_errors CCDC114 93233 genome.wustl.edu 36 19 53493149 53493149 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 53493149 53493149 G A SNP CCDC114 NM_144577 human genbank 54_36p -1 validated silent c.690 p.A230 0 NULL NULL - no_errors GRIN2D 2906 genome.wustl.edu 36 19 53614428 53614428 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 53614428 53614428 C T SNP GRIN2D NM_000836 human genbank 54_36p 1 reviewed missense c.1861 p.R621C 1 "superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan" "superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors MAMSTR 284358 genome.wustl.edu 36 19 53908385 53908385 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 53908385 53908385 G A SNP FLJ36070 NM_182574 human genbank 54_36p -1 validated missense c.890 p.S297F 0.97 NULL "superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" - no_errors IZUMO1 284359 genome.wustl.edu 36 19 53936883 53936883 + Silent SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 53936883 53936883 G C SNP IZUMO1 NM_182575 human genbank 54_36p -1 validated silent c.729 p.A243 0.55 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors BCAT2 587 genome.wustl.edu 36 19 54001641 54001641 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 54001641 54001641 G T SNP BCAT2 NM_001190 human genbank 54_36p -1 validated missense c.245 p.P82H 1 superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes "superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes,HMMPfam_Aminotran_4,PatternScan_AA_TRANSFER_CLASS_4" - no_errors CGB5 93659 genome.wustl.edu 36 19 54240166 54240166 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 54240166 54240166 T C SNP CGB5 NM_033043 human genbank 54_36p 1 reviewed missense c.301 p.S101P 1 "superfamily_Cystine-knot cytokines,HMMSmart_SM00068,HMMPfam_Cys_knot" "superfamily_Cystine-knot cytokines,HMMSmart_SM00068,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2" - no_errors TRPM4 54795 genome.wustl.edu 36 19 54384063 54384063 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 54384063 54384063 T C SNP TRPM4 NM_017636 human genbank 54_36p 1 provisional missense c.1922 p.L641P 0.45 NULL HMMPfam_Ion_trans - no_errors SLC6A16 28968 genome.wustl.edu 36 19 54504404 54504404 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 54504404 54504404 G A SNP SLC6A16 NM_014037 human genbank 54_36p -1 validated missense c.953 p.A318V 0.01 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLC17A7 57030 genome.wustl.edu 36 19 54629855 54629855 + Silent SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 54629855 54629855 G A SNP SLC17A7 NM_020309 human genbank 54_36p -1 reviewed silent c.531 p.I177 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors RCN3 57333 genome.wustl.edu 36 19 54729337 54729337 + Silent SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 54729337 54729337 C T SNP RCN3 NM_020650 human genbank 54_36p 1 provisional silent c.318 p.I106 1 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,PatternScan_ER_TARGET" - no_errors MED25 81857 genome.wustl.edu 36 19 55024874 55024874 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55024874 55024874 T C SNP MED25 NM_030973 human genbank 54_36p 1 validated missense c.545 p.I182T 1 NULL NULL - no_errors SIGLEC11 114132 genome.wustl.edu 36 19 55153785 55153785 + Silent SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55153785 55153785 G A SNP SIGLEC11 NM_052884 human genbank 54_36p -1 validated silent c.1254 p.H418 0 "HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMPfam_I-set,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC" - no_errors MYH14 79784 genome.wustl.edu 36 19 55496777 55496777 + Silent SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55496777 55496777 C G SNP MYH14 NM_001077186 human genbank 54_36p 1 reviewed silent c.5418 p.A1806 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_tail_1,superfamily_Prefoldin" - no_errors MYH14 79784 genome.wustl.edu 36 19 55496813 55496813 + Missense_Mutation SNP G T T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55496813 55496813 G T SNP MYH14 NM_001077186 human genbank 54_36p 1 reviewed missense c.5454 p.Q1818H 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYBPC2 4606 genome.wustl.edu 36 19 55631732 55631732 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55631732 55631732 G A SNP MYBPC2 NM_004533 human genbank 54_36p 1 validated missense c.392 p.R131H 0.85 "superfamily_SSF48726,HMMSmart_IG" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2" - no_errors SYT3 84258 genome.wustl.edu 36 19 55827452 55827452 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55827452 55827452 C T SNP SYT3 NM_032298 human genbank 54_36p -1 provisional missense c.577 p.G193R 0 NULL "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SAFB 6294 genome.wustl.edu 36 19 5592841 5592841 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 5592841 5592841 G A SNP SAFB NM_002967 human genbank 54_36p 1 reviewed missense c.430 p.V144I 0.72 NULL "superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors C19orf48 84798 genome.wustl.edu 36 19 55993446 55993446 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 55993446 55993446 C T SNP C19orf48 NM_199249 human genbank 54_36p -1 validated silent c.72 p.G24 0.2 NULL NULL - no_errors KLK3 354 genome.wustl.edu 36 19 56053124 56053124 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56053124 56053124 C A SNP KLK3 NM_001648 human genbank 54_36p 1 reviewed missense c.234 p.H78Q 0.21 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors KLK12 43849 genome.wustl.edu 36 19 56225964 56225964 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56225964 56225964 G A SNP KLK12 NM_145895 human genbank 54_36p -1 reviewed missense c.223 p.P75S 0.97 NULL "HMMPfam_Trypsin,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS" - no_errors SIGLEC8 27181 genome.wustl.edu 36 19 56647504 56647504 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56647504 56647504 C A SNP SIGLEC8 NM_014442 human genbank 54_36p -1 validated missense c.1441 p.A481S 0 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors SIGLEC8 27181 genome.wustl.edu 36 19 56649775 56649775 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56649775 56649775 G T SNP SIGLEC8 NM_014442 human genbank 54_36p -1 validated missense c.1123 p.L375M 0.11 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIGLEC12 89858 genome.wustl.edu 36 19 56693200 56693200 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56693200 56693200 A G SNP SIGLEC12 NM_053003 human genbank 54_36p -1 reviewed missense c.1289 p.V430A 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_ig" - no_errors SIGLEC12 89858 genome.wustl.edu 36 19 56696534 56696534 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56696534 56696534 G A SNP SIGLEC12 NM_053003 human genbank 54_36p -1 reviewed missense c.266 p.T89I 0 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIGLEC6 946 genome.wustl.edu 36 19 56722855 56722855 + Silent SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56722855 56722855 T C SNP SIGLEC6 NM_001245 human genbank 54_36p -1 validated silent c.1113 p.Q371 0 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_I-set,HMMSmart_SM00408,PatternScan_IG_MHC" - no_errors HAS1 3036 genome.wustl.edu 36 19 56911381 56911381 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56911381 56911381 C T SNP HAS1 NM_001523 human genbank 54_36p -1 reviewed missense c.1001 p.C334Y 1 superfamily_SSF53448 "superfamily_SSF53448,HMMPfam_Glycos_transf_2" - no_errors ZNF577 84765 genome.wustl.edu 36 19 57068423 57068423 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57068423 57068423 T C SNP ZNF577 NM_032679 human genbank 54_36p -1 validated missense c.611 p.E204G 1 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF649 65251 genome.wustl.edu 36 19 57092003 57092003 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57092003 57092003 C T SNP ZNF649 NM_023074 human genbank 54_36p -1 provisional nonsense c.56 p.W19* 0.97 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF613 79898 genome.wustl.edu 36 19 57140701 57140701 + Silent SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57140701 57140701 T C SNP ZNF613 NM_001031721 human genbank 54_36p 1 provisional silent c.1753 p.L585 0 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF615 284370 genome.wustl.edu 36 19 57189366 57189366 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57189366 57189366 G A SNP ZNF615 NM_198480 human genbank 54_36p -1 provisional missense c.775 p.H259Y 0.95 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF614 80110 genome.wustl.edu 36 19 57212179 57212179 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57212179 57212179 C T SNP ZNF614 NM_025040 human genbank 54_36p -1 validated missense c.484 p.E162K 0.02 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF614 80110 genome.wustl.edu 36 19 57212247 57212247 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57212247 57212247 G C SNP ZNF614 NM_025040 human genbank 54_36p -1 validated nonsense c.416 p.S139* 0.07 NULL "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors TMEM146 257062 genome.wustl.edu 36 19 5722046 5722046 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 5722046 5722046 G A SNP TMEM146 NM_152784 human genbank 54_36p 1 validated missense c.1726 p.V576I 0.39 NULL NULL - no_errors ZNF841 284371 genome.wustl.edu 36 19 57261726 57261726 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57261726 57261726 G A SNP ZNF841 ENST00000389534 human ensembl 54_36p -1 known silent c.873 p.G291 0.99 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_IG_MHC" - no_errors PPP2R1A 5518 genome.wustl.edu 36 19 57408139 57408139 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57408139 57408139 G T SNP PPP2R1A NM_014225 human genbank 54_36p 1 reviewed missense c.771 p.W257C 1 "superfamily_ARM repeat,HMMPfam_HEAT" "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors ZNF610 162963 genome.wustl.edu 36 19 57548776 57548776 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57548776 57548776 C T SNP ZNF610 NM_173530 human genbank 54_36p 1 provisional silent c.93 p.I31 0.72 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF83 55769 genome.wustl.edu 36 19 57809701 57809701 + RNA SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 57809701 57809701 A C SNP ZNF83 NR_003936 human genbank 54_36p -1 validated rna NULL NULL 0 - - - no_errors ZNF320 162967 genome.wustl.edu 36 19 58078740 58078740 + Missense_Mutation SNP G A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 19 58078740 58078740 G A SNP ZNF320 ENST00000391780 human ensembl 54_36p -1 known missense c.172 p.H58Y 0 "superfamily_Krueppel-associated_box,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" - no_start_codon ZNF677 342926 genome.wustl.edu 36 19 58432476 58432476 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58432476 58432476 G T SNP ZNF677 NM_182609 human genbank 54_36p -1 provisional missense c.1316 p.A439D 0.02 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors VN1R4 317703 genome.wustl.edu 36 19 58462410 58462410 + Silent SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58462410 58462410 G T SNP VN1R4 NM_173857 human genbank 54_36p -1 validated silent c.321 p.I107 0.29 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_V1R" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_V1R" - no_errors VN1R4 317703 genome.wustl.edu 36 19 58462662 58462662 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58462662 58462662 G C SNP VN1R4 NM_173857 human genbank 54_36p -1 validated missense c.69 p.F23L 0 superfamily_Family A G protein-coupled receptor-like "HMMPfam_V1R,superfamily_Family A G protein-coupled receptor-like" - no_errors ZNF525 170958 genome.wustl.edu 36 19 58576422 58576422 + RNA SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58576422 58576422 C T SNP ZNF525 NR_003699 human genbank 54_36p 1 validated rna NULL NULL 0 - - - pseudogene ZNF813 126017 genome.wustl.edu 36 19 58686366 58686366 + Silent SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58686366 58686366 G A SNP ZNF813 NM_001004301 human genbank 54_36p 1 validated silent c.1068 p.K356 0.06 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF813 126017 genome.wustl.edu 36 19 58686814 58686814 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58686814 58686814 C T SNP ZNF813 NM_001004301 human genbank 54_36p 1 validated missense c.1516 p.R506W 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors NLRP12 91662 genome.wustl.edu 36 19 59005210 59005210 + Silent SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59005210 59005210 G A SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed silent c.1515 p.N505 0.18 NULL "HMMPfam_PAAD_DAPIN,superfamily_DEATH domain,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP12 91662 genome.wustl.edu 36 19 59006346 59006346 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59006346 59006346 C T SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed missense c.379 p.E127K 0.28 NULL "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like" - no_errors PRPF31 26121 genome.wustl.edu 36 19 59319829 59319829 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59319829 59319829 C T SNP PRPF31 NM_015629 human genbank 54_36p 1 reviewed silent c.837 p.I279 0.75 "superfamily_Nop domain,HMMPfam_Nop" "HMMPfam_NOSIC,superfamily_Nop domain,HMMPfam_Nop,HMMPfam_Prp31_C" - no_errors LENG1 79165 genome.wustl.edu 36 19 59352576 59352576 + Splice_Site SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59352576 59352576 C T SNP LENG1 NM_024316 human genbank 54_36p -1 provisional splice_site c.313-1 e3-1 1 - - - no_errors LAIR1 3903 genome.wustl.edu 36 19 59559781 59559786 + In_Frame_Del DEL GCTGTG GCTGTG - novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 GCTGTG GCTGTG GCTGTG - GCTGTG GCTGTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59559781 59559786 GCTGTG - DEL LAIR1 NM_002287 human genbank 54_36p -1 reviewed in_frame_del c.622_617 p.PQ206in_frame_del 0.897:0.870:0.822:0.576:0.003:0.000 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409" "(deletion:cds_exon[59559777,59559819])" no_errors LAIR1 3903 genome.wustl.edu 36 19 59559791 59559791 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59559791 59559791 C G SNP LAIR1 NM_002287 human genbank 54_36p -1 reviewed missense c.612 p.Q204H 0 NULL "HMMSmart_SM00409,superfamily_Immunoglobulin" - no_errors LAIR1 3903 genome.wustl.edu 36 19 59563475 59563475 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59563475 59563475 C T SNP LAIR1 NM_002287 human genbank 54_36p -1 reviewed silent c.381 p.P127 0 NULL "HMMSmart_SM00409,superfamily_Immunoglobulin" - no_errors KIR3DX1 90011 genome.wustl.edu 36 19 59736895 59736895 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59736895 59736895 G T SNP KIR3DX1 ENST00000221567 human ensembl 54_36p 1 known missense c.203 p.S68I 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors LILRA2 11027 genome.wustl.edu 36 19 59778192 59778192 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59778192 59778192 A G SNP LILRA2 NM_006866 human genbank 54_36p 1 validated missense c.535 p.I179V 0 "superfamily_SSF48726,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors LILRB4 11006 genome.wustl.edu 36 19 59867610 59867610 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59867610 59867610 G A SNP LILRB4 NM_006847 human genbank 54_36p 1 reviewed missense c.517 p.A173T 0 "superfamily_Immunoglobulin,HMMPfam_ig" "superfamily_Immunoglobulin,HMMPfam_ig" - no_errors LILRB4 11006 genome.wustl.edu 36 19 59871015 59871015 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59871015 59871015 A T SNP LILRB4 NM_006847 human genbank 54_36p 1 reviewed nonsense c.1159 p.K387* 0 NULL "HMMPfam_ig,superfamily_Immunoglobulin" - no_errors LILRB4 11006 genome.wustl.edu 36 19 59871171 59871171 + Silent SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 59871171 59871171 C T SNP LILRB4 NM_006847 human genbank 54_36p 1 reviewed silent c.1236 p.Y412 0.95 NULL "HMMPfam_ig,superfamily_Immunoglobulin" - no_errors KIR3DL3 115653 genome.wustl.edu 36 19 59931137 59931137 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59931137 59931137 T A SNP KIR3DL3 NM_153443 human genbank 54_36p 1 reviewed missense c.604 p.L202I 0 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors KIR2DL3 3804 genome.wustl.edu 36 19 59941855 59941855 + Silent SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 59941855 59941855 T A SNP KIR2DL3 NM_015868 human genbank 54_36p 1 reviewed silent c.33 p.V11 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors KIR2DL3 3804 genome.wustl.edu 36 19 59947246 59947246 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59947246 59947246 G A SNP KIR2DL3 NM_015868 human genbank 54_36p 1 reviewed missense c.562 p.G188S 0 "HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors KIR2DL3 3804 genome.wustl.edu 36 19 59955724 59955724 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 59955724 59955724 C T SNP KIR2DL3 NM_015868 human genbank 54_36p 1 reviewed missense c.967 p.P323S 0.06 NULL "HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors KIR2DL1 3802 genome.wustl.edu 36 19 59993361 59993361 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 59993361 59993361 C G SNP KIR2DL1 ENST00000391730 human ensembl 54_36p 1 known missense c.728 p.S243C 0.74 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG" - no_errors BRSK1 84446 genome.wustl.edu 36 19 60497400 60497400 + Silent SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 60497400 60497400 C A SNP BRSK1 NM_032430 human genbank 54_36p 1 validated silent c.582 p.P194 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors NAT14 57106 genome.wustl.edu 36 19 60689988 60689988 + Missense_Mutation SNP G T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 60689988 60689988 G T SNP NAT14 NM_020378 human genbank 54_36p 1 provisional missense c.474 p.M158I 0.02 superfamily_Acyl_CoA_acyltransferase "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" - no_errors NLRP9 338321 genome.wustl.edu 36 19 60933032 60933032 + Silent SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 60933032 60933032 A T SNP NLRP9 NM_176820 human genbank 54_36p -1 reviewed silent c.1971 p.P657 0 superfamily_RNI-like "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,PatternScan_RIBOSOMAL_S2_1" - no_errors NLRP9 338321 genome.wustl.edu 36 19 60941532 60941532 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 60941532 60941532 C T SNP NLRP9 NM_176820 human genbank 54_36p -1 reviewed silent c.21 p.S7 0.03 "HMMPfam_PAAD_DAPIN,superfamily_DEATH domain" "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,PatternScan_RIBOSOMAL_S2_1,superfamily_RNI-like" - no_errors NLRP13 126204 genome.wustl.edu 36 19 61099174 61099174 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61099174 61099174 C A SNP NLRP13 NM_176810 human genbank 54_36p -1 validated missense c.3081 p.M1027I 0.05 superfamily_SSF52047 "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1" - no_errors NLRP13 126204 genome.wustl.edu 36 19 61114937 61114937 + Silent SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61114937 61114937 C T SNP NLRP13 NM_176810 human genbank 54_36p -1 validated silent c.2058 p.K686 0.04 superfamily_SSF52047 "HMMPfam_LRR_1,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors NLRP13 126204 genome.wustl.edu 36 19 61115783 61115783 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61115783 61115783 T A SNP NLRP13 NM_176810 human genbank 54_36p -1 validated missense c.1212 p.E404D 0 NULL "HMMPfam_LRR_1,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors NLRP8 126205 genome.wustl.edu 36 19 61157935 61157935 + Silent SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61157935 61157935 C T SNP NLRP8 NM_176811 human genbank 54_36p 1 provisional silent c.699 p.Y233 0.01 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT" "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP8 126205 genome.wustl.edu 36 19 61169559 61169559 + Splice_Site SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61169559 61169559 G T SNP NLRP8 NM_176811 human genbank 54_36p 1 provisional splice_site c.2381+1 e5+1 0.02 - - - no_errors NLRP5 126206 genome.wustl.edu 36 19 61231095 61231095 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61231095 61231095 C T SNP NLRP5 NM_153447 human genbank 54_36p 1 reviewed missense c.1627 p.R543C 0.02 NULL "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors ZSCAN5B 342933 genome.wustl.edu 36 19 61395871 61395871 + Silent SNP A A G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61395871 61395871 A G SNP ZSCAN5B NM_001080456 human genbank 54_36p -1 validated silent c.219 p.N73 0 "HMMPfam_SCAN,HMMSmart_SM00431" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF583 147949 genome.wustl.edu 36 19 61617528 61617528 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61617528 61617528 G T SNP ZNF583 NM_152478 human genbank 54_36p 1 provisional missense c.139 p.V47F 0 "superfamily_Krueppel-associated_box,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF470 388566 genome.wustl.edu 36 19 61780271 61780271 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61780271 61780271 A G SNP ZNF470 NM_001001668 human genbank 54_36p 1 validated missense c.662 p.D221G 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZIM2 23619 genome.wustl.edu 36 19 61977939 61977939 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 61977939 61977939 G A SNP ZIM2 NM_015363 human genbank 54_36p -1 provisional nonsense c.1513 p.R505* 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PEG3 5178 genome.wustl.edu 36 19 62017192 62017192 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62017192 62017192 C A SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.4430 p.G1477V 0.8 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PEG3 5178 genome.wustl.edu 36 19 62017244 62017244 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62017244 62017244 C T SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.4378 p.D1460N 0.99 NULL "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors PEG3 5178 genome.wustl.edu 36 19 62020445 62020445 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62020445 62020445 G A SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.1177 p.R393C 1 NULL "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF264 9422 genome.wustl.edu 36 19 62414536 62414536 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62414536 62414536 G A SNP ZNF264 NM_003417 human genbank 54_36p 1 validated missense c.259 p.D87N 0.66 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors AURKC 6795 genome.wustl.edu 36 19 62436712 62436712 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62436712 62436712 G C SNP AURKC NM_001015878 human genbank 54_36p 1 reviewed missense c.508 p.E170Q 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors AURKC 6795 genome.wustl.edu 36 19 62438448 62438448 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62438448 62438448 T G SNP AURKC NM_001015878 human genbank 54_36p 1 reviewed missense c.781 p.S261A 0 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors ZNF304 57343 genome.wustl.edu 36 19 62559698 62559698 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62559698 62559698 T C SNP ZNF304 NM_020657 human genbank 54_36p 1 validated missense c.649 p.Y217H 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,PatternScan_IG_MHC,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors ZNF549 256051 genome.wustl.edu 36 19 62741182 62741182 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 62741182 62741182 T A SNP ZNF549 NM_153263 human genbank 54_36p 1 provisional missense c.959 p.V320E 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF606 80095 genome.wustl.edu 36 19 63181780 63181780 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 63181780 63181780 G A SNP ZNF606 NM_025027 human genbank 54_36p -1 validated missense c.2080 p.H694Y 0.08 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CLPP 8192 genome.wustl.edu 36 19 6319570 6319570 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 6319570 6319570 G A SNP CLPP NM_006012 human genbank 54_36p 1 reviewed missense c.683 p.R228H 1 "superfamily_SSF52096,HMMPfam_CLP_protease" "superfamily_SSF52096,HMMPfam_CLP_protease,PatternScan_CLP_PROTEASE_SER,PatternScan_CLP_PROTEASE_HIS" - no_errors ZNF324B 388569 genome.wustl.edu 36 19 63659017 63659017 + Silent SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 63659017 63659017 G C SNP ZNF324B NM_207395 human genbank 54_36p 1 validated silent c.894 p.S298 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF446 55663 genome.wustl.edu 36 19 63680403 63680403 + Silent SNP A G G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 63680403 63680403 A G SNP ZNF446 NM_017908 human genbank 54_36p 1 provisional silent c.6 p.P2 1 NULL "HMMPfam_SCAN,HMMSmart_SCAN,HMMSmart_KRAB,HMMPfam_KRAB,superfamily_Krueppel-associated_box,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MZF1 7593 genome.wustl.edu 36 19 63774194 63774194 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 63774194 63774194 C T SNP MZF1 NM_003422 human genbank 54_36p -1 validated silent c.375 p.E125 0.32 "HMMPfam_SCAN,HMMSmart_SM00431" "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1" - no_errors C3 718 genome.wustl.edu 36 19 6635793 6635793 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 6635793 6635793 G T SNP C3 NM_000064 human genbank 54_36p -1 reviewed missense c.4022 p.T1341N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors EMR1 2015 genome.wustl.edu 36 19 6870735 6870735 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 6870735 6870735 A G SNP EMR1 NM_001974 human genbank 54_36p 1 reviewed missense c.1597 p.I533V 0 superfamily_Family A G protein-coupled receptor-like ############################################################################################################################################################################################################################################################### - no_errors EMR1 2015 genome.wustl.edu 36 19 6877553 6877553 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 6877553 6877553 G A SNP EMR1 NM_001974 human genbank 54_36p 1 reviewed silent c.2163 p.P721 0.97 "HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like" ############################################################################################################################################################################################################################################################### - no_errors EMR4P 326342 genome.wustl.edu 36 19 6932089 6932090 + Splice_Site INS - - C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 - - - C - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 6932089 6932090 - C INS EMR4P ENST00000359590 human ensembl 54_36p -1 known splice_site_ins c.541+1_541+1 e6+1 0.776:0.771 - - - no_errors EMR4P 326342 genome.wustl.edu 36 19 6941796 6941796 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 6941796 6941796 A G SNP EMR4P ENST00000359590 human ensembl 54_36p -1 known missense c.14 p.F5S 0.01 NULL "PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors ZNF557 79230 genome.wustl.edu 36 19 7034614 7034614 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 7034614 7034614 C T SNP ZNF557 NM_001044387 human genbank 54_36p 1 validated silent c.1152 p.S384 0.24 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors INSR 3643 genome.wustl.edu 36 19 7068339 7068339 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 7068339 7068339 C A SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.3877 p.D1293Y 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors ARHGEF18 23370 genome.wustl.edu 36 19 7429469 7429469 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 7429469 7429469 G T SNP ARHGEF18 NM_015318 human genbank 54_36p 1 reviewed missense c.1215 p.M405I 1 "HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH" "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH" - no_errors C19orf45 374877 genome.wustl.edu 36 19 7476999 7476999 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 7476999 7476999 G A SNP C19orf45 NM_198534 human genbank 54_36p 1 validated silent c.1113 p.Q371 0 NULL NULL - no_errors C19orf45 374877 genome.wustl.edu 36 19 7477020 7477020 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 7477020 7477020 G A SNP C19orf45 NM_198534 human genbank 54_36p 1 validated silent c.1134 p.L378 0 NULL NULL - no_errors PNPLA6 10908 genome.wustl.edu 36 19 7520842 7520842 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 7520842 7520842 G A SNP PNPLA6 NM_006702 human genbank 54_36p 1 validated missense c.1541 p.R514H 1 "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_Patatin,PatternScan_UPF0028" - no_errors PNPLA6 10908 genome.wustl.edu 36 19 7525516 7525516 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 7525516 7525516 C T SNP PNPLA6 NM_006702 human genbank 54_36p 1 validated silent c.2427 p.D809 0.91 NULL "HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_UPF0028,HMMPfam_Patatin,superfamily_Acyl_Trfase/lysoPlipase,superfamily_cNMP_binding" - no_errors PTBP1 5725 genome.wustl.edu 36 19 756531 756531 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 756531 756531 C T SNP PTBP1 NM_002819 human genbank 54_36p 1 reviewed missense c.932 p.A311V 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors STXBP2 6813 genome.wustl.edu 36 19 7611910 7611910 + Silent SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 7611910 7611910 G T SNP STXBP2 ENST00000320400 human ensembl 54_36p 1 known silent c.1011 p.L337 0.07 NULL "PatternScan_VWFC_1,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" - no_start_codon FBN3 84467 genome.wustl.edu 36 19 8061128 8061128 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8061128 8061128 C G SNP FBN3 ENST00000341066 human ensembl 54_36p -1 known missense c.398 p.G133A 0.98 NULL "PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_TB module/8-cys domain,HMMPfam_TB" - no_errors FBN3 84467 genome.wustl.edu 36 19 8097368 8097368 + Silent SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8097368 8097368 G A SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed silent c.2538 p.C846 1 "HMMPfam_TB,superfamily_TB module/8-cys domain" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors FBN3 84467 genome.wustl.edu 36 19 8107405 8107405 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8107405 8107405 G A SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed silent c.1212 p.T404 0.12 NULL "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors FBN3 84467 genome.wustl.edu 36 19 8112902 8112902 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8112902 8112902 G A SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed missense c.661 p.P221S 1 "HMMPfam_TB,superfamily_TB module/8-cys domain" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors LASS4 79603 genome.wustl.edu 36 19 8228867 8228867 + Silent SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8228867 8228867 C A SNP LASS4 NM_024552 human genbank 54_36p 1 validated silent c.846 p.T282 0.78 "HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" "superfamily_Homeodomain-like,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" - no_errors ANGPTL4 51129 genome.wustl.edu 36 19 8337185 8337185 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8337185 8337185 A C SNP ANGPTL4 NM_139314 human genbank 54_36p 1 reviewed missense c.529 p.N177H 0.04 superfamily_Fibrinogen_a/b/g_C "superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors MARCH2 51257 genome.wustl.edu 36 19 8397561 8397561 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8397561 8397561 G C SNP MARCH2 NM_001005415 human genbank 54_36p 1 validated missense c.245 p.C82S 1 "superfamily_SSF57850,HMMSmart_RINGv,HMMPfam_zf-C3HC4" "superfamily_SSF57850,HMMSmart_RINGv,HMMPfam_zf-C3HC4" - no_errors MYO1F 4542 genome.wustl.edu 36 19 8493323 8493323 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 8493323 8493323 A G SNP MYO1F NM_012335 human genbank 54_36p -1 provisional missense c.3158 p.V1053A 0.12 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors MYO1F 4542 genome.wustl.edu 36 19 8526639 8526639 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8526639 8526639 C G SNP MYO1F NM_012335 human genbank 54_36p -1 provisional missense c.45 p.K15N 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_TH1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MUC16 94025 genome.wustl.edu 36 19 8837817 8837817 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8837817 8837817 G A SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.42249 p.I14083 1 "superfamily_SEA domain,HMMPfam_SEA" "PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_errors MUC16 94025 genome.wustl.edu 36 19 8854365 8854371 + Splice_Site DEL CCGCTCA CCGCTCA - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 CCGCTCA CCGCTCA CCGCTCA - CCGCTCA CCGCTCA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8854365 8854371 CCGCTCA - DEL MUC16 NM_024690 human genbank 54_36p -1 validated splice_site_del c.41716+2_41716+1 e66+2 0.000:0.001:0.004:0.244:0.794:0.911:0.982 - - "(deletion:intron[8854043,8854372])" no_errors MUC16 94025 genome.wustl.edu 36 19 8854503 8854503 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8854503 8854503 G T SNP MUC16 NM_024690 human genbank 54_36p -1 validated nonsense c.41586 p.C13862* 0.37 "HMMPfam_SEA,superfamily_SEA domain" "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 genome.wustl.edu 36 19 8859702 8859702 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8859702 8859702 G A SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.40881 p.P13627 0 superfamily_SEA domain "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 genome.wustl.edu 36 19 8929974 8929974 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8929974 8929974 G T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.18472 p.Q6158K 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 genome.wustl.edu 36 19 8933137 8933137 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8933137 8933137 C G SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.15309 p.K5103N 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 genome.wustl.edu 36 19 8934638 8934638 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8934638 8934638 C T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.13808 p.R4603Q 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 genome.wustl.edu 36 19 8936296 8936296 + Missense_Mutation SNP T A T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 19 8936296 8936296 T A SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.12150 p.E4050D 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 genome.wustl.edu 36 19 8950509 8950509 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 8950509 8950509 A T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.2306 p.V769D 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors OR7G1 125962 genome.wustl.edu 36 19 9086597 9086597 + Silent SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9086597 9086597 G T SNP OR7G1 NM_001005192 human genbank 54_36p -1 provisional silent c.843 p.V281 0.47 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR7G3 390883 genome.wustl.edu 36 19 9098569 9098569 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9098569 9098569 C A SNP OR7G3 NM_001001958 human genbank 54_36p -1 provisional missense c.58 p.D20Y 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR7D2 162998 genome.wustl.edu 36 19 9157785 9157785 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9157785 9157785 C G SNP OR7D2 NM_175883 human genbank 54_36p 1 provisional missense c.328 p.L110V 0 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF177 7730 genome.wustl.edu 36 19 9353249 9353249 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9353249 9353249 C G SNP ZNF177 NM_003451 human genbank 54_36p 1 provisional missense c.762 p.H254Q 0.07 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF426 79088 genome.wustl.edu 36 19 9502741 9502741 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9502741 9502741 A G SNP ZNF426 NM_024106 human genbank 54_36p -1 provisional missense c.328 p.W110R 0.03 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00614" - no_errors ZNF561 93134 genome.wustl.edu 36 19 9582465 9582465 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9582465 9582465 C G SNP ZNF561 NM_152289 human genbank 54_36p -1 validated missense c.665 p.R222T 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF812 729648 genome.wustl.edu 36 19 9665486 9665486 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9665486 9665486 G A SNP ZNF812 XM_001726949 human genbank 54_36p -1 model missense c.125 p.T42M 0.04 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region COL5A3 50509 genome.wustl.edu 36 19 9932135 9932135 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 19 9932135 9932135 C T SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed silent c.5190 p.T1730 0.13 "HMMSmart_SM00038,HMMPfam_COLFI" "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL5A3 50509 genome.wustl.edu 36 19 9946074 9946074 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9946074 9946074 C G SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.3353 p.G1118A 0.99 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors COL5A3 50509 genome.wustl.edu 36 19 9958016 9958016 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9958016 9958016 C G SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.2327 p.G776A 0.96 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors RDH8 50700 genome.wustl.edu 36 19 9988889 9988889 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 9988889 9988889 T A SNP RDH8 NM_015725 human genbank 54_36p 1 validated missense c.260 p.L87Q 1 "superfamily_NAD(P)-bd,HMMPfam_adh_short" "superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors ENSG00000161149 0 genome.wustl.edu 36 22 19693539 19693539 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 19693539 19693539 C T SNP ENSG00000161149 ENST00000292748 human ensembl 54_36p -1 known silent c.321 p.T107 1 "superfamily_Tubulin_FtsZ,HMMPfam_Tubulin" "superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN" - no_errors LOC100133326 100133326 genome.wustl.edu 36 3 197149395 197149395 + RNA SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197149395 197149395 C T SNP LOC100133326 XR_037589 human genbank 54_36p 1 model rna NULL NULL 0.18 - - - pseudogene LOC100128975 100128975 genome.wustl.edu 36 19 19909009 19909009 + Silent SNP G A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 19 19909009 19909009 G A SNP LOC100128975 XM_001719745 human genbank 54_36p -1 model silent c.279 p.V93 0 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" - no_errors LOC642131 642131 genome.wustl.edu 36 15 19974526 19974526 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19974526 19974526 G T SNP LOC642131 XM_001716834 human genbank 54_36p -1 model missense c.130 p.L44M 0.6 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors CHST10 9486 genome.wustl.edu 36 2 100380953 100380953 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 100380953 100380953 G T SNP CHST10 NM_004854 human genbank 54_36p -1 validated nonsense c.276 p.C92* 1 HMMPfam_Sulfotransfer_2 HMMPfam_Sulfotransfer_2 - no_errors NMS 129521 genome.wustl.edu 36 2 100463390 100463390 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 100463390 100463390 G T SNP NMS NM_001011717 human genbank 54_36p 1 provisional missense c.337 p.G113C 0.03 NULL PatternScan_NMU - no_errors NPAS2 4862 genome.wustl.edu 36 2 100931172 100931172 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 100931172 100931172 A G SNP NPAS2 NM_002518 human genbank 54_36p 1 reviewed missense c.407 p.Q136R 1 "HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785" "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC" - no_errors TBC1D8 11138 genome.wustl.edu 36 2 101021355 101021355 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 101021355 101021355 C A SNP TBC1D8 NM_001102426 human genbank 54_36p -1 validated missense c.1230 p.M410I 0.98 NULL "HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand" - no_errors TBC1D8 11138 genome.wustl.edu 36 2 101023143 101023143 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 101023143 101023143 C T SNP TBC1D8 NM_001102426 human genbank 54_36p -1 validated missense c.964 p.A322T 0.98 "HMMPfam_GRAM,HMMSmart_SM00568" "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_EF-hand" - no_errors TBC1D8 11138 genome.wustl.edu 36 2 101073171 101073171 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 101073171 101073171 T C SNP TBC1D8 NM_001102426 human genbank 54_36p -1 validated missense c.215 p.Q72R 1 NULL "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_EF-hand" - no_errors RNF149 284996 genome.wustl.edu 36 2 101278050 101278050 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 101278050 101278050 C T SNP RNF149 NM_173647 human genbank 54_36p -1 provisional missense c.486 p.M162I 1 "superfamily_SSF52025,HMMPfam_PA" "PatternScan_ZF_RING_1,superfamily_SSF52025,HMMPfam_PA,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors IL18RAP 8807 genome.wustl.edu 36 2 102424267 102424267 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 102424267 102424267 T A SNP IL18RAP NM_003853 human genbank 54_36p 1 reviewed missense c.794 p.L265H 1 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors MFSD9 84804 genome.wustl.edu 36 2 102701787 102701787 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 102701787 102701787 G A SNP MFSD9 NM_032718 human genbank 54_36p -1 validated missense c.949 p.R317W 0.99 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors MFSD9 84804 genome.wustl.edu 36 2 102701900 102701900 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 102701900 102701900 T A SNP MFSD9 NM_032718 human genbank 54_36p -1 validated missense c.836 p.N279I 0.03 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors ODC1 89874 genome.wustl.edu 36 2 10502581 10502581 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 10502581 10502581 T C SNP ODC1 NM_002539 human genbank 54_36p -1 reviewed missense c.29 p.D10G 1 NULL "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC" - no_errors GPR45 11250 genome.wustl.edu 36 2 105225600 105225600 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 105225600 105225600 G A SNP GPR45 NM_007227 human genbank 54_36p 1 reviewed missense c.853 p.V285I 0.73 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors FHL2 2274 genome.wustl.edu 36 2 105356556 105356556 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 105356556 105356556 G A SNP FHL2 NM_001039492 human genbank 54_36p -1 reviewed silent c.223 p.L75 0.94 "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors RGPD3 653489 genome.wustl.edu 36 2 106419448 106419448 + Silent SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 106419448 106419448 G A SNP RGPD3 ENST00000304514 human ensembl 54_36p -1 known silent c.1488 p.S496 1 NULL "superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_Grip" - no_errors ST6GAL2 84620 genome.wustl.edu 36 2 106815517 106815517 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 106815517 106815517 G A SNP ST6GAL2 NM_032528 human genbank 54_36p -1 validated missense c.1079 p.S360L 1 "HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase" "HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase" - no_errors ST6GAL2 84620 genome.wustl.edu 36 2 106826674 106826674 + Silent SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 106826674 106826674 G A SNP ST6GAL2 NM_032528 human genbank 54_36p -1 validated silent c.192 p.A64 0.04 NULL "HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase" - no_errors SLC5A7 60482 genome.wustl.edu 36 2 107989086 107989086 + Silent SNP A A C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 107989086 107989086 A C SNP SLC5A7 NM_021815 human genbank 54_36p 1 provisional silent c.891 p.S297 1 HMMPfam_SSF "PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF" - no_errors SULT1C2 6819 genome.wustl.edu 36 2 108287559 108287559 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 108287559 108287559 A G SNP SULT1C2 NM_176825 human genbank 54_36p 1 reviewed missense c.506 p.E169G 0.98 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors CCDC138 165055 genome.wustl.edu 36 2 108798892 108798892 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 108798892 108798892 C G SNP CCDC138 NM_144978 human genbank 54_36p 1 provisional missense c.1105 p.H369D 1 NULL NULL - no_errors SH3RF3 344558 genome.wustl.edu 36 2 109330603 109330603 + Silent SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 109330603 109330603 C T SNP SH3RF3 NM_001099289 human genbank 54_36p 1 provisional silent c.615 p.Y205 0.54 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_stop_codon NPHP1 4867 genome.wustl.edu 36 2 110284692 110284692 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 110284692 110284692 C G SNP NPHP1 NM_000272 human genbank 54_36p -1 reviewed missense c.502 p.V168L 0.73 "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors LOC442041 442041 genome.wustl.edu 36 2 110554118 110554118 + RNA SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 110554118 110554118 C A SNP LOC442041 XR_016876 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ZC3H6 376940 genome.wustl.edu 36 2 112784057 112784057 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 112784057 112784057 A G SNP ZC3H6 NM_198581 human genbank 54_36p 1 validated missense c.461 p.D154G 1 NULL "superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_Multiheme cytochromes" - no_errors ZC3H6 376940 genome.wustl.edu 36 2 112790617 112790617 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 112790617 112790617 G A SNP ZC3H6 NM_198581 human genbank 54_36p 1 validated missense c.847 p.E283K 1 "HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger" "HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_Multiheme cytochromes,superfamily_CCCH zinc finger" - no_errors ZC3H6 376940 genome.wustl.edu 36 2 112805053 112805053 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 112805053 112805053 A G SNP ZC3H6 NM_198581 human genbank 54_36p 1 validated missense c.2087 p.D696G 1 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_Multiheme cytochromes,superfamily_CCCH zinc finger" - no_errors SLC20A1 6574 genome.wustl.edu 36 2 113133017 113133017 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 113133017 113133017 T A SNP SLC20A1 NM_005415 human genbank 54_36p 1 provisional missense c.923 p.L308H 0.27 HMMPfam_PHO4 HMMPfam_PHO4 - no_errors IL1F7 27178 genome.wustl.edu 36 2 113391711 113391711 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 113391711 113391711 G A SNP IL1F7 NM_014439 human genbank 54_36p 1 reviewed silent c.294 p.L98 0 "HMMSmart_SM00125,superfamily_Cytokine" "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" - no_errors IL1F6 27179 genome.wustl.edu 36 2 113481917 113481917 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 113481917 113481917 C T SNP IL1F6 NM_014440 human genbank 54_36p 1 provisional missense c.302 p.P101L 0 "superfamily_Cytok_IL1_like,HMMSmart_IL1,HMMPfam_IL1" "PatternScan_INTERLEUKIN_1,superfamily_Cytok_IL1_like,HMMSmart_IL1,HMMPfam_IL1" - no_errors PSD4 23550 genome.wustl.edu 36 2 113660286 113660286 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 113660286 113660286 C G SNP PSD4 NM_012455 human genbank 54_36p 1 validated missense c.1611 p.H537Q 0 HMMPfam_Sec7 "HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors DPP10 57628 genome.wustl.edu 36 2 116163927 116163927 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 116163927 116163927 T A SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed missense c.536 p.V179D 0.97 "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N" "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9" - no_errors DPP10 57628 genome.wustl.edu 36 2 116227344 116227344 + Splice_Site SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 116227344 116227344 G A SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed splice_site c.1074+1 e11+1 1 - - - no_errors DPP10 57628 genome.wustl.edu 36 2 116236628 116236628 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 116236628 116236628 T C SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed missense c.1085 p.M362T 1 "HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" "HMMPfam_Peptidase_S9,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" - no_errors DPP10 57628 genome.wustl.edu 36 2 116251275 116251275 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 116251275 116251275 G A SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed missense c.1243 p.V415M 0.98 "HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" "HMMPfam_Peptidase_S9,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" - no_errors DDX18 8886 genome.wustl.edu 36 2 118303345 118303345 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 118303345 118303345 T C SNP DDX18 NM_006773 human genbank 54_36p 1 reviewed missense c.1703 p.L568S 1 superfamily_SSF52540 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors MARCO 8685 genome.wustl.edu 36 2 119445573 119445573 + Silent SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 119445573 119445573 C G SNP MARCO NM_006770 human genbank 54_36p 1 reviewed silent c.453 p.G151 0 NULL "HMMPfam_Collagen,superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors PTPN4 5775 genome.wustl.edu 36 2 120284016 120284016 + Silent SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 120284016 120284016 T A SNP PTPN4 NM_002830 human genbank 54_36p 1 reviewed silent c.117 p.T39 1 "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 124716338 124716338 + Silent SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 124716338 124716338 G A SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed silent c.279 p.T93 0.89 "HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 124948826 124948826 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 124948826 124948826 C T SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed missense c.959 p.T320I 1 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 125376997 125376997 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 125376997 125376997 G A SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed missense c.3502 p.V1168I 1 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 125388203 125388203 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 125388203 125388203 C A SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed nonsense c.3789 p.Y1263* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors BIN1 274 genome.wustl.edu 36 2 127544044 127544044 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 127544044 127544044 G T SNP BIN1 NM_139343 human genbank 54_36p -1 reviewed silent c.408 p.I136 1 "HMMSmart_SM00721,HMMPfam_BAR" "HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors MAP3K2 10746 genome.wustl.edu 36 2 127788865 127788865 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 127788865 127788865 G C SNP MAP3K2 NM_006609 human genbank 54_36p -1 reviewed missense c.1391 p.T464S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "HMMPfam_PB1,HMMSmart_SM00666,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors UGGT1 56886 genome.wustl.edu 36 2 128603092 128603092 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 128603092 128603092 A G SNP UGCGL1 NM_020120 human genbank 54_36p 1 validated missense c.1246 p.N416D 1 NULL "HMMPfam_UDP-g_GGTase,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors POTEF 728378 genome.wustl.edu 36 2 130549240 130549240 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 130549240 130549240 G A SNP POTEF NM_001099771 human genbank 54_36p -1 validated nonsense c.2275 p.Q759* 1 "superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN" "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors POTEF 728378 genome.wustl.edu 36 2 130549478 130549478 + Silent SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 130549478 130549478 A G SNP POTEF NM_001099771 human genbank 54_36p -1 validated silent c.2037 p.D679 0 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_Actin,HMMSmart_ACTIN,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2,superfamily_SSF53067" - no_errors PTPN18 26469 genome.wustl.edu 36 2 130845308 130845308 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 130845308 130845308 C T SNP PTPN18 NM_014369 human genbank 54_36p 1 reviewed missense c.991 p.R331C 0 NULL "HMMSmart_PTPc,superfamily_SSF52799,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1" - no_errors LOC653269 653269 genome.wustl.edu 36 2 130937528 130937528 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 130937528 130937528 C T SNP LOC653269 XM_928585 human genbank 54_36p -1 model missense c.2559 p.M853I 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors PLEKHB2 55041 genome.wustl.edu 36 2 131620728 131620728 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 131620728 131620728 A T SNP PLEKHB2 NM_001100623 human genbank 54_36p 1 validated missense c.581 p.Y194F 0.97 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors POTEE 445582 genome.wustl.edu 36 2 131737909 131737909 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 131737909 131737909 T C SNP POTEE NM_001083538 human genbank 54_36p 1 validated missense c.2411 p.L804P 1 "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors LOC401002 401002 genome.wustl.edu 36 2 131826616 131826616 + RNA SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 131826616 131826616 T A SNP LOC401002 XR_039216 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene POTEKP 440915 genome.wustl.edu 36 2 132098014 132098014 + Splice_Site SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 132098014 132098014 A G SNP ACTBL3 ENST00000397487 human ensembl 54_36p 1 known splice_site c.1494-2 e11-2 0 - - - no_stop_codon LOC389049 389049 genome.wustl.edu 36 2 132197514 132197514 + RNA SNP A A C novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 132197514 132197514 A C SNP LOC389049 XR_017334 human genbank 54_36p -1 model rna NULL NULL 0.98 - - - pseudogene ZNF806 646915 genome.wustl.edu 36 2 132792670 132792670 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 132792670 132792670 T C SNP ZNF806 XM_001724242 human genbank 54_36p 1 model missense c.1661 p.L554P 0.02 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors NCKAP5 344148 genome.wustl.edu 36 2 133257909 133257909 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 133257909 133257909 A T SNP NAP5 NM_207363 human genbank 54_36p -1 validated missense c.2945 p.I982N 0.02 NULL NULL - no_errors NCKAP5 344148 genome.wustl.edu 36 2 133258058 133258058 + Silent SNP A A T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 133258058 133258058 A T SNP NAP5 NM_207363 human genbank 54_36p -1 validated silent c.2796 p.P932 1 NULL NULL - no_errors YSK4 80122 genome.wustl.edu 36 2 135465585 135465585 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 135465585 135465585 T C SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.610 p.S204G 0.96 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors YSK4 80122 genome.wustl.edu 36 2 135472902 135472902 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 135472902 135472902 C G SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.450 p.R150S 0.04 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors YSK4 80122 genome.wustl.edu 36 2 135495840 135495840 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 135495840 135495840 C T SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.53 p.C18Y 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors RAB3GAP1 22930 genome.wustl.edu 36 2 135642764 135642764 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 135642764 135642764 C T SNP RAB3GAP1 NM_012233 human genbank 54_36p 1 validated silent c.2889 p.L963 1 NULL NULL - no_errors LCT 3938 genome.wustl.edu 36 2 136283476 136283476 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 136283476 136283476 C A SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.2911 p.V971L 1 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat" "superfamily_Glyco_hydro_cat,HMMPfam_Glyco_hydro_1,PatternScan_GLYCOSYL_HYDROL_F1_2,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors LCT 3938 genome.wustl.edu 36 2 136286558 136286558 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 136286558 136286558 C G SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.2146 p.V716L 0.04 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors LCT 3938 genome.wustl.edu 36 2 136311151 136311151 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 136311151 136311151 G T SNP LCT NM_002299 human genbank 54_36p -1 reviewed nonsense c.59 p.S20* 0.01 superfamily_Glyco_hydro_cat "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors DARS 1615 genome.wustl.edu 36 2 136457479 136457479 + Silent SNP T T G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 136457479 136457479 T G SNP DARS NM_001349 human genbank 54_36p -1 validated silent c.82 p.R28 1 superfamily_Nucleic acid-binding proteins "superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases" - no_errors LOC648390 648390 genome.wustl.edu 36 2 136803840 136803840 + RNA SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 136803840 136803840 C T SNP LOC648390 XR_037845 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene THSD7B 80731 genome.wustl.edu 36 2 137706999 137706999 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 137706999 137706999 C A SNP THSD7B NM_001080427 human genbank 54_36p 1 provisional missense c.1883 p.S628Y 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors NXPH2 11249 genome.wustl.edu 36 2 139145339 139145339 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 139145339 139145339 C A SNP NXPH2 NM_007226 human genbank 54_36p -1 validated nonsense c.418 p.G140* 1 HMMPfam_Neurexophilin HMMPfam_Neurexophilin - no_errors NXPH2 11249 genome.wustl.edu 36 2 139145435 139145435 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 139145435 139145435 A T SNP NXPH2 NM_007226 human genbank 54_36p -1 validated missense c.322 p.F108I 1 HMMPfam_Neurexophilin HMMPfam_Neurexophilin - no_errors NXPH2 11249 genome.wustl.edu 36 2 139145697 139145697 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 139145697 139145697 A T SNP NXPH2 NM_007226 human genbank 54_36p -1 validated nonsense c.60 p.C20* 1 HMMPfam_Neurexophilin HMMPfam_Neurexophilin - no_errors LRP1B 53353 genome.wustl.edu 36 2 140797959 140797960 + Missense_Mutation DNP TC TC CT novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TC TC TC CT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 140797959 140797960 TC CT DNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.12487_12486 p.I4163V 1.000:1.000 superfamily_SSF63825 ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 genome.wustl.edu 36 2 140930574 140930574 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 140930574 140930574 T A SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.9883 p.T3295S 0.03 "HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 genome.wustl.edu 36 2 140975767 140975767 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 140975767 140975767 C T SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.8809 p.G2937R 1 "HMMSmart_EGF_CA,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 genome.wustl.edu 36 2 141174615 141174615 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 141174615 141174615 C T SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.6473 p.C2158Y 1 "HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 genome.wustl.edu 36 2 141175790 141175790 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 141175790 141175790 C G SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.6397 p.V2133L 0.99 superfamily_SSF63825 ############################################################################################################################################################################################################################################################### - no_errors GTDC1 79712 genome.wustl.edu 36 2 144481356 144481356 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 144481356 144481356 C G SNP GTDC1 NM_001006636 human genbank 54_36p -1 provisional missense c.738 p.L246F 0.03 NULL "HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" - no_errors TPO 7173 genome.wustl.edu 36 2 1470757 1470757 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 1470757 1470757 C A SNP TPO NM_000547 human genbank 54_36p 1 reviewed missense c.1755 p.D585E 1 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" ############################################################################################################################################################################################################################################################### - no_errors ORC4 5000 genome.wustl.edu 36 2 148446807 148446807 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 148446807 148446807 T A SNP ORC4L NM_002552 human genbank 54_36p -1 reviewed missense c.196 p.I66F 1 "superfamily_SSF52540,HMMSmart_AAA" "superfamily_SSF52540,HMMSmart_AAA" - no_errors TPO 7173 genome.wustl.edu 36 2 1486840 1486840 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 1486840 1486840 G A SNP TPO NM_000547 human genbank 54_36p 1 reviewed missense c.2500 p.D834N 0.99 "HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors MBD5 55777 genome.wustl.edu 36 2 148964276 148964276 + Silent SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 148964276 148964276 A C SNP MBD5 NM_018328 human genbank 54_36p 1 validated silent c.3906 p.G1302 1 NULL "HMMSmart_SM00391,HMMPfam_MBD,superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP" - no_errors EPC2 26122 genome.wustl.edu 36 2 149255757 149255757 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 149255757 149255757 G T SNP EPC2 NM_015630 human genbank 54_36p 1 validated missense c.1663 p.A555S 1 HMMPfam_E_Pc_C "HMMPfam_EPL1,HMMPfam_E_Pc_C" - no_errors RIF1 55183 genome.wustl.edu 36 2 152028237 152028237 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 152028237 152028237 A C SNP RIF1 NM_018151 human genbank 54_36p 1 validated missense c.3957 p.E1319D 0.48 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1" - no_errors RIF1 55183 genome.wustl.edu 36 2 152028439 152028439 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 152028439 152028439 A G SNP RIF1 NM_018151 human genbank 54_36p 1 validated missense c.4159 p.N1387D 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1" - no_errors NEB 4703 genome.wustl.edu 36 2 152055155 152055155 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 152055155 152055155 C T SNP NEB NM_004543 human genbank 54_36p -1 reviewed missense c.19706 p.G6569E 0.99 NULL "HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors NEB 4703 genome.wustl.edu 36 2 152117480 152117480 + Silent SNP A A G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 152117480 152117480 A G SNP NEB NM_004543 human genbank 54_36p -1 reviewed silent c.14685 p.D4895 0.99 "HMMPfam_Nebulin,HMMSmart_SM00227" "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" - no_errors NEB 4703 genome.wustl.edu 36 2 152220659 152220659 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 152220659 152220659 T G SNP NEB NM_004543 human genbank 54_36p -1 reviewed missense c.6620 p.H2207P 1 HMMSmart_SM00227 "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" - no_errors FMNL2 114793 genome.wustl.edu 36 2 153125679 153125679 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 153125679 153125679 C T SNP FMNL2 NM_052905 human genbank 54_36p 1 reviewed silent c.480 p.S160 0.47 HMMPfam_Drf_GBD "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors PRPF40A 55660 genome.wustl.edu 36 2 153280796 153280796 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 153280796 153280796 G C SNP PRPF40A NM_017892 human genbank 54_36p -1 validated missense c.175 p.P59A 1 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF" - no_errors LOC642635 642635 genome.wustl.edu 36 2 153985282 153985282 + RNA SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 153985282 153985282 G C SNP LOC642635 XR_016188 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC642635 642635 genome.wustl.edu 36 2 153985286 153985286 + RNA SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 153985286 153985286 G A SNP LOC642635 XR_016188 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC642635 642635 genome.wustl.edu 36 2 153985776 153985776 + RNA SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 153985776 153985776 G A SNP LOC642635 XR_016188 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene NBAS 51594 genome.wustl.edu 36 2 15481953 15481953 + Silent SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 15481953 15481953 C G SNP NBAS NM_015909 human genbank 54_36p -1 validated silent c.2514 p.T838 0.05 HMMPfam_Sec39 "superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14" - no_errors NR4A2 4929 genome.wustl.edu 36 2 156891607 156891607 + Silent SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 156891607 156891607 C A SNP NR4A2 NM_006186 human genbank 54_36p -1 reviewed silent c.1230 p.L410 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors NR4A2 4929 genome.wustl.edu 36 2 156894112 156894112 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 156894112 156894112 C T SNP NR4A2 NM_006186 human genbank 54_36p -1 reviewed missense c.833 p.R278H 1 "HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors NR4A2 4929 genome.wustl.edu 36 2 156894513 156894513 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 156894513 156894513 G A SNP NR4A2 NM_006186 human genbank 54_36p -1 reviewed silent c.432 p.D144 1 NULL "HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors GPD2 2820 genome.wustl.edu 36 2 157147615 157147615 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 157147615 157147615 C T SNP GPD2 NM_000408 human genbank 54_36p 1 validated missense c.2123 p.A708V 0.98 superfamily_FAD/NAD(P)-binding domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,PatternScan_FAD_G3PDH_1,superfamily_FAD-linked reductases C-terminal domain,PatternScan_FAD_G3PDH_2,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors ACVR1 90 genome.wustl.edu 36 2 158302334 158302334 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 158302334 158302334 C G SNP ACVR1 NM_001105 human genbank 54_36p -1 reviewed missense c.1485 p.L495F 1 "superfamily_Kinase_like,HMMPfam_Pkinase" "HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CCDC148 130940 genome.wustl.edu 36 2 158743702 158743702 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 158743702 158743702 C A SNP CCDC148 NM_138803 human genbank 54_36p -1 provisional missense c.1423 p.V475L 0.93 NULL NULL - no_errors CCDC148 130940 genome.wustl.edu 36 2 158878516 158878516 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 158878516 158878516 A T SNP CCDC148 NM_138803 human genbank 54_36p -1 provisional missense c.901 p.L301M 1 NULL NULL - no_errors PKP4 8502 genome.wustl.edu 36 2 159186089 159186089 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 159186089 159186089 G C SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed missense c.513 p.K171N 1 NULL "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors PKP4 8502 genome.wustl.edu 36 2 159190040 159190040 + Silent SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 159190040 159190040 G A SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed silent c.1008 p.S336 0.98 NULL "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors PKP4 8502 genome.wustl.edu 36 2 159227670 159227670 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 159227670 159227670 G A SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed missense c.2227 p.V743M 1 "HMMSmart_SM00185,superfamily_ARM repeat" "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors BAZ2B 29994 genome.wustl.edu 36 2 159948437 159948437 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 159948437 159948437 A T SNP BAZ2B NM_013450 human genbank 54_36p -1 validated missense c.3687 p.S1229R 1 NULL "superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors MYCN 4613 genome.wustl.edu 36 2 16003348 16003348 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 16003348 16003348 C T SNP MYCN NM_005378 human genbank 54_36p 1 reviewed missense c.1073 p.P358L 0.99 HMMPfam_Myc_N "HMMPfam_Myc_N,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors LOC643194 643194 genome.wustl.edu 36 2 161846005 161846005 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 161846005 161846005 G C SNP LOC643194 XM_931396 human genbank 54_36p -1 model missense c.200 p.S67C 0 NULL NULL - no_errors LOC643194 643194 genome.wustl.edu 36 2 161846027 161846027 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 161846027 161846027 C A SNP LOC643194 XM_931396 human genbank 54_36p -1 model missense c.178 p.A60S 0 NULL NULL - no_errors LOC728220 728220 genome.wustl.edu 36 2 161846670 161846671 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 - - - G - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 161846670 161846671 - G INS LOC728220 XM_001126897 human genbank 54_36p 1 model frame_shift_ins c.39_40 p.L13fs 0.974:0.963 NULL NULL - no_errors TBR1 10716 genome.wustl.edu 36 2 161981629 161981629 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 161981629 161981629 C T SNP TBR1 NM_006593 human genbank 54_36p 1 reviewed silent c.462 p.N154 1 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors FAP 2191 genome.wustl.edu 36 2 162767902 162767902 + Splice_Site SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 162767902 162767902 C G SNP FAP NM_004460 human genbank 54_36p -1 reviewed splice_site c.1048-1 e13-1 1 - - - no_errors FAP 2191 genome.wustl.edu 36 2 162782770 162782770 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 162782770 162782770 G A SNP FAP NM_004460 human genbank 54_36p -1 reviewed missense c.734 p.P245L 1 "superfamily_SSF82171,HMMPfam_DPPIV_N" "superfamily_SSF82171,HMMPfam_DPPIV_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors GRB14 2888 genome.wustl.edu 36 2 165057926 165057926 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165057926 165057926 C A SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed missense c.1489 p.G497C 1 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "HMMPfam_RA,HMMSmart_RA,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_BPS,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" - no_errors GRB14 2888 genome.wustl.edu 36 2 165067068 165067068 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165067068 165067068 A T SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed missense c.1047 p.N349K 1 NULL "HMMPfam_RA,HMMSmart_RA,HMMPfam_SH2,HMMSmart_SH2,HMMPfam_PH,HMMSmart_PH,HMMPfam_BPS,superfamily_SSF50729,superfamily_SSF55550" - no_errors GRB14 2888 genome.wustl.edu 36 2 165112482 165112482 + Silent SNP G A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2 165112482 165112482 G A SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed silent c.415 p.L139 1 "HMMPfam_RA,HMMSmart_RA" "HMMPfam_RA,HMMSmart_RA,HMMPfam_SH2,HMMSmart_SH2,HMMPfam_PH,HMMSmart_PH,HMMPfam_BPS,superfamily_SSF50729,superfamily_SSF55550" - no_errors COBLL1 22837 genome.wustl.edu 36 2 165267892 165267892 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165267892 165267892 C A SNP COBLL1 NM_014900 human genbank 54_36p -1 validated missense c.1310 p.G437V 0.98 NULL HMMPfam_Cobl - no_errors SLC38A11 151258 genome.wustl.edu 36 2 165504213 165504213 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165504213 165504213 A T SNP SLC38A11 NM_173512 human genbank 54_36p -1 provisional missense c.296 p.L99H 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors SCN3A 6328 genome.wustl.edu 36 2 165702870 165702870 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165702870 165702870 A T SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.2156 p.L719H 1 NULL "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ" - no_errors SCN2A 6326 genome.wustl.edu 36 2 165878420 165878420 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165878420 165878420 C T SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed missense c.1079 p.P360L 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN2A 6326 genome.wustl.edu 36 2 165878837 165878837 + Silent SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 165878837 165878837 G A SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed silent c.1356 p.Q452 1 NULL "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors TTC21B 79809 genome.wustl.edu 36 2 166478345 166478345 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166478345 166478345 G T SNP TTC21B NM_024753 human genbank 54_36p -1 validated nonsense c.2196 p.Y732* 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors SCN1A 6323 genome.wustl.edu 36 2 166557083 166557083 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166557083 166557083 T A SNP SCN1A NM_006920 human genbank 54_36p -1 validated missense c.4915 p.I1639F 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P" - no_errors SCN1A 6323 genome.wustl.edu 36 2 166560768 166560768 + Splice_Site SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166560768 166560768 C T SNP SCN1A NM_006920 human genbank 54_36p -1 validated splice_site c.4548+1 e24+1 1 - - - no_errors SCN1A 6323 genome.wustl.edu 36 2 166560775 166560775 + Silent SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166560775 166560775 T A SNP SCN1A NM_006920 human genbank 54_36p -1 validated silent c.4542 p.R1514 1 superfamily_SSF81324 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324" - no_errors SCN1A 6323 genome.wustl.edu 36 2 166608698 166608698 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166608698 166608698 G A SNP SCN1A NM_006920 human genbank 54_36p -1 validated silent c.1770 p.F590 1 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324" - no_errors SCN9A 6335 genome.wustl.edu 36 2 166816635 166816635 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166816635 166816635 T A SNP SCN9A NM_002977 human genbank 54_36p -1 validated missense c.3325 p.N1109Y 0.01 HMMPfam_Na_trans_assoc "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN9A 6335 genome.wustl.edu 36 2 166837176 166837176 + Silent SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166837176 166837176 C T SNP SCN9A NM_002977 human genbank 54_36p -1 validated silent c.3297 p.S1099 0.98 HMMPfam_Na_trans_assoc "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN9A 6335 genome.wustl.edu 36 2 166851301 166851301 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 166851301 166851301 T A SNP SCN9A NM_002977 human genbank 54_36p -1 validated missense c.1393 p.T465S 0.92 NULL "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors XIRP2 129446 genome.wustl.edu 36 2 167808566 167808582 + Frame_Shift_Del DEL TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT - novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT - TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 167808566 167808582 TAAGGCAAAGTGGTTAT - DEL XIRP2 NM_152381 human genbank 54_36p 1 validated frame_shift_del c.2418_2434 p.K807fs 0.352:0.340:0.265:0.279:0.696:0.902:0.929:0.997:0.996:0.996:1.000:1.000:1.000:1.000:1.000:0.987:1.000 HMMPfam_Xin HMMPfam_Xin "(deletion:cds_exon[167807325,167816703])" no_errors XIRP2 129446 genome.wustl.edu 36 2 167813024 167813024 + Silent SNP A A G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 167813024 167813024 A G SNP XIRP2 NM_152381 human genbank 54_36p 1 validated silent c.6876 p.P2292 1 NULL HMMPfam_Xin - no_errors XIRP2 129446 genome.wustl.edu 36 2 167815927 167815927 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 167815927 167815927 A G SNP XIRP2 NM_152381 human genbank 54_36p 1 validated missense c.9779 p.E3260G 1 NULL HMMPfam_Xin - no_errors B3GALT1 8708 genome.wustl.edu 36 2 168433921 168433921 + Silent SNP A A G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 168433921 168433921 A G SNP B3GALT1 NM_020981 human genbank 54_36p 1 reviewed silent c.126 p.T42 0.8 NULL HMMPfam_Galactosyl_T - no_errors ABCB11 8647 genome.wustl.edu 36 2 169500012 169500012 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 169500012 169500012 G A SNP ABCB11 NM_003742 human genbank 54_36p -1 reviewed missense c.2984 p.A995V 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB11 8647 genome.wustl.edu 36 2 169509662 169509662 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2 169509662 169509662 A G SNP ABCB11 NM_003742 human genbank 54_36p -1 reviewed missense c.2399 p.L800P 0.99 "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LRP2 4036 genome.wustl.edu 36 2 169697435 169697435 + Silent SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 169697435 169697435 C G SNP LRP2 NM_004525 human genbank 54_36p -1 validated silent c.13623 p.V4541 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 genome.wustl.edu 36 2 169730764 169730764 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 169730764 169730764 A C SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.11682 p.N3894K 1 "HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 genome.wustl.edu 36 2 169741183 169741183 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 169741183 169741183 A C SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.10555 p.C3519G 1 "HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 genome.wustl.edu 36 2 169742768 169742768 + Missense_Mutation SNP T C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T C T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2 169742768 169742768 T C SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.10184 p.E3395G 1 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 genome.wustl.edu 36 2 169752926 169752926 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 169752926 169752926 C T SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.9128 p.R3043H 0.61 "HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 genome.wustl.edu 36 2 169837754 169837754 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 169837754 169837754 T A SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.2045 p.N682I 1 "HMMSmart_EGF,superfamily_Grow_fac_recept,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors FASTKD1 79675 genome.wustl.edu 36 2 170102046 170102046 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 170102046 170102046 C T SNP FASTKD1 NM_024622 human genbank 54_36p -1 validated missense c.2125 p.E709K 1 HMMPfam_FAST_2 "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors PPIG 9360 genome.wustl.edu 36 2 170201593 170201593 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 170201593 170201593 A G SNP PPIG NM_004792 human genbank 54_36p 1 validated missense c.1579 p.S527G 0.93 NULL "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors METTL8 79828 genome.wustl.edu 36 2 171904158 171904160 + In_Frame_Del DEL ATG ATG - novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 ATG ATG ATG - ATG ATG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 171904158 171904160 ATG - DEL METTL8 NM_024770 human genbank 54_36p -1 validated in_frame_del c.238_236 p.S79in_frame_del 0.001:0.001:0.016 superfamily_SSF53335 "superfamily_SSF53335,HMMPfam_Methyltransf_12" "(deletion:cds_exon[171903940,171904310])" no_errors DYNC1I2 1781 genome.wustl.edu 36 2 172277531 172277531 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 172277531 172277531 A T SNP DYNC1I2 NM_001378 human genbank 54_36p 1 provisional missense c.344 p.H115L 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors HAT1 8520 genome.wustl.edu 36 2 172552464 172552464 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 172552464 172552464 C T SNP HAT1 NM_003642 human genbank 54_36p 1 reviewed missense c.1034 p.A345V 1 NULL "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Hat1_N" - no_errors ITGA6 3655 genome.wustl.edu 36 2 173052679 173052679 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 173052679 173052679 C A SNP ITGA6 NM_001079818 human genbank 54_36p 1 reviewed missense c.1453 p.Q485K 1 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA" - no_errors CDCA7 83879 genome.wustl.edu 36 2 173938520 173938520 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 173938520 173938520 A G SNP CDCA7 NM_031942 human genbank 54_36p 1 reviewed missense c.989 p.E330G 0.99 NULL HMMPfam_zf-4CXXC_R1 - no_errors LOC643997 643997 genome.wustl.edu 36 2 174058986 174058986 + Silent SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 174058986 174058986 G C SNP LOC643997 XM_292963 human genbank 54_36p -1 model silent c.351 p.A117 1 "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase" "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase" - no_errors LOC388925 388925 genome.wustl.edu 36 2 17430380 17430380 + RNA SNP G G T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 17430380 17430380 G T SNP LOC388925 XR_016133 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene CHRNA1 1134 genome.wustl.edu 36 2 175326448 175326448 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 175326448 175326448 G T SNP CHRNA1 ENST00000409323 human ensembl 54_36p -1 known nonsense c.807 p.C269* 0 NULL "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHN1 1123 genome.wustl.edu 36 2 175488084 175488084 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 175488084 175488084 A T SNP CHN1 NM_001025201 human genbank 54_36p -1 reviewed missense c.208 p.Y70N 1 "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors EVX2 344191 genome.wustl.edu 36 2 176655383 176655383 + Silent SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 176655383 176655383 C A SNP EVX2 NM_001080458 human genbank 54_36p -1 provisional silent c.468 p.S156 0.05 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXD10 3236 genome.wustl.edu 36 2 176691930 176691930 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 176691930 176691930 G A SNP HOXD10 NM_002148 human genbank 54_36p 1 reviewed missense c.748 p.E250K 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HNRNPA3 220988 genome.wustl.edu 36 2 177790742 177790742 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 177790742 177790742 G T SNP HNRNPA3 NM_194247 human genbank 54_36p 1 validated missense c.884 p.G295V 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors PDE11A 50940 genome.wustl.edu 36 2 178202430 178202430 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 178202430 178202430 G T SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed missense c.2753 p.A918D 0.21 NULL "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors LOC728664 728664 genome.wustl.edu 36 2 178570957 178570957 + RNA SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 178570957 178570957 C A SNP LOC728664 XR_015711 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PDE11A 50940 genome.wustl.edu 36 2 178587324 178587324 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 178587324 178587324 G A SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed missense c.1022 p.A341V 1 "HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like" "HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMPfam_GAF,HMMSmart_SM00065,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like,superfamily_GAF domain-like" - no_errors MSGN1 343930 genome.wustl.edu 36 2 17861525 17861525 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 17861525 17861525 G A SNP MSGN1 NM_001105569 human genbank 54_36p 1 inferred missense c.259 p.A87T 0 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors PDE11A 50940 genome.wustl.edu 36 2 178644726 178644726 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 178644726 178644726 C T SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed missense c.685 p.V229I 1 "HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like" "HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMPfam_GAF,HMMSmart_SM00065,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like,superfamily_GAF domain-like" - no_errors PLEKHA3 65977 genome.wustl.edu 36 2 179058628 179058628 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179058628 179058628 T A SNP PLEKHA3 NM_019091 human genbank 54_36p 1 validated missense c.55 p.W19R 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors CCDC141 285025 genome.wustl.edu 36 2 179426577 179426577 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179426577 179426577 T A SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.1355 p.D452V 1 NULL HMMPfam_I-set - no_errors CCDC141 285025 genome.wustl.edu 36 2 179428502 179428502 + Silent SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179428502 179428502 C T SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional silent c.1152 p.R384 1 NULL HMMPfam_I-set - no_errors KCNS3 3790 genome.wustl.edu 36 2 17977146 17977146 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 17977146 17977146 G A SNP KCNS3 NM_002252 human genbank 54_36p 1 reviewed missense c.1390 p.D464N 0.32 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors UBE2E3 10477 genome.wustl.edu 36 2 181555080 181555080 + Silent SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 181555080 181555080 G T SNP UBE2E3 NM_006357 human genbank 54_36p 1 reviewed silent c.66 p.A22 0.66 NULL "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con,PatternScan_UBIQUITIN_CONJUGAT_1" - no_errors ITGA4 3676 genome.wustl.edu 36 2 182068837 182068837 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 182068837 182068837 G T SNP ITGA4 NM_000885 human genbank 54_36p 1 reviewed nonsense c.1468 p.G490* 1 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors CERKL 375298 genome.wustl.edu 36 2 182229916 182229916 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 182229916 182229916 C T SNP CERKL NM_201548 human genbank 54_36p -1 validated silent c.63 p.A21 0.23 NULL HMMPfam_DAGK_cat - no_errors NEUROD1 4760 genome.wustl.edu 36 2 182251718 182251718 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 182251718 182251718 T A SNP NEUROD1 NM_002500 human genbank 54_36p -1 reviewed nonsense c.115 p.K39* 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors FRZB 2487 genome.wustl.edu 36 2 183411403 183411403 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 183411403 183411403 T C SNP FRZB NM_001463 human genbank 54_36p -1 validated missense c.776 p.Y259C 1 "superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" - no_errors FRZB 2487 genome.wustl.edu 36 2 183439182 183439182 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 183439182 183439182 G T SNP FRZB NM_001463 human genbank 54_36p -1 validated missense c.344 p.A115D 1 "superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063" "superfamily_Frizzled cysteine-rich domain,superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Fz,HMMSmart_SM00063" - no_errors DUSP19 142679 genome.wustl.edu 36 2 183656523 183656523 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 183656523 183656523 A G SNP DUSP19 NM_080876 human genbank 54_36p 1 validated missense c.269 p.N90S 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc" - no_errors DUSP19 142679 genome.wustl.edu 36 2 183668509 183668509 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 183668509 183668509 T C SNP DUSP19 NM_080876 human genbank 54_36p 1 validated missense c.532 p.S178P 1 "HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors ZNF804A 91752 genome.wustl.edu 36 2 185508899 185508899 + Silent SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 185508899 185508899 T A SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional silent c.531 p.T177 0 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NT5C1B 93034 genome.wustl.edu 36 2 18631851 18631851 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 18631851 18631851 G A SNP NT5C1B NM_001002006 human genbank 54_36p -1 validated missense c.190 p.R64C 1 NULL HMMPfam_5-nucleotidase - no_errors ST13P2 344328 genome.wustl.edu 36 2 188398902 188398902 + RNA SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 188398902 188398902 C G SNP LOC344328 XR_017370 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ST13P2 344328 genome.wustl.edu 36 2 188399039 188399039 + RNA SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 188399039 188399039 A G SNP LOC344328 XR_017370 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC729141 729141 genome.wustl.edu 36 2 188800989 188800989 + RNA SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 188800989 188800989 C A SNP LOC729141 XR_015463 human genbank 54_36p 1 model rna NULL NULL 0.98 - - - pseudogene LOC729141 729141 genome.wustl.edu 36 2 188801234 188801234 + RNA SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 188801234 188801234 C T SNP LOC729141 XR_015463 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene GULP1 51454 genome.wustl.edu 36 2 189157286 189157286 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 189157286 189157286 T C SNP GULP1 NM_016315 human genbank 54_36p 1 validated missense c.659 p.I220T 1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors COL3A1 1281 genome.wustl.edu 36 2 189564486 189564486 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 189564486 189564486 G A SNP COL3A1 NM_000090 human genbank 54_36p 1 reviewed missense c.881 p.G294E 1 HMMPfam_Collagen "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL3A1 1281 genome.wustl.edu 36 2 189581976 189581976 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 189581976 189581976 G A SNP COL3A1 NM_000090 human genbank 54_36p 1 reviewed missense c.3607 p.A1203T 0.29 NULL "HMMPfam_COLFI,HMMSmart_SM00038,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen" - no_errors COL5A2 1290 genome.wustl.edu 36 2 189607183 189607183 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 189607183 189607183 C T SNP COL5A2 NM_000393 human genbank 54_36p -1 reviewed missense c.4358 p.R1453Q 1 "HMMSmart_COLFI,HMMPfam_COLFI" "HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI" - no_errors KRT18P19 339781 genome.wustl.edu 36 2 189885098 189885098 + RNA SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 189885098 189885098 A T SNP KRT18P19 XR_016833 human genbank 54_36p -1 model rna NULL NULL 0.98 - - - pseudogene MYT1L 23040 genome.wustl.edu 36 2 1900017 1900017 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 1900017 1900017 C G SNP MYT1L NM_015025 human genbank 54_36p -1 validated missense c.1579 p.G527R 1 "superfamily_SSF103637,HMMPfam_zf-C2HC" "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1" - no_errors ASNSD1 54529 genome.wustl.edu 36 2 190239831 190239831 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 190239831 190239831 C A SNP ASNSD1 NM_019048 human genbank 54_36p 1 validated missense c.728 p.P243H 1 NULL "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_Asn_synthase" - no_errors ASNSD1 54529 genome.wustl.edu 36 2 190240088 190240088 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 190240088 190240088 G T SNP ASNSD1 NM_019048 human genbank 54_36p 1 validated missense c.985 p.G329C 1 "HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like" "HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases)" - no_errors ANKAR 150709 genome.wustl.edu 36 2 190310768 190310768 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 190310768 190310768 C G SNP ANKAR NM_144708 human genbank 54_36p 1 provisional missense c.3325 p.L1109V 1 superfamily_ARM repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors MYT1L 23040 genome.wustl.edu 36 2 1905091 1905091 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 1905091 1905091 T A SNP MYT1L NM_015025 human genbank 54_36p -1 validated missense c.1457 p.H486L 1 NULL "HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1,superfamily_SSF103637" - no_errors MYT1L 23040 genome.wustl.edu 36 2 1905837 1905837 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 1905837 1905837 A C SNP MYT1L NM_015025 human genbank 54_36p -1 validated missense c.711 p.S237R 0.05 NULL "HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1,superfamily_SSF103637" - no_errors INPP1 3628 genome.wustl.edu 36 2 190942166 190942166 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 190942166 190942166 G T SNP INPP1 NM_002194 human genbank 54_36p 1 reviewed missense c.559 p.G187C 1 "superfamily_Carbohydrate phosphatase,HMMPfam_Inositol_P" "superfamily_Carbohydrate phosphatase,HMMPfam_Inositol_P,PatternScan_IMP_1,PatternScan_IMP_2" - no_errors GLS 2744 genome.wustl.edu 36 2 191527599 191527599 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 191527599 191527599 C G SNP GLS NM_014905 human genbank 54_36p 1 validated missense c.1757 p.S586C 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors STAT1 6772 genome.wustl.edu 36 2 191547839 191547839 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 191547839 191547839 C G SNP STAT1 NM_007315 human genbank 54_36p -1 reviewed missense c.2200 p.V734L 1 NULL "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2" - no_errors STAT4 6775 genome.wustl.edu 36 2 191630994 191630994 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 191630994 191630994 G A SNP STAT4 NM_003151 human genbank 54_36p -1 reviewed missense c.1201 p.H401Y 1 "HMMPfam_STAT_bind,superfamily_P53_like_DNA_bnd" "superfamily_STAT,HMMPfam_STAT_int,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_P53_like_DNA_bnd,superfamily_SSF55550,HMMPfam_SH2,HMMSmart_SH2" - no_errors SDPR 8436 genome.wustl.edu 36 2 192419516 192419516 + Silent SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 192419516 192419516 C T SNP SDPR NM_004657 human genbank 54_36p -1 reviewed silent c.381 p.A127 0.58 NULL NULL - no_errors DNAH7 56171 genome.wustl.edu 36 2 196457735 196457735 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 196457735 196457735 C A SNP DNAH7 NM_018897 human genbank 54_36p -1 validated missense c.5582 p.C1861F 1 NULL "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT" - no_errors HECW2 57520 genome.wustl.edu 36 2 196880187 196880187 + Silent SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 196880187 196880187 G A SNP HECW2 NM_020760 human genbank 54_36p -1 provisional silent c.2601 p.R867 1 NULL "HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HECW2 57520 genome.wustl.edu 36 2 196892797 196892797 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 196892797 196892797 G A SNP HECW2 NM_020760 human genbank 54_36p -1 provisional silent c.1062 p.D354 0.99 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors HECW2 57520 genome.wustl.edu 36 2 197006214 197006214 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 197006214 197006214 C T SNP HECW2 NM_020760 human genbank 54_36p -1 provisional missense c.179 p.S60N 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors PGAP1 80055 genome.wustl.edu 36 2 197466198 197466198 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 197466198 197466198 T C SNP PGAP1 NM_024989 human genbank 54_36p -1 validated missense c.944 p.K315R 1 NULL "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" - no_errors PGAP1 80055 genome.wustl.edu 36 2 197489528 197489528 + Silent SNP T T C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 197489528 197489528 T C SNP PGAP1 NM_024989 human genbank 54_36p -1 validated silent c.336 p.A112 1 "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" - no_errors ANKRD44 91526 genome.wustl.edu 36 2 197574733 197574733 + Silent SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 197574733 197574733 C T SNP ANKRD44 NM_153697 human genbank 54_36p -1 provisional silent c.2349 p.L783 1 "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD44 91526 genome.wustl.edu 36 2 197578804 197578804 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 197578804 197578804 C T SNP ANKRD44 NM_153697 human genbank 54_36p -1 provisional missense c.2131 p.G711R 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors ANKRD44 91526 genome.wustl.edu 36 2 197661757 197661757 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 197661757 197661757 G A SNP ANKRD44 ENST00000282272 human ensembl 54_36p -1 known silent c.1149 p.H383 1 superfamily_Ankyrin repeat "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_stop_codon BOLL 66037 genome.wustl.edu 36 2 198339554 198339554 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 198339554 198339554 A C SNP BOLL NM_197970 human genbank 54_36p -1 validated missense c.535 p.S179A 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors BOLL 66037 genome.wustl.edu 36 2 198354767 198354767 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 198354767 198354767 A G SNP BOLL NM_197970 human genbank 54_36p -1 validated missense c.89 p.L30S 1 superfamily_SSF54928 "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors SATB2 23314 genome.wustl.edu 36 2 199845581 199845581 + Silent SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 199845581 199845581 C T SNP SATB2 NM_015265 human genbank 54_36p -1 validated silent c.1800 p.A600 0.75 NULL "HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox" - no_errors WDR35 57539 genome.wustl.edu 36 2 20017094 20017094 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20017094 20017094 C T SNP WDR35 NM_001006657 human genbank 54_36p -1 reviewed missense c.1415 p.R472Q 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors SPATS2L 26010 genome.wustl.edu 36 2 200992426 200992426 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 200992426 200992426 T A SNP LOC26010 NM_001100422 human genbank 54_36p 1 validated missense c.407 p.I136K 0 HMMPfam_DUF1387 HMMPfam_DUF1387 - no_errors AOX1 316 genome.wustl.edu 36 2 201182370 201182370 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 201182370 201182370 T G SNP AOX1 NM_001159 human genbank 54_36p 1 reviewed missense c.1141 p.L381V 0 "superfamily_FAD-binding domain,HMMPfam_FAD_binding_5" ############################################################################################################################################################################################################################################################### - no_errors PPIL3 53938 genome.wustl.edu 36 2 201460795 201460795 + Splice_Site SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 201460795 201460795 C T SNP PPIL3 NM_131916 human genbank 54_36p -1 reviewed splice_site c.1-1 e1-1 0 - - - no_errors FAM126B 285172 genome.wustl.edu 36 2 201554792 201554792 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 201554792 201554792 C A SNP FAM126B NM_173822 human genbank 54_36p -1 validated missense c.1039 p.A347S 1 NULL HMMPfam_Hyccin - no_errors CASP10 843 genome.wustl.edu 36 2 201778884 201778884 + Silent SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 201778884 201778884 C T SNP CASP10 NM_032977 human genbank 54_36p 1 reviewed silent c.756 p.V252 0 NULL "superfamily_DEATH_like,HMMSmart_DED,HMMPfam_DED,superfamily_SSF52129,HMMSmart_CASc,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors ALS2CR11 151254 genome.wustl.edu 36 2 202138809 202138809 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 202138809 202138809 G T SNP ALS2CR11 NM_152525 human genbank 54_36p -1 validated missense c.865 p.P289T 1 NULL NULL - no_errors MPP4 58538 genome.wustl.edu 36 2 202258973 202258973 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 202258973 202258973 G C SNP MPP4 NM_033066 human genbank 54_36p -1 reviewed missense c.406 p.P136A 1 "HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like" ############################################################################################################################################################################################################################################################### - no_errors CDK15 65061 genome.wustl.edu 36 2 202408661 202408661 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 202408661 202408661 G A SNP PFTK2 NM_139158 human genbank 54_36p 1 provisional missense c.628 p.V210M 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SDC1 6382 genome.wustl.edu 36 2 20267218 20267218 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20267218 20267218 C A SNP SDC1 NM_001006946 human genbank 54_36p -1 reviewed missense c.464 p.R155M 0.06 HMMPfam_Syndecan "HMMPfam_Syndecan,HMMSmart_4.1m,PatternScan_SYNDECAN" - no_errors SDC1 6382 genome.wustl.edu 36 2 20268626 20268626 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20268626 20268626 C G SNP SDC1 NM_001006946 human genbank 54_36p -1 reviewed missense c.107 p.G36A 0.74 HMMPfam_Syndecan "HMMPfam_Syndecan,PatternScan_SYNDECAN,HMMSmart_4.1m" - no_errors SDC1 6382 genome.wustl.edu 36 2 20268660 20268660 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20268660 20268660 C G SNP SDC1 NM_001006946 human genbank 54_36p -1 reviewed missense c.73 p.V25L 0.01 HMMPfam_Syndecan "HMMPfam_Syndecan,PatternScan_SYNDECAN,HMMSmart_4.1m" - no_errors LOC151457 151457 genome.wustl.edu 36 2 20303334 20303334 + RNA SNP C C A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20303334 20303334 C A SNP LOC151457 XR_016242 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene BMPR2 659 genome.wustl.edu 36 2 203092015 203092015 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 203092015 203092015 C A SNP BMPR2 NM_001204 human genbank 54_36p 1 reviewed missense c.847 p.P283T 1 "superfamily_Kinase_like,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ST,superfamily_SSF57302,HMMPfam_Activin_recp,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors BMPR2 659 genome.wustl.edu 36 2 203132718 203132718 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 203132718 203132718 G C SNP BMPR2 NM_001204 human genbank 54_36p 1 reviewed missense c.2921 p.R974P 1 NULL "HMMPfam_Activin_recp,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF57302" - no_errors FAM117B 150864 genome.wustl.edu 36 2 203338550 203338550 + Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 203338550 203338550 A T SNP FAM117B NM_173511 human genbank 54_36p 1 validated nonsense c.856 p.K286* 1 NULL NULL - no_errors ALS2CR8 79800 genome.wustl.edu 36 2 203515797 203515797 + Silent SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 203515797 203515797 T C SNP ALS2CR8 NM_001104586 human genbank 54_36p 1 validated silent c.168 p.N56 0.02 NULL NULL - no_errors PUM2 23369 genome.wustl.edu 36 2 20371776 20371776 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20371776 20371776 A G SNP PUM2 NM_015317 human genbank 54_36p -1 provisional missense c.569 p.L190S 1 NULL "superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025" - no_errors RAPH1 65059 genome.wustl.edu 36 2 204028509 204028509 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 204028509 204028509 C T SNP RAPH1 NM_213589 human genbank 54_36p -1 validated missense c.1198 p.E400K 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "HMMSmart_SM00314,HMMPfam_RA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors RHOB 388 genome.wustl.edu 36 2 20511087 20511087 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 20511087 20511087 T G SNP RHOB NM_004040 human genbank 54_36p 1 validated missense c.380 p.V127G 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174" - no_errors NRP2 8828 genome.wustl.edu 36 2 206349354 206349354 + Silent SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 206349354 206349354 C T SNP NRP2 NM_018534 human genbank 54_36p 1 reviewed silent c.2580 p.H860 1 NULL "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM" - no_errors NDUFS1 4719 genome.wustl.edu 36 2 206711533 206711533 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 206711533 206711533 A C SNP NDUFS1 NM_005006 human genbank 54_36p -1 reviewed missense c.1313 p.L438R 1 "superfamily_SSF53706,HMMPfam_Molybdopterin" "PatternScan_2FE2S_FER_1,superfamily_Ferredoxin,HMMPfam_Fer2,PatternScan_COMPLEX1_75K_1,HMMPfam_NADH-G_4Fe-4S_3,PatternScan_COMPLEX1_75K_2,superfamily_SSF54862,PatternScan_COMPLEX1_75K_3,superfamily_SSF53706,HMMPfam_Molybdopterin,HMMPfam_DUF1982" - no_errors ZDBF2 57683 genome.wustl.edu 36 2 206880159 206880159 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 206880159 206880159 G A SNP ZDBF2 NM_020923 human genbank 54_36p 1 validated missense c.2662 p.E888K 0 NULL HMMPfam_zf-DBF - no_errors PIKFYVE 200576 genome.wustl.edu 36 2 208846602 208846602 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 208846602 208846602 G C SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated missense c.222 p.W74C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PIKFYVE 200576 genome.wustl.edu 36 2 208898536 208898536 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 208898536 208898536 C A SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated missense c.2756 p.P919H 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors PIKFYVE 200576 genome.wustl.edu 36 2 208909874 208909874 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 208909874 208909874 C G SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated missense c.4588 p.L1530V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LOC402116 402116 genome.wustl.edu 36 2 209753098 209753098 + RNA SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 209753098 209753098 G T SNP LOC402116 XR_017081 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC402116 402116 genome.wustl.edu 36 2 209753507 209753507 + RNA SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 209753507 209753507 G C SNP LOC402116 XR_017081 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC402116 402116 genome.wustl.edu 36 2 209753827 209753827 + RNA SNP A A G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 209753827 209753827 A G SNP LOC402116 XR_017081 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene MAP2 4133 genome.wustl.edu 36 2 210226218 210226218 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 210226218 210226218 C G SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.79 p.H27D 1 NULL "HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP" - no_errors MAP2 4133 genome.wustl.edu 36 2 210267017 210267017 + Silent SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 210267017 210267017 C G SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed silent c.1878 p.S626 0.85 HMMPfam_MAP2_projctn "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors APOB 338 genome.wustl.edu 36 2 21082364 21082364 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 21082364 21082364 C G SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.10881 p.K3627N 1 NULL "superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081" - no_errors APOB 338 genome.wustl.edu 36 2 21086660 21086660 + Silent SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 21086660 21086660 T C SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.6585 p.K2195 0.01 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 genome.wustl.edu 36 2 21088665 21088665 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 21088665 21088665 A T SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.4580 p.L1527H 0.04 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors CPS1 1373 genome.wustl.edu 36 2 211129805 211129805 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 211129805 211129805 G A SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed missense c.103 p.G35S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors APOB 338 genome.wustl.edu 36 2 21113540 21113540 + Silent SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 21113540 21113540 C G SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.630 p.G210 0.7 "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions" "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 genome.wustl.edu 36 2 21114419 21114419 + Silent SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 21114419 21114419 A G SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.453 p.T151 0 "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions" "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors CPS1 1373 genome.wustl.edu 36 2 211149360 211149360 + Silent SNP C C G novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 211149360 211149360 C G SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed silent c.282 p.L94 0.99 "HMMPfam_CPSase_sm_chain,superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain" ############################################################################################################################################################################################################################################################### - no_errors CPS1 1373 genome.wustl.edu 36 2 211168489 211168489 + Silent SNP C C T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 211168489 211168489 C T SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed silent c.1297 p.L433 1 "HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain" ############################################################################################################################################################################################################################################################### - no_errors CPS1 1373 genome.wustl.edu 36 2 211185234 211185234 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 211185234 211185234 G C SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed missense c.2540 p.S847T 1 "HMMPfam_CPSase_L_D3,superfamily_Carbamoyl phosphate synthetase large subunit connection domain" ############################################################################################################################################################################################################################################################### - no_errors SPAG16 79582 genome.wustl.edu 36 2 213937101 213937101 + Silent SNP T T C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 213937101 213937101 T C SNP SPAG16 NM_024532 human genbank 54_36p 1 validated silent c.819 p.G273 0.1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ABCA12 26154 genome.wustl.edu 36 2 215548940 215548940 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 215548940 215548940 A G SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.5195 p.I1732T 0.96 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA12 26154 genome.wustl.edu 36 2 215570674 215570674 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 215570674 215570674 C G SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.3284 p.R1095P 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ATIC 471 genome.wustl.edu 36 2 215911798 215911798 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 215911798 215911798 C T SNP ATIC NM_004044 human genbank 54_36p 1 validated missense c.1150 p.L384F 1 "HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly" "superfamily_SSF52335,HMMPfam_MGS,HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly" - no_errors RPL37A 6168 genome.wustl.edu 36 2 217072952 217072952 + Silent SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 217072952 217072952 C T SNP RPL37A NM_000998 human genbank 54_36p 1 reviewed silent c.168 p.H56 1 "HMMPfam_Ribosomal_L37ae,superfamily_Zn-binding ribosomal proteins" "HMMPfam_Ribosomal_L37ae,superfamily_Zn-binding ribosomal proteins" - no_errors TNS1 7145 genome.wustl.edu 36 2 218458127 218458127 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 218458127 218458127 C A SNP TNS1 NM_022648 human genbank 54_36p -1 reviewed missense c.747 p.K249N 1 "HMMPfam_PTEN_C2,superfamily_C2_CaLB" "superfamily_SSF52799,HMMPfam_PTEN_C2,superfamily_C2_CaLB,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PTB" - no_errors GPBAR1 151306 genome.wustl.edu 36 2 218836429 218836429 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 218836429 218836429 C G SNP GPBAR1 NM_001077191 human genbank 54_36p 1 reviewed missense c.737 p.S246C 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region AAMP 14 genome.wustl.edu 36 2 218839034 218839034 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 218839034 218839034 T A SNP AAMP NM_001087 human genbank 54_36p -1 reviewed nonsense c.760 p.K254* 0.99 "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors SLC11A1 6556 genome.wustl.edu 36 2 218962860 218962860 + Silent SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 218962860 218962860 C T SNP SLC11A1 NM_000578 human genbank 54_36p 1 reviewed silent c.819 p.R273 0.01 HMMPfam_Nramp HMMPfam_Nramp - no_errors SLC11A1 6556 genome.wustl.edu 36 2 218967704 218967704 + Silent SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 218967704 218967704 C A SNP SLC11A1 NM_000578 human genbank 54_36p 1 reviewed silent c.1494 p.G498 0.05 NULL HMMPfam_Nramp - no_errors PLCD4 84812 genome.wustl.edu 36 2 219205133 219205133 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219205133 219205133 A G SNP PLCD4 NM_032726 human genbank 54_36p 1 provisional missense c.1303 p.K435E 1 "HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases" ############################################################################################################################################################################################################################################################### - no_errors CDK5R2 8941 genome.wustl.edu 36 2 219533673 219533673 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219533673 219533673 G T SNP CDK5R2 NM_003936 human genbank 54_36p 1 reviewed missense c.887 p.R296L 1 "HMMPfam_CDK5_activator,superfamily_Cyclin_like" "HMMPfam_CDK5_activator,superfamily_Cyclin_like" - no_errors CCDC108 255101 genome.wustl.edu 36 2 219600667 219600667 + Silent SNP A A C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219600667 219600667 A C SNP CCDC108 NM_194302 human genbank 54_36p -1 provisional silent c.2160 p.P720 0 NULL "PatternScan_MGMT,superfamily_PapD-like" - no_errors CCDC108 255101 genome.wustl.edu 36 2 219608429 219608429 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219608429 219608429 A T SNP CCDC108 NM_152389 human genbank 54_36p -1 provisional missense c.364 p.S122T 0 NULL NULL - no_errors CCDC108 255101 genome.wustl.edu 36 2 219608465 219608465 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219608465 219608465 G A SNP CCDC108 NM_194302 human genbank 54_36p -1 provisional missense c.523 p.L175F 0.53 NULL "PatternScan_MGMT,superfamily_PapD-like" - no_errors TUBA4A 7277 genome.wustl.edu 36 2 219824013 219824013 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219824013 219824013 C G SNP TUBA4A NM_006000 human genbank 54_36p -1 reviewed missense c.652 p.D218H 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBA4A 7277 genome.wustl.edu 36 2 219824670 219824670 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219824670 219824670 C T SNP TUBA4A NM_006000 human genbank 54_36p -1 reviewed missense c.236 p.R79Q 1 "HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TUBA4B 80086 genome.wustl.edu 36 2 219844504 219844504 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219844504 219844504 G A SNP TUBA4B ENST00000295766 human ensembl 54_36p 1 known missense c.565 p.V189M 1 HMMPfam_Tubulin_C "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,HMMPfam_Tubulin_C" - no_errors PTPRN 5798 genome.wustl.edu 36 2 219871007 219871007 + Silent SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 219871007 219871007 C G SNP PTPRN NM_002846 human genbank 54_36p -1 reviewed silent c.1731 p.V577 1 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors SPEG 10290 genome.wustl.edu 36 2 220017706 220017706 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 220017706 220017706 C T SNP SPEG NM_005876 human genbank 54_36p 1 validated missense c.476 p.T159M 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SPEG 10290 genome.wustl.edu 36 2 220024122 220024154 + In_Frame_Del DEL GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 220024122 220024154 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - DEL SPEG NM_005876 human genbank 54_36p 1 validated in_frame_del c.2134_2166 p.SAGEEPLEAPV713in_frame_del 1.000:1.000:1.000:1.000:0.997:0.463:0.956:0.951:0.626:0.998:0.999:0.997:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.885:0.893:0.939:0.950:1.000:1.000:1.000:1.000:1.000:0.961:0.995:0.991:0.073 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[220024102,220024245])" no_errors ACCN4 55515 genome.wustl.edu 36 2 220108219 220108219 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 220108219 220108219 G T SNP ACCN4 NM_018674 human genbank 54_36p 1 reviewed missense c.1539 p.M513I 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors INHA 3623 genome.wustl.edu 36 2 220148263 220148263 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 220148263 220148263 G C SNP INHA NM_002191 human genbank 54_36p 1 reviewed missense c.872 p.C291S 1 "superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1" "superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1" - no_errors STK11IP 114790 genome.wustl.edu 36 2 220175042 220175042 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 220175042 220175042 C T SNP STK11IP ENST00000295641 human ensembl 54_36p 1 known missense c.431 p.A144V 1 NULL "superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1" - no_errors SH3YL1 26751 genome.wustl.edu 36 2 221084 221084 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 221084 221084 T C SNP SH3YL1 NM_015677 human genbank 54_36p -1 provisional missense c.353 p.Y118C 1 HMMPfam_DUF500 "HMMPfam_DUF500,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors KCNE4 23704 genome.wustl.edu 36 2 223626183 223626183 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 223626183 223626183 T G SNP KCNE4 NM_080671 human genbank 54_36p 1 validated missense c.391 p.S131A 0.42 NULL HMMPfam_ISK_Channel - no_errors SERPINE2 5270 genome.wustl.edu 36 2 224571223 224571223 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 224571223 224571223 C T SNP SERPINE2 NM_006216 human genbank 54_36p -1 validated missense c.340 p.V114M 0.87 "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093" "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors DOCK10 55619 genome.wustl.edu 36 2 225378178 225378178 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 225378178 225378178 G A SNP DOCK10 NM_014689 human genbank 54_36p -1 validated missense c.4040 p.T1347M 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto" - no_errors KIAA1486 57624 genome.wustl.edu 36 2 225981934 225981934 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 225981934 225981934 G A SNP KIAA1486 NM_020864 human genbank 54_36p 1 validated missense c.94 p.D32N 1 NULL NULL - no_errors KIAA1486 57624 genome.wustl.edu 36 2 225981947 225981947 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 225981947 225981947 T C SNP KIAA1486 NM_020864 human genbank 54_36p 1 validated missense c.107 p.I36T 1 NULL NULL - no_errors RHBDD1 84236 genome.wustl.edu 36 2 227487240 227487240 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 227487240 227487240 A G SNP RHBDD1 NM_032276 human genbank 54_36p 1 provisional missense c.785 p.D262G 0.65 NULL HMMPfam_Rhomboid - no_errors COL4A4 1286 genome.wustl.edu 36 2 227633177 227633177 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 227633177 227633177 C A SNP COL4A4 NM_000092 human genbank 54_36p -1 reviewed missense c.2083 p.G695C 0.38 HMMPfam_Collagen "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like" - no_errors COL4A4 1286 genome.wustl.edu 36 2 227667198 227667206 + In_Frame_Del DEL GGAAGCCCA GGAAGCCCA - novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 GGAAGCCCA GGAAGCCCA GGAAGCCCA - GGAAGCCCA GGAAGCCCA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 227667198 227667206 GGAAGCCCA - DEL COL4A4 NM_000092 human genbank 54_36p -1 reviewed in_frame_del c.1256_1248 p.LPG418in_frame_del 0.899:0.912:0.886:0.793:0.455:0.432:0.576:0.581:0.508 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" "(deletion:cds_exon[227667085,227667249])" no_errors AGFG1 3267 genome.wustl.edu 36 2 228126694 228126694 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 228126694 228126694 A G SNP AGFG1 NM_004504 human genbank 54_36p 1 reviewed missense c.1568 p.K523R 1 NULL "HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap" - no_errors SPHKAP 80309 genome.wustl.edu 36 2 228592495 228592495 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 228592495 228592495 A G SNP SPHKAP NM_030623 human genbank 54_36p -1 validated missense c.1319 p.V440A 0 NULL HMMPfam_AKAP_110 - no_errors TRIP12 9320 genome.wustl.edu 36 2 230358756 230358756 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 230358756 230358756 G A SNP TRIP12 NM_004238 human genbank 54_36p -1 provisional silent c.4830 p.G1610 1 "superfamily_HECT,HMMSmart_HECTc" "superfamily_ARM-type_fold,HMMPfam_WWE,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors SLC16A14 151473 genome.wustl.edu 36 2 230619465 230619465 + Silent SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 230619465 230619465 C A SNP SLC16A14 NM_152527 human genbank 54_36p -1 provisional silent c.621 p.A207 0.98 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SP110 3431 genome.wustl.edu 36 2 230745064 230745064 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 230745064 230745064 T A SNP SP110 NM_080424 human genbank 54_36p -1 reviewed nonsense c.1777 p.K593* 0.01 superfamily_Bromodomain "HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors SP110 3431 genome.wustl.edu 36 2 230785783 230785783 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 230785783 230785783 G C SNP SP110 NM_080424 human genbank 54_36p -1 reviewed missense c.520 p.P174A 0.01 NULL "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP100 6672 genome.wustl.edu 36 2 231019810 231019812 + In_Frame_Del DEL GAA GAA - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GAA GAA GAA - GAA GAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 231019810 231019812 GAA - DEL SP100 NM_001080391 human genbank 54_36p 1 validated in_frame_del c.472_474 p.E161in_frame_del 0.001:0.000:0.000 NULL "HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" "(deletion:cds_exon[231019778,231019861])" no_errors SP100 6672 genome.wustl.edu 36 2 231114890 231114890 + Silent SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 231114890 231114890 T C SNP SP100 NM_001080391 human genbank 54_36p 1 validated silent c.2443 p.L815 0.96 "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain" "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors GPR55 9290 genome.wustl.edu 36 2 231483234 231483234 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 231483234 231483234 C G SNP GPR55 NM_005683 human genbank 54_36p -1 validated missense c.688 p.A230P 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PSMD1 5707 genome.wustl.edu 36 2 231734360 231734360 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 231734360 231734360 G T SNP PSMD1 NM_002807 human genbank 54_36p 1 reviewed missense c.2281 p.V761F 1 HMMPfam_PC_rep "HMMPfam_PC_rep,superfamily_ARM repeat" - no_errors NCL 4691 genome.wustl.edu 36 2 232028561 232028561 + Silent SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 232028561 232028561 G A SNP NCL NM_005381 human genbank 54_36p -1 reviewed silent c.1851 p.F617 1 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" "HMMPfam_FYDLN_acid,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors COPS7B 64708 genome.wustl.edu 36 2 232369216 232369216 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 232369216 232369216 A G SNP COPS7B NM_022730 human genbank 54_36p 1 provisional missense c.484 p.I162V 1 HMMSmart_SM00088 "HMMPfam_PCI,HMMSmart_SM00088" - no_errors ALPP 250 genome.wustl.edu 36 2 232951766 232951766 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 232951766 232951766 C T SNP ALPP NM_001632 human genbank 54_36p 1 reviewed missense c.10 p.P4S 0.02 NULL "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE" - no_errors GIGYF2 26058 genome.wustl.edu 36 2 233369150 233369150 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 233369150 233369150 C A SNP GIGYF2 NM_001103147 human genbank 54_36p 1 validated nonsense c.1677 p.Y559* 1 "superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF" "superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF" - no_errors NGEF 25791 genome.wustl.edu 36 2 233465877 233465877 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 233465877 233465877 G T SNP NGEF NM_019850 human genbank 54_36p -1 validated missense c.1117 p.Q373K 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors NGEF 25791 genome.wustl.edu 36 2 233467843 233467843 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 233467843 233467843 C A SNP NGEF NM_019850 human genbank 54_36p -1 validated missense c.856 p.A286S 1 "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors USP40 55230 genome.wustl.edu 36 2 234096600 234096600 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 234096600 234096600 C G SNP USP40 NM_018218 human genbank 54_36p -1 validated missense c.1948 p.E650Q 0.02 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UGT1A8 54576 genome.wustl.edu 36 2 234191249 234191249 + Missense_Mutation SNP C C T rs45504099 byFrequency TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2 234191249 234191249 C T SNP UGT1A8 NM_019076 human genbank 54_36p 1 reviewed missense c.157 p.H53Y 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A10 54575 genome.wustl.edu 36 2 234210018 234210018 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 234210018 234210018 C G SNP UGT1A10 NM_019075 human genbank 54_36p 1 reviewed missense c.111 p.H37Q 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A9 54600 genome.wustl.edu 36 2 234245851 234245851 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 234245851 234245851 G A SNP UGT1A9 NM_021027 human genbank 54_36p 1 reviewed missense c.532 p.E178K 0.01 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A9 54600 genome.wustl.edu 36 2 234246084 234246084 + Silent SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 234246084 234246084 G A SNP UGT1A9 NM_021027 human genbank 54_36p 1 reviewed silent c.765 p.T255 0.01 "HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" "HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" - no_errors TRPM8 79054 genome.wustl.edu 36 2 234527354 234527355 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 234527354 234527355 GC AT DNP TRPM8 NM_024080 human genbank 54_36p 1 validated missense c.1195_1196 p.A399I 1.000:1.000 NULL HMMPfam_Ion_trans - no_errors SH3BP4 23677 genome.wustl.edu 36 2 235615550 235615550 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 235615550 235615550 G A SNP SH3BP4 NM_014521 human genbank 54_36p 1 reviewed silent c.1398 p.V466 0.8 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors AGAP1 116987 genome.wustl.edu 36 2 236482206 236482206 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 236482206 236482206 C T SNP AGAP1 NM_001037131 human genbank 54_36p 1 validated missense c.1241 p.T414M 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" ############################################################################################################################################################################################################################################################### - no_errors COL6A3 1293 genome.wustl.edu 36 2 237908009 237908009 + Silent SNP T T G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 237908009 237908009 T G SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed silent c.9228 p.T3076 1 superfamily_Fibronectin type III "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors COL6A3 1293 genome.wustl.edu 36 2 237939079 237939079 + Splice_Site SNP C A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 237939079 237939079 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed splice_site c.5838+1 e11+1 1 - - - no_errors COL6A3 1293 genome.wustl.edu 36 2 237942408 237942408 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 237942408 237942408 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.4437 p.Q1479H 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COL6A3 1293 genome.wustl.edu 36 2 237945697 237945697 + Silent SNP C C A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 237945697 237945697 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed silent c.3702 p.V1234 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COL6A3 1293 genome.wustl.edu 36 2 237950203 237950203 + Silent SNP T T C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 237950203 237950203 T C SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed silent c.3021 p.P1007 0.12 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors MLPH 79083 genome.wustl.edu 36 2 238113861 238113861 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 238113861 238113861 G C SNP MLPH NM_024101 human genbank 54_36p 1 reviewed missense c.1236 p.K412N 0 NULL "superfamily_FYVE/PHD zinc finger,HMMPfam_MOBP" - no_errors ATAD2B 54454 genome.wustl.edu 36 2 23834265 23834265 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 23834265 23834265 G C SNP ATAD2B NM_017552 human genbank 54_36p -1 validated missense c.3605 p.S1202C 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors RBM44 375316 genome.wustl.edu 36 2 238390960 238390960 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 238390960 238390960 G A SNP RBM44 NM_001080504 human genbank 54_36p 1 validated missense c.659 p.G220E 0 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors SCLY 51540 genome.wustl.edu 36 2 238656632 238656632 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 238656632 238656632 A T SNP SCLY NM_016510 human genbank 54_36p 1 validated missense c.782 p.Y261F 1 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5" - no_errors ILKAP 80895 genome.wustl.edu 36 2 238755558 238755558 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 238755558 238755558 C G SNP ILKAP NM_030768 human genbank 54_36p -1 reviewed missense c.723 p.L241F 1 "superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG" "superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C" - no_errors ILKAP 80895 genome.wustl.edu 36 2 238757087 238757087 + Silent SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 238757087 238757087 C T SNP ILKAP NM_030768 human genbank 54_36p -1 reviewed silent c.660 p.T220 0.97 "HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C" "PatternScan_PP2C,HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C" - no_errors ILKAP 80895 genome.wustl.edu 36 2 238767691 238767691 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 238767691 238767691 A G SNP ILKAP NM_030768 human genbank 54_36p -1 reviewed missense c.142 p.F48L 1 NULL "PatternScan_PP2C,HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C" - no_errors ATAD2B 54454 genome.wustl.edu 36 2 23946050 23946050 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 23946050 23946050 T C SNP ATAD2B NM_017552 human genbank 54_36p -1 validated missense c.1063 p.R355G 1 NULL "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,PatternScan_BROMODOMAIN_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PRR21 643905 genome.wustl.edu 36 2 240630920 240630920 + Silent SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 240630920 240630920 A G SNP LOC643905 NM_001080835 human genbank 54_36p -1 predicted silent c.153 p.H51 0 NULL NULL - no_errors MFSD2B 388931 genome.wustl.edu 36 2 24092584 24092584 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 24092584 24092584 G T SNP LOC388931 NM_001080473 human genbank 54_36p 1 predicted missense c.277 p.A93S 0.97 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors MFSD2B 388931 genome.wustl.edu 36 2 24098077 24098077 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 24098077 24098077 T A SNP LOC388931 NM_001080473 human genbank 54_36p 1 predicted missense c.737 p.I246N 0.04 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors CAPN10 11132 genome.wustl.edu 36 2 241182798 241182798 + Silent SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 241182798 241182798 A G SNP CAPN10 NM_023083 human genbank 54_36p 1 reviewed silent c.996 p.T332 1 superfamily_Cysteine proteinases "HMMSmart_SM00230,superfamily_Cysteine proteinases,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,superfamily_Calpain large subunit middle domain (domain III),HMMPfam_Calpain_III,HMMSmart_SM00720" - no_errors PASK 23178 genome.wustl.edu 36 2 241725336 241725336 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 241725336 241725336 C T SNP PASK NM_015148 human genbank 54_36p -1 validated missense c.893 p.R298K 1 superfamily_PYP-like sensor domain (PAS domain) "HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors C2orf85 285093 genome.wustl.edu 36 2 242463887 242463887 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 242463887 242463887 G A SNP C2orf85 NM_173821 human genbank 54_36p 1 validated missense c.1507 p.G503S 0.01 NULL NULL - no_errors ITSN2 50618 genome.wustl.edu 36 2 24287180 24287180 + Silent SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 24287180 24287180 C T SNP ITSN2 NM_006277 human genbank 54_36p -1 reviewed silent c.4227 p.A1409 0.52 superfamily_DBL homology domain (DH-domain) ############################################################################################################################################################################################################################################################### - no_errors ADCY3 109 genome.wustl.edu 36 2 24904517 24904517 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 24904517 24904517 G T SNP ADCY3 NM_004036 human genbank 54_36p -1 reviewed nonsense c.2190 p.Y730* 1 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors DNMT3A 1788 genome.wustl.edu 36 2 25310663 25310663 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 25310663 25310663 C T SNP DNMT3A NM_022552 human genbank 54_36p -1 reviewed missense c.2728 p.A910T 1 NULL "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1" - no_errors DNMT3A 1788 genome.wustl.edu 36 2 25316788 25316788 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 25316788 25316788 G A SNP DNMT3A NM_022552 human genbank 54_36p -1 reviewed missense c.2209 p.L737F 1 "HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT" - no_errors DNMT3A 1788 genome.wustl.edu 36 2 25323031 25323031 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 25323031 25323031 A G SNP DNMT3A NM_022552 human genbank 54_36p -1 reviewed missense c.1241 p.F414S 1 superfamily_Tudor/PWWP/MBT "HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT" - no_errors KIF3C 3797 genome.wustl.edu 36 2 26057663 26057663 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 26057663 26057663 T G SNP KIF3C NM_002254 human genbank 54_36p -1 validated missense c.628 p.N210H 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_RIBOSOMAL_L2,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HADHB 3032 genome.wustl.edu 36 2 26350074 26350074 + Silent SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 26350074 26350074 C T SNP HADHB NM_000183 human genbank 54_36p 1 reviewed silent c.306 p.I102 1 "superfamily_Thiolase-like,HMMPfam_Thiolase_N" "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors OTOF 9381 genome.wustl.edu 36 2 26543219 26543219 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 26543219 26543219 G A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.4367 p.S1456F 1 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors KCNK3 3777 genome.wustl.edu 36 2 26804447 26804447 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 26804447 26804447 G T SNP KCNK3 NM_002246 human genbank 54_36p 1 reviewed missense c.692 p.G231V 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" - no_errors MAPRE3 22924 genome.wustl.edu 36 2 27098614 27098614 + Silent SNP A A G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27098614 27098614 A G SNP MAPRE3 NM_012326 human genbank 54_36p 1 reviewed silent c.24 p.T8 0.97 superfamily_Calponin-homology domain CH-domain "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMPfam_EB1" - no_errors CAD 790 genome.wustl.edu 36 2 27294367 27294367 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27294367 27294367 G C SNP CAD NM_004341 human genbank 54_36p 1 reviewed missense c.201 p.M67I 0.7 "superfamily_CP_synthsmall,HMMPfam_CPSase_sm_chain" ############################################################################################################################################################################################################################################################### - no_errors CAD 790 genome.wustl.edu 36 2 27308418 27308418 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27308418 27308418 G C SNP CAD NM_004341 human genbank 54_36p 1 reviewed missense c.2467 p.V823L 0.89 "HMMPfam_CPSase_L_D3,superfamily_CarbamoylP_synth_lsu_oligo" ############################################################################################################################################################################################################################################################### - no_errors CAD 790 genome.wustl.edu 36 2 27309790 27309790 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27309790 27309790 G A SNP CAD NM_004341 human genbank 54_36p 1 reviewed missense c.3098 p.R1033Q 1 "HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like" ############################################################################################################################################################################################################################################################### - no_errors SNX17 9784 genome.wustl.edu 36 2 27451898 27451898 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27451898 27451898 C T SNP SNX17 NM_014748 human genbank 54_36p 1 reviewed silent c.796 p.L266 0.9 HMMPfam_FERM_M "HMMPfam_PX,HMMSmart_PX,superfamily_PX,HMMPfam_FERM_M" - no_errors PPM1G 5496 genome.wustl.edu 36 2 27458948 27458948 + Silent SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27458948 27458948 G A SNP PPM1G NM_002707 human genbank 54_36p -1 reviewed silent c.1230 p.N410 1 "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C" "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C,PatternScan_PP2C" - no_errors FTH1P3 2498 genome.wustl.edu 36 2 27469649 27469649 + RNA SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27469649 27469649 G A SNP FTHL3P NR_002201 human genbank 54_36p -1 provisional rna NULL NULL 1 - - - pseudogene IFT172 26160 genome.wustl.edu 36 2 27561810 27561810 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27561810 27561810 G A SNP IFT172 NM_015662 human genbank 54_36p -1 validated missense c.104 p.T35I 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like" "HMMSmart_SM00320,superfamily_WD40 repeat-like,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,superfamily_TPR-like,superfamily_HCP-like" - no_errors C2orf16 84226 genome.wustl.edu 36 2 27654707 27654707 + Silent SNP A A G novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27654707 27654707 A G SNP C2orf16 NM_032266 human genbank 54_36p 1 validated silent c.1764 p.V588 1 NULL NULL - no_errors C2orf16 84226 genome.wustl.edu 36 2 27657848 27657848 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27657848 27657848 G C SNP C2orf16 NM_032266 human genbank 54_36p 1 validated missense c.4905 p.Q1635H 0.01 NULL NULL - no_errors ZNF512 84450 genome.wustl.edu 36 2 27674544 27674544 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 27674544 27674544 G T SNP ZNF512 NM_032434 human genbank 54_36p 1 validated missense c.196 p.D66Y 0.72 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FOSL2 2355 genome.wustl.edu 36 2 28485223 28485223 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 28485223 28485223 G A SNP FOSL2 NM_005253 human genbank 54_36p 1 reviewed missense c.448 p.E150K 1 "HMMSmart_SM00338,HMMPfam_bZIP_2" "HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC" - no_errors FOSL2 2355 genome.wustl.edu 36 2 28488703 28488703 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 28488703 28488703 G C SNP FOSL2 NM_005253 human genbank 54_36p 1 reviewed missense c.865 p.E289Q 1 NULL "HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2" - no_errors PLB1 151056 genome.wustl.edu 36 2 28697349 28697349 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 28697349 28697349 G T SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.3527 p.R1176M 0.98 "superfamily_SGNH hydrolase,HMMPfam_Lipase_GDSL" "superfamily_SGNH hydrolase,PatternScan_LIPASE_GDSL_SER,HMMPfam_Lipase_GDSL" - no_errors WDR43 23160 genome.wustl.edu 36 2 29017837 29017837 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 29017837 29017837 G C SNP WDR43 NM_015131 human genbank 54_36p 1 validated missense c.1627 p.D543H 1 "superfamily_WD40_like,HMMPfam_NUC189" "PatternScan_WD_REPEATS_1,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like,HMMPfam_NUC189" - no_errors ALK 238 genome.wustl.edu 36 2 29794060 29794060 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 29794060 29794060 G T SNP ALK NM_004304 human genbank 54_36p -1 reviewed missense c.675 p.S225R 0.01 NULL "superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors XDH 7498 genome.wustl.edu 36 2 31424687 31424687 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 31424687 31424687 G C SNP XDH NM_000379 human genbank 54_36p -1 reviewed missense c.3098 p.T1033S 1 "superfamily_Ald_xan_DH_mo_bd,HMMPfam_Ald_Xan_dh_C2" ############################################################################################################################################################################################################################################################### - no_errors NLRC4 58484 genome.wustl.edu 36 2 32328942 32328942 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 32328942 32328942 C A SNP NLRC4 NM_021209 human genbank 54_36p -1 validated missense c.1495 p.V499L 0 NULL "HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like" - no_errors LTBP1 4052 genome.wustl.edu 36 2 33331329 33331329 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 33331329 33331329 C T SNP LTBP1 NM_206943 human genbank 54_36p 1 reviewed missense c.2081 p.S694F 1 "superfamily_TB module/8-cys domain,HMMPfam_TB" "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors LTBP1 4052 genome.wustl.edu 36 2 33393840 33393840 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 33393840 33393840 G A SNP LTBP1 NM_206943 human genbank 54_36p 1 reviewed missense c.3733 p.D1245N 1 "HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors FAM98A 25940 genome.wustl.edu 36 2 33670758 33670758 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 33670758 33670758 A T SNP FAM98A NM_015475 human genbank 54_36p -1 validated missense c.230 p.L77H 1 HMMPfam_DUF2465 HMMPfam_DUF2465 - no_errors MYADML 151325 genome.wustl.edu 36 2 33805641 33805641 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 33805641 33805641 A T SNP MYADML ENST00000322472 human ensembl 54_36p -1 known missense c.706 p.Y236N 1 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors TTC15 51112 genome.wustl.edu 36 2 3443064 3443064 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 3443064 3443064 C T SNP TTC15 NM_016030 human genbank 54_36p 1 validated missense c.1627 p.R543C 1 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors ADI1 55256 genome.wustl.edu 36 2 3481851 3481851 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 3481851 3481851 T C SNP ADI1 NM_018269 human genbank 54_36p -1 reviewed missense c.430 p.K144E 1 "superfamily_RmlC-like cupins,HMMPfam_ARD" "superfamily_RmlC-like cupins,HMMPfam_ARD" - no_errors RNASEH1 246243 genome.wustl.edu 36 2 3575858 3575858 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 3575858 3575858 G A SNP RNASEH1 NM_002936 human genbank 54_36p -1 validated silent c.489 p.Y163 1 "HMMPfam_RnaseH,superfamily_Ribonuclease H-like" "superfamily_L9 N-domain-like,HMMPfam_RnaseH,superfamily_Ribonuclease H-like" - no_errors CRIM1 51232 genome.wustl.edu 36 2 36598086 36598086 + Silent SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 36598086 36598086 C T SNP CRIM1 NM_016441 human genbank 54_36p 1 provisional silent c.2103 p.C701 1 "HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1" "HMMSmart_IB,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Antistasin,superfamily_Antihaemostatic" - no_errors FEZ2 9637 genome.wustl.edu 36 2 36659442 36659442 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 36659442 36659442 G T SNP FEZ2 NM_001042548 human genbank 54_36p -1 reviewed nonsense c.705 p.Y235* 0.93 HMMPfam_FEZ HMMPfam_FEZ - no_errors HEATR5B 54497 genome.wustl.edu 36 2 37069351 37069351 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 37069351 37069351 C T SNP HEATR5B NM_019024 human genbank 54_36p -1 validated silent c.5853 p.A1951 0.96 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors HEATR5B 54497 genome.wustl.edu 36 2 37069439 37069439 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 37069439 37069439 G C SNP HEATR5B NM_019024 human genbank 54_36p -1 validated missense c.5765 p.P1922R 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors ALLC 55821 genome.wustl.edu 36 2 3721230 3721231 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 3721230 3721231 GG TT DNP ALLC NM_018436 human genbank 54_36p 1 validated missense c.560_561 p.W187F 1.000:0.995 NULL "superfamily_Gal_bind_like,HMMPfam_Allantoicase" - no_errors EIF2AK2 5610 genome.wustl.edu 36 2 37228449 37228449 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 37228449 37228449 G C SNP EIF2AK2 NM_002759 human genbank 54_36p -1 validated missense c.5 p.A2G 0.87 NULL "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PRKD3 23683 genome.wustl.edu 36 2 37371626 37371626 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 37371626 37371626 A C SNP PRKD3 NM_005813 human genbank 54_36p -1 reviewed missense c.448 p.F150V 1 superfamily_Cysteine-rich domain ############################################################################################################################################################################################################################################################### - no_errors CYP1B1 1545 genome.wustl.edu 36 2 38151642 38151642 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 38151642 38151642 G C SNP CYP1B1 NM_000104 human genbank 54_36p -1 reviewed missense c.1359 p.N453K 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors ATL2 64225 genome.wustl.edu 36 2 38423966 38423966 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 38423966 38423966 C G SNP ATL2 NM_022374 human genbank 54_36p -1 validated missense c.311 p.R104P 1 "superfamily_SSF52540,HMMPfam_GBP" "superfamily_SSF52540,HMMPfam_GBP,superfamily_GBP" - no_errors DHX57 90957 genome.wustl.edu 36 2 38939472 38939472 + Silent SNP T T A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 38939472 38939472 T A SNP DHX57 NM_198963 human genbank 54_36p -1 provisional silent c.1422 p.A474 0.11 NULL "HMMPfam_UBA,HMMPfam_RWD,HMMPfam_zf-CCCH,HMMSmart_SM00356,HMMSmart_SM00487,HMMPfam_DEAD,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors SOS1 6654 genome.wustl.edu 36 2 39066780 39066780 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 39066780 39066780 G C SNP SOS1 NM_005633 human genbank 54_36p -1 reviewed missense c.3691 p.L1231V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SOS1 6654 genome.wustl.edu 36 2 39066920 39066920 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 39066920 39066920 G T SNP SOS1 NM_005633 human genbank 54_36p -1 reviewed missense c.3551 p.P1184H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CDKL4 344387 genome.wustl.edu 36 2 39294099 39294099 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 39294099 39294099 G C SNP CDKL4 NM_001009565 human genbank 54_36p -1 provisional missense c.309 p.I103M 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors MAP4K3 8491 genome.wustl.edu 36 2 39339084 39339084 + Silent SNP A A G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 39339084 39339084 A G SNP MAP4K3 NM_003618 human genbank 54_36p -1 reviewed silent c.2379 p.C793 1 "HMMSmart_SM00036,HMMPfam_CNH" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00036,HMMPfam_CNH" - no_errors MAP4K3 8491 genome.wustl.edu 36 2 39368821 39368821 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 39368821 39368821 T G SNP MAP4K3 NM_003618 human genbank 54_36p -1 reviewed missense c.1419 p.Q473H 0.98 superfamily_Protein kinase-like (PK-like) "HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors EML4 27436 genome.wustl.edu 36 2 42375786 42375786 + Silent SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 42375786 42375786 T A SNP EML4 NM_019063 human genbank 54_36p 1 validated silent c.1236 p.V412 0.99 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "HMMPfam_HELP,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_EF_HAND_1,PatternScan_TRYPSIN_SER,PatternScan_WD_REPEATS_1,PatternScan_HIS_ACID_PHOSPHAT_2" - no_errors EML4 27436 genome.wustl.edu 36 2 42409532 42409532 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 42409532 42409532 G C SNP EML4 NM_019063 human genbank 54_36p 1 validated missense c.2344 p.V782L 1 NULL "PatternScan_HIS_ACID_PHOSPHAT_2,HMMSmart_SM00320,HMMPfam_HELP,superfamily_WD40 repeat-like,PatternScan_TRYPSIN_SER,PatternScan_EF_HAND_1,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors MTA3 57504 genome.wustl.edu 36 2 42789748 42789748 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 42789748 42789748 G T SNP MTA3 NM_020744 human genbank 54_36p 1 provisional missense c.1533 p.M511I 1 NULL "HMMPfam_BAH,HMMSmart_BAH,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain_like,HMMSmart_ZnF_GATA,HMMPfam_GATA" - no_errors HAAO 23498 genome.wustl.edu 36 2 42848133 42848133 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 42848133 42848133 G A SNP HAAO NM_012205 human genbank 54_36p -1 reviewed missense c.809 p.S270F 0.26 superfamily_RmlC-like cupins "HMMPfam_3-HAO,superfamily_RmlC-like cupins" - no_errors THADA 63892 genome.wustl.edu 36 2 43373807 43373807 + Silent SNP T T A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 43373807 43373807 T A SNP THADA NM_001083953 human genbank 54_36p -1 validated silent c.4488 p.G1496 0.19 PatternScan_FORMATE_NITRITE_TP_1 "superfamily_ARM repeat,HMMPfam_DUF2428,PatternScan_FORMATE_NITRITE_TP_1" - no_errors DYNC2LI1 51626 genome.wustl.edu 36 2 43864168 43864168 + Silent SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 43864168 43864168 G A SNP DYNC2LI1 NM_016008 human genbank 54_36p 1 validated silent c.132 p.K44 1 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors KRT18P26 729634 genome.wustl.edu 36 2 44366890 44366890 + RNA SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 44366890 44366890 C G SNP KRT18P26 XR_039730 human genbank 54_36p -1 model rna NULL NULL 0.02 - - - pseudogene PREPL 9581 genome.wustl.edu 36 2 44402469 44402469 + Splice_Site SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 44402469 44402469 C A SNP PREPL NM_006036 human genbank 54_36p -1 validated splice_site c.2094+1 e13+1 1 - - - no_errors PRKCE 5581 genome.wustl.edu 36 2 46059636 46059636 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 46059636 46059636 A C SNP PRKCE NM_005400 human genbank 54_36p 1 reviewed missense c.590 p.Q197P 1 "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" ############################################################################################################################################################################################################################################################### - no_errors SOCS5 9655 genome.wustl.edu 36 2 46840459 46840459 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 46840459 46840459 G A SNP SOCS5 NM_014011 human genbank 54_36p 1 reviewed missense c.1286 p.R429Q 1 "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00253,HMMPfam_SOCS_box" - no_errors MSH2 4436 genome.wustl.edu 36 2 47510535 47510535 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 47510535 47510535 G A SNP MSH2 NM_000251 human genbank 54_36p 1 reviewed silent c.1227 p.Q409 1 "HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd" "HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" - no_errors MSH6 2956 genome.wustl.edu 36 2 47881758 47881758 + Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 47881758 47881758 C G SNP MSH6 NM_000179 human genbank 54_36p 1 reviewed nonsense c.3132 p.Y1044* 1 "superfamily_DNA repair protein MutS domain III,HMMSmart_SM00533" ############################################################################################################################################################################################################################################################### - no_errors KLRAQ1 129285 genome.wustl.edu 36 2 48540782 48540782 + Silent SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 48540782 48540782 T G SNP KLRAQ1 NM_152994 human genbank 54_36p 1 validated silent c.585 p.L195 0.99 NULL "HMMPfam_KLRAQ,HMMPfam_TTKRSYEDQ" - no_errors STON1-GTF2A1L 286749 genome.wustl.edu 36 2 48727208 48727208 + Silent SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 48727208 48727208 A G SNP STON1-GTF2A1L NM_172311 human genbank 54_36p 1 reviewed silent c.2613 p.V871 0.02 HMMPfam_TFIIA "superfamily_AP50,HMMPfam_Adap_comp_sub,superfamily_TFIIA_helical,HMMPfam_TFIIA,superfamily_TFIIA_betabarrel" - no_errors LHCGR 3973 genome.wustl.edu 36 2 48768857 48768857 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2 48768857 48768857 A G SNP LHCGR NM_000233 human genbank 54_36p -1 reviewed missense c.1583 p.I528T 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LHCGR 3973 genome.wustl.edu 36 2 48769227 48769227 + Splice_Site SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 48769227 48769227 C T SNP LHCGR ENST00000403273 human ensembl 54_36p -1 known splice_site c.948-1 e11-1 1 - - - no_errors FSHR 2492 genome.wustl.edu 36 2 49043568 49043568 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 49043568 49043568 G T SNP FSHR NM_000145 human genbank 54_36p -1 reviewed missense c.1896 p.N632K 0.97 superfamily_Family A G protein-coupled receptor-like "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NRXN1 9378 genome.wustl.edu 36 2 50002704 50002704 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 50002704 50002704 C A SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.4316 p.R1439L 1 HMMSmart_SM00294 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_SM00294" - no_errors NRXN1 9378 genome.wustl.edu 36 2 50172113 50172113 + Silent SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 50172113 50172113 C T SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed silent c.3570 p.K1190 0.99 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin" - no_errors NRXN1 9378 genome.wustl.edu 36 2 50317435 50317435 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 50317435 50317435 T A SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.3542 p.H1181L 1 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin" - no_errors NRXN1 9378 genome.wustl.edu 36 2 50578090 50578090 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 50578090 50578090 G T SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.2764 p.Q922K 1 superfamily_Concanavalin A-like lectins/glucanases "PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin" - no_errors ERLEC1 27248 genome.wustl.edu 36 2 53882353 53882353 + Splice_Site SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 53882353 53882353 G A SNP C2orf30 NM_015701 human genbank 54_36p 1 validated splice_site c.750-1 e8-1 1 - - - no_errors GPR75 10936 genome.wustl.edu 36 2 53934071 53934071 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 53934071 53934071 C A SNP GPR75 NM_006794 human genbank 54_36p -1 validated missense c.1327 p.D443Y 1 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors PSME4 23198 genome.wustl.edu 36 2 53975704 53975704 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 53975704 53975704 A C SNP PSME4 NM_014614 human genbank 54_36p -1 validated missense c.3514 p.Y1172D 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors RPL23AP32 56969 genome.wustl.edu 36 2 54610021 54610021 + RNA SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 54610021 54610021 C T SNP RPL23AP32 NR_002229 human genbank 54_36p 1 inferred rna NULL NULL 1 - - - pseudogene SPTBN1 6711 genome.wustl.edu 36 2 54711572 54711572 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 54711572 54711572 C T SNP SPTBN1 NM_003128 human genbank 54_36p 1 reviewed missense c.2884 p.L962F 1 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors RTN4 57142 genome.wustl.edu 36 2 55068340 55068340 + Splice_Site SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 55068340 55068340 T C SNP RTN4 NM_020532 human genbank 54_36p -1 reviewed splice_site c.3014-2 e4-2 1 - - - no_errors C2orf63 130162 genome.wustl.edu 36 2 55289342 55289342 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 55289342 55289342 C G SNP C2orf63 NM_152385 human genbank 54_36p -1 validated missense c.823 p.G275R 0 superfamily_ARM repeat superfamily_ARM repeat - no_errors CCDC88A 55704 genome.wustl.edu 36 2 55389610 55389610 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 55389610 55389610 T C SNP CCDC88A NM_018084 human genbank 54_36p -1 validated missense c.4226 p.D1409G 1 NULL superfamily_Prefoldin - no_errors CCDC88A 55704 genome.wustl.edu 36 2 55443009 55443009 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 55443009 55443009 A G SNP CCDC88A NM_018084 human genbank 54_36p -1 validated missense c.566 p.L189P 1 NULL superfamily_Prefoldin - no_errors EFEMP1 2202 genome.wustl.edu 36 2 55998858 55998858 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 55998858 55998858 C A SNP EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed missense c.130 p.D44Y 1 "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179" "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors CCDC85A 114800 genome.wustl.edu 36 2 56273230 56273230 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 56273230 56273230 C T SNP CCDC85A NM_001080433 human genbank 54_36p 1 provisional missense c.391 p.R131C 1 HMMPfam_DUF2216 HMMPfam_DUF2216 - no_errors REL 5966 genome.wustl.edu 36 2 60972423 60972423 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 60972423 60972423 G C SNP REL NM_002908 human genbank 54_36p 1 validated missense c.112 p.E38Q 1 "superfamily_P53_like_DNA_bnd,HMMPfam_RHD" "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" - no_errors USP34 9736 genome.wustl.edu 36 2 61329262 61329262 + Silent SNP A A G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 61329262 61329262 A G SNP USP34 NM_014709 human genbank 54_36p -1 validated silent c.6282 p.N2094 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP34 9736 genome.wustl.edu 36 2 61375885 61375885 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 61375885 61375885 G A SNP USP34 NM_014709 human genbank 54_36p -1 validated silent c.4299 p.S1433 1 NULL "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors XPO1 7514 genome.wustl.edu 36 2 61577643 61577643 + Silent SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 61577643 61577643 G A SNP XPO1 NM_003400 human genbank 54_36p -1 reviewed silent c.763 p.L255 1 "superfamily_ARM-type_fold,HMMPfam_Xpo1" "superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_Xpo1,HMMPfam_CRM1_C" - no_errors CCT4 10575 genome.wustl.edu 36 2 61953162 61953162 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 61953162 61953162 C T SNP CCT4 NM_006430 human genbank 54_36p -1 validated silent c.1191 p.V397 1 "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849" "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029" - no_errors B3GNT2 10678 genome.wustl.edu 36 2 62303370 62303370 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 62303370 62303370 G A SNP B3GNT2 NM_006577 human genbank 54_36p 1 reviewed missense c.511 p.A171T 0 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors EHBP1 23301 genome.wustl.edu 36 2 62955168 62955168 + Silent SNP T T C novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 62955168 62955168 T C SNP EHBP1 NM_015252 human genbank 54_36p 1 validated silent c.1287 p.P429 0.98 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors LOC730187 730187 genome.wustl.edu 36 2 64746638 64746638 + RNA SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 64746638 64746638 G A SNP LOC730187 XR_042354 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC730187 730187 genome.wustl.edu 36 2 64746640 64746640 + RNA SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 64746640 64746640 C T SNP LOC730187 XR_042354 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC729317 729317 genome.wustl.edu 36 2 65286552 65286552 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 65286552 65286552 T A SNP LOC729317 XM_001133585 human genbank 54_36p 1 model missense c.806 p.L269H 0.86 HMMPfam_Porin_3 "HMMPfam_Porin_3,PatternScan_EUKARYOTIC_PORIN" - no_errors ETAA1 54465 genome.wustl.edu 36 2 67485182 67485182 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 67485182 67485182 C G SNP ETAA1 NM_019002 human genbank 54_36p 1 validated missense c.1864 p.Q622E 0.97 NULL NULL - no_errors ETAA1 54465 genome.wustl.edu 36 2 67490599 67490599 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 67490599 67490599 A T SNP ETAA1 NM_019002 human genbank 54_36p 1 validated missense c.2706 p.R902S 1 NULL NULL - no_errors PROKR1 10887 genome.wustl.edu 36 2 68736025 68736025 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 68736025 68736025 T G SNP PROKR1 NM_138964 human genbank 54_36p 1 validated missense c.995 p.M332R 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ARHGAP25 9938 genome.wustl.edu 36 2 68903017 68903017 + Silent SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 68903017 68903017 G T SNP ARHGAP25 NM_001007231 human genbank 54_36p 1 validated silent c.1239 p.P413 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors BMP10 27302 genome.wustl.edu 36 2 68947020 68947020 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 68947020 68947020 T A SNP BMP10 NM_014482 human genbank 54_36p -1 reviewed missense c.522 p.K174N 0 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors ANTXR1 84168 genome.wustl.edu 36 2 69158056 69158056 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 69158056 69158056 G A SNP ANTXR1 NM_032208 human genbank 54_36p 1 reviewed missense c.574 p.A192T 1 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Anth_Ig,HMMPfam_Ant_C" - no_errors GMCL1 64395 genome.wustl.edu 36 2 69918248 69918248 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 69918248 69918248 A G SNP GMCL1 NM_178439 human genbank 54_36p 1 provisional missense c.326 p.D109G 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors ASPRV1 151516 genome.wustl.edu 36 2 70042190 70042190 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T - T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 70042190 70042190 T - DEL ASPRV1 NM_152792 human genbank 54_36p -1 validated frame_shift_del c.135 p.V46fs 0 NULL "superfamily_Pept_Aspartic,PatternScan_ASP_PROTEASE" "(deletion:cds_exon[70041293,70042324])" no_errors RNF144A 9781 genome.wustl.edu 36 2 7054521 7054521 + Silent SNP A A C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 7054521 7054521 A C SNP RNF144A NM_014746 human genbank 54_36p 1 reviewed silent c.13 p.R5 1 NULL "HMMSmart_RING,HMMPfam_IBR,HMMSmart_IBR,superfamily_SSF57850,PatternScan_ZF_RING_1" - no_errors CLEC4F 165530 genome.wustl.edu 36 2 70897329 70897329 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 70897329 70897329 G C SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.692 p.A231G 0.01 NULL "PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold" - no_errors CLEC4F 165530 genome.wustl.edu 36 2 70897742 70897742 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 70897742 70897742 G T SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.279 p.H93Q 0 NULL "superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1" - no_errors MCEE 84693 genome.wustl.edu 36 2 71204994 71204994 + Silent SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 71204994 71204994 C T SNP MCEE NM_032601 human genbank 54_36p -1 reviewed silent c.228 p.A76 0.05 "superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase" "superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase" - no_errors MPHOSPH10 10199 genome.wustl.edu 36 2 71230613 71230613 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 71230613 71230613 A G SNP MPHOSPH10 NM_005791 human genbank 54_36p 1 reviewed missense c.2006 p.K669R 1 NULL HMMPfam_Mpp10 - no_errors ZNF638 27332 genome.wustl.edu 36 2 71430641 71430641 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 71430641 71430641 G A SNP ZNF638 NM_001014972 human genbank 54_36p 1 reviewed missense c.1049 p.R350Q 0.69 NULL "HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors DYSF 8291 genome.wustl.edu 36 2 71648647 71648647 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 71648647 71648647 G T SNP DYSF NM_003494 human genbank 54_36p 1 reviewed missense c.2570 p.W857L 1 HMMPfam_FerB "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694" - no_errors ALMS1 7840 genome.wustl.edu 36 2 73570466 73570466 + Silent SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 73570466 73570466 C A SNP ALMS1 NM_015120 human genbank 54_36p 1 reviewed silent c.7869 p.A2623 0.09 NULL NULL - no_errors ALMS1P 200420 genome.wustl.edu 36 2 73754566 73754566 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 73754566 73754566 C T SNP ALMS1P ENST00000295136 human ensembl 54_36p 1 known missense c.374 p.A125V 0.13 NULL NULL - no_start_codon TPRKB 51002 genome.wustl.edu 36 2 73815115 73815115 + Silent SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 73815115 73815115 T C SNP TPRKB NM_016058 human genbank 54_36p -1 validated silent c.90 p.R30 0.99 NULL HMMPfam_CGI-121 - no_errors C2orf78 388960 genome.wustl.edu 36 2 73896646 73896646 + Silent SNP A A G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 73896646 73896646 A G SNP C2orf78 NM_001080474 human genbank 54_36p 1 predicted silent c.1788 p.V596 0.13 NULL NULL - no_errors SLC4A5 57835 genome.wustl.edu 36 2 74344848 74344848 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 74344848 74344848 G A SNP SLC4A5 NM_021196 human genbank 54_36p -1 reviewed missense c.649 p.R217C 1 "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto" "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC4A5 57835 genome.wustl.edu 36 2 74385307 74385307 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 74385307 74385307 G T SNP SLC4A5 NM_021196 human genbank 54_36p -1 reviewed missense c.88 p.P30T 0.19 NULL "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein" - no_errors DCTN1 1639 genome.wustl.edu 36 2 74448668 74448668 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 74448668 74448668 G C SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed missense c.1953 p.S651R 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat" - no_errors DQX1 165545 genome.wustl.edu 36 2 74600293 74600293 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 74600293 74600293 T A SNP DQX1 NM_133637 human genbank 54_36p -1 validated missense c.1350 p.E450D 0.99 HMMPfam_DUF1605 "superfamily_SSF52540,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DQX1 165545 genome.wustl.edu 36 2 74604673 74604673 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 74604673 74604673 G A SNP DQX1 NM_133637 human genbank 54_36p -1 validated missense c.347 p.P116L 0 NULL "HMMPfam_HA2,HMMPfam_DUF1605,superfamily_SSF52540" - no_errors HK2 3099 genome.wustl.edu 36 2 74935084 74935084 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 74935084 74935084 G T SNP HK2 NM_000189 human genbank 54_36p 1 reviewed missense c.220 p.G74W 1 "HMMPfam_Hexokinase_1,superfamily_SSF53067" "HMMPfam_Hexokinase_1,superfamily_SSF53067,PatternScan_HEXOKINASES,HMMPfam_Hexokinase_2" - no_errors C2orf3 6936 genome.wustl.edu 36 2 75781856 75781856 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 75781856 75781856 G A SNP C2orf3 NM_003203 human genbank 54_36p -1 validated nonsense c.685 p.Q229* 1 NULL HMMPfam_GCFC - no_errors REG1P 5969 genome.wustl.edu 36 2 79216693 79216693 + RNA SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 79216693 79216693 C A SNP REG1P NR_002714 human genbank 54_36p -1 provisional rna NULL NULL 0.01 - - - pseudogene LRRTM1 347730 genome.wustl.edu 36 2 80383130 80383130 + Silent SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 80383130 80383130 C A SNP LRRTM1 NM_178839 human genbank 54_36p -1 validated silent c.1326 p.V442 1 NULL "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors C2orf89 129293 genome.wustl.edu 36 2 84951253 84951253 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 84951253 84951253 G T SNP LOC129293 NM_001080824 human genbank 54_36p -1 predicted missense c.276 p.D92E 1 NULL NULL - no_errors KCMF1 56888 genome.wustl.edu 36 2 85126817 85126817 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 85126817 85126817 C T SNP KCMF1 NM_020122 human genbank 54_36p 1 validated missense c.506 p.S169L 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" - no_errors GGCX 2677 genome.wustl.edu 36 2 85639141 85639154 + Frame_Shift_Del DEL TCCATGATGTCTTG TCCATGATGTCTTG - novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 TCCATGATGTCTTG TCCATGATGTCTTG TCCATGATGTCTTG - TCCATGATGTCTTG TCCATGATGTCTTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 85639141 85639154 TCCATGATGTCTTG - DEL GGCX NM_000821 human genbank 54_36p -1 reviewed frame_shift_del c.472_459 p.D153fs 1.000:1.000:1.000:1.000:0.987:0.998:0.984:0.965:1.000:1.000:1.000:1.000:1.000:1.000 "HMMSmart_HTTM,HMMPfam_VKG_Carbox" "HMMSmart_HTTM,HMMPfam_VKG_Carbox,superfamily_RmlC_like_cupin" "(deletion:cds_exon[85639074,85639239])" no_errors SFTPB 6439 genome.wustl.edu 36 2 85746307 85746307 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 85746307 85746307 A C SNP SFTPB NM_000542 human genbank 54_36p -1 validated missense c.515 p.L172R 0.18 NULL "HMMPfam_SapA,HMMSmart_SAPA,superfamily_Saposin_like,HMMPfam_SapB_1,HMMSmart_SapB,HMMPfam_SapB_2" - no_errors KDM3A 55818 genome.wustl.edu 36 2 86562679 86562679 + Silent SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 86562679 86562679 C G SNP JMJD1A NM_018433 human genbank 54_36p 1 reviewed silent c.2628 p.P876 1 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors RMND5A 64795 genome.wustl.edu 36 2 86845685 86845685 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 86845685 86845685 G C SNP RMND5A NM_022780 human genbank 54_36p 1 validated missense c.546 p.M182I 1 HMMSmart_SM00668 "HMMSmart_SM00667,HMMSmart_SM00668,HMMSmart_SM00757,superfamily_RING/U-box" - no_errors KRCC1 51315 genome.wustl.edu 36 2 88108971 88108971 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 88108971 88108971 T C SNP KRCC1 NM_016618 human genbank 54_36p -1 provisional missense c.227 p.N76S 0 NULL NULL - no_errors SMYD1 150572 genome.wustl.edu 36 2 88164998 88164998 + Silent SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 88164998 88164998 C G SNP SMYD1 NM_198274 human genbank 54_36p 1 provisional silent c.186 p.L62 1 "superfamily_SSF82199,HMMSmart_SET,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" "superfamily_SSF82199,HMMSmart_SET,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_SET" - no_errors SMYD1 150572 genome.wustl.edu 36 2 88168501 88168501 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 88168501 88168501 C T SNP SMYD1 NM_198274 human genbank 54_36p 1 provisional missense c.320 p.A107V 0.97 "HMMSmart_SET,superfamily_SSF82199" "HMMPfam_SET,HMMSmart_SET,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,superfamily_SSF82199" - no_errors THNSL2 55258 genome.wustl.edu 36 2 88266539 88266539 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 88266539 88266539 C A SNP THNSL2 ENST00000377254 human ensembl 54_36p 1 known missense c.1085 p.P362Q 0.98 HMMPfam_PALP "superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes,HMMPfam_PALP" - no_errors KIDINS220 57498 genome.wustl.edu 36 2 8843568 8843568 + Silent SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 8843568 8843568 G T SNP KIDINS220 NM_020738 human genbank 54_36p -1 validated silent c.1983 p.V661 1 HMMPfam_KAP_NTPase "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_KAP_NTPase,superfamily_SAM/Pointed domain" - no_errors KIDINS220 57498 genome.wustl.edu 36 2 8843914 8843914 + Silent SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 8843914 8843914 T C SNP KIDINS220 NM_020738 human genbank 54_36p -1 validated silent c.1812 p.R604 0.98 HMMPfam_KAP_NTPase "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_KAP_NTPase" - no_errors RPIA 22934 genome.wustl.edu 36 2 88809936 88809936 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 88809936 88809936 G A SNP RPIA NM_144563 human genbank 54_36p 1 validated missense c.428 p.G143D 1 "superfamily_SSF100950,HMMPfam_Rib_5-P_isom_A" "superfamily_SSF100950,HMMPfam_Rib_5-P_isom_A,superfamily_SSF75445" - no_errors MRPS5 64969 genome.wustl.edu 36 2 95116901 95116901 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 95116901 95116901 G A SNP MRPS5 NM_031902 human genbank 54_36p -1 reviewed silent c.1221 p.D407 1 NULL "superfamily_dsRNA-binding domain-like,HMMPfam_Ribosomal_S5,PatternScan_RIBOSOMAL_S5,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_Ribosomal_S5_C" - no_errors PROM2 150696 genome.wustl.edu 36 2 95304222 95304222 + Silent SNP T T G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 95304222 95304222 T G SNP PROM2 NM_144707 human genbank 54_36p 1 provisional silent c.162 p.V54 0 HMMPfam_Prominin "HMMPfam_Prominin,PatternScan_PA2_HIS" - no_errors TRIM43 129868 genome.wustl.edu 36 2 95623587 95623587 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 95623587 95623587 G T SNP TRIM43 NM_138800 human genbank 54_36p 1 provisional missense c.89 p.C30F 0.92 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_SPRY" - no_errors TRIM43 129868 genome.wustl.edu 36 2 95625790 95625790 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 95625790 95625790 G C SNP TRIM43 NM_138800 human genbank 54_36p 1 provisional missense c.621 p.E207D 0 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors ADRA2B 151 genome.wustl.edu 36 2 96145015 96145015 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 96145015 96145015 G A SNP ADRA2B NM_000682 human genbank 54_36p -1 reviewed missense c.601 p.R201C 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ADRA2B 151 genome.wustl.edu 36 2 96145154 96145154 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 96145154 96145154 C A SNP ADRA2B NM_000682 human genbank 54_36p -1 reviewed missense c.462 p.Q154H 0.19 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors SNRNP200 23020 genome.wustl.edu 36 2 96316472 96316472 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 96316472 96316472 T C SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.3638 p.K1213R 1 "HMMSmart_SM00611,HMMPfam_Sec63,superfamily_P-loop containing nucleoside triphosphate hydrolases" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMSmart_SM00611,HMMPfam_Sec63" - no_errors SNRNP200 23020 genome.wustl.edu 36 2 96332777 96332777 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 96332777 96332777 C G SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.228 p.E76D 1 NULL "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00611,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CNNM4 26504 genome.wustl.edu 36 2 96791179 96791179 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 96791179 96791179 G T SNP CNNM4 NM_020184 human genbank 54_36p 1 validated missense c.716 p.G239V 1 HMMPfam_DUF21 "HMMPfam_DUF21,HMMPfam_CBS,HMMSmart_cNMP" - no_errors CNNM3 26505 genome.wustl.edu 36 2 96854663 96854663 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 96854663 96854663 A G SNP CNNM3 NM_017623 human genbank 54_36p 1 validated missense c.1367 p.Y456C 1 NULL "HMMPfam_DUF21,HMMPfam_CBS" - no_errors ENSG00000144188 0 genome.wustl.edu 36 2 97055666 97055666 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2 97055666 97055666 A T SNP ENSG00000144188 ENST00000272598 human ensembl 54_36p -1 known missense c.1111 p.F371I 0 HMMPfam_SPRY "PatternScan_ZF_RING_1,superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_SPRY" - no_errors TMEM131 23505 genome.wustl.edu 36 2 97758903 97758903 + Silent SNP T T C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 97758903 97758903 T C SNP TMEM131 NM_015348 human genbank 54_36p -1 validated silent c.4155 p.K1385 0.96 NULL NULL - no_errors TMEM131 23505 genome.wustl.edu 36 2 97797035 97797035 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 97797035 97797035 A G SNP TMEM131 NM_015348 human genbank 54_36p -1 validated missense c.1448 p.V483A 1 NULL NULL - no_errors VWA3B 200403 genome.wustl.edu 36 2 98170896 98170896 + Silent SNP A A C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 98170896 98170896 A C SNP VWA3B NM_144992 human genbank 54_36p 1 provisional silent c.1338 p.A446 1 NULL "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA" - no_errors VWA3B 200403 genome.wustl.edu 36 2 98233285 98233285 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 98233285 98233285 A G SNP VWA3B NM_144992 human genbank 54_36p 1 provisional missense c.2746 p.N916D 0.95 NULL "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" - no_errors MRPL30 51263 genome.wustl.edu 36 2 99178516 99178516 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 99178516 99178516 G T SNP MRPL30 NM_145212 human genbank 54_36p 1 reviewed missense c.402 p.M134I 1 NULL superfamily_Ribosomal protein L30p/L7e - no_errors REV1 51455 genome.wustl.edu 36 2 99421715 99421715 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 99421715 99421715 C T SNP REV1 NM_016316 human genbank 54_36p -1 reviewed silent c.993 p.T331 0.05 NULL "HMMPfam_BRCT,superfamily_BRCT domain,HMMSmart_SM00292,superfamily_DNA/RNA polymerases,HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain" - no_errors AFF3 3899 genome.wustl.edu 36 2 99541778 99541778 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 99541778 99541778 G A SNP AFF3 NM_001025108 human genbank 54_36p -1 reviewed silent c.3351 p.D1117 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors AFF3 3899 genome.wustl.edu 36 2 99541780 99541780 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 99541780 99541780 C G SNP AFF3 NM_001025108 human genbank 54_36p -1 reviewed missense c.3349 p.D1117H 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors TAF1B 9014 genome.wustl.edu 36 2 9991399 9991399 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 9991399 9991399 T A SNP TAF1B NM_005680 human genbank 54_36p 1 reviewed missense c.1602 p.N534K 1 NULL NULL - no_errors C20orf46 55321 genome.wustl.edu 36 20 1110098 1110098 + Silent SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 1110098 1110098 G T SNP C20orf46 NM_018354 human genbank 54_36p -1 predicted silent c.165 p.T55 0.29 NULL NULL - no_errors BTBD3 22903 genome.wustl.edu 36 20 11851398 11851398 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 11851398 11851398 C G SNP BTBD3 NM_014962 human genbank 54_36p 1 validated missense c.653 p.T218S 1 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_PHR" - no_errors BTBD3 22903 genome.wustl.edu 36 20 11852279 11852279 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 11852279 11852279 G A SNP BTBD3 NM_014962 human genbank 54_36p 1 validated missense c.1534 p.G512R 1 HMMPfam_PHR "HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_PHR,HMMPfam_BTB" - no_errors SDCBP2 27111 genome.wustl.edu 36 20 1249033 1249033 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 1249033 1249033 C G SNP SDCBP2 NM_080489 human genbank 54_36p -1 validated missense c.28 p.D10H 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors ESF1 51575 genome.wustl.edu 36 20 13701204 13701204 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 13701204 13701204 C T SNP ESF1 NM_016649 human genbank 54_36p -1 provisional missense c.1207 p.V403I 0.62 NULL NULL - no_errors SIRPB1 10326 genome.wustl.edu 36 20 1499592 1499592 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 1499592 1499592 G A SNP SIRPB1 NM_006065 human genbank 54_36p -1 reviewed missense c.943 p.L315F 0.44 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C1-set,HMMSmart_SM00407" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C1-set,HMMSmart_SM00407" - no_errors MACROD2 140733 genome.wustl.edu 36 20 15791439 15791439 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 15791439 15791439 A C SNP MACROD2 NM_080676 human genbank 54_36p 1 validated missense c.695 p.Y232S 1 superfamily_SSF52949 "superfamily_SSF52949,HMMSmart_A1pp,HMMPfam_Macro" - no_errors OTOR 56914 genome.wustl.edu 36 20 16677556 16677556 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 16677556 16677556 G A SNP OTOR NM_020157 human genbank 54_36p 1 reviewed missense c.160 p.D54N 1 "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" - no_errors RRBP1 6238 genome.wustl.edu 36 20 17550521 17550521 + Silent SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 17550521 17550521 T C SNP RRBP1 NM_001042576 human genbank 54_36p -1 reviewed silent c.1920 p.E640 0 NULL HMMPfam_Rib_recp_KP_reg - no_errors RRBP1 6238 genome.wustl.edu 36 20 17587676 17587676 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 17587676 17587676 C T SNP RRBP1 ENST00000246043 human ensembl 54_36p -1 known missense c.1477 p.E493K 0 NULL HMMPfam_Rib_recp_KP_reg - no_errors CSRP2BP 57325 genome.wustl.edu 36 20 18090728 18090728 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 18090728 18090728 G C SNP CSRP2BP NM_020536 human genbank 54_36p 1 reviewed missense c.947 p.S316T 1 NULL "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" - no_errors SEC23B 10483 genome.wustl.edu 36 20 18444360 18444360 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 18444360 18444360 A C SNP SEC23B NM_006363 human genbank 54_36p 1 reviewed missense c.346 p.T116P 1 "superfamily_SSF81995,superfamily_Znf_Sec23_Sec24" "superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin" - no_errors DTD1 92675 genome.wustl.edu 36 20 18672892 18672892 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 18672892 18672892 C G SNP DTD1 NM_080820 human genbank 54_36p 1 reviewed missense c.626 p.P209R 1 NULL "superfamily_DTD-like (Pfam 02580),HMMPfam_Tyr_Deacylase" - no_errors PDYN 5173 genome.wustl.edu 36 20 1909196 1909196 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 1909196 1909196 G A SNP PDYN NM_024411 human genbank 54_36p -1 reviewed missense c.538 p.R180C 1 NULL "HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR" - no_errors CRNKL1 51340 genome.wustl.edu 36 20 19970259 19970259 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 19970259 19970259 C T SNP CRNKL1 NM_016652 human genbank 54_36p -1 reviewed missense c.1658 p.R553K 1 "superfamily_TPR-like,HMMPfam_HAT,HMMSmart_SM00386" "HMMPfam_HAT,HMMSmart_SM00386,superfamily_TPR-like" - no_errors C20orf26 26074 genome.wustl.edu 36 20 20217566 20217566 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 20 20217566 20217566 G A SNP C20orf26 NM_015585 human genbank 54_36p 1 predicted missense c.3110 p.G1037E 1 NULL "superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain" - no_errors RALGAPA2 57186 genome.wustl.edu 36 20 20533856 20533856 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 20533856 20533856 T A SNP C20orf74 NM_020343 human genbank 54_36p -1 validated missense c.2001 p.K667N 1 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" - no_errors FOXA2 3170 genome.wustl.edu 36 20 22511343 22511343 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 22511343 22511343 C A SNP FOXA2 NM_021784 human genbank 54_36p -1 reviewed missense c.519 p.Q173H 1 "HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head" "HMMPfam_Fork_head_N,HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2,HMMPfam_HNF_C" - no_errors TGM3 7053 genome.wustl.edu 36 20 2260705 2260705 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2260705 2260705 C G SNP TGM3 NM_003245 human genbank 54_36p 1 reviewed missense c.1391 p.T464R 0 NULL "HMMPfam_Transglut_N,superfamily_E set domains,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" - no_errors TGM3 7053 genome.wustl.edu 36 20 2268522 2268522 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2268522 2268522 G A SNP TGM3 NM_003245 human genbank 54_36p 1 reviewed missense c.1823 p.R608Q 0 "HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains" "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases" - no_errors NXT1 29107 genome.wustl.edu 36 20 23282730 23282730 + Missense_Mutation SNP G A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 20 23282730 23282730 G A SNP NXT1 NM_013248 human genbank 54_36p 1 reviewed missense c.52 p.E18K 1 "superfamily_SSF54427,HMMPfam_NTF2" "superfamily_SSF54427,HMMPfam_NTF2" - no_errors TGM6 343641 genome.wustl.edu 36 20 2328980 2328980 + Silent SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2328980 2328980 G T SNP TGM6 NM_198994 human genbank 54_36p 1 validated silent c.879 p.R293 0 "superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core" "HMMPfam_Transglut_N,superfamily_E set domains,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" - no_errors NAPB 10801 genome.wustl.edu 36 20 23308089 23308089 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 20 23308089 23308089 G T SNP NAPB NM_022080 human genbank 54_36p -1 validated missense c.779 p.T260N 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_NSF" - no_errors TGM6 343641 genome.wustl.edu 36 20 2332442 2332442 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20 2332442 2332442 A G SNP TGM6 NM_198994 human genbank 54_36p 1 validated missense c.1309 p.I437V 1 superfamily_Cysteine proteinases "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases" - no_errors TGM6 343641 genome.wustl.edu 36 20 2345927 2345927 + Silent SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2345927 2345927 C T SNP TGM6 NM_198994 human genbank 54_36p 1 validated silent c.1386 p.F462 0.06 superfamily_Cysteine proteinases "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases" - no_errors DEFB125 245938 genome.wustl.edu 36 20 24997 24997 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 24997 24997 C T SNP DEFB125 NM_153325 human genbank 54_36p 1 reviewed missense c.410 p.S137F 0 NULL NULL - no_errors VSX1 30813 genome.wustl.edu 36 20 25010081 25010081 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20 25010081 25010081 A G SNP VSX1 ENST00000398332 human ensembl 54_36p -1 known missense c.428 p.M143T 0 NULL NULL - no_errors GINS1 9837 genome.wustl.edu 36 20 25353913 25353913 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 25353913 25353913 G C SNP GINS1 NM_021067 human genbank 54_36p 1 validated missense c.397 p.G133R 1 HMMPfam_Psf1 HMMPfam_Psf1 - no_errors TMC2 117532 genome.wustl.edu 36 20 2540923 2540923 + Silent SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2540923 2540923 C A SNP TMC2 NM_080751 human genbank 54_36p 1 validated silent c.1680 p.P560 1 NULL HMMPfam_TMC - no_errors TMC2 117532 genome.wustl.edu 36 20 2541940 2541940 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2541940 2541940 G A SNP TMC2 NM_080751 human genbank 54_36p 1 validated missense c.1844 p.C615Y 1 HMMPfam_TMC HMMPfam_TMC - no_errors NINL 22981 genome.wustl.edu 36 20 25432690 25432690 + Silent SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 25432690 25432690 C A SNP NLP NM_025176 human genbank 54_36p -1 validated silent c.759 p.V253 1 "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors CPXM1 56265 genome.wustl.edu 36 20 2726850 2726850 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2726850 2726850 G A SNP CPXM1 NM_019609 human genbank 54_36p -1 reviewed missense c.538 p.H180Y 0.01 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C" ############################################################################################################################################################################################################################################################### - no_errors FAM113A 64773 genome.wustl.edu 36 20 2767116 2767116 + Silent SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2767116 2767116 G A SNP FAM113A NM_022760 human genbank 54_36p -1 predicted silent c.603 p.P201 1 superfamily_SGNH hydrolase superfamily_SGNH hydrolase - no_errors VPS16 64601 genome.wustl.edu 36 20 2795206 2795206 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 2795206 2795206 G A SNP VPS16 NM_022575 human genbank 54_36p 1 reviewed missense c.2506 p.A836T 1 NULL "HMMPfam_Vps16_N,HMMPfam_Vps16_C" - no_errors DEFB115 245929 genome.wustl.edu 36 20 29309134 29309134 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 29309134 29309134 C A SNP DEFB115 NM_001037730 human genbank 54_36p 1 provisional missense c.7 p.P3T 0.01 NULL NULL - no_errors DEFB118 117285 genome.wustl.edu 36 20 29424371 29424371 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 29424371 29424371 C T SNP DEFB118 NM_054112 human genbank 54_36p 1 provisional nonsense c.109 p.Q37* 0.01 NULL NULL - no_errors DEFB118 117285 genome.wustl.edu 36 20 29424617 29424617 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 29424617 29424617 G A SNP DEFB118 NM_054112 human genbank 54_36p 1 provisional missense c.355 p.V119I 0 NULL NULL - no_errors TPX2 22974 genome.wustl.edu 36 20 29821902 29821902 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 29821902 29821902 T C SNP TPX2 NM_012112 human genbank 54_36p 1 validated missense c.452 p.I151T 0 NULL "HMMPfam_Aurora-A_bind,HMMPfam_TPX2" - no_errors FOXS1 2307 genome.wustl.edu 36 20 29896449 29896449 + Silent SNP A A T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 29896449 29896449 A T SNP FOXS1 NM_004118 human genbank 54_36p -1 reviewed silent c.558 p.P186 0.98 NULL "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors XKR7 343702 genome.wustl.edu 36 20 30048672 30048672 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 30048672 30048672 C T SNP XKR7 NM_001011718 human genbank 54_36p 1 provisional silent c.1491 p.T497 0.63 NULL "HMMPfam_XK-related,HMMSmart_IQ" - no_errors C20orf160 140706 genome.wustl.edu 36 20 30074124 30074124 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 30074124 30074124 G T SNP C20orf160 NM_080625 human genbank 54_36p 1 validated missense c.934 p.D312Y 1 NULL NULL - no_errors HCK 3055 genome.wustl.edu 36 20 30145462 30145462 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 30145462 30145462 G A SNP HCK NM_002110 human genbank 54_36p 1 reviewed missense c.1228 p.E410K 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors PLAGL2 5326 genome.wustl.edu 36 20 30253404 30253404 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 30253404 30253404 G A SNP PLAGL2 NM_002657 human genbank 54_36p -1 reviewed missense c.239 p.A80V 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors KIF3B 9371 genome.wustl.edu 36 20 30368004 30368004 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 30368004 30368004 G C SNP KIF3B NM_004798 human genbank 54_36p 1 reviewed missense c.1520 p.R507T 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors BPIL3 128859 genome.wustl.edu 36 20 31086228 31086228 + Splice_Site SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20 31086228 31086228 A G SNP BPIL3 NM_174897 human genbank 54_36p 1 provisional splice_site c.303-2 e4-2 0.99 - - - no_errors C20orf185 359710 genome.wustl.edu 36 20 31110938 31110938 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 31110938 31110938 G A SNP C20orf185 NM_182658 human genbank 54_36p 1 provisional missense c.375 p.M125I 1 "superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP" "PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" - no_errors C20orf185 359710 genome.wustl.edu 36 20 31120375 31120375 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 31120375 31120375 G A SNP C20orf185 NM_182658 human genbank 54_36p 1 provisional missense c.1084 p.A362T 0.44 "HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom" "HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP" - no_errors C20orf185 359710 genome.wustl.edu 36 20 31123572 31123572 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 31123572 31123572 G A SNP C20orf185 NM_182658 human genbank 54_36p 1 provisional missense c.1262 p.G421E 0.46 "HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom" "HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP" - no_errors C20orf70 140683 genome.wustl.edu 36 20 31224419 31224419 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 31224419 31224419 G A SNP C20orf70 NM_080574 human genbank 54_36p 1 validated missense c.178 p.V60I 0 "HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom" "HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom" - no_errors ZNF341 84905 genome.wustl.edu 36 20 31818499 31818499 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 20 31818499 31818499 G C SNP ZNF341 NM_032819 human genbank 54_36p 1 validated missense c.1383 p.K461N 1 superfamily_SSF57667 "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CHMP4B 128866 genome.wustl.edu 36 20 31899954 31899954 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 31899954 31899954 C A SNP CHMP4B NM_176812 human genbank 54_36p 1 validated missense c.211 p.R71S 1 HMMPfam_Snf7 HMMPfam_Snf7 - no_errors NCOA6 23054 genome.wustl.edu 36 20 32792313 32792313 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 32792313 32792313 G T SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.5408 p.S1803Y 1 NULL NULL - no_errors NCOA6 23054 genome.wustl.edu 36 20 32793676 32793676 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 32793676 32793676 A C SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.4045 p.S1349A 0.98 NULL NULL - no_errors NCOA6 23054 genome.wustl.edu 36 20 32793754 32793754 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 32793754 32793754 G A SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.3967 p.R1323W 1 NULL NULL - no_errors GSS 2937 genome.wustl.edu 36 20 32997502 32997502 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 32997502 32997502 G C SNP GSS NM_000178 human genbank 54_36p -1 reviewed missense c.190 p.Q64E 1 "superfamily_SSF56059,HMMPfam_GSH_synth_ATP" "superfamily_SSF56059,HMMPfam_GSH_synth_ATP,HMMPfam_GSH_synthase,superfamily_PreATP-grasp-like" - no_errors FAM83C 128876 genome.wustl.edu 36 20 33337857 33337857 + Silent SNP C C G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 33337857 33337857 C G SNP FAM83C NM_178468 human genbank 54_36p -1 validated silent c.2139 p.L713 0.01 NULL "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors CEP250 11190 genome.wustl.edu 36 20 33555271 33555271 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 33555271 33555271 A G SNP CEP250 NM_007186 human genbank 54_36p 1 reviewed missense c.5660 p.E1887G 0.93 NULL superfamily_Prefoldin - no_errors CEP250 11190 genome.wustl.edu 36 20 33559424 33559424 + Silent SNP C C G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 33559424 33559424 C G SNP CEP250 NM_007186 human genbank 54_36p 1 reviewed silent c.6897 p.T2299 0.64 NULL superfamily_Prefoldin - no_errors RBM12 10137 genome.wustl.edu 36 20 33705476 33705476 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 33705476 33705476 T C SNP RBM12 NM_006047 human genbank 54_36p -1 reviewed missense c.1183 p.M395V 0.94 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors NFS1 9054 genome.wustl.edu 36 20 33732160 33732160 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 20 33732160 33732160 G A SNP NFS1 NM_021100 human genbank 54_36p -1 reviewed nonsense c.703 p.Q235* 1 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5,PatternScan_AA_TRANSFER_CLASS_5" - no_errors C20orf152 140894 genome.wustl.edu 36 20 34031855 34031855 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20 34031855 34031855 G T SNP C20orf152 NM_080834 human genbank 54_36p 1 predicted missense c.304 p.D102Y 0 superfamily_cNMP_binding "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1" - no_errors EPB41L1 2036 genome.wustl.edu 36 20 34225224 34225224 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 34225224 34225224 C T SNP EPB41L1 NM_012156 human genbank 54_36p 1 reviewed silent c.111 p.H37 1 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD" - no_errors DLGAP4 22839 genome.wustl.edu 36 20 34493861 34493861 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 34493861 34493861 G C SNP DLGAP4 NM_014902 human genbank 54_36p 1 reviewed missense c.327 p.E109D 1 NULL HMMPfam_GKAP - no_errors DLGAP4 22839 genome.wustl.edu 36 20 34494244 34494244 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20 34494244 34494244 G T SNP DLGAP4 NM_014902 human genbank 54_36p 1 reviewed missense c.710 p.S237I 0.98 NULL HMMPfam_GKAP - no_errors DLGAP4 22839 genome.wustl.edu 36 20 34561482 34561482 + Silent SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 34561482 34561482 G A SNP DLGAP4 NM_183006 human genbank 54_36p 1 reviewed silent c.471 p.E157 1 HMMPfam_GKAP HMMPfam_GKAP - no_errors DSN1 79980 genome.wustl.edu 36 20 34829827 34829827 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 34829827 34829827 C A SNP DSN1 NM_024918 human genbank 54_36p -1 reviewed nonsense c.388 p.E130* 0.99 HMMPfam_Mis12_component HMMPfam_Mis12_component - no_errors RBL1 5933 genome.wustl.edu 36 20 35094482 35094482 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 35094482 35094482 C G SNP RBL1 NM_002895 human genbank 54_36p -1 reviewed missense c.2382 p.K794N 1 "HMMPfam_RB_B,superfamily_Cyclin-like" "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385" - no_errors RPN2 6185 genome.wustl.edu 36 20 35295860 35295860 + Silent SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 35295860 35295860 C T SNP RPN2 NM_002951 human genbank 54_36p 1 reviewed silent c.1701 p.V567 1 HMMPfam_Ribophorin_II HMMPfam_Ribophorin_II - no_errors RPN2 6185 genome.wustl.edu 36 20 35295886 35295886 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 35295886 35295886 C T SNP RPN2 NM_002951 human genbank 54_36p 1 reviewed missense c.1727 p.T576M 1 HMMPfam_Ribophorin_II HMMPfam_Ribophorin_II - no_errors CTNNBL1 56259 genome.wustl.edu 36 20 35904173 35904173 + Silent SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 35904173 35904173 T C SNP CTNNBL1 NM_030877 human genbank 54_36p 1 reviewed silent c.1330 p.L444 0.97 superfamily_ARM repeat "HMMPfam_DUF1716,superfamily_ARM repeat" - no_errors TGM2 7052 genome.wustl.edu 36 20 36212776 36212776 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 36212776 36212776 G A SNP TGM2 NM_004613 human genbank 54_36p -1 reviewed silent c.531 p.N177 0 superfamily_Cysteine proteinases "superfamily_E set domains,HMMPfam_Transglut_N,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" - no_errors KIAA1755 85449 genome.wustl.edu 36 20 36274961 36274961 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 36274961 36274961 C G SNP KIAA1755 NM_001029864 human genbank 54_36p -1 predicted missense c.3500 p.S1167T 0 NULL superfamily_Spectrin repeat - no_errors KIAA1755 85449 genome.wustl.edu 36 20 36288975 36288975 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 36288975 36288975 C T SNP KIAA1755 NM_001029864 human genbank 54_36p -1 predicted missense c.2047 p.V683I 0.01 NULL superfamily_Spectrin repeat - no_errors KIAA1755 85449 genome.wustl.edu 36 20 36303062 36303062 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 36303062 36303062 G A SNP KIAA1755 NM_001029864 human genbank 54_36p -1 predicted silent c.885 p.G295 0 NULL superfamily_Spectrin repeat - no_errors BPI 671 genome.wustl.edu 36 20 36366093 36366093 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 36366093 36366093 C T SNP BPI NM_001725 human genbank 54_36p 1 reviewed silent c.66 p.V22 0.17 NULL "superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2" - no_errors BPI 671 genome.wustl.edu 36 20 36385777 36385777 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 36385777 36385777 T C SNP BPI NM_001725 human genbank 54_36p 1 reviewed missense c.860 p.L287P 0.82 "HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom" "HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP" - no_errors FAM83D 81610 genome.wustl.edu 36 20 37013649 37013649 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 37013649 37013649 G T SNP FAM83D NM_030919 human genbank 54_36p 1 validated missense c.920 p.G307V 1 "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease,PatternScan_AA_TRNA_LIGASE_I" - no_errors FAM83D 81610 genome.wustl.edu 36 20 37014247 37014247 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 37014247 37014247 G T SNP FAM83D NM_030919 human genbank 54_36p 1 validated missense c.1518 p.K506N 0.59 NULL "PatternScan_AA_TRNA_LIGASE_I,HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors CDC25B 994 genome.wustl.edu 36 20 3731558 3731558 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 3731558 3731558 C G SNP CDC25B NM_021873 human genbank 54_36p 1 reviewed missense c.1196 p.A399G 1 superfamily_Rhodanese/Cell cycle control phosphatase "HMMPfam_M-inducer_phosp,superfamily_Rhodanese/Cell cycle control phosphatase,HMMSmart_SM00450,HMMPfam_Rhodanese" - no_errors TOP1 7150 genome.wustl.edu 36 20 39139642 39139642 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 39139642 39139642 G T SNP TOP1 NM_003286 human genbank 54_36p 1 reviewed missense c.286 p.A96S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LPIN3 64900 genome.wustl.edu 36 20 39412355 39412355 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 20 39412355 39412355 G T SNP LPIN3 NM_022896 human genbank 54_36p 1 validated missense c.1006 p.D336Y 0.02 NULL "HMMPfam_Lipin_N,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors CHD6 84181 genome.wustl.edu 36 20 39507731 39507731 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 39507731 39507731 C T SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed missense c.3865 p.V1289M 1 NULL "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors PTPRT 11122 genome.wustl.edu 36 20 40147880 40147880 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 40147880 40147880 T C SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.3931 p.T1311A 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPRT 11122 genome.wustl.edu 36 20 40160598 40160598 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 40160598 40160598 C T SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed silent c.3780 p.K1260 1 "HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" ############################################################################################################################################################################################################################################################### - no_errors PTPRT 11122 genome.wustl.edu 36 20 40204018 40204018 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 40204018 40204018 G A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed silent c.2778 p.A926 1 "HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" ############################################################################################################################################################################################################################################################### - no_errors PTPRT 11122 genome.wustl.edu 36 20 40739976 40739976 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 40739976 40739976 C A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.1097 p.G366V 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors PTPRT 11122 genome.wustl.edu 36 20 40853289 40853289 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 40853289 40853289 G A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.446 p.A149V 1 "HMMPfam_MAM,HMMSmart_SM00137" ############################################################################################################################################################################################################################################################### - no_errors IFT52 51098 genome.wustl.edu 36 20 41698011 41698011 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 41698011 41698011 C G SNP IFT52 NM_016004 human genbank 54_36p 1 validated missense c.955 p.P319A 1 NULL HMMPfam_ABC_transp_aux - no_errors IFT52 51098 genome.wustl.edu 36 20 41704678 41704678 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 41704678 41704678 G T SNP IFT52 NM_016004 human genbank 54_36p 1 validated missense c.1266 p.Q422H 1 NULL HMMPfam_ABC_transp_aux - no_errors TOX2 84969 genome.wustl.edu 36 20 42126903 42126903 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 42126903 42126903 G A SNP TOX2 NM_001098797 human genbank 54_36p 1 validated missense c.952 p.V318I 1 superfamily_HMG-box "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors CSNK2A1 1457 genome.wustl.edu 36 20 426408 426408 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 426408 426408 A G SNP CSNK2A1 NM_001895 human genbank 54_36p -1 reviewed missense c.383 p.L128S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors RIMS4 140730 genome.wustl.edu 36 20 42818332 42818332 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 42818332 42818332 G A SNP RIMS4 NM_182970 human genbank 54_36p -1 validated silent c.667 p.L223 1 "superfamily_C2_CaLB,HMMSmart_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors RIMS4 140730 genome.wustl.edu 36 20 42818333 42818333 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 42818333 42818333 C G SNP RIMS4 NM_182970 human genbank 54_36p -1 validated missense c.666 p.E222D 1 "HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors RIMS4 140730 genome.wustl.edu 36 20 42833460 42833460 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 42833460 42833460 G A SNP RIMS4 NM_182970 human genbank 54_36p -1 validated missense c.106 p.R36W 1 NULL "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors WFDC10B 280664 genome.wustl.edu 36 20 43746983 43746983 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 43746983 43746983 A G SNP WFDC10B NM_172131 human genbank 54_36p -1 reviewed missense c.170 p.I57T 0 NULL NULL - no_errors ZSWIM3 140831 genome.wustl.edu 36 20 43938876 43938876 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 43938876 43938876 T A SNP ZSWIM3 NM_080752 human genbank 54_36p 1 validated missense c.272 p.L91Q 0.99 NULL "HMMPfam_MULE,HMMPfam_SWIM,HMMSmart_ZnF_PMZ" - no_errors CDH22 64405 genome.wustl.edu 36 20 44248970 44248970 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 44248970 44248970 C T SNP CDH22 NM_021248 human genbank 54_36p -1 reviewed missense c.1447 p.A483T 0.24 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors SLC35C2 51006 genome.wustl.edu 36 20 44417897 44417897 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 44417897 44417897 G A SNP SLC35C2 NM_015945 human genbank 54_36p -1 reviewed missense c.359 p.A120V 1 PatternScan_ADH_SHORT "PatternScan_ADH_SHORT,HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE" - no_errors SLC13A3 64849 genome.wustl.edu 36 20 44672535 44672535 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 44672535 44672535 C A SNP SLC13A3 NM_022829 human genbank 54_36p -1 reviewed missense c.498 p.K166N 0.88 HMMPfam_Na_sulph_symp HMMPfam_Na_sulph_symp - no_errors ZMYND8 23613 genome.wustl.edu 36 20 45324569 45324569 + Silent SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 45324569 45324569 G A SNP ZMYND8 NM_183047 human genbank 54_36p -1 reviewed silent c.1491 p.A497 0.99 NULL "superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" - no_errors NCOA3 8202 genome.wustl.edu 36 20 45696310 45696310 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 45696310 45696310 A T SNP NCOA3 NM_181659 human genbank 54_36p 1 reviewed missense c.1076 p.D359V 1 superfamily_PYP-like sensor domain (PAS domain) ############################################################################################################################################################################################################################################################### - no_errors NCOA3 8202 genome.wustl.edu 36 20 45711202 45711202 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 45711202 45711202 C G SNP NCOA3 NM_181659 human genbank 54_36p 1 reviewed missense c.3593 p.P1198R 0.49 NULL ############################################################################################################################################################################################################################################################### - no_errors RASSF2 9770 genome.wustl.edu 36 20 4714926 4714926 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 4714926 4714926 G C SNP RASSF2 NM_014737 human genbank 54_36p -1 reviewed missense c.862 p.Q288E 1 NULL "HMMSmart_RA,HMMPfam_RA" - no_errors STAU1 6780 genome.wustl.edu 36 20 47173074 47173074 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 47173074 47173074 C G SNP STAU1 NM_017453 human genbank 54_36p -1 reviewed missense c.928 p.E310Q 0.99 "superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" "superfamily_dsRNA-binding domain-like,HMMSmart_SM00358,HMMPfam_dsrm" - no_errors RASSF2 9770 genome.wustl.edu 36 20 4718300 4718300 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 4718300 4718300 C T SNP RASSF2 NM_014737 human genbank 54_36p -1 reviewed missense c.581 p.R194H 1 "HMMPfam_RA,HMMSmart_RA" "HMMPfam_RA,HMMSmart_RA" - no_errors STAU1 6780 genome.wustl.edu 36 20 47185799 47185799 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 47185799 47185799 C T SNP STAU1 NM_017453 human genbank 54_36p -1 reviewed missense c.587 p.R196Q 1 "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like" "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like" - no_errors RASSF2 9770 genome.wustl.edu 36 20 4724554 4724554 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 4724554 4724554 G T SNP RASSF2 NM_014737 human genbank 54_36p -1 reviewed missense c.194 p.P65H 1 NULL "HMMPfam_RA,HMMSmart_RA" - no_errors ZNFX1 57169 genome.wustl.edu 36 20 47299430 47299430 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 47299430 47299430 T C SNP ZNFX1 NM_021035 human genbank 54_36p -1 validated missense c.3538 p.R1180G 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_zf-NF-X1,HMMSmart_SM00438" - no_errors PTGIS 5740 genome.wustl.edu 36 20 47564276 47564276 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 47564276 47564276 C A SNP PTGIS NM_000961 human genbank 54_36p -1 reviewed missense c.919 p.A307S 0.98 "superfamily_Cytochrome_P450,HMMPfam_p450" "PatternScan_CYTOCHROME_P450,superfamily_Cytochrome_P450,HMMPfam_p450" - no_errors RNF114 55905 genome.wustl.edu 36 20 47991590 47991590 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 47991590 47991590 C T SNP RNF114 NM_018683 human genbank 54_36p 1 validated nonsense c.226 p.R76* 0.99 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors SLC23A2 9962 genome.wustl.edu 36 20 4831179 4831179 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 4831179 4831179 C G SNP SLC23A2 NM_005116 human genbank 54_36p -1 reviewed missense c.233 p.S78T 1 NULL "HMMPfam_Xan_ur_permease,PatternScan_XANTH_URACIL_PERMASE" - no_errors FAM65C 140876 genome.wustl.edu 36 20 48643093 48643093 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 48643093 48643093 G A SNP FAM65C NM_080829 human genbank 54_36p -1 predicted missense c.2248 p.P750S 0.05 NULL NULL - no_errors ADNP 23394 genome.wustl.edu 36 20 48942590 48942590 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 48942590 48942590 C T SNP ADNP NM_015339 human genbank 54_36p -1 reviewed missense c.2068 p.V690I 1 NULL "PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors MOCS3 27304 genome.wustl.edu 36 20 49008919 49008919 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 49008919 49008919 C A SNP MOCS3 NM_014484 human genbank 54_36p 1 reviewed missense c.133 p.P45T 0 NULL "superfamily_MoeB,HMMPfam_ThiF,HMMPfam_MoeZ_MoeB,superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD" - no_errors NFATC2 4773 genome.wustl.edu 36 20 49573866 49573866 + Silent SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 49573866 49573866 C T SNP NFATC2 NM_173091 human genbank 54_36p -1 reviewed silent c.321 p.S107 1 NULL "superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors ATP9A 10079 genome.wustl.edu 36 20 49726099 49726099 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 49726099 49726099 A T SNP ATP9A NM_006045 human genbank 54_36p -1 validated missense c.855 p.N285K 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP9A 10079 genome.wustl.edu 36 20 49744045 49744045 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 49744045 49744045 G A SNP ATP9A NM_006045 human genbank 54_36p -1 validated missense c.551 p.S184L 1 "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A" "HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors TSHZ2 128553 genome.wustl.edu 36 20 51305318 51305318 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 51305318 51305318 A C SNP TSHZ2 NM_173485 human genbank 54_36p 1 validated missense c.1914 p.E638D 0.28 NULL "PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX,HMMPfam_Homeobox,HMMPfam_zf-C2H2" - no_errors BCAS1 8537 genome.wustl.edu 36 20 52045883 52045883 + Silent SNP A A G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 52045883 52045883 A G SNP BCAS1 NM_003657 human genbank 54_36p -1 reviewed silent c.837 p.A279 0 NULL NULL - no_errors PROKR2 128674 genome.wustl.edu 36 20 5230949 5230949 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 5230949 5230949 G A SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.892 p.R298C 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CBLN4 140689 genome.wustl.edu 36 20 54007121 54007121 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 54007121 54007121 G T SNP CBLN4 NM_080617 human genbank 54_36p -1 reviewed missense c.505 p.L169I 1 "HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q" "HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q" - no_errors CBLN4 140689 genome.wustl.edu 36 20 54012421 54012421 + Missense_Mutation SNP C T T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 54012421 54012421 C T SNP CBLN4 NM_080617 human genbank 54_36p -1 reviewed missense c.214 p.A72T 1 "HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like" "HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like" - no_errors CBLN4 140689 genome.wustl.edu 36 20 54012484 54012484 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 54012484 54012484 C A SNP CBLN4 NM_080617 human genbank 54_36p -1 reviewed missense c.151 p.D51Y 1 NULL "HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like" - no_errors AURKA 6790 genome.wustl.edu 36 20 54381930 54381930 + Silent SNP T T C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 54381930 54381930 T C SNP AURKA NM_003600 human genbank 54_36p -1 reviewed silent c.795 p.G265 0.87 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CASS4 57091 genome.wustl.edu 36 20 54460399 54460399 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 54460399 54460399 A T SNP CASS4 NM_020356 human genbank 54_36p 1 validated missense c.760 p.S254C 0 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_Serine_rich" - no_errors ZBP1 81030 genome.wustl.edu 36 20 55624752 55624752 + Silent SNP A A C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20 55624752 55624752 A C SNP ZBP1 NM_030776 human genbank 54_36p -1 provisional silent c.213 p.T71 0 HMMSmart_SM00550 "HMMPfam_z-alpha,HMMSmart_SM00550,superfamily_Winged helix DNA-binding domain" - no_errors APCDD1L 164284 genome.wustl.edu 36 20 56479111 56479111 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 56479111 56479111 T C SNP APCDD1L NM_153360 human genbank 54_36p -1 provisional missense c.148 p.I50V 0.03 NULL NULL - no_errors GNAS 2778 genome.wustl.edu 36 20 56913889 56913889 + Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 56913889 56913889 C G SNP GNAS NM_001077488 human genbank 54_36p 1 reviewed nonsense c.492 p.Y164* 0.98 "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" - no_errors PHACTR3 116154 genome.wustl.edu 36 20 57751719 57751719 + Splice_Site SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 57751719 57751719 G A SNP PHACTR3 NM_080672 human genbank 54_36p 1 reviewed splice_site c.280+1 e2+1 1 - - - no_errors SYCP2 10388 genome.wustl.edu 36 20 57874784 57874784 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 57874784 57874784 T A SNP SYCP2 NM_014258 human genbank 54_36p -1 reviewed nonsense c.4279 p.K1427* 1 NULL NULL - no_errors SYCP2 10388 genome.wustl.edu 36 20 57888752 57888752 + Splice_Site SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 57888752 57888752 C T SNP SYCP2 NM_014258 human genbank 54_36p -1 reviewed splice_site c.2941+1 e29+1 1 - - - no_errors C20orf177 63939 genome.wustl.edu 36 20 57953306 57953306 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 57953306 57953306 C T SNP C20orf177 NM_022106 human genbank 54_36p 1 predicted missense c.913 p.R305C 0.28 NULL NULL - no_errors CDH26 60437 genome.wustl.edu 36 20 58000879 58000879 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 58000879 58000879 C T SNP CDH26 NM_177980 human genbank 54_36p 1 reviewed silent c.1335 p.S445 0.05 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors CDH26 60437 genome.wustl.edu 36 20 58002852 58002852 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 58002852 58002852 C G SNP CDH26 NM_177980 human genbank 54_36p 1 reviewed missense c.1579 p.L527V 0.6 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH26 60437 genome.wustl.edu 36 20 58004364 58004364 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 58004364 58004364 G A SNP CDH26 NM_177980 human genbank 54_36p 1 reviewed missense c.1748 p.G583E 0.95 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CHGB 1114 genome.wustl.edu 36 20 5852197 5852197 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 5852197 5852197 A T SNP CHGB NM_001819 human genbank 54_36p 1 reviewed missense c.1407 p.R469S 0.06 HMMPfam_Granin "HMMPfam_Granin,PatternScan_GRANINS_2,PatternScan_GRANINS_1" - no_errors FERMT1 55612 genome.wustl.edu 36 20 6005909 6005909 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 6005909 6005909 C T SNP FERMT1 NM_017671 human genbank 54_36p -1 validated missense c.1945 p.G649S 1 NULL "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,PatternScan_FERM_2" - no_errors SS18L1 26039 genome.wustl.edu 36 20 60173926 60173926 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 60173926 60173926 C T SNP SS18L1 NM_198935 human genbank 54_36p 1 validated missense c.877 p.R293W 0.71 NULL HMMPfam_SSXT - no_errors SLCO4A1 28231 genome.wustl.edu 36 20 60762296 60762296 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 60762296 60762296 C T SNP SLCO4A1 NM_016354 human genbank 54_36p 1 validated silent c.975 p.A325 0.03 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors DIDO1 11083 genome.wustl.edu 36 20 60998403 60998403 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 60998403 60998403 C T SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.1979 p.S660N 0 superfamily_Elongation factor TFIIS domain 2 "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC" - no_errors DIDO1 11083 genome.wustl.edu 36 20 61009072 61009072 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 20 61009072 61009072 C T SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.1246 p.D416N 1 NULL "HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors LOC643503 643503 genome.wustl.edu 36 20 6129907 6129907 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 6129907 6129907 G C SNP LOC643503 XM_001725260 human genbank 54_36p -1 model missense c.569 p.A190G 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360" - pseudogene YTHDF1 54915 genome.wustl.edu 36 20 61305139 61305139 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 61305139 61305139 C T SNP YTHDF1 NM_017798 human genbank 54_36p -1 validated missense c.598 p.V200I 1 NULL HMMPfam_YTH - no_errors TPD52L2 7165 genome.wustl.edu 36 20 61977628 61977628 + Silent SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 61977628 61977628 T A SNP TPD52L2 NM_199360 human genbank 54_36p 1 validated silent c.330 p.S110 1 HMMPfam_TPD52 HMMPfam_TPD52 - no_errors MYT1 4661 genome.wustl.edu 36 20 62313927 62313927 + Silent SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 62313927 62313927 G A SNP MYT1 NM_004535 human genbank 54_36p 1 reviewed silent c.1509 p.T503 0.64 "HMMPfam_zf-C2HC,superfamily_SSF103637" "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1" - no_errors MYT1 4661 genome.wustl.edu 36 20 62342189 62342189 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 62342189 62342189 G C SNP MYT1 NM_004535 human genbank 54_36p 1 reviewed missense c.3310 p.E1104Q 1 NULL "HMMPfam_zf-C2HC,HMMPfam_MYT1,superfamily_SSF103637" - no_errors C20orf54 113278 genome.wustl.edu 36 20 693986 693986 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 693986 693986 C G SNP C20orf54 NM_033409 human genbank 54_36p -1 validated missense c.433 p.E145Q 1 NULL HMMPfam_DUF1011 - no_errors HAO1 54363 genome.wustl.edu 36 20 7869060 7869060 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 7869060 7869060 G A SNP HAO1 NM_017545 human genbank 54_36p -1 reviewed missense c.10 p.R4W 0.05 superfamily_FMN-linked oxidoreductases "superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1" - no_errors ANGPT4 51378 genome.wustl.edu 36 20 806888 806888 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 806888 806888 C T SNP ANGPT4 NM_015985 human genbank 54_36p -1 reviewed missense c.1136 p.R379H 0.97 "HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C" "HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors PLCB4 5332 genome.wustl.edu 36 20 9236464 9236464 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 9236464 9236464 G A SNP PLCB4 NM_000933 human genbank 54_36p 1 reviewed missense c.3 p.M1I 1 NULL "superfamily_SSF50729,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1154" - no_errors PAK7 57144 genome.wustl.edu 36 20 9494755 9494755 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 9494755 9494755 G C SNP PAK7 NM_020341 human genbank 54_36p -1 reviewed missense c.1267 p.Q423E 1 NULL "PatternScan_PROTEIN_KINASE_ST,HMMPfam_PBD,HMMSmart_PBD,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors PAK7 57144 genome.wustl.edu 36 20 9509002 9509002 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 9509002 9509002 G A SNP PAK7 NM_020341 human genbank 54_36p -1 reviewed silent c.780 p.S260 1 NULL "HMMPfam_PBD,HMMSmart_PBD,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors KDM5B 10765 genome.wustl.edu 36 1 200978198 200978199 + Frame_Shift_Ins INS - C C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 - - C C - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 200978198 200978199 - C INS JARID1B NM_006618 human genbank 54_36p -1 validated frame_shift_ins c.2533_2532 p.F844fs 1.000:0.984 HMMPfam_PLU-1 "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1" - no_errors LOC100132639 100132639 genome.wustl.edu 36 17 20358529 20358529 + Silent SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 20358529 20358529 G T SNP LOC100132639 XM_001716566 human genbank 54_36p 1 model silent c.846 p.L282 1 NULL NULL - no_errors LOC100129743 100129743 genome.wustl.edu 36 2 203613403 203613403 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 203613403 203613403 C T SNP LOC100129743 XM_001724736 human genbank 54_36p 1 model missense c.328 p.L110F 0.92 "HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30" "HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30" - pseudogene LOC100129842 100129842 genome.wustl.edu 36 19 20520119 20520119 + RNA SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 20520119 20520119 G T SNP LOC100129842 XR_042310 human genbank 54_36p -1 model rna NULL NULL 0.05 - - - no_errors LOC100131961 100131961 genome.wustl.edu 36 1 208507095 208507095 + RNA SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208507095 208507095 G A SNP LOC100131961 XR_036984 human genbank 54_36p -1 model rna NULL NULL 0.96 - - - pseudogene IGLV10-54 28772 genome.wustl.edu 36 22 20899407 20899407 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 20899407 20899407 G T SNP IGLV10-54 ENST00000390287 human ensembl 54_36p 1 known missense c.99 p.L33F 0.01 "HMMPfam_V-set,superfamily_Immunoglobulin" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region POTED 317754 genome.wustl.edu 36 21 13904872 13904872 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 13904872 13904872 A G SNP POTED NM_174981 human genbank 54_36p 1 validated missense c.452 p.K151R 0.01 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors POTED 317754 genome.wustl.edu 36 21 13914436 13914436 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 13914436 13914436 A G SNP POTED NM_174981 human genbank 54_36p 1 validated missense c.1004 p.D335G 0.02 "HMMPfam_Ank,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors LOC653108 653108 genome.wustl.edu 36 21 13971336 13971336 + RNA SNP C T T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 13971336 13971336 C T SNP LOC653108 XR_016129 human genbank 54_36p 1 model rna NULL NULL 0.01 - - - pseudogene LOC441957 441957 genome.wustl.edu 36 21 14058087 14058087 + RNA SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 21 14058087 14058087 C G SNP LOC441957 XR_016199 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000215561 0 genome.wustl.edu 36 21 14228174 14228174 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 21 14228174 14228174 C A SNP ENSG00000215561 ENST00000400582 human ensembl 54_36p -1 known missense c.825 p.E275D 0.38 NULL NULL - no_start_codon LIPI 149998 genome.wustl.edu 36 21 14457677 14457677 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 14457677 14457677 T A SNP LIPI NM_198996 human genbank 54_36p -1 validated missense c.1003 p.R335W 0.01 "HMMPfam_Lipase,superfamily_SSF53474" "HMMPfam_Lipase,superfamily_SSF53474" - no_errors SAMSN1 64092 genome.wustl.edu 36 21 14792667 14792667 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 14792667 14792667 G A SNP SAMSN1 NM_022136 human genbank 54_36p -1 validated silent c.886 p.L296 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors SAMSN1 64092 genome.wustl.edu 36 21 14794923 14794923 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 14794923 14794923 C T SNP SAMSN1 NM_022136 human genbank 54_36p -1 validated missense c.566 p.G189E 1 "HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2" "HMMSmart_SM00326,superfamily_SH3-domain,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_SH3_2" - no_errors USP25 29761 genome.wustl.edu 36 21 16164305 16164305 + Silent SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 16164305 16164305 C G SNP USP25 NM_013396 human genbank 54_36p 1 validated silent c.2643 p.L881 1 NULL "superfamily_UBA-like,HMMPfam_UIM,HMMSmart_SM00726,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP25 29761 genome.wustl.edu 36 21 16172022 16172022 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 16172022 16172022 G C SNP USP25 NM_013396 human genbank 54_36p 1 validated missense c.2836 p.G946R 1 NULL "HMMPfam_UCH,HMMPfam_UIM,HMMSmart_SM00726,superfamily_UBA-like,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors CXADR 1525 genome.wustl.edu 36 21 17846071 17846071 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 17846071 17846071 T A SNP CXADR NM_001338 human genbank 54_36p 1 reviewed missense c.344 p.I115N 1 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_I-set" - no_errors NCAM2 4685 genome.wustl.edu 36 21 21574817 21574817 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 21574817 21574817 G C SNP NCAM2 NM_004540 human genbank 54_36p 1 reviewed missense c.104 p.G35A 1 "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors NCAM2 4685 genome.wustl.edu 36 21 21632585 21632585 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 21632585 21632585 C T SNP NCAM2 NM_004540 human genbank 54_36p 1 reviewed missense c.904 p.P302S 1 NULL "HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors GABPA 2551 genome.wustl.edu 36 21 26043285 26043285 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 26043285 26043285 A C SNP GABPA NM_002040 human genbank 54_36p 1 validated missense c.290 p.Q97P 1 NULL "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors APP 351 genome.wustl.edu 36 21 26406308 26406308 + Silent SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 26406308 26406308 C A SNP APP NM_000484 human genbank 54_36p -1 reviewed silent c.84 p.L28 1 "HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_A heparin-binding domain" ############################################################################################################################################################################################################################################################### - no_errors LTN1 26046 genome.wustl.edu 36 21 29225362 29225362 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 29225362 29225362 G T SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.5224 p.H1742N 1 "superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4" "superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4" - no_errors LTN1 26046 genome.wustl.edu 36 21 29280389 29280389 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 29280389 29280389 G A SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.287 p.T96I 1 superfamily_ARM repeat "HMMSmart_SM00744,superfamily_ARM repeat,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors C21orf7 56911 genome.wustl.edu 36 21 29454222 29454222 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 29454222 29454222 G C SNP C21orf7 NM_020152 human genbank 54_36p 1 provisional missense c.522 p.K174N 1 NULL NULL - no_errors C21orf7 56911 genome.wustl.edu 36 21 29468986 29468986 + Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 29468986 29468986 A - DEL C21orf7 NM_020152 human genbank 54_36p 1 provisional frame_shift_del c.631 p.T211fs 0.9 NULL NULL "(deletion:cds_exon[29468904,29469084])" no_errors CLDN17 26285 genome.wustl.edu 36 21 30460663 30460663 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 30460663 30460663 T A SNP CLDN17 NM_012131 human genbank 54_36p -1 provisional missense c.144 p.E48D 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors KRTAP13-3 337960 genome.wustl.edu 36 21 30719843 30719843 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 30719843 30719843 T G SNP KRTAP13-3 NM_181622 human genbank 54_36p -1 provisional missense c.259 p.M87L 0 HMMPfam_PMG HMMPfam_PMG - no_errors TIAM1 7074 genome.wustl.edu 36 21 31560651 31560651 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 31560651 31560651 G A SNP TIAM1 NM_003253 human genbank 54_36p -1 validated missense c.509 p.S170F 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_RBD,HMMSmart_RBD,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1" - no_errors C21orf63 59271 genome.wustl.edu 36 21 32809077 32809077 + Silent SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 32809077 32809077 A G SNP C21orf63 NM_058187 human genbank 54_36p 1 validated silent c.1032 p.R344 0.13 NULL HMMPfam_Gal_Lectin - no_errors C21orf63 59271 genome.wustl.edu 36 21 32809250 32809250 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 32809250 32809250 G T SNP C21orf63 NM_058187 human genbank 54_36p 1 validated missense c.1205 p.S402I 0.04 NULL HMMPfam_Gal_Lectin - no_errors SYNJ1 8867 genome.wustl.edu 36 21 32933092 32933092 + Silent SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 32933092 32933092 C T SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated silent c.3912 p.P1304 0.74 NULL "HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD" - no_errors SYNJ1 8867 genome.wustl.edu 36 21 32979982 32979982 + Silent SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 32979982 32979982 G C SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated silent c.1065 p.V355 1 NULL "HMMSmart_SM00128,HMMPfam_Syja_N,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD" - no_errors C21orf62 56245 genome.wustl.edu 36 21 33088423 33088423 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 33088423 33088423 C A SNP C21orf62 NM_019596 human genbank 54_36p -1 validated missense c.180 p.M60I 1 NULL NULL - no_errors ATP5O 539 genome.wustl.edu 36 21 34206471 34206471 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 34206471 34206471 T C SNP ATP5O NM_001697 human genbank 54_36p -1 reviewed missense c.190 p.R64G 0.46 "superfamily_N-terminal domain of the delta subunit of the F1F0-ATP synthase,HMMPfam_OSCP" "superfamily_N-terminal domain of the delta subunit of the F1F0-ATP synthase,HMMPfam_OSCP,PatternScan_ATPASE_DELTA" - no_errors SLC5A3 6526 genome.wustl.edu 36 21 34389965 34389965 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 34389965 34389965 A G SNP SLC5A3 NM_006933 human genbank 54_36p 1 validated missense c.598 p.M200V 1 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2" - no_errors KCNE1 3753 genome.wustl.edu 36 21 34743419 34743419 + Silent SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 34743419 34743419 G T SNP KCNE1 NM_000219 human genbank 54_36p -1 reviewed silent c.384 p.S128 0 HMMPfam_ISK_Channel HMMPfam_ISK_Channel - no_errors KCNE1 3753 genome.wustl.edu 36 21 34743717 34743717 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 34743717 34743717 C T SNP KCNE1 NM_000219 human genbank 54_36p -1 reviewed missense c.86 p.G29D 0.03 HMMPfam_ISK_Channel HMMPfam_ISK_Channel - no_errors CHAF1B 8208 genome.wustl.edu 36 21 36680416 36680416 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 36680416 36680416 G T SNP CHAF1B NM_005441 human genbank 54_36p 1 reviewed missense c.112 p.D38Y 1 "HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40" "HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors HLCS 3141 genome.wustl.edu 36 21 37231367 37231367 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 37231367 37231367 C T SNP HLCS NM_000411 human genbank 54_36p -1 validated missense c.248 p.S83N 0 NULL "superfamily_SSF55681,HMMPfam_BPL_LipA_LipB,HMMPfam_BPL_C" - no_errors TTC3 7267 genome.wustl.edu 36 21 37418871 37418871 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 37418871 37418871 A G SNP TTC3 NM_001001894 human genbank 54_36p 1 validated missense c.1192 p.I398V 0.02 "superfamily_SSF48452,superfamily_Spectrin" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,superfamily_Spectrin,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors TTC3 7267 genome.wustl.edu 36 21 37459747 37459747 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 37459747 37459747 C G SNP TTC3 NM_001001894 human genbank 54_36p 1 validated missense c.3361 p.H1121D 0.97 "superfamily_Spectrin,superfamily_SSF48452" "HMMPfam_TPR_1,HMMSmart_RING,HMMPfam_zf-C3HC4,HMMSmart_TPR,superfamily_Spectrin,superfamily_SSF48452,superfamily_SSF57850" - no_errors DSCR4 10281 genome.wustl.edu 36 21 38348854 38348854 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 38348854 38348854 T C SNP DSCR4 NM_005867 human genbank 54_36p -1 reviewed missense c.322 p.R108G 0 NULL NULL - no_errors ERG 2078 genome.wustl.edu 36 21 38677670 38677670 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 38677670 38677670 G A SNP ERG NM_182918 human genbank 54_36p -1 validated missense c.965 p.S322L 1 "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS" "superfamily_SAM_homology,HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors ETS2 2114 genome.wustl.edu 36 21 39113551 39113551 + Missense_Mutation SNP G T T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 39113551 39113551 G T SNP ETS2 NM_005239 human genbank 54_36p 1 validated missense c.1066 p.G356C 1 superfamily_SSF46785 "superfamily_SAM_homology,HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors LOC391282 391282 genome.wustl.edu 36 21 39421767 39421767 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 39421767 39421767 G A SNP LOC391282 XM_372878 human genbank 54_36p 1 model silent c.432 p.K144 0.99 "superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L23" "HMMPfam_Ribosomal_L23eN,superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L23" - pseudogene BRWD1 54014 genome.wustl.edu 36 21 39568229 39568229 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 39568229 39568229 C A SNP BRWD1 NM_018963 human genbank 54_36p -1 reviewed missense c.1185 p.W395C 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors DSCAM 1826 genome.wustl.edu 36 21 40345871 40345871 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 40345871 40345871 T G SNP DSCAM NM_001389 human genbank 54_36p -1 validated missense c.5069 p.D1690A 1 NULL "superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors DSCAM 1826 genome.wustl.edu 36 21 40427701 40427701 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 40427701 40427701 G A SNP DSCAM NM_001389 human genbank 54_36p -1 validated missense c.3512 p.A1171V 0.99 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors DSCAM 1826 genome.wustl.edu 36 21 40647355 40647355 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 40647355 40647355 C T SNP DSCAM NM_001389 human genbank 54_36p -1 validated missense c.841 p.E281K 1 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors MX2 4600 genome.wustl.edu 36 21 41671777 41671777 + Silent SNP C T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 41671777 41671777 C T SNP MX2 NM_002463 human genbank 54_36p 1 reviewed silent c.441 p.S147 0.99 "HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN" "HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_GED" - no_errors RIPK4 54101 genome.wustl.edu 36 21 42034499 42034499 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42034499 42034499 C T SNP RIPK4 ENST00000330470 human ensembl 54_36p -1 known missense c.1132 p.A378T 1 NULL "HMMPfam_Pkinase_Tyr,superfamily_Ankyrin repeat,PatternScan_ASP_PROTEASE,HMMSmart_SM00248,HMMPfam_Ank" - no_errors RIPK4 54101 genome.wustl.edu 36 21 42034550 42034550 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42034550 42034550 G C SNP RIPK4 NM_020639 human genbank 54_36p -1 reviewed missense c.1872 p.I624M 0.9 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors C2CD2 25966 genome.wustl.edu 36 21 42200854 42200854 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42200854 42200854 C G SNP C2CD2 NM_015500 human genbank 54_36p -1 validated missense c.1127 p.G376A 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors ZNF295 49854 genome.wustl.edu 36 21 42284519 42284519 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42284519 42284519 T G SNP ZNF295 NM_001098402 human genbank 54_36p -1 validated missense c.2755 p.T919P 0.99 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors UMODL1 89766 genome.wustl.edu 36 21 42406940 42406940 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42406940 42406940 C A SNP UMODL1 NM_173568 human genbank 54_36p 1 validated missense c.2677 p.H893N 0.06 "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" ############################################################################################################################################################################################################################################################### - no_errors ABCG1 9619 genome.wustl.edu 36 21 42583288 42583288 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42583288 42583288 G A SNP ABCG1 NM_004915 human genbank 54_36p 1 reviewed silent c.1320 p.L440 0.85 HMMPfam_ABC2_membrane "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors TMPRSS3 64699 genome.wustl.edu 36 21 42669753 42669753 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42669753 42669753 G T SNP TMPRSS3 NM_024022 human genbank 54_36p -1 reviewed missense c.1160 p.A387E 1 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors UBASH3A 53347 genome.wustl.edu 36 21 42711737 42711737 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42711737 42711737 G A SNP UBASH3A NM_018961 human genbank 54_36p 1 validated silent c.996 p.P332 0.75 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "superfamily_UBA-like,HMMPfam_UBA,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM" - no_errors UBASH3A 53347 genome.wustl.edu 36 21 42740301 42740301 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42740301 42740301 C G SNP UBASH3A NM_018961 human genbank 54_36p 1 validated missense c.1914 p.N638K 0.11 superfamily_Phosphoglycerate mutase-like "HMMPfam_UBA,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_UBA-like,HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like" - no_errors TRAPPC10 7109 genome.wustl.edu 36 21 44276400 44276400 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 44276400 44276400 G A SNP TRAPPC10 NM_003274 human genbank 54_36p 1 reviewed missense c.68 p.C23Y 1 NULL PatternScan_AA_TRNA_LIGASE_I - no_errors KRTAP10-9 386676 genome.wustl.edu 36 21 44871722 44871722 + Nonsense_Mutation SNP C G G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 44871722 44871722 C G SNP KRTAP10-9 NM_198690 human genbank 54_36p 1 validated nonsense c.206 p.S69* 0.11 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors KRTAP10-11 386678 genome.wustl.edu 36 21 44890836 44890836 + Silent SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 21 44890836 44890836 C T SNP KRTAP10-11 NM_198692 human genbank 54_36p 1 validated silent c.33 p.S11 0.09 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors KRTAP10-11 386678 genome.wustl.edu 36 21 44891299 44891299 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 44891299 44891299 T C SNP KRTAP10-11 NM_198692 human genbank 54_36p 1 validated missense c.496 p.S166P 0 NULL HMMPfam_Keratin_B2 - no_errors PTTG1IP 754 genome.wustl.edu 36 21 45100669 45100669 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 45100669 45100669 C G SNP PTTG1IP NM_004339 human genbank 54_36p -1 reviewed missense c.316 p.G106R 0.87 NULL HMMSmart_SM00423 - no_errors ITGB2 3689 genome.wustl.edu 36 21 45151408 45151408 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 21 45151408 45151408 T G SNP ITGB2 NM_000211 human genbank 54_36p -1 reviewed missense c.178 p.I60L 0 "HMMSmart_PSI,HMMPfam_Integrin_beta,HMMSmart_INB" ############################################################################################################################################################################################################################################################### - no_errors COL6A1 1291 genome.wustl.edu 36 21 46246965 46246965 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 46246965 46246965 C G SNP COL6A1 NM_001848 human genbank 54_36p 1 reviewed missense c.2347 p.R783G 0.01 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Collagen" - no_errors C21orf57 54059 genome.wustl.edu 36 21 46535738 46535738 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 46535738 46535738 T G SNP C21orf57 NM_058181 human genbank 54_36p 1 validated missense c.273 p.I91M 0.99 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_UPF0054" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_UPF0054,PatternScan_UPF0054" - no_errors C21orf57 54059 genome.wustl.edu 36 21 46535743 46535743 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 46535743 46535743 T C SNP C21orf57 NM_058181 human genbank 54_36p 1 validated missense c.278 p.L93P 1 "HMMPfam_UPF0054,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_UPF0054,PatternScan_UPF0054,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors PCNT 5116 genome.wustl.edu 36 21 46676267 46676267 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 46676267 46676267 C T SNP PCNT NM_006031 human genbank 54_36p 1 reviewed nonsense c.8461 p.Q2821* 0 NULL HMMPfam_PACT_coil_coil - no_errors DIP2A 23181 genome.wustl.edu 36 21 46748734 46748734 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 46748734 46748734 G A SNP DIP2A NM_015151 human genbank 54_36p 1 reviewed missense c.688 p.G230S 1 NULL "HMMPfam_DMAP_binding,superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" - no_errors TPTE 7179 genome.wustl.edu 36 21 9955923 9955923 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 9955923 9955923 C T SNP TPTE NM_199261 human genbank 54_36p -1 validated missense c.925 p.V309I 1 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors TPTE 7179 genome.wustl.edu 36 21 9963816 9963816 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 9963816 9963816 G T SNP TPTE NM_199261 human genbank 54_36p -1 validated missense c.758 p.S253Y 1 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_Voltage-gated potassium channels" - no_errors uc001wbi.2 0 genome.wustl.edu 36 14 21160479 21160479 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 21160479 21160479 G A SNP uc001wbi.2 ENST00000390422 human ensembl 54_36p 1 known missense c.245 p.S82N 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region IGLV3-12 28802 genome.wustl.edu 36 22 21444931 21444931 + Missense_Mutation SNP G A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 21444931 21444931 G A SNP IGLV3-12 ENST00000390313 human ensembl 54_36p 1 known missense c.203 p.S68N 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000214873 0 genome.wustl.edu 36 16 21451902 21451902 + Silent SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21451902 21451902 T G SNP ENSG00000214873 ENST00000399155 human ensembl 54_36p -1 known silent c.510 p.A170 0.83 "HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd" "HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd,PatternScan_ALPHA_CA_1" - no_start_codon:no_stop_codon IGL@ 3535 genome.wustl.edu 36 22 21465262 21465262 + Missense_Mutation SNP A T T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A T T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 21465262 21465262 A T SNP IGL@ ENST00000390314 human ensembl 54_36p 1 known missense c.124 p.T42S 0.01 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_stop_codon uc001wcu.2 0 genome.wustl.edu 36 14 21546075 21546075 + Silent SNP C C T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 21546075 21546075 C T SNP uc001wcu.2 ENST00000390447 human ensembl 54_36p 1 known silent c.165 p.F55 0.99 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region SNORA36B 677818 genome.wustl.edu 36 1 218440622 218440622 + RNA SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 218440622 218440622 C G SNP SNORA36B NR_002994 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors LOC729057 729057 genome.wustl.edu 36 22 14503690 14503690 + RNA SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 14503690 14503690 C T SNP LOC729057 XR_042044 human genbank 54_36p 1 model rna NULL NULL 0.91 - - - no_errors POTEH 23784 genome.wustl.edu 36 22 14667661 14667661 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 14667661 14667661 G A SNP POTEH ENST00000354997 human ensembl 54_36p -1 known silent c.225 p.S75 0 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" - no_errors CCT8L2 150160 genome.wustl.edu 36 22 15452821 15452821 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 15452821 15452821 G A SNP CCT8L2 NM_014406 human genbank 54_36p -1 validated missense c.620 p.A207V 0 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like" - no_errors XKR3 150165 genome.wustl.edu 36 22 15645233 15645233 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 15645233 15645233 A G SNP XKR3 NM_175878 human genbank 54_36p -1 validated missense c.656 p.I219T 1 HMMPfam_XK-related HMMPfam_XK-related - no_errors CECR2 27443 genome.wustl.edu 36 22 16396909 16396909 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 16396909 16396909 A G SNP CECR2 ENST00000400585 human ensembl 54_36p 1 known missense c.1160 p.K387R 0.56 superfamily_Bromodomain "superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors DGCR14 8220 genome.wustl.edu 36 22 17507498 17507498 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 17507498 17507498 C A SNP DGCR14 NM_022719 human genbank 54_36p -1 reviewed missense c.440 p.S147I 1 HMMPfam_Es2 HMMPfam_Es2 - no_errors CLTCL1 8218 genome.wustl.edu 36 22 17555514 17555514 + Nonstop_Mutation SNP C A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 17555514 17555514 C A SNP CLTCL1 NM_007098 human genbank 54_36p -1 reviewed nonstop c.4412 p.*1471L 1 NULL "superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel,HMMPfam_Clathrin-link,superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CLTCL1 8218 genome.wustl.edu 36 22 17589499 17589499 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 17589499 17589499 C A SNP CLTCL1 ENST00000263200 human ensembl 54_36p -1 known missense c.2536 p.V846L 1 "HMMPfam_Clathrin,HMMSmart_SM00299" "HMMPfam_Clathrin,HMMSmart_SM00299,HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin-link,superfamily_ARM repeat" - no_errors TBX1 6899 genome.wustl.edu 36 22 18131755 18131755 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 18131755 18131755 C T SNP TBX1 NM_080647 human genbank 54_36p 1 reviewed missense c.590 p.P197L 1 "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_2" "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TXNRD2 10587 genome.wustl.edu 36 22 18282798 18282798 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 18282798 18282798 A T SNP TXNRD2 ENST00000400516 human ensembl 54_36p -1 known missense c.530 p.I177N 0.74 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,PatternScan_PYRIDINE_REDOX_1,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim" - no_errors PI4KAP1 728233 genome.wustl.edu 36 22 18765740 18765743 + RNA DEL TGTC TGTC - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 TGTC TGTC TGTC - TGTC TGTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 18765740 18765743 TGTC - DEL PI4KAP1 NR_003563 human genbank 54_36p -1 provisional rna NULL NULL 1.000:1.000:1.000:1.000 - - "(deletion:rna[18765726,18765815])" pseudogene AIFM3 150209 genome.wustl.edu 36 22 19658884 19658884 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 19658884 19658884 G A SNP AIFM3 NM_144704 human genbank 54_36p 1 provisional missense c.581 p.S194N 1 superfamily_FAD/NAD(P)-binding domain "HMMPfam_Rieske,superfamily_ISP domain,superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain" - no_errors LZTR1 8216 genome.wustl.edu 36 22 19670180 19670180 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 19670180 19670180 G T SNP LZTR1 NM_006767 human genbank 54_36p 1 reviewed missense c.314 p.W105L 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB" - no_errors PPM1F 9647 genome.wustl.edu 36 22 20617785 20617785 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 20617785 20617785 A G SNP PPM1F NM_014634 human genbank 54_36p -1 reviewed missense c.725 p.F242S 0.99 "superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG" "superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C" - no_errors IGLV3-22 28795 genome.wustl.edu 36 22 21377142 21377142 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 21377142 21377142 G C SNP IGLV3-22 ENST00000390307 human ensembl 54_36p 1 known missense c.180 p.Q60H 0.88 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_stop_codon IGL@ 3535 genome.wustl.edu 36 22 21385635 21385635 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 21385635 21385635 G C SNP IGL@ ENST00000390308 human ensembl 54_36p 1 known missense c.298 p.D100H 1 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region RTDR1 27156 genome.wustl.edu 36 22 21731715 21731715 + Silent SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 21731715 21731715 G A SNP RTDR1 NM_014433 human genbank 54_36p -1 reviewed silent c.972 p.Y324 0 NULL "superfamily_ARM-type_fold,HMMPfam_Arm" - no_errors LOC649264 649264 genome.wustl.edu 36 22 22042642 22042642 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22042642 22042642 G A SNP LOC649264 XM_001131286 human genbank 54_36p -1 model missense c.335 p.S112F 1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" - no_errors LOC645904 645904 genome.wustl.edu 36 22 22132596 22132596 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22132596 22132596 C T SNP LOC645904 XM_928876 human genbank 54_36p 1 model silent c.132 p.T44 0.22 HMMPfam_MAD HMMPfam_MAD - no_errors RGL4 266747 genome.wustl.edu 36 22 22368801 22368801 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22368801 22368801 G T SNP RGL4 NM_153615 human genbank 54_36p 1 provisional missense c.1087 p.A363S 0.59 "superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF" "superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF" - no_errors ZNF70 7621 genome.wustl.edu 36 22 22416469 22416469 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22416469 22416469 T C SNP ZNF70 NM_021916 human genbank 54_36p -1 provisional missense c.859 p.K287E 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SMARCB1 6598 genome.wustl.edu 36 22 22489112 22489112 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22489112 22489112 G A SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed missense c.784 p.V262I 1 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors DERL3 91319 genome.wustl.edu 36 22 22509304 22509304 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22509304 22509304 G A SNP DERL3 NM_001002862 human genbank 54_36p -1 reviewed silent c.561 p.D187 0.99 HMMPfam_DER1 HMMPfam_DER1 - no_errors CABIN1 23523 genome.wustl.edu 36 22 22821950 22821950 + Silent SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22821950 22821950 G A SNP CABIN1 NM_012295 human genbank 54_36p 1 reviewed silent c.3843 p.G1281 0.98 NULL "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,HMMPfam_MEF2_binding" - no_errors CABIN1 23523 genome.wustl.edu 36 22 22860285 22860285 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22860285 22860285 G A SNP CABIN1 NM_012295 human genbank 54_36p 1 reviewed missense c.4649 p.R1550H 1 NULL "HMMPfam_TPR_1,HMMPfam_MEF2_binding,HMMSmart_TPR,superfamily_SSF48452" - no_errors GGT5 2687 genome.wustl.edu 36 22 22945945 22945945 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 22945945 22945945 C A SNP GGT5 NM_001099781 human genbank 54_36p -1 reviewed missense c.1757 p.G586V 0.98 NULL "HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE" - no_errors UPB1 51733 genome.wustl.edu 36 22 23239450 23239450 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 23239450 23239450 C T SNP UPB1 NM_016327 human genbank 54_36p 1 reviewed silent c.618 p.N206 0.99 "superfamily_Carbon-nitrogen hydrolase,HMMPfam_CN_hydrolase" "superfamily_Carbon-nitrogen hydrolase,HMMPfam_CN_hydrolase" - no_errors UPB1 51733 genome.wustl.edu 36 22 23249597 23249597 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 23249597 23249597 C G SNP UPB1 NM_016327 human genbank 54_36p 1 reviewed missense c.927 p.D309E 1 superfamily_Carbon-nitrogen hydrolase "HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase" - no_errors SNRPD3 6634 genome.wustl.edu 36 22 23283654 23283654 + Silent SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 23283654 23283654 T C SNP SNRPD3 NM_004175 human genbank 54_36p 1 reviewed silent c.12 p.G4 1 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors PIWIL3 440822 genome.wustl.edu 36 22 23488369 23488369 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 23488369 23488369 G C SNP PIWIL3 NM_001008496 human genbank 54_36p -1 validated missense c.98 p.A33G 0 NULL "superfamily_SSF101690,HMMPfam_PAZ,superfamily_RNaseH_fold,HMMPfam_Piwi" - no_errors SGSM1 129049 genome.wustl.edu 36 22 23570895 23570895 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 23570895 23570895 G A SNP SGSM1 NM_001039948 human genbank 54_36p 1 validated missense c.95 p.R32H 0.97 NULL "HMMPfam_RUN,HMMSmart_SM00593,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC" - no_errors SGSM1 129049 genome.wustl.edu 36 22 23573735 23573735 + Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 23573735 23573735 C T SNP SGSM1 NM_001039948 human genbank 54_36p 1 validated nonsense c.274 p.Q92* 1 HMMPfam_RUN "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_RUN,HMMSmart_SM00593" - no_errors MYO18B 84700 genome.wustl.edu 36 22 24718430 24718430 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 24718430 24718430 A C SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.6258 p.E2086D 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors MYO18B 84700 genome.wustl.edu 36 22 24753142 24753142 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 24753142 24753142 A G SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.7202 p.K2401R 0.04 NULL "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25018759 25018759 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 25018759 25018759 C T SNP SEZ6L NM_021115 human genbank 54_36p 1 validated missense c.482 p.T161M 0.37 NULL "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB" - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25036763 25036763 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 25036763 25036763 C A SNP SEZ6L NM_021115 human genbank 54_36p 1 validated missense c.1642 p.Q548K 0.88 "HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25066599 25066599 + Splice_Site SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 25066599 25066599 G A SNP SEZ6L NM_021115 human genbank 54_36p 1 validated splice_site c.2212+1 e10+1 1 - - - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25077080 25077080 + Silent SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 25077080 25077080 C T SNP SEZ6L NM_021115 human genbank 54_36p 1 validated silent c.2470 p.L824 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" - no_errors CHEK2 11200 genome.wustl.edu 36 22 27422947 27422947 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 27422947 27422947 C T SNP CHEK2 NM_001005735 human genbank 54_36p -1 reviewed missense c.1166 p.R389H 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors ZNRF3 84133 genome.wustl.edu 36 22 27775294 27775294 + Silent SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 27775294 27775294 C G SNP ZNRF3 NM_032173 human genbank 54_36p 1 validated silent c.825 p.T275 0.99 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RFPL1S 10740 genome.wustl.edu 36 22 28163379 28163379 + RNA SNP G G A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 28163379 28163379 G A SNP RFPL1S NR_002727 human genbank 54_36p -1 validated rna NULL NULL 0 - - - no_errors UQCR10 29796 genome.wustl.edu 36 22 28493396 28493396 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 28493396 28493396 C T SNP UCRC NM_013387 human genbank 54_36p 1 validated silent c.9 p.A3 0 NULL "superfamily_Ubiquinol_cytC_Reductase_QCR9,HMMPfam_UCR_UQCRX_QCR9" - no_errors SF3A1 10291 genome.wustl.edu 36 22 29065183 29065183 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 29065183 29065183 C A SNP SF3A1 NM_005877 human genbank 54_36p -1 reviewed missense c.1433 p.G478V 1 NULL "superfamily_SSF109905,HMMSmart_SWAP,HMMPfam_Surp,superfamily_SSF54236,HMMPfam_ubiquitin,HMMSmart_UBQ" - no_errors SF3A1 10291 genome.wustl.edu 36 22 29072390 29072390 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 29072390 29072390 T A SNP SF3A1 NM_005877 human genbank 54_36p -1 reviewed nonsense c.304 p.K102* 1 "HMMSmart_SWAP,superfamily_SSF109905" "HMMPfam_Surp,HMMSmart_SWAP,HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF109905,superfamily_SSF54236" - no_errors SEC14L3 266629 genome.wustl.edu 36 22 29187550 29187550 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 29187550 29187550 G C SNP SEC14L3 NM_174975 human genbank 54_36p -1 reviewed missense c.903 p.C301W 1 superfamily_SSF101576 "superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO,superfamily_SSF101576" - no_errors SEC14L3 266629 genome.wustl.edu 36 22 29188108 29188108 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 29188108 29188108 T C SNP SEC14L3 NM_174975 human genbank 54_36p -1 reviewed missense c.736 p.T246A 1 "HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C" "HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO_N,superfamily_Sec14p_like_N,superfamily_SSF101576" - no_errors LOC730005 730005 genome.wustl.edu 36 22 29251840 29251840 + Silent SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 29251840 29251840 G A SNP LOC730005 XM_001132040 human genbank 54_36p -1 model silent c.744 p.P248 0.92 "superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO" "superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO,superfamily_SSF101576" - no_errors PATZ1 23598 genome.wustl.edu 36 22 30061753 30061753 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 30061753 30061753 G A SNP PATZ1 NM_014323 human genbank 54_36p -1 reviewed missense c.1432 p.R478W 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_HMGI_Y,HMMPfam_AT_hook,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors EIF4ENIF1 56478 genome.wustl.edu 36 22 30166737 30166737 + Frame_Shift_Del DEL C C - novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C - C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 30166737 30166737 C - DEL EIF4ENIF1 NM_019843 human genbank 54_36p -1 reviewed frame_shift_del c.2669 p.G890fs 1 NULL HMMPfam_EIF4E-T "(deletion:cds_exon[30166690,30166854])" no_errors DEPDC5 9681 genome.wustl.edu 36 22 30532135 30532159 + Frame_Shift_Del DEL TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA - novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA - TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 30532135 30532159 TTGTAATAGTTTCACCCCACGAATA - DEL DEPDC5 NM_014662 human genbank 54_36p 1 validated frame_shift_del c.1245_1269 p.F415fs 0.945:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.904:1.000:1.000:1.000:1.000:1.000:0.987:1.000:1.000:1.000 NULL "superfamily_Winged helix DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" "(deletion:cds_exon[30532108,30532177])" no_errors DEPDC5 9681 genome.wustl.edu 36 22 30536507 30536507 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 30536507 30536507 C T SNP DEPDC5 NM_014662 human genbank 54_36p 1 validated missense c.1325 p.S442F 1 NULL "HMMPfam_DEP,HMMSmart_SM00049,superfamily_Winged helix DNA-binding domain" - no_errors DEPDC5 9681 genome.wustl.edu 36 22 30583446 30583446 + Silent SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 30583446 30583446 G A SNP DEPDC5 NM_014662 human genbank 54_36p 1 validated silent c.3144 p.Q1048 1 NULL "HMMPfam_DEP,HMMSmart_SM00049,superfamily_Winged helix DNA-binding domain" - no_errors FBXO7 25793 genome.wustl.edu 36 22 31211059 31211059 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 31211059 31211059 C T SNP FBXO7 NM_012179 human genbank 54_36p 1 reviewed missense c.650 p.T217I 0.98 NULL "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX" - no_errors LARGE 9215 genome.wustl.edu 36 22 32042112 32042112 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 32042112 32042112 G C SNP LARGE NM_004737 human genbank 54_36p -1 reviewed missense c.1410 p.D470E 1 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" - no_errors ISX 91464 genome.wustl.edu 36 22 33811509 33811509 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 33811509 33811509 G A SNP ISX NM_001008494 human genbank 54_36p 1 validated silent c.561 p.S187 0 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HMOX1 3162 genome.wustl.edu 36 22 34112809 34112809 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 34112809 34112809 C T SNP HMOX1 NM_002133 human genbank 54_36p 1 reviewed silent c.276 p.D92 1 "superfamily_Heme oxygenase-like,HMMPfam_Heme_oxygenase" "superfamily_Heme oxygenase-like,HMMPfam_Heme_oxygenase,PatternScan_HEME_OXYGENASE" - no_errors MCM5 4174 genome.wustl.edu 36 22 34143848 34143848 + Missense_Mutation SNP G T T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 34143848 34143848 G T SNP MCM5 NM_006739 human genbank 54_36p 1 reviewed missense c.1702 p.V568L 0.99 "HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases" "superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_MCM_1" - no_errors IL2RB 3560 genome.wustl.edu 36 22 35854460 35854460 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 35854460 35854460 G T SNP IL2RB NM_000878 human genbank 54_36p -1 reviewed missense c.1278 p.D426E 0.5 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_S_F1" - no_errors CYTH4 27128 genome.wustl.edu 36 22 36025279 36025279 + Silent SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 36025279 36025279 C T SNP CYTH4 NM_013385 human genbank 54_36p 1 reviewed silent c.420 p.L140 1 "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7" "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors CARD10 29775 genome.wustl.edu 36 22 36223101 36223101 + Silent SNP G A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 36223101 36223101 G A SNP CARD10 NM_014550 human genbank 54_36p -1 reviewed silent c.1818 p.S606 0.74 NULL "superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52540" - no_errors PDXP 57026 genome.wustl.edu 36 22 36391593 36391593 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 36391593 36391593 G C SNP PDXP NM_020315 human genbank 54_36p 1 validated missense c.660 p.E220D 1 "superfamily_SSF56784,HMMPfam_Hydrolase" "superfamily_SSF56784,HMMPfam_Hydrolase" - no_errors PDXP 57026 genome.wustl.edu 36 22 36391596 36391596 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 36391596 36391596 C T SNP PDXP NM_020315 human genbank 54_36p 1 validated silent c.663 p.C221 1 "HMMPfam_Hydrolase,superfamily_SSF56784" "HMMPfam_Hydrolase,superfamily_SSF56784" - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36451629 36451629 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 36451629 36451629 C A SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.3120 p.F1040L 1 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors EIF3L 51386 genome.wustl.edu 36 22 36596199 36596199 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 36596199 36596199 C G SNP EIF3L NM_016091 human genbank 54_36p 1 validated missense c.650 p.S217C 1 HMMPfam_Paf67 HMMPfam_Paf67 - no_errors PLA2G6 8398 genome.wustl.edu 36 22 36839528 36839528 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 36839528 36839528 C T SNP PLA2G6 NM_003560 human genbank 54_36p -1 reviewed missense c.2114 p.C705Y 1 superfamily_FabD/lysophospholipase-like "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_FabD/lysophospholipase-like,HMMPfam_Patatin" - no_errors CSNK1E 1454 genome.wustl.edu 36 22 37026724 37026724 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37026724 37026724 G T SNP CSNK1E NM_001894 human genbank 54_36p -1 reviewed missense c.516 p.N172K 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ENSG00000100181 0 genome.wustl.edu 36 22 37087469 37087469 + Silent SNP G A A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37087469 37087469 G A SNP ENSG00000100181 ENST00000381645 human ensembl 54_36p -1 known silent c.318 p.V106 0.68 NULL NULL - no_stop_codon KDELR3 11015 genome.wustl.edu 36 22 37207391 37207391 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37207391 37207391 T G SNP KDELR3 NM_016657 human genbank 54_36p 1 reviewed missense c.580 p.F194V 1 NULL "HMMPfam_ER_lumen_recept,PatternScan_ER_LUMEN_RECEPTOR_1,PatternScan_ER_LUMEN_RECEPTOR_2" - no_errors KDELR3 11015 genome.wustl.edu 36 22 37207392 37207392 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37207392 37207392 T A SNP KDELR3 NM_016657 human genbank 54_36p 1 reviewed missense c.581 p.F194Y 1 NULL "HMMPfam_ER_lumen_recept,PatternScan_ER_LUMEN_RECEPTOR_1,PatternScan_ER_LUMEN_RECEPTOR_2" - no_errors DMC1 11144 genome.wustl.edu 36 22 37294187 37294187 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37294187 37294187 C T SNP DMC1 NM_007068 human genbank 54_36p -1 reviewed silent c.21 p.V7 0.53 NULL "superfamily_Rad51_N,HMMPfam_HHH,HMMPfam_Rad51,superfamily_SSF52540,HMMSmart_AAA" - no_errors CBY1 25776 genome.wustl.edu 36 22 37394077 37394077 + Silent SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37394077 37394077 G A SNP CBY1 NM_001002880 human genbank 54_36p 1 reviewed silent c.72 p.L24 0.99 NULL NULL - no_errors APOBEC3B 9582 genome.wustl.edu 36 22 37717443 37717443 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 37717443 37717443 C T SNP APOBEC3B NM_004900 human genbank 54_36p 1 reviewed missense c.884 p.A295V 0.01 "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like" "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like,PatternScan_CYT_DCMP_DEAMINASES,HMMPfam_APOBEC_C" - no_errors APOBEC3D 140564 genome.wustl.edu 36 22 37757785 37757785 + Silent SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22 37757785 37757785 C T SNP APOBEC3D ENST00000216099 human ensembl 54_36p 1 known silent c.903 p.A301 0.03 "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like" "HMMPfam_APOBEC_N,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine deaminase-like,HMMPfam_APOBEC_C" - no_errors CBX7 23492 genome.wustl.edu 36 22 37859983 37859983 + Silent SNP G T T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 37859983 37859983 G T SNP CBX7 NM_175709 human genbank 54_36p -1 validated silent c.615 p.A205 0.67 NULL "superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,PatternScan_CHROMO_1" - no_errors ENTHD1 150350 genome.wustl.edu 36 22 38613618 38613618 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 38613618 38613618 G A SNP ENTHD1 NM_152512 human genbank 54_36p -1 provisional silent c.81 p.N27 1 "superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273" "superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273" - no_errors SGSM3 27352 genome.wustl.edu 36 22 39132123 39132123 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 39132123 39132123 G A SNP SGSM3 NM_015705 human genbank 54_36p 1 validated missense c.910 p.E304K 1 "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_RUN,HMMSmart_SM00593" - no_errors SGSM3 27352 genome.wustl.edu 36 22 39135225 39135225 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 39135225 39135225 G C SNP SGSM3 NM_015705 human genbank 54_36p 1 validated missense c.2014 p.E672Q 1 "HMMPfam_RUN,HMMSmart_SM00593" "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_RUN,HMMSmart_SM00593" - no_errors DNAJB7 150353 genome.wustl.edu 36 22 39587615 39587615 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 39587615 39587615 G C SNP DNAJB7 NM_145174 human genbank 54_36p -1 provisional missense c.330 p.H110Q 1 superfamily_DnaJ_N "superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1" - no_errors L3MBTL2 83746 genome.wustl.edu 36 22 39935693 39935693 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 39935693 39935693 G A SNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated silent c.72 p.L24 1 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT" - no_errors L3MBTL2 83746 genome.wustl.edu 36 22 39935707 39935707 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 39935707 39935707 G A SNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated missense c.86 p.G29D 1 NULL "HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" - no_errors TEF 7008 genome.wustl.edu 36 22 40113439 40113444 + In_Frame_Del DEL TGGACC TGGACC - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TGGACC TGGACC TGGACC - TGGACC TGGACC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 40113439 40113444 TGGACC - DEL TEF NM_003216 human genbank 54_36p 1 reviewed in_frame_del c.296_301 p.LD101in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_SM00338,HMMPfam_bZIP_2" "(deletion:cds_exon[40113301,40113618])" no_errors TOB2 10766 genome.wustl.edu 36 22 40162846 40162846 + Silent SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 40162846 40162846 C G SNP TOB2 NM_016272 human genbank 54_36p -1 validated silent c.450 p.L150 1 NULL "HMMSmart_btg1,HMMPfam_BTG,PatternScan_BTG_1,PatternScan_BTG_2,HMMPfam_PAM2" - no_errors XRCC6 2547 genome.wustl.edu 36 22 40379603 40379603 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 40379603 40379603 A C SNP XRCC6 NM_001469 human genbank 54_36p 1 reviewed missense c.1254 p.E418D 1 "superfamily_SPOC-like,HMMPfam_Ku,HMMSmart_Ku78" "superfamily_SSF53300,HMMPfam_Ku_N,superfamily_SPOC-like,HMMPfam_Ku,HMMSmart_Ku78,HMMPfam_Ku_C,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" - no_errors WBP2NL 164684 genome.wustl.edu 36 22 40745687 40745687 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 40745687 40745687 C G SNP WBP2NL NM_152613 human genbank 54_36p 1 validated missense c.247 p.L83V 0.95 NULL HMMPfam_WWbp - no_errors TCF20 6942 genome.wustl.edu 36 22 40935764 40935764 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 40935764 40935764 G C SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed missense c.5492 p.T1831S 1 NULL HMMSmart_SM00249 - no_errors TCF20 6942 genome.wustl.edu 36 22 40938076 40938076 + Silent SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 40938076 40938076 G C SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed silent c.3180 p.A1060 1 NULL HMMSmart_SM00249 - no_errors MCAT 27349 genome.wustl.edu 36 22 41863110 41863110 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 41863110 41863110 G T SNP MCAT NM_173467 human genbank 54_36p -1 reviewed missense c.650 p.S217Y 0.04 "superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase" "superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,PatternScan_ABC_TRANSPORTER_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase" - no_errors SCUBE1 80274 genome.wustl.edu 36 22 41944370 41944370 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 41944370 41944370 G A SNP SCUBE1 NM_173050 human genbank 54_36p -1 validated nonsense c.1726 p.Q576* 1 NULL "PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF,HMMSmart_EGF,superfamily_Grow_fac_recept,HMMPfam_GCC2_GCC3,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB" - no_errors EFCAB6 64800 genome.wustl.edu 36 22 42353774 42353774 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 42353774 42353774 C T SNP EFCAB6 NM_022785 human genbank 54_36p -1 validated missense c.2351 p.R784H 0.73 superfamily_EF-hand "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_DUF1880" - no_errors KIAA1644 85352 genome.wustl.edu 36 22 43024013 43024013 + Silent SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 43024013 43024013 C T SNP KIAA1644 NM_001099294 human genbank 54_36p -1 predicted silent c.153 p.S51 0.89 NULL NULL - no_errors PHF21B 112885 genome.wustl.edu 36 22 43670621 43670621 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 43670621 43670621 C T SNP PHF21B NM_138415 human genbank 54_36p -1 validated missense c.838 p.A280T 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD" - no_errors PHF21B 112885 genome.wustl.edu 36 22 43691122 43691122 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 43691122 43691122 T G SNP PHF21B NM_138415 human genbank 54_36p -1 validated missense c.266 p.D89A 1 NULL "HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD" - no_errors SMC1B 27127 genome.wustl.edu 36 22 44168278 44168278 + Missense_Mutation SNP C A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 22 44168278 44168278 C A SNP SMC1B NM_148674 human genbank 54_36p -1 validated missense c.1445 p.S482I 0.99 "superfamily_SSF52540,HMMPfam_SMC_N,superfamily_SMC_hinge" "superfamily_SSF52540,HMMPfam_SMC_N,superfamily_SMC_hinge,HMMPfam_SMC_hinge" - no_errors FBLN1 2192 genome.wustl.edu 36 22 44293295 44293295 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 44293295 44293295 G A SNP FBLN1 NM_006486 human genbank 54_36p 1 reviewed missense c.149 p.C50Y 1 "HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1" "HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL" - no_errors PPARA 5465 genome.wustl.edu 36 22 44973117 44973117 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 44973117 44973117 G C SNP PPARA NM_001001928 human genbank 54_36p 1 reviewed missense c.173 p.G58A 0.17 NULL "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors PKDREJ 10343 genome.wustl.edu 36 22 45033730 45033730 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 45033730 45033730 T C SNP PKDREJ NM_006071 human genbank 54_36p -1 reviewed missense c.4154 p.N1385S 0 NULL "HMMPfam_REJ,HMMSmart_SM00303,HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors TTC38 55020 genome.wustl.edu 36 22 45056177 45056177 + Silent SNP G T T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 45056177 45056177 G T SNP TTC38 NM_017931 human genbank 54_36p 1 validated silent c.633 p.P211 0.21 superfamily_SSF48452 superfamily_SSF48452 - no_errors TRMU 55687 genome.wustl.edu 36 22 45121059 45121059 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 45121059 45121059 T G SNP TRMU NM_018006 human genbank 54_36p 1 reviewed silent c.432 p.V144 0 "superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_tRNA_Me_trans" "superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_tRNA_Me_trans" - no_errors GRAMD4 23151 genome.wustl.edu 36 22 45401479 45401479 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 45401479 45401479 T A SNP GRAMD4 NM_015124 human genbank 54_36p 1 validated missense c.119 p.V40E 0.26 NULL "HMMPfam_GRAM,HMMSmart_SM00568" - no_errors ZBED4 9889 genome.wustl.edu 36 22 48665385 48665385 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 48665385 48665385 C A SNP ZBED4 NM_014838 human genbank 54_36p 1 validated missense c.2071 p.Q691K 1 NULL "HMMSmart_SM00614,HMMPfam_zf-BED,HMMPfam_hATC" - no_errors TTLL8 164714 genome.wustl.edu 36 22 48821802 48821802 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 48821802 48821802 T C SNP TTLL8 NM_001080447 human genbank 54_36p -1 provisional missense c.862 p.I288V 0 HMMPfam_TTL "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors MOV10L1 54456 genome.wustl.edu 36 22 48906086 48906086 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 48906086 48906086 G T SNP MOV10L1 NM_018995 human genbank 54_36p 1 reviewed missense c.1708 p.V570F 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors PLXNB2 23654 genome.wustl.edu 36 22 49063643 49063643 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 49063643 49063643 C A SNP PLXNB2 NM_012401 human genbank 54_36p -1 validated missense c.2779 p.D927Y 0.72 "superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors CPT1B 1375 genome.wustl.edu 36 22 49358237 49358237 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 49358237 49358237 C T SNP CPT1B NM_004377 human genbank 54_36p -1 reviewed missense c.1285 p.D429N 0.81 "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf" "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2" - no_errors ENSG00000223116 0 genome.wustl.edu 36 13 22450013 22450013 + RNA SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 22450013 22450013 C T SNP ENSG00000223116 ENST00000411184 human ensembl 54_36p -1 novel rna NULL NULL 0 - - - no_errors SNORD116-2 100033414 genome.wustl.edu 36 15 22850526 22850526 + RNA SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 22850526 22850526 C A SNP SNORD116-2 NR_003317 human genbank 54_36p 1 provisional rna NULL NULL 0.07 - - - no_errors SNORD116-20 100033431 genome.wustl.edu 36 15 22883990 22883990 + RNA SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 22883990 22883990 G T SNP SNORD116-20 NR_003334 human genbank 54_36p 1 provisional rna NULL NULL 0.36 - - - no_errors LOC100128853 100128853 genome.wustl.edu 36 19 23467522 23467522 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 23467522 23467522 C A SNP LOC100128853 XM_001726893 human genbank 54_36p -1 model missense c.496 p.A166S 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - pseudogene LOC100128853 100128853 genome.wustl.edu 36 19 23467859 23467859 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 23467859 23467859 T A SNP LOC100128853 XM_001726893 human genbank 54_36p -1 model missense c.159 p.K53N 0.13 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - pseudogene LOC100130746 100130746 genome.wustl.edu 36 5 24206973 24206973 + RNA SNP T T A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 24206973 24206973 T A SNP LOC100130746 XR_038810 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC100130746 100130746 genome.wustl.edu 36 5 24207131 24207131 + RNA SNP T T G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 24207131 24207131 T G SNP LOC100130746 XR_038810 human genbank 54_36p 1 model rna NULL NULL 0.93 - - - pseudogene LOC100129306 100129306 genome.wustl.edu 36 13 26489838 26489838 + Silent SNP A A G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 26489838 26489838 A G SNP LOC100129306 XM_001719801 human genbank 54_36p -1 model silent c.138 p.C46 1 "HMMPfam_Ribosomal_S10,superfamily_Ribosomal protein S10" "HMMPfam_Ribosomal_S10,superfamily_Ribosomal protein S10" - pseudogene ENSG00000215548 0 genome.wustl.edu 36 20 28226046 28226046 + Missense_Mutation SNP A C C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 28226046 28226046 A C SNP ENSG00000215548 ENST00000358464 human ensembl 54_36p 1 known missense c.155 p.Q52P 0.09 NULL NULL - no_stop_codon LOC100131223 100131223 genome.wustl.edu 36 1 28320341 28320341 + RNA SNP C C A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28320341 28320341 C A SNP LOC100131223 XR_039190 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene OR2J1 442185 genome.wustl.edu 36 6 29177624 29177624 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29177624 29177624 A T SNP OR2J1 ENST00000377171 human ensembl 54_36p 1 known missense c.926 p.E309V 0.01 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PSIMCT-1 100101490 genome.wustl.edu 36 20 29599124 29599124 + RNA SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 29599124 29599124 G C SNP PSIMCT-1 NR_003677 human genbank 54_36p 1 validated rna NULL NULL 1 - - - pseudogene LOC100133224 100133224 genome.wustl.edu 36 22 29882241 29882241 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 29882241 29882241 C T SNP LOC100133224 XM_001716151 human genbank 54_36p -1 model missense c.826 p.V276I 0.99 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors DCBLD2 131566 genome.wustl.edu 36 3 100051033 100051033 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 100051033 100051033 C A SNP DCBLD2 NM_080927 human genbank 54_36p -1 validated missense c.533 p.R178L 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1" - no_errors FANCD2 2177 genome.wustl.edu 36 3 10081040 10081040 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 10081040 10081040 G T SNP FANCD2 NM_033084 human genbank 54_36p 1 reviewed nonsense c.1948 p.E650* 1 NULL NULL - no_errors GPR128 84873 genome.wustl.edu 36 3 101851320 101851320 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 101851320 101851320 T A SNP GPR128 NM_032787 human genbank 54_36p 1 provisional missense c.1358 p.V453D 0.3 HMMPfam_7tm_2 "PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2" - no_errors GPR128 84873 genome.wustl.edu 36 3 101856536 101856536 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 101856536 101856536 C A SNP GPR128 NM_032787 human genbank 54_36p 1 provisional missense c.1547 p.T516K 0 HMMPfam_7tm_2 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR128 84873 genome.wustl.edu 36 3 101896480 101896480 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 101896480 101896480 C T SNP GPR128 NM_032787 human genbank 54_36p 1 provisional missense c.2339 p.P780L 0 NULL "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors ABI3BP 25890 genome.wustl.edu 36 3 102049161 102049161 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 102049161 102049161 G T SNP ABI3BP NM_015429 human genbank 54_36p -1 validated missense c.1497 p.S499R 0.1 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ABI3BP 25890 genome.wustl.edu 36 3 102087731 102087731 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 102087731 102087731 G C SNP ABI3BP NM_015429 human genbank 54_36p -1 validated missense c.609 p.D203E 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" - no_errors IRAK2 3656 genome.wustl.edu 36 3 10229964 10229964 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 10229964 10229964 C T SNP IRAK2 NM_001570 human genbank 54_36p 1 reviewed missense c.602 p.A201V 0 superfamily_Kinase_like "PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_ATP,superfamily_DEATH_like,HMMPfam_Death,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors SENP7 57337 genome.wustl.edu 36 3 102563275 102563275 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 102563275 102563275 T A SNP SENP7 NM_020654 human genbank 54_36p -1 validated nonsense c.1597 p.K533* 1 NULL "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48" - no_errors RG9MTD1 54931 genome.wustl.edu 36 3 102767100 102767100 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 102767100 102767100 A G SNP RG9MTD1 NM_017819 human genbank 54_36p 1 provisional missense c.785 p.Y262C 1 HMMPfam_tRNA_m1G_MT HMMPfam_tRNA_m1G_MT - no_errors LOC285359 285359 genome.wustl.edu 36 3 102914651 102914651 + RNA SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 102914651 102914651 A G SNP LOC285359 NR_002941 human genbank 54_36p 1 validated rna NULL NULL 1 - - - pseudogene CEP97 79598 genome.wustl.edu 36 3 102957073 102957073 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 102957073 102957073 C G SNP CEP97 NM_024548 human genbank 54_36p 1 provisional missense c.838 p.L280V 0.61 NULL "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMPfam_IQ" - no_errors NFKBIZ 64332 genome.wustl.edu 36 3 103057266 103057266 + Splice_Site SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 103057266 103057266 G T SNP NFKBIZ NM_031419 human genbank 54_36p 1 reviewed splice_site c.1655-1 e9-1 1 - - - no_errors ATP2B2 491 genome.wustl.edu 36 3 10345704 10345704 + Nonsense_Mutation SNP C A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 10345704 10345704 C A SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed nonsense c.3526 p.E1176* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ZPLD1 131368 genome.wustl.edu 36 3 103670511 103670511 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 103670511 103670511 C A SNP ZPLD1 NM_175056 human genbank 54_36p 1 provisional missense c.823 p.P275T 1 "HMMPfam_Zona_pellucida,HMMSmart_ZP" "HMMPfam_Zona_pellucida,HMMSmart_ZP" - no_errors ALCAM 214 genome.wustl.edu 36 3 106751664 106751664 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 106751664 106751664 G C SNP ALCAM NM_001627 human genbank 54_36p 1 validated missense c.1378 p.E460Q 1 "superfamily_Immunoglobulin,HMMSmart_SM00408" "HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors CBLB 868 genome.wustl.edu 36 3 106880050 106880050 + Silent SNP T T G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 106880050 106880050 T G SNP CBLB NM_170662 human genbank 54_36p -1 validated silent c.2484 p.A828 1 NULL "HMMPfam_Cbl_N,superfamily_N-terminal domain of cbl (N-cbl),HMMPfam_Cbl_N2,superfamily_EF-hand,HMMPfam_Cbl_N3,superfamily_SH2 domain,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_UBA,HMMSmart_SM00165" - no_errors CBLB 868 genome.wustl.edu 36 3 106921653 106921653 + Silent SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 106921653 106921653 C T SNP CBLB NM_170662 human genbank 54_36p -1 validated silent c.1335 p.P445 0.75 NULL "HMMPfam_UBA,HMMSmart_SM00184,HMMPfam_Cbl_N,superfamily_N-terminal domain of cbl (N-cbl),HMMPfam_Cbl_N2,HMMPfam_Cbl_N3,HMMSmart_SM00165,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_EF-hand,superfamily_SH2 domain,superfamily_RING/U-box" - no_errors SLC6A11 6538 genome.wustl.edu 36 3 10891711 10891711 + Silent SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 10891711 10891711 G A SNP SLC6A11 NM_014229 human genbank 54_36p 1 provisional silent c.822 p.T274 0.82 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors IFT57 55081 genome.wustl.edu 36 3 109415503 109415503 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 109415503 109415503 C T SNP IFT57 NM_018010 human genbank 54_36p -1 validated missense c.550 p.E184K 1 HMMPfam_IFT57 HMMPfam_IFT57 - no_errors MYH15 22989 genome.wustl.edu 36 3 109612336 109612336 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 109612336 109612336 C T SNP MYH15 NM_014981 human genbank 54_36p -1 validated missense c.4339 p.V1447I 0.88 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat" - no_errors MYH15 22989 genome.wustl.edu 36 3 109678039 109678039 + Silent SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 109678039 109678039 A T SNP MYH15 NM_014981 human genbank 54_36p -1 validated silent c.1188 p.A396 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH15 22989 genome.wustl.edu 36 3 109688056 109688056 + Silent SNP G G C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 109688056 109688056 G C SNP MYH15 NM_014981 human genbank 54_36p -1 validated silent c.939 p.L313 0.97 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MORC1 27136 genome.wustl.edu 36 3 110256413 110256413 + Silent SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 110256413 110256413 G A SNP MORC1 NM_014429 human genbank 54_36p -1 reviewed silent c.1182 p.G394 1 NULL "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMPfam_zf-CW" - no_errors DPPA2 151871 genome.wustl.edu 36 3 110509627 110509627 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 110509627 110509627 C T SNP DPPA2 NM_138815 human genbank 54_36p -1 provisional silent c.600 p.K200 0.01 NULL HMMSmart_SAP - no_errors PHLDB2 90102 genome.wustl.edu 36 3 113086793 113086793 + Silent SNP A A T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 113086793 113086793 A T SNP PHLDB2 NM_145753 human genbank 54_36p 1 validated silent c.1179 p.A393 0.3 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors PHLDB2 90102 genome.wustl.edu 36 3 113155498 113155498 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 113155498 113155498 G A SNP PHLDB2 NM_145753 human genbank 54_36p 1 validated missense c.2675 p.C892Y 1 NULL "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors SLC9A10 285335 genome.wustl.edu 36 3 113471528 113471528 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 113471528 113471528 T A SNP SLC9A10 NM_183061 human genbank 54_36p -1 validated missense c.700 p.M234L 0.82 HMMPfam_Na_H_Exchanger "HMMPfam_cNMP_binding,HMMPfam_Ion_trans,HMMPfam_Na_H_Exchanger,superfamily_cAMP-binding domain-like,PatternScan_WD_REPEATS_1,superfamily_Voltage-gated potassium channels" - no_errors ATG3 64422 genome.wustl.edu 36 3 113735828 113735828 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 113735828 113735828 C A SNP ATG3 NM_022488 human genbank 54_36p -1 provisional missense c.841 p.G281W 1 NULL "HMMPfam_Autophagy_N,HMMPfam_Autophagy_act_C,HMMPfam_Autophagy_Cterm" - no_errors CCDC80 151887 genome.wustl.edu 36 3 113831719 113831719 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 113831719 113831719 T G SNP CCDC80 NM_199511 human genbank 54_36p -1 validated missense c.1966 p.K656Q 1 NULL NULL - no_errors CD200R1L 344807 genome.wustl.edu 36 3 114028930 114028930 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 114028930 114028930 T C SNP CD200R1L NM_001008784 human genbank 54_36p -1 validated missense c.404 p.H135R 0 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors SIDT1 54847 genome.wustl.edu 36 3 114769133 114769133 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 114769133 114769133 C T SNP SIDT1 NM_017699 human genbank 54_36p 1 validated missense c.401 p.A134V 0.99 NULL NULL - no_errors SIDT1 54847 genome.wustl.edu 36 3 114812567 114812567 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 114812567 114812567 C T SNP SIDT1 NM_017699 human genbank 54_36p 1 validated silent c.1743 p.I581 1 NULL NULL - no_errors ZDHHC23 254887 genome.wustl.edu 36 3 115157899 115157899 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 115157899 115157899 C G SNP ZDHHC23 NM_173570 human genbank 54_36p 1 validated nonsense c.896 p.S299* 1 HMMPfam_zf-DHHC HMMPfam_zf-DHHC - no_errors KIAA1407 57577 genome.wustl.edu 36 3 115220328 115220328 + Silent SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 115220328 115220328 C A SNP KIAA1407 NM_020817 human genbank 54_36p -1 predicted silent c.1050 p.L350 1 NULL NULL - no_errors KIAA1407 57577 genome.wustl.edu 36 3 115236543 115236543 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 115236543 115236543 T A SNP KIAA1407 NM_020817 human genbank 54_36p -1 predicted missense c.737 p.E246V 1 NULL NULL - no_errors DRD3 1814 genome.wustl.edu 36 3 115373432 115373432 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 115373432 115373432 G T SNP DRD3 NM_000796 human genbank 54_36p -1 reviewed missense c.98 p.A33D 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZBTB20 26137 genome.wustl.edu 36 3 115540682 115540682 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 115540682 115540682 G T SNP ZBTB20 NM_015642 human genbank 54_36p -1 provisional missense c.1867 p.P623T 0.98 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZBTB20 26137 genome.wustl.edu 36 3 115552108 115552108 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 115552108 115552108 C A SNP ZBTB20 NM_015642 human genbank 54_36p -1 provisional missense c.1288 p.A430S 1 NULL "HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors GAP43 2596 genome.wustl.edu 36 3 116922346 116922346 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 116922346 116922346 C T SNP GAP43 NM_002045 human genbank 54_36p 1 reviewed missense c.644 p.T215I 1 HMMPfam_Neuromodulin "PatternScan_NEUROMODULIN_1,HMMPfam_Neuromodulin_N,HMMSmart_SM00015,HMMPfam_IQ,PatternScan_NEUROMODULIN_2,HMMPfam_Neuromodulin" - no_errors ARHGAP31 57514 genome.wustl.edu 36 3 120615793 120615793 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 120615793 120615793 A C SNP CDGAP NM_020754 human genbank 54_36p 1 reviewed missense c.2327 p.N776T 0.02 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors TMEM39A 55254 genome.wustl.edu 36 3 120663521 120663521 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 120663521 120663521 T A SNP TMEM39A NM_018266 human genbank 54_36p -1 provisional missense c.91 p.N31Y 1 NULL HMMPfam_Tmp39 - no_errors POGLUT1 56983 genome.wustl.edu 36 3 120688369 120688369 + Splice_Site SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 120688369 120688369 G C SNP KTELC1 NM_152305 human genbank 54_36p 1 validated splice_site c.639-1 e7-1 1 - - - no_errors C3orf1 51300 genome.wustl.edu 36 3 120702256 120702256 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 120702256 120702256 C G SNP C3orf1 NM_016589 human genbank 54_36p 1 validated missense c.219 p.D73E 0.57 NULL NULL - no_errors ADPRH 141 genome.wustl.edu 36 3 120788176 120788176 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 120788176 120788176 A C SNP ADPRH NM_001125 human genbank 54_36p 1 reviewed missense c.653 p.Q218P 0.36 "superfamily_ADP-ribosylglycohydrolase,HMMPfam_ADP_ribosyl_GH" "superfamily_ADP-ribosylglycohydrolase,HMMPfam_ADP_ribosyl_GH" - no_errors PLA1A 51365 genome.wustl.edu 36 3 120826675 120826675 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 120826675 120826675 G T SNP PLA1A NM_015900 human genbank 54_36p 1 validated missense c.1027 p.V343L 1 NULL "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase,PatternScan_LIPASE_SER" - no_errors SYN2 6854 genome.wustl.edu 36 3 12186352 12186352 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 12186352 12186352 G T SNP SYN2 NM_133625 human genbank 54_36p 1 reviewed missense c.1250 p.C417F 0.97 NULL "HMMPfam_Synapsin_N,PatternScan_SYNAPSIN_1" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region STXBP5L 9515 genome.wustl.edu 36 3 122456552 122456552 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122456552 122456552 A G SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.1562 p.Y521C 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1,HMMPfam_WD40,HMMPfam_LLGL" - no_errors STXBP5L 9515 genome.wustl.edu 36 3 122619938 122619938 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122619938 122619938 T G SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.3363 p.S1121R 0.19 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors POLQ 10721 genome.wustl.edu 36 3 122669059 122669059 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122669059 122669059 G C SNP POLQ NM_199420 human genbank 54_36p -1 validated missense c.6964 p.P2322A 1 "superfamily_DNA/RNA polymerases,HMMPfam_DNA_pol_A,HMMSmart_SM00482" ############################################################################################################################################################################################################################################################### - no_errors POLQ 10721 genome.wustl.edu 36 3 122669852 122669852 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122669852 122669852 G A SNP POLQ NM_199420 human genbank 54_36p -1 validated missense c.6835 p.P2279S 0 "HMMPfam_DNA_pol_A,superfamily_DNA/RNA polymerases" ############################################################################################################################################################################################################################################################### - no_errors POLQ 10721 genome.wustl.edu 36 3 122690091 122690091 + Silent SNP T T A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122690091 122690091 T A SNP POLQ NM_199420 human genbank 54_36p -1 validated silent c.4377 p.I1459 0 NULL ############################################################################################################################################################################################################################################################### - no_errors POLQ 10721 genome.wustl.edu 36 3 122711226 122711226 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122711226 122711226 G C SNP POLQ NM_199420 human genbank 54_36p -1 validated missense c.1831 p.P611A 1 NULL ############################################################################################################################################################################################################################################################### - no_errors GSTM5P1 2945 genome.wustl.edu 36 3 12274643 12274643 + RNA SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 12274643 12274643 G T SNP GSTM1L NR_003112 human genbank 54_36p -1 provisional rna NULL NULL 0.99 - - - pseudogene FBXO40 51725 genome.wustl.edu 36 3 122824185 122824185 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122824185 122824185 G T SNP FBXO40 NM_016298 human genbank 54_36p 1 validated nonsense c.1219 p.E407* 1 NULL "superfamily_TRAF domain-like,superfamily_F-box domain,HMMPfam_F-box" - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122892521 122892521 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122892521 122892521 C T SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.8365 p.A2789T 0 NULL "superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340" - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122898250 122898250 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 122898250 122898250 T A SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.3795 p.E1265D 0 NULL "HMMSmart_SM00340,superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors CASR 846 genome.wustl.edu 36 3 123458629 123458629 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123458629 123458629 G A SNP CASR NM_000388 human genbank 54_36p 1 reviewed missense c.197 p.R66H 1 superfamily_Periplasmic binding protein-like I "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors CASR 846 genome.wustl.edu 36 3 123477396 123477396 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123477396 123477396 G C SNP CASR NM_000388 human genbank 54_36p 1 reviewed missense c.1425 p.E475D 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I" - no_errors FAM162A 26355 genome.wustl.edu 36 3 123605880 123605880 + Silent SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123605880 123605880 T C SNP FAM162A NM_014367 human genbank 54_36p 1 validated silent c.243 p.D81 0.93 HMMPfam_DUF1075 HMMPfam_DUF1075 - no_errors WDR5B 54554 genome.wustl.edu 36 3 123616204 123616204 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123616204 123616204 C G SNP WDR5B NM_019069 human genbank 54_36p -1 reviewed missense c.862 p.E288Q 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WDR5B 54554 genome.wustl.edu 36 3 123616346 123616346 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123616346 123616346 G T SNP WDR5B NM_019069 human genbank 54_36p -1 reviewed missense c.720 p.S240R 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors WDR5B 54554 genome.wustl.edu 36 3 123616506 123616506 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123616506 123616506 T C SNP WDR5B NM_019069 human genbank 54_36p -1 reviewed missense c.560 p.Y187C 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors PARP9 83666 genome.wustl.edu 36 3 123759921 123759921 + Silent SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123759921 123759921 G T SNP PARP9 NM_031458 human genbank 54_36p -1 provisional silent c.99 p.I33 0.3 NULL "superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors DTX3L 151636 genome.wustl.edu 36 3 123770675 123770675 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123770675 123770675 T A SNP DTX3L NM_138287 human genbank 54_36p 1 validated missense c.1049 p.I350N 0.98 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors DTX3L 151636 genome.wustl.edu 36 3 123770782 123770782 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123770782 123770782 A C SNP DTX3L NM_138287 human genbank 54_36p 1 validated missense c.1156 p.K386Q 0.3 NULL "HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors PARP14 54625 genome.wustl.edu 36 3 123919723 123919723 + Silent SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123919723 123919723 G T SNP PARP14 NM_017554 human genbank 54_36p 1 validated silent c.4116 p.L1372 0.99 superfamily_Macro domain-like "superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors SEMA5B 54437 genome.wustl.edu 36 3 124162677 124162677 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124162677 124162677 C A SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated missense c.124 p.G42C 0.1 NULL "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors PPARG 5468 genome.wustl.edu 36 3 12433478 12433478 + Silent SNP T T C novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 12433478 12433478 T C SNP PPARG NM_015869 human genbank 54_36p 1 reviewed silent c.1095 p.D365 0.98 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors PDIA5 10954 genome.wustl.edu 36 3 124362860 124362860 + Silent SNP T T A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124362860 124362860 T A SNP PDIA5 NM_006810 human genbank 54_36p 1 provisional silent c.1347 p.I449 0.98 "superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin" "superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1,PatternScan_ER_TARGET" - no_errors ADCY5 111 genome.wustl.edu 36 3 124491420 124491420 + Silent SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124491420 124491420 G A SNP ADCY5 NM_183357 human genbank 54_36p -1 validated silent c.3399 p.S1133 0.02 "HMMSmart_CYCc,HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase" "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors ADCY5 111 genome.wustl.edu 36 3 124492813 124492813 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124492813 124492813 C T SNP ADCY5 NM_183357 human genbank 54_36p -1 validated missense c.3164 p.R1055H 1 HMMSmart_CYCc "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors MYLK 4638 genome.wustl.edu 36 3 124831014 124831014 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124831014 124831014 A G SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.5111 p.M1704T 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors MYLK 4638 genome.wustl.edu 36 3 124909399 124909399 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124909399 124909399 A T SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.2282 p.L761H 0.04 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors KALRN 8997 genome.wustl.edu 36 3 125470766 125470766 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 125470766 125470766 C T SNP KALRN NM_001024660 human genbank 54_36p 1 reviewed missense c.937 p.R313W 1 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors KALRN 8997 genome.wustl.edu 36 3 125895955 125895955 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 125895955 125895955 C G SNP KALRN NM_001024660 human genbank 54_36p 1 reviewed missense c.7492 p.P2498A 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HEG1 57493 genome.wustl.edu 36 3 126215523 126215523 + Silent SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 126215523 126215523 G T SNP HEG1 NM_020733 human genbank 54_36p -1 validated silent c.1590 p.I530 0.12 NULL "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors SLC12A8 84561 genome.wustl.edu 36 3 126379494 126379494 + Silent SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 126379494 126379494 G T SNP SLC12A8 NM_024628 human genbank 54_36p -1 validated silent c.405 p.A135 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors SLC12A8 84561 genome.wustl.edu 36 3 126392010 126392010 + Missense_Mutation SNP T G G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 126392010 126392010 T G SNP SLC12A8 NM_024628 human genbank 54_36p -1 validated missense c.97 p.M33L 1 NULL HMMPfam_AA_permease - no_errors SNX4 8723 genome.wustl.edu 36 3 126678292 126678292 + Splice_Site SNP T T A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 126678292 126678292 T A SNP SNX4 NM_003794 human genbank 54_36p -1 reviewed splice_site c.727-2 e8-2 1 - - - no_errors ZXDC 79364 genome.wustl.edu 36 3 127673755 127673755 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 127673755 127673755 A G SNP ZXDC NM_025112 human genbank 54_36p -1 validated missense c.991 p.S331P 1 "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1" - no_errors UROC1 131669 genome.wustl.edu 36 3 127703408 127703408 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 127703408 127703408 A G SNP UROC1 ENST00000383579 human ensembl 54_36p -1 known missense c.1009 p.S337P 0.01 HMMPfam_Urocanase "superfamily_Urocanase,HMMPfam_Urocanase,PatternScan_UROCANASE" - no_start_codon KRT18P17 344866 genome.wustl.edu 36 3 12804345 12804345 + RNA SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 12804345 12804345 C T SNP KRT18P17 XR_016516 human genbank 54_36p -1 model rna NULL NULL 0.48 - - - pseudogene RPL32 6161 genome.wustl.edu 36 3 12855849 12855849 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 12855849 12855849 T A SNP RPL32 NM_000994 human genbank 54_36p -1 reviewed nonsense c.277 p.K93* 1 "superfamily_Ribosomal protein L32e,HMMPfam_Ribosomal_L32e" "superfamily_Ribosomal protein L32e,HMMPfam_Ribosomal_L32e,PatternScan_RIBOSOMAL_L32E" - no_errors KBTBD12 166348 genome.wustl.edu 36 3 129164900 129164900 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 129164900 129164900 C T SNP KLHDC6 NM_207335 human genbank 54_36p 1 validated silent c.1671 p.C557 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors RPN1 6184 genome.wustl.edu 36 3 129833537 129833538 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 - - - T - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 129833537 129833538 - T INS RPN1 NM_002950 human genbank 54_36p -1 reviewed frame_shift_ins c.787_786 p.R262fs 0.994:0.921 HMMPfam_Ribophorin_I HMMPfam_Ribophorin_I - no_errors ACAD9 28976 genome.wustl.edu 36 3 130107783 130107794 + Splice_Site DEL GTGAGTGGCCCC GTGAGTGGCCCC - novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 GTGAGTGGCCCC GTGAGTGGCCCC GTGAGTGGCCCC - GTGAGTGGCCCC GTGAGTGGCCCC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 130107783 130107794 GTGAGTGGCCCC - DEL ACAD9 NM_014049 human genbank 54_36p 1 validated splice_site_del c.1278+1_1278+1 e12+1 1.000:1.000:0.997:0.997:0.990:0.661:0.074:0.001:0.002:0.006:0.000:0.000 - - "(deletion:intron[130107783,130109717])" no_errors COPG 22820 genome.wustl.edu 36 3 130453815 130453815 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 130453815 130453815 C T SNP COPG NM_016128 human genbank 54_36p 1 validated missense c.92 p.A31V 1 "superfamily_ARM repeat,HMMPfam_Adaptin_N" "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Gamma-COP,superfamily_Subdomain of clathrin and coatomer appendage domain" - no_errors C3orf25 90288 genome.wustl.edu 36 3 130623314 130623314 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 130623314 130623314 G A SNP C3orf25 NM_207307 human genbank 54_36p -1 predicted silent c.72 p.P24 0 NULL "PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors PIK3R4 30849 genome.wustl.edu 36 3 131887939 131887939 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 131887939 131887939 T G SNP PIK3R4 NM_014602 human genbank 54_36p -1 validated missense c.3281 p.E1094A 1 superfamily_WD40_like "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM-type_fold,HMMPfam_HEAT,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ACPP 55 genome.wustl.edu 36 3 133558249 133558269 + In_Frame_Del DEL ATGAGACGCAGCACGAGCCGT ATGAGACGCAGCACGAGCCGT - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 ATGAGACGCAGCACGAGCCGT ATGAGACGCAGCACGAGCCGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 133558249 133558269 ATGAGACGCAGCACGAGCCGT - DEL ACPP NM_001099 human genbank 54_36p 1 reviewed in_frame_del c.998_1018 p.ETQHEPY334in_frame_del 0.994:0.951:0.952:0.942:0.840:0.749:0.683:0.000:0.001:0.000:0.001:0.000:0.001:0.001:0.023:0.021:0.012:0.021:0.016:0.000:0.000 superfamily_Phosphoglycerate mutase-like "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1,PatternScan_HIS_ACID_PHOSPHAT_2" "(deletion:cds_exon[133558220,133558412])" no_errors ACPP 55 genome.wustl.edu 36 3 133558366 133558366 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 133558366 133558366 G T SNP ACPP NM_001099 human genbank 54_36p 1 reviewed missense c.1115 p.C372F 0.98 superfamily_Phosphoglycerate mutase-like "HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1,PatternScan_HIS_ACID_PHOSPHAT_2,superfamily_Phosphoglycerate mutase-like" - no_errors TMEM108 66000 genome.wustl.edu 36 3 134582107 134582107 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 134582107 134582107 G A SNP TMEM108 NM_023943 human genbank 54_36p 1 validated missense c.862 p.G288S 0.01 NULL PatternScan_TONB_DEPENDENT_REC_1 - no_errors TMEM108 66000 genome.wustl.edu 36 3 134582534 134582534 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 134582534 134582534 T A SNP TMEM108 NM_023943 human genbank 54_36p 1 validated missense c.1289 p.L430H 1 NULL PatternScan_TONB_DEPENDENT_REC_1 - no_errors TOPBP1 11073 genome.wustl.edu 36 3 134845592 134845592 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 134845592 134845592 C T SNP TOPBP1 NM_007027 human genbank 54_36p -1 reviewed missense c.1549 p.E517K 1 "HMMPfam_BRCT,HMMSmart_BRCT" "superfamily_BRCT,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_Secretoglobin" - no_errors C3orf36 80111 genome.wustl.edu 36 3 135130178 135130178 + Silent SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 135130178 135130178 T G SNP C3orf36 NM_025041 human genbank 54_36p -1 validated silent c.160 p.R54 0.01 NULL NULL - no_errors HDAC11 79885 genome.wustl.edu 36 3 13520660 13520660 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 13520660 13520660 A T SNP HDAC11 ENST00000383796 human ensembl 54_36p 1 known nonsense c.673 p.R225* 1 NULL "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" - no_errors RYK 6259 genome.wustl.edu 36 3 135390442 135390442 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 135390442 135390442 A G SNP RYK ENST00000296084 human ensembl 54_36p -1 known missense c.1034 p.I345T 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" "HMMSmart_SM00469,HMMPfam_WIF,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR" - no_start_codon CEP63 80254 genome.wustl.edu 36 3 135738746 135738746 + Silent SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 135738746 135738746 A T SNP CEP63 NM_025180 human genbank 54_36p 1 reviewed silent c.501 p.V167 1 NULL NULL - no_errors KY 339855 genome.wustl.edu 36 3 135805662 135805662 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 135805662 135805662 G A SNP KY NM_178554 human genbank 54_36p -1 validated missense c.1435 p.R479C 1 NULL "superfamily_Cysteine proteinases,HMMPfam_Transglut_core,HMMSmart_SM00460" - no_errors FBLN2 2199 genome.wustl.edu 36 3 13654167 13654167 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 13654167 13654167 C A SNP FBLN2 NM_001004019 human genbank 54_36p 1 reviewed nonsense c.3444 p.C1148* 0.99 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region STAG1 10274 genome.wustl.edu 36 3 137550738 137550738 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 137550738 137550738 C G SNP STAG1 NM_005862 human genbank 54_36p -1 reviewed missense c.3223 p.V1075L 1 NULL "superfamily_ARM-type_fold,HMMPfam_STAG" - no_errors CLDN18 51208 genome.wustl.edu 36 3 139225207 139225207 + Silent SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 139225207 139225207 C A SNP CLDN18 NM_001002026 human genbank 54_36p 1 validated silent c.238 p.R80 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors DZIP1L 199221 genome.wustl.edu 36 3 139305138 139305138 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 139305138 139305138 C G SNP DZIP1L NM_173543 human genbank 54_36p -1 provisional missense c.366 p.Q122H 0.79 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MRAS 22808 genome.wustl.edu 36 3 139600060 139600060 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 139600060 139600060 T G SNP MRAS NM_001085049 human genbank 54_36p 1 validated missense c.407 p.I136S 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors PIK3CB 5291 genome.wustl.edu 36 3 139906020 139906020 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 139906020 139906020 A C SNP PIK3CB NM_006219 human genbank 54_36p -1 provisional missense c.1536 p.I512M 1 superfamily_ARM-type_fold ############################################################################################################################################################################################################################################################### - no_errors MRPS22 56945 genome.wustl.edu 36 3 140548472 140548472 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 140548472 140548472 C G SNP MRPS22 NM_020191 human genbank 54_36p 1 reviewed missense c.235 p.L79V 0.99 HMMPfam_MRP-S22 HMMPfam_MRP-S22 - no_errors COPB2 9276 genome.wustl.edu 36 3 140559794 140559794 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 140559794 140559794 C T SNP COPB2 NM_004766 human genbank 54_36p -1 validated missense c.2563 p.G855R 0.9 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,superfamily_Amine_DH_B_like,HMMPfam_Coatomer_WDAD" - no_errors TMEM43 79188 genome.wustl.edu 36 3 14158264 14158264 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 14158264 14158264 C T SNP TMEM43 NM_024334 human genbank 54_36p 1 reviewed missense c.1171 p.R391W 0.75 NULL HMMPfam_DUF1625 - no_errors XPC 7508 genome.wustl.edu 36 3 14186991 14186991 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 14186991 14186991 G T SNP XPC ENST00000285021 human ensembl 54_36p -1 known missense c.363 p.D121E 0.01 NULL "HMMPfam_Rad4,HMMPfam_BHD_1,HMMPfam_BHD_2,HMMPfam_BHD_3" - no_errors LSM3 27258 genome.wustl.edu 36 3 14214608 14214608 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 14214608 14214608 G T SNP LSM3 NM_014463 human genbank 54_36p 1 validated silent c.297 p.L99 0.87 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors ZBTB38 253461 genome.wustl.edu 36 3 142645875 142645875 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 142645875 142645875 G A SNP ZBTB38 NM_001080412 human genbank 54_36p 1 validated missense c.1955 p.G652D 0 NULL "HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZBTB38 253461 genome.wustl.edu 36 3 142647243 142647243 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 142647243 142647243 C A SNP ZBTB38 NM_001080412 human genbank 54_36p 1 validated missense c.3323 p.T1108N 1 "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors RASA2 5922 genome.wustl.edu 36 3 142713785 142713785 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 142713785 142713785 G A SNP RASA2 NM_006506 human genbank 54_36p 1 reviewed missense c.224 p.R75H 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK" - no_errors RASA2 5922 genome.wustl.edu 36 3 142731291 142731291 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 142731291 142731291 C G SNP RASA2 NM_006506 human genbank 54_36p 1 reviewed missense c.407 p.T136S 1 "HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,HMMPfam_BTK,HMMSmart_BTK,HMMPfam_PH,HMMSmart_PH,HMMPfam_RasGAP,HMMSmart_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_Rho_GAP,superfamily_C2_CaLB,superfamily_SSF50729" - no_errors ATR 545 genome.wustl.edu 36 3 143663531 143663531 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 143663531 143663531 T A SNP ATR NM_001184 human genbank 54_36p -1 reviewed missense c.7133 p.E2378V 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146" "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_UME,HMMSmart_SM00802,superfamily_TPR-like,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors ATR 545 genome.wustl.edu 36 3 143686726 143686726 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 143686726 143686726 T A SNP ATR NM_001184 human genbank 54_36p -1 reviewed missense c.6167 p.N2056I 1 "HMMPfam_FAT,superfamily_ARM repeat" "HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),HMMPfam_UME,HMMSmart_SM00802,superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2,superfamily_TPR-like" - no_errors TRPC1 7220 genome.wustl.edu 36 3 143994491 143994491 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 143994491 143994491 C T SNP TRPC1 NM_003304 human genbank 54_36p 1 validated missense c.1471 p.P491S 1 HMMPfam_Ion_trans "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans" - no_errors TRPC1 7220 genome.wustl.edu 36 3 144005548 144005548 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 144005548 144005548 C A SNP TRPC1 NM_003304 human genbank 54_36p 1 validated missense c.1695 p.F565L 1 HMMPfam_Ion_trans "HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2" - no_errors PCOLCE2 26577 genome.wustl.edu 36 3 144044538 144044538 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 144044538 144044538 G T SNP PCOLCE2 NM_013363 human genbank 54_36p -1 provisional missense c.491 p.S164Y 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_ABC_TRANSPORTER_1,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" - no_errors SR140 23350 genome.wustl.edu 36 3 144239734 144239746 + Splice_Site DEL GGGTGAGTAAAAG GGGTGAGTAAAAG - novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 GGGTGAGTAAAAG GGGTGAGTAAAAG GGGTGAGTAAAAG - GGGTGAGTAAAAG GGGTGAGTAAAAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 144239734 144239746 GGGTGAGTAAAAG - DEL SR140 NM_001080415 human genbank 54_36p 1 provisional splice_site_del c.2316_2317 p.Q772fs 1.000:1.000 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,superfamily_ENTH/VHS domain,HMMSmart_SM00582" "(deletion:cds_exon[144239640,144239735], intron[144239736,144240425])" no_errors LOC645515 645515 genome.wustl.edu 36 3 144719058 144719058 + RNA SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 144719058 144719058 C T SNP LOC645515 XR_017588 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC645515 645515 genome.wustl.edu 36 3 144719428 144719428 + RNA SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 144719428 144719428 C A SNP LOC645515 XR_017588 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene SLC6A6 6533 genome.wustl.edu 36 3 14498336 14498336 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 14498336 14498336 G C SNP SLC6A6 NM_003043 human genbank 54_36p 1 validated missense c.1705 p.E569Q 0.66 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLC9A9 285195 genome.wustl.edu 36 3 144998431 144998431 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 144998431 144998431 G A SNP SLC9A9 NM_173653 human genbank 54_36p -1 validated missense c.383 p.T128I 1 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors C3orf58 205428 genome.wustl.edu 36 3 145187105 145187105 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 145187105 145187105 G C SNP C3orf58 NM_173552 human genbank 54_36p 1 validated missense c.688 p.A230P 1 NULL NULL - no_errors LOC389156 389156 genome.wustl.edu 36 3 147025134 147025134 + RNA SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 147025134 147025134 G A SNP LOC389156 XR_017589 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene FGD5 152273 genome.wustl.edu 36 3 14836828 14836828 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 14836828 14836828 G A SNP FGD5 NM_152536 human genbank 54_36p 1 validated missense c.523 p.V175M 0 NULL "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF,PatternScan_C_TYPE_LECTIN_1" - no_errors FGD5 152273 genome.wustl.edu 36 3 14935265 14935265 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 14935265 14935265 G A SNP FGD5 NM_152536 human genbank 54_36p 1 validated missense c.2767 p.V923I 1 "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_FYVE,HMMSmart_FYVE,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF50729" - no_errors CPB1 1360 genome.wustl.edu 36 3 150041432 150041432 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 150041432 150041432 C T SNP CPB1 NM_001871 human genbank 54_36p 1 reviewed missense c.454 p.R152C 0.96 "superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2" - no_errors GYG1 2992 genome.wustl.edu 36 3 150197238 150197238 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 150197238 150197238 A T SNP GYG1 NM_004130 human genbank 54_36p 1 provisional missense c.338 p.D113V 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" - no_errors HPS3 84343 genome.wustl.edu 36 3 150360541 150360541 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 150360541 150360541 G T SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed missense c.1891 p.V631F 0.05 NULL NULL - no_errors HPS3 84343 genome.wustl.edu 36 3 150360617 150360617 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 150360617 150360617 C T SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed missense c.1967 p.P656L 0.58 NULL NULL - no_errors HPS3 84343 genome.wustl.edu 36 3 150368384 150368384 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 150368384 150368384 A C SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed missense c.2811 p.K937N 1 NULL NULL - no_errors CP 1356 genome.wustl.edu 36 3 150413013 150413013 + Silent SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 150413013 150413013 A G SNP CP NM_000096 human genbank 54_36p -1 reviewed silent c.309 p.D103 0.04 "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3" "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2" - no_errors P2RY13 53829 genome.wustl.edu 36 3 152528599 152528599 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152528599 152528599 A G SNP P2RY13 NM_176894 human genbank 54_36p -1 reviewed missense c.872 p.M291T 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors P2RY13 53829 genome.wustl.edu 36 3 152528881 152528881 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152528881 152528881 C A SNP P2RY13 NM_176894 human genbank 54_36p -1 reviewed missense c.590 p.W197L 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors P2RY13 53829 genome.wustl.edu 36 3 152528886 152528886 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152528886 152528886 A C SNP P2RY13 NM_176894 human genbank 54_36p -1 reviewed missense c.585 p.I195M 0.73 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MED12L 116931 genome.wustl.edu 36 3 152550663 152550663 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152550663 152550663 A G SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.2272 p.K758E 1 NULL HMMPfam_Med12 - no_errors MED12L 116931 genome.wustl.edu 36 3 152560983 152560983 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152560983 152560983 C T SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.2752 p.P918S 1 NULL HMMPfam_Med12 - no_errors MED12L 116931 genome.wustl.edu 36 3 152588413 152588413 + Silent SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152588413 152588413 C T SNP MED12L NM_053002 human genbank 54_36p 1 validated silent c.5109 p.Y1703 0.97 NULL HMMPfam_Med12 - no_errors MED12L 116931 genome.wustl.edu 36 3 152613672 152613672 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152613672 152613672 G T SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.6091 p.V2031L 0.87 NULL HMMPfam_Med12 - no_errors IGSF10 285313 genome.wustl.edu 36 3 152647214 152647214 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 152647214 152647214 G C SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.3245 p.P1082R 0.02 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_I-set,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_ig" - no_errors MBNL1 4154 genome.wustl.edu 36 3 153500755 153500755 + Nonsense_Mutation SNP C G G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 153500755 153500755 C G SNP MBNL1 NM_207293 human genbank 54_36p 1 validated nonsense c.83 p.S28* 1 "HMMPfam_zf-CCCH,HMMSmart_SM00356" "HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger" - no_errors GPR149 344758 genome.wustl.edu 36 3 155538219 155538219 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 155538219 155538219 G A SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.2159 p.A720V 1 NULL NULL - no_errors GPR149 344758 genome.wustl.edu 36 3 155629157 155629157 + Silent SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 155629157 155629157 G T SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional silent c.942 p.I314 1 NULL NULL - no_errors GPR149 344758 genome.wustl.edu 36 3 155629297 155629297 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 155629297 155629297 A C SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.802 p.S268A 0.03 NULL NULL - no_errors GPR149 344758 genome.wustl.edu 36 3 155629513 155629513 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 155629513 155629513 T C SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.586 p.I196V 0.01 NULL NULL - no_errors MME 4311 genome.wustl.edu 36 3 156317412 156317412 + Silent SNP C C G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 156317412 156317412 C G SNP MME NM_000902 human genbank 54_36p 1 reviewed silent c.597 p.V199 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors SLC33A1 9197 genome.wustl.edu 36 3 157042984 157042984 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 157042984 157042984 G A SNP SLC33A1 NM_004733 human genbank 54_36p -1 reviewed silent c.894 p.Y298 1 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors GMPS 8833 genome.wustl.edu 36 3 157136889 157136889 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 157136889 157136889 C T SNP GMPS NM_003875 human genbank 54_36p 1 reviewed nonsense c.1876 p.Q626* 1 "HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain" "superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_ExsB,HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain" - no_errors LOC389168 389168 genome.wustl.edu 36 3 157187939 157187939 + RNA SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 157187939 157187939 A T SNP LOC389168 XR_017613 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC389168 389168 genome.wustl.edu 36 3 157188591 157188591 + RNA SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 157188591 157188591 G A SNP LOC389168 XR_017613 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene KCNAB1 7881 genome.wustl.edu 36 3 157321283 157321283 + Silent SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 157321283 157321283 G T SNP KCNAB1 NM_172160 human genbank 54_36p 1 reviewed silent c.189 p.L63 0.98 NULL "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" - no_errors KCNAB1 7881 genome.wustl.edu 36 3 157492603 157492603 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 157492603 157492603 G A SNP KCNAB1 NM_172159 human genbank 54_36p 1 reviewed missense c.213 p.M71I 1 superfamily_NAD(P)-linked oxidoreductase "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" - no_errors PA2G4P4 647033 genome.wustl.edu 36 3 158010580 158010580 + RNA SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 158010580 158010580 G A SNP PA2G4P4 NR_003284 human genbank 54_36p -1 provisional rna NULL NULL 1 - - - pseudogene VEPH1 79674 genome.wustl.edu 36 3 158614419 158614419 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 158614419 158614419 G A SNP VEPH1 NM_024621 human genbank 54_36p -1 provisional missense c.851 p.P284L 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors SHOX2 6474 genome.wustl.edu 36 3 159303336 159303336 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 159303336 159303336 G A SNP SHOX2 NM_006884 human genbank 54_36p -1 validated missense c.380 p.A127V 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors GFM1 85476 genome.wustl.edu 36 3 159852601 159852601 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 159852601 159852601 A G SNP GFM1 NM_024996 human genbank 54_36p 1 reviewed missense c.712 p.I238V 1 "superfamily_SSF52540,HMMPfam_GTP_EFTU" "superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C" - no_errors GFM1 85476 genome.wustl.edu 36 3 159853880 159853880 + Silent SNP T T C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 159853880 159853880 T C SNP GFM1 NM_024996 human genbank 54_36p 1 reviewed silent c.928 p.L310 0.01 "HMMPfam_GTP_EFTU,superfamily_Translat_factor,superfamily_SSF52540" "HMMPfam_EFG_C,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,HMMPfam_GTP_EFTU_D2,HMMPfam_EFG_IV,superfamily_Translat_factor,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF52540" - no_errors GALNTL2 117248 genome.wustl.edu 36 3 16192065 16192066 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 16192065 16192066 - G INS GALNTL2 NM_054110 human genbank 54_36p 1 validated frame_shift_ins c.403_404 p.A137fs 0.888:0.866 NULL "superfamily_SSF53448,HMMPfam_Glycos_transf_2,superfamily_RicinB_like,HMMPfam_Ricin_B_lectin,HMMSmart_RICIN" - no_errors SI 6476 genome.wustl.edu 36 3 166220206 166220206 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 166220206 166220206 G T SNP SI NM_001041 human genbank 54_36p -1 validated missense c.3301 p.Q1101K 1 NULL "HMMSmart_SM00018,superfamily_Trefoil,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2" - no_errors SI 6476 genome.wustl.edu 36 3 166259699 166259699 + Missense_Mutation SNP T C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T C T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 3 166259699 166259699 T C SNP SI NM_001041 human genbank 54_36p -1 validated missense c.1229 p.Q410R 0.09 "HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SLITRK3 22865 genome.wustl.edu 36 3 166388959 166388959 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 166388959 166388959 G A SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated missense c.2354 p.P785L 0.11 NULL "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMSmart_LRRNT,HMMPfam_LRR_1" - no_errors SLITRK3 22865 genome.wustl.edu 36 3 166389085 166389085 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 166389085 166389085 A T SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated missense c.2228 p.I743N 1 NULL "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors SLITRK3 22865 genome.wustl.edu 36 3 166391031 166391031 + Silent SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 166391031 166391031 G T SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated silent c.282 p.T94 1 superfamily_SSF52058 "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors BCHE 590 genome.wustl.edu 36 3 167030102 167030102 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 167030102 167030102 A G SNP BCHE NM_000055 human genbank 54_36p -1 reviewed missense c.1414 p.F472L 1 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,HMMPfam_AChE_tetra" - no_errors BCHE 590 genome.wustl.edu 36 3 167030121 167030121 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 167030121 167030121 C A SNP BCHE NM_000055 human genbank 54_36p -1 reviewed missense c.1395 p.M465I 1 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,HMMPfam_AChE_tetra,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,superfamily_SSF53474" - no_errors ZBBX 79740 genome.wustl.edu 36 3 168498896 168498896 + Silent SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 168498896 168498896 T C SNP ZBBX NM_024687 human genbank 54_36p -1 validated silent c.1770 p.Q590 0.69 NULL HMMPfam_zf-B_box - no_errors ZBBX 79740 genome.wustl.edu 36 3 168498928 168498934 + Frame_Shift_Del DEL TTTCTTG TTTCTTG - novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 TTTCTTG TTTCTTG TTTCTTG - TTTCTTG TTTCTTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 168498928 168498934 TTTCTTG - DEL ZBBX NM_024687 human genbank 54_36p -1 validated frame_shift_del c.1738_1732 p.Q578fs 0.998:0.998:1.000:1.000:1.000:1.000:1.000 NULL HMMPfam_zf-B_box "(deletion:cds_exon[168498787,168498940])" no_errors SEC62 7095 genome.wustl.edu 36 3 171176123 171176123 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 171176123 171176123 G C SNP SEC62 NM_003262 human genbank 54_36p 1 reviewed missense c.70 p.V24L 1 NULL HMMPfam_Sec62 - no_errors PHC3 80012 genome.wustl.edu 36 3 171329851 171329851 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 171329851 171329851 T G SNP PHC3 NM_024947 human genbank 54_36p -1 validated missense c.1103 p.Q368P 0.96 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors SLC7A14 57709 genome.wustl.edu 36 3 171727348 171727348 + Silent SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 171727348 171727348 G T SNP SLC7A14 NM_020949 human genbank 54_36p -1 validated silent c.72 p.S24 1 NULL HMMPfam_AA_permease - no_errors SLC2A2 6514 genome.wustl.edu 36 3 172207654 172207654 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 172207654 172207654 C T SNP SLC2A2 NM_000340 human genbank 54_36p -1 reviewed missense c.589 p.V197I 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors TNIK 23043 genome.wustl.edu 36 3 172302058 172302058 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 172302058 172302058 G C SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.2465 p.P822R 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH" - no_errors TNIK 23043 genome.wustl.edu 36 3 172340001 172340001 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 172340001 172340001 C A SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.1371 p.Q457H 1 NULL "HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors TBC1D5 9779 genome.wustl.edu 36 3 17254817 17254817 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 17254817 17254817 C G SNP TBC1D5 NM_014744 human genbank 54_36p -1 validated missense c.1430 p.S477T 0.15 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC" - no_errors PLD1 5337 genome.wustl.edu 36 3 172820934 172820934 + Silent SNP T T C novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 172820934 172820934 T C SNP PLD1 NM_002662 human genbank 54_36p -1 validated silent c.2664 p.L888 0.86 superfamily_Phospholipase D/nuclease "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155" - no_errors PLD1 5337 genome.wustl.edu 36 3 172887213 172887213 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 172887213 172887213 T A SNP PLD1 NM_002662 human genbank 54_36p -1 validated missense c.1823 p.H608L 0.4 superfamily_Phospholipase D/nuclease "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,HMMPfam_PLDc,HMMSmart_SM00155,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,superfamily_Phospholipase D/nuclease" - no_errors KCNMB2 10242 genome.wustl.edu 36 3 180043309 180043309 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180043309 180043309 C G SNP KCNMB2 NM_005832 human genbank 54_36p 1 reviewed missense c.598 p.L200V 0.98 HMMPfam_CaKB "HMMPfam_KcnmB2_inactiv,HMMPfam_CaKB" - no_errors PIK3CA 5290 genome.wustl.edu 36 3 180411038 180411038 + Silent SNP C C T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180411038 180411038 C T SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed silent c.1530 p.H510 1 superfamily_ARM-type_fold ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 5290 genome.wustl.edu 36 3 180418785 180418785 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180418785 180418785 G A SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.1633 p.E545K 1 "HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold" ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 5290 genome.wustl.edu 36 3 180434779 180434779 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180434779 180434779 A G SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.3140 p.H1047R 1 "HMMSmart_PI3Kc,superfamily_Kinase_like" ############################################################################################################################################################################################################################################################### - no_errors LOC131054 131054 genome.wustl.edu 36 3 181523902 181523902 + RNA SNP G G T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 181523902 181523902 G T SNP LOC131054 XR_017452 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC131054 131054 genome.wustl.edu 36 3 181524401 181524401 + RNA SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 181524401 181524401 G A SNP LOC131054 XR_017452 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene CCDC39 339829 genome.wustl.edu 36 3 181860218 181860218 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 181860218 181860218 C A SNP CCDC39 NM_181426 human genbank 54_36p -1 validated nonsense c.550 p.E184* 1 NULL superfamily_Prefoldin - no_errors ATP11B 23200 genome.wustl.edu 36 3 184066902 184066902 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 184066902 184066902 G T SNP ATP11B NM_014616 human genbank 54_36p 1 validated missense c.1596 p.K532N 1 "superfamily_SSF56784,HMMPfam_Hydrolase,superfamily_SSF81660" "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660" - no_errors SATB1 6304 genome.wustl.edu 36 3 18411363 18411363 + Silent SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 18411363 18411363 G C SNP SATB1 NM_002971 human genbank 54_36p -1 validated silent c.801 p.V267 1 NULL "HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox" - no_errors LAMP3 27074 genome.wustl.edu 36 3 184352986 184352986 + Splice_Site SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 184352986 184352986 C G SNP LAMP3 NM_014398 human genbank 54_36p -1 validated splice_site c.760-1 e3-1 0.55 - - - no_errors MCF2L2 23101 genome.wustl.edu 36 3 184416547 184416556 + Frame_Shift_Del DEL TGCTGAATCT TGCTGAATCT - novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 TGCTGAATCT TGCTGAATCT TGCTGAATCT - TGCTGAATCT TGCTGAATCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 184416547 184416556 TGCTGAATCT - DEL MCF2L2 NM_015078 human genbank 54_36p -1 validated frame_shift_del c.2400_2391 p.K797fs 0.195:0.202:0.201:0.226:0.283:0.282:0.286:0.324:0.404:0.438 "superfamily_DBL homology domain (DH-domain),HMMSmart_SM00325" "HMMSmart_SM00516,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "(deletion:cds_exon[184416451,184416576])" no_errors KLHL6 89857 genome.wustl.edu 36 3 184692984 184692984 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 184692984 184692984 T C SNP KLHL6 NM_130446 human genbank 54_36p -1 validated missense c.1556 p.Y519C 1 "superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KLHL24 54800 genome.wustl.edu 36 3 184851541 184851541 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 184851541 184851541 C T SNP KLHL24 NM_017644 human genbank 54_36p 1 validated missense c.703 p.R235C 1 HMMPfam_BACK "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors YEATS2 55689 genome.wustl.edu 36 3 184976435 184976435 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 184976435 184976435 G A SNP YEATS2 NM_018023 human genbank 54_36p 1 provisional missense c.2407 p.A803T 0 NULL HMMPfam_YEATS - no_errors ABCC5 10057 genome.wustl.edu 36 3 185121875 185121875 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 185121875 185121875 C T SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed silent c.4221 p.E1407 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors EIF2B5 8893 genome.wustl.edu 36 3 185340583 185340583 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 185340583 185340583 A G SNP EIF2B5 NM_003907 human genbank 54_36p 1 validated missense c.787 p.N263D 1 superfamily_SSF53448 "superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2" - no_errors EIF2B5 8893 genome.wustl.edu 36 3 185343261 185343261 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 185343261 185343261 G A SNP EIF2B5 NM_003907 human genbank 54_36p 1 validated missense c.1547 p.G516E 1 NULL "HMMPfam_Hexapep,HMMPfam_W2,HMMSmart_eIF5C,superfamily_Trimer_LpxA_like,superfamily_ARM-type_fold,superfamily_SSF53448" - no_errors ABCF3 55324 genome.wustl.edu 36 3 185388622 185388622 + Splice_Site SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 185388622 185388622 G T SNP ABCF3 NM_018358 human genbank 54_36p 1 validated splice_site c.570-1 e7-1 1 - - - no_errors ECE2 9718 genome.wustl.edu 36 3 185458193 185458193 + Silent SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 185458193 185458193 C T SNP ECE2 NM_014693 human genbank 54_36p 1 validated silent c.435 p.T145 0.27 NULL "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_11,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors ECE2 9718 genome.wustl.edu 36 3 185491067 185491067 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 185491067 185491067 G A SNP ECE2 NM_014693 human genbank 54_36p 1 validated missense c.2038 p.A680T 1 "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M13_N,HMMPfam_Methyltransf_11,HMMPfam_Peptidase_M13,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors EIF4G1 1981 genome.wustl.edu 36 3 185525419 185525419 + Silent SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 185525419 185525419 G T SNP EIF4G1 NM_182917 human genbank 54_36p 1 reviewed silent c.2679 p.R893 1 "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2" - no_errors LOC131185 131185 genome.wustl.edu 36 3 18555915 18555915 + RNA SNP G T T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 18555915 18555915 G T SNP LOC131185 XR_016694 human genbank 54_36p 1 model rna NULL NULL 0.01 - - - pseudogene THPO 7066 genome.wustl.edu 36 3 185573473 185573473 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 185573473 185573473 A G SNP THPO NM_000460 human genbank 54_36p -1 reviewed missense c.584 p.L195P 0.95 NULL "HMMPfam_EPO_TPO,PatternScan_EPO_TPO,superfamily_4-helical cytokines" - no_errors EHHADH 1962 genome.wustl.edu 36 3 186392720 186392720 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 186392720 186392720 G C SNP EHHADH NM_001966 human genbank 54_36p -1 validated missense c.2160 p.S720R 0.94 NULL "superfamily_SSF52096,HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE,superfamily_NAD(P)-bd,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,HMMPfam_3HCDH" - no_errors LOC647276 647276 genome.wustl.edu 36 3 186619286 186619286 + RNA SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 186619286 186619286 C T SNP LOC647276 XR_017675 human genbank 54_36p -1 model rna NULL NULL 0.28 - - - pseudogene MAP3K13 9175 genome.wustl.edu 36 3 186648368 186648368 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 186648368 186648368 G T SNP MAP3K13 NM_004721 human genbank 54_36p 1 reviewed missense c.949 p.V317F 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" - no_errors MAP3K13 9175 genome.wustl.edu 36 3 186667364 186667364 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 186667364 186667364 G A SNP MAP3K13 NM_004721 human genbank 54_36p 1 reviewed missense c.1562 p.R521H 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" - no_errors TRA2B 6434 genome.wustl.edu 36 3 187126095 187126095 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 187126095 187126095 T C SNP TRA2B NM_004593 human genbank 54_36p -1 validated missense c.184 p.R62G 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ETV5 2119 genome.wustl.edu 36 3 187305791 187305791 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 187305791 187305791 T G SNP ETV5 NM_004454 human genbank 54_36p -1 validated missense c.229 p.N77H 1 HMMPfam_ETS_PEA3_N "HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors ADIPOQ 9370 genome.wustl.edu 36 3 188054895 188054895 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 188054895 188054895 G T SNP ADIPOQ NM_004797 human genbank 54_36p 1 reviewed missense c.443 p.G148V 1 "HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" "HMMPfam_Collagen,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" - no_errors MASP1 5648 genome.wustl.edu 36 3 188436440 188436440 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 188436440 188436440 G A SNP MASP1 NM_139125 human genbank 54_36p -1 reviewed missense c.1913 p.S638L 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors MASP1 5648 genome.wustl.edu 36 3 188436814 188436814 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 188436814 188436814 C T SNP MASP1 NM_139125 human genbank 54_36p -1 reviewed silent c.1539 p.K513 1 "HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys" ############################################################################################################################################################################################################################################################### - no_errors KCNH8 131096 genome.wustl.edu 36 3 19297777 19297777 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 19297777 19297777 G T SNP KCNH8 NM_144633 human genbank 54_36p 1 reviewed missense c.394 p.D132Y 1 "superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC" "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" - no_errors CPN2 1370 genome.wustl.edu 36 3 195543725 195543725 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 195543725 195543725 A T SNP CPN2 NM_001080513 human genbank 54_36p -1 validated missense c.1402 p.W468R 0.38 NULL "HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT" - no_errors CPN2 1370 genome.wustl.edu 36 3 195544164 195544164 + Silent SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 195544164 195544164 T C SNP CPN2 NM_001080513 human genbank 54_36p -1 validated silent c.963 p.S321 0.23 "HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047" "HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047" - no_errors LRRC15 131578 genome.wustl.edu 36 3 195562775 195562775 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 195562775 195562775 C T SNP LRRC15 NM_130830 human genbank 54_36p -1 validated missense c.293 p.R98Q 0.91 superfamily_SSF52058 "superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT" - no_errors ATP13A3 79572 genome.wustl.edu 36 3 195633836 195633836 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 195633836 195633836 C A SNP ATP13A3 NM_024524 human genbank 54_36p -1 validated missense c.2320 p.A774S 1 "superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like,HMMPfam_Hydrolase" "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ACAP2 23527 genome.wustl.edu 36 3 196494311 196494311 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 196494311 196494311 G A SNP ACAP2 NM_012287 human genbank 54_36p -1 validated missense c.1925 p.A642V 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors LOC100131360 100131360 genome.wustl.edu 36 3 197209357 197209357 + RNA SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 197209357 197209357 T A SNP LOC100131360 XR_037733 human genbank 54_36p 1 model rna NULL NULL 0.96 - - - pseudogene TFRC 7037 genome.wustl.edu 36 3 197283391 197283391 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197283391 197283391 C T SNP TFRC NM_003234 human genbank 54_36p -1 validated missense c.464 p.R155H 1 superfamily_Zn-dependent exopeptidases "superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" - no_errors ZDHHC19 131540 genome.wustl.edu 36 3 197422475 197422475 + Silent SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197422475 197422475 G A SNP ZDHHC19 NM_001039617 human genbank 54_36p -1 validated silent c.109 p.L37 0.17 NULL HMMPfam_zf-DHHC - no_errors ZDHHC19 131540 genome.wustl.edu 36 3 197422537 197422537 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197422537 197422537 G A SNP ZDHHC19 NM_001039617 human genbank 54_36p -1 validated missense c.47 p.P16L 0 NULL HMMPfam_zf-DHHC - no_errors OSTalpha 200931 genome.wustl.edu 36 3 197443710 197443710 + Silent SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197443710 197443710 A C SNP OSTalpha NM_152672 human genbank 54_36p 1 validated silent c.804 p.L268 1 NULL NULL - no_errors TCTEX1D2 255758 genome.wustl.edu 36 3 197502604 197502604 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197502604 197502604 G C SNP TCTEX1D2 NM_152773 human genbank 54_36p -1 provisional missense c.420 p.F140L 1 HMMPfam_Tctex-1 HMMPfam_Tctex-1 - no_errors UBXN7 26043 genome.wustl.edu 36 3 197579394 197579394 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197579394 197579394 C A SNP UBXN7 NM_015562 human genbank 54_36p -1 validated missense c.736 p.D246Y 1 HMMSmart_SM00594 "superfamily_UBA-like,HMMSmart_SM00594,HMMSmart_SM00166,HMMPfam_UBX,superfamily_Ubiquitin-like" - no_errors LOC642892 642892 genome.wustl.edu 36 3 197747883 197747883 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197747883 197747883 C T SNP LOC642892 XM_001718231 human genbank 54_36p 1 model silent c.84 p.H28 1 HMMPfam_Ribosomal_S14 HMMPfam_Ribosomal_S14 - pseudogene LRRC33 375387 genome.wustl.edu 36 3 197871893 197871893 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197871893 197871893 G A SNP LRRC33 NM_198565 human genbank 54_36p 1 provisional missense c.982 p.A328T 0.99 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors PAK2 5062 genome.wustl.edu 36 3 197993936 197993936 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197993936 197993936 G A SNP PAK2 NM_002577 human genbank 54_36p 1 reviewed missense c.22 p.E8K 1 NULL "HMMPfam_PBD,HMMSmart_PBD,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors LRCH3 84859 genome.wustl.edu 36 3 199043532 199043532 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 199043532 199043532 G C SNP LRCH3 NM_032773 human genbank 54_36p 1 provisional missense c.1049 p.R350T 1 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,superfamily_Calponin-homology" - no_errors EFHB 151651 genome.wustl.edu 36 3 19950031 19950031 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 19950031 19950031 C T SNP EFHB NM_144715 human genbank 54_36p -1 validated missense c.484 p.A162T 0.02 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors RPL15 6138 genome.wustl.edu 36 3 23935904 23935904 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 23935904 23935904 G T SNP RPL15 NM_002948 human genbank 54_36p 1 reviewed nonsense c.523 p.G175* 1 "superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L15e" "superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L15e,PatternScan_RIBOSOMAL_L15E" - no_errors OXSM 54995 genome.wustl.edu 36 3 25808487 25808487 + Silent SNP C C G novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 25808487 25808487 C G SNP OXSM NM_017897 human genbank 54_36p 1 reviewed silent c.972 p.A324 0.76 "superfamily_Thiolase-like,HMMPfam_Ketoacyl-synt_C" "superfamily_Thiolase-like,HMMPfam_ketoacyl-synt,PatternScan_B_KETOACYL_SYNTHASE,HMMPfam_Ketoacyl-synt_C" - no_errors NEK10 152110 genome.wustl.edu 36 3 27179022 27179022 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27179022 27179022 C G SNP NEK10 ENST00000396636 human ensembl 54_36p -1 known missense c.1135 p.E379Q 0.98 NULL "HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR" - no_errors NEK10 152110 genome.wustl.edu 36 3 27191211 27191211 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27191211 27191211 C A SNP NEK10 ENST00000396636 human ensembl 54_36p -1 known missense c.814 p.D272Y 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" - no_errors NEK10 152110 genome.wustl.edu 36 3 27307153 27307153 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27307153 27307153 C T SNP NEK10 ENST00000341435 human ensembl 54_36p -1 known missense c.1702 p.V568I 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_ARM repeat,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors LOC643634 643634 genome.wustl.edu 36 3 27649864 27649864 + RNA SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27649864 27649864 G A SNP LOC643634 XR_016808 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene EOMES 8320 genome.wustl.edu 36 3 27733789 27733789 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27733789 27733789 C A SNP EOMES NM_005442 human genbank 54_36p -1 reviewed nonsense c.1837 p.E613* 1 NULL "HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors EOMES 8320 genome.wustl.edu 36 3 27735905 27735905 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27735905 27735905 C T SNP EOMES NM_005442 human genbank 54_36p -1 reviewed missense c.1108 p.G370R 1 "HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd" "HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors AZI2 64343 genome.wustl.edu 36 3 28355111 28355111 + Splice_Site SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 28355111 28355111 C G SNP AZI2 NM_022461 human genbank 54_36p -1 validated splice_site c.217-1 e2-1 1 - - - no_errors CNTN4 152330 genome.wustl.edu 36 3 3005054 3005054 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 3005054 3005054 C T SNP CNTN4 NM_175607 human genbank 54_36p 1 reviewed missense c.1384 p.L462F 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors CNTN4 152330 genome.wustl.edu 36 3 3053974 3053974 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 3053974 3053974 C A SNP CNTN4 NM_175607 human genbank 54_36p 1 reviewed missense c.2054 p.P685H 1 "HMMPfam_fn3,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors TGFBR2 7048 genome.wustl.edu 36 3 30704885 30704885 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 30704885 30704885 A C SNP TGFBR2 NM_001024847 human genbank 54_36p 1 reviewed missense c.1477 p.K493Q 1 "HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" "HMMPfam_ecTbetaR2,superfamily_Snake toxin-like,HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CRBN 51185 genome.wustl.edu 36 3 3190765 3190765 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 3190765 3190765 T C SNP CRBN NM_016302 human genbank 54_36p -1 validated missense c.355 p.T119A 1 "HMMPfam_LON,HMMSmart_SM00464" "HMMPfam_LON,HMMSmart_SM00464" - no_errors ZNF860 344787 genome.wustl.edu 36 3 32005808 32005808 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 32005808 32005808 C T SNP ZNF860 ENST00000360311 human ensembl 54_36p 1 known missense c.185 p.A62V 0.02 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_stop_codon CLASP2 23122 genome.wustl.edu 36 3 33518188 33518188 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 33518188 33518188 T A SNP CLASP2 NM_015097 human genbank 54_36p -1 validated missense c.4394 p.D1465V 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors CLASP2 23122 genome.wustl.edu 36 3 33589669 33589669 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 33589669 33589669 C A SNP CLASP2 NM_015097 human genbank 54_36p -1 validated missense c.2636 p.W879L 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors CLASP2 23122 genome.wustl.edu 36 3 33661311 33661311 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 33661311 33661311 G A SNP CLASP2 NM_015097 human genbank 54_36p -1 validated silent c.804 p.S268 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors PDCD6IP 10015 genome.wustl.edu 36 3 33869100 33869100 + Silent SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 33869100 33869100 A T SNP PDCD6IP NM_013374 human genbank 54_36p 1 reviewed silent c.1758 p.T586 1 NULL HMMPfam_BRO1 - no_errors ARPP21 10777 genome.wustl.edu 36 3 35745918 35745918 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 35745918 35745918 C T SNP ARPP-21 NM_016300 human genbank 54_36p 1 validated missense c.1345 p.P449S 0.83 NULL "HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H" - no_errors DCLK3 85443 genome.wustl.edu 36 3 36731996 36731996 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 36731996 36731996 G A SNP DCLK3 NM_033403 human genbank 54_36p -1 validated missense c.1774 p.R592W 0.34 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TRANK1 9881 genome.wustl.edu 36 3 36872216 36872216 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 36872216 36872216 A G SNP LBA1 NM_014831 human genbank 54_36p -1 validated missense c.2219 p.M740T 1 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors MLH1 4292 genome.wustl.edu 36 3 37028328 37028328 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 37028328 37028328 A T SNP MLH1 NM_000249 human genbank 54_36p 1 reviewed missense c.559 p.N187Y 1 superfamily_ATP_bd_ATPase "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair" - no_errors LRRFIP2 9209 genome.wustl.edu 36 3 37100239 37100239 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 37100239 37100239 G A SNP LRRFIP2 NM_006309 human genbank 54_36p -1 validated silent c.1170 p.D390 1 HMMPfam_DUF2051 HMMPfam_DUF2051 - no_errors GOLGA4 2803 genome.wustl.edu 36 3 37342022 37342022 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 37342022 37342022 C G SNP GOLGA4 NM_002078 human genbank 54_36p 1 reviewed missense c.3641 p.A1214G 0.09 NULL "superfamily_Prefoldin,PatternScan_PHOSPHOPANTETHEINE,HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain" - no_errors ACAA1 30 genome.wustl.edu 36 3 38150461 38150461 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 38150461 38150461 G A SNP ACAA1 NM_001607 human genbank 54_36p -1 reviewed silent c.309 p.I103 0.83 "HMMPfam_Thiolase_N,superfamily_Thiolase-like" "HMMPfam_Thiolase_N,superfamily_Thiolase-like,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors XYLB 9942 genome.wustl.edu 36 3 38382188 38382188 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 38382188 38382188 G T SNP XYLB NM_005108 human genbank 54_36p 1 reviewed missense c.464 p.G155V 1 "superfamily_SSF53067,HMMPfam_FGGY_N" "superfamily_SSF53067,HMMPfam_FGGY_N,HMMPfam_FGGY_C" - no_errors SCN5A 6331 genome.wustl.edu 36 3 38602210 38602210 + Silent SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 38602210 38602210 A G SNP SCN5A NM_001099404 human genbank 54_36p -1 reviewed silent c.2763 p.L921 0.99 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ" - no_errors SCN10A 6336 genome.wustl.edu 36 3 38714850 38714850 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 38714850 38714850 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.4865 p.S1622F 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc" - no_errors SCN10A 6336 genome.wustl.edu 36 3 38730565 38730565 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 38730565 38730565 A G SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.3692 p.I1231T 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324" - no_errors SCN10A 6336 genome.wustl.edu 36 3 38768977 38768977 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 38768977 38768977 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.1492 p.R498W 0.88 NULL "HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324" - no_errors WDR48 57599 genome.wustl.edu 36 3 39068559 39068559 + Silent SNP G A A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 39068559 39068559 G A SNP WDR48 NM_020839 human genbank 54_36p 1 provisional silent c.39 p.R13 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors GORASP1 64689 genome.wustl.edu 36 3 39119205 39119205 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 39119205 39119205 G A SNP GORASP1 NM_031899 human genbank 54_36p -1 reviewed missense c.316 p.R106C 0.96 "HMMPfam_GRASP55_65,superfamily_PDZ domain-like" "superfamily_PDZ domain-like,HMMPfam_GRASP55_65" - no_errors CSRNP1 64651 genome.wustl.edu 36 3 39160740 39160740 + Silent SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 39160740 39160740 C T SNP AXUD1 NM_033027 human genbank 54_36p -1 reviewed silent c.672 p.K224 1 NULL NULL - no_errors XIRP1 165904 genome.wustl.edu 36 3 39202075 39202075 + Missense_Mutation SNP T A A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 39202075 39202075 T A SNP XIRP1 NM_194293 human genbank 54_36p -1 provisional missense c.3866 p.D1289V 0.02 NULL HMMPfam_Xin - no_errors XIRP1 165904 genome.wustl.edu 36 3 39204307 39204307 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 39204307 39204307 C G SNP XIRP1 NM_194293 human genbank 54_36p -1 provisional missense c.1634 p.G545A 0.98 HMMPfam_Xin HMMPfam_Xin - no_errors CCR8 1237 genome.wustl.edu 36 3 39349522 39349522 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 39349522 39349522 C G SNP CCR8 NM_005201 human genbank 54_36p 1 reviewed missense c.696 p.N232K 0.96 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF619 285267 genome.wustl.edu 36 3 40503387 40503387 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 40503387 40503387 G A SNP ZNF619 NM_173656 human genbank 54_36p 1 validated missense c.334 p.G112R 0 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CTNNB1 1499 genome.wustl.edu 36 3 41241891 41241891 + Silent SNP C T T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 41241891 41241891 C T SNP CTNNB1 NM_001098209 human genbank 54_36p 1 validated silent c.558 p.H186 0.99 "superfamily_ARM repeat,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors CHL1 10752 genome.wustl.edu 36 3 418318 418318 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 418318 418318 A T SNP CHL1 NM_006614 human genbank 54_36p 1 reviewed missense c.3395 p.K1132M 1 NULL "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_V-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors TRAK1 22906 genome.wustl.edu 36 3 42210387 42210387 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 42210387 42210387 C G SNP TRAK1 NM_001042646 human genbank 54_36p 1 validated missense c.968 p.T323R 1 HMMPfam_HAP1_N "HMMPfam_HAP1_N,PatternScan_HEMOPEXIN" - no_errors NKTR 4820 genome.wustl.edu 36 3 42653489 42653489 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 42653489 42653489 G A SNP NKTR NM_005385 human genbank 54_36p 1 reviewed missense c.1289 p.R430H 1 NULL "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors HHATL 57467 genome.wustl.edu 36 3 42709260 42709260 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 42709260 42709260 T C SNP HHATL NM_020707 human genbank 54_36p -1 provisional missense c.1502 p.E501G 1 NULL HMMPfam_MBOAT - no_errors LOC285346 285346 genome.wustl.edu 36 3 44516194 44516194 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44516194 44516194 C T SNP LOC285346 XM_001717544 human genbank 54_36p -1 model missense c.1082 p.C361Y 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF167 55888 genome.wustl.edu 36 3 44586786 44586786 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44586786 44586786 C T SNP ZNF167 NM_018651 human genbank 54_36p 1 validated missense c.1180 p.R394W 0.39 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF167 55888 genome.wustl.edu 36 3 44587521 44587521 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44587521 44587521 G T SNP ZNF167 NM_018651 human genbank 54_36p 1 validated nonsense c.1915 p.E639* 0.77 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF197 10168 genome.wustl.edu 36 3 44645733 44645733 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44645733 44645733 C A SNP ZNF197 NM_006991 human genbank 54_36p 1 reviewed missense c.83 p.T28N 0.04 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF197 10168 genome.wustl.edu 36 3 44659351 44659351 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44659351 44659351 C A SNP ZNF197 NM_006991 human genbank 54_36p 1 reviewed missense c.1725 p.F575L 0.91 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF197 10168 genome.wustl.edu 36 3 44659624 44659624 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44659624 44659624 T G SNP ZNF197 NM_006991 human genbank 54_36p 1 reviewed missense c.1998 p.I666M 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors KIF15 56992 genome.wustl.edu 36 3 44842876 44842876 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 44842876 44842876 G C SNP KIF15 NM_020242 human genbank 54_36p 1 validated missense c.2706 p.L902F 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" - no_errors CDCP1 64866 genome.wustl.edu 36 3 45102499 45102499 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 45102499 45102499 G C SNP CDCP1 NM_022842 human genbank 54_36p -1 reviewed missense c.2146 p.P716A 0.98 NULL superfamily_Spermadhesin CUB domain - no_errors LARS2 23395 genome.wustl.edu 36 3 45493047 45493047 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 45493047 45493047 C T SNP LARS2 NM_015340 human genbank 54_36p 1 reviewed silent c.942 p.I314 1 "superfamily_SSF52374,superfamily_ValRS_IleRS_edit" "superfamily_SSF52374,HMMPfam_tRNA-synt_1g,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS_IleRS_edit,HMMPfam_tRNA-synt_1,superfamily_tRNAsyn_1a_bind,HMMPfam_Anticodon_1" - no_errors CCR9 10803 genome.wustl.edu 36 3 45918252 45918252 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 45918252 45918252 G T SNP CCR9 NM_031200 human genbank 54_36p 1 reviewed missense c.968 p.R323I 0.93 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors XCR1 2829 genome.wustl.edu 36 3 46037724 46037724 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 46037724 46037724 G A SNP XCR1 NM_001024644 human genbank 54_36p -1 reviewed silent c.720 p.P240 0.86 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CCR3 1232 genome.wustl.edu 36 3 46282600 46282600 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 46282600 46282600 T C SNP CCR3 NM_001837 human genbank 54_36p 1 reviewed missense c.947 p.F316S 0.65 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RTP3 83597 genome.wustl.edu 36 3 46514655 46514655 + Silent SNP T T A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 46514655 46514655 T A SNP RTP3 NM_031440 human genbank 54_36p 1 provisional silent c.99 p.L33 0.01 NULL NULL - no_errors RTP3 83597 genome.wustl.edu 36 3 46517224 46517224 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 46517224 46517224 C A SNP RTP3 NM_031440 human genbank 54_36p 1 provisional missense c.530 p.P177Q 0.04 NULL NULL - no_errors LRRC2 79442 genome.wustl.edu 36 3 46538078 46538078 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 46538078 46538078 C T SNP LRRC2 NM_024512 human genbank 54_36p -1 validated missense c.1004 p.R335Q 0.51 superfamily_SSF52058 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1" - no_errors ITPR1 3708 genome.wustl.edu 36 3 4689842 4689842 + Silent SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 4689842 4689842 A C SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated silent c.2227 p.R743 0.32 NULL "HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors NBEAL2 23218 genome.wustl.edu 36 3 47025493 47025493 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 47025493 47025493 G A SNP NBEAL2 NM_015175 human genbank 54_36p 1 validated missense c.8038 p.A2680T 0.01 superfamily_WD40 repeat-like "superfamily_ARM repeat,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors SETD2 29072 genome.wustl.edu 36 3 47114495 47114495 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 47114495 47114495 G A SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.3587 p.A1196V 1 NULL "superfamily_Ferritin/RR_like,superfamily_SSF82199,HMMSmart_AWS,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_SRI_2" - no_errors SETD2 29072 genome.wustl.edu 36 3 47117991 47117991 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 47117991 47117991 C A SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.3467 p.G1156V 1 "HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199" "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,HMMSmart_AWS,superfamily_Ferritin/RR_like,HMMPfam_SRI_2,superfamily_SSF82199" - no_errors SETD2 29072 genome.wustl.edu 36 3 47138183 47138183 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 47138183 47138183 C A SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed nonsense c.1438 p.E480* 0.09 NULL "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,HMMSmart_AWS,superfamily_Ferritin/RR_like,HMMPfam_SRI_2,superfamily_SSF82199" - no_errors CSPG5 10675 genome.wustl.edu 36 3 47593978 47593978 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 47593978 47593978 C T SNP CSPG5 NM_006574 human genbank 54_36p -1 validated missense c.542 p.G181D 1 HMMPfam_Chon_Sulph_att "HMMPfam_Chon_Sulph_att,HMMSmart_EGF,HMMPfam_Neural_ProG_Cyt" - no_errors ITPR1 3708 genome.wustl.edu 36 3 4783381 4783381 + Silent SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 4783381 4783381 A G SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated silent c.5568 p.P1856 0 NULL "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors DHX30 22907 genome.wustl.edu 36 3 47863811 47863811 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 47863811 47863811 G A SNP DHX30 NM_138615 human genbank 54_36p 1 reviewed silent c.1974 p.L658 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_dsRNA-binding domain-like,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors ITPR1 3708 genome.wustl.edu 36 3 4791925 4791925 + Splice_Site SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 4791925 4791925 G T SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated splice_site c.5836-1 e42-1 1 - - - no_errors MAP4 4134 genome.wustl.edu 36 3 47994421 47994421 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 47994421 47994421 G A SNP MAP4 NM_002375 human genbank 54_36p -1 reviewed missense c.230 p.P77L 1 NULL "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP" - no_errors LOC729349 729349 genome.wustl.edu 36 3 48137215 48137215 + RNA SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48137215 48137215 G A SNP LOC729349 XR_015954 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PLXNB1 5364 genome.wustl.edu 36 3 48425879 48425879 + Silent SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48425879 48425879 C G SNP PLXNB1 NM_002673 human genbank 54_36p -1 validated silent c.5949 p.L1983 1 "HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" ############################################################################################################################################################################################################################################################### - no_errors PLXNB1 5364 genome.wustl.edu 36 3 48429549 48429549 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48429549 48429549 C A SNP PLXNB1 NM_002673 human genbank 54_36p -1 validated missense c.4569 p.K1523N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ATRIP 84126 genome.wustl.edu 36 3 48477017 48477017 + Silent SNP A A G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48477017 48477017 A G SNP ATRIP NM_130384 human genbank 54_36p 1 reviewed silent c.1560 p.G520 0 NULL NULL - no_errors COL7A1 1294 genome.wustl.edu 36 3 48598288 48598288 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48598288 48598288 C A SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed missense c.3765 p.Q1255H 1 NULL "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_Collagen,superfamily_BPTI-like,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors COL7A1 1294 genome.wustl.edu 36 3 48604189 48604189 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48604189 48604189 C T SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed silent c.1428 p.P476 0.95 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors CELSR3 1951 genome.wustl.edu 36 3 48664427 48664427 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48664427 48664427 C G SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.5810 p.R1937P 0.09 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors CELSR3 1951 genome.wustl.edu 36 3 48672827 48672827 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48672827 48672827 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.2245 p.V749I 1 "HMMSmart_SM00112,PatternScan_CADHERIN_1" ############################################################################################################################################################################################################################################################### - no_errors CELSR3 1951 genome.wustl.edu 36 3 48672956 48672956 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 48672956 48672956 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.2116 p.G706S 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors P4HTM 54681 genome.wustl.edu 36 3 49017495 49017495 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49017495 49017495 C A SNP P4HTM NM_177938 human genbank 54_36p 1 reviewed missense c.1085 p.P362H 0 "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" "superfamily_SSF47473,HMMSmart_P4Hc,PatternScan_EF_HAND_1,HMMPfam_2OG-FeII_Oxy" - no_errors QRICH1 54870 genome.wustl.edu 36 3 49044664 49044664 + Silent SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49044664 49044664 T C SNP QRICH1 NM_017730 human genbank 54_36p -1 validated silent c.2094 p.P698 0.98 NULL NULL - no_errors USP19 10869 genome.wustl.edu 36 3 49123255 49123255 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49123255 49123255 C A SNP USP19 NM_006677 human genbank 54_36p -1 provisional silent c.3282 p.L1094 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_HSP20-like chaperones,HMMPfam_CS,HMMPfam_DUF1872,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,PatternScan_UCH_2_2" - no_errors USP19 10869 genome.wustl.edu 36 3 49123457 49123457 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49123457 49123457 C T SNP USP19 NM_006677 human genbank 54_36p -1 provisional missense c.3166 p.G1056S 1 "HMMPfam_UCH,superfamily_Cysteine proteinases" "HMMPfam_UCH,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,superfamily_HSP20-like chaperones,HMMPfam_DUF1872,HMMPfam_CS,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors USP19 10869 genome.wustl.edu 36 3 49128266 49128266 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49128266 49128266 C T SNP USP19 NM_006677 human genbank 54_36p -1 provisional silent c.1278 p.E426 1 HMMPfam_DUF1872 "HMMPfam_UCH,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,superfamily_HSP20-like chaperones,HMMPfam_DUF1872,HMMPfam_CS,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors USP19 10869 genome.wustl.edu 36 3 49129040 49129040 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49129040 49129040 G A SNP USP19 NM_006677 human genbank 54_36p -1 provisional silent c.828 p.P276 0.78 HMMPfam_DUF1872 "HMMPfam_UCH,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,superfamily_HSP20-like chaperones,HMMPfam_DUF1872,HMMPfam_CS,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors LAMB2 3913 genome.wustl.edu 36 3 49134427 49134427 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49134427 49134427 C G SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed missense c.4877 p.R1626P 0 NULL "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors LAMB2 3913 genome.wustl.edu 36 3 49141237 49141237 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49141237 49141237 C T SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed missense c.1751 p.R584H 0.96 NULL "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196" - no_errors CCDC71 64925 genome.wustl.edu 36 3 49175752 49175752 + Silent SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49175752 49175752 C T SNP CCDC71 NM_022903 human genbank 54_36p -1 validated silent c.894 p.K298 1 NULL NULL - no_errors CCDC36 339834 genome.wustl.edu 36 3 49269671 49269671 + Silent SNP T T C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49269671 49269671 T C SNP CCDC36 NM_178173 human genbank 54_36p 1 validated silent c.1707 p.N569 0.01 NULL NULL - no_errors USP4 7375 genome.wustl.edu 36 3 49337406 49337406 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49337406 49337406 T G SNP USP4 NM_003363 human genbank 54_36p -1 validated missense c.558 p.K186N 1 HMMPfam_DUF1055 "HMMSmart_SM00695,HMMPfam_DUF1055,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors RHOA 387 genome.wustl.edu 36 3 49380916 49380916 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49380916 49380916 C T SNP RHOA NM_001664 human genbank 54_36p -1 validated missense c.226 p.D76N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174" - no_errors AMT 275 genome.wustl.edu 36 3 49431466 49431466 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 49431466 49431466 A G SNP AMT NM_000481 human genbank 54_36p -1 validated silent c.819 p.Y273 1 "superfamily_Aminomethyltransferase folate-binding domain,HMMPfam_GCV_T" "superfamily_Aminomethyltransferase folate-binding domain,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_Aminomethyltransferase beta-barrel domain" - no_errors BSN 8927 genome.wustl.edu 36 3 49664690 49664690 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49664690 49664690 C A SNP BSN NM_003458 human genbank 54_36p 1 validated missense c.2697 p.H899Q 1 NULL "HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF" - no_errors BSN 8927 genome.wustl.edu 36 3 49670021 49670021 + Silent SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 49670021 49670021 G A SNP BSN NM_003458 human genbank 54_36p 1 validated silent c.8028 p.T2676 0.7 NULL "HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF" - no_errors BSN 8927 genome.wustl.edu 36 3 49674953 49674953 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49674953 49674953 G T SNP BSN NM_003458 human genbank 54_36p 1 validated missense c.10671 p.E3557D 1 NULL "HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF" - no_errors UBA7 7318 genome.wustl.edu 36 3 49822752 49822752 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49822752 49822752 G T SNP UBA7 NM_003335 human genbank 54_36p -1 reviewed missense c.1581 p.N527K 0.95 "superfamily_MoeB,HMMPfam_ThiF" "PatternScan_UBIQUITIN_ACTIVAT_1,superfamily_MoeB,HMMPfam_ThiF,HMMPfam_UBA_e1_thiolCys,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_UBA_e1_C" - no_errors TRAIP 10293 genome.wustl.edu 36 3 49860597 49860597 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49860597 49860597 G C SNP TRAIP NM_005879 human genbank 54_36p -1 reviewed missense c.139 p.P47A 1 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" "PatternScan_ZF_RING_1,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_Prefoldin" - no_errors CAMKV 79012 genome.wustl.edu 36 3 49874255 49874255 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49874255 49874255 C T SNP CAMKV NM_024046 human genbank 54_36p -1 validated missense c.275 p.R92H 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" - no_errors RBM6 10180 genome.wustl.edu 36 3 49980091 49980091 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 49980091 49980091 G T SNP RBM6 NM_005777 human genbank 54_36p 1 provisional missense c.229 p.A77S 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMSmart_ZnF_C2H2,HMMSmart_G_patch,HMMPfam_G-patch" - no_errors BHLHE40 8553 genome.wustl.edu 36 3 5000108 5000108 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 5000108 5000108 C G SNP BHLHE40 NM_003670 human genbank 54_36p 1 reviewed missense c.970 p.P324A 1 NULL "HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353,HMMPfam_Hairy_orange,HMMSmart_SM00511" - no_errors RBM6 10180 genome.wustl.edu 36 3 50078793 50078793 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 50078793 50078793 C G SNP RBM6 NM_005777 human genbank 54_36p 1 provisional missense c.2797 p.P933A 1 NULL "HMMPfam_G-patch,HMMSmart_G_patch,HMMSmart_RRM,HMMSmart_ZnF_C2H2,superfamily_SSF54928" - no_errors GNAI2 2771 genome.wustl.edu 36 3 50265496 50265496 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 50265496 50265496 G A SNP GNAI2 NM_002070 human genbank 54_36p 1 validated missense c.340 p.A114T 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" - no_errors RASSF1 11186 genome.wustl.edu 36 3 50343846 50343846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 50343846 50343846 G A SNP RASSF1 NM_170714 human genbank 54_36p -1 reviewed missense c.811 p.R271W 0.18 "HMMSmart_SM00314,HMMPfam_RA" "superfamily_Cysteine-rich domain,HMMSmart_SM00109,HMMPfam_C1_1,HMMSmart_SM00314,HMMPfam_RA" - no_errors DOCK3 1795 genome.wustl.edu 36 3 51249982 51249982 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 51249982 51249982 C T SNP DOCK3 NM_004947 human genbank 54_36p 1 validated nonsense c.2023 p.R675* 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_Ded_cyto" - no_errors DOCK3 1795 genome.wustl.edu 36 3 51345667 51345667 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 51345667 51345667 C A SNP DOCK3 NM_004947 human genbank 54_36p 1 validated missense c.3554 p.T1185N 1 NULL "superfamily_SH3-domain,HMMPfam_Ded_cyto,HMMPfam_SH3_2" - no_errors DOCK3 1795 genome.wustl.edu 36 3 51393767 51393767 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 51393767 51393767 G A SNP DOCK3 NM_004947 human genbank 54_36p 1 validated missense c.5830 p.V1944I 0.97 NULL "superfamily_SH3-domain,HMMPfam_Ded_cyto,HMMPfam_SH3_2" - no_errors RAD54L2 23132 genome.wustl.edu 36 3 51648655 51648655 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 51648655 51648655 A C SNP RAD54L2 NM_015106 human genbank 54_36p 1 validated missense c.1717 p.S573R 1 NULL "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors RAD54L2 23132 genome.wustl.edu 36 3 51671746 51671746 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 51671746 51671746 G T SNP RAD54L2 NM_015106 human genbank 54_36p 1 validated missense c.3350 p.R1117L 0.36 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GPR62 118442 genome.wustl.edu 36 3 51965651 51965651 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 51965651 51965651 G A SNP GPR62 NM_080865 human genbank 54_36p 1 validated missense c.943 p.A315T 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors ALAS1 211 genome.wustl.edu 36 3 52215027 52215027 + Silent SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 52215027 52215027 G C SNP ALAS1 NM_000688 human genbank 54_36p 1 validated silent c.933 p.S311 0.73 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_2" - no_errors DNAH1 25981 genome.wustl.edu 36 3 52363991 52363991 + Silent SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 52363991 52363991 C T SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known silent c.3573 p.D1191 0.8 HMMPfam_DHC_N2 "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors NISCH 11188 genome.wustl.edu 36 3 52497361 52497361 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 52497361 52497361 G A SNP NISCH NM_007184 human genbank 54_36p 1 validated missense c.2813 p.R938H 1 NULL "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1,PatternScan_CYTOCHROME_P450" - no_errors ITIH1 3697 genome.wustl.edu 36 3 52797337 52797337 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 52797337 52797337 C T SNP ITIH1 NM_002215 human genbank 54_36p 1 validated silent c.2055 p.T685 0.02 NULL "HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors ITIH3 3699 genome.wustl.edu 36 3 52808870 52808870 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 52808870 52808870 T C SNP ITIH3 NM_002217 human genbank 54_36p 1 validated missense c.968 p.I323T 1 "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA" "HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors ITIH4 3700 genome.wustl.edu 36 3 52838274 52838274 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 52838274 52838274 G T SNP ITIH4 NM_002218 human genbank 54_36p -1 validated missense c.152 p.T51K 1 "HMMSmart_SM00609,HMMPfam_VIT" "HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors CACNA1D 776 genome.wustl.edu 36 3 53506237 53506237 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 53506237 53506237 G T SNP CACNA1D NM_000720 human genbank 54_36p 1 validated missense c.86 p.G29V 1 NULL "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1D 776 genome.wustl.edu 36 3 53733046 53733046 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 53733046 53733046 G A SNP CACNA1D NM_000720 human genbank 54_36p 1 validated missense c.2140 p.A714T 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324" - no_errors IL17RB 55540 genome.wustl.edu 36 3 53858764 53858764 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 53858764 53858764 G A SNP IL17RB NM_018725 human genbank 54_36p 1 reviewed missense c.128 p.G43E 1 NULL HMMPfam_SEFIR - no_errors CACNA2D3 55799 genome.wustl.edu 36 3 54996819 54996819 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 54996819 54996819 A T SNP CACNA2D3 NM_018398 human genbank 54_36p 1 reviewed nonsense c.2689 p.R897* 1 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1" - no_errors ERC2 26059 genome.wustl.edu 36 3 56001130 56001130 + Silent SNP C C G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 56001130 56001130 C G SNP ERC2 NM_015576 human genbank 54_36p -1 validated silent c.2250 p.L750 0.94 HMMPfam_Cast "HMMPfam_Cast,superfamily_Prefoldin" - no_errors ERC2 26059 genome.wustl.edu 36 3 56305322 56305322 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 56305322 56305322 A T SNP ERC2 NM_015576 human genbank 54_36p -1 validated nonsense c.839 p.L280* 1 HMMPfam_Cast "superfamily_Prefoldin,HMMPfam_Cast" - no_errors C3orf63 23272 genome.wustl.edu 36 3 56650737 56650737 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 56650737 56650737 C G SNP C3orf63 NM_015224 human genbank 54_36p -1 validated missense c.1111 p.D371H 1 NULL NULL - no_errors HESX1 8820 genome.wustl.edu 36 3 57207985 57207985 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 57207985 57207985 G C SNP HESX1 NM_003865 human genbank 54_36p -1 reviewed missense c.193 p.P65A 0.01 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors FLNB 2317 genome.wustl.edu 36 3 58084165 58084165 + Silent SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 58084165 58084165 G A SNP FLNB NM_001457 human genbank 54_36p 1 validated silent c.3432 p.E1144 0.95 "HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN" - no_errors FLNB 2317 genome.wustl.edu 36 3 58086364 58086364 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 58086364 58086364 G C SNP FLNB NM_001457 human genbank 54_36p 1 validated missense c.3915 p.E1305D 1 "HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin" "HMMSmart_IG_FLMN,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,superfamily_Ig_E-set,superfamily_Calponin-homology,HMMPfam_Filamin" - no_errors ABHD6 57406 genome.wustl.edu 36 3 58254519 58254519 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 58254519 58254519 A G SNP ABHD6 NM_020676 human genbank 54_36p 1 validated missense c.1001 p.K334R 1 NULL "superfamily_SSF53474,HMMPfam_Abhydrolase_1" - no_errors PXK 54899 genome.wustl.edu 36 3 58343280 58343280 + Splice_Site SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 58343280 58343280 G T SNP PXK NM_017771 human genbank 54_36p 1 provisional splice_site c.202-1 e4-1 1 - - - no_errors PDHB 5162 genome.wustl.edu 36 3 58389325 58389325 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 58389325 58389325 G A SNP PDHB NM_000925 human genbank 54_36p -1 validated silent c.849 p.V283 1 "superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transket_pyr,superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" - no_errors PTPRG 5793 genome.wustl.edu 36 3 61709623 61709623 + Silent SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 61709623 61709623 C T SNP PTPRG NM_002841 human genbank 54_36p 1 reviewed silent c.117 p.H39 0.91 NULL "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRG 5793 genome.wustl.edu 36 3 62223519 62223519 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 62223519 62223519 C A SNP PTPRG NM_002841 human genbank 54_36p 1 reviewed missense c.2566 p.Q856K 1 "HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors THOC7 80145 genome.wustl.edu 36 3 63795871 63795871 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 63795871 63795871 T A SNP THOC7 NM_025075 human genbank 54_36p -1 validated missense c.546 p.E182D 1 NULL HMMPfam_THOC7 - no_errors PRICKLE2 166336 genome.wustl.edu 36 3 64060432 64060432 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 64060432 64060432 G T SNP PRICKLE2 NM_198859 human genbank 54_36p -1 validated missense c.1870 p.L624I 1 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors ADAMTS9 56999 genome.wustl.edu 36 3 64581896 64581896 + Missense_Mutation SNP T G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T G T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 3 64581896 64581896 T G SNP ADAMTS9 NM_182920 human genbank 54_36p -1 reviewed missense c.2747 p.Q916P 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors LRIG1 26018 genome.wustl.edu 36 3 66519144 66519144 + Silent SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 66519144 66519144 G A SNP LRIG1 NM_015541 human genbank 54_36p -1 validated silent c.1740 p.T580 1 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors KBTBD8 84541 genome.wustl.edu 36 3 67141284 67141284 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 67141284 67141284 C G SNP KBTBD8 NM_032505 human genbank 54_36p 1 provisional missense c.1513 p.Q505E 1 "superfamily_Galactose oxidase central domain,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors GRM7 2917 genome.wustl.edu 36 3 6878441 6878441 + Missense_Mutation SNP C A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 6878441 6878441 C A SNP GRM7 NM_181874 human genbank 54_36p 1 reviewed missense c.366 p.F122L 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors TMF1 7110 genome.wustl.edu 36 3 69165545 69165546 + Missense_Mutation DNP TC TC GA novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 TC TC TC GA TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 69165545 69165546 TC GA DNP TMF1 NM_007114 human genbank 54_36p -1 validated missense c.2245_2246 p.Q749H 1.000:1.000 NULL NULL - no_errors FRMD4B 23150 genome.wustl.edu 36 3 69313206 69313206 + Silent SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 69313206 69313206 C T SNP FRMD4B NM_015123 human genbank 54_36p -1 validated silent c.2385 p.K795 0.04 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C" - no_errors PDZRN3 23024 genome.wustl.edu 36 3 73516571 73516571 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 73516571 73516571 G A SNP PDZRN3 NM_015009 human genbank 54_36p -1 provisional silent c.1836 p.T612 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors GRM7 2917 genome.wustl.edu 36 3 7595692 7595692 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 7595692 7595692 C T SNP GRM7 NM_181874 human genbank 54_36p 1 reviewed missense c.2099 p.T700I 1 HMMPfam_7tm_3 "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822" - no_errors LOC401076 401076 genome.wustl.edu 36 3 76566806 76566806 + RNA SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 76566806 76566806 T C SNP LOC401076 XR_016406 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ROBO1 6091 genome.wustl.edu 36 3 78767801 78767801 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 78767801 78767801 C T SNP ROBO1 NM_002941 human genbank 54_36p -1 reviewed missense c.3185 p.R1062H 1 NULL "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors GBE1 2632 genome.wustl.edu 36 3 81837424 81837424 + Silent SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 81837424 81837424 G A SNP GBE1 NM_000158 human genbank 54_36p -1 reviewed silent c.174 p.N58 0.76 NULL "superfamily_E set domains,HMMPfam_CBM_48,superfamily_(Trans)glycosidases,HMMSmart_SM00642,HMMPfam_Alpha-amylase,superfamily_Glycosyl hydrolase domain,HMMPfam_Alpha-amylase_C" - no_errors LMCD1 29995 genome.wustl.edu 36 3 8584162 8584162 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 8584162 8584162 C G SNP LMCD1 NM_014583 human genbank 54_36p 1 reviewed missense c.976 p.L326V 1 "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors CADM2 253559 genome.wustl.edu 36 3 85858344 85858344 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 85858344 85858344 A G SNP CADM2 NM_153184 human genbank 54_36p 1 validated missense c.23 p.N8S 1 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_4.1m" - no_errors HTR1F 3355 genome.wustl.edu 36 3 88122898 88122898 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 88122898 88122898 C A SNP HTR1F NM_000866 human genbank 54_36p 1 validated missense c.309 p.D103E 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTR1F 3355 genome.wustl.edu 36 3 88122930 88122930 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 88122930 88122930 T C SNP HTR1F NM_000866 human genbank 54_36p 1 validated missense c.341 p.L114P 1 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors RAD18 56852 genome.wustl.edu 36 3 8898063 8898063 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 8898063 8898063 C G SNP RAD18 NM_020165 human genbank 54_36p -1 reviewed missense c.1466 p.R489T 0.95 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00734,HMMPfam_SAP,HMMSmart_SM00513" - no_errors EPHA3 2042 genome.wustl.edu 36 3 89342190 89342190 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 89342190 89342190 C T SNP EPHA3 NM_005233 human genbank 54_36p 1 reviewed missense c.644 p.T215M 1 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHA3 2042 genome.wustl.edu 36 3 89582187 89582187 + Silent SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 89582187 89582187 G A SNP EPHA3 NM_005233 human genbank 54_36p 1 reviewed silent c.2667 p.K889 1 superfamily_Protein kinase-like (PK-like) ############################################################################################################################################################################################################################################################### - no_errors THUMPD3 25917 genome.wustl.edu 36 3 9387893 9387893 + Silent SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 9387893 9387893 T C SNP THUMPD3 NM_015453 human genbank 54_36p 1 validated silent c.480 p.N160 0.07 NULL "HMMPfam_THUMP,HMMPfam_UPF0020,superfamily_SSF53335,PatternScan_UPF0020" - no_errors SETD5 55209 genome.wustl.edu 36 3 9450570 9450570 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 9450570 9450570 G A SNP SETD5 NM_001080517 human genbank 54_36p 1 provisional missense c.113 p.S38N 1 NULL "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" - no_errors SETD5 55209 genome.wustl.edu 36 3 9487592 9487592 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 9487592 9487592 G A SNP SETD5 NM_001080517 human genbank 54_36p 1 provisional silent c.3174 p.Q1058 1 NULL "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors CPNE9 151835 genome.wustl.edu 36 3 9743379 9743379 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 3 9743379 9743379 G A SNP CPNE9 NM_153635 human genbank 54_36p 1 validated missense c.1375 p.V459I 0.99 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" - no_errors BRPF1 7862 genome.wustl.edu 36 3 9758744 9758744 + Silent SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 9758744 9758744 G T SNP BRPF1 NM_001003694 human genbank 54_36p 1 reviewed silent c.1890 p.L630 1 "superfamily_Bromodomain,HMMSmart_BROMO" "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP" - no_errors EPHA6 285220 genome.wustl.edu 36 3 98188911 98188911 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 98188911 98188911 A G SNP EPHA6 NM_001080448 human genbank 54_36p 1 provisional silent c.498 p.T166 0.96 "superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615" ############################################################################################################################################################################################################################################################### - no_errors MINA 84864 genome.wustl.edu 36 3 99151416 99151416 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99151416 99151416 G C SNP MINA NM_001042533 human genbank 54_36p -1 validated missense c.1022 p.P341R 1 HMMPfam_Cupin_4 "superfamily_Clavaminate synthase-like,HMMPfam_Cupin_4" - no_errors OR5H15 403274 genome.wustl.edu 36 3 99370996 99370996 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99370996 99370996 C A SNP OR5H15 NM_001005515 human genbank 54_36p 1 provisional missense c.763 p.L255I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5H6 79295 genome.wustl.edu 36 3 99466357 99466357 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3 99466357 99466357 T C SNP OR5H6 NM_001005479 human genbank 54_36p 1 provisional missense c.539 p.F180S 0.02 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5H2 79310 genome.wustl.edu 36 3 99484630 99484630 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99484630 99484630 G T SNP OR5H2 NM_001005482 human genbank 54_36p 1 provisional missense c.209 p.S70I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CRELD1 78987 genome.wustl.edu 36 3 9960176 9960176 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 9960176 9960176 T A SNP CRELD1 NM_001031717 human genbank 54_36p 1 validated missense c.1025 p.I342N 1 "HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_EGF_2" "superfamily_Grow_fac_recept,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_LAM_1,HMMSmart_FU,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL" - no_errors OR5K2 402135 genome.wustl.edu 36 3 99699652 99699652 + Silent SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99699652 99699652 A T SNP OR5K2 NM_001004737 human genbank 54_36p 1 provisional silent c.438 p.T146 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5K2 402135 genome.wustl.edu 36 3 99699836 99699836 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99699836 99699836 G A SNP OR5K2 NM_001004737 human genbank 54_36p 1 provisional missense c.622 p.V208I 0 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors LOC339843 339843 genome.wustl.edu 36 3 99861734 99861734 + RNA SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99861734 99861734 C T SNP LOC339843 XR_016598 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000215208 0 genome.wustl.edu 36 9 30790374 30790374 + Splice_Site SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 30790374 30790374 T C SNP ENSG00000215208 ENST00000399791 human ensembl 54_36p -1 novel splice_site c.NULL NULL 0.99 - - - no_coding_region:pseudogene ENSG00000210307 0 genome.wustl.edu 36 15 30974745 30974745 + RNA SNP T T A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 30974745 30974745 T A SNP ENSG00000210307 ENST00000387572 human ensembl 54_36p 1 novel rna NULL NULL 0 - - - pseudogene ENSG00000217332 0 genome.wustl.edu 36 10 31018437 31018437 + Splice_Site SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 31018437 31018437 A C SNP ENSG00000217332 ENST00000404846 human ensembl 54_36p 1 known splice_site c.NULL NULL 1 - - - no_coding_region:pseudogene FLJ43944 400593 genome.wustl.edu 36 17 31258402 31258402 + RNA SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 31258402 31258402 G C SNP FLJ43944 XR_042037 human genbank 54_36p -1 model rna NULL NULL 0.03 - - - no_errors LOC100133317 100133317 genome.wustl.edu 36 7 32844570 32844570 + RNA SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 32844570 32844570 G A SNP LOC100133317 XR_039293 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000214613 0 genome.wustl.edu 36 16 32928349 32928349 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 32928349 32928349 C T SNP ENSG00000214613 ENST00000398668 human ensembl 54_36p 1 known nonsense c.199 p.R67* 0.99 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_start_codon:no_stop_codon ENSG00000205454 0 genome.wustl.edu 36 16 33554989 33554989 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 33554989 33554989 T C SNP ENSG00000205454 ENST00000360102 human ensembl 54_36p -1 known missense c.112 p.R38G 0.25 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_start_codon:no_stop_codon LOC100132086 100132086 genome.wustl.edu 36 12 34293670 34293670 + RNA SNP C C G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 34293670 34293670 C G SNP LOC100132086 XR_037578 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene LOC100132910 100132910 genome.wustl.edu 36 18 35168915 35168915 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 35168915 35168915 G C SNP LOC100132910 XM_001720527 human genbank 54_36p 1 model missense c.109 p.V37L 0.99 NULL NULL - no_errors uc010lvw.1 0 genome.wustl.edu 36 8 36780606 36780606 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 36780606 36780606 G A SNP uc010lvw.1 ENST00000399881 human ensembl 54_36p 1 known silent c.15 p.T5 0 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a" - no_start_codon:no_stop_codon uc010djz.1 0 genome.wustl.edu 36 18 37469 37469 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 37469 37469 A C SNP uc010djz.1 ENST00000308911 human ensembl 54_36p -1 known missense c.1256 p.V419G 1 superfamily_Tub_FtsZ_C "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" - no_errors LOC100128525 100128525 genome.wustl.edu 36 22 38601808 38601808 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 38601808 38601808 G C SNP LOC100128525 XM_001716642 human genbank 54_36p 1 model missense c.532 p.V178L 1 "superfamily_ISP domain,HMMPfam_Rieske" "HMMPfam_Ubiq-Cytc-red_N,superfamily_Non-globular alpha beta subunits of globular proteins,HMMPfam_UCR_TM,superfamily_ISP transmembrane anchor,superfamily_ISP domain,HMMPfam_Rieske" - pseudogene LOC400750 400750 genome.wustl.edu 36 1 38948805 38948805 + RNA SNP G G T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 38948805 38948805 G T SNP LOC400750 XR_039444 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ADH6 130 genome.wustl.edu 36 4 100350650 100350653 + Frame_Shift_Del DEL ACTG - ACTG novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 - - - ACTG ACTG ACTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 4 100350650 100350653 ACTG - DEL ADH6 NM_001102470 human genbank 54_36p -1 reviewed frame_shift_del c.295_292 p.Q98fs 1.000:0.999:1.000:0.989 "superfamily_GroES_like,HMMPfam_ADH_N" "superfamily_GroES_like,HMMPfam_ADH_N,PatternScan_ADH_ZINC,superfamily_NAD(P)-bd,HMMPfam_ADH_zinc_N" "(deletion:cds_exon[100350595,100350682])" no_errors ADH1A 124 genome.wustl.edu 36 4 100427037 100427037 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 100427037 100427037 G A SNP ADH1A NM_000667 human genbank 54_36p -1 reviewed silent c.252 p.V84 0.96 "superfamily_GroES-like,HMMPfam_ADH_N" "superfamily_GroES-like,HMMPfam_ADH_N,PatternScan_ADH_ZINC,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N" - no_errors ADH1C 126 genome.wustl.edu 36 4 100476955 100476955 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 100476955 100476955 T C SNP ADH1C NM_000669 human genbank 54_36p -1 reviewed missense c.1105 p.I369V 0.95 superfamily_GroES-like "superfamily_GroES-like,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N" - pseudogene ADH1C 126 genome.wustl.edu 36 4 100488002 100488002 + Silent SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4 100488002 100488002 G A SNP ADH1C NM_000669 human genbank 54_36p -1 reviewed silent c.43 p.L15 1 superfamily_GroES-like "superfamily_GroES-like,HMMPfam_ADH_zinc_N,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains" - pseudogene ZNF518B 85460 genome.wustl.edu 36 4 10053863 10053881 + Frame_Shift_Del DEL GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC - GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 10053863 10053881 GTTGCTTCTATCAAATGCC - DEL ZNF518B NM_053042 human genbank 54_36p -1 validated frame_shift_del c.3188_3170 p.R1057fs 0.992:0.992:0.828:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.797:0.862 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[10053826,10057050])" no_errors RG9MTD2 93587 genome.wustl.edu 36 4 100698372 100698372 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 100698372 100698372 G A SNP RG9MTD2 NM_152292 human genbank 54_36p -1 validated missense c.205 p.R69C 1 NULL HMMPfam_tRNA_m1G_MT - no_errors MTTP 4547 genome.wustl.edu 36 4 100762958 100762958 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 100762958 100762958 A T SNP MTTP NM_000253 human genbank 54_36p 1 reviewed missense c.2615 p.Q872L 1 NULL "superfamily_Lipid_transp_b-sht_shell,HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical" - no_errors BANK1 55024 genome.wustl.edu 36 4 102970198 102970198 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 102970198 102970198 C T SNP BANK1 NM_017935 human genbank 54_36p 1 validated missense c.281 p.T94I 0.99 NULL superfamily_Ankyrin repeat - no_errors NFKB1 4790 genome.wustl.edu 36 4 103678093 103678093 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 103678093 103678093 A G SNP NFKB1 NM_003998 human genbank 54_36p 1 reviewed silent c.210 p.L70 0.99 "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,superfamily_ANK" "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_ANK,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Ank,HMMSmart_ANK,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors NHEDC1 150159 genome.wustl.edu 36 4 104047236 104047236 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 104047236 104047236 C G SNP NHEDC1 NM_139173 human genbank 54_36p -1 reviewed missense c.1101 p.K367N 0.38 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors CENPE 1062 genome.wustl.edu 36 4 104249486 104249486 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 104249486 104249486 A G SNP CENPE NM_001813 human genbank 54_36p -1 validated missense c.7934 p.F2645S 0.15 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_AA_TRNA_LIGASE_I" - no_errors CENPE 1062 genome.wustl.edu 36 4 104257209 104257209 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 104257209 104257209 C T SNP CENPE NM_001813 human genbank 54_36p -1 validated missense c.7416 p.M2472I 0.24 NULL "PatternScan_AA_TRNA_LIGASE_I,HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CENPE 1062 genome.wustl.edu 36 4 104274451 104274451 + Silent SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 104274451 104274451 G A SNP CENPE NM_001813 human genbank 54_36p -1 validated silent c.6570 p.S2190 0.93 NULL "PatternScan_AA_TRNA_LIGASE_I,HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors EEF1A1P9 441032 genome.wustl.edu 36 4 106626006 106626006 + RNA SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 106626006 106626006 C G SNP EEF1AL7 NR_003586 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - pseudogene CASP6 839 genome.wustl.edu 36 4 110838932 110838932 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 110838932 110838932 A C SNP CASP6 NM_001226 human genbank 54_36p -1 reviewed missense c.56 p.M19R 0.74 NULL "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors RRH 10692 genome.wustl.edu 36 4 110984743 110984743 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 110984743 110984743 G C SNP RRH NM_006583 human genbank 54_36p 1 reviewed missense c.955 p.V319L 0.66 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN" - no_errors ALPK1 80216 genome.wustl.edu 36 4 113571611 113571611 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 113571611 113571611 G A SNP ALPK1 NM_001102406 human genbank 54_36p 1 validated missense c.1459 p.G487R 0.94 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase" - no_errors ALPK1 80216 genome.wustl.edu 36 4 113572696 113572696 + Silent SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 113572696 113572696 C T SNP ALPK1 NM_001102406 human genbank 54_36p 1 validated silent c.2544 p.A848 0.02 NULL "HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like)" - no_errors LOC441034 441034 genome.wustl.edu 36 4 113928956 113928956 + RNA SNP A G G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 113928956 113928956 A G SNP LOC441034 XR_016809 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ANK2 287 genome.wustl.edu 36 4 114434045 114434045 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 114434045 114434045 A T SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.2377 p.N793Y 1 "superfamily_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors CAMK2D 817 genome.wustl.edu 36 4 114600794 114600794 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 114600794 114600794 A C SNP CAMK2D NM_001221 human genbank 54_36p -1 reviewed missense c.1162 p.L388V 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_CaMKII_AD" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_CaMKII_AD" - no_errors ARSJ 79642 genome.wustl.edu 36 4 115043527 115043527 + Silent SNP G G A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 115043527 115043527 G A SNP ARSJ NM_024590 human genbank 54_36p -1 validated silent c.1152 p.L384 1 "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like" "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2" - no_errors UGT8 7368 genome.wustl.edu 36 4 115763968 115763968 + Silent SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 115763968 115763968 C T SNP UGT8 NM_003360 human genbank 54_36p 1 validated silent c.483 p.G161 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors CTBP1 1487 genome.wustl.edu 36 4 1197364 1197364 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 1197364 1197364 G T SNP CTBP1 NM_001328 human genbank 54_36p -1 reviewed missense c.923 p.P308H 1 "HMMPfam_2-Hacid_dh,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_2-Hacid_dh_C" "superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_2-Hacid_dh,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_2-Hacid_dh_C,PatternScan_D_2_HYDROXYACID_DH_1,PatternScan_D_2_HYDROXYACID_DH_3" - no_errors SYNPO2 171024 genome.wustl.edu 36 4 120172443 120172443 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 120172443 120172443 C T SNP SYNPO2 NM_133477 human genbank 54_36p 1 validated missense c.3065 p.S1022L 0.04 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors USP53 54532 genome.wustl.edu 36 4 120408927 120408927 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4 120408927 120408927 G C SNP USP53 NM_019050 human genbank 54_36p 1 validated missense c.1192 p.D398H 0.77 NULL "superfamily_SSF54001,HMMPfam_UCH" - no_errors TRPC3 7222 genome.wustl.edu 36 4 123043572 123043572 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 123043572 123043572 A G SNP TRPC3 NM_003305 human genbank 54_36p -1 validated missense c.2129 p.V710A 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans" - no_errors TRPC3 7222 genome.wustl.edu 36 4 123065657 123065657 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 123065657 123065657 C G SNP TRPC3 NM_003305 human genbank 54_36p -1 validated missense c.923 p.R308P 1 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_Ion_trans,HMMPfam_TRP_2" - no_errors KIAA1109 84162 genome.wustl.edu 36 4 123380667 123380667 + Silent SNP T T A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 123380667 123380667 T A SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated silent c.4380 p.P1460 1 NULL "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors C4orf42 92070 genome.wustl.edu 36 4 1234461 1234461 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 1234461 1234461 A T SNP C4orf42 NM_052861 human genbank 54_36p 1 validated missense c.100 p.R34W 0.01 NULL NULL - no_errors KIAA1109 84162 genome.wustl.edu 36 4 123487309 123487309 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 123487309 123487309 A G SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated missense c.12815 p.Y4272C 1 NULL "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors BBS12 166379 genome.wustl.edu 36 4 123882867 123882867 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 123882867 123882867 A T SNP BBS12 NM_152618 human genbank 54_36p 1 validated missense c.370 p.S124C 1 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like" - no_errors FGF2 2247 genome.wustl.edu 36 4 124032998 124032998 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 124032998 124032998 C G SNP FGF2 NM_002006 human genbank 54_36p 1 reviewed missense c.864 p.S288R 1 superfamily_Cytokine "superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors SPRY1 10252 genome.wustl.edu 36 4 124542801 124542801 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 124542801 124542801 T C SNP SPRY1 NM_005841 human genbank 54_36p 1 validated missense c.605 p.L202S 0.96 HMMPfam_Sprouty HMMPfam_Sprouty - no_errors FAT4 79633 genome.wustl.edu 36 4 126549081 126549081 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 126549081 126549081 G A SNP FAT4 NM_024582 human genbank 54_36p 1 validated missense c.5602 p.D1868N 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" ############################################################################################################################################################################################################################################################### - no_errors FAT4 79633 genome.wustl.edu 36 4 126628179 126628179 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 126628179 126628179 C T SNP FAT4 NM_024582 human genbank 54_36p 1 validated missense c.12875 p.P4292L 1 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors HSPA4L 22824 genome.wustl.edu 36 4 128934695 128934695 + Silent SNP T C C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 128934695 128934695 T C SNP HSPA4L NM_014278 human genbank 54_36p 1 provisional silent c.121 p.L41 1 "superfamily_SSF53067,HMMPfam_HSP70" "superfamily_SSF53067,HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934" - no_errors BOD1L 259282 genome.wustl.edu 36 4 13221714 13221714 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 13221714 13221714 G A SNP BOD1L NM_148894 human genbank 54_36p -1 validated missense c.1433 p.S478L 1 superfamily_SSF81995 "superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors SETD7 80854 genome.wustl.edu 36 4 140652340 140652340 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 140652340 140652340 C A SNP SETD7 NM_030648 human genbank 54_36p -1 validated missense c.1028 p.G343V 0.88 "superfamily_SET domain,HMMPfam_SET" "superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMPfam_MORN,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" - no_errors MGST2 4258 genome.wustl.edu 36 4 140844720 140844720 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 140844720 140844720 A T SNP MGST2 NM_002413 human genbank 54_36p 1 reviewed missense c.412 p.N138Y 0.01 NULL "HMMPfam_MAPEG,PatternScan_FLAP_GST2_LTC4S" - no_errors CLGN 1047 genome.wustl.edu 36 4 141531248 141531248 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 141531248 141531248 G A SNP CLGN NM_004362 human genbank 54_36p -1 reviewed missense c.1736 p.S579F 1 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Calreticulin,PatternScan_CALRETICULIN_1,PatternScan_CALRETICULIN_2,superfamily_P-domain of calnexin/calreticulin,PatternScan_CALRETICULIN_REPEAT" - no_errors CLGN 1047 genome.wustl.edu 36 4 141541110 141541110 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 141541110 141541110 G C SNP CLGN NM_004362 human genbank 54_36p -1 reviewed missense c.545 p.P182R 1 "HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CALRETICULIN_2" "HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_P-domain of calnexin/calreticulin,PatternScan_CALRETICULIN_1,PatternScan_CALRETICULIN_2,PatternScan_CALRETICULIN_REPEAT" - no_errors UCP1 7350 genome.wustl.edu 36 4 141700559 141700559 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 141700559 141700559 A G SNP UCP1 NM_021833 human genbank 54_36p -1 reviewed missense c.865 p.F289L 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors INPP4B 8821 genome.wustl.edu 36 4 143262846 143262846 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 143262846 143262846 C A SNP INPP4B NM_001101669 human genbank 54_36p -1 reviewed missense c.2020 p.D674Y 1 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors USP38 84640 genome.wustl.edu 36 4 144355152 144355152 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 144355152 144355152 A G SNP USP38 NM_032557 human genbank 54_36p 1 validated missense c.2573 p.Y858C 1 "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_2" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors ZNF718 255403 genome.wustl.edu 36 4 145370 145370 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 145370 145370 A C SNP ZNF718 ENST00000400172 human ensembl 54_36p 1 known missense c.234 p.L78F 0 NULL NULL - no_errors HHIP 64399 genome.wustl.edu 36 4 145848838 145848838 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 145848838 145848838 C A SNP HHIP NM_022475 human genbank 54_36p 1 reviewed missense c.1226 p.P409Q 0.99 superfamily_Soluble quinoprotein glucose dehydrogenase "HMMPfam_Folate_rec,superfamily_Soluble quinoprotein glucose dehydrogenase,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2" - no_errors HHIP 64399 genome.wustl.edu 36 4 145852675 145852675 + Splice_Site SNP T T C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 145852675 145852675 T C SNP HHIP NM_022475 human genbank 54_36p 1 reviewed splice_site c.1423+2 e8+2 1 - - - no_errors OTUD4 54726 genome.wustl.edu 36 4 146278262 146278262 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 146278262 146278262 A C SNP OTUD4 NM_001102653 human genbank 54_36p -1 reviewed missense c.2920 p.S974A 1 NULL "superfamily_SSF54001,HMMPfam_OTU" - no_errors LOC729497 729497 genome.wustl.edu 36 4 146765721 146765721 + RNA SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 146765721 146765721 G A SNP LOC729497 XR_015940 human genbank 54_36p -1 model rna NULL NULL 0.92 - - - pseudogene LOC90826 90826 genome.wustl.edu 36 4 148814343 148814343 + Silent SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 148814343 148814343 A T SNP LOC90826 NM_138364 human genbank 54_36p -1 predicted silent c.471 p.L157 0.99 "superfamily_TPR-like,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "superfamily_TPR-like,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors DCLK2 166614 genome.wustl.edu 36 4 151388206 151388206 + Missense_Mutation SNP G A G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 4 151388206 151388206 G A SNP DCLK2 NM_001040260 human genbank 54_36p 1 validated missense c.1780 p.E594K 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors LRBA 987 genome.wustl.edu 36 4 151490617 151490617 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 151490617 151490617 T C SNP LRBA NM_006726 human genbank 54_36p -1 validated missense c.7372 p.I2458V 1 "superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like" "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors LRBA 987 genome.wustl.edu 36 4 151612283 151612283 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 151612283 151612283 A T SNP LRBA NM_006726 human genbank 54_36p -1 validated missense c.6643 p.W2215R 1 "HMMPfam_Beach,superfamily_BEACH domain" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors RPS3A 6189 genome.wustl.edu 36 4 152243643 152243643 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 152243643 152243643 G A SNP RPS3A NM_001006 human genbank 54_36p 1 reviewed silent c.525 p.E175 1 HMMPfam_Ribosomal_S3Ae "HMMPfam_Ribosomal_S3Ae,PatternScan_RIBOSOMAL_S3AE" - no_errors FBXL5 26234 genome.wustl.edu 36 4 15237620 15237629 + Frame_Shift_Del DEL AGTCTGGGTA AGTCTGGGTA - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 AGTCTGGGTA AGTCTGGGTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 15237620 15237629 AGTCTGGGTA - DEL FBXL5 NM_012161 human genbank 54_36p -1 reviewed frame_shift_del c.1098_1089 p.Q365fs 0.998:1.000:1.000:0.998:1.000:1.000:0.998:1.000:1.000:0.991 "superfamily_RNI-like,HMMSmart_SM00367" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RNI-like,HMMSmart_SM00367,HMMPfam_LRR_1" "(deletion:cds_exon[15237594,15237676])" no_errors FBXW7 55294 genome.wustl.edu 36 4 153466739 153466739 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 153466739 153466739 G A SNP FBXW7 NM_033632 human genbank 54_36p -1 reviewed missense c.1513 p.R505C 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors TIGD4 201798 genome.wustl.edu 36 4 153911130 153911130 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 153911130 153911130 C T SNP TIGD4 NM_145720 human genbank 54_36p -1 reviewed silent c.477 p.S159 0.12 NULL "HMMPfam_CENP-B_N,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind,HMMSmart_SM00674,HMMPfam_DDE" - no_errors ARFIP1 27236 genome.wustl.edu 36 4 154028823 154028823 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 154028823 154028823 C G SNP ARFIP1 NM_001025595 human genbank 54_36p 1 validated missense c.880 p.Q294E 1 HMMPfam_Arfaptin HMMPfam_Arfaptin - no_errors KIAA0922 23240 genome.wustl.edu 36 4 154722035 154722035 + Silent SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 154722035 154722035 T G SNP KIAA0922 NM_015196 human genbank 54_36p 1 validated silent c.321 p.V107 0.01 NULL NULL - no_errors DCHS2 54798 genome.wustl.edu 36 4 155461499 155461499 + Missense_Mutation SNP T A A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4 155461499 155461499 T A SNP DCHS2 NM_017639 human genbank 54_36p -1 validated missense c.3137 p.E1046V 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors FGB 2244 genome.wustl.edu 36 4 155711031 155711031 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 155711031 155711031 G T SNP FGB NM_005141 human genbank 54_36p 1 reviewed missense c.1255 p.D419Y 1 "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C" "HMMPfam_Fib_beta,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors FGB 2244 genome.wustl.edu 36 4 155711191 155711191 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 155711191 155711191 G A SNP FGB NM_005141 human genbank 54_36p 1 reviewed missense c.1415 p.G472E 1 "HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like" "HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_Fib_beta" - no_errors PROM1 8842 genome.wustl.edu 36 4 15600486 15600486 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 15600486 15600486 G T SNP PROM1 NM_006017 human genbank 54_36p -1 reviewed missense c.2043 p.H681Q 0.17 HMMPfam_Prominin HMMPfam_Prominin - no_errors PROM1 8842 genome.wustl.edu 36 4 15629230 15629230 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 15629230 15629230 G T SNP PROM1 NM_006017 human genbank 54_36p -1 reviewed missense c.816 p.N272K 0.92 HMMPfam_Prominin HMMPfam_Prominin - no_errors ACCN5 51802 genome.wustl.edu 36 4 156994844 156994844 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4 156994844 156994844 A T SNP ACCN5 NM_017419 human genbank 54_36p -1 reviewed missense c.420 p.H140Q 0.18 HMMPfam_ASC "PatternScan_ASC,HMMPfam_ASC" - no_errors NAF1 92345 genome.wustl.edu 36 4 164269865 164269865 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 164269865 164269865 G C SNP NAF1 NM_138386 human genbank 54_36p -1 validated missense c.1119 p.F373L 0.39 NULL HMMPfam_NAF1 - no_errors ANP32C 23520 genome.wustl.edu 36 4 165338253 165338253 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 165338253 165338253 C T SNP ANP32C NM_012403 human genbank 54_36p -1 reviewed missense c.61 p.E21K 1 superfamily_L domain-like "superfamily_L domain-like,HMMPfam_LRR_1" - no_errors TLL1 7092 genome.wustl.edu 36 4 167135691 167135691 + Silent SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 167135691 167135691 C T SNP TLL1 NM_012464 human genbank 54_36p 1 reviewed silent c.543 p.A181 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin" ############################################################################################################################################################################################################################################################### - no_errors DDX60L 91351 genome.wustl.edu 36 4 169552223 169552223 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 169552223 169552223 C G SNP DDX60L NM_001012967 human genbank 54_36p -1 validated missense c.3778 p.V1260L 0.36 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors PALLD 23022 genome.wustl.edu 36 4 170061530 170061530 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 170061530 170061530 C T SNP PALLD NM_016081 human genbank 54_36p 1 validated silent c.2469 p.H823 1 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,PatternScan_DEHYDRATASE_SER_THR" - no_errors NEK1 4750 genome.wustl.edu 36 4 170713557 170713557 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 170713557 170713557 C T SNP NEK1 NM_012224 human genbank 54_36p -1 validated missense c.1451 p.R484H 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CLCN3 1182 genome.wustl.edu 36 4 170871004 170871004 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 170871004 170871004 C G SNP CLCN3 NM_173872 human genbank 54_36p 1 validated missense c.2349 p.C783W 1 "HMMPfam_CBS,superfamily_SSF54631,HMMSmart_CBS" "superfamily_Cl-channel_core,HMMPfam_Voltage_CLC,HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631" - no_errors C4orf27 54969 genome.wustl.edu 36 4 170899710 170899710 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 170899710 170899710 G A SNP C4orf27 NM_017867 human genbank 54_36p -1 validated silent c.621 p.T207 0.07 HMMPfam_DUF2228 HMMPfam_DUF2228 - no_errors QDPR 5860 genome.wustl.edu 36 4 17115158 17115158 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 17115158 17115158 C A SNP QDPR NM_000320 human genbank 54_36p -1 reviewed missense c.237 p.K79N 1 "HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains" "HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_ADH_SHORT" - no_errors DCAF16 54876 genome.wustl.edu 36 4 17414271 17414271 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 17414271 17414271 T C SNP C4orf30 NM_017741 human genbank 54_36p -1 predicted missense c.592 p.T198A 1 NULL NULL - no_errors ADAM29 11086 genome.wustl.edu 36 4 176134255 176134255 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 176134255 176134255 G T SNP ADAM29 NM_014269 human genbank 54_36p 1 reviewed missense c.1004 p.G335V 0.56 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR" - no_errors ADAM29 11086 genome.wustl.edu 36 4 176134344 176134344 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 176134344 176134344 A G SNP ADAM29 NM_014269 human genbank 54_36p 1 reviewed missense c.1093 p.K365E 0 "HMMPfam_Reprolysin,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors WWC2 80014 genome.wustl.edu 36 4 184403640 184403640 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 184403640 184403640 C T SNP WWC2 NM_024949 human genbank 54_36p 1 validated missense c.680 p.S227F 1 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors ING2 3622 genome.wustl.edu 36 4 184669015 184669015 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 184669015 184669015 G T SNP ING2 NM_001564 human genbank 54_36p 1 validated missense c.759 p.W253C 1 "superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1" "superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors LOC391722 391722 genome.wustl.edu 36 4 185457678 185457678 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 185457678 185457678 G C SNP LOC391722 XM_373042 human genbank 54_36p -1 model missense c.732 p.N244K 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors IRF2 3660 genome.wustl.edu 36 4 185577632 185577632 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 185577632 185577632 A G SNP IRF2 NM_002199 human genbank 54_36p -1 reviewed missense c.172 p.W58R 1 "HMMSmart_SM00348,superfamily_Winged helix DNA-binding domain,HMMPfam_IRF,PatternScan_IRF" "HMMSmart_SM00348,superfamily_Winged helix DNA-binding domain,HMMPfam_IRF,PatternScan_IRF" - no_errors ACSL1 2180 genome.wustl.edu 36 4 185916019 185916019 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 185916019 185916019 C T SNP ACSL1 NM_001995 human genbank 54_36p -1 reviewed nonsense c.1832 p.W611* 1 superfamily_Acetyl-CoA synthetase-like "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors SLC25A4 291 genome.wustl.edu 36 4 186303363 186303363 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 186303363 186303363 G A SNP SLC25A4 NM_001151 human genbank 54_36p 1 validated missense c.563 p.R188K 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors SNX25 83891 genome.wustl.edu 36 4 186504684 186504684 + Splice_Site SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 186504684 186504684 G A SNP SNX25 NM_031953 human genbank 54_36p 1 validated splice_site c.1696-1 e12-1 1 - - - no_errors PDLIM3 27295 genome.wustl.edu 36 4 186664680 186664680 + Silent SNP G A A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 186664680 186664680 G A SNP PDLIM3 NM_014476 human genbank 54_36p -1 reviewed silent c.783 p.D261 0.99 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors SORBS2 8470 genome.wustl.edu 36 4 186773046 186773046 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 186773046 186773046 T C SNP SORBS2 NM_021069 human genbank 54_36p -1 reviewed missense c.2816 p.E939G 1 superfamily_SH3-domain "HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors TLR3 7098 genome.wustl.edu 36 4 187240618 187240618 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187240618 187240618 A G SNP TLR3 NM_003265 human genbank 54_36p 1 reviewed missense c.784 p.T262A 0 superfamily_SSF52058 "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors KLKB1 3818 genome.wustl.edu 36 4 187392185 187392185 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 187392185 187392185 C A SNP KLKB1 NM_000892 human genbank 54_36p 1 reviewed missense c.307 p.Q103K 1 "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1" "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors KLKB1 3818 genome.wustl.edu 36 4 187414210 187414210 + Silent SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187414210 187414210 C A SNP KLKB1 NM_000892 human genbank 54_36p 1 reviewed silent c.1560 p.T520 1 "HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys" "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,HMMPfam_PAN_1,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors MTNR1A 4543 genome.wustl.edu 36 4 187692302 187692302 + Missense_Mutation SNP G T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187692302 187692302 G T SNP MTNR1A NM_005958 human genbank 54_36p -1 reviewed missense c.588 p.F196L 0.96 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FAT1 2195 genome.wustl.edu 36 4 187747329 187747329 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187747329 187747329 G T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.13178 p.P4393H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187777672 187777672 + Silent SNP C T T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187777672 187777672 C T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed silent c.7062 p.R2354 0.94 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187777869 187777869 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187777869 187777869 C T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.6865 p.A2289T 0 "HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187794239 187794239 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187794239 187794239 C T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.4117 p.V1373I 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187865550 187865550 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187865550 187865550 T C SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.2426 p.H809R 0.01 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187867227 187867227 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187867227 187867227 G A SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.749 p.A250V 1 "HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187867460 187867460 + Silent SNP G A A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187867460 187867460 G A SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed silent c.516 p.S172 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 genome.wustl.edu 36 4 187867507 187867507 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 187867507 187867507 A G SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.469 p.S157P 0.94 "HMMPfam_Cadherin,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors TRIML1 339976 genome.wustl.edu 36 4 189305446 189305446 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 189305446 189305446 T A SNP TRIML1 NM_178556 human genbank 54_36p 1 provisional missense c.1333 p.F445I 0.99 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors WHSC1 7468 genome.wustl.edu 36 4 1950336 1950336 + Silent SNP A A C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 1950336 1950336 A C SNP WHSC1 NM_001042424 human genbank 54_36p 1 reviewed silent c.4000 p.R1334 0 NULL ############################################################################################################################################################################################################################################################### - no_errors SLIT2 9353 genome.wustl.edu 36 4 20102532 20102532 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 20102532 20102532 G A SNP SLIT2 NM_004787 human genbank 54_36p 1 provisional missense c.826 p.A276T 0.92 "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors SLIT2 9353 genome.wustl.edu 36 4 20228322 20228322 + Silent SNP G A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 4 20228322 20228322 G A SNP SLIT2 NM_004787 human genbank 54_36p 1 provisional silent c.4299 p.Q1433 1 "HMMSmart_SM00274,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors KCNIP4 80333 genome.wustl.edu 36 4 20493348 20493348 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 20493348 20493348 C T SNP KCNIP4 NM_025221 human genbank 54_36p -1 reviewed silent c.144 p.T48 0.88 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - overly_large_intron PI4K2B 55300 genome.wustl.edu 36 4 24879227 24879227 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 24879227 24879227 G C SNP PI4K2B NM_018323 human genbank 54_36p 1 validated missense c.1143 p.L381F 1 HMMPfam_PI3_PI4_kinase "PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_PI3_PI4_kinase" - no_errors ANAPC4 29945 genome.wustl.edu 36 4 25026255 25026255 + Silent SNP A A G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 25026255 25026255 A G SNP ANAPC4 NM_013367 human genbank 54_36p 1 reviewed silent c.1896 p.R632 0.98 NULL superfamily_WD40 repeat-like - no_errors SLC34A2 10568 genome.wustl.edu 36 4 25280501 25280501 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 25280501 25280501 G C SNP SLC34A2 NM_006424 human genbank 54_36p 1 validated missense c.770 p.G257A 1 HMMPfam_Na_Pi_cotrans HMMPfam_Na_Pi_cotrans - no_errors FAM193A 8603 genome.wustl.edu 36 4 2631482 2631482 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 2631482 2631482 G A SNP C4orf8 NM_003704 human genbank 54_36p 1 validated missense c.775 p.V259M 1 NULL NULL - no_errors FAM193A 8603 genome.wustl.edu 36 4 2668058 2668058 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 2668058 2668058 C T SNP C4orf8 NM_003704 human genbank 54_36p 1 validated silent c.2574 p.S858 0.13 NULL NULL - no_errors ADD1 118 genome.wustl.edu 36 4 2886435 2886435 + Silent SNP C T T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 2886435 2886435 C T SNP ADD1 NM_014189 human genbank 54_36p 1 reviewed silent c.1725 p.A575 1 NULL "superfamily_Aldolase_II_N,HMMPfam_Aldolase_II" - no_errors PCDH7 5099 genome.wustl.edu 36 4 30335169 30335169 + Silent SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 30335169 30335169 C T SNP PCDH7 NM_032457 human genbank 54_36p 1 reviewed silent c.2886 p.P962 0.99 HMMPfam_Protocadherin "HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMPfam_Protocadherin" - no_errors HTT 3064 genome.wustl.edu 36 4 3099054 3099054 + Silent SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 3099054 3099054 G A SNP HTT NM_002111 human genbank 54_36p 1 reviewed silent c.1668 p.S556 0.62 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors RGS12 6002 genome.wustl.edu 36 4 3289212 3289212 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 3289212 3289212 C G SNP RGS12 NM_198229 human genbank 54_36p 1 reviewed missense c.1517 p.S506C 0 NULL ############################################################################################################################################################################################################################################################### - no_errors LRPAP1 4043 genome.wustl.edu 36 4 3489580 3489580 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 3489580 3489580 G T SNP LRPAP1 NM_002337 human genbank 54_36p -1 validated missense c.730 p.Q244K 1 HMMPfam_Alpha-2-MRAP_C "HMMPfam_Alpha-2-MRAP_N,superfamily_MG_RAP_rcpt_1,HMMPfam_Alpha-2-MRAP_C,PatternScan_ER_TARGET" - no_errors TBC1D1 23216 genome.wustl.edu 36 4 37580520 37580520 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 37580520 37580520 C T SNP TBC1D1 NM_015173 human genbank 54_36p 1 validated nonsense c.409 p.Q137* 1 "superfamily_PH domain-like,HMMSmart_SM00462" "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_LECTIN_LEGUME_BETA,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors TLR1 7096 genome.wustl.edu 36 4 38475422 38475422 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 38475422 38475422 C T SNP TLR1 NM_003263 human genbank 54_36p -1 reviewed missense c.1426 p.A476T 0.96 "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Outer arm dynein light chain 1,HMMSmart_SM00364,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors TLR6 10333 genome.wustl.edu 36 4 38506378 38506378 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 38506378 38506378 T C SNP TLR6 NM_006068 human genbank 54_36p -1 reviewed missense c.1112 p.E371G 0.92 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors UBE2K 3093 genome.wustl.edu 36 4 39423776 39423780 + Frame_Shift_Del DEL ACCAA ACCAA - novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 ACCAA ACCAA ACCAA - ACCAA ACCAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 39423776 39423780 ACCAA - DEL UBE2K NM_005339 human genbank 54_36p 1 reviewed frame_shift_del c.167_171 p.Y56fs 1.000:0.998:1.000:1.000:0.991 "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con,PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165" "(deletion:cds_exon[39423767,39423825])" no_errors N4BP2 55728 genome.wustl.edu 36 4 39801168 39801168 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 39801168 39801168 G A SNP N4BP2 NM_018177 human genbank 54_36p 1 reviewed missense c.4225 p.V1409I 1 NULL "superfamily_UBA-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF1771,HMMSmart_SM00463,HMMPfam_Smr" - no_errors ABCA11P 79963 genome.wustl.edu 36 4 409943 409943 + RNA SNP T T G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 409943 409943 T G SNP ABCA11P NR_002451 human genbank 54_36p -1 validated rna NULL NULL 1 - - - pseudogene PHOX2B 8929 genome.wustl.edu 36 4 41445365 41445365 + Missense_Mutation SNP G T T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 41445365 41445365 G T SNP PHOX2B NM_003924 human genbank 54_36p -1 reviewed missense c.20 p.S7Y 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors SLC30A9 10463 genome.wustl.edu 36 4 41714898 41714898 + Silent SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 41714898 41714898 C T SNP SLC30A9 NM_006345 human genbank 54_36p 1 validated silent c.288 p.G96 0.28 NULL "superfamily_Putative DNA-binding domain,HMMPfam_Cation_efflux" - no_errors OTOP1 133060 genome.wustl.edu 36 4 4250353 4250353 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 4250353 4250353 C T SNP OTOP1 NM_177998 human genbank 54_36p -1 provisional missense c.1109 p.R370Q 0.95 HMMPfam_DUF270 HMMPfam_DUF270 - no_errors GRXCR1 389207 genome.wustl.edu 36 4 42590045 42590045 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 42590045 42590045 T A SNP GRXCR1 NM_001080476 human genbank 54_36p 1 inferred missense c.5 p.L2H 0.89 NULL "PatternScan_GLUTAREDOXIN_1,superfamily_Thiordxn-like_fd,HMMPfam_Glutaredoxin,superfamily_HSP_DnaJ_cys-rich" - no_errors LYAR 55646 genome.wustl.edu 36 4 4336351 4336351 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 4336351 4336351 T C SNP LYAR NM_017816 human genbank 54_36p -1 validated missense c.20 p.N7S 1 NULL HMMPfam_zf-LYAR - no_errors ZBTB49 166793 genome.wustl.edu 36 4 4355335 4355335 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 4355335 4355335 G C SNP ZNF509 NM_145291 human genbank 54_36p 1 validated missense c.871 p.D291H 0.16 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HMX1 3166 genome.wustl.edu 36 4 43601 43601 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 43601 43601 G A SNP HMX1 NM_018942 human genbank 54_36p -1 validated silent c.372 p.C124 0 NULL NULL - no_start_codon:pseudogene:no_stop_codon HMX1 3166 genome.wustl.edu 36 4 43721 43721 + Silent SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 43721 43721 C T SNP HMX1 NM_018942 human genbank 54_36p -1 validated silent c.252 p.P84 0 NULL NULL - no_start_codon:pseudogene:no_stop_codon GNPDA2 132789 genome.wustl.edu 36 4 44413920 44413920 + Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 44413920 44413920 T A SNP GNPDA2 NM_138335 human genbank 54_36p -1 provisional nonsense c.376 p.K126* 0.95 "superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_Glucosamine_iso,PatternScan_GLC_GALNAC_ISOMERASE" "superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_Glucosamine_iso,PatternScan_GLC_GALNAC_ISOMERASE" - no_errors GABRA2 2555 genome.wustl.edu 36 4 45947281 45947281 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 4 45947281 45947281 G C SNP GABRA2 NM_000807 human genbank 54_36p -1 reviewed missense c.1157 p.T386S 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GABRA2 2555 genome.wustl.edu 36 4 46000233 46000233 + Splice_Site SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 46000233 46000233 C A SNP GABRA2 NM_000807 human genbank 54_36p -1 reviewed splice_site c.856+1 e7+1 1 - - - no_errors CORIN 10699 genome.wustl.edu 36 4 47361995 47361995 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 47361995 47361995 G C SNP CORIN NM_006587 human genbank 54_36p -1 reviewed missense c.1400 p.P467R 1 "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063" ############################################################################################################################################################################################################################################################### - no_errors CNGA1 1259 genome.wustl.edu 36 4 47634201 47634212 + Frame_Shift_Del DEL GACCAGTAAAGG GACCAGTAAAGG TA novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GACCAGTAAAGG GACCAGTAAAGG GACCAGTAAAGG TA GACCAGTAAAGG GACCAGTAAAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 47634201 47634212 GACCAGTAAAGG TA DEL CNGA1 NM_000087 human genbank 54_36p -1 reviewed frame_shift_del c.1067_1056 p.L353fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.979:1.000:1.000:1.000 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" "(deletion:cds_exon[47633195,47634603])" no_errors ZNF595 152687 genome.wustl.edu 36 4 49360 49360 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 49360 49360 C A SNP ZNF595 ENST00000339368 human ensembl 54_36p 1 known missense c.41 p.S14Y 0.64 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SCFD2 152579 genome.wustl.edu 36 4 53926373 53926373 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 53926373 53926373 G A SNP SCFD2 NM_152540 human genbank 54_36p -1 validated missense c.493 p.P165S 0.68 NULL "superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" - no_errors SCFD2 152579 genome.wustl.edu 36 4 53926396 53926396 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 53926396 53926396 G A SNP SCFD2 NM_152540 human genbank 54_36p -1 validated missense c.470 p.P157L 1 NULL "HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins" - no_errors FIP1L1 81608 genome.wustl.edu 36 4 53951540 53951540 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 53951540 53951540 T A SNP FIP1L1 NM_030917 human genbank 54_36p 1 reviewed missense c.493 p.W165R 1 HMMPfam_Fip1 HMMPfam_Fip1 - no_errors PDGFRA 5156 genome.wustl.edu 36 4 54822144 54822144 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 54822144 54822144 T A SNP PDGFRA NM_006206 human genbank 54_36p 1 reviewed missense c.175 p.Y59N 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" ############################################################################################################################################################################################################################################################### - no_errors KIT 3815 genome.wustl.edu 36 4 55297711 55297711 + Silent SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 55297711 55297711 G A SNP KIT NM_000222 human genbank 54_36p 1 reviewed silent c.2664 p.R888 0.96 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors KDR 3791 genome.wustl.edu 36 4 55665901 55665901 + Silent SNP A A T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 55665901 55665901 A T SNP KDR NM_002253 human genbank 54_36p -1 validated silent c.1653 p.P551 0.92 NULL "superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors KDR 3791 genome.wustl.edu 36 4 55675918 55675918 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 55675918 55675918 C T SNP KDR NM_002253 human genbank 54_36p -1 validated missense c.538 p.D180N 1 superfamily_SSF48726 "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors CLOCK 9575 genome.wustl.edu 36 4 56004807 56004807 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56004807 56004807 T A SNP CLOCK NM_004898 human genbank 54_36p -1 reviewed missense c.1706 p.Q569L 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086" - no_errors EXOC1 55763 genome.wustl.edu 36 4 56457812 56457812 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56457812 56457812 T G SNP EXOC1 NM_001024924 human genbank 54_36p 1 reviewed missense c.2126 p.V709G 1 HMMPfam_Sec3 HMMPfam_Sec3 - no_errors CEP135 9662 genome.wustl.edu 36 4 56572877 56572877 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56572877 56572877 G T SNP CEP135 NM_025009 human genbank 54_36p 1 validated missense c.2771 p.R924I 1 superfamily_Prefoldin superfamily_Prefoldin - no_errors EVC2 132884 genome.wustl.edu 36 4 5678506 5678517 + In_Frame_Del DEL TTCCATTTGGTC TTCCATTTGGTC - novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 TTCCATTTGGTC TTCCATTTGGTC TTCCATTTGGTC - TTCCATTTGGTC TTCCATTTGGTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 5678506 5678517 TTCCATTTGGTC - DEL EVC2 NM_147127 human genbank 54_36p -1 validated in_frame_del c.1917_1906 p.DQME636in_frame_del 0.078:0.452:0.767:0.949:0.957:0.961:0.964:0.977:0.974:0.833:0.867:0.874 NULL NULL "(deletion:cds_exon[5678377,5678536])" no_errors AASDH 132949 genome.wustl.edu 36 4 56899386 56899386 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56899386 56899386 A G SNP AASDH NM_181806 human genbank 54_36p -1 validated missense c.3236 p.I1079T 0.99 superfamily_Quinoprotein alcohol dehydrogenase-like "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_ACP-like,HMMPfam_PP-binding,superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ" - no_errors AASDH 132949 genome.wustl.edu 36 4 56910752 56910752 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56910752 56910752 C A SNP AASDH NM_181806 human genbank 54_36p -1 validated missense c.1922 p.S641I 0 NULL "HMMPfam_AMP-binding,HMMPfam_PQQ,HMMPfam_PP-binding,superfamily_ACP-like,superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like" - no_errors AASDH 132949 genome.wustl.edu 36 4 56912295 56912295 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56912295 56912295 G T SNP AASDH NM_181806 human genbank 54_36p -1 validated missense c.1662 p.D554E 1 "superfamily_ACP-like,superfamily_Acetyl-CoA synthetase-like" "HMMPfam_AMP-binding,HMMPfam_PQQ,HMMPfam_PP-binding,superfamily_ACP-like,superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like" - no_errors AASDH 132949 genome.wustl.edu 36 4 56915021 56915021 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 56915021 56915021 G A SNP AASDH NM_181806 human genbank 54_36p -1 validated nonsense c.1324 p.R442* 0.97 "HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like" "HMMPfam_AMP-binding,HMMPfam_PQQ,HMMPfam_PP-binding,superfamily_ACP-like,superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like" - no_errors POLR2B 5431 genome.wustl.edu 36 4 57560554 57560554 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 57560554 57560554 T A SNP POLR2B NM_000938 human genbank 54_36p 1 reviewed missense c.750 p.S250R 1 "superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2" ############################################################################################################################################################################################################################################################### - no_errors POLR2B 5431 genome.wustl.edu 36 4 57578609 57578609 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 57578609 57578609 A T SNP POLR2B NM_000938 human genbank 54_36p 1 reviewed missense c.2281 p.T761S 1 "HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase" ############################################################################################################################################################################################################################################################### - no_errors EVC 2121 genome.wustl.edu 36 4 5784250 5784250 + Silent SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 5784250 5784250 G T SNP EVC NM_153717 human genbank 54_36p 1 reviewed silent c.582 p.R194 0.04 NULL NULL - no_errors CRMP1 1400 genome.wustl.edu 36 4 5893964 5893964 + Silent SNP G A A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 5893964 5893964 G A SNP CRMP1 NM_001014809 human genbank 54_36p -1 reviewed silent c.1125 p.A375 0.25 "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" - no_errors LPHN3 23284 genome.wustl.edu 36 4 62281453 62281453 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 62281453 62281453 T A SNP LPHN3 NM_015236 human genbank 54_36p 1 reviewed missense c.781 p.S261T 1 "HMMPfam_OLF,HMMSmart_OLF" "HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_OLF,HMMSmart_HormR,HMMPfam_HRM,superfamily_SSF81321,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin" - no_errors LPHN3 23284 genome.wustl.edu 36 4 62483220 62483220 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 62483220 62483220 C G SNP LPHN3 NM_015236 human genbank 54_36p 1 reviewed missense c.1976 p.T659R 0.53 superfamily_SSF81321 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,HMMPfam_Gal_Lectin,HMMPfam_HRM,HMMSmart_HormR,HMMPfam_OLF,HMMSmart_OLF,HMMPfam_Latrophilin,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF81321" - no_errors LPHN3 23284 genome.wustl.edu 36 4 62495359 62495359 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 62495359 62495359 C G SNP LPHN3 NM_015236 human genbank 54_36p 1 reviewed missense c.2348 p.T783R 1 superfamily_SSF81321 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,HMMPfam_Gal_Lectin,HMMPfam_HRM,HMMSmart_HormR,HMMPfam_OLF,HMMSmart_OLF,HMMPfam_Latrophilin,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF81321" - no_errors LPHN3 23284 genome.wustl.edu 36 4 62496566 62496566 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 62496566 62496566 C G SNP LPHN3 NM_015236 human genbank 54_36p 1 reviewed missense c.2578 p.L860V 0.99 "HMMPfam_GPS,HMMSmart_GPS,superfamily_SSF81321" "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,HMMPfam_Gal_Lectin,HMMPfam_HRM,HMMSmart_HormR,HMMPfam_OLF,HMMSmart_OLF,HMMPfam_Latrophilin,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF81321" - no_errors LOC391656 391656 genome.wustl.edu 36 4 62654107 62654108 + Nonsense_Mutation DNP CT CT AA novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 CT CT CT AA CT CT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 62654107 62654108 CT AA DNP LOC391656 XM_373027 human genbank 54_36p -1 model nonsense c.256_255 p.EK86* 1.000:1.000 "superfamily_Ribosomal protein S8,HMMPfam_Ribosomal_S8" "superfamily_Ribosomal protein S8,HMMPfam_Ribosomal_S8" - pseudogene LOC644556 644556 genome.wustl.edu 36 4 63366880 63366880 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 63366880 63366880 G A SNP LOC644556 XM_001719457 human genbank 54_36p 1 model missense c.814 p.D272N 1 HMMPfam_Sec10 HMMPfam_Sec10 - no_errors LOC644578 644578 genome.wustl.edu 36 4 63899106 63899106 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 63899106 63899106 G A SNP LOC644578 XM_927694 human genbank 54_36p 1 model missense c.844 p.E282K 0.98 "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715" "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" - no_errors EPHA5 2044 genome.wustl.edu 36 4 65925337 65925337 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 65925337 65925337 G A SNP EPHA5 NM_004439 human genbank 54_36p -1 reviewed silent c.1830 p.C610 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LOC339970 339970 genome.wustl.edu 36 4 68587375 68587375 + RNA SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 68587375 68587375 G A SNP LOC339970 XR_038239 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene UGT2B17 7367 genome.wustl.edu 36 4 69116210 69116210 + Silent SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 69116210 69116210 A G SNP UGT2B17 NM_001077 human genbank 54_36p -1 provisional silent c.588 p.P196 0.96 "superfamily_SSF53756,HMMPfam_UDPGT" "superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors KIAA0232 9778 genome.wustl.edu 36 4 6913767 6913767 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 6913767 6913767 A T SNP KIAA0232 NM_001100590 human genbank 54_36p 1 validated missense c.757 p.N253Y 0 NULL NULL - no_errors UGT2B10 7365 genome.wustl.edu 36 4 69727856 69727856 + Splice_Site SNP G G C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 69727856 69727856 G C SNP UGT2B10 NM_001075 human genbank 54_36p 1 validated splice_site c.1307+1 e5+1 1 - - - no_errors UGT2A3 79799 genome.wustl.edu 36 4 69851681 69851681 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 69851681 69851681 G C SNP UGT2A3 NM_024743 human genbank 54_36p -1 validated missense c.387 p.I129M 0 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "PatternScan_HMA_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT2B11 10720 genome.wustl.edu 36 4 70114743 70114743 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 70114743 70114743 C G SNP UGT2B11 NM_001073 human genbank 54_36p -1 provisional missense c.287 p.R96T 0.01 "superfamily_SSF53756,HMMPfam_UDPGT" "superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors TBC1D14 57533 genome.wustl.edu 36 4 7046811 7046811 + Splice_Site SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 7046811 7046811 G C SNP TBC1D14 NM_020773 human genbank 54_36p 1 validated splice_site c.799-1 e3-1 1 - - - no_errors UGT2A1 10941 genome.wustl.edu 36 4 70499620 70499620 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 70499620 70499620 C T SNP UGT2A1 NM_006798 human genbank 54_36p -1 validated missense c.797 p.R266H 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors HTN3 3347 genome.wustl.edu 36 4 70931083 70931083 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 70931083 70931083 A T SNP HTN3 NM_000200 human genbank 54_36p 1 reviewed missense c.37 p.M13L 0.03 NULL NULL - no_errors ODAM 54959 genome.wustl.edu 36 4 71100839 71100839 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71100839 71100839 T G SNP ODAM NM_017855 human genbank 54_36p 1 validated missense c.460 p.W154G 0.99 NULL NULL - no_errors CSN3 1448 genome.wustl.edu 36 4 71149395 71149395 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71149395 71149395 C A SNP CSN3 NM_005212 human genbank 54_36p 1 validated missense c.179 p.T60N 0 HMMPfam_Casein_kappa HMMPfam_Casein_kappa - no_errors C4orf35 85438 genome.wustl.edu 36 4 71235833 71235833 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71235833 71235833 C G SNP C4orf35 NM_033122 human genbank 54_36p 1 validated missense c.488 p.S163C 0 NULL NULL - no_errors C4orf35 85438 genome.wustl.edu 36 4 71236407 71236407 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71236407 71236407 G C SNP C4orf35 NM_033122 human genbank 54_36p 1 validated missense c.1062 p.K354N 0 NULL NULL - no_errors MUC7 4589 genome.wustl.edu 36 4 71381416 71381416 + Silent SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71381416 71381416 A G SNP MUC7 NM_152291 human genbank 54_36p 1 reviewed silent c.366 p.K122 0 NULL NULL - no_errors AMBN 258 genome.wustl.edu 36 4 71506708 71506708 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71506708 71506708 C A SNP AMBN NM_016519 human genbank 54_36p 1 reviewed missense c.1016 p.P339Q 0.04 "HMMPfam_Amelin,HMMSmart_SM00817" "HMMPfam_Amelin,HMMSmart_SM00817" - no_errors ENAM 10117 genome.wustl.edu 36 4 71728831 71728831 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71728831 71728831 C G SNP ENAM NM_031889 human genbank 54_36p 1 validated missense c.2824 p.Q942E 0.01 NULL NULL - no_errors DCK 1633 genome.wustl.edu 36 4 72106954 72106954 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 72106954 72106954 A G SNP DCK NM_000788 human genbank 54_36p 1 reviewed missense c.214 p.T72A 1 superfamily_SSF52540 "superfamily_SSF52540,HMMPfam_dNK" - no_errors SLC4A4 8671 genome.wustl.edu 36 4 72535849 72535849 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 72535849 72535849 A T SNP SLC4A4 NM_001098484 human genbank 54_36p 1 reviewed missense c.1289 p.H430L 1 NULL "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors GC 2638 genome.wustl.edu 36 4 72848437 72848437 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 72848437 72848437 A G SNP GC NM_000583 human genbank 54_36p -1 reviewed missense c.554 p.M185T 1 "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like,PatternScan_ALBUMIN" "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like,PatternScan_ALBUMIN,HMMPfam_VitD-bind_III" - no_errors NPFFR2 10886 genome.wustl.edu 36 4 73232187 73232187 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 73232187 73232187 T C SNP NPFFR2 NM_004885 human genbank 54_36p 1 reviewed missense c.1363 p.C455R 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ADAMTS3 9508 genome.wustl.edu 36 4 73390622 73390622 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 73390622 73390622 G C SNP ADAMTS3 NM_014243 human genbank 54_36p -1 reviewed missense c.2206 p.P736A 1 HMMPfam_ADAM_spacer1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ANKRD17 26057 genome.wustl.edu 36 4 74169891 74169891 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 74169891 74169891 G A SNP ANKRD17 NM_032217 human genbank 54_36p -1 reviewed silent c.7098 p.N2366 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_MutS_V,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" - no_errors ANKRD17 26057 genome.wustl.edu 36 4 74175270 74175270 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 74175270 74175270 C G SNP ANKRD17 NM_032217 human genbank 54_36p -1 reviewed missense c.6939 p.Q2313H 1 NULL "HMMPfam_MutS_V,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors ALB 213 genome.wustl.edu 36 4 74493974 74493974 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 74493974 74493974 A T SNP ALB NM_000477 human genbank 54_36p 1 reviewed missense c.521 p.Y174F 1 "superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103" "PatternScan_ALBUMIN,superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103" - no_errors ALB 213 genome.wustl.edu 36 4 74494978 74494978 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 74494978 74494978 C A SNP ALB NM_000477 human genbank 54_36p 1 reviewed missense c.701 p.A234D 1 "superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103" "PatternScan_ALBUMIN,superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103" - no_errors AFP 174 genome.wustl.edu 36 4 74529625 74529625 + Silent SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 74529625 74529625 C T SNP AFP NM_001134 human genbank 54_36p 1 reviewed silent c.765 p.I255 0.17 "HMMSmart_ALBUMIN,HMMPfam_Serum_albumin,superfamily_Serum_albumin" "HMMSmart_ALBUMIN,HMMPfam_Serum_albumin,superfamily_Serum_albumin,PatternScan_ALBUMIN" - no_errors IL8 3576 genome.wustl.edu 36 4 74826153 74826153 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 74826153 74826153 T A SNP IL8 NM_000584 human genbank 54_36p 1 reviewed missense c.95 p.L32H 0.99 "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199" "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC" - no_errors PPBP 5473 genome.wustl.edu 36 4 75072542 75072542 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 75072542 75072542 C A SNP PPBP NM_002704 human genbank 54_36p -1 reviewed missense c.143 p.G48V 0 NULL "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC" - no_errors PPBP 5473 genome.wustl.edu 36 4 75072567 75072567 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 75072567 75072567 G T SNP PPBP NM_002704 human genbank 54_36p -1 reviewed missense c.118 p.Q40K 0.01 NULL "HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC" - no_errors MTHFD2L 441024 genome.wustl.edu 36 4 75259197 75259197 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 75259197 75259197 G T SNP MTHFD2L ENST00000325278 human ensembl 54_36p 1 known missense c.80 p.S27I 1 "superfamily_Aminoacid dehydrogenase-like N-terminal domain,HMMPfam_THF_DHG_CYH" "superfamily_Aminoacid dehydrogenase-like N-terminal domain,HMMPfam_THF_DHG_CYH,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_THF_DHG_CYH_C,PatternScan_THF_DHG_CYH_2" - no_errors PARM1 25849 genome.wustl.edu 36 4 76156925 76156925 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 76156925 76156925 C G SNP DKFZP564O0823 NM_015393 human genbank 54_36p 1 validated missense c.310 p.P104A 0.01 NULL NULL - no_errors PPEF2 5470 genome.wustl.edu 36 4 77030294 77030294 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 77030294 77030294 C T SNP PPEF2 NM_006239 human genbank 54_36p -1 reviewed missense c.257 p.R86H 1 HMMPfam_PPP5 "HMMPfam_IQ,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE,HMMSmart_SM00054,superfamily_EF-hand,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors NUP54 53371 genome.wustl.edu 36 4 77270860 77270860 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 77270860 77270860 C T SNP NUP54 NM_017426 human genbank 54_36p -1 reviewed missense c.1029 p.M343I 1 NULL NULL - no_errors STBD1 8987 genome.wustl.edu 36 4 77449958 77449958 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 77449958 77449958 C A SNP STBD1 NM_003943 human genbank 54_36p 1 validated missense c.858 p.D286E 1 "superfamily_Starch-binding domain-like,HMMPfam_CBM_20" "superfamily_Starch-binding domain-like,HMMPfam_CBM_20" - no_errors SORCS2 57537 genome.wustl.edu 36 4 7756820 7756820 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 7756820 7756820 G A SNP SORCS2 NM_020777 human genbank 54_36p 1 reviewed missense c.1327 p.G443S 1 "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602" "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PKD" - no_errors SHROOM3 57619 genome.wustl.edu 36 4 77880205 77880214 + Frame_Shift_Del DEL TCTTCCAGGC TCTTCCAGGC - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 TCTTCCAGGC TCTTCCAGGC TCTTCCAGGC - TCTTCCAGGC TCTTCCAGGC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 77880205 77880214 TCTTCCAGGC - DEL SHROOM3 NM_020859 human genbank 54_36p 1 validated frame_shift_del c.1852_1861 p.S619fs 0.000:0.002:0.010:0.013:0.000:0.000:0.000:0.003:0.024:0.021 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2" "(deletion:cds_exon[77878938,77882103])" no_errors CCNG2 901 genome.wustl.edu 36 4 78306068 78306068 + Silent SNP C T T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 78306068 78306068 C T SNP CCNG2 NM_004354 human genbank 54_36p 1 reviewed silent c.1002 p.F334 0.97 NULL "superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_Cyclin_N" - no_errors FRAS1 80144 genome.wustl.edu 36 4 79377709 79377709 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 79377709 79377709 G A SNP FRAS1 ENST00000380674 human ensembl 54_36p 1 known missense c.130 p.D44N 1 "HMMSmart_SM00214,HMMSmart_SM00215" "HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181,HMMSmart_SM00237,HMMPfam_Calx-beta" - no_errors FRAS1 80144 genome.wustl.edu 36 4 79514397 79514397 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 79514397 79514397 A T SNP FRAS1 ENST00000380674 human ensembl 54_36p 1 known missense c.3119 p.Y1040F 0.99 "HMMSmart_SM00261,superfamily_Growth factor receptor domain" "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00181,HMMSmart_SM00261,HMMSmart_SM00215,superfamily_Growth factor receptor domain" - no_errors FRAS1 80144 genome.wustl.edu 36 4 79570543 79570543 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 79570543 79570543 G A SNP FRAS1 ENST00000380674 human ensembl 54_36p 1 known silent c.4917 p.Q1639 0.35 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00181,HMMSmart_SM00261,HMMSmart_SM00215,superfamily_Growth factor receptor domain" - no_errors BMP2K 55589 genome.wustl.edu 36 4 80005746 80005746 + Missense_Mutation SNP C G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 4 80005746 80005746 C G SNP BMP2K NM_198892 human genbank 54_36p 1 reviewed missense c.1079 p.T360S 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" - no_errors ANTXR2 118429 genome.wustl.edu 36 4 81171861 81171861 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 81171861 81171861 G A SNP ANTXR2 NM_058172 human genbank 54_36p -1 reviewed missense c.806 p.P269L 0.9 HMMPfam_Anth_Ig "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Anth_Ig,HMMPfam_Ant_C" - no_errors FGF5 2250 genome.wustl.edu 36 4 81407214 81407214 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 81407214 81407214 G T SNP FGF5 NM_004464 human genbank 54_36p 1 reviewed missense c.212 p.G71V 0.67 NULL "superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors BMP3 651 genome.wustl.edu 36 4 82186049 82186049 + Silent SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 82186049 82186049 A G SNP BMP3 NM_001201 human genbank 54_36p 1 reviewed silent c.450 p.G150 0.01 NULL "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors HTRA3 94031 genome.wustl.edu 36 4 8356898 8356898 + Silent SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8356898 8356898 T G SNP HTRA3 NM_053044 human genbank 54_36p 1 provisional silent c.1188 p.P396 1 "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" "HMMSmart_SM00121,HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" - no_errors LOC442113 442113 genome.wustl.edu 36 4 83721089 83721089 + RNA SNP A A G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 83721089 83721089 A G SNP LOC442113 XR_016390 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene SCD5 79966 genome.wustl.edu 36 4 83845532 83845532 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 83845532 83845532 C T SNP SCD5 NM_001037582 human genbank 54_36p -1 validated nonsense c.291 p.W97* 1 HMMPfam_FA_desaturase "HMMPfam_FA_desaturase,PatternScan_FATTY_ACID_DESATUR_1" - no_errors HPSE 10855 genome.wustl.edu 36 4 84450939 84450939 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 84450939 84450939 C T SNP HPSE NM_001098540 human genbank 54_36p -1 validated missense c.802 p.V268I 0.51 "superfamily_(Trans)glycosidases,HMMPfam_Glyco_hydro_79n" "superfamily_(Trans)glycosidases,HMMPfam_Glyco_hydro_79n" - no_errors HELQ 113510 genome.wustl.edu 36 4 84556968 84556968 + Silent SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 84556968 84556968 G C SNP HELQ NM_133636 human genbank 54_36p -1 validated silent c.3138 p.L1046 0.93 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors C4orf23 152992 genome.wustl.edu 36 4 8516628 8516628 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8516628 8516628 C T SNP C4orf23 NM_152544 human genbank 54_36p 1 predicted missense c.44 p.P15L 0.66 HMMPfam_AdoMet_MTase HMMPfam_AdoMet_MTase - no_errors C4orf23 152992 genome.wustl.edu 36 4 8516718 8516718 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8516718 8516718 G T SNP C4orf23 NM_152544 human genbank 54_36p 1 predicted missense c.134 p.R45M 1 HMMPfam_AdoMet_MTase HMMPfam_AdoMet_MTase - no_errors LOC152845 152845 genome.wustl.edu 36 4 85385689 85385689 + RNA SNP T T C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 85385689 85385689 T C SNP LOC152845 XR_038721 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene GPR78 27201 genome.wustl.edu 36 4 8633792 8633792 + Silent SNP C T T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8633792 8633792 C T SNP GPR78 NM_080819 human genbank 54_36p 1 validated silent c.183 p.P61 0.99 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR78 27201 genome.wustl.edu 36 4 8635215 8635215 + Missense_Mutation SNP G T T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8635215 8635215 G T SNP GPR78 NM_080819 human genbank 54_36p 1 validated missense c.726 p.K242N 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors CPZ 8532 genome.wustl.edu 36 4 8659894 8659894 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8659894 8659894 G T SNP CPZ NM_001014447 human genbank 54_36p 1 reviewed missense c.1069 p.V357L 1 "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,HMMSmart_SM00631" "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Carboxypeptidase regulatory domain" - no_errors CPZ 8532 genome.wustl.edu 36 4 8660021 8660023 + In_Frame_Del DEL AGA AGA - novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 AGA AGA AGA - AGA AGA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8660021 8660023 AGA - DEL CPZ NM_001014447 human genbank 54_36p 1 reviewed in_frame_del c.1196_1198 p.K400in_frame_del 0.997:0.977:0.997 "HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases" "superfamily_Frizzled cysteine-rich domain,HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Carboxypeptidase regulatory domain,HMMPfam_Fz,HMMSmart_SM00063,superfamily_Zn-dependent exopeptidases" "(deletion:cds_exon[8659894,8660052])" no_errors PTPN13 5783 genome.wustl.edu 36 4 87874919 87874919 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 87874919 87874919 C T SNP PTPN13 NM_080685 human genbank 54_36p 1 reviewed missense c.2018 p.T673I 0.82 "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" ############################################################################################################################################################################################################################################################### - no_errors PTPN13 5783 genome.wustl.edu 36 4 87899222 87899222 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 87899222 87899222 C G SNP PTPN13 NM_080685 human genbank 54_36p 1 reviewed missense c.3525 p.I1175M 1 "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ" ############################################################################################################################################################################################################################################################### - no_errors PTPN13 5783 genome.wustl.edu 36 4 87949965 87949965 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 87949965 87949965 T C SNP PTPN13 NM_080685 human genbank 54_36p 1 reviewed missense c.7118 p.I2373T 0.57 "HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799" ############################################################################################################################################################################################################################################################### - no_errors SPP1 6696 genome.wustl.edu 36 4 89122812 89122812 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 89122812 89122812 C A SNP SPP1 NM_001040058 human genbank 54_36p 1 validated missense c.685 p.Q229K 0.37 "HMMPfam_Osteopontin,HMMSmart_SM00017" "HMMPfam_Osteopontin,HMMSmart_SM00017,PatternScan_OSTEOPONTIN" - no_errors HERC5 51191 genome.wustl.edu 36 4 89626399 89626399 + Silent SNP T C C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 89626399 89626399 T C SNP HERC5 NM_016323 human genbank 54_36p 1 reviewed silent c.1848 p.T616 0 NULL "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors GPRIN3 285513 genome.wustl.edu 36 4 90388767 90388767 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 90388767 90388767 G T SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated missense c.1518 p.D506E 0 NULL NULL - no_errors MMRN1 22915 genome.wustl.edu 36 4 91035171 91035171 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 91035171 91035171 T C SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed missense c.26 p.L9P 0.57 NULL "HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" - no_errors MMRN1 22915 genome.wustl.edu 36 4 91076033 91076033 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 91076033 91076033 G A SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed missense c.2179 p.G727S 1 NULL "PatternScan_ASX_HYDROXYL,HMMPfam_C1q,HMMSmart_SM00110,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_TNF-like,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors GRID2 2895 genome.wustl.edu 36 4 94225441 94225441 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 94225441 94225441 G T SNP GRID2 NM_001510 human genbank 54_36p 1 validated missense c.517 p.D173Y 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors SLC2A9 56606 genome.wustl.edu 36 4 9518987 9518987 + Silent SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 9518987 9518987 C A SNP SLC2A9 NM_020041 human genbank 54_36p -1 reviewed silent c.1083 p.G361 0.12 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SMARCAD1 56916 genome.wustl.edu 36 4 95374277 95374277 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 95374277 95374277 G A SNP SMARCAD1 NM_020159 human genbank 54_36p 1 validated missense c.518 p.S173N 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors HPGDS 27306 genome.wustl.edu 36 4 95458112 95458112 + Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 95458112 95458112 A - DEL PGDS NM_014485 human genbank 54_36p -1 reviewed frame_shift_del c.161 p.L54fs 1 "superfamily_Thioredoxin-like,HMMPfam_GST_N" "superfamily_Thioredoxin-like,HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C" "(deletion:cds_exon[95458047,95458139])" no_errors SLC2A9 56606 genome.wustl.edu 36 4 9596452 9596452 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 9596452 9596452 C T SNP SLC2A9 NM_020041 human genbank 54_36p -1 reviewed silent c.474 p.S158 0 "HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter" "HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter" - no_errors WDR1 9948 genome.wustl.edu 36 4 9688109 9688109 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 9688109 9688109 T C SNP WDR1 NM_017491 human genbank 54_36p -1 reviewed missense c.1631 p.N544S 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LOC642424 642424 genome.wustl.edu 36 10 42000954 42000954 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 42000954 42000954 G C SNP LOC642424 XM_001717196 human genbank 54_36p 1 model missense c.413 p.R138T 0.84 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors ENSG00000186223 0 genome.wustl.edu 36 11 4220394 4220394 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4220394 4220394 C A SNP ENSG00000186223 ENST00000334071 human ensembl 54_36p -1 known missense c.53 p.R18M 1 "superfamily_Tyr_Pase_low_mol_wt,HMMPfam_Ssu72" "superfamily_Tyr_Pase_low_mol_wt,HMMPfam_Ssu72" - no_errors LOC100129622 100129622 genome.wustl.edu 36 10 42552611 42552611 + Splice_Site SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 42552611 42552611 G A SNP LOC100129622 XM_001724175 human genbank 54_36p 1 model splice_site c.463+1 e4+1 1 - - - pseudogene FAM183A 440585 genome.wustl.edu 36 1 43391135 43391135 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43391135 43391135 G T SNP FAM183A NM_001101376 human genbank 54_36p 1 validated missense c.243 p.K81N 1 NULL NULL - no_errors CYP2A7P1 1550 genome.wustl.edu 36 19 46224893 46224893 + Silent SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46224893 46224893 G A SNP CYP2A7P1 ENST00000301171 human ensembl 54_36p -1 known silent c.297 p.S99 0.42 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450" - no_stop_codon CYP2A7P1 1550 genome.wustl.edu 36 19 46224937 46224937 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46224937 46224937 C T SNP CYP2A7P1 ENST00000301171 human ensembl 54_36p -1 known missense c.253 p.D85N 0.79 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450" - no_stop_codon CYP2A7P1 1550 genome.wustl.edu 36 19 46225384 46225384 + Silent SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 46225384 46225384 C T SNP CYP2A7P1 ENST00000301171 human ensembl 54_36p -1 known silent c.84 p.K28 0.01 NULL "HMMPfam_p450,superfamily_Cytochrome_P450" - no_stop_codon FAM35B 414241 genome.wustl.edu 36 10 46347869 46347869 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 46347869 46347869 A C SNP FAM35B ENST00000301038 human ensembl 54_36p 1 known missense c.382 p.S128R 0.67 NULL NULL - no_errors FAM35B2 439965 genome.wustl.edu 36 10 46836889 46836889 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 46836889 46836889 G C SNP FAM35B2 ENST00000342900 human ensembl 54_36p 1 known missense c.1381 p.D461H 0.4 NULL NULL - no_start_codon MIR7-3 407045 genome.wustl.edu 36 19 4721690 4721690 + RNA SNP G G C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 4721690 4721690 G C SNP MIRN7-3 ENST00000384898 human ensembl 54_36p 1 known rna NULL NULL 0 - - - no_errors OR4C2P 119750 genome.wustl.edu 36 11 48398865 48398865 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48398865 48398865 C T SNP OR4C2P ENST00000330155 human ensembl 54_36p 1 known missense c.494 p.P165L 0.68 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors ENSG00000202582 0 genome.wustl.edu 36 12 48558661 48558661 + Missense_Mutation SNP T C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T C T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 12 48558661 48558661 T C SNP ENSG00000202582 ENST00000380242 human ensembl 54_36p -1 known missense c.341 p.Y114C 0 NULL NULL - no_errors ENSG00000205035 0 genome.wustl.edu 36 11 49554657 49554657 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49554657 49554657 T A SNP ENSG00000205035 ENST00000357667 human ensembl 54_36p 1 novel missense c.284 p.I95K 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" - no_start_codon:no_stop_codon ENSG00000205035 0 genome.wustl.edu 36 11 49554660 49554660 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49554660 49554660 G A SNP ENSG00000205035 ENST00000357667 human ensembl 54_36p 1 novel missense c.287 p.R96K 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" - no_start_codon:no_stop_codon CAMK4 814 genome.wustl.edu 36 5 110758356 110758356 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 110758356 110758356 A G SNP CAMK4 NM_001744 human genbank 54_36p 1 reviewed missense c.436 p.K146E 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SNORA13 654322 genome.wustl.edu 36 5 111525088 111525088 + RNA SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 111525088 111525088 G C SNP SNORA13 NR_002922 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors APC 324 genome.wustl.edu 36 5 112202549 112202549 + Missense_Mutation SNP G G A rs28933379 Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 112202549 112202549 G A SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.3359 p.G1120E 1 NULL "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding" - no_errors APC 324 genome.wustl.edu 36 5 112205204 112205204 + Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 112205204 112205204 C G SNP APC NM_000038 human genbank 54_36p 1 reviewed nonsense c.6014 p.S2005* 0.66 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors TSSK1B 83942 genome.wustl.edu 36 5 112797869 112797869 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 112797869 112797869 G A SNP TSSK1B NM_032028 human genbank 54_36p -1 provisional silent c.567 p.G189 0.74 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CTNND2 1501 genome.wustl.edu 36 5 11450167 11450167 + Silent SNP T T C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 11450167 11450167 T C SNP CTNND2 NM_001332 human genbank 54_36p -1 validated silent c.588 p.R196 1 NULL "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors FEM1C 56929 genome.wustl.edu 36 5 114906776 114906776 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 114906776 114906776 T C SNP FEM1C NM_020177 human genbank 54_36p -1 validated missense c.314 p.H105R 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors LVRN 206338 genome.wustl.edu 36 5 115326342 115326342 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 115326342 115326342 C T SNP LVRN NM_173800 human genbank 54_36p 1 validated silent c.129 p.V43 0.03 NULL "superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors LVRN 206338 genome.wustl.edu 36 5 115351451 115351451 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 115351451 115351451 G T SNP LVRN NM_173800 human genbank 54_36p 1 validated missense c.1021 p.A341S 0.72 "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain" - no_errors LVRN 206338 genome.wustl.edu 36 5 115364028 115364028 + Splice_Site SNP G G C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 115364028 115364028 G C SNP LVRN NM_173800 human genbank 54_36p 1 validated splice_site c.1516-1 e8-1 1 - - - no_errors COMMD10 51397 genome.wustl.edu 36 5 115456227 115456227 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 115456227 115456227 C T SNP COMMD10 NM_016144 human genbank 54_36p 1 provisional silent c.330 p.V110 0.5 HMMPfam_HCaRG HMMPfam_HCaRG - no_errors SEMA6A 57556 genome.wustl.edu 36 5 115855347 115855347 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 115855347 115855347 C T SNP SEMA6A NM_020796 human genbank 54_36p -1 validated missense c.523 p.A175T 1 "superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema" "superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,HMMPfam_PSI,superfamily_Plexin repeat,HMMSmart_SM00423" - no_errors SEMA6A 57556 genome.wustl.edu 36 5 115868492 115868492 + Silent SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 115868492 115868492 A C SNP SEMA6A NM_020796 human genbank 54_36p -1 validated silent c.48 p.A16 1 NULL "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat" - no_errors DMXL1 1657 genome.wustl.edu 36 5 118513074 118513074 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 118513074 118513074 C G SNP DMXL1 NM_005509 human genbank 54_36p 1 validated missense c.3653 p.S1218C 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_SUBTILASE_ASP,PatternScan_WD_REPEATS_1" - no_errors ZNF608 57507 genome.wustl.edu 36 5 124011782 124011782 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 124011782 124011782 G C SNP ZNF608 NM_020747 human genbank 54_36p -1 validated missense c.2194 p.L732V 0.99 NULL PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF608 57507 genome.wustl.edu 36 5 124012207 124012207 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 124012207 124012207 T A SNP ZNF608 NM_020747 human genbank 54_36p -1 validated missense c.1769 p.D590V 1 NULL PatternScan_ZINC_FINGER_C2H2_1 - no_errors MEGF10 84466 genome.wustl.edu 36 5 126760282 126760282 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 126760282 126760282 G C SNP MEGF10 NM_032446 human genbank 54_36p 1 validated missense c.572 p.C191S 1 "HMMSmart_SM00180,HMMPfam_Laminin_EGF,superfamily_EGF/Laminin,HMMSmart_SM00181" "HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00180,HMMPfam_Laminin_EGF,HMMPfam_EGF_2,superfamily_Plant inhibitors of proteinases and amylases" - no_errors MEGF10 84466 genome.wustl.edu 36 5 126786259 126786259 + Splice_Site SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 126786259 126786259 A T SNP MEGF10 NM_032446 human genbank 54_36p 1 validated splice_site c.1591-2 e12-2 1 - - - no_errors MEGF10 84466 genome.wustl.edu 36 5 126820869 126820869 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 126820869 126820869 G C SNP MEGF10 NM_032446 human genbank 54_36p 1 validated missense c.3383 p.S1128T 0.01 NULL "HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_Plant inhibitors of proteinases and amylases,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin" - no_errors SLC12A2 6558 genome.wustl.edu 36 5 127512432 127512432 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 127512432 127512432 T G SNP SLC12A2 NM_001046 human genbank 54_36p 1 validated missense c.1969 p.L657V 1 HMMPfam_AA_permease "HMMPfam_AA_permease_N,HMMPfam_AA_permease" - no_errors SLC12A2 6558 genome.wustl.edu 36 5 127514866 127514866 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 127514866 127514866 G T SNP SLC12A2 NM_001046 human genbank 54_36p 1 validated missense c.2142 p.W714C 1 HMMPfam_AA_permease "HMMPfam_AA_permease,HMMPfam_AA_permease_N" - no_errors FBN2 2201 genome.wustl.edu 36 5 127698789 127698789 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 127698789 127698789 C T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.3945 p.M1315I 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 genome.wustl.edu 36 5 127709144 127709144 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 127709144 127709144 C A SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.3021 p.W1007C 1 "superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 genome.wustl.edu 36 5 127882885 127882885 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 127882885 127882885 G T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.608 p.T203N 1 "HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors ADAMTS19 171019 genome.wustl.edu 36 5 129065169 129065169 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 129065169 129065169 G A SNP ADAMTS19 NM_133638 human genbank 54_36p 1 reviewed silent c.3126 p.A1042 0.62 "superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors FNIP1 96459 genome.wustl.edu 36 5 131042725 131042725 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 131042725 131042725 T G SNP FNIP1 NM_133372 human genbank 54_36p -1 validated missense c.1245 p.E415D 1 NULL NULL - no_errors IL3 3562 genome.wustl.edu 36 5 131426144 131426144 + Silent SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 131426144 131426144 C A SNP IL3 NM_000588 human genbank 54_36p 1 reviewed silent c.321 p.A107 0 "HMMPfam_IL3,superfamily_4_helix_cytokine" "HMMPfam_IL3,superfamily_4_helix_cytokine" - no_errors PDLIM4 8572 genome.wustl.edu 36 5 131635725 131635725 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 131635725 131635725 G A SNP PDLIM4 NM_003687 human genbank 54_36p 1 validated silent c.897 p.R299 0.99 "HMMSmart_SM00132,HMMPfam_LIM" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors IL13 3596 genome.wustl.edu 36 5 132021929 132021929 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 132021929 132021929 T G SNP IL13 NM_002188 human genbank 54_36p 1 reviewed missense c.152 p.V51G 0.03 "HMMPfam_IL13,HMMSmart_SM00190,superfamily_4-helical cytokines,PatternScan_INTERLEUKIN_4_13" "HMMPfam_IL13,HMMSmart_SM00190,superfamily_4-helical cytokines,PatternScan_INTERLEUKIN_4_13" - no_errors SEPT8 23176 genome.wustl.edu 36 5 132126087 132126087 + Silent SNP G G A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 132126087 132126087 G A SNP SEPT8 NM_001098811 human genbank 54_36p -1 validated silent c.684 p.N228 0.98 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Septin" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Septin" - no_errors TERT 7015 genome.wustl.edu 36 5 1333401 1333401 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 1333401 1333401 G T SNP TERT NM_198253 human genbank 54_36p -1 reviewed missense c.1822 p.Q608K 0 superfamily_DNA/RNA polymerases superfamily_DNA/RNA polymerases - no_errors PPP2CA 5515 genome.wustl.edu 36 5 133565562 133565562 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 133565562 133565562 C G SNP PPP2CA NM_002715 human genbank 54_36p -1 reviewed missense c.362 p.R121T 1 "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos" "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE" - no_errors LECT2 3950 genome.wustl.edu 36 5 135314874 135314874 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 135314874 135314874 C G SNP LECT2 NM_002302 human genbank 54_36p -1 reviewed missense c.226 p.G76R 0.22 HMMPfam_Peptidase_M23 HMMPfam_Peptidase_M23 - no_errors TRPC7 57113 genome.wustl.edu 36 5 135720346 135720346 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 135720346 135720346 T A SNP TRPC7 ENST00000265193 human ensembl 54_36p -1 known missense c.626 p.D209V 1 HMMPfam_TRP_2 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans" - no_errors SPOCK1 6695 genome.wustl.edu 36 5 136356177 136356177 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 136356177 136356177 T G SNP SPOCK1 NM_004598 human genbank 54_36p -1 reviewed missense c.601 p.K201Q 1 "HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473" "superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473,superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY" - no_errors WNT8A 7478 genome.wustl.edu 36 5 137447842 137447842 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 137447842 137447842 G C SNP WNT8A NM_058244 human genbank 54_36p 1 reviewed missense c.73 p.V25L 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors GFRA3 2676 genome.wustl.edu 36 5 137621427 137621427 + Silent SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 137621427 137621427 G C SNP GFRA3 NM_001496 human genbank 54_36p -1 reviewed silent c.585 p.V195 0 HMMPfam_GDNF "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" - no_errors FAM53C 51307 genome.wustl.edu 36 5 137710460 137710460 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 137710460 137710460 G T SNP FAM53C NM_016605 human genbank 54_36p 1 validated silent c.1092 p.V364 0.99 NULL NULL - no_errors KDM3B 51780 genome.wustl.edu 36 5 137755843 137755843 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 137755843 137755843 C A SNP JMJD1B NM_016604 human genbank 54_36p 1 validated missense c.2623 p.L875M 0.99 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors EGR1 1958 genome.wustl.edu 36 5 137830996 137830996 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 137830996 137830996 G A SNP EGR1 NM_001964 human genbank 54_36p 1 reviewed missense c.959 p.R320H 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ETF1 2107 genome.wustl.edu 36 5 137881173 137881173 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 137881173 137881173 C G SNP ETF1 NM_004730 human genbank 54_36p -1 validated missense c.378 p.L126F 1 "superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1,HMMPfam_eRF1_1" "superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1,HMMPfam_eRF1_1,superfamily_Translational machinery components,HMMPfam_eRF1_2,superfamily_L30e-like,HMMPfam_eRF1_3" - no_errors CTNNA1 1495 genome.wustl.edu 36 5 138146834 138146834 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 138146834 138146834 C T SNP CTNNA1 NM_001903 human genbank 54_36p 1 validated missense c.175 p.H59Y 1 "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin,PatternScan_VINCULIN_1" - no_errors DNAH5 1767 genome.wustl.edu 36 5 13822720 13822720 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 13822720 13822720 T G SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.9610 p.N3204H 1 superfamily_SSF52540 "HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH5 1767 genome.wustl.edu 36 5 13860741 13860741 + Missense_Mutation SNP T C C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 13860741 13860741 T C SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.7846 p.S2616G 1 "HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540" "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors MATR3 9782 genome.wustl.edu 36 5 138671722 138671722 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 138671722 138671722 C G SNP MATR3 NM_018834 human genbank 54_36p 1 reviewed missense c.719 p.S240W 1 NULL "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,HMMSmart_RRM,superfamily_SSF54928" - no_errors DNAH5 1767 genome.wustl.edu 36 5 13903804 13903804 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 13903804 13903804 G T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.5071 p.H1691N 1 HMMPfam_DHC_N2 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 genome.wustl.edu 36 5 13917743 13917743 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 13917743 13917743 A T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated nonsense c.4359 p.C1453* 1 HMMPfam_DHC_N2 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors PSD2 84249 genome.wustl.edu 36 5 139196765 139196765 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 139196765 139196765 A G SNP PSD2 NM_032289 human genbank 54_36p 1 provisional missense c.1589 p.K530R 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMSmart_SM00222,HMMPfam_Sec7,superfamily_Sec7 domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors DNAH5 1767 genome.wustl.edu 36 5 13947789 13947789 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 13947789 13947789 C T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.2401 p.A801T 0 HMMPfam_DHC_N1 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors ANKHD1-EIF4EBP3 404734 genome.wustl.edu 36 5 139795972 139795972 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 139795972 139795972 C T SNP ANKHD1-EIF4EBP3 NM_020690 human genbank 54_36p 1 reviewed missense c.406 p.R136C 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF54791,HMMSmart_KH,HMMPfam_KH_1" - no_errors ANKHD1-EIF4EBP3 404734 genome.wustl.edu 36 5 139883903 139883903 + Silent SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 139883903 139883903 G A SNP ANKHD1-EIF4EBP3 NM_020690 human genbank 54_36p 1 reviewed silent c.4386 p.K1462 1 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791" - no_errors ANKHD1-EIF4EBP3 404734 genome.wustl.edu 36 5 139897277 139897277 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 139897277 139897277 G A SNP ANKHD1-EIF4EBP3 NM_020690 human genbank 54_36p 1 reviewed missense c.7147 p.A2383T 1 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791" - no_errors EIF4EBP3 8637 genome.wustl.edu 36 5 139908732 139908732 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 139908732 139908732 C T SNP EIF4EBP3 NM_003732 human genbank 54_36p 1 reviewed missense c.161 p.A54V 1 HMMPfam_eIF_4EBP HMMPfam_eIF_4EBP - no_errors PCDHA2 56146 genome.wustl.edu 36 5 140154755 140154755 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140154755 140154755 G C SNP PCDHA2 NM_018905 human genbank 54_36p 1 reviewed missense c.22 p.G8R 0.05 NULL "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA2 56146 genome.wustl.edu 36 5 140156603 140156603 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140156603 140156603 G A SNP PCDHA2 NM_018905 human genbank 54_36p 1 reviewed missense c.1870 p.V624M 0.91 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA3 56145 genome.wustl.edu 36 5 140161156 140161156 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140161156 140161156 T C SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed missense c.190 p.F64L 0.95 "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA3 56145 genome.wustl.edu 36 5 140161602 140161602 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140161602 140161602 A G SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed missense c.636 p.I212M 0.62 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA3 56145 genome.wustl.edu 36 5 140162322 140162322 + Silent SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140162322 140162322 G A SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed silent c.1356 p.A452 0.85 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA3 56145 genome.wustl.edu 36 5 140162580 140162580 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140162580 140162580 C T SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed silent c.1614 p.R538 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA4 56144 genome.wustl.edu 36 5 140169017 140169017 + Silent SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140169017 140169017 G C SNP PCDHA4 NM_018907 human genbank 54_36p 1 reviewed silent c.2061 p.V687 0 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA5 56143 genome.wustl.edu 36 5 140182735 140182735 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140182735 140182735 G A SNP PCDHA5 NM_018908 human genbank 54_36p 1 reviewed silent c.1191 p.V397 0.88 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA7 56141 genome.wustl.edu 36 5 140195559 140195559 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140195559 140195559 G A SNP PCDHA7 NM_018910 human genbank 54_36p 1 reviewed silent c.1407 p.P469 0.58 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA9 9752 genome.wustl.edu 36 5 140208366 140208366 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140208366 140208366 C T SNP PCDHA9 NM_031857 human genbank 54_36p 1 reviewed silent c.102 p.S34 0.22 "superfamily_Cadherin-like,HMMPfam_Cadherin_2" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA10 56139 genome.wustl.edu 36 5 140217927 140217927 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140217927 140217927 G A SNP PCDHA10 NM_018901 human genbank 54_36p 1 reviewed missense c.2110 p.A704T 1 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA11 56138 genome.wustl.edu 36 5 140230045 140230045 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140230045 140230045 C G SNP PCDHA11 NM_018902 human genbank 54_36p 1 reviewed missense c.1173 p.H391Q 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB7 56129 genome.wustl.edu 36 5 140534337 140534337 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140534337 140534337 G A SNP PCDHB7 NM_018940 human genbank 54_36p 1 reviewed silent c.1737 p.A579 0.01 superfamily_Cadherin-like "HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112" - no_errors PCDHB16 57717 genome.wustl.edu 36 5 140542825 140542825 + Silent SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140542825 140542825 C T SNP PCDHB16 NM_020957 human genbank 54_36p 1 reviewed silent c.507 p.N169 0.02 "superfamily_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMSmart_CA,HMMPfam_Cadherin" - no_errors PCDHB9 56127 genome.wustl.edu 36 5 140547554 140547554 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140547554 140547554 C A SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.478 p.P160T 0.25 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB9 56127 genome.wustl.edu 36 5 140548416 140548416 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140548416 140548416 C T SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.1340 p.T447M 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB9 56127 genome.wustl.edu 36 5 140548599 140548599 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140548599 140548599 G C SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.1523 p.R508P 0 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB9 56127 genome.wustl.edu 36 5 140549022 140549022 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 140549022 140549022 G A SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.1946 p.S649N 0.48 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB10 56126 genome.wustl.edu 36 5 140554683 140554683 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140554683 140554683 C T SNP PCDHB10 NM_018930 human genbank 54_36p 1 reviewed nonsense c.2374 p.R792* 0 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHB11 56125 genome.wustl.edu 36 5 140560621 140560621 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140560621 140560621 G A SNP PCDHB11 NM_018931 human genbank 54_36p 1 reviewed missense c.1090 p.V364M 0 "superfamily_Cadherin,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB12 56124 genome.wustl.edu 36 5 140568714 140568714 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 140568714 140568714 C G SNP PCDHB12 NM_018932 human genbank 54_36p 1 reviewed missense c.51 p.F17L 0 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB12 56124 genome.wustl.edu 36 5 140570694 140570694 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 140570694 140570694 C T SNP PCDHB12 NM_018932 human genbank 54_36p 1 reviewed silent c.2031 p.A677 0 NULL "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB13 56123 genome.wustl.edu 36 5 140576064 140576064 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 140576064 140576064 G A SNP PCDHB13 NM_018933 human genbank 54_36p 1 reviewed missense c.2185 p.E729K 0 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB18 54660 genome.wustl.edu 36 5 140595205 140595205 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140595205 140595205 G A SNP PCDHB18 ENST00000274705 human ensembl 54_36p 1 known missense c.736 p.E246K 0.99 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHB15 56121 genome.wustl.edu 36 5 140606896 140606896 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140606896 140606896 G C SNP PCDHB15 NM_018935 human genbank 54_36p 1 reviewed missense c.1566 p.E522D 0.26 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors SLC25A2 83884 genome.wustl.edu 36 5 140663501 140663501 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140663501 140663501 G A SNP SLC25A2 NM_031947 human genbank 54_36p -1 reviewed missense c.116 p.T39M 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors PCDHGA1 56114 genome.wustl.edu 36 5 140692346 140692346 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140692346 140692346 G A SNP PCDHGA1 NM_018912 human genbank 54_36p 1 reviewed silent c.1911 p.A637 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA5 56110 genome.wustl.edu 36 5 140725485 140725485 + Silent SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140725485 140725485 T G SNP PCDHGA5 NM_018918 human genbank 54_36p 1 reviewed silent c.1404 p.G468 0.18 "superfamily_Cadherin-like,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA5 56110 genome.wustl.edu 36 5 140725975 140725975 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 140725975 140725975 C A SNP PCDHGA5 NM_018918 human genbank 54_36p 1 reviewed missense c.1894 p.L632M 0.18 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA5 56110 genome.wustl.edu 36 5 140726341 140726341 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140726341 140726341 T G SNP PCDHGA5 NM_018918 human genbank 54_36p 1 reviewed missense c.2260 p.S754A 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA5 56110 genome.wustl.edu 36 5 140726494 140726494 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140726494 140726494 C T SNP PCDHGA5 NM_018918 human genbank 54_36p 1 reviewed nonsense c.2413 p.R805* 0 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGB4 8641 genome.wustl.edu 36 5 140749075 140749075 + Silent SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140749075 140749075 G T SNP PCDHGB4 NM_003736 human genbank 54_36p 1 reviewed silent c.1440 p.G480 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGB6 56100 genome.wustl.edu 36 5 140769297 140769297 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140769297 140769297 C T SNP PCDHGB6 NM_018926 human genbank 54_36p 1 reviewed silent c.1344 p.N448 0.07 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA12 26025 genome.wustl.edu 36 5 140790893 140790893 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140790893 140790893 A G SNP PCDHGA12 NM_003735 human genbank 54_36p 1 reviewed missense c.383 p.D128G 1 "superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGC4 56098 genome.wustl.edu 36 5 140845157 140845157 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140845157 140845157 A T SNP PCDHGC4 NM_018928 human genbank 54_36p 1 reviewed missense c.233 p.D78V 1 "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGC5 56097 genome.wustl.edu 36 5 140849910 140849910 + Missense_Mutation SNP C A A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140849910 140849910 C A SNP PCDHGC5 NM_018929 human genbank 54_36p 1 reviewed missense c.919 p.P307T 0.54 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGC5 56097 genome.wustl.edu 36 5 140870809 140870809 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140870809 140870809 T G SNP PCDHGC5 NM_018929 human genbank 54_36p 1 reviewed missense c.2720 p.V907G 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors HDAC3 8841 genome.wustl.edu 36 5 140989008 140989008 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 140989008 140989008 C G SNP HDAC3 NM_003883 human genbank 54_36p -1 reviewed missense c.526 p.G176R 1 "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" - no_errors HDAC3 8841 genome.wustl.edu 36 5 140989610 140989610 + Splice_Site SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 140989610 140989610 C A SNP HDAC3 NM_003883 human genbank 54_36p -1 reviewed splice_site c.420+1 e5+1 1 - - - no_errors PCDH1 5097 genome.wustl.edu 36 5 141223560 141223560 + Silent SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 141223560 141223560 C G SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed silent c.2520 p.G840 1 HMMPfam_Protocadherin "superfamily_Cadherin,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_GREAB_2,HMMPfam_Protocadherin" - no_errors PCDH1 5097 genome.wustl.edu 36 5 141223846 141223846 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 141223846 141223846 T A SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed missense c.2234 p.D745V 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin,PatternScan_GREAB_2" - no_errors PCDH1 5097 genome.wustl.edu 36 5 141224972 141224972 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 141224972 141224972 G A SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed missense c.1108 p.R370C 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin,PatternScan_GREAB_2" - no_errors PCDH12 51294 genome.wustl.edu 36 5 141311244 141311244 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 141311244 141311244 G A SNP PCDH12 NM_016580 human genbank 54_36p -1 reviewed silent c.2976 p.S992 1 NULL "superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors SPRY4 81848 genome.wustl.edu 36 5 141674769 141674769 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 141674769 141674769 C A SNP SPRY4 NM_030964 human genbank 54_36p -1 validated missense c.158 p.R53L 1 NULL HMMPfam_Sprouty - no_errors YIPF5 81555 genome.wustl.edu 36 5 143520217 143520225 + In_Frame_Del DEL TTGCTGTCC TTGCTGTCC - novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 TTGCTGTCC TTGCTGTCC TTGCTGTCC - TTGCTGTCC TTGCTGTCC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 143520217 143520225 TTGCTGTCC - DEL YIPF5 NM_001024947 human genbank 54_36p -1 validated in_frame_del c.711_703 p.GQQ235in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Yip1 HMMPfam_Yip1 "(deletion:cds_exon[143520154,143520316])" no_errors SH3RF2 153769 genome.wustl.edu 36 5 145422254 145422254 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 145422254 145422254 G A SNP SH3RF2 NM_152550 human genbank 54_36p 1 validated missense c.1987 p.G663R 0.64 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMPfam_SH3_1" - no_errors PPP2R2B 5521 genome.wustl.edu 36 5 145949851 145949851 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 145949851 145949851 A C SNP PPP2R2B NM_181676 human genbank 54_36p -1 reviewed missense c.1193 p.V398G 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2,PatternScan_WD_REPEATS_1" - no_errors SLC6A3 6531 genome.wustl.edu 36 5 1462901 1462901 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 1462901 1462901 G C SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated missense c.1333 p.R445G 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors FAM105A 54491 genome.wustl.edu 36 5 14662106 14662106 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 14662106 14662106 G A SNP FAM105A NM_019018 human genbank 54_36p 1 validated missense c.877 p.D293N 0.92 NULL NULL - no_errors SPINK5 11005 genome.wustl.edu 36 5 147491087 147491087 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 147491087 147491087 G C SNP SPINK5 NM_006846 human genbank 54_36p 1 reviewed missense c.3037 p.V1013L 1 "superfamily_SSF100895,HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_KAZAL" "superfamily_SSF100895,HMMPfam_Kazal_2,HMMSmart_KAZAL,PatternScan_KAZAL,HMMPfam_Kazal_1" - no_errors SPINK6 404203 genome.wustl.edu 36 5 147573674 147573674 + Silent SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 147573674 147573674 T C SNP SPINK6 NM_205841 human genbank 54_36p 1 validated silent c.90 p.C30 0.42 "superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1" "superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1,PatternScan_KAZAL" - no_errors FBXO38 81545 genome.wustl.edu 36 5 147800984 147800984 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 147800984 147800984 G A SNP FBXO38 NM_205836 human genbank 54_36p 1 validated missense c.3379 p.D1127N 1 NULL "superfamily_F-box domain,HMMPfam_F-box,superfamily_RNI-like" - no_errors ADRB2 154 genome.wustl.edu 36 5 148187638 148187638 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G - G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 148187638 148187638 G - DEL ADRB2 NM_000024 human genbank 54_36p 1 validated frame_shift_del c.1051 p.N352fs 0.17 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[148186588,148187829])" no_errors SH3TC2 79628 genome.wustl.edu 36 5 148372410 148372410 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 148372410 148372410 T A SNP SH3TC2 NM_024577 human genbank 54_36p -1 reviewed missense c.3134 p.E1045V 1 "superfamily_TPR-like,HMMSmart_SM00028" "superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_SH3_1,HMMSmart_SM00326,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors GRPEL2 134266 genome.wustl.edu 36 5 148708089 148708089 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 148708089 148708089 G C SNP GRPEL2 NM_152407 human genbank 54_36p 1 validated missense c.139 p.E47Q 1 HMMPfam_GrpE "HMMPfam_GrpE,superfamily_GrpE_head,PatternScan_GRPE" - no_errors LOC644762 644762 genome.wustl.edu 36 5 149292102 149292102 + RNA SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149292102 149292102 T C SNP LOC644762 XR_017570 human genbank 54_36p -1 model rna NULL NULL 1 - - - no_errors PDE6A 5145 genome.wustl.edu 36 5 149304423 149304423 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149304423 149304423 C A SNP PDE6A NM_000440 human genbank 54_36p -1 reviewed nonsense c.7 p.E3* 1 NULL "superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors TIGD6 81789 genome.wustl.edu 36 5 149354791 149354791 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149354791 149354791 G A SNP TIGD6 NM_030953 human genbank 54_36p -1 validated silent c.1314 p.D438 0.03 NULL "HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind,HMMSmart_CENPB,HMMPfam_DDE" - no_errors SLC6A3 6531 genome.wustl.edu 36 5 1494479 1494479 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 1494479 1494479 A C SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated missense c.413 p.L138R 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors PDGFRB 5159 genome.wustl.edu 36 5 149480685 149480685 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149480685 149480685 G C SNP PDGFRB NM_002609 human genbank 54_36p -1 reviewed missense c.2545 p.R849G 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors CDX1 1044 genome.wustl.edu 36 5 149542564 149542564 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149542564 149542564 C T SNP CDX1 NM_001804 human genbank 54_36p 1 reviewed silent c.486 p.T162 0.18 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "HMMPfam_Caudal_act,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ARSI 340075 genome.wustl.edu 36 5 149657080 149657080 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149657080 149657080 C A SNP ARSI NM_001012301 human genbank 54_36p -1 validated missense c.1600 p.G534W 0.04 NULL "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2" - no_errors TCOF1 6949 genome.wustl.edu 36 5 149751776 149751776 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 149751776 149751776 G A SNP TCOF1 NM_001008656 human genbank 54_36p 1 reviewed missense c.3247 p.G1083R 0 NULL "HMMSmart_SM00667,HMMPfam_Treacle" - no_errors CCDC69 26112 genome.wustl.edu 36 5 150561404 150561404 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 150561404 150561404 G C SNP CCDC69 NM_015621 human genbank 54_36p -1 validated missense c.163 p.R55G 0.73 NULL NULL - no_errors SLC36A2 153201 genome.wustl.edu 36 5 150685145 150685145 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 150685145 150685145 C A SNP SLC36A2 NM_181776 human genbank 54_36p -1 validated missense c.905 p.G302V 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors LPCAT1 79888 genome.wustl.edu 36 5 1516851 1516851 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 1516851 1516851 G A SNP LPCAT1 NM_024830 human genbank 54_36p -1 validated missense c.1520 p.A507V 0 NULL "PatternScan_EF_HAND_1,superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF47473,HMMSmart_EFh" - no_errors LPCAT1 79888 genome.wustl.edu 36 5 1532751 1532751 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 1532751 1532751 G A SNP LPCAT1 NM_024830 human genbank 54_36p -1 validated silent c.801 p.N267 0.7 superfamily_SSF69593 "HMMSmart_EFh,HMMPfam_Acyltransferase,HMMSmart_PlsC,PatternScan_EF_HAND_1,superfamily_SSF47473,superfamily_SSF69593" - no_errors KIF4B 285643 genome.wustl.edu 36 5 154374310 154374310 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 154374310 154374310 G A SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.698 p.R233H 0.97 "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin" "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF4B 285643 genome.wustl.edu 36 5 154374459 154374459 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 154374459 154374459 G T SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.847 p.G283C 0.32 "HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540" "HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540" - no_errors KIF4B 285643 genome.wustl.edu 36 5 154375363 154375363 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 154375363 154375363 C A SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.1751 p.T584K 1 NULL "HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540" - no_errors KIF4B 285643 genome.wustl.edu 36 5 154375750 154375750 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 154375750 154375750 G T SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.2138 p.R713L 1 NULL "HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540" - no_errors ITK 3702 genome.wustl.edu 36 5 156568576 156568576 + Silent SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 156568576 156568576 G A SNP ITK NM_005546 human genbank 54_36p 1 reviewed silent c.237 p.P79 0.93 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" ############################################################################################################################################################################################################################################################### - no_errors ITK 3702 genome.wustl.edu 36 5 156570954 156570954 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 156570954 156570954 G C SNP ITK NM_005546 human genbank 54_36p 1 reviewed missense c.322 p.E108Q 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" ############################################################################################################################################################################################################################################################### - no_errors ITK 3702 genome.wustl.edu 36 5 156582560 156582560 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 156582560 156582560 A C SNP ITK NM_005546 human genbank 54_36p 1 reviewed missense c.605 p.D202A 1 "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" ############################################################################################################################################################################################################################################################### - no_errors CYFIP2 26999 genome.wustl.edu 36 5 156700682 156700682 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 156700682 156700682 C G SNP CYFIP2 ENST00000347377 human ensembl 54_36p 1 known missense c.2612 p.T871S 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors ADAM19 8728 genome.wustl.edu 36 5 156851246 156851246 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 156851246 156851246 G A SNP ADAM19 NM_033274 human genbank 54_36p -1 reviewed missense c.2050 p.P684S 0 NULL ############################################################################################################################################################################################################################################################### - no_errors RNF145 153830 genome.wustl.edu 36 5 158536337 158536337 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 158536337 158536337 T C SNP RNF145 NM_144726 human genbank 54_36p -1 provisional missense c.586 p.I196V 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors FBXL7 23194 genome.wustl.edu 36 5 15981325 15981325 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 15981325 15981325 C T SNP FBXL7 NM_012304 human genbank 54_36p 1 reviewed missense c.454 p.R152W 1 "HMMPfam_F-box,HMMSmart_SM00256,superfamily_RNI-like" "HMMPfam_F-box,HMMSmart_SM00256,superfamily_RNI-like,HMMSmart_SM00367" - no_errors FBXL7 23194 genome.wustl.edu 36 5 15981350 15981350 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 15981350 15981350 C T SNP FBXL7 NM_012304 human genbank 54_36p 1 reviewed missense c.479 p.T160M 1 superfamily_RNI-like "HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00367,superfamily_RNI-like" - no_errors ATP10B 23120 genome.wustl.edu 36 5 159980215 159980215 + Silent SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 159980215 159980215 G A SNP ATP10B NM_025153 human genbank 54_36p -1 validated silent c.2133 p.A711 0 superfamily_HAD-like "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3" - no_errors GABRA6 2559 genome.wustl.edu 36 5 161051638 161051638 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 161051638 161051638 G A SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed missense c.940 p.V314I 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GABRA1 2554 genome.wustl.edu 36 5 161250636 161250636 + Splice_Site SNP T T A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 161250636 161250636 T A SNP GABRA1 NM_000806 human genbank 54_36p 1 reviewed splice_site c.856+2 e7+2 1 - - - no_errors GABRG2 2566 genome.wustl.edu 36 5 161457389 161457389 + Silent SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 161457389 161457389 C A SNP GABRG2 NM_198904 human genbank 54_36p 1 reviewed silent c.495 p.T165 0.96 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GABRG2 2566 genome.wustl.edu 36 5 161463609 161463609 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 161463609 161463609 C A SNP GABRG2 NM_198904 human genbank 54_36p 1 reviewed silent c.768 p.S256 0.99 "HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GABRG2 2566 genome.wustl.edu 36 5 161512879 161512879 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 161512879 161512879 A G SNP GABRG2 NM_198904 human genbank 54_36p 1 reviewed missense c.1355 p.Y452C 1 "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors FAM134B 54463 genome.wustl.edu 36 5 16531974 16531974 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 16531974 16531974 T C SNP FAM134B NM_001034850 human genbank 54_36p -1 validated missense c.793 p.K265E 1 NULL NULL - no_errors LOC728843 728843 genome.wustl.edu 36 5 165388554 165388554 + RNA SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 165388554 165388554 C T SNP LOC728843 XR_015391 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ODZ2 57451 genome.wustl.edu 36 5 167550038 167550038 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 167550038 167550038 G T SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known missense c.2688 p.W896C 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors ODZ2 57451 genome.wustl.edu 36 5 167574777 167574777 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 167574777 167574777 G C SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known missense c.3997 p.E1333Q 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat" ############################################################################################################################################################################################################################################################### - no_errors ODZ2 57451 genome.wustl.edu 36 5 167604048 167604048 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 167604048 167604048 C G SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known missense c.5563 p.R1855G 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors WWC1 23286 genome.wustl.edu 36 5 167827458 167827458 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 167827458 167827458 G A SNP WWC1 NM_015238 human genbank 54_36p 1 provisional silent c.3186 p.Q1062 1 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors RARS 5917 genome.wustl.edu 36 5 167861653 167861653 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 167861653 167861653 G C SNP RARS NM_002887 human genbank 54_36p 1 reviewed missense c.1022 p.R341T 1 "HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase" ############################################################################################################################################################################################################################################################### - no_errors SLIT3 6586 genome.wustl.edu 36 5 168145503 168145503 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 168145503 168145503 A T SNP SLIT3 NM_003062 human genbank 54_36p -1 validated missense c.1138 p.S380T 1 "superfamily_RNI-like,HMMSmart_SM00369" ############################################################################################################################################################################################################################################################### - no_errors DOCK2 1794 genome.wustl.edu 36 5 169162646 169162646 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 169162646 169162646 G A SNP DOCK2 NM_004946 human genbank 54_36p 1 validated missense c.2561 p.R854Q 1 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c" - no_errors DOCK2 1794 genome.wustl.edu 36 5 169368078 169368078 + Splice_Site SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 169368078 169368078 G T SNP DOCK2 NM_004946 human genbank 54_36p 1 validated splice_site c.3073-1 e31-1 1 - - - no_errors LCP2 3937 genome.wustl.edu 36 5 169612768 169612768 + Missense_Mutation SNP G T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 169612768 169612768 G T SNP LCP2 NM_005565 human genbank 54_36p -1 reviewed missense c.1178 p.A393D 0 superfamily_SH2 domain "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors RANBP17 64901 genome.wustl.edu 36 5 170273772 170273772 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 170273772 170273772 G C SNP RANBP17 NM_022897 human genbank 54_36p 1 provisional missense c.784 p.D262H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N" - no_errors RANBP17 64901 genome.wustl.edu 36 5 170284047 170284047 + Silent SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 170284047 170284047 A G SNP RANBP17 NM_022897 human genbank 54_36p 1 provisional silent c.1356 p.E452 1 superfamily_ARM repeat "HMMPfam_IBN_N,superfamily_ARM repeat" - no_errors STK10 6793 genome.wustl.edu 36 5 171516300 171516300 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 171516300 171516300 A G SNP STK10 NM_005990 human genbank 54_36p -1 reviewed missense c.254 p.L85P 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SH3PXD2B 285590 genome.wustl.edu 36 5 171710170 171710170 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 171710170 171710170 C A SNP SH3PXD2B NM_001017995 human genbank 54_36p -1 validated missense c.814 p.A272S 1 "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" "superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors DUSP1 1843 genome.wustl.edu 36 5 172129301 172129301 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 172129301 172129301 C T SNP DUSP1 NM_004417 human genbank 54_36p -1 reviewed missense c.616 p.V206I 1 "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" "superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors ERGIC1 57222 genome.wustl.edu 36 5 172256654 172256654 + Silent SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 172256654 172256654 G A SNP ERGIC1 NM_001031711 human genbank 54_36p 1 reviewed silent c.126 p.S42 1 NULL HMMPfam_DUF1692 - no_errors BNIP1 100128619 genome.wustl.edu 36 5 172504181 172504181 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 172504181 172504181 C T SNP LOC100128619 XM_001720411 human genbank 54_36p -1 model missense c.49 p.D17N 1 NULL NULL - no_errors BOD1 91272 genome.wustl.edu 36 5 172968958 172968958 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 172968958 172968958 C T SNP BOD1 NM_138369 human genbank 54_36p -1 provisional missense c.448 p.E150K 1 NULL NULL - no_errors BOD1 91272 genome.wustl.edu 36 5 172972860 172972860 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 172972860 172972860 G A SNP BOD1 NM_138369 human genbank 54_36p -1 provisional missense c.242 p.A81V 1 NULL NULL - no_errors HMP19 51617 genome.wustl.edu 36 5 173466990 173466990 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 173466990 173466990 G A SNP HMP19 NM_015980 human genbank 54_36p 1 provisional missense c.392 p.R131H 1 HMMPfam_Calcyon HMMPfam_Calcyon - no_errors DRD1 1812 genome.wustl.edu 36 5 174802483 174802483 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 174802483 174802483 G T SNP DRD1 NM_000794 human genbank 54_36p -1 reviewed missense c.226 p.L76M 0.99 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SFXN1 94081 genome.wustl.edu 36 5 174873161 174873161 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 174873161 174873161 T C SNP SFXN1 NM_022754 human genbank 54_36p 1 validated missense c.686 p.V229A 1 HMMPfam_Mtc HMMPfam_Mtc - no_errors HRH2 3274 genome.wustl.edu 36 5 175043082 175043082 + Silent SNP G G C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 175043082 175043082 G C SNP HRH2 NM_022304 human genbank 54_36p 1 reviewed silent c.240 p.L80 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FAM153B 202134 genome.wustl.edu 36 5 175452856 175452856 + Silent SNP A A T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 175452856 175452856 A T SNP FAM153B NM_001079529 human genbank 54_36p 1 validated silent c.312 p.T104 0 NULL NULL - no_errors ARL10 285598 genome.wustl.edu 36 5 175731417 175731417 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 175731417 175731417 G C SNP ARL10 NM_173664 human genbank 54_36p 1 validated missense c.648 p.L216F 1 "superfamily_SSF52540,HMMPfam_Arf" "superfamily_SSF52540,HMMPfam_Arf" - no_errors FAF2 23197 genome.wustl.edu 36 5 175853835 175853835 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 175853835 175853835 G A SNP FAF2 NM_014613 human genbank 54_36p 1 reviewed missense c.614 p.R205K 0.99 HMMSmart_UAS "superfamily_UBA_like,HMMSmart_UAS,HMMPfam_UBX,superfamily_SSF54236" - no_errors HK3 3101 genome.wustl.edu 36 5 176243669 176243669 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 176243669 176243669 G A SNP HK3 NM_002115 human genbank 54_36p -1 reviewed missense c.1930 p.R644W 0.98 "HMMPfam_Hexokinase_1,superfamily_SSF53067" "superfamily_SSF53067,HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" - no_errors HK3 3101 genome.wustl.edu 36 5 176255732 176255732 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 176255732 176255732 C T SNP HK3 NM_002115 human genbank 54_36p -1 reviewed missense c.35 p.G12E 0 NULL "HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES,superfamily_SSF53067" - no_errors UIMC1 51720 genome.wustl.edu 36 5 176270917 176270917 + Splice_Site SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 176270917 176270917 C T SNP UIMC1 NM_016290 human genbank 54_36p -1 provisional splice_site c.1676+1 e10+1 1 - - - no_errors UIMC1 51720 genome.wustl.edu 36 5 176329306 176329306 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 176329306 176329306 C T SNP UIMC1 NM_016290 human genbank 54_36p -1 provisional missense c.365 p.R122Q 1 HMMSmart_SM00726 "HMMPfam_UIM,HMMSmart_SM00726" - no_errors UIMC1 51720 genome.wustl.edu 36 5 176342143 176342143 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 176342143 176342143 G T SNP UIMC1 NM_016290 human genbank 54_36p -1 provisional missense c.80 p.S27Y 0.01 NULL "HMMPfam_UIM,HMMSmart_SM00726" - no_errors NSD1 64324 genome.wustl.edu 36 5 176619656 176619656 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 176619656 176619656 C A SNP NSD1 NM_022455 human genbank 54_36p 1 reviewed missense c.5027 p.A1676D 1 "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249" "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508" - no_errors ZNF354A 6940 genome.wustl.edu 36 5 178072355 178072355 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178072355 178072355 G T SNP ZNF354A NM_005649 human genbank 54_36p -1 validated missense c.1130 p.T377N 1 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF354B 117608 genome.wustl.edu 36 5 178242706 178242706 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178242706 178242706 G A SNP ZNF354B NM_058230 human genbank 54_36p 1 validated missense c.647 p.C216Y 0.76 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFP2 80108 genome.wustl.edu 36 5 178291490 178291490 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178291490 178291490 G C SNP ZFP2 NM_030613 human genbank 54_36p 1 provisional missense c.570 p.E190D 0.59 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF454 285676 genome.wustl.edu 36 5 178324574 178324574 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178324574 178324574 C G SNP ZNF454 NM_182594 human genbank 54_36p 1 provisional missense c.563 p.S188C 0.01 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF354C 30832 genome.wustl.edu 36 5 178438430 178438430 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178438430 178438430 G C SNP ZNF354C NM_014594 human genbank 54_36p 1 provisional missense c.391 p.E131Q 0.98 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RUFY1 80230 genome.wustl.edu 36 5 178949231 178949231 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178949231 178949231 G C SNP RUFY1 NM_025158 human genbank 54_36p 1 validated missense c.1105 p.E369Q 0.99 NULL "HMMPfam_RUN,HMMSmart_SM00593,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors RUFY1 80230 genome.wustl.edu 36 5 178953205 178953205 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178953205 178953205 C G SNP RUFY1 NM_025158 human genbank 54_36p 1 validated missense c.1366 p.L456V 1 NULL "HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_RUN,HMMSmart_SM00593,superfamily_FYVE/PHD zinc finger" - no_errors RUFY1 80230 genome.wustl.edu 36 5 178969029 178969029 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 178969029 178969029 G C SNP RUFY1 NM_025158 human genbank 54_36p 1 validated missense c.2030 p.S677T 1 "HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger" "HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_RUN,HMMSmart_SM00593,superfamily_FYVE/PHD zinc finger" - no_errors MAML1 9794 genome.wustl.edu 36 5 179125186 179125186 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 179125186 179125186 G A SNP MAML1 NM_014757 human genbank 54_36p 1 reviewed missense c.569 p.R190H 1 NULL HMMPfam_MamL-1 - no_errors RNF130 55819 genome.wustl.edu 36 5 179337838 179337838 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 179337838 179337838 C G SNP RNF130 NM_018434 human genbank 54_36p -1 reviewed missense c.819 p.Q273H 1 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" "PatternScan_ZF_RING_1,superfamily_SSF52025,HMMPfam_PA,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors RASGEF1C 255426 genome.wustl.edu 36 5 179478982 179478982 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 179478982 179478982 C T SNP RASGEF1C NM_175062 human genbank 54_36p -1 validated missense c.877 p.G293S 1 "superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF" "superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors MGAT1 4245 genome.wustl.edu 36 5 180152019 180152019 + Missense_Mutation SNP G A A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 180152019 180152019 G A SNP MGAT1 NM_002406 human genbank 54_36p -1 reviewed missense c.559 p.R187C 0.59 "HMMPfam_GNT-I,superfamily_SSF53448" "HMMPfam_GNT-I,superfamily_SSF53448" - no_errors OR2V2 285659 genome.wustl.edu 36 5 180514948 180514948 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 180514948 180514948 C A SNP OR2V2 NM_206880 human genbank 54_36p 1 provisional missense c.400 p.P134T 0.97 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CDH18 1016 genome.wustl.edu 36 5 19607578 19607578 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 19607578 19607578 C A SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed missense c.1120 p.V374F 1 "superfamily_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH18 1016 genome.wustl.edu 36 5 19874754 19874754 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 19874754 19874754 C T SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed silent c.99 p.V33 1 NULL "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors PLEKHG4B 153478 genome.wustl.edu 36 5 209279 209279 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 209279 209279 G T SNP PLEKHG4B NM_052909 human genbank 54_36p 1 validated missense c.1234 p.V412F 0.83 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMSmart_SM00233" - no_errors CDH12 1010 genome.wustl.edu 36 5 21788078 21788078 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 21788078 21788078 A T SNP CDH12 NM_004061 human genbank 54_36p -1 reviewed missense c.1910 p.L637Q 1 NULL "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors LOC643300 643300 genome.wustl.edu 36 5 21918591 21918591 + RNA SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 21918591 21918591 C A SNP LOC643300 XR_016534 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene CDH12 1010 genome.wustl.edu 36 5 22011192 22011192 + Silent SNP G G A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 22011192 22011192 G A SNP CDH12 NM_004061 human genbank 54_36p -1 reviewed silent c.291 p.G97 0.99 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors PRDM9 56979 genome.wustl.edu 36 5 23545367 23545367 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 23545367 23545367 A G SNP PRDM9 NM_020227 human genbank 54_36p 1 provisional missense c.101 p.Y34C 0.87 "superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_KRAB" "superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_KRAB,HMMPfam_SSXRD,superfamily_SSF82199,HMMSmart_SET,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2" - no_errors PRDM9 56979 genome.wustl.edu 36 5 23562913 23562913 + Silent SNP T T C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 23562913 23562913 T C SNP PRDM9 NM_020227 human genbank 54_36p 1 provisional silent c.1959 p.T653 0.01 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMSmart_SET,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_SSXRD,superfamily_SSF57667,superfamily_SSF82199" - no_errors CDH10 1008 genome.wustl.edu 36 5 24523814 24523814 + Silent SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 24523814 24523814 C T SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed silent c.2082 p.T694 0.63 HMMPfam_Cadherin_C "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH10 1008 genome.wustl.edu 36 5 24547225 24547225 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 24547225 24547225 C A SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed missense c.970 p.D324Y 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH10 1008 genome.wustl.edu 36 5 24571018 24571018 + Silent SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 24571018 24571018 C T SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed silent c.774 p.T258 0.98 "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH10 1008 genome.wustl.edu 36 5 24573255 24573255 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 24573255 24573255 A G SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed missense c.517 p.S173P 1 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH10 1008 genome.wustl.edu 36 5 24629198 24629198 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 24629198 24629198 T A SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed missense c.159 p.K53N 1 superfamily_Cadherin "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH9 1007 genome.wustl.edu 36 5 26951726 26951726 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 26951726 26951726 C A SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed missense c.292 p.G98C 1 "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin" "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH6 1004 genome.wustl.edu 36 5 31303462 31303462 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 31303462 31303462 G C SNP CDH6 NM_004932 human genbank 54_36p 1 reviewed missense c.125 p.G42A 1 NULL "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH6 1004 genome.wustl.edu 36 5 31359020 31359020 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 31359020 31359020 G A SNP CDH6 NM_004932 human genbank 54_36p 1 reviewed missense c.2221 p.E741K 1 HMMPfam_Cadherin_C "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors RNASEN 29102 genome.wustl.edu 36 5 31485177 31485177 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 31485177 31485177 C G SNP RNASEN NM_013235 human genbank 54_36p -1 validated missense c.2789 p.R930T 1 superfamily_RNase III catalytic domain-like (Pfam 00636) "superfamily_RNase III catalytic domain-like (Pfam 00636),HMMSmart_SM00535,PatternScan_RNASE_3_1,HMMPfam_Ribonuclease_3,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" - no_errors C5orf22 55322 genome.wustl.edu 36 5 31574387 31574387 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 31574387 31574387 C G SNP C5orf22 NM_018356 human genbank 54_36p 1 validated missense c.641 p.T214S 0.08 NULL NULL - no_errors PDZD2 23037 genome.wustl.edu 36 5 32084538 32084538 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 32084538 32084538 T G SNP PDZD2 NM_178140 human genbank 54_36p 1 reviewed missense c.1656 p.S552R 0 NULL "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ,PatternScan_PROTEIN_KINASE_ATP" - no_errors GOLPH3 64083 genome.wustl.edu 36 5 32162087 32162087 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 32162087 32162087 C T SNP GOLPH3 NM_022130 human genbank 54_36p -1 reviewed silent c.885 p.A295 0.02 HMMPfam_GPP34 HMMPfam_GPP34 - no_errors MTMR12 54545 genome.wustl.edu 36 5 32277959 32277959 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 32277959 32277959 C G SNP MTMR12 NM_001040446 human genbank 54_36p -1 reviewed missense c.1132 p.E378Q 0.9 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related" - no_errors LOC728553 728553 genome.wustl.edu 36 5 33198391 33198391 + RNA SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 33198391 33198391 C A SNP LOC728553 XR_015414 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ADAMTS12 81792 genome.wustl.edu 36 5 33651729 33651729 + Silent SNP C C G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 33651729 33651729 C G SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed silent c.2349 p.L783 1 HMMPfam_ADAM_spacer1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors AGXT2 64902 genome.wustl.edu 36 5 35039672 35039672 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35039672 35039672 A G SNP AGXT2 NM_031900 human genbank 54_36p -1 reviewed missense c.1390 p.C464R 1 superfamily_PyrdxlP-dep_Trfase_major "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3" - no_errors AGXT2 64902 genome.wustl.edu 36 5 35071120 35071120 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35071120 35071120 C G SNP AGXT2 NM_031900 human genbank 54_36p -1 reviewed missense c.545 p.R182T 1 "HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major" "HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3,superfamily_PyrdxlP-dep_Trfase_major" - no_errors AGXT2 64902 genome.wustl.edu 36 5 35083713 35083713 + Silent SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35083713 35083713 C G SNP AGXT2 NM_031900 human genbank 54_36p -1 reviewed silent c.42 p.L14 0 NULL "HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3,superfamily_PyrdxlP-dep_Trfase_major" - no_errors PRLR 5618 genome.wustl.edu 36 5 35120353 35120353 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35120353 35120353 G T SNP PRLR NM_000949 human genbank 54_36p -1 validated missense c.349 p.L117I 0.02 superfamily_Fibronectin type III "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F1" - no_errors SPEF2 79925 genome.wustl.edu 36 5 35809758 35809758 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35809758 35809758 C T SNP SPEF2 NM_024867 human genbank 54_36p 1 validated missense c.3956 p.S1319L 0.02 NULL "HMMPfam_DUF1042,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_hATC" - no_errors IL7R 3575 genome.wustl.edu 36 5 35912193 35912193 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35912193 35912193 A G SNP IL7R NM_002185 human genbank 54_36p 1 reviewed missense c.1228 p.T410A 0 NULL "superfamily_Fibronectin type III,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1" - no_errors UGT3A1 133688 genome.wustl.edu 36 5 35990268 35990268 + Silent SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 35990268 35990268 C A SNP UGT3A1 NM_152404 human genbank 54_36p -1 provisional silent c.1365 p.L455 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT3A2 167127 genome.wustl.edu 36 5 36071727 36071727 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 36071727 36071727 C T SNP UGT3A2 NM_174914 human genbank 54_36p -1 provisional missense c.1402 p.A468T 0.76 HMMPfam_UDPGT "superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors SKP2 6502 genome.wustl.edu 36 5 36216135 36216135 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 36216135 36216135 G A SNP SKP2 ENST00000308927 human ensembl 54_36p 1 known missense c.1147 p.G383R 0.01 NULL "HMMPfam_F-box,superfamily_F-box domain,HMMSmart_SM00256,superfamily_RNI-like,HMMSmart_SM00367" - no_errors C5orf33 133686 genome.wustl.edu 36 5 36253704 36253704 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 36253704 36253704 C T SNP C5orf33 NM_001085411 human genbank 54_36p -1 validated silent c.684 p.G228 1 superfamily_NAD kinase (Pfam 01513) "superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase" - no_errors IRX1 79192 genome.wustl.edu 36 5 3652809 3652809 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 3652809 3652809 C T SNP IRX1 NM_024337 human genbank 54_36p 1 validated silent c.747 p.A249 0.69 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_IRO" - no_errors NIPBL 25836 genome.wustl.edu 36 5 37056376 37056376 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 37056376 37056376 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.5069 p.K1690R 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors NIPBL 25836 genome.wustl.edu 36 5 37062130 37062130 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 37062130 37062130 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.5752 p.T1918A 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors LOC391777 391777 genome.wustl.edu 36 5 37121120 37121120 + RNA SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 37121120 37121120 T C SNP LOC391777 XR_016978 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene C5orf42 65250 genome.wustl.edu 36 5 37205347 37205347 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 37205347 37205347 G T SNP C5orf42 NM_023073 human genbank 54_36p -1 predicted missense c.3176 p.S1059Y 0.01 NULL NULL - no_errors LOC728707 728707 genome.wustl.edu 36 5 37542684 37542684 + RNA SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 37542684 37542684 G A SNP LOC728707 XR_015588 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene EGFLAM 133584 genome.wustl.edu 36 5 38474280 38474280 + Silent SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 38474280 38474280 C T SNP EGFLAM NM_152403 human genbank 54_36p 1 validated silent c.2430 p.C810 1 "HMMSmart_EGF,HMMPfam_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_2" "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2" - no_errors FYB 2533 genome.wustl.edu 36 5 39170133 39170133 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 39170133 39170133 G A SNP FYB NM_001465 human genbank 54_36p -1 validated missense c.1751 p.P584L 0 NULL "PatternScan_XYLOSE_ISOMERASE_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors LOC285634 285634 genome.wustl.edu 36 5 39754878 39754878 + RNA SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 39754878 39754878 G A SNP LOC285634 XR_017261 human genbank 54_36p -1 model rna NULL NULL 0.83 - - - pseudogene LOC285634 285634 genome.wustl.edu 36 5 39754959 39754959 + RNA SNP G G T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 39754959 39754959 G T SNP LOC285634 XR_017261 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RPL37 6167 genome.wustl.edu 36 5 40871055 40871055 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 40871055 40871055 C T SNP RPL37 ENST00000315577 human ensembl 54_36p -1 known silent c.15 p.P5 0.05 NULL "superfamily_Ribosomal_zn-bd,HMMPfam_Ribosomal_L37e" - no_start_codon C7 730 genome.wustl.edu 36 5 41012691 41012691 + Silent SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 41012691 41012691 C T SNP C7 NM_000587 human genbank 54_36p 1 reviewed silent c.2157 p.Y719 0.99 "HMMSmart_FIMAC,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors HEATR7B2 133558 genome.wustl.edu 36 5 41068913 41068913 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 41068913 41068913 A G SNP HEATR7B2 NM_173489 human genbank 54_36p -1 validated missense c.2348 p.I783T 0.79 superfamily_ARM repeat superfamily_ARM repeat - no_errors C6 729 genome.wustl.edu 36 5 41185273 41185273 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 41185273 41185273 T C SNP C6 NM_000065 human genbank 54_36p -1 reviewed missense c.2450 p.K817R 1 "HMMSmart_FIMAC,HMMSmart_KAZAL,HMMPfam_Kazal_2" ############################################################################################################################################################################################################################################################### - no_errors C6 729 genome.wustl.edu 36 5 41195071 41195071 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 41195071 41195071 T G SNP C6 NM_000065 human genbank 54_36p -1 reviewed missense c.1726 p.T576P 0 "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1" ############################################################################################################################################################################################################################################################### - no_errors PLCXD3 345557 genome.wustl.edu 36 5 41349496 41349496 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 41349496 41349496 C A SNP PLCXD3 NM_001005473 human genbank 54_36p -1 validated nonsense c.946 p.E316* 1 NULL superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors MGC42105 167359 genome.wustl.edu 36 5 43281815 43281815 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 43281815 43281815 G T SNP MGC42105 NM_153361 human genbank 54_36p 1 provisional missense c.181 p.V61L 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MGC42105 167359 genome.wustl.edu 36 5 43316288 43316288 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 43316288 43316288 C T SNP MGC42105 NM_153361 human genbank 54_36p 1 provisional silent c.1011 p.F337 1 superfamily_Protein kinase-like (PK-like) "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors NNT 23530 genome.wustl.edu 36 5 43691842 43691842 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 43691842 43691842 G A SNP NNT NM_012343 human genbank 54_36p 1 reviewed missense c.2203 p.A735T 1 HMMPfam_PNTB "superfamily_SSF52283,PatternScan_ALADH_PNT_1,HMMPfam_AlaDh_PNT_N,superfamily_NAD(P)-bd,HMMPfam_AlaDh_PNT_C,PatternScan_ALADH_PNT_2,HMMPfam_PNTB,superfamily_SSF52467" - no_errors ADAMTS16 170690 genome.wustl.edu 36 5 5239163 5239163 + Splice_Site SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 5239163 5239163 A G SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed splice_site c.764-2 e5-2 1 - - - no_errors ADAMTS16 170690 genome.wustl.edu 36 5 5239221 5239221 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 5239221 5239221 T C SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed missense c.820 p.C274R 0 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors ARL15 54622 genome.wustl.edu 36 5 53503386 53503386 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 53503386 53503386 C A SNP ARL15 NM_019087 human genbank 54_36p -1 validated missense c.178 p.V60F 0.79 "HMMPfam_Arf,superfamily_SSF52540" "HMMPfam_Arf,superfamily_SSF52540" - no_errors GZMA 3001 genome.wustl.edu 36 5 54439842 54439842 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 54439842 54439842 G A SNP GZMA NM_006144 human genbank 54_36p 1 reviewed missense c.490 p.D164N 0.02 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors DHX29 54505 genome.wustl.edu 36 5 54616938 54616938 + Silent SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 54616938 54616938 A G SNP DHX29 NM_019030 human genbank 54_36p -1 validated silent c.1296 p.D432 1 NULL "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors RNF138P1 379013 genome.wustl.edu 36 5 54862119 54862119 + RNA SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 54862119 54862119 G A SNP RNF138P1 NR_001575 human genbank 54_36p -1 provisional rna NULL NULL 1 - - - pseudogene IL6ST 3572 genome.wustl.edu 36 5 55294991 55294991 + Silent SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 55294991 55294991 T A SNP IL6ST NM_002184 human genbank 54_36p -1 reviewed silent c.759 p.I253 0 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "HMMPfam_Lep_receptor_Ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors ACTBL2 345651 genome.wustl.edu 36 5 56813410 56813410 + Silent SNP G G C novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 56813410 56813410 G C SNP ACTBL2 NM_001017992 human genbank 54_36p -1 validated silent c.882 p.L294 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors RAB3C 115827 genome.wustl.edu 36 5 58057676 58057676 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 58057676 58057676 G A SNP RAB3C NM_138453 human genbank 54_36p 1 provisional missense c.343 p.E115K 1 "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" - no_errors HTR1A 3350 genome.wustl.edu 36 5 63292623 63292623 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 63292623 63292623 C T SNP HTR1A NM_000524 human genbank 54_36p -1 validated missense c.680 p.R227H 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SREK1IP1 285672 genome.wustl.edu 36 5 64072705 64072705 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 64072705 64072705 G C SNP SFRS12IP1 NM_173829 human genbank 54_36p -1 validated missense c.140 p.T47R 1 NULL HMMSmart_ZnF_C2HC - no_errors ADAMTS6 11174 genome.wustl.edu 36 5 64546443 64546443 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 64546443 64546443 C G SNP ADAMTS6 NM_197941 human genbank 54_36p -1 reviewed missense c.2509 p.D837H 1 superfamily_TSP-1 type 1 repeat "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors TRIM23 373 genome.wustl.edu 36 5 64928098 64928098 + Silent SNP A A G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 64928098 64928098 A G SNP TRIM23 NM_001656 human genbank 54_36p -1 reviewed silent c.1326 p.T442 1 "HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" ############################################################################################################################################################################################################################################################### - no_errors TRIM23 373 genome.wustl.edu 36 5 64945746 64945746 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 64945746 64945746 G A SNP TRIM23 NM_001656 human genbank 54_36p -1 reviewed nonsense c.301 p.R101* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors C5orf44 80006 genome.wustl.edu 36 5 64993649 64993649 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 64993649 64993649 A G SNP C5orf44 NM_001093755 human genbank 54_36p 1 validated missense c.914 p.D305G 1 NULL HMMPfam_DUF974 - no_errors ERBB2IP 55914 genome.wustl.edu 36 5 65385839 65385839 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 65385839 65385839 C G SNP ERBB2IP NM_018695 human genbank 54_36p 1 reviewed missense c.2937 p.I979M 0.98 NULL "superfamily_SSF52058,HMMPfam_LRR_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors CD180 4064 genome.wustl.edu 36 5 66516124 66516124 + Silent SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 66516124 66516124 A G SNP CD180 NM_005582 human genbank 54_36p -1 validated silent c.303 p.H101 0 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - no_errors NSUN2 54888 genome.wustl.edu 36 5 6653248 6653248 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 6653248 6653248 G A SNP NSUN2 NM_017755 human genbank 54_36p -1 validated missense c.2095 p.L699F 1 NULL "PatternScan_NOL1_NOP2_SUN,superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu" - no_errors PMCHL2 5370 genome.wustl.edu 36 5 70707956 70707956 + RNA SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 70707956 70707956 C T SNP PMCHL2 NR_003922 human genbank 54_36p 1 validated rna NULL NULL 0.96 - - - pseudogene MAP1B 4131 genome.wustl.edu 36 5 71525796 71525796 + Silent SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 71525796 71525796 C T SNP MAP1B NM_005909 human genbank 54_36p 1 validated silent c.858 p.G286 0.97 NULL "HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN" - no_errors TMEM174 134288 genome.wustl.edu 36 5 72504933 72504933 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 72504933 72504933 C A SNP TMEM174 NM_153217 human genbank 54_36p 1 validated missense c.107 p.A36E 1 NULL NULL - no_errors RGNEF 64283 genome.wustl.edu 36 5 73105497 73105497 + Silent SNP C T T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 73105497 73105497 C T SNP RGNEF NM_001080479 human genbank 54_36p 1 provisional silent c.537 p.S179 0.99 NULL "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,superfamily_PH domain-like,HMMSmart_SM00233" - no_errors RGNEF 64283 genome.wustl.edu 36 5 73178047 73178047 + Silent SNP A G G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 73178047 73178047 A G SNP RGNEF NM_001080479 human genbank 54_36p 1 provisional silent c.1626 p.L542 0.98 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain" - no_errors ENC1 8507 genome.wustl.edu 36 5 73967028 73967028 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 73967028 73967028 C G SNP ENC1 NM_003633 human genbank 54_36p -1 validated missense c.1039 p.G347R 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors HEXB 3074 genome.wustl.edu 36 5 74050387 74050387 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 74050387 74050387 G C SNP HEXB NM_000521 human genbank 54_36p 1 reviewed missense c.1252 p.G418R 0.98 "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" "superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" - no_errors GCNT4 51301 genome.wustl.edu 36 5 74360756 74360756 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 74360756 74360756 G C SNP GCNT4 NM_016591 human genbank 54_36p -1 validated missense c.863 p.S288C 1 HMMPfam_Branch HMMPfam_Branch - no_errors HMGCR 3156 genome.wustl.edu 36 5 74682418 74682418 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 74682418 74682418 C G SNP HMGCR NM_000859 human genbank 54_36p 1 reviewed missense c.829 p.P277A 1 NULL ############################################################################################################################################################################################################################################################### - no_errors F2RL2 2151 genome.wustl.edu 36 5 75954796 75954796 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 75954796 75954796 A C SNP F2RL2 NM_004101 human genbank 54_36p -1 reviewed missense c.16 p.F6V 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors IQGAP2 10788 genome.wustl.edu 36 5 75968737 75968737 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 75968737 75968737 C A SNP IQGAP2 NM_006633 human genbank 54_36p 1 validated missense c.1903 p.L635I 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ADCY2 108 genome.wustl.edu 36 5 7765987 7765987 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 7765987 7765987 C G SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.1597 p.H533D 1 HMMPfam_DUF1053 "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors ZDHHC11B 653082 genome.wustl.edu 36 5 783566 783566 + Silent SNP C C G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 783566 783566 C G SNP ZDHHC11B XM_926053 human genbank 54_36p -1 model silent c.1041 p.P347 0 NULL HMMPfam_zf-DHHC - no_errors BHMT 635 genome.wustl.edu 36 5 78459541 78459541 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 78459541 78459541 C G SNP BHMT NM_001713 human genbank 54_36p 1 reviewed missense c.1016 p.T339S 1 superfamily_S_methyl_trans "superfamily_S_methyl_trans,HMMPfam_S-methyl_trans" - no_errors ADCY2 108 genome.wustl.edu 36 5 7855364 7855364 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 7855364 7855364 G A SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.2662 p.V888I 1 "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase" "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors PAPD4 167153 genome.wustl.edu 36 5 79013584 79013584 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 79013584 79013584 G T SNP PAPD4 NM_173797 human genbank 54_36p 1 validated missense c.1324 p.A442S 1 superfamily_PAP/OAS1 substrate-binding domain "superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc" - no_errors CMYA5 202333 genome.wustl.edu 36 5 79064909 79064909 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 79064909 79064909 T G SNP CMYA5 NM_153610 human genbank 54_36p 1 validated missense c.4565 p.V1522G 0 NULL "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_SPRY" - no_errors CMYA5 202333 genome.wustl.edu 36 5 79068119 79068119 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 79068119 79068119 C T SNP CMYA5 NM_153610 human genbank 54_36p 1 validated missense c.7775 p.T2592I 0 NULL "HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors FASTKD3 79072 genome.wustl.edu 36 5 7920093 7920093 + Silent SNP A A G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 7920093 7920093 A G SNP FASTKD3 NM_024091 human genbank 54_36p -1 validated silent c.1104 p.P368 0.65 NULL "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors MTRR 4552 genome.wustl.edu 36 5 7938939 7938940 + Nonsense_Mutation DNP GA GA AT novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 GA GA GA AT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 7938939 7938940 GA AT DNP MTRR NM_024010 human genbank 54_36p 1 reviewed nonsense c.1110_1111 p.KI371* 0.278:0.003 "superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1" "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" - no_errors VCAN 1462 genome.wustl.edu 36 5 82869973 82869973 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 82869973 82869973 T A SNP VCAN NM_004385 human genbank 54_36p 1 validated missense c.5395 p.L1799I 0 NULL ############################################################################################################################################################################################################################################################### - no_errors VCAN 1462 genome.wustl.edu 36 5 82871305 82871305 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 82871305 82871305 A G SNP VCAN NM_004385 human genbank 54_36p 1 validated missense c.6727 p.T2243A 0.19 NULL ############################################################################################################################################################################################################################################################### - no_errors VCAN 1462 genome.wustl.edu 36 5 82872381 82872381 + Silent SNP A A C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 82872381 82872381 A C SNP VCAN NM_004385 human genbank 54_36p 1 validated silent c.7803 p.V2601 0 NULL ############################################################################################################################################################################################################################################################### - no_errors LOC645181 645181 genome.wustl.edu 36 5 84881560 84881560 + RNA SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 84881560 84881560 C T SNP LOC645181 XR_017382 human genbank 54_36p 1 model rna NULL NULL 0.98 - - - pseudogene CCNH 902 genome.wustl.edu 36 5 86726040 86726040 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 86726040 86726040 G C SNP CCNH NM_001239 human genbank 54_36p -1 reviewed missense c.951 p.D317E 0.99 NULL "PatternScan_CYCLINS,superfamily_Cyclin_like,HMMSmart_CYCLIN,HMMPfam_Cyclin_N" - no_errors GPR98 84059 genome.wustl.edu 36 5 89960995 89960995 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 89960995 89960995 C G SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.1722 p.I574M 1 NULL "HMMSmart_SM00237,HMMPfam_Calx-beta,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP,PatternScan_A_DEAMINASE,PatternScan_LIPOYL,HMMPfam_GPS" - no_errors GPR98 84059 genome.wustl.edu 36 5 89961060 89961060 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 89961060 89961060 T A SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed nonsense c.1787 p.L596* 1 NULL "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 genome.wustl.edu 36 5 89974258 89974258 + Silent SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 89974258 89974258 C T SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed silent c.2290 p.L764 0.95 HMMSmart_SM00237 "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 genome.wustl.edu 36 5 90024328 90024328 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 90024328 90024328 A G SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.7102 p.S2368G 1 NULL "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 genome.wustl.edu 36 5 90025600 90025600 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 90025600 90025600 G A SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.7271 p.R2424K 0.81 NULL "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 genome.wustl.edu 36 5 90060294 90060294 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 90060294 90060294 G C SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.10214 p.R3405P 0.15 HMMPfam_EPTP "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 genome.wustl.edu 36 5 90085245 90085245 + Silent SNP C C A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 90085245 90085245 C A SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed silent c.11220 p.T3740 0 NULL "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 genome.wustl.edu 36 5 90088717 90088717 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 90088717 90088717 G C SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.11923 p.E3975Q 0.98 HMMSmart_SM00237 "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors ENSG00000213731 0 genome.wustl.edu 36 5 90808219 90808220 + Splice_Site INS - - G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5 90808219 90808220 - G INS ENSG00000213731 ENST00000395972 human ensembl 54_36p 1 novel splice_site_ins c.NULL NULL 0.983:0.990 - - - no_coding_region:pseudogene NR2F1 7025 genome.wustl.edu 36 5 92955171 92955171 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 92955171 92955171 T G SNP NR2F1 NM_005654 human genbank 54_36p 1 provisional missense c.1139 p.V380G 1 "superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMPfam_zf-C4_C,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors TTC37 9652 genome.wustl.edu 36 5 94882234 94882234 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 94882234 94882234 C G SNP TTC37 NM_014639 human genbank 54_36p -1 provisional missense c.2056 p.D686H 0.95 NULL "HMMSmart_TPR,superfamily_SSF48452,HMMPfam_TPR_1,superfamily_Prenyl_trans,HMMPfam_Sel1,HMMSmart_SEL1" - no_errors TTC37 9652 genome.wustl.edu 36 5 94882252 94882252 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 94882252 94882252 C A SNP TTC37 NM_014639 human genbank 54_36p -1 provisional missense c.2038 p.A680S 1 NULL "HMMPfam_TPR_1,HMMPfam_Sel1,HMMSmart_SEL1,HMMSmart_TPR,superfamily_Prenyl_trans,superfamily_SSF48452" - no_errors TTC37 9652 genome.wustl.edu 36 5 94883637 94883637 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 94883637 94883637 C A SNP TTC37 NM_014639 human genbank 54_36p -1 provisional nonsense c.1888 p.E630* 0.97 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_Prenyl_trans" "HMMPfam_TPR_1,HMMPfam_Sel1,HMMSmart_SEL1,HMMSmart_TPR,superfamily_Prenyl_trans,superfamily_SSF48452" - no_errors ERAP1 51752 genome.wustl.edu 36 5 96147252 96147252 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 96147252 96147252 C T SNP ERAP1 NM_016442 human genbank 54_36p -1 validated missense c.1939 p.V647I 1 NULL "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE" - no_errors LIX1 167410 genome.wustl.edu 36 5 96458274 96458274 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5 96458274 96458274 C T SNP LIX1 NM_153234 human genbank 54_36p -1 validated missense c.557 p.R186Q 1 NULL PatternScan_IF - no_errors TAS2R1 50834 genome.wustl.edu 36 5 9682459 9682459 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 9682459 9682459 G C SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed missense c.686 p.S229C 0.01 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors TAS2R1 50834 genome.wustl.edu 36 5 9682483 9682483 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 9682483 9682483 C A SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed missense c.662 p.G221V 0 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors CHD1 1105 genome.wustl.edu 36 5 98264662 98264662 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 98264662 98264662 C A SNP CHD1 NM_001270 human genbank 54_36p -1 reviewed missense c.612 p.K204N 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Homeodomain-like" - no_errors LOC100128140 100128140 genome.wustl.edu 36 17 507347 507347 + RNA SNP T T C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 507347 507347 T C SNP LOC100128140 XR_037026 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene SERPINE3 647174 genome.wustl.edu 36 13 50819248 50819248 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 50819248 50819248 T A SNP SERPINE3 NM_001101320 human genbank 54_36p 1 validated missense c.577 p.S193T 1 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors ENSG00000210272 0 genome.wustl.edu 36 16 51926021 51926021 + RNA SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 51926021 51926021 A G SNP ENSG00000210272 ENST00000387537 human ensembl 54_36p 1 novel rna NULL NULL 0 - - - pseudogene LOC100130990 100130990 genome.wustl.edu 36 5 54190146 54190146 + RNA SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 54190146 54190146 T G SNP LOC100130990 XR_042331 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene OR2AP1 121129 genome.wustl.edu 36 12 54255095 54255095 + Silent SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54255095 54255095 G A SNP OR2AP1 ENST00000321688 human ensembl 54_36p 1 known silent c.630 p.V210 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4A13P 81330 genome.wustl.edu 36 11 54991325 54991325 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 54991325 54991325 G T SNP OR4A13P ENST00000314689 human ensembl 54_36p 1 known missense c.218 p.G73V 0.01 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ENSG00000181943 0 genome.wustl.edu 36 11 55015968 55015968 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55015968 55015968 G T SNP ENSG00000181943 ENST00000314657 human ensembl 54_36p 1 known missense c.674 p.C225F 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors MT1IP 644314 genome.wustl.edu 36 16 55269031 55269031 + RNA SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 55269031 55269031 T C SNP MT1IP NR_003669 human genbank 54_36p 1 provisional rna NULL NULL 0 - - - pseudogene LOC100131971 100131971 genome.wustl.edu 36 18 55579947 55579947 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 55579947 55579947 G A SNP LOC100131971 XM_001722472 human genbank 54_36p 1 model missense c.178 p.D60N 1 HMMPfam_Ribosomal_S26e HMMPfam_Ribosomal_S26e - pseudogene ENSG00000169164 0 genome.wustl.edu 36 X 55697965 55697965 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 55697965 55697965 T A SNP ENSG00000169164 ENST00000347911 human ensembl 54_36p -1 known missense c.122 p.E41V 0 HMMPfam_GAGE HMMPfam_GAGE - no_start_codon:no_stop_codon OR5AK3P 81228 genome.wustl.edu 36 11 56495401 56495401 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56495401 56495401 T C SNP OR5AK3P ENST00000326876 human ensembl 54_36p 1 known missense c.301 p.F101L 0.09 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5AK3P 81228 genome.wustl.edu 36 11 56495547 56495547 + Silent SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56495547 56495547 T C SNP OR5AK3P ENST00000326876 human ensembl 54_36p 1 known silent c.447 p.Y149 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5AK3P 81228 genome.wustl.edu 36 11 56495874 56495874 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56495874 56495874 G A SNP OR5AK3P ENST00000326876 human ensembl 54_36p 1 known missense c.774 p.M258I 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC100133234 100133234 genome.wustl.edu 36 8 56525236 56525236 + RNA SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 56525236 56525236 G A SNP LOC100133234 XR_038021 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene MIR298 100126296 genome.wustl.edu 36 20 56826717 56826717 + RNA SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 56826717 56826717 C G SNP MIRN298 ENST00000401212 human ensembl 54_36p -1 known rna NULL NULL 0 - - - no_errors SIGLEC14 100049587 genome.wustl.edu 36 19 56841005 56841005 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 56841005 56841005 G A SNP SIGLEC14 NM_001098612 human genbank 54_36p -1 validated missense c.542 p.T181M 0 "superfamily_SSF48726,HMMPfam_ig" "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,PatternScan_IG_MHC" - no_errors LOC644456 644456 genome.wustl.edu 36 2 58542553 58542553 + RNA SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 58542553 58542553 G A SNP LOC644456 XR_039438 human genbank 54_36p -1 model rna NULL NULL 0.89 - - - pseudogene ENSG00000210211 0 genome.wustl.edu 36 9 5880215 5880215 + RNA SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 5880215 5880215 C G SNP ENSG00000210211 ENST00000387476 human ensembl 54_36p 1 novel rna NULL NULL 0 - - - pseudogene MIR520D 574482 genome.wustl.edu 36 19 58915240 58915240 + RNA SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58915240 58915240 G A SNP MIRN520D ENST00000385002 human ensembl 54_36p 1 known rna NULL NULL 0 - - - no_errors MIR518A2 574491 genome.wustl.edu 36 19 58934421 58934421 + RNA SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58934421 58934421 G T SNP MIRN518A2 ENST00000384966 human ensembl 54_36p 1 known rna NULL NULL 0 - - - no_errors MIR517C 574492 genome.wustl.edu 36 19 58936414 58936414 + RNA SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58936414 58936414 C G SNP MIRN517C ENST00000385103 human ensembl 54_36p 1 known rna NULL NULL 0 - - - no_errors MIR1283-2 100302205 genome.wustl.edu 36 19 58953336 58953336 + RNA SNP G T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 58953336 58953336 G T SNP MIRN1283-2 ENST00000408621 human ensembl 54_36p 1 known rna NULL NULL 0 - - - no_errors ENSG00000204989 0 genome.wustl.edu 36 11 59016003 59016003 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59016003 59016003 G A SNP ENSG00000204989 ENST00000378245 human ensembl 54_36p 1 known missense c.198 p.M66I 0.6 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors SIM1 6492 genome.wustl.edu 36 6 100945522 100945522 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 100945522 100945522 C G SNP SIM1 NM_005068 human genbank 54_36p -1 reviewed missense c.1737 p.E579D 1 HMMPfam_SIM_C "HMMPfam_HLH,HMMSmart_HLH,HMMPfam_PAS,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC,HMMPfam_SIM_C" - no_errors SIM1 6492 genome.wustl.edu 36 6 101002802 101002802 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 101002802 101002802 G T SNP SIM1 NM_005068 human genbank 54_36p -1 reviewed missense c.791 p.T264N 1 "HMMSmart_PAS,HMMPfam_PAS_3,superfamily_SSF55785" "HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,HMMPfam_SIM_C,HMMPfam_PAS_3,HMMPfam_PAS,superfamily_SSF55785" - no_errors ASCC3 10973 genome.wustl.edu 36 6 101161625 101161625 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 101161625 101161625 T C SNP ASCC3 NM_006828 human genbank 54_36p -1 validated missense c.4846 p.I1616V 1 "superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_AAA,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMSmart_SEC63,HMMPfam_Sec63" - no_errors ASCC3 10973 genome.wustl.edu 36 6 101272671 101272671 + Splice_Site SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 101272671 101272671 C G SNP ASCC3 NM_006828 human genbank 54_36p -1 validated splice_site c.2079+1 e11+1 1 - - - no_errors LOC728098 728098 genome.wustl.edu 36 6 101444328 101444328 + RNA SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 101444328 101444328 G A SNP LOC728098 XR_015201 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene LOC442160 442160 genome.wustl.edu 36 6 10322307 10322307 + RNA SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 10322307 10322307 T C SNP LOC442160 XR_042339 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene HACE1 57531 genome.wustl.edu 36 6 105305031 105305031 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 105305031 105305031 C G SNP HACE1 NM_020771 human genbank 54_36p -1 validated missense c.2221 p.V741L 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors PREP 5550 genome.wustl.edu 36 6 105843334 105843334 + Silent SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 105843334 105843334 G A SNP PREP NM_002726 human genbank 54_36p -1 reviewed silent c.1446 p.P482 1 "superfamily_SSF53474,HMMPfam_Peptidase_S9" "superfamily_Peptidase_S9A_N,HMMPfam_Peptidase_S9_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors PREP 5550 genome.wustl.edu 36 6 105878338 105878338 + Splice_Site SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 105878338 105878338 T G SNP PREP NM_002726 human genbank 54_36p -1 reviewed splice_site c.1214-2 e10-2 1 - - - no_errors GCNT2 2651 genome.wustl.edu 36 6 10637524 10637532 + In_Frame_Del DEL GCGACGGAT GCGACGGAT - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 GCGACGGAT GCGACGGAT GCGACGGAT - GCGACGGAT GCGACGGAT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 10637524 10637532 GCGACGGAT - DEL GCNT2 NM_145649 human genbank 54_36p 1 reviewed in_frame_del c.394_402 p.TDA133in_frame_del 0.997:0.983:0.000:0.000:0.001:0.000:0.000:0.000:0.000 HMMPfam_Branch HMMPfam_Branch "(deletion:cds_exon[10637131,10638055])" no_errors AIM1 202 genome.wustl.edu 36 6 107074837 107074837 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 107074837 107074837 C T SNP AIM1 NM_001624 human genbank 54_36p 1 validated missense c.1837 p.L613F 0.01 NULL "superfamily_G_crystallin_SF,HMMSmart_XTALbg,HMMPfam_Crystall,superfamily_RicinB_like,HMMSmart_RICIN,HMMPfam_Ricin_B_lectin" - no_errors AIM1 202 genome.wustl.edu 36 6 107075882 107075907 + Frame_Shift_Del DEL AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT - novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT - AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 107075882 107075907 AGGCTAATCATATTGAAAGTGTTATT - DEL AIM1 NM_001624 human genbank 54_36p 1 validated frame_shift_del c.2882_2907 p.A962fs 0.000:0.000:0.000:0.001:0.000:0.001:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.060:0.061:0.033:0.006:0.004:0.001:0.001:0.001:0.000:0.000:0.004:0.002 NULL "HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_RicinB_like,superfamily_G_crystallin_SF" "(deletion:cds_exon[107073699,107076021])" no_errors BEND3 57673 genome.wustl.edu 36 6 107498431 107498431 + Silent SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 107498431 107498431 C T SNP BEND3 NM_001080450 human genbank 54_36p -1 provisional silent c.657 p.L219 1 NULL HMMPfam_BEN - no_errors PDSS2 57107 genome.wustl.edu 36 6 107673480 107673480 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 107673480 107673480 C G SNP PDSS2 NM_020381 human genbank 54_36p -1 validated missense c.667 p.V223L 1 superfamily_Terpenoid synthases superfamily_Terpenoid synthases - no_errors SOBP 55084 genome.wustl.edu 36 6 108061758 108061758 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 108061758 108061758 C A SNP SOBP NM_018013 human genbank 54_36p 1 validated missense c.1017 p.N339K 1 NULL NULL - no_errors LOC442240 442240 genome.wustl.edu 36 6 109214492 109214492 + RNA SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 109214492 109214492 G A SNP LOC442240 XR_016496 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene ARMC2 84071 genome.wustl.edu 36 6 109304169 109304169 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 109304169 109304169 T A SNP ARMC2 NM_032131 human genbank 54_36p 1 validated missense c.594 p.D198E 0.05 NULL superfamily_ARM-type_fold - no_errors CEP57L1 285753 genome.wustl.edu 36 6 109587359 109587359 + Splice_Site SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 109587359 109587359 G A SNP C6orf182 NM_001083535 human genbank 54_36p 1 validated splice_site c.1016+1 e8+1 1 - - - no_errors AKD1 221264 genome.wustl.edu 36 6 109961219 109961219 + Silent SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 109961219 109961219 T C SNP AKD1 NM_001001706 human genbank 54_36p -1 provisional silent c.735 p.E245 0.29 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_YHS,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK" - no_errors SYCP2L 221711 genome.wustl.edu 36 6 11006314 11006314 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 11006314 11006314 G C SNP SYCP2L NM_001040274 human genbank 54_36p 1 provisional missense c.421 p.D141H 0.97 NULL NULL - no_errors AKD1 221264 genome.wustl.edu 36 6 110102103 110102103 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 110102103 110102103 G T SNP AKD2 NM_145025 human genbank 54_36p -1 validated missense c.172 p.R58S 0.99 "superfamily_SSF52540,HMMPfam_ADK" "superfamily_SSF52540,HMMPfam_ADK" - no_errors RPF2 84154 genome.wustl.edu 36 6 111436015 111436023 + In_Frame_Del DEL CTAAAAAGT CTAAAAAGT - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 CTAAAAAGT CTAAAAAGT CTAAAAAGT - CTAAAAAGT CTAAAAAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 111436015 111436023 CTAAAAAGT - DEL BXDC1 NM_032194 human genbank 54_36p 1 validated in_frame_del c.475_483 p.KSL160in_frame_del 0.968:0.981:0.966:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Brix HMMPfam_Brix "(deletion:cds_exon[111435934,111436033])" no_errors KIAA1919 91749 genome.wustl.edu 36 6 111694142 111694142 + Silent SNP C T T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 111694142 111694142 C T SNP KIAA1919 NM_153369 human genbank 54_36p 1 validated silent c.684 p.N228 0 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors KIAA1919 91749 genome.wustl.edu 36 6 111694599 111694599 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 111694599 111694599 C A SNP KIAA1919 NM_153369 human genbank 54_36p 1 validated missense c.1141 p.P381T 0.66 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors HERV-FRD 405754 genome.wustl.edu 36 6 11212762 11212762 + Silent SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 11212762 11212762 G C SNP HERV-FRD NM_207582 human genbank 54_36p -1 provisional silent c.768 p.V256 0 NULL HMMPfam_TLV_coat - no_errors HERV-FRD 405754 genome.wustl.edu 36 6 11213309 11213309 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 11213309 11213309 A C SNP HERV-FRD NM_207582 human genbank 54_36p -1 provisional missense c.221 p.I74S 0 NULL HMMPfam_TLV_coat - no_errors LAMA4 3910 genome.wustl.edu 36 6 112550011 112550011 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 112550011 112550011 G A SNP LAMA4 NM_001105206 human genbank 54_36p -1 reviewed silent c.4374 p.H1458 1 superfamily_Concanavalin A-like lectins/glucanases "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_LAM_1,PatternScan_EGF_1,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" - no_errors LAMA4 3910 genome.wustl.edu 36 6 112682024 112682040 + Frame_Shift_Del DEL GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA - GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 112682024 112682040 GCCAGGCTGAGCTCAAA - DEL LAMA4 NM_001105206 human genbank 54_36p -1 reviewed frame_shift_del c.22_6 p.S4fs 0.491:0.957:0.996:1.000:1.000:1.000:0.999:0.998:1.000:1.000:1.000:0.999:0.999:1.000:0.999:1.000:1.000 NULL "HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_2,PatternScan_EGF_1,superfamily_EGF/Laminin" "(deletion:cds_exon[112681851,112682045])" no_errors HS3ST5 222537 genome.wustl.edu 36 6 114486016 114486016 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 114486016 114486016 G T SNP HS3ST5 NM_153612 human genbank 54_36p -1 validated missense c.139 p.L47M 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors FRK 2444 genome.wustl.edu 36 6 116370338 116370338 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 116370338 116370338 G A SNP FRK NM_002031 human genbank 54_36p -1 reviewed missense c.1450 p.R484C 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors FRK 2444 genome.wustl.edu 36 6 116431838 116431838 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 116431838 116431838 T C SNP FRK NM_002031 human genbank 54_36p -1 reviewed missense c.361 p.I121V 1 "HMMPfam_SH2,HMMSmart_SH2,superfamily_SH3,superfamily_SSF55550" "HMMPfam_SH2,HMMSmart_SH2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF55550" - no_errors RWDD1 51389 genome.wustl.edu 36 6 117020913 117020913 + Missense_Mutation SNP C A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117020913 117020913 C A SNP RWDD1 NM_015952 human genbank 54_36p 1 validated missense c.688 p.P230T 1 NULL "superfamily_UBC-like,HMMPfam_RWD,HMMSmart_SM00591" - no_errors RWDD1 51389 genome.wustl.edu 36 6 117020914 117020914 + Missense_Mutation SNP C A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117020914 117020914 C A SNP RWDD1 NM_015952 human genbank 54_36p 1 validated missense c.689 p.P230Q 1 NULL "HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like" - no_errors GPRC6A 222545 genome.wustl.edu 36 6 117220057 117220057 + Silent SNP T T G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117220057 117220057 T G SNP GPRC6A NM_148963 human genbank 54_36p -1 validated silent c.2722 p.R908 0 NULL "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3" - no_errors GPRC6A 222545 genome.wustl.edu 36 6 117228521 117228521 + Silent SNP A A T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117228521 117228521 A T SNP GPRC6A NM_148963 human genbank 54_36p -1 validated silent c.1467 p.T489 0.6 superfamily_Periplasmic binding protein-like I "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_Periplasmic binding protein-like I" - no_errors ROS1 6098 genome.wustl.edu 36 6 117738055 117738055 + Missense_Mutation SNP C T T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117738055 117738055 C T SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.6316 p.A2106T 0.96 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF63825,HMMSmart_LY,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors ROS1 6098 genome.wustl.edu 36 6 117817288 117817288 + Silent SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117817288 117817288 G T SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed silent c.1677 p.G559 0 "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" "HMMSmart_LY,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF63825" - no_errors ROS1 6098 genome.wustl.edu 36 6 117822073 117822073 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117822073 117822073 G T SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.1109 p.S370Y 1 "HMMSmart_LY,superfamily_SSF63825" "HMMSmart_LY,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF63825" - no_errors DCBLD1 285761 genome.wustl.edu 36 6 117960220 117960220 + Silent SNP G T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 117960220 117960220 G T SNP DCBLD1 NM_173674 human genbank 54_36p 1 provisional silent c.690 p.G230 0.87 "superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1" - no_errors C6orf105 84830 genome.wustl.edu 36 6 11831642 11831643 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 11831642 11831643 GC AT DNP C6orf105 NM_032744 human genbank 54_36p -1 validated missense c.584_583 p.A195I 0.018:0.002 HMMPfam_Far-17a_AIG1 HMMPfam_Far-17a_AIG1 - no_errors MCM9 254394 genome.wustl.edu 36 6 119280502 119280502 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 119280502 119280502 G A SNP MCM9 NM_153255 human genbank 54_36p -1 reviewed missense c.827 p.S276L 0.05 HMMSmart_MCM "superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540" - no_errors FAM184A 79632 genome.wustl.edu 36 6 119366432 119366432 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 119366432 119366432 C G SNP FAM184A NM_024581 human genbank 54_36p -1 validated missense c.1870 p.E624Q 1 NULL NULL - no_errors C6orf170 221322 genome.wustl.edu 36 6 121443618 121443618 + Nonstop_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 121443618 121443618 A T SNP C6orf170 NM_152730 human genbank 54_36p -1 validated nonstop c.3772 p.*1258K 0.94 NULL superfamily_Ypt/Rab-GAP domain of gyp1p - no_errors GJA1 2697 genome.wustl.edu 36 6 121810557 121810557 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 121810557 121810557 G C SNP GJA1 NM_000165 human genbank 54_36p 1 reviewed missense c.865 p.V289L 0.98 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin43" - no_errors HIVEP1 3096 genome.wustl.edu 36 6 12230760 12230760 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 12230760 12230760 G A SNP HIVEP1 NM_002114 human genbank 54_36p 1 validated missense c.2746 p.G916R 0.07 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HIVEP1 3096 genome.wustl.edu 36 6 12271558 12271558 + Silent SNP A A C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 12271558 12271558 A C SNP HIVEP1 NM_002114 human genbank 54_36p 1 validated silent c.7035 p.A2345 0 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors TRDN 10345 genome.wustl.edu 36 6 123911363 123911363 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 123911363 123911363 A T SNP TRDN NM_006073 human genbank 54_36p -1 validated nonsense c.326 p.L109* 1 HMMPfam_Triadin HMMPfam_Triadin - no_errors TRMT11 60487 genome.wustl.edu 36 6 126358864 126358864 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 126358864 126358864 G T SNP TRMT11 NM_001031712 human genbank 54_36p 1 validated missense c.197 p.R66L 1 NULL "HMMPfam_UPF0020,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_N6_MTASE" - no_errors THEMIS 387357 genome.wustl.edu 36 6 128263714 128263714 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 128263714 128263714 C A SNP C6orf190 NM_001010923 human genbank 54_36p -1 validated missense c.57 p.R19S 0.94 NULL NULL - no_errors PTPRK 5796 genome.wustl.edu 36 6 128339552 128339552 + Silent SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 128339552 128339552 A T SNP PTPRK NM_002844 human genbank 54_36p -1 validated silent c.3912 p.S1304 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPRK 5796 genome.wustl.edu 36 6 128547279 128547279 + Nonsense_Mutation SNP T A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 6 128547279 128547279 T A SNP PTPRK NM_002844 human genbank 54_36p -1 validated nonsense c.1153 p.K385* 1 superfamily_Fibronectin type III ############################################################################################################################################################################################################################################################### - no_errors LOC643778 643778 genome.wustl.edu 36 6 129521075 129521075 + RNA SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 129521075 129521075 A G SNP LOC643778 XR_017181 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LAMA2 3908 genome.wustl.edu 36 6 129754469 129754469 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 129754469 129754469 G A SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.5212 p.E1738K 1 "superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I" ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 genome.wustl.edu 36 6 129844113 129844113 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 129844113 129844113 G A SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.7585 p.V2529I 1 superfamily_ConA_like_lec_gl ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 genome.wustl.edu 36 6 129868037 129868037 + Splice_Site SNP G T T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 129868037 129868037 G T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed splice_site c.8548-1 e61-1 1 - - - no_errors L3MBTL3 84456 genome.wustl.edu 36 6 130418077 130418077 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 130418077 130418077 G A SNP L3MBTL3 NM_032438 human genbank 54_36p 1 validated silent c.651 p.S217 0 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_CCHHC domain,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors L3MBTL3 84456 genome.wustl.edu 36 6 130429263 130429263 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 130429263 130429263 G A SNP L3MBTL3 NM_032438 human genbank 54_36p 1 validated missense c.937 p.A313T 1 "HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" "HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_CCHHC domain,superfamily_Tudor/PWWP/MBT" - no_errors L3MBTL3 84456 genome.wustl.edu 36 6 130455630 130455630 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 130455630 130455630 A G SNP L3MBTL3 NM_032438 human genbank 54_36p 1 validated silent c.1566 p.A522 1 "HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" "HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_CCHHC domain,superfamily_Tudor/PWWP/MBT" - no_errors AKAP7 9465 genome.wustl.edu 36 6 131644385 131644385 + Silent SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 131644385 131644385 C G SNP AKAP7 NM_016377 human genbank 54_36p 1 reviewed silent c.807 p.P269 0.88 HMMPfam_AKAP7_RIRII_bdg "HMMPfam_AKAP7_NLS,superfamily_LigT-like,HMMPfam_AKAP7_RIRII_bdg" - no_errors ENPP3 5169 genome.wustl.edu 36 6 132037101 132037101 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132037101 132037101 G A SNP ENPP3 NM_005021 human genbank 54_36p 1 reviewed nonsense c.749 p.W250* 1 "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" "HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest,superfamily_SSF54060,HMMSmart_NUC" - no_errors ENPP1 5167 genome.wustl.edu 36 6 132212840 132212840 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132212840 132212840 C T SNP ENPP1 NM_006208 human genbank 54_36p 1 reviewed missense c.175 p.R59C 1 "HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain" "HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477" - no_errors ENPP1 5167 genome.wustl.edu 36 6 132253282 132253282 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132253282 132253282 G C SNP ENPP1 NM_006208 human genbank 54_36p 1 reviewed missense c.2560 p.E854Q 1 "HMMSmart_SM00477,superfamily_His-Me finger endonucleases" "HMMPfam_Somatomedin_B,HMMSmart_SM00201,PatternScan_SMB_1,HMMSmart_SM00477,HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like,superfamily_His-Me finger endonucleases,superfamily_Somatomedin B domain" - no_errors TAAR6 319100 genome.wustl.edu 36 6 132933914 132933914 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132933914 132933914 G T SNP TAAR6 NM_175067 human genbank 54_36p 1 provisional missense c.761 p.R254I 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors VNN1 8876 genome.wustl.edu 36 6 133046057 133046057 + Nonsense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 133046057 133046057 G C SNP VNN1 NM_004666 human genbank 54_36p -1 reviewed nonsense c.1457 p.S486* 0 NULL "superfamily_Ntlse/CNhydtse,HMMPfam_CN_hydrolase" - no_errors C6orf192 116843 genome.wustl.edu 36 6 133142141 133142141 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 133142141 133142141 C G SNP C6orf192 NM_052831 human genbank 54_36p -1 validated missense c.754 p.G252R 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors MYB 4602 genome.wustl.edu 36 6 135563199 135563199 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 135563199 135563199 G C SNP MYB NM_005375 human genbank 54_36p 1 validated missense c.1540 p.E514Q 0.96 HMMPfam_Cmyb_C "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMPfam_Wos2,HMMPfam_Cmyb_C" - no_errors BCLAF1 9774 genome.wustl.edu 36 6 136639003 136639003 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 136639003 136639003 A T SNP BCLAF1 NM_014739 human genbank 54_36p -1 reviewed missense c.1353 p.D451E 1 NULL NULL - no_errors MAP3K5 4217 genome.wustl.edu 36 6 137061319 137061319 + Splice_Site SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 137061319 137061319 C G SNP MAP3K5 NM_005923 human genbank 54_36p -1 reviewed splice_site c.806+1 e4+1 1 - - - no_errors SLC35D3 340146 genome.wustl.edu 36 6 137287256 137287256 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 137287256 137287256 G C SNP SLC35D3 NM_001008783 human genbank 54_36p 1 provisional missense c.980 p.G327A 1 NULL HMMPfam_UAA - no_errors RNF182 221687 genome.wustl.edu 36 6 14086034 14086034 + Silent SNP T T C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 14086034 14086034 T C SNP RNF182 NM_152737 human genbank 54_36p 1 provisional silent c.705 p.V235 0.9 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors GPR126 57211 genome.wustl.edu 36 6 142730653 142730653 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 142730653 142730653 T G SNP GPR126 NM_198569 human genbank 54_36p 1 validated missense c.358 p.F120V 1 "superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB" "superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_SSF81321,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors HIVEP2 3097 genome.wustl.edu 36 6 143132492 143132492 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 143132492 143132492 G C SNP HIVEP2 NM_006734 human genbank 54_36p -1 provisional missense c.5077 p.L1693V 1 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors HIVEP2 3097 genome.wustl.edu 36 6 143137099 143137099 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 143137099 143137099 C T SNP HIVEP2 NM_006734 human genbank 54_36p -1 provisional missense c.470 p.S157N 0.98 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors PEX3 8504 genome.wustl.edu 36 6 143834278 143834278 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 143834278 143834278 T A SNP PEX3 NM_003630 human genbank 54_36p 1 reviewed missense c.522 p.D174E 1 HMMPfam_Peroxin-3 HMMPfam_Peroxin-3 - no_errors PEX3 8504 genome.wustl.edu 36 6 143834393 143834393 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 143834393 143834393 C G SNP PEX3 NM_003630 human genbank 54_36p 1 reviewed missense c.530 p.T177R 1 HMMPfam_Peroxin-3 HMMPfam_Peroxin-3 - no_errors UTRN 7402 genome.wustl.edu 36 6 144848293 144848293 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 144848293 144848293 T G SNP UTRN NM_007124 human genbank 54_36p 1 reviewed missense c.3767 p.M1256R 0.06 "superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC" ############################################################################################################################################################################################################################################################### - no_errors FBXO30 84085 genome.wustl.edu 36 6 146168968 146168968 + Silent SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 146168968 146168968 G A SNP FBXO30 NM_032145 human genbank 54_36p -1 reviewed silent c.267 p.C89 1 superfamily_Traf_like "superfamily_Traf_like,superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX" - no_errors UST 10090 genome.wustl.edu 36 6 149384304 149384304 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 149384304 149384304 G C SNP UST NM_005715 human genbank 54_36p 1 validated missense c.931 p.D311H 1 HMMPfam_HS2ST HMMPfam_HS2ST - no_errors LATS1 9113 genome.wustl.edu 36 6 150045932 150045932 + Silent SNP T C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 150045932 150045932 T C SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed silent c.1986 p.K662 1 NULL "superfamily_UBA-like,HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C" - no_errors LATS1 9113 genome.wustl.edu 36 6 150046401 150046401 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 150046401 150046401 G C SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed missense c.1517 p.P506R 1 NULL "HMMPfam_UBA,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_UBA-like,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors PCMT1 5110 genome.wustl.edu 36 6 150134043 150134043 + Silent SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 150134043 150134043 C T SNP PCMT1 NM_005389 human genbank 54_36p 1 provisional silent c.108 p.D36 1 "HMMPfam_PCMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_PCMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_PCMT" - no_errors IYD 389434 genome.wustl.edu 36 6 150752225 150752225 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 150752225 150752225 C A SNP IYD NM_203395 human genbank 54_36p 1 validated missense c.223 p.P75T 0.97 NULL "superfamily_FMN-dependent nitroreductase-like,HMMPfam_Nitroreductase" - no_errors PLEKHG1 57480 genome.wustl.edu 36 6 151096794 151096794 + Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 151096794 151096794 C G SNP PLEKHG1 NM_001029884 human genbank 54_36p 1 provisional nonsense c.284 p.S95* 0 superfamily_DBL homology domain (DH-domain) "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PLEKHG1 57480 genome.wustl.edu 36 6 151131503 151131503 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 151131503 151131503 C T SNP PLEKHG1 NM_001029884 human genbank 54_36p 1 provisional missense c.448 p.P150S 1 "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors MTHFD1L 25902 genome.wustl.edu 36 6 151372769 151372769 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 151372769 151372769 G C SNP MTHFD1L NM_015440 human genbank 54_36p 1 validated missense c.2247 p.M749I 1 "HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_FTHFS_2" ############################################################################################################################################################################################################################################################### - no_errors MTHFD1L 25902 genome.wustl.edu 36 6 151378379 151378379 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 151378379 151378379 G C SNP MTHFD1L NM_015440 human genbank 54_36p 1 validated missense c.2443 p.E815Q 0.96 "HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors MTHFD1L 25902 genome.wustl.edu 36 6 151399838 151399871 + Frame_Shift_Del DEL TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA - novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA - TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 151399838 151399871 TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA - DEL MTHFD1L NM_015440 human genbank 54_36p 1 validated frame_shift_del c.2739_2772 p.L914fs 0.999:1.000:0.999:0.954:1.000:1.000:1.000:1.000:0.993:0.029:0.003:0.008:0.034:0.797:0.979:0.975:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.153:0.895:0.886:0.582:0.997:1.000:0.989 "HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[151399794,151399946])" no_errors SYNE1 23345 genome.wustl.edu 36 6 152725072 152725072 + Nonsense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 152725072 152725072 C A SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed nonsense c.10225 p.E3409* 1 superfamily_Spectrin repeat "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH" - no_errors MYCT1 80177 genome.wustl.edu 36 6 153084576 153084576 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 153084576 153084576 T A SNP MYCT1 NM_025107 human genbank 54_36p 1 validated missense c.203 p.L68H 0.5 NULL NULL - no_errors CNKSR3 154043 genome.wustl.edu 36 6 154785390 154785390 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 154785390 154785390 G T SNP CNKSR3 NM_173515 human genbank 54_36p -1 validated missense c.887 p.S296Y 0.95 superfamily_PDZ "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1,HMMPfam_CRIC_ras_sig,HMMPfam_PDZ,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_DUF1170" - no_errors TIAM2 26230 genome.wustl.edu 36 6 155492159 155492159 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 155492159 155492159 C T SNP TIAM2 NM_012454 human genbank 54_36p 1 reviewed missense c.110 p.A37V 0.95 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00455,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1" - no_errors JARID2 3720 genome.wustl.edu 36 6 15595579 15595579 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 15595579 15595579 G T SNP JARID2 NM_004973 human genbank 54_36p 1 reviewed nonsense c.733 p.E245* 1 NULL "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2" - no_errors ZDHHC14 79683 genome.wustl.edu 36 6 157994585 157994585 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 157994585 157994585 C G SNP ZDHHC14 NM_024630 human genbank 54_36p 1 provisional missense c.1006 p.Q336E 1 NULL HMMPfam_zf-DHHC - no_errors TMEM181 57583 genome.wustl.edu 36 6 158922008 158922008 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 158922008 158922008 G T SNP TMEM181 NM_020823 human genbank 54_36p 1 validated missense c.572 p.S191I 0.93 NULL NULL - no_errors FNDC1 84624 genome.wustl.edu 36 6 159573524 159573524 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 159573524 159573524 G A SNP FNDC1 NM_032532 human genbank 54_36p 1 validated missense c.1990 p.A664T 0 NULL "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors FNDC1 84624 genome.wustl.edu 36 6 159590077 159590077 + Silent SNP G A A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 159590077 159590077 G A SNP FNDC1 NM_032532 human genbank 54_36p 1 validated silent c.4707 p.T1569 0.17 NULL "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors IGF2R 3482 genome.wustl.edu 36 6 160424983 160424983 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 160424983 160424983 C G SNP IGF2R NM_000876 human genbank 54_36p 1 reviewed missense c.5845 p.R1949G 0.92 "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR" "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1" - no_errors SLC22A3 6581 genome.wustl.edu 36 6 160792073 160792073 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 160792073 160792073 C T SNP SLC22A3 NM_021977 human genbank 54_36p 1 reviewed missense c.1666 p.L556F 0.22 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1" - no_errors LPA 4018 genome.wustl.edu 36 6 160930625 160930625 + Silent SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 160930625 160930625 G T SNP LPA NM_005577 human genbank 54_36p -1 validated silent c.3897 p.S1299 0.64 "HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like" "HMMPfam_Kringle,HMMSmart_SM00130,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors LPA 4018 genome.wustl.edu 36 6 160976228 160976228 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 160976228 160976228 G A SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.992 p.T331M 0.04 "HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like" "HMMPfam_Kringle,HMMSmart_SM00130,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors MAP3K4 4216 genome.wustl.edu 36 6 161433095 161433095 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 161433095 161433095 A G SNP MAP3K4 NM_005922 human genbank 54_36p 1 reviewed missense c.3199 p.I1067V 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CCR6 1235 genome.wustl.edu 36 6 167469736 167469736 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 167469736 167469736 G A SNP CCR6 NM_004367 human genbank 54_36p 1 reviewed missense c.28 p.D10N 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MLLT4 4301 genome.wustl.edu 36 6 168094982 168094982 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 168094982 168094982 A G SNP MLLT4 NM_001040001 human genbank 54_36p 1 validated missense c.4075 p.I1359V 0.01 NULL "HMMPfam_RA,HMMSmart_RA,superfamily_SSF54236,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA,HMMPfam_DIL,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors MLLT4 4301 genome.wustl.edu 36 6 168095207 168095207 + Nonsense_Mutation SNP A T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 168095207 168095207 A T SNP MLLT4 NM_001040001 human genbank 54_36p 1 validated nonsense c.4300 p.R1434* 0.13 NULL "HMMPfam_RA,HMMSmart_RA,HMMPfam_FHA,HMMSmart_FHA,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,superfamily_SMAD_FHA,HMMPfam_DIL,superfamily_SSF54236" - no_errors THBS2 7058 genome.wustl.edu 36 6 169364300 169364301 + Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 - - - C - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 169364300 169364301 - C INS THBS2 NM_003247 human genbank 54_36p -1 reviewed frame_shift_ins c.3190_3189 p.S1063fs 1.000:0.997 "superfamily_ConA_like_lec_gl,HMMPfam_TSP_C" ############################################################################################################################################################################################################################################################### - no_errors C6orf70 55780 genome.wustl.edu 36 6 169921305 169921306 + Missense_Mutation DNP GC AG AG novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GC GC AG AG GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 169921305 169921306 GC AG DNP C6orf70 NM_018341 human genbank 54_36p 1 validated missense c.1842_1843 p.Q615E 1.000:1.000 NULL NULL - no_errors DLL1 28514 genome.wustl.edu 36 6 170439310 170439310 + Silent SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 170439310 170439310 A G SNP DLL1 NM_005618 human genbank 54_36p -1 reviewed silent c.612 p.C204 0.97 "HMMPfam_DSL,HMMSmart_SM00051" "HMMPfam_MNNL,HMMPfam_DSL,HMMSmart_SM00051,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_CA" - no_errors FAM120B 84498 genome.wustl.edu 36 6 170555583 170555584 + Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 - - - T - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 170555583 170555584 - T INS FAM120B NM_032448 human genbank 54_36p 1 provisional frame_shift_ins c.2713_2714 p.D905fs 0.913:0.942 NULL "superfamily_PIN domain-like,PatternScan_FGGY_KINASES_1" - no_errors RBM24 221662 genome.wustl.edu 36 6 17392921 17392921 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 17392921 17392921 G A SNP RBM24 NM_153020 human genbank 54_36p 1 validated missense c.212 p.G71E 1 NULL PatternScan_AA_TRNA_LIGASE_I - no_errors CAP2 10486 genome.wustl.edu 36 6 17651147 17651147 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 17651147 17651147 G T SNP CAP2 NM_006366 human genbank 54_36p 1 reviewed missense c.1103 p.G368V 1 "superfamily_C-terminal domain of adenylylcyclase associated protein,HMMPfam_CAP_C,HMMSmart_SM00673" "HMMPfam_CAP_N,PatternScan_CAP_1,superfamily_N-terminal domain of adenylylcyclase associated protein CAP,PatternScan_ADH_IRON_2,superfamily_C-terminal domain of adenylylcyclase associated protein,HMMPfam_CAP_C,HMMSmart_SM00673,PatternScan_CAP_2" - no_errors KIF13A 63971 genome.wustl.edu 36 6 17896057 17896057 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 17896057 17896057 C G SNP KIF13A NM_022113 human genbank 54_36p -1 validated missense c.3290 p.R1097T 1 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA" - no_errors KIF13A 63971 genome.wustl.edu 36 6 17942225 17942225 + Silent SNP T T C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 17942225 17942225 T C SNP KIF13A NM_022113 human genbank 54_36p -1 validated silent c.1212 p.K404 1 NULL "HMMPfam_FHA,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_SMAD/FHA domain,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CDKAL1 54901 genome.wustl.edu 36 6 20954307 20954307 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 20954307 20954307 T A SNP CDKAL1 NM_017774 human genbank 54_36p 1 validated missense c.661 p.C221S 1 "superfamily_Radical SAM enzymes,HMMSmart_SM00729,PatternScan_UPF0004,HMMPfam_Radical_SAM" "HMMPfam_UPF0004,superfamily_Radical SAM enzymes,HMMSmart_SM00729,PatternScan_UPF0004,HMMPfam_Radical_SAM,HMMPfam_TRAM" - no_errors GPLD1 2822 genome.wustl.edu 36 6 24570966 24570966 + Silent SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 24570966 24570966 T A SNP GPLD1 NM_001503 human genbank 54_36p -1 reviewed silent c.858 p.A286 0 NULL "HMMSmart_SM00191,HMMPfam_FG-GAP,superfamily_Integrin alpha N-terminal domain" - no_errors GPLD1 2822 genome.wustl.edu 36 6 24570970 24570970 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 24570970 24570970 A G SNP GPLD1 NM_001503 human genbank 54_36p -1 reviewed missense c.854 p.I285T 0.91 NULL "HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain" - no_errors KIAA0319 9856 genome.wustl.edu 36 6 24684575 24684575 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 24684575 24684575 C G SNP KIAA0319 NM_014809 human genbank 54_36p -1 validated missense c.1734 p.Q578H 1 "superfamily_PKD domain,HMMSmart_SM00089" "HMMSmart_SM00765,HMMSmart_SM00060,HMMSmart_SM00089,superfamily_PKD domain" - no_errors TDP2 51567 genome.wustl.edu 36 6 24774777 24774777 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 24774777 24774777 G T SNP TTRAP NM_016614 human genbank 54_36p -1 reviewed missense c.207 p.S69R 0 NULL "superfamily_UBA_like,superfamily_Exo_endo_phos,HMMPfam_Exo_endo_phos" - no_errors LRRC16A 55604 genome.wustl.edu 36 6 25714415 25714415 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 25714415 25714415 C T SNP LRRC16A NM_017640 human genbank 54_36p 1 validated missense c.3647 p.S1216F 1 NULL superfamily_SSF52047 - no_errors SCGN 10590 genome.wustl.edu 36 6 25778216 25778216 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 25778216 25778216 G A SNP SCGN NM_006998 human genbank 54_36p 1 reviewed missense c.404 p.R135Q 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors SLC17A3 10786 genome.wustl.edu 36 6 25970218 25970218 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 25970218 25970218 A T SNP SLC17A3 NM_001098486 human genbank 54_36p -1 validated missense c.322 p.S108T 0.73 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors HIST1H3A 8350 genome.wustl.edu 36 6 26128756 26128756 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26128756 26128756 G T SNP HIST1H3A NM_003529 human genbank 54_36p 1 reviewed missense c.60 p.Q20H 1 "superfamily_Histone-fold,PatternScan_HISTONE_H3_1" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H3B 8358 genome.wustl.edu 36 6 26140117 26140117 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26140117 26140117 C G SNP HIST1H3B NM_003537 human genbank 54_36p -1 reviewed missense c.151 p.E51Q 1 "superfamily_Histone-fold,HMMSmart_SM00428" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H1C 3006 genome.wustl.edu 36 6 26163994 26163994 + Nonstop_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26163994 26163994 C G SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed nonstop c.642 p.*214Y 0.68 NULL "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,HMMPfam_Linker_histone" - no_errors HIST1H1C 3006 genome.wustl.edu 36 6 26164625 26164625 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26164625 26164625 G C SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed missense c.11 p.T4S 0.98 NULL "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain" - no_errors HIST1H2BC 8347 genome.wustl.edu 36 6 26232094 26232094 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26232094 26232094 C A SNP HIST1H2BC NM_003526 human genbank 54_36p -1 reviewed missense c.18 p.K6N 0.99 superfamily_Histone-fold "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H2BD 3017 genome.wustl.edu 36 6 26266730 26266730 + Silent SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26266730 26266730 C G SNP HIST1H2BD NM_021063 human genbank 54_36p 1 reviewed silent c.354 p.A118 1 "superfamily_Histone-fold,HMMSmart_SM00427" "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H2BG 8339 genome.wustl.edu 36 6 26324802 26324802 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26324802 26324802 T C SNP HIST1H2BG NM_003518 human genbank 54_36p -1 reviewed missense c.49 p.K17E 1 superfamily_Histone-fold "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H2BH 8345 genome.wustl.edu 36 6 26359889 26359889 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26359889 26359889 C T SNP HIST1H2BH NM_003524 human genbank 54_36p 1 reviewed missense c.32 p.P11L 1 superfamily_Histone-fold "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H4H 8365 genome.wustl.edu 36 6 26393660 26393660 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26393660 26393660 G A SNP HIST1H4H NM_003543 human genbank 54_36p -1 reviewed missense c.47 p.A16V 1 "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HIST1H4H 8365 genome.wustl.edu 36 6 26393702 26393702 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26393702 26393702 G C SNP HIST1H4H NM_003543 human genbank 54_36p -1 reviewed missense c.5 p.S2C 1 superfamily_Histone-fold "HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold,PatternScan_HISTONE_H4" - no_errors BTN1A1 696 genome.wustl.edu 36 6 26610033 26610033 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 26610033 26610033 C A SNP BTN1A1 NM_001732 human genbank 54_36p 1 validated missense c.316 p.R106S 0 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors HIST1H2AG 8969 genome.wustl.edu 36 6 27208837 27208837 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 27208837 27208837 G T SNP HIST1H2AG NM_021064 human genbank 54_36p 1 reviewed missense c.8 p.G3V 1 "superfamily_Histone-fold,HMMSmart_SM00414" "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors PRSS16 10279 genome.wustl.edu 36 6 27324878 27324878 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 27324878 27324878 C T SNP PRSS16 NM_005865 human genbank 54_36p 1 reviewed missense c.358 p.P120S 0.8 "HMMPfam_Peptidase_S28,superfamily_SSF53474" "HMMPfam_Peptidase_S28,superfamily_SSF53474" - no_errors HIST1H3H 8357 genome.wustl.edu 36 6 27885855 27885855 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 27885855 27885855 C G SNP HIST1H3H NM_003536 human genbank 54_36p 1 reviewed missense c.25 p.R9G 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H4J 8363 genome.wustl.edu 36 6 27900168 27900168 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 27900168 27900168 G T SNP HIST1H4J NM_021968 human genbank 54_36p 1 reviewed missense c.287 p.R96L 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HIST1H4L 8368 genome.wustl.edu 36 6 27949195 27949195 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 27949195 27949195 C T SNP HIST1H4L NM_003546 human genbank 54_36p -1 reviewed missense c.73 p.D25N 1 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HIST1H2AM 8336 genome.wustl.edu 36 6 27968906 27968906 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 27968906 27968906 T C SNP HIST1H2AM NM_003514 human genbank 54_36p -1 reviewed missense c.1 p.M1V 0.99 NULL "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors HIST1H2BO 8348 genome.wustl.edu 36 6 27969325 27969325 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 27969325 27969325 G A SNP HIST1H2BO NM_003527 human genbank 54_36p 1 reviewed missense c.106 p.E36K 1 "superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone" "superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors TOB2P1 222699 genome.wustl.edu 36 6 28294429 28294429 + RNA SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 28294429 28294429 G T SNP LOC222699 NR_002936 human genbank 54_36p -1 validated rna NULL NULL 0.15 - - - pseudogene NKAPL 222698 genome.wustl.edu 36 6 28335697 28335697 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 28335697 28335697 A G SNP NKAPL NM_001007531 human genbank 54_36p 1 provisional missense c.569 p.K190R 1 NULL HMMPfam_DUF926 - no_errors PGBD1 84547 genome.wustl.edu 36 6 28377695 28377695 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 28377695 28377695 C T SNP PGBD1 NM_032507 human genbank 54_36p 1 reviewed silent c.2085 p.I695 1 NULL "HMMPfam_SCAN,HMMSmart_SCAN" - no_errors ZNF323 64288 genome.wustl.edu 36 6 28402343 28402343 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 28402343 28402343 T A SNP ZNF323 NM_145909 human genbank 54_36p -1 validated missense c.800 p.Y267F 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GPX6 257202 genome.wustl.edu 36 6 28580113 28580113 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 28580113 28580113 G C SNP GPX6 NM_182701 human genbank 54_36p -1 reviewed missense c.601 p.Q201E 0 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2" - pseudogene GPX6 257202 genome.wustl.edu 36 6 28582114 28582114 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 28582114 28582114 C A SNP GPX6 NM_182701 human genbank 54_36p -1 reviewed nonsense c.313 p.G105* 1 "HMMPfam_GSHPx,superfamily_Thioredoxin-like" "HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2,superfamily_Thioredoxin-like" - pseudogene OR2J2 26707 genome.wustl.edu 36 6 29250309 29250310 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GG GG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 29250309 29250310 GG TT DNP OR2J2 NM_030905 human genbank 54_36p 1 validated missense c.918_919 p.LG306FW 0.007:0.005 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5V1 81696 genome.wustl.edu 36 6 29339507 29339507 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 29339507 29339507 C A SNP uc003nmb.1 ENST00000377164 human ensembl 54_36p -1 known missense c.329 p.C110F 0.3 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors DUSP22 56940 genome.wustl.edu 36 6 293818 293818 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 293818 293818 C T SNP DUSP22 NM_020185 human genbank 54_36p 1 provisional missense c.485 p.A162V 0.95 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195" - no_errors OR14J1 442191 genome.wustl.edu 36 6 29383386 29383386 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 29383386 29383386 G A SNP OR14J1 NM_030946 human genbank 54_36p 1 provisional missense c.941 p.C314Y 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5V1 81696 genome.wustl.edu 36 6 29431442 29431442 + Silent SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29431442 29431442 G A SNP OR5V1 NM_030876 human genbank 54_36p -1 validated silent c.510 p.G170 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR12D3 81797 genome.wustl.edu 36 6 29450715 29450715 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29450715 29450715 G A SNP OR12D3 NM_030959 human genbank 54_36p -1 provisional missense c.329 p.A110V 0 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR12D2 26529 genome.wustl.edu 36 6 29473164 29473164 + Silent SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29473164 29473164 C T SNP OR12D2 NM_013936 human genbank 54_36p 1 reviewed silent c.709 p.L237 0.74 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors NQO2 4835 genome.wustl.edu 36 6 2960781 2960781 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 2960781 2960781 A T SNP NQO2 NM_000904 human genbank 54_36p 1 validated missense c.322 p.S108C 1 "HMMPfam_Flavodoxin_2,superfamily_Flavoproteins" "HMMPfam_Flavodoxin_2,superfamily_Flavoproteins" - no_errors GABBR1 2550 genome.wustl.edu 36 6 29685104 29685104 + Silent SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29685104 29685104 G C SNP GABBR1 NM_001470 human genbank 54_36p -1 reviewed silent c.1740 p.V580 1 NULL "superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_7tm_3" - no_errors GABBR1 2550 genome.wustl.edu 36 6 29696888 29696888 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29696888 29696888 T C SNP GABBR1 NM_001470 human genbank 54_36p -1 reviewed missense c.1292 p.N431S 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_ANF_receptor,superfamily_Complement control module/SCR domain,HMMPfam_7tm_3,superfamily_Periplasmic binding protein-like I" - no_errors MOG 4340 genome.wustl.edu 36 6 29746141 29746141 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29746141 29746141 C T SNP MOG NM_002433 human genbank 54_36p 1 reviewed nonsense c.697 p.R233* 0.99 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IGv" - no_errors HLA-G 3135 genome.wustl.edu 36 6 29905345 29905345 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 29905345 29905345 C T SNP HLA-G NM_002127 human genbank 54_36p 1 reviewed missense c.791 p.T264I 1 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors HLA-G 3135 genome.wustl.edu 36 6 29905688 29905688 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 29905688 29905688 G T SNP HLA-G NM_002127 human genbank 54_36p 1 reviewed missense c.1012 p.D338Y 1 NULL "HMMPfam_MHC_I,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin" - no_errors HLA-A 3105 genome.wustl.edu 36 6 30018561 30018576 + Frame_Shift_Del DEL GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT - GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30018561 30018576 GCGGGGAGCCCCGCTT - DEL HLA-A NM_002116 human genbank 54_36p 1 reviewed frame_shift_del c.122_137 p.R41fs 0.001:0.001:0.003:0.003:0.002:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.000:0.001:0.006:0.008 "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain" "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,HMMPfam_C1-set,superfamily_Immunoglobulin,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_MHC_I_C" "(deletion:cds_exon[30018513,30018782])" no_errors PPP1R11 6992 genome.wustl.edu 36 6 30144886 30144886 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30144886 30144886 G T SNP PPP1R11 NM_021959 human genbank 54_36p 1 reviewed missense c.205 p.A69S 1 HMMPfam_PPI_Ypi1 HMMPfam_PPI_Ypi1 - no_errors TRIM26 7726 genome.wustl.edu 36 6 30272432 30272432 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30272432 30272432 C T SNP TRIM26 NM_003449 human genbank 54_36p -1 validated missense c.605 p.R202Q 0.92 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors TRIM39 56658 genome.wustl.edu 36 6 30416065 30416065 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30416065 30416065 A G SNP TRIM39 NM_021253 human genbank 54_36p 1 reviewed missense c.841 p.I281V 0 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors TRIM39 56658 genome.wustl.edu 36 6 30417509 30417509 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30417509 30417509 G C SNP TRIM39 NM_021253 human genbank 54_36p 1 reviewed missense c.1051 p.V351L 0.9 HMMSmart_SM00589 "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,HMMPfam_SPRY,HMMSmart_SM00589,PatternScan_ZF_RING_1,HMMSmart_SM00449,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors TRIM39 56658 genome.wustl.edu 36 6 30417764 30417764 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30417764 30417764 G A SNP TRIM39 NM_021253 human genbank 54_36p 1 reviewed missense c.1306 p.G436R 0.98 "HMMPfam_SPRY,HMMSmart_SM00449" "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,HMMPfam_SPRY,HMMSmart_SM00589,PatternScan_ZF_RING_1,HMMSmart_SM00449,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors PPP1R10 5514 genome.wustl.edu 36 6 30680465 30680465 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30680465 30680465 G T SNP PPP1R10 NM_002714 human genbank 54_36p -1 reviewed missense c.981 p.S327R 0.01 NULL "HMMSmart_SM00509,HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors ATAT1 79969 genome.wustl.edu 36 6 30718541 30718541 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30718541 30718541 G C SNP C6orf134 NM_024909 human genbank 54_36p 1 validated missense c.742 p.E248Q 1 NULL HMMPfam_DUF738 - no_errors TUBB 203068 genome.wustl.edu 36 6 30799238 30799238 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 30799238 30799238 C T SNP TUBB NM_178014 human genbank 54_36p 1 provisional silent c.420 p.G140 0.99 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors DDR1 780 genome.wustl.edu 36 6 30971186 30971186 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 30971186 30971186 C T SNP DDR1 NM_013994 human genbank 54_36p 1 reviewed missense c.1540 p.R514C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors VARS2 57176 genome.wustl.edu 36 6 31000125 31000125 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 31000125 31000125 G A SNP VARS2 NM_020442 human genbank 54_36p 1 provisional missense c.2482 p.V828M 0.88 "superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1" "superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1" - no_errors CDSN 1041 genome.wustl.edu 36 6 31191799 31191799 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 31191799 31191799 C G SNP CDSN NM_001264 human genbank 54_36p -1 reviewed missense c.1572 p.E524D 0.32 NULL PatternScan_AA_TRANSFER_CLASS_2 - no_errors MICB 4277 genome.wustl.edu 36 6 31573958 31573959 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 31573958 31573959 GG TT DNP MICB NM_005931 human genbank 54_36p 1 reviewed missense c.9_10 p.G4C 0.001:0.000 NULL "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" - no_errors TNF 7124 genome.wustl.edu 36 6 31653042 31653042 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 31653042 31653042 C T SNP TNF NM_000594 human genbank 54_36p 1 reviewed missense c.451 p.L151F 0.96 "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF" "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1" - no_errors BAT2 7916 genome.wustl.edu 36 6 31702885 31702885 + Silent SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 31702885 31702885 C G SNP BAT2 NM_080686 human genbank 54_36p 1 reviewed silent c.1221 p.A407 1 NULL HMMPfam_BAT2_N - no_errors MSH5 4439 genome.wustl.edu 36 6 31823189 31823189 + Splice_Site SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 31823189 31823189 G T SNP MSH5 NM_025259 human genbank 54_36p 1 reviewed splice_site c.863+1 e9+1 1 - - - no_errors VARS 7407 genome.wustl.edu 36 6 31854754 31854754 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 31854754 31854754 G A SNP VARS NM_006295 human genbank 54_36p -1 reviewed missense c.3695 p.P1232L 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors SLC44A4 80736 genome.wustl.edu 36 6 31946600 31946600 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 31946600 31946600 T C SNP SLC44A4 NM_025257 human genbank 54_36p -1 validated missense c.905 p.Y302C 1 NULL HMMPfam_DUF580 - no_errors EHMT2 10919 genome.wustl.edu 36 6 31972245 31972245 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 31972245 31972245 G A SNP EHMT2 NM_006709 human genbank 54_36p -1 reviewed missense c.356 p.S119F 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SM00317" - no_errors C2 717 genome.wustl.edu 36 6 32004487 32004487 + Splice_Site SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 32004487 32004487 G A SNP C2 NM_000063 human genbank 54_36p 1 reviewed splice_site c.257-1 e3-1 0.56 - - - no_errors SKIV2L 6499 genome.wustl.edu 36 6 32039837 32039837 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 32039837 32039837 C T SNP SKIV2L NM_006929 human genbank 54_36p 1 reviewed missense c.1816 p.R606C 1 superfamily_SSF52540 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT" - no_errors CYP21A2 1589 genome.wustl.edu 36 6 32114194 32114196 + In_Frame_Del DEL CTG CTG - novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 CTG CTG CTG - CTG CTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 32114194 32114196 CTG - DEL CYP21A2 NM_000500 human genbank 54_36p 1 reviewed in_frame_del c.16_18 p.L9in_frame_del 0.796:0.973:0.975 NULL "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" "(deletion:cds_exon[32114179,32114380])" no_errors TNXB 7148 genome.wustl.edu 36 6 32143602 32143602 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 32143602 32143602 C A SNP TNXB NM_019105 human genbank 54_36p -1 reviewed missense c.6574 p.G2192C 0.99 "HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3" ############################################################################################################################################################################################################################################################### - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32280085 32280085 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 32280085 32280085 T A SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.2925 p.Q975H 0.99 "HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF" ############################################################################################################################################################################################################################################################### - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32296287 32296287 + Silent SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 32296287 32296287 C G SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed silent c.1032 p.V344 1 "HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32296776 32296776 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 32296776 32296776 C T SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.756 p.M252I 0.63 "HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32298323 32298323 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 32298323 32298323 G A SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.394 p.R132C 0.97 "HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors BRD2 6046 genome.wustl.edu 36 6 33053885 33053885 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33053885 33053885 G C SNP BRD2 NM_005104 human genbank 54_36p 1 reviewed missense c.1583 p.R528P 0.74 NULL "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors COL11A2 1302 genome.wustl.edu 36 6 33262425 33262425 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33262425 33262425 G T SNP COL11A2 NM_080680 human genbank 54_36p -1 reviewed missense c.755 p.P252Q 0.77 NULL "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors RXRB 6257 genome.wustl.edu 36 6 33271352 33271352 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33271352 33271352 G A SNP RXRB NM_021976 human genbank 54_36p -1 reviewed missense c.1229 p.S410L 0.97 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors RXRB 6257 genome.wustl.edu 36 6 33273583 33273583 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33273583 33273583 G A SNP RXRB NM_021976 human genbank 54_36p -1 reviewed missense c.754 p.R252C 1 "HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors RING1 6015 genome.wustl.edu 36 6 33285759 33285759 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33285759 33285759 T G SNP RING1 NM_002931 human genbank 54_36p 1 reviewed missense c.329 p.I110S 1 superfamily_RING/U-box "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors VPS52 6293 genome.wustl.edu 36 6 33339243 33339243 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33339243 33339243 G C SNP VPS52 NM_022553 human genbank 54_36p -1 reviewed missense c.1790 p.T597R 1 HMMPfam_Vps52 HMMPfam_Vps52 - no_errors VPS52 6293 genome.wustl.edu 36 6 33339806 33339806 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33339806 33339806 G C SNP VPS52 NM_022553 human genbank 54_36p -1 reviewed missense c.1577 p.T526R 1 HMMPfam_Vps52 HMMPfam_Vps52 - no_errors B3GALT4 8705 genome.wustl.edu 36 6 33353260 33353260 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33353260 33353260 G T SNP B3GALT4 NM_003782 human genbank 54_36p 1 reviewed missense c.86 p.G29V 0.05 NULL "HMMPfam_Galactosyl_T,PatternScan_PARATHYROID" - no_errors TAPBP 6892 genome.wustl.edu 36 6 33380202 33380202 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 33380202 33380202 G A SNP TAPBP NM_003190 human genbank 54_36p -1 reviewed missense c.1060 p.H354Y 0.29 "superfamily_SSF48726,HMMPfam_C1-set" "superfamily_SSF48726,HMMPfam_C1-set" - no_errors ZBTB22 9278 genome.wustl.edu 36 6 33392524 33392524 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33392524 33392524 G A SNP ZBTB22 NM_005453 human genbank 54_36p -1 validated nonsense c.148 p.Q50* 1 "superfamily_POZ domain,HMMPfam_BTB" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LYPLA2P1 653639 genome.wustl.edu 36 6 33441922 33441922 + RNA SNP A A G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33441922 33441922 A G SNP LYPLA2P1 NR_001444 human genbank 54_36p -1 provisional rna NULL NULL 1 - - - pseudogene LYPLA2P1 653639 genome.wustl.edu 36 6 33441941 33441941 + RNA SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33441941 33441941 C T SNP LYPLA2P1 NR_001444 human genbank 54_36p -1 provisional rna NULL NULL 0.97 - - - pseudogene SYNGAP1 8831 genome.wustl.edu 36 6 33513723 33513723 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 33513723 33513723 G A SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated missense c.1018 p.G340R 1 "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" - no_errors SYNGAP1 8831 genome.wustl.edu 36 6 33518684 33518684 + Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33518684 33518684 A T SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated nonsense c.2332 p.K778* 0.96 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like" - no_errors SYNGAP1 8831 genome.wustl.edu 36 6 33519570 33519570 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 33519570 33519570 G T SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated missense c.3218 p.S1073I 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like" - no_errors BAK1 578 genome.wustl.edu 36 6 33651640 33651640 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 33651640 33651640 G A SNP BAK1 NM_001188 human genbank 54_36p -1 reviewed silent c.114 p.Y38 1 superfamily_Bcl-2 inhibitors of programmed cell death "superfamily_Bcl-2 inhibitors of programmed cell death,PatternScan_BH3,HMMPfam_Bcl-2,HMMSmart_SM00337,PatternScan_BH1,PatternScan_BH2" - no_errors GRM4 2914 genome.wustl.edu 36 6 34104094 34104094 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 34104094 34104094 C A SNP GRM4 NM_000841 human genbank 54_36p -1 reviewed missense c.2470 p.V824F 1 HMMPfam_7tm_3 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors SPDEF 25803 genome.wustl.edu 36 6 34620202 34620202 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 34620202 34620202 G A SNP SPDEF NM_012391 human genbank 54_36p -1 provisional silent c.9 p.S3 1 NULL "superfamily_SAM_homology,HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors C6orf106 64771 genome.wustl.edu 36 6 34682583 34682583 + Silent SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 34682583 34682583 C A SNP C6orf106 NM_024294 human genbank 54_36p -1 validated silent c.588 p.T196 1 NULL superfamily_UBA-like - no_errors UHRF1BP1 54887 genome.wustl.edu 36 6 34934072 34934072 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 34934072 34934072 T A SNP UHRF1BP1 NM_017754 human genbank 54_36p 1 validated missense c.1961 p.V654D 0.43 NULL NULL - no_errors UHRF1BP1 54887 genome.wustl.edu 36 6 34939818 34939818 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 34939818 34939818 C A SNP UHRF1BP1 NM_017754 human genbank 54_36p 1 validated missense c.3277 p.L1093I 1 NULL NULL - no_errors IRF4 3662 genome.wustl.edu 36 6 350067 350067 + Silent SNP G A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 350067 350067 G A SNP IRF4 NM_002460 human genbank 54_36p 1 validated silent c.1149 p.V383 1 "superfamily_SMAD/FHA domain,HMMPfam_IRF-3" "HMMSmart_SM00348,superfamily_Winged helix DNA-binding domain,HMMPfam_IRF,PatternScan_IRF,superfamily_SMAD/FHA domain,HMMPfam_IRF-3" - no_errors ANKS1A 23294 genome.wustl.edu 36 6 35093620 35093620 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35093620 35093620 C T SNP ANKS1A NM_015245 human genbank 54_36p 1 validated nonsense c.1816 p.R606* 1 NULL "HMMPfam_Ank,superfamily_ANK,HMMSmart_ANK,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" - no_errors TCP11 6954 genome.wustl.edu 36 6 35194074 35194074 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35194074 35194074 T G SNP TCP11 NM_001093728 human genbank 54_36p -1 validated missense c.1501 p.T501P 0.45 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors TCP11 6954 genome.wustl.edu 36 6 35196035 35196035 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35196035 35196035 C A SNP TCP11 NM_001093728 human genbank 54_36p -1 validated missense c.1033 p.V345F 0.03 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors PPARD 5467 genome.wustl.edu 36 6 35500315 35500315 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35500315 35500315 C T SNP PPARD NM_006238 human genbank 54_36p 1 reviewed missense c.859 p.H287Y 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors FANCE 2178 genome.wustl.edu 36 6 35531959 35531959 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35531959 35531959 C T SNP FANCE NM_021922 human genbank 54_36p 1 reviewed missense c.706 p.H236Y 0 NULL NULL - no_errors TULP1 7287 genome.wustl.edu 36 6 35585497 35585497 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35585497 35585497 C G SNP TULP1 NM_003322 human genbank 54_36p -1 reviewed missense c.610 p.E204Q 0.9 NULL "superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2" - no_errors FKBP5 2289 genome.wustl.edu 36 6 35712908 35712908 + Silent SNP G G C novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35712908 35712908 G C SNP FKBP5 NM_004117 human genbank 54_36p -1 validated silent c.111 p.V37 1 superfamily_FKBP-like "superfamily_FKBP-like,HMMPfam_FKBP_C,superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors C6orf81 221481 genome.wustl.edu 36 6 35823062 35823062 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35823062 35823062 C T SNP C6orf81 NM_145028 human genbank 54_36p 1 predicted missense c.572 p.T191M 0.23 "HMMPfam_DUF634,superfamily_ARM-type_fold" "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors SRPK1 6732 genome.wustl.edu 36 6 35945246 35945246 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 35945246 35945246 C T SNP SRPK1 NM_003137 human genbank 54_36p -1 reviewed missense c.1402 p.D468N 0.96 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SLC26A8 116369 genome.wustl.edu 36 6 36019678 36019678 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36019678 36019678 C T SNP SLC26A8 NM_052961 human genbank 54_36p -1 reviewed missense c.2890 p.G964S 0 NULL "HMMPfam_Sulfate_transp,HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa" - no_errors C6orf222 389384 genome.wustl.edu 36 6 36405842 36405842 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36405842 36405842 G C SNP C6orf222 NM_001010903 human genbank 54_36p -1 predicted missense c.604 p.R202G 0 NULL NULL - no_errors ETV7 51513 genome.wustl.edu 36 6 36451665 36451665 + Missense_Mutation SNP G T T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36451665 36451665 G T SNP ETV7 NM_016135 human genbank 54_36p -1 provisional missense c.268 p.L90I 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00251,HMMPfam_SAM_PNT" "superfamily_SAM/Pointed domain,HMMSmart_SM00251,HMMPfam_SAM_PNT,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2" - no_errors STK38 11329 genome.wustl.edu 36 6 36574132 36574132 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36574132 36574132 C A SNP STK38 NM_007271 human genbank 54_36p -1 provisional missense c.1062 p.K354N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C" - no_errors STK38 11329 genome.wustl.edu 36 6 36574199 36574199 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36574199 36574199 T G SNP STK38 NM_007271 human genbank 54_36p -1 provisional missense c.995 p.K332T 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00133,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors CDKN1A 1026 genome.wustl.edu 36 6 36760275 36760275 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36760275 36760275 G A SNP CDKN1A NM_000389 human genbank 54_36p 1 reviewed missense c.419 p.R140Q 0.94 NULL HMMPfam_CDI - no_errors PPIL1 51645 genome.wustl.edu 36 6 36950519 36950519 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36950519 36950519 G A SNP PPIL1 NM_016059 human genbank 54_36p -1 reviewed missense c.8 p.A3V 0.95 NULL "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors C6orf89 221477 genome.wustl.edu 36 6 36995331 36995331 + Splice_Site SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 36995331 36995331 G A SNP C6orf89 NM_152734 human genbank 54_36p 1 validated splice_site c.847-1 e7-1 1 - - - no_errors ZFAND3 60685 genome.wustl.edu 36 6 38192432 38192432 + Silent SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 38192432 38192432 G T SNP ZFAND3 NM_021943 human genbank 54_36p 1 validated silent c.468 p.R156 0.98 NULL HMMPfam_zf-AN1 - no_errors DNAH8 1769 genome.wustl.edu 36 6 38985289 38985289 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 38985289 38985289 T C SNP DNAH8 NM_001371 human genbank 54_36p 1 validated silent c.8880 p.R2960 0.5 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH8 1769 genome.wustl.edu 36 6 39106034 39106034 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 39106034 39106034 A T SNP DNAH8 NM_001371 human genbank 54_36p 1 validated missense c.13361 p.K4454M 1 HMMPfam_Dynein_heavy "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KCNK16 83795 genome.wustl.edu 36 6 39390828 39390828 + Silent SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 39390828 39390828 G C SNP KCNK16 NM_032115 human genbank 54_36p -1 reviewed silent c.858 p.G286 0 NULL "superfamily_SSF81324,HMMPfam_Ion_trans_2" - no_errors KCNK16 83795 genome.wustl.edu 36 6 39393578 39393578 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 39393578 39393578 C T SNP KCNK16 NM_032115 human genbank 54_36p -1 reviewed missense c.457 p.A153T 0 superfamily_SSF81324 "HMMPfam_Ion_trans_2,superfamily_SSF81324" - no_errors PRPF4B 8899 genome.wustl.edu 36 6 3977297 3977297 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 3977297 3977297 C T SNP PRPF4B NM_003913 human genbank 54_36p 1 reviewed nonsense c.547 p.R183* 0.99 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors DAAM2 23500 genome.wustl.edu 36 6 39943353 39943364 + In_Frame_Del DEL TCCACACCTCAC TCCACACCTCAC - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 TCCACACCTCAC TCCACACCTCAC TCCACACCTCAC - TCCACACCTCAC TCCACACCTCAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 39943353 39943364 TCCACACCTCAC - DEL DAAM2 NM_015345 human genbank 54_36p 1 validated in_frame_del c.518_529 p.HTSL174in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:0.999:1.000:0.997:0.998 HMMPfam_Drf_GBD "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "(deletion:cds_exon[39943264,39943597])" no_errors C6orf146 222826 genome.wustl.edu 36 6 4015002 4015002 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 4015002 4015002 G A SNP C6orf146 NM_173563 human genbank 54_36p -1 predicted missense c.454 p.P152S 1 NULL NULL - no_errors LRFN2 57497 genome.wustl.edu 36 6 40467667 40467667 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 40467667 40467667 G A SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional missense c.2363 p.T788M 1 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors LRFN2 57497 genome.wustl.edu 36 6 40468280 40468280 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 40468280 40468280 G C SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional missense c.1750 p.P584A 0.06 NULL "HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors TREML2 79865 genome.wustl.edu 36 6 41276717 41276717 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 41276717 41276717 G A SNP TREML2 NM_024807 human genbank 54_36p -1 validated missense c.185 p.P62L 0.07 NULL "superfamily_Immunoglobulin,HMMPfam_V-set" - no_errors TRERF1 55809 genome.wustl.edu 36 6 42304171 42304171 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 42304171 42304171 C T SNP TRERF1 NM_033502 human genbank 54_36p -1 reviewed missense c.3493 p.D1165N 0.96 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors TRERF1 55809 genome.wustl.edu 36 6 42304174 42304174 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 42304174 42304174 C T SNP TRERF1 NM_033502 human genbank 54_36p -1 reviewed missense c.3490 p.D1164N 0.11 NULL "HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors UBR2 23304 genome.wustl.edu 36 6 42681509 42681509 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 42681509 42681509 T C SNP UBR2 NM_015255 human genbank 54_36p 1 provisional silent c.735 p.T245 0.99 "superfamily_ClpS-like,HMMPfam_ClpS" "PatternScan_LIPOCALIN,HMMPfam_zf-UBR,HMMSmart_SM00396,superfamily_ClpS-like,HMMPfam_ClpS,PatternScan_RCC1_2" - no_errors PRPH2 5961 genome.wustl.edu 36 6 42780284 42780284 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 42780284 42780284 C T SNP PRPH2 NM_000322 human genbank 54_36p -1 reviewed missense c.625 p.V209I 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" - no_errors PRPH2 5961 genome.wustl.edu 36 6 42797997 42797997 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 42797997 42797997 T A SNP PRPH2 NM_000322 human genbank 54_36p -1 reviewed missense c.54 p.Q18H 1 HMMPfam_Tetraspannin "superfamily_Tetraspanin,PatternScan_RDS_ROM1,HMMPfam_Tetraspannin" - no_errors PTCRA 171558 genome.wustl.edu 36 6 42998844 42998844 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 42998844 42998844 C A SNP PTCRA NM_138296 human genbank 54_36p 1 validated missense c.160 p.P54T 0.02 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors PEX6 5190 genome.wustl.edu 36 6 43042245 43042245 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 43042245 43042245 G A SNP PEX6 NM_000287 human genbank 54_36p -1 reviewed missense c.2090 p.P697L 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors CUL7 9820 genome.wustl.edu 36 6 43127973 43127973 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 43127973 43127973 G A SNP CUL7 NM_014780 human genbank 54_36p -1 validated missense c.532 p.R178C 0.97 NULL "PatternScan_CULLIN_1,superfamily_Gal_bind_like,HMMPfam_APC10,HMMPfam_Cullin,superfamily_Cullin_homology,superfamily_SSF46785" - no_errors SRF 6722 genome.wustl.edu 36 6 43252280 43252280 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 43252280 43252280 G T SNP SRF NM_003131 human genbank 54_36p 1 reviewed missense c.1059 p.Q353H 1 NULL "superfamily_TF_MADSbox,HMMSmart_MADS,PatternScan_MADS_BOX_1,HMMPfam_SRF-TF" - no_errors ABCC10 89845 genome.wustl.edu 36 6 43508756 43508756 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 43508756 43508756 C T SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed nonsense c.931 p.Q311* 0.97 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane" "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC10 89845 genome.wustl.edu 36 6 43524900 43524900 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 43524900 43524900 G T SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed missense c.4099 p.A1367S 1 "HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors SLC35B2 347734 genome.wustl.edu 36 6 44332572 44332572 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 44332572 44332572 C T SNP SLC35B2 NM_178148 human genbank 54_36p -1 validated silent c.33 p.L11 0.94 NULL "HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE,PatternScan_COPPER_BLUE" - no_errors CDC5L 988 genome.wustl.edu 36 6 44502419 44502419 + Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T - T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 44502419 44502419 T - DEL CDC5L NM_001253 human genbank 54_36p 1 reviewed frame_shift_del c.1873 p.S625fs 1 NULL "superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" "(deletion:cds_exon[44502197,44502439])" no_errors CLIC5 53405 genome.wustl.edu 36 6 45978899 45978899 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 45978899 45978899 G A SNP CLIC5 NM_016929 human genbank 54_36p -1 validated silent c.660 p.N220 0.97 superfamily_Glutathione S-transferase (GST) C-terminal domain "superfamily_Thioredoxin-like,superfamily_Glutathione S-transferase (GST) C-terminal domain" - no_errors ENPP4 22875 genome.wustl.edu 36 6 46215774 46215774 + Silent SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 46215774 46215774 T C SNP ENPP4 NM_014936 human genbank 54_36p 1 validated silent c.495 p.N165 0.22 "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" - no_errors LOC442153 442153 genome.wustl.edu 36 6 4648032 4648032 + RNA SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 4648032 4648032 A G SNP LOC442153 XR_016425 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC442153 442153 genome.wustl.edu 36 6 4648250 4648250 + RNA SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 4648250 4648250 G A SNP LOC442153 XR_016425 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene TDRD6 221400 genome.wustl.edu 36 6 46766750 46766750 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 46766750 46766750 T C SNP TDRD6 NM_001010870 human genbank 54_36p 1 provisional missense c.2926 p.F976L 1 NULL "HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748" - no_errors CD2AP 23607 genome.wustl.edu 36 6 47681952 47681952 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 47681952 47681952 C T SNP CD2AP NM_012120 human genbank 54_36p 1 reviewed missense c.1510 p.R504C 1 NULL "HMMSmart_SH3,HMMPfam_SH3_1,superfamily_SH3" - no_errors GPR115 221393 genome.wustl.edu 36 6 47790130 47790130 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 47790130 47790130 C T SNP GPR115 NM_153838 human genbank 54_36p 1 validated missense c.1190 p.T397I 0 NULL HMMPfam_7tm_2 - no_errors OPN5 221391 genome.wustl.edu 36 6 47871259 47871259 + Splice_Site SNP G G C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 47871259 47871259 G C SNP OPN5 NM_181744 human genbank 54_36p 1 reviewed splice_site c.756+1 e4+1 1 - - - no_errors RPP40 10799 genome.wustl.edu 36 6 4944007 4944007 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 4944007 4944007 C T SNP RPP40 NM_006638 human genbank 54_36p -1 validated nonsense c.501 p.W167* 1 HMMPfam_Ribonuc_P_40 HMMPfam_Ribonuc_P_40 - no_errors CENPQ 55166 genome.wustl.edu 36 6 49547843 49547843 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 49547843 49547843 A G SNP CENPQ NM_018132 human genbank 54_36p 1 validated missense c.266 p.E89G 0.98 NULL NULL - no_errors RHAG 6005 genome.wustl.edu 36 6 49690520 49690521 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 49690520 49690521 GA TT DNP RHAG NM_000324 human genbank 54_36p -1 reviewed missense c.646_645 p.L216I 0.988:0.693 "HMMPfam_Ammonium_transp,superfamily_RH_like_transpt" "HMMPfam_Ammonium_transp,superfamily_RH_like_transpt" - no_errors DEFB114 245928 genome.wustl.edu 36 6 50036110 50036110 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 50036110 50036110 T A SNP DEFB114 NM_001037499 human genbank 54_36p -1 provisional missense c.64 p.T22S 0 NULL HMMPfam_Defensin_beta - no_errors TFAP2D 83741 genome.wustl.edu 36 6 50790800 50790800 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 50790800 50790800 G A SNP TFAP2D NM_172238 human genbank 54_36p 1 validated missense c.52 p.G18R 1 NULL HMMPfam_TF_AP-2 - no_errors TFAP2D 83741 genome.wustl.edu 36 6 50848417 50848417 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 50848417 50848417 A T SNP TFAP2D NM_172238 human genbank 54_36p 1 validated missense c.1240 p.T414S 0.95 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors PKHD1 5314 genome.wustl.edu 36 6 51591933 51591933 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 51591933 51591933 A C SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.12130 p.L4044V 0 NULL "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00710,HMMPfam_G8,superfamily_Pectin lyase-like" - no_errors PKHD1 5314 genome.wustl.edu 36 6 51840792 51840792 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 51840792 51840792 C A SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.7561 p.A2521S 1 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors PKHD1 5314 genome.wustl.edu 36 6 51990356 51990356 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 6 51990356 51990356 C T SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.5411 p.R1804H 0 superfamily_E set domains "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors PKHD1 5314 genome.wustl.edu 36 6 51998297 51998297 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 51998297 51998297 C G SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.4270 p.D1424H 0 "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors PKHD1 5314 genome.wustl.edu 36 6 51998397 51998397 + Silent SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 51998397 51998397 C A SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed silent c.4170 p.R1390 0.27 "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors PKHD1 5314 genome.wustl.edu 36 6 52017815 52017815 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 52017815 52017815 G C SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.2623 p.P875A 0.28 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors PKHD1 5314 genome.wustl.edu 36 6 52025839 52025839 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 52025839 52025839 C G SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.2134 p.V712L 0.71 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors EFHC1 114327 genome.wustl.edu 36 6 52425561 52425561 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 52425561 52425561 T A SNP EFHC1 NM_018100 human genbank 54_36p 1 validated missense c.690 p.D230E 1 NULL "HMMSmart_SM00676,HMMPfam_DUF1126,superfamily_EF-hand,HMMPfam_efhand" - no_errors GSTA1 2938 genome.wustl.edu 36 6 52765729 52765729 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 52765729 52765729 C G SNP GSTA1 NM_145740 human genbank 54_36p -1 reviewed missense c.430 p.G144R 1 "superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C" "superfamily_Thioredoxin-like,HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C" - no_errors ICK 22858 genome.wustl.edu 36 6 52986476 52986476 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 52986476 52986476 C A SNP ICK NM_014920 human genbank 54_36p -1 reviewed missense c.1095 p.Q365H 0.06 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors LRRC1 55227 genome.wustl.edu 36 6 53851816 53851816 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 53851816 53851816 A T SNP LRRC1 NM_018214 human genbank 54_36p 1 validated missense c.344 p.N115I 1 "superfamily_L domain-like,HMMSmart_SM00364" "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors C6orf142 90523 genome.wustl.edu 36 6 54097351 54097351 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 54097351 54097351 A G SNP C6orf142 NM_138569 human genbank 54_36p 1 validated missense c.341 p.N114S 0 NULL NULL - no_errors C6orf142 90523 genome.wustl.edu 36 6 54203568 54203568 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 54203568 54203568 C T SNP C6orf142 NM_138569 human genbank 54_36p 1 validated missense c.1211 p.S404L 0.01 NULL NULL - no_errors C6orf142 90523 genome.wustl.edu 36 6 54230083 54230083 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 54230083 54230083 G A SNP C6orf142 NM_138569 human genbank 54_36p 1 validated missense c.1336 p.A446T 1 NULL NULL - no_errors HCRTR2 3062 genome.wustl.edu 36 6 55227992 55227992 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 55227992 55227992 C T SNP HCRTR2 NM_001526 human genbank 54_36p 1 reviewed missense c.502 p.R168W 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Orexin_rec2" - no_errors HCRTR2 3062 genome.wustl.edu 36 6 55228105 55228105 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 55228105 55228105 C A SNP HCRTR2 NM_001526 human genbank 54_36p 1 reviewed silent c.615 p.T205 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Orexin_rec2,superfamily_SSF81321" - no_errors HMGCLL1 54511 genome.wustl.edu 36 6 55486876 55486876 + Silent SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 55486876 55486876 G T SNP HMGCLL1 NM_019036 human genbank 54_36p -1 validated silent c.561 p.S187 0.99 "superfamily_Aldolase,HMMPfam_HMGL-like" "superfamily_Aldolase,HMMPfam_HMGL-like" - no_errors COL21A1 81578 genome.wustl.edu 36 6 56143847 56143847 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6 56143847 56143847 C T SNP COL21A1 NM_030820 human genbank 54_36p -1 reviewed missense c.679 p.D227N 1 NULL "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,HMMPfam_Collagen" - no_errors COL21A1 81578 genome.wustl.edu 36 6 56152449 56152449 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56152449 56152449 C T SNP COL21A1 NM_030820 human genbank 54_36p -1 reviewed missense c.526 p.D176N 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_vWA-like" - no_errors DST 667 genome.wustl.edu 36 6 56437496 56437496 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56437496 56437496 T A SNP DST ENST00000370769 human ensembl 54_36p -1 known nonsense c.21997 p.K7333* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DST 667 genome.wustl.edu 36 6 56465184 56465184 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56465184 56465184 C T SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.13666 p.A4556T 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors DST 667 genome.wustl.edu 36 6 56525723 56525723 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56525723 56525723 T C SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.8935 p.K2979E 1 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors DST 667 genome.wustl.edu 36 6 56574323 56574323 + Silent SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56574323 56574323 T C SNP DST ENST00000370769 human ensembl 54_36p -1 known silent c.10791 p.K3597 0.98 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors DST 667 genome.wustl.edu 36 6 56577184 56577184 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56577184 56577184 C T SNP DST NM_020388 human genbank 54_36p -1 reviewed missense c.8590 p.E2864K 0 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,HMMPfam_Spectrin,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin,PatternScan_RIBOSOMAL_L23" - no_errors DST 667 genome.wustl.edu 36 6 56589822 56589822 + Silent SNP C C T novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56589822 56589822 C T SNP DST NM_001723 human genbank 54_36p -1 reviewed silent c.6402 p.T2134 0.74 "superfamily_SSF75399,HMMSmart_PLEC" "HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin" - no_errors DST 667 genome.wustl.edu 36 6 56605739 56605739 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56605739 56605739 C T SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.3044 p.R1015H 1 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors DST 667 genome.wustl.edu 36 6 56607639 56607639 + Silent SNP A A T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56607639 56607639 A T SNP DST NM_183380 human genbank 54_36p -1 reviewed silent c.2625 p.I875 1 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors DST 667 genome.wustl.edu 36 6 56614797 56614797 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 56614797 56614797 A G SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.1301 p.I434T 1 NULL ############################################################################################################################################################################################################################################################### - no_errors EXOC2 55770 genome.wustl.edu 36 6 578067 578067 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 578067 578067 C A SNP EXOC2 NM_018303 human genbank 54_36p -1 reviewed missense c.169 p.A57S 1 "superfamily_Ig_E-set,HMMPfam_TIG" "superfamily_Ig_E-set,HMMPfam_TIG" - no_errors LOC727842 727842 genome.wustl.edu 36 6 58554097 58554097 + RNA SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 58554097 58554097 G T SNP LOC727842 XR_015140 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC727842 727842 genome.wustl.edu 36 6 58554168 58554168 + RNA SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 58554168 58554168 G C SNP LOC727842 XR_015140 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PHF3 23469 genome.wustl.edu 36 6 64447911 64447911 + Missense_Mutation SNP A G G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 64447911 64447911 A G SNP PHF3 NM_015153 human genbank 54_36p 1 provisional missense c.296 p.N99S 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC" - no_errors BAI3 577 genome.wustl.edu 36 6 69741948 69741948 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 69741948 69741948 C G SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.1729 p.H577D 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 577 genome.wustl.edu 36 6 69829627 69829627 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 69829627 69829627 T C SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.2414 p.I805T 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 577 genome.wustl.edu 36 6 70097117 70097117 + Splice_Site SNP A A T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 70097117 70097117 A T SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed splice_site c.3036-2 e21-2 1 - - - no_errors LMBRD1 55788 genome.wustl.edu 36 6 70464211 70464211 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 70464211 70464211 G A SNP LMBRD1 NM_018368 human genbank 54_36p -1 provisional missense c.1382 p.S461F 0.17 HMMPfam_LMBR1 HMMPfam_LMBR1 - no_errors COL19A1 1310 genome.wustl.edu 36 6 70790257 70790257 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 70790257 70790257 A T SNP COL19A1 NM_001858 human genbank 54_36p 1 reviewed missense c.1044 p.K348N 1 HMMPfam_Collagen "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen" - no_errors COL19A1 1310 genome.wustl.edu 36 6 70938599 70938599 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 70938599 70938599 T G SNP COL19A1 NM_001858 human genbank 54_36p 1 reviewed missense c.2591 p.L864W 0.98 HMMPfam_Collagen "HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl" - no_errors COL9A1 1297 genome.wustl.edu 36 6 70999156 70999180 + Frame_Shift_Del DEL TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA - TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 70999156 70999180 TCTGGACGCTTAAGACTGGCAGCCA - DEL COL9A1 NM_001851 human genbank 54_36p -1 reviewed frame_shift_del c.2354_2330 p.M777fs 1.000:1.000:0.960:1.000:1.000:0.998:1.000:0.999:0.997:0.990:0.905:0.860:0.999:1.000:0.999:1.000:1.000:0.994:1.000:1.000:0.987:1.000:1.000:1.000:1.000 NULL "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen" "(deletion:cds_exon[70999007,70999195])" no_errors COL9A1 1297 genome.wustl.edu 36 6 71068485 71068485 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 71068485 71068485 A T SNP COL9A1 NM_001851 human genbank 54_36p -1 reviewed missense c.28 p.F10I 1 NULL "HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl" - no_errors RREB1 6239 genome.wustl.edu 36 6 7175676 7175676 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 7175676 7175676 G T SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.2345 p.G782V 0.55 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors RREB1 6239 genome.wustl.edu 36 6 7176750 7176750 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 7176750 7176750 C T SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.3419 p.S1140F 0.85 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors RREB1 6239 genome.wustl.edu 36 6 7193751 7193751 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 7193751 7193751 C G SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.4780 p.P1594A 1 superfamily_SSF57667 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors RIMS1 22999 genome.wustl.edu 36 6 72735448 72735448 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 72735448 72735448 C G SNP RIMS1 NM_014989 human genbank 54_36p 1 validated missense c.206 p.T69R 1 superfamily_FYVE/PHD zinc finger "superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 genome.wustl.edu 36 6 73025449 73025449 + Silent SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73025449 73025449 T C SNP RIMS1 NM_014989 human genbank 54_36p 1 validated silent c.2967 p.S989 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 genome.wustl.edu 36 6 73031872 73031872 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73031872 73031872 C A SNP RIMS1 NM_014989 human genbank 54_36p 1 validated missense c.3253 p.H1085N 0.38 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 genome.wustl.edu 36 6 73032412 73032412 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73032412 73032412 A T SNP RIMS1 NM_014989 human genbank 54_36p 1 validated missense c.3337 p.R1113W 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 genome.wustl.edu 36 6 73040845 73040845 + Silent SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73040845 73040845 G A SNP RIMS1 NM_014989 human genbank 54_36p 1 validated silent c.3471 p.P1157 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors CAGE1 285782 genome.wustl.edu 36 6 7318748 7318748 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 7318748 7318748 C A SNP CAGE1 NM_205864 human genbank 54_36p -1 validated missense c.895 p.V299L 0 NULL NULL - no_errors RIOK1 83732 genome.wustl.edu 36 6 7359603 7359603 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 7359603 7359603 A G SNP RIOK1 NM_031480 human genbank 54_36p 1 reviewed missense c.1577 p.D526G 0.02 NULL "HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1,PatternScan_RIO1" - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73844239 73844239 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73844239 73844239 G A SNP KCNQ5 NM_019842 human genbank 54_36p 1 reviewed missense c.826 p.V276I 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73877773 73877773 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73877773 73877773 G C SNP KCNQ5 NM_019842 human genbank 54_36p 1 reviewed missense c.1051 p.A351P 1 superfamily_Voltage-gated potassium channels "HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_Voltage-gated potassium channels" - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73961051 73961051 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 73961051 73961051 A T SNP KCNQ5 NM_019842 human genbank 54_36p 1 reviewed missense c.1992 p.K664N 1 NULL "HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_Voltage-gated potassium channels" - no_errors MTO1 25821 genome.wustl.edu 36 6 74240007 74240007 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 74240007 74240007 A G SNP MTO1 NM_133645 human genbank 54_36p 1 reviewed missense c.734 p.K245R 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GIDA" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GIDA,PatternScan_GIDA_1,PatternScan_GIDA_2" - no_errors CD109 135228 genome.wustl.edu 36 6 74574673 74574673 + Silent SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 74574673 74574673 T G SNP CD109 NM_133493 human genbank 54_36p 1 validated silent c.3336 p.T1112 0 "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp" "HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep" - no_errors DSP 1832 genome.wustl.edu 36 6 7504456 7504456 + Splice_Site SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 7504456 7504456 A G SNP DSP NM_004415 human genbank 54_36p 1 reviewed splice_site c.423-2 e4-2 0.95 - - - no_errors COL12A1 1303 genome.wustl.edu 36 6 75900411 75900411 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 75900411 75900411 G C SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed missense c.5547 p.N1849K 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00210,HMMPfam_Collagen" - no_errors COL12A1 1303 genome.wustl.edu 36 6 75949716 75949716 + Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 75949716 75949716 G C SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed nonsense c.1661 p.S554* 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors SENP6 26054 genome.wustl.edu 36 6 76429850 76429850 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 76429850 76429850 C G SNP SENP6 NM_015571 human genbank 54_36p 1 validated missense c.890 p.T297S 0.66 NULL "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48" - no_errors TTK 7272 genome.wustl.edu 36 6 80777897 80777897 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 80777897 80777897 C G SNP TTK NM_003318 human genbank 54_36p 1 provisional nonsense c.641 p.S214* 0.9 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors LOC643562 643562 genome.wustl.edu 36 6 80834737 80834737 + RNA SNP A A C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 80834737 80834737 A C SNP LOC643562 XR_016539 human genbank 54_36p -1 model rna NULL NULL 0.04 - - - pseudogene ME1 4199 genome.wustl.edu 36 6 83983022 83983022 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 83983022 83983022 G T SNP ME1 NM_002395 human genbank 54_36p -1 reviewed missense c.1462 p.Q488K 0.99 "HMMPfam_Malic_M,superfamily_NAD(P)-bd" "superfamily_SSF53223,HMMPfam_malic,PatternScan_MALIC_ENZYMES,HMMPfam_Malic_M,superfamily_NAD(P)-bd" - no_errors SNAP91 9892 genome.wustl.edu 36 6 84327316 84327316 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 84327316 84327316 C A SNP SNAP91 NM_014841 human genbank 54_36p -1 validated missense c.2512 p.A838S 0.97 NULL "superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_GAT-like domain" - no_errors KIAA1009 22832 genome.wustl.edu 36 6 84961443 84961443 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 84961443 84961443 G C SNP KIAA1009 NM_014895 human genbank 54_36p -1 validated nonsense c.905 p.S302* 1 NULL NULL - no_errors NT5E 4907 genome.wustl.edu 36 6 86251818 86251818 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 86251818 86251818 G A SNP NT5E NM_002526 human genbank 54_36p 1 validated missense c.898 p.V300I 1 superfamily_SSF56300 "superfamily_SSF56300,PatternScan_5_NUCLEOTIDASE_1,HMMPfam_Metallophos,PatternScan_5_NUCLEOTIDASE_2,HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C" - no_errors NT5E 4907 genome.wustl.edu 36 6 86253849 86253849 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 86253849 86253849 A G SNP NT5E NM_002526 human genbank 54_36p 1 validated missense c.1027 p.I343V 0.03 "HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C" "HMMPfam_Metallophos,PatternScan_5_NUCLEOTIDASE_1,PatternScan_5_NUCLEOTIDASE_2,HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C,superfamily_SSF56300" - no_errors SYNCRIP 10492 genome.wustl.edu 36 6 86381481 86381481 + Silent SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 86381481 86381481 A C SNP SYNCRIP NM_006372 human genbank 54_36p -1 provisional silent c.1584 p.G528 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ZNF292 23036 genome.wustl.edu 36 6 88028184 88028184 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 88028184 88028184 G T SNP ZNF292 NM_015021 human genbank 54_36p 1 validated missense c.8118 p.M2706I 0.05 NULL "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RRAGD 58528 genome.wustl.edu 36 6 90145745 90145745 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 90145745 90145745 T C SNP RRAGD NM_021244 human genbank 54_36p -1 validated missense c.676 p.I226V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Gtr1_RagA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Gtr1_RagA" - no_errors MDN1 23195 genome.wustl.edu 36 6 90428566 90428566 + Silent SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 90428566 90428566 A G SNP MDN1 NM_014611 human genbank 54_36p -1 provisional silent c.14526 p.G4842 0.96 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327" - no_errors MDN1 23195 genome.wustl.edu 36 6 90466042 90466042 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 90466042 90466042 T A SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.8996 p.K2999M 0.11 NULL "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors MDN1 23195 genome.wustl.edu 36 6 90479147 90479147 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 90479147 90479147 C A SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.7298 p.G2433V 1 NULL "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors BACH2 60468 genome.wustl.edu 36 6 90698884 90698884 + Silent SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 90698884 90698884 A G SNP BACH2 NM_021813 human genbank 54_36p -1 validated silent c.2490 p.C830 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_Euk_transcr_DNA,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors MAP3K7 6885 genome.wustl.edu 36 6 91314573 91314573 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 91314573 91314573 C T SNP MAP3K7 NM_145331 human genbank 54_36p -1 reviewed missense c.994 p.D332N 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors EPHA7 2045 genome.wustl.edu 36 6 94177476 94177476 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 94177476 94177476 A G SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.296 p.F99S 1 "superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615" ############################################################################################################################################################################################################################################################### - no_errors MANEA 79694 genome.wustl.edu 36 6 96141209 96141209 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 96141209 96141209 A T SNP MANEA NM_024641 human genbank 54_36p 1 validated missense c.173 p.N58I 0 NULL NULL - no_errors KLHL32 114792 genome.wustl.edu 36 6 97639767 97639767 + Silent SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 97639767 97639767 C T SNP KLHL32 NM_052904 human genbank 54_36p 1 validated silent c.456 p.D152 1 HMMPfam_BACK "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors KLHL32 114792 genome.wustl.edu 36 6 97693779 97693779 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 97693779 97693779 C T SNP KLHL32 NM_052904 human genbank 54_36p 1 validated missense c.1763 p.A588V 1 NULL "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors C6orf167 253714 genome.wustl.edu 36 6 97727664 97727664 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 97727664 97727664 C G SNP C6orf167 NM_198468 human genbank 54_36p -1 predicted missense c.2835 p.M945I 1 NULL NULL - no_errors SFRS18 25957 genome.wustl.edu 36 6 99963796 99963796 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6 99963796 99963796 G - DEL SFRS18 NM_015491 human genbank 54_36p -1 validated frame_shift_del c.647 p.P216fs 1 NULL NULL "(deletion:cds_exon[99963770,99963941])" no_errors ENSG00000166104 0 genome.wustl.edu 36 15 60326813 60326813 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60326813 60326813 C T SNP ENSG00000166104 ENST00000299125 human ensembl 54_36p -1 known missense c.251 p.R84Q 0.09 NULL NULL - no_start_codon OR52L2P 79274 genome.wustl.edu 36 11 6035139 6035139 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6035139 6035139 G A SNP OR52L2P ENST00000316540 human ensembl 54_36p -1 known nonsense c.943 p.Q315* 0.01 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ENSG00000180913 0 genome.wustl.edu 36 11 6106850 6106850 + Silent SNP A A T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6106850 6106850 A T SNP ENSG00000180913 ENST00000316517 human ensembl 54_36p 1 known silent c.435 p.T145 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors ENSG00000180909 0 genome.wustl.edu 36 11 6130098 6130098 + Silent SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6130098 6130098 G A SNP ENSG00000180909 ENST00000316506 human ensembl 54_36p -1 known silent c.297 p.H99 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors LOC100129067 100129067 genome.wustl.edu 36 11 61855199 61855199 + RNA SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61855199 61855199 A T SNP LOC100129067 XR_038268 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC100129141 100129141 genome.wustl.edu 36 2 62613373 62613373 + RNA SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 62613373 62613373 C A SNP LOC100129141 XR_039484 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC100129293 100129293 genome.wustl.edu 36 7 63668086 63668086 + RNA SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 63668086 63668086 G T SNP LOC100129293 XR_038218 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC100130721 100130721 genome.wustl.edu 36 7 64437805 64437805 + RNA SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 64437805 64437805 C G SNP LOC100130721 XR_037257 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC643827 643827 genome.wustl.edu 36 9 65334887 65334887 + Splice_Site SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 65334887 65334887 G A SNP LOC643827 XM_001714537 human genbank 54_36p 1 model splice_site c.836-1 e5-1 1 - - - no_errors LOC100129267 100129267 genome.wustl.edu 36 10 65600387 65600387 + RNA SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 65600387 65600387 T C SNP LOC100129267 XR_037245 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene LOC100132467 100132467 genome.wustl.edu 36 9 6660198 6660198 + RNA SNP G T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 6660198 6660198 G T SNP LOC100132467 XR_039339 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC441442 441442 genome.wustl.edu 36 9 67847665 67847665 + RNA SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 67847665 67847665 G T SNP LOC441442 XR_037084 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC441442 441442 genome.wustl.edu 36 9 67848175 67848175 + RNA SNP G G T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 67848175 67848175 G T SNP LOC441442 XR_037084 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene ENSG00000214552 0 genome.wustl.edu 36 3 68276961 68276961 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 68276961 68276961 C T SNP ENSG00000214552 ENST00000398570 human ensembl 54_36p 1 known missense c.118 p.R40C 0.3 HMMPfam_PCI_Csn8 HMMPfam_PCI_Csn8 - no_errors LOC100132437 100132437 genome.wustl.edu 36 9 68357723 68357723 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 68357723 68357723 A G SNP LOC100132437 XM_001720808 human genbank 54_36p 1 model missense c.193 p.M65V 1 NULL NULL - no_errors LRCH4 4034 genome.wustl.edu 36 7 100011832 100011832 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100011832 100011832 G T SNP LRCH4 NM_002319 human genbank 54_36p -1 reviewed missense c.1603 p.P535T 0 HMMPfam_CH "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH" - no_errors FBXO24 26261 genome.wustl.edu 36 7 100025873 100025873 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100025873 100025873 G C SNP FBXO24 NM_033506 human genbank 54_36p 1 reviewed missense c.279 p.Q93H 1 superfamily_F-box domain "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RCC1/BLIP-II" - no_errors GNB2 2783 genome.wustl.edu 36 7 100113090 100113090 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100113090 100113090 A G SNP GNB2 NM_005273 human genbank 54_36p 1 reviewed missense c.301 p.M101V 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors GNB2 2783 genome.wustl.edu 36 7 100113091 100113091 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100113091 100113091 T C SNP GNB2 NM_005273 human genbank 54_36p 1 reviewed missense c.302 p.M101T 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors ZAN 7455 genome.wustl.edu 36 7 100190916 100190916 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100190916 100190916 C A SNP ZAN ENST00000349350 human ensembl 54_36p 1 known missense c.3256 p.H1086N 0 "superfamily_Serine proterase inhibitors,HMMPfam_TIL,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors ZAN 7455 genome.wustl.edu 36 7 100204256 100204256 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100204256 100204256 A T SNP ZAN ENST00000349350 human ensembl 54_36p 1 known missense c.5129 p.K1710M 0.35 NULL ############################################################################################################################################################################################################################################################### - no_errors SRRT 51593 genome.wustl.edu 36 7 100323649 100323649 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100323649 100323649 C A SNP SRRT NM_015908 human genbank 54_36p 1 validated missense c.2377 p.Q793K 1 HMMPfam_ARS2 HMMPfam_ARS2 - no_errors MUC3B 57876 genome.wustl.edu 36 7 100390002 100390002 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100390002 100390002 G T SNP MUC3B ENST00000332750 human ensembl 54_36p 1 known nonsense c.1690 p.E564* 0.02 NULL "superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_start_codon MUC3B 57876 genome.wustl.edu 36 7 100390098 100390098 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100390098 100390098 C A SNP MUC3B ENST00000332750 human ensembl 54_36p 1 known missense c.1786 p.L596I 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin,superfamily_SEA domain" - no_start_codon MUC17 140453 genome.wustl.edu 36 7 100450151 100450151 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100450151 100450151 G A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.15 p.G5 0.01 NULL "superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_errors MUC17 140453 genome.wustl.edu 36 7 100463481 100463481 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 100463481 100463481 T C SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.2064 p.T688 0.01 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 genome.wustl.edu 36 7 100468311 100468311 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100468311 100468311 C A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.6894 p.T2298 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 genome.wustl.edu 36 7 100470712 100470712 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100470712 100470712 A T SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.9295 p.T3099S 0.06 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 genome.wustl.edu 36 7 100473717 100473717 + Silent SNP A A C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100473717 100473717 A C SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.12300 p.T4100 0.73 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors SERPINE1 5054 genome.wustl.edu 36 7 100560506 100560506 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100560506 100560506 C T SNP SERPINE1 NM_000602 human genbank 54_36p 1 validated missense c.356 p.A119V 1 "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN" "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors C7orf52 375607 genome.wustl.edu 36 7 100604696 100604696 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100604696 100604696 G T SNP C7orf52 NM_198571 human genbank 54_36p -1 predicted missense c.113 p.A38D 0.01 NULL superfamily_Acyl-CoA N-acyltransferases (Nat) - no_errors CLDN15 24146 genome.wustl.edu 36 7 100664359 100664359 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100664359 100664359 C T SNP CLDN15 NM_014343 human genbank 54_36p -1 provisional missense c.302 p.R101H 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors AZGP1P2 401393 genome.wustl.edu 36 7 100717601 100717601 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 100717601 100717601 A G SNP AZGP1P2 ENST00000397935 human ensembl 54_36p -1 known missense c.220 p.W74R 0.21 "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I" "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I" - no_errors MYL10 93408 genome.wustl.edu 36 7 101054248 101054248 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 101054248 101054248 C T SNP MYL10 NM_138403 human genbank 54_36p -1 validated missense c.95 p.R32Q 1 NULL "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors CUX1 1523 genome.wustl.edu 36 7 101627217 101627217 + Silent SNP T T G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 101627217 101627217 T G SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed silent c.1806 p.R602 0.19 HMMPfam_CUT "superfamily_lambda repressor-like DNA-binding domains,HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PRKRIP1 79706 genome.wustl.edu 36 7 101827053 101827053 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 101827053 101827053 C T SNP PRKRIP1 NM_024653 human genbank 54_36p 1 validated missense c.259 p.R87W 1 HMMPfam_DUF1168 HMMPfam_DUF1168 - no_errors POLR2J3 548644 genome.wustl.edu 36 7 101997426 101997426 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 101997426 101997426 C G SNP POLR2J3 NM_001097615 human genbank 54_36p -1 reviewed missense c.102 p.M34I 1 "superfamily_RNAP_RBP11-like,HMMPfam_RNA_pol_L,PatternScan_RNA_POL_L_13KD" "superfamily_RNAP_RBP11-like,HMMPfam_RNA_pol_L,PatternScan_RNA_POL_L_13KD" - no_errors LRRC17 10234 genome.wustl.edu 36 7 102367234 102367234 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 102367234 102367234 C T SNP LRRC17 NM_001031692 human genbank 54_36p 1 provisional silent c.894 p.N298 1 "superfamily_RNI-like,HMMSmart_SM00369,HMMPfam_LRR_1" "superfamily_RNI-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00082" - no_errors ARMC10 83787 genome.wustl.edu 36 7 102526015 102526015 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 102526015 102526015 C T SNP ARMC10 NM_031905 human genbank 54_36p 1 provisional missense c.811 p.H271Y 0.01 "HMMPfam_DUF634,superfamily_ARM repeat" "HMMPfam_DUF634,superfamily_ARM repeat" - no_errors PMPCB 9512 genome.wustl.edu 36 7 102735326 102735326 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 102735326 102735326 G C SNP PMPCB NM_004279 human genbank 54_36p 1 reviewed missense c.784 p.D262H 0.99 "superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16_C" "superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C" - no_errors PMPCB 9512 genome.wustl.edu 36 7 102735387 102735387 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 102735387 102735387 G C SNP PMPCB NM_004279 human genbank 54_36p 1 reviewed missense c.845 p.S282T 1 "HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd" "PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16" - no_errors RELN 5649 genome.wustl.edu 36 7 103001849 103001849 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 103001849 103001849 A C SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.4437 p.D1479E 1 NULL "HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase" - no_errors RELN 5649 genome.wustl.edu 36 7 103063216 103063216 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 103063216 103063216 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.2357 p.R786K 0.99 NULL "HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196" - no_errors RINT1 60561 genome.wustl.edu 36 7 104970272 104970272 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 104970272 104970272 T C SNP RINT1 NM_021930 human genbank 54_36p 1 validated missense c.455 p.I152T 0.95 NULL HMMPfam_RINT1_TIP1 - no_errors RINT1 60561 genome.wustl.edu 36 7 104974660 104974660 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 104974660 104974660 G T SNP RINT1 NM_021930 human genbank 54_36p 1 validated missense c.583 p.A195S 1 NULL HMMPfam_RINT1_TIP1 - no_errors PIK3CG 5294 genome.wustl.edu 36 7 106296377 106296377 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 106296377 106296377 C A SNP PIK3CG NM_002649 human genbank 54_36p 1 reviewed missense c.1135 p.L379I 1 "HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2" ############################################################################################################################################################################################################################################################### - no_errors GPR146 115330 genome.wustl.edu 36 7 1064417 1064417 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 1064417 1064417 C G SNP GPR146 NM_138445 human genbank 54_36p 1 provisional missense c.740 p.T247R 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR22 2845 genome.wustl.edu 36 7 106901798 106901798 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 106901798 106901798 G A SNP GPR22 NM_005295 human genbank 54_36p 1 reviewed silent c.57 p.V19 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors BCAP29 55973 genome.wustl.edu 36 7 107008501 107008501 + Silent SNP A A T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107008501 107008501 A T SNP BCAP29 NM_001008405 human genbank 54_36p 1 validated silent c.48 p.I16 1 HMMPfam_Bap31 HMMPfam_Bap31 - no_errors SLC26A4 5172 genome.wustl.edu 36 7 107129517 107129517 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107129517 107129517 A G SNP SLC26A4 NM_000441 human genbank 54_36p 1 reviewed missense c.1813 p.I605V 1 "superfamily_STAS,HMMPfam_STAS" "PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors SLC26A4 5172 genome.wustl.edu 36 7 107129654 107129654 + Silent SNP T T C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107129654 107129654 T C SNP SLC26A4 NM_000441 human genbank 54_36p 1 reviewed silent c.1950 p.V650 0.99 "HMMPfam_STAS,superfamily_STAS" "HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A" - no_errors SLC26A3 1811 genome.wustl.edu 36 7 107201769 107201769 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107201769 107201769 T C SNP SLC26A3 NM_000111 human genbank 54_36p -1 reviewed missense c.1839 p.I613M 0.04 "superfamily_STAS,HMMPfam_STAS" "PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors SLC26A3 1811 genome.wustl.edu 36 7 107204215 107204215 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 107204215 107204215 G T SNP SLC26A3 NM_000111 human genbank 54_36p -1 reviewed missense c.1595 p.P532Q 0.99 "HMMPfam_STAS,superfamily_STAS" "HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A" - no_errors LAMB1 3912 genome.wustl.edu 36 7 107359937 107359937 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107359937 107359937 G A SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.4310 p.A1437V 0.97 NULL "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin" - no_errors LAMB1 3912 genome.wustl.edu 36 7 107379875 107379875 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107379875 107379875 G T SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.3109 p.Q1037K 0.27 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin" "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Prefoldin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors LAMB4 22798 genome.wustl.edu 36 7 107465268 107465268 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107465268 107465268 C G SNP LAMB4 NM_007356 human genbank 54_36p -1 validated missense c.4480 p.V1494L 0.91 NULL "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors C7orf66 154907 genome.wustl.edu 36 7 108311757 108311757 + Silent SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 108311757 108311757 T C SNP C7orf66 NM_001024607 human genbank 54_36p -1 predicted silent c.69 p.R23 0 NULL NULL - no_errors C7orf66 154907 genome.wustl.edu 36 7 108311794 108311794 + Missense_Mutation SNP A T T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 108311794 108311794 A T SNP C7orf66 NM_001024607 human genbank 54_36p -1 predicted missense c.32 p.L11H 0 NULL NULL - no_errors EIF3IP1 442720 genome.wustl.edu 36 7 109386970 109386970 + RNA SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 109386970 109386970 G T SNP EIF3IP1 NR_003024 human genbank 54_36p -1 provisional rna NULL NULL 1 - - - pseudogene EIF3IP1 442720 genome.wustl.edu 36 7 109387396 109387396 + RNA SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 109387396 109387396 C T SNP EIF3IP1 NR_003024 human genbank 54_36p -1 provisional rna NULL NULL 0.99 - - - pseudogene DOCK4 9732 genome.wustl.edu 36 7 111217830 111217830 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 111217830 111217830 C T SNP DOCK4 NM_014705 human genbank 54_36p -1 reviewed silent c.3234 p.Q1078 1 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors ZNF277 11179 genome.wustl.edu 36 7 111723525 111723525 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 111723525 111723525 C A SNP ZNF277 NM_021994 human genbank 54_36p 1 validated missense c.388 p.Q130K 1 NULL "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors C7orf60 154743 genome.wustl.edu 36 7 112322977 112322977 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 112322977 112322977 T A SNP C7orf60 NM_152556 human genbank 54_36p -1 validated missense c.356 p.D119V 1 NULL NULL - no_errors GPR85 54329 genome.wustl.edu 36 7 112511041 112511041 + Silent SNP A A G novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 112511041 112511041 A G SNP GPR85 NM_018970 human genbank 54_36p -1 validated silent c.972 p.A324 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors PPP1R3A 5506 genome.wustl.edu 36 7 113345820 113345820 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 113345820 113345820 T A SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.468 p.L156F 1 HMMPfam_CBM_21 HMMPfam_CBM_21 - no_errors PPP1R3A 5506 genome.wustl.edu 36 7 113346185 113346185 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 113346185 113346185 G A SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.103 p.P35S 1 NULL HMMPfam_CBM_21 - no_errors ZFAND2A 90637 genome.wustl.edu 36 7 1159339 1159339 + Frame_Shift_Del DEL C C - novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C - C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 1159339 1159339 C - DEL ZFAND2A NM_182491 human genbank 54_36p -1 provisional frame_shift_del c.330 p.M110fs 1 "HMMSmart_ZnF_AN1,HMMPfam_zf-AN1" "HMMSmart_ZnF_AN1,HMMPfam_zf-AN1" "(deletion:cds_exon[1159231,1159386])" no_errors THSD7A 221981 genome.wustl.edu 36 7 11642346 11642346 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 11642346 11642346 G A SNP THSD7A NM_015204 human genbank 54_36p -1 validated nonsense c.958 p.Q320* 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors ST7 7982 genome.wustl.edu 36 7 116561414 116561414 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 116561414 116561414 A T SNP ST7 NM_021908 human genbank 54_36p 1 reviewed missense c.642 p.E214D 1 HMMPfam_ST7 HMMPfam_ST7 - no_errors WNT2 7472 genome.wustl.edu 36 7 116724987 116724987 + Silent SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 116724987 116724987 A T SNP WNT2 NM_003391 human genbank 54_36p -1 reviewed silent c.768 p.A256 0.98 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors ASZ1 136991 genome.wustl.edu 36 7 116808353 116808353 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 116808353 116808353 C G SNP ASZ1 NM_130768 human genbank 54_36p -1 validated missense c.893 p.R298T 0.98 "HMMPfam_SAM_2,superfamily_SAM_homology" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SAM_2,superfamily_SAM_homology" - no_errors CFTR 1080 genome.wustl.edu 36 7 116958238 116958238 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 116958238 116958238 C A SNP CFTR NM_000492 human genbank 54_36p 1 reviewed missense c.323 p.S108Y 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors CTTNBP2 83992 genome.wustl.edu 36 7 117138969 117138969 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 117138969 117138969 C G SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed missense c.4850 p.R1617T 1 NULL "HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors CTTNBP2 83992 genome.wustl.edu 36 7 117211650 117211650 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 117211650 117211650 T G SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed silent c.2163 p.G721 1 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_CortBP2" - no_errors KCND2 3751 genome.wustl.edu 36 7 119702341 119702341 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 119702341 119702341 G A SNP KCND2 NM_012281 human genbank 54_36p 1 reviewed missense c.419 p.R140H 1 "superfamily_POZ domain,HMMSmart_SM00225" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors C7orf58 79974 genome.wustl.edu 36 7 120474195 120474195 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 120474195 120474195 A G SNP C7orf58 NM_024913 human genbank 54_36p 1 validated missense c.452 p.D151G 1 NULL NULL - no_errors C7orf58 79974 genome.wustl.edu 36 7 120555707 120555707 + Silent SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 120555707 120555707 G C SNP C7orf58 NM_024913 human genbank 54_36p 1 validated silent c.1338 p.L446 0.9 NULL NULL - no_errors WNT16 51384 genome.wustl.edu 36 7 120766354 120766354 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G - G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 120766354 120766354 G - DEL WNT16 NM_057168 human genbank 54_36p 1 reviewed frame_shift_del c.817 p.D273fs 0.92 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" "(deletion:cds_exon[120766171,120766635])" no_errors WNT16 51384 genome.wustl.edu 36 7 120766520 120766520 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 120766520 120766520 G A SNP WNT16 NM_057168 human genbank 54_36p 1 reviewed missense c.983 p.G328D 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121438335 121438335 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 121438335 121438335 G T SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed nonsense c.1999 p.G667* 0 NULL "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121458776 121458776 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 121458776 121458776 C T SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed missense c.5093 p.A1698V 1 superfamily_(Phosphotyrosine protein) phosphatases II "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121486093 121486093 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 121486093 121486093 G A SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed missense c.6532 p.D2178N 1 "HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors AASS 10157 genome.wustl.edu 36 7 121545713 121545713 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 121545713 121545713 T G SNP AASS NM_005763 human genbank 54_36p -1 reviewed missense c.571 p.S191R 1 superfamily_Formate/glycerate dehydrogenase catalytic domain-like "superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AlaDh_PNT_N,HMMPfam_AlaDh_PNT_C,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain" - no_errors FEZF1 389549 genome.wustl.edu 36 7 121731053 121731053 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 121731053 121731053 C G SNP FEZF1 NM_001024613 human genbank 54_36p -1 provisional missense c.675 p.Q225H 1 NULL "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SLC13A1 6561 genome.wustl.edu 36 7 122596533 122596533 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 122596533 122596533 G A SNP SLC13A1 NM_022444 human genbank 54_36p -1 validated missense c.458 p.A153V 1 HMMPfam_Na_sulph_symp "HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE" - no_errors IQUB 154865 genome.wustl.edu 36 7 122939603 122939603 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 122939603 122939603 C A SNP IQUB NM_178827 human genbank 54_36p -1 validated missense c.28 p.A10S 0 NULL "HMMPfam_DUF2021,superfamily_Ubiquitin-like" - no_errors SPAM1 6677 genome.wustl.edu 36 7 123387190 123387190 + Silent SNP C C T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 123387190 123387190 C T SNP SPAM1 NM_003117 human genbank 54_36p 1 reviewed silent c.1461 p.S487 0 NULL "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat" - no_errors LOC136157 136157 genome.wustl.edu 36 7 123903965 123903965 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 123903965 123903965 C A SNP LOC136157 NM_001085395 human genbank 54_36p 1 validated missense c.305 p.T102N 0.95 HMMPfam_Ssu72 HMMPfam_Ssu72 - no_errors GRM8 2918 genome.wustl.edu 36 7 125960745 125960745 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 125960745 125960745 G T SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.1927 p.P643T 1 HMMPfam_7tm_3 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GRM8 2918 genome.wustl.edu 36 7 125961007 125961007 + Silent SNP A A T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 125961007 125961007 A T SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed silent c.1665 p.L555 0.98 "HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I" - no_errors SCIN 85477 genome.wustl.edu 36 7 12631265 12631265 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 12631265 12631265 G A SNP SCIN NM_033128 human genbank 54_36p 1 validated missense c.124 p.A42T 0.02 "superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin" "superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors GRM8 2918 genome.wustl.edu 36 7 126670303 126670303 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 126670303 126670303 A C SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.192 p.C64W 1 superfamily_Periplasmic binding protein-like I "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I" - no_errors ZNF800 168850 genome.wustl.edu 36 7 126801698 126801698 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 126801698 126801698 G A SNP ZNF800 NM_176814 human genbank 54_36p -1 validated missense c.928 p.H310Y 1 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GCC1 79571 genome.wustl.edu 36 7 127010028 127010028 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 127010028 127010028 C T SNP GCC1 NM_024523 human genbank 54_36p -1 reviewed missense c.1604 p.R535Q 1 NULL "HMMPfam_GRIP,HMMSmart_SM00755" - no_errors PAX4 5078 genome.wustl.edu 36 7 127040334 127040334 + Silent SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 127040334 127040334 G C SNP PAX4 NM_006193 human genbank 54_36p -1 reviewed silent c.669 p.L223 1 "superfamily_Homeodomain_like,HMMSmart_HOX" "superfamily_Homeodomain_like,HMMPfam_PAX,HMMSmart_PAX,PatternScan_PAIRED_1,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors RBM28 55131 genome.wustl.edu 36 7 127740546 127740546 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 127740546 127740546 T C SNP RBM28 NM_018077 human genbank 54_36p -1 validated missense c.2063 p.K688R 0.98 NULL "HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1" - no_errors FLNC 2318 genome.wustl.edu 36 7 128271524 128271524 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128271524 128271524 G T SNP FLNC NM_001458 human genbank 54_36p 1 reviewed missense c.3160 p.V1054L 1 "HMMSmart_SM00557,superfamily_E set domains" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557" - no_errors ATP6V1F 9296 genome.wustl.edu 36 7 128292746 128292746 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128292746 128292746 G A SNP ATP6V1F NM_004231 human genbank 54_36p 1 reviewed missense c.238 p.A80T 1 HMMPfam_ATP-synt_F HMMPfam_ATP-synt_F - no_errors TNPO3 23534 genome.wustl.edu 36 7 128399755 128399755 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 128399755 128399755 C T SNP TNPO3 NM_012470 human genbank 54_36p -1 validated silent c.2391 p.R797 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Xpo1" - no_errors TNPO3 23534 genome.wustl.edu 36 7 128442343 128442343 + Silent SNP G G T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128442343 128442343 G T SNP TNPO3 NM_012470 human genbank 54_36p -1 validated silent c.478 p.R160 1 "HMMPfam_Xpo1,superfamily_ARM repeat" "HMMPfam_Xpo1,superfamily_ARM repeat" - no_errors LOC407835 407835 genome.wustl.edu 36 7 128554053 128554053 + RNA SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128554053 128554053 C T SNP LOC407835 NR_002144 human genbank 54_36p 1 provisional rna NULL NULL 0.95 - - - pseudogene AHCYL2 23382 genome.wustl.edu 36 7 128806799 128806799 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128806799 128806799 C T SNP AHCYL2 NM_015328 human genbank 54_36p 1 validated nonsense c.448 p.Q150* 1 NULL "superfamily_SSF52283,HMMPfam_AdoHcyase,PatternScan_ADOHCYASE_1,superfamily_NAD(P)-bd,HMMPfam_AdoHcyase_NAD,PatternScan_ADOHCYASE_2" - no_errors TMEM209 84928 genome.wustl.edu 36 7 129602659 129602659 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 129602659 129602659 A T SNP TMEM209 NM_032842 human genbank 54_36p -1 validated missense c.1273 p.S425T 1 HMMPfam_CytochromB561_N HMMPfam_CytochromB561_N - no_errors MEST 4232 genome.wustl.edu 36 7 129925243 129925243 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 129925243 129925243 C T SNP MEST NM_002402 human genbank 54_36p 1 reviewed nonsense c.367 p.Q123* 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors TSGA13 114960 genome.wustl.edu 36 7 130008148 130008148 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 130008148 130008148 C T SNP TSGA13 NM_052933 human genbank 54_36p -1 provisional missense c.496 p.D166N 0 NULL NULL - no_errors TSGA13 114960 genome.wustl.edu 36 7 130019032 130019032 + Silent SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 130019032 130019032 T G SNP TSGA13 NM_052933 human genbank 54_36p -1 provisional silent c.42 p.S14 0.02 NULL NULL - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131481867 131481867 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 131481867 131481867 C T SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.4997 p.G1666E 1 "HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131483904 131483904 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 131483904 131483904 C A SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated nonsense c.4702 p.E1568* 1 "superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl" "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat" - no_errors EXOC4 60412 genome.wustl.edu 36 7 132588414 132588414 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 132588414 132588414 C A SNP EXOC4 NM_021807 human genbank 54_36p 1 reviewed missense c.17 p.A6D 1 HMMPfam_Sec8_exocyst "HMMPfam_Sec8_exocyst,PatternScan_DEAH_ATP_HELICASE" - no_errors EXOC4 60412 genome.wustl.edu 36 7 133230893 133230893 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 133230893 133230893 G A SNP EXOC4 NM_021807 human genbank 54_36p 1 reviewed missense c.1736 p.S579N 1 NULL "PatternScan_DEAH_ATP_HELICASE,HMMPfam_Sec8_exocyst" - no_errors EXOC4 60412 genome.wustl.edu 36 7 133252932 133252932 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 133252932 133252932 A G SNP EXOC4 NM_021807 human genbank 54_36p 1 reviewed missense c.1928 p.D643G 1 NULL "PatternScan_DEAH_ATP_HELICASE,HMMPfam_Sec8_exocyst" - no_errors AKR1B1 231 genome.wustl.edu 36 7 133782646 133782646 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 133782646 133782646 T C SNP AKR1B1 NM_001628 human genbank 54_36p -1 reviewed missense c.769 p.N257D 1 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors C7orf49 78996 genome.wustl.edu 36 7 134502124 134502124 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 134502124 134502124 C A SNP C7orf49 NM_024033 human genbank 54_36p -1 validated missense c.169 p.A57S 0.01 NULL NULL - no_errors LOC647081 647081 genome.wustl.edu 36 7 134780340 134780340 + RNA SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 134780340 134780340 T C SNP LOC647081 XR_017490 human genbank 54_36p 1 model rna NULL NULL 0.16 - - - pseudogene NUP205 23165 genome.wustl.edu 36 7 134920198 134920198 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 134920198 134920198 A T SNP NUP205 NM_015135 human genbank 54_36p 1 validated missense c.1121 p.E374V 1 NULL NULL - no_errors CHRM2 1129 genome.wustl.edu 36 7 136350196 136350196 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 136350196 136350196 C G SNP CHRM2 NM_000739 human genbank 54_36p 1 reviewed missense c.44 p.T15R 0.07 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CHRM2 1129 genome.wustl.edu 36 7 136350307 136350307 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 136350307 136350307 G A SNP CHRM2 NM_000739 human genbank 54_36p 1 reviewed missense c.155 p.R52H 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors CHRM2 1129 genome.wustl.edu 36 7 136350436 136350436 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 136350436 136350436 T G SNP CHRM2 NM_000739 human genbank 54_36p 1 reviewed missense c.284 p.V95G 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors CHRM2 1129 genome.wustl.edu 36 7 136351313 136351313 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 136351313 136351313 G T SNP CHRM2 NM_000739 human genbank 54_36p 1 reviewed missense c.1161 p.R387S 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors LOC442727 442727 genome.wustl.edu 36 7 137739747 137739747 + RNA SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 137739747 137739747 T C SNP LOC442727 XR_017503 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene TRIM24 8805 genome.wustl.edu 36 7 137920089 137920089 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 137920089 137920089 G C SNP TRIM24 NM_015905 human genbank 54_36p 1 reviewed missense c.3006 p.K1002N 1 "superfamily_Bromodomain,HMMSmart_SM00297" ############################################################################################################################################################################################################################################################### - no_errors ZC3HAV1 56829 genome.wustl.edu 36 7 138419274 138419274 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 138419274 138419274 G T SNP ZC3HAV1 NM_020119 human genbank 54_36p -1 reviewed missense c.489 p.N163K 0 NULL "HMMPfam_zf-CCCH,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors UBN2 254048 genome.wustl.edu 36 7 138596723 138596724 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 CA CA CA - CA CA Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 138596723 138596724 CA - DEL UBN2 NM_173569 human genbank 54_36p 1 validated frame_shift_del c.842_843 p.L282fs 0.000:0.000 NULL PatternScan_TUBULIN "(deletion:cds_exon[138596538,138597027])" no_errors HIPK2 28996 genome.wustl.edu 36 7 138935823 138935823 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 138935823 138935823 G A SNP HIPK2 NM_022740 human genbank 54_36p -1 validated missense c.1166 p.T389I 1 NULL "HMMPfam_Pkinase,superfamily_Kinase_like" - no_errors HIPK2 28996 genome.wustl.edu 36 7 138949750 138949750 + Silent SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 138949750 138949750 G C SNP HIPK2 NM_022740 human genbank 54_36p -1 validated silent c.663 p.S221 1 NULL "superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors LOC653052 653052 genome.wustl.edu 36 7 139063067 139063067 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139063067 139063067 C T SNP LOC653052 XM_925800 human genbank 54_36p -1 model missense c.253 p.V85I 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TBXAS1 6916 genome.wustl.edu 36 7 139299719 139299719 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139299719 139299719 C G SNP TBXAS1 NM_001061 human genbank 54_36p 1 reviewed missense c.537 p.I179M 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors JHDM1D 80853 genome.wustl.edu 36 7 139443277 139443277 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139443277 139443277 C T SNP JHDM1D NM_030647 human genbank 54_36p -1 provisional missense c.2056 p.D686N 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_EGF_2,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors SLC37A3 84255 genome.wustl.edu 36 7 139728729 139728729 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139728729 139728729 C T SNP SLC37A3 NM_207113 human genbank 54_36p -1 validated missense c.67 p.V23M 0.84 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors MKRN1 23608 genome.wustl.edu 36 7 139801397 139801397 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139801397 139801397 C G SNP MKRN1 NM_013446 human genbank 54_36p -1 validated missense c.1203 p.Q401H 1 NULL "superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors DENND2A 27147 genome.wustl.edu 36 7 139890930 139890930 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139890930 139890930 G T SNP DENND2A NM_015689 human genbank 54_36p -1 validated missense c.2284 p.L762M 1 "HMMPfam_DENN,HMMSmart_SM00799" "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801" - no_errors DENND2A 27147 genome.wustl.edu 36 7 139947739 139947739 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 139947739 139947739 A C SNP DENND2A NM_015689 human genbank 54_36p -1 validated missense c.928 p.S310A 1 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800" - no_errors BRAF 673 genome.wustl.edu 36 7 140095638 140095638 + Nonsense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 140095638 140095638 G C SNP BRAF NM_004333 human genbank 54_36p -1 reviewed nonsense c.1910 p.S637* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors SSBP1 6742 genome.wustl.edu 36 7 141089911 141089911 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141089911 141089911 T G SNP SSBP1 NM_003143 human genbank 54_36p 1 validated missense c.167 p.I56R 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_SSB" "superfamily_Nucleic acid-binding proteins,HMMPfam_SSB" - no_errors MGAM 8972 genome.wustl.edu 36 7 141396976 141396976 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141396976 141396976 A G SNP MGAM NM_004668 human genbank 54_36p 1 reviewed missense c.2648 p.E883G 0.01 NULL "HMMPfam_Trefoil,HMMPfam_Glyco_hydro_31" - no_errors MGAM 8972 genome.wustl.edu 36 7 141405774 141405774 + Silent SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141405774 141405774 C A SNP MGAM NM_004668 human genbank 54_36p 1 reviewed silent c.3853 p.R1285 1 HMMPfam_Glyco_hydro_31 "HMMPfam_Glyco_hydro_31,HMMPfam_Trefoil" - no_errors uc003vym.2 0 genome.wustl.edu 36 7 141819621 141819621 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141819621 141819621 C A SNP uc003vym.2 ENST00000390368 human ensembl 54_36p 1 known missense c.52 p.P18T 0 NULL "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region PRSS2 5645 genome.wustl.edu 36 7 142180011 142180011 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142180011 142180011 C G SNP PRSS2 NM_002770 human genbank 54_36p 1 reviewed missense c.200 p.S67C 0.99 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors KEL 3792 genome.wustl.edu 36 7 142351551 142351551 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142351551 142351551 G A SNP KEL NM_000420 human genbank 54_36p -1 reviewed missense c.1472 p.A491V 0.01 superfamily_Metalloproteases (zincins) catalytic domain "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors KEL 3792 genome.wustl.edu 36 7 142351606 142351606 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142351606 142351606 C A SNP KEL NM_000420 human genbank 54_36p -1 reviewed missense c.1417 p.A473S 0.11 "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors OR6V1 346517 genome.wustl.edu 36 7 142460290 142460290 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142460290 142460290 C A SNP OR6V1 NM_001001667 human genbank 54_36p 1 provisional missense c.731 p.T244K 0.03 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PIP 5304 genome.wustl.edu 36 7 142546374 142546374 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142546374 142546374 A G SNP PIP NM_002652 human genbank 54_36p 1 validated missense c.286 p.K96E 0 HMMPfam_SVA HMMPfam_SVA - no_errors EPHA1 2041 genome.wustl.edu 36 7 142798707 142798707 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142798707 142798707 G A SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed missense c.2896 p.R966C 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" ############################################################################################################################################################################################################################################################### - no_errors EPHA1 2041 genome.wustl.edu 36 7 142798911 142798911 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142798911 142798911 G C SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed missense c.2776 p.R926G 0.94 "HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain" ############################################################################################################################################################################################################################################################### - no_errors EPHA1 2041 genome.wustl.edu 36 7 142802352 142802352 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142802352 142802352 A G SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed missense c.2129 p.L710P 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors LOC441294 441294 genome.wustl.edu 36 7 142980478 142980478 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142980478 142980478 A C SNP LOC441294 NM_001008747 human genbank 54_36p 1 predicted missense c.1446 p.E482D 1 NULL NULL - no_errors OR2F2 135948 genome.wustl.edu 36 7 143263482 143263482 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 143263482 143263482 C G SNP OR2F2 NM_001004685 human genbank 54_36p 1 provisional missense c.224 p.T75R 0.78 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2F1 26211 genome.wustl.edu 36 7 143288443 143288443 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 143288443 143288443 G T SNP OR2F1 NM_012369 human genbank 54_36p 1 provisional missense c.447 p.W149C 0.99 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2A5 393046 genome.wustl.edu 36 7 143378730 143378730 + Silent SNP C C A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 143378730 143378730 C A SNP OR2A5 NM_012365 human genbank 54_36p 1 provisional silent c.303 p.T101 0.57 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2A12 346525 genome.wustl.edu 36 7 143423923 143423923 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 143423923 143423923 A G SNP OR2A12 NM_001004135 human genbank 54_36p 1 provisional missense c.790 p.S264G 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CTAGE4 100128553 genome.wustl.edu 36 7 143512235 143512235 + RNA SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 143512235 143512235 G C SNP CTAGE4 XR_038147 human genbank 54_36p 1 model rna NULL NULL 0.44 - - - no_errors CTAGE4 100128553 genome.wustl.edu 36 7 143513727 143513727 + RNA SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 143513727 143513727 C T SNP CTAGE4 XR_038147 human genbank 54_36p 1 model rna NULL NULL 0.91 - - - no_errors TPK1 27010 genome.wustl.edu 36 7 143919487 143919487 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 143919487 143919487 T C SNP TPK1 NM_022445 human genbank 54_36p -1 reviewed missense c.463 p.I155V 0.99 "superfamily_TPK_catalytic,HMMPfam_TPK_catalytic" "superfamily_TPK_catalytic,HMMPfam_TPK_catalytic,superfamily_TPK_B1_bd,HMMPfam_TPK_B1_binding" - no_errors LOC100132804 100132804 genome.wustl.edu 36 7 143976549 143976549 + RNA SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 143976549 143976549 G A SNP LOC100132804 XR_038193 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CNTNAP2 26047 genome.wustl.edu 36 7 146460357 146460357 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 146460357 146460357 A C SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.1171 p.N391H 0.02 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors DGKB 1607 genome.wustl.edu 36 7 14700296 14700296 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 14700296 14700296 C T SNP DGKB NM_004080 human genbank 54_36p -1 reviewed missense c.640 p.V214M 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors CNTNAP2 26047 genome.wustl.edu 36 7 147475602 147475602 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 147475602 147475602 C A SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.2641 p.Q881K 1 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors PDIA4 9601 genome.wustl.edu 36 7 148332034 148332034 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 148332034 148332034 G C SNP PDIA4 NM_004911 human genbank 54_36p -1 validated missense c.1723 p.Q575E 0.96 "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors ZNF425 155054 genome.wustl.edu 36 7 148432349 148432349 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 148432349 148432349 T C SNP ZNF425 NM_001001661 human genbank 54_36p -1 provisional missense c.1547 p.H516R 0.88 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF425 155054 genome.wustl.edu 36 7 148432952 148432952 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 148432952 148432952 C T SNP ZNF425 NM_001001661 human genbank 54_36p -1 provisional missense c.944 p.C315Y 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF398 57541 genome.wustl.edu 36 7 148482062 148482062 + Silent SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 148482062 148482062 A G SNP ZNF398 NM_170686 human genbank 54_36p 1 reviewed silent c.117 p.A39 0.9 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF862 643641 genome.wustl.edu 36 7 149176253 149176253 + Silent SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 149176253 149176253 G T SNP ZNF862 NM_001099220 human genbank 54_36p 1 provisional silent c.738 p.G246 1 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00597,HMMPfam_hATC" - no_errors C7orf29 113763 genome.wustl.edu 36 7 149658736 149658736 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 149658736 149658736 G C SNP C7orf29 NM_138434 human genbank 54_36p 1 validated missense c.310 p.V104L 0.85 NULL NULL - no_errors GIMAP8 155038 genome.wustl.edu 36 7 149805162 149805162 + Silent SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 149805162 149805162 G A SNP GIMAP8 NM_175571 human genbank 54_36p 1 reviewed silent c.1359 p.A453 0.72 "superfamily_SSF52540,HMMPfam_AIG1" "superfamily_SSF52540,HMMPfam_AIG1" - no_errors GIMAP6 474344 genome.wustl.edu 36 7 149955985 149955985 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 149955985 149955985 G T SNP GIMAP6 NM_024711 human genbank 54_36p -1 reviewed missense c.634 p.L212M 0.79 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1" - no_errors GIMAP5 55340 genome.wustl.edu 36 7 150070313 150070313 + Silent SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 150070313 150070313 C G SNP GIMAP5 NM_018384 human genbank 54_36p 1 reviewed silent c.153 p.P51 0 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1" - no_errors ABP1 26 genome.wustl.edu 36 7 150185135 150185135 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 150185135 150185135 C A SNP ABP1 NM_001091 human genbank 54_36p 1 reviewed missense c.644 p.T215N 0.98 "superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN3" "superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2" - no_errors ABP1 26 genome.wustl.edu 36 7 150188644 150188644 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 150188644 150188644 T C SNP ABP1 NM_001091 human genbank 54_36p 1 reviewed missense c.1979 p.I660T 1 "HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain" "PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2,HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase N-terminal region" - no_errors KCNH2 3757 genome.wustl.edu 36 7 150280856 150280856 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 150280856 150280856 C T SNP KCNH2 NM_000238 human genbank 54_36p -1 reviewed missense c.1147 p.D383N 0.99 NULL "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors SMARCD3 6604 genome.wustl.edu 36 7 150569567 150569567 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 150569567 150569567 T A SNP SMARCD3 NM_001003801 human genbank 54_36p -1 reviewed missense c.883 p.R295W 1 "superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,HMMSmart_SM00151" "superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,HMMSmart_SM00151" - no_errors GALNTL5 168391 genome.wustl.edu 36 7 151342712 151342712 + Silent SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151342712 151342712 A G SNP GALNTL5 NM_145292 human genbank 54_36p 1 provisional silent c.1077 p.G359 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" - no_errors GALNTL5 168391 genome.wustl.edu 36 7 151347688 151347688 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151347688 151347688 G A SNP GALNTL5 NM_145292 human genbank 54_36p 1 provisional missense c.1201 p.G401S 0.42 superfamily_Nucleotide-diphospho-sugar transferases "HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors MLL3 58508 genome.wustl.edu 36 7 151482139 151482139 + Silent SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151482139 151482139 G A SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed silent c.12165 p.I4055 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL3 58508 genome.wustl.edu 36 7 151482376 151482376 + Silent SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151482376 151482376 G A SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed silent c.12048 p.S4016 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL3 58508 genome.wustl.edu 36 7 151491100 151491100 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151491100 151491100 G C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.10495 p.Q3499E 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL3 58508 genome.wustl.edu 36 7 151491555 151491555 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151491555 151491555 T C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.10040 p.N3347S 0.63 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL3 58508 genome.wustl.edu 36 7 151593143 151593143 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 151593143 151593143 T G SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.1097 p.Y366S 1 "HMMSmart_SM00184,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" ############################################################################################################################################################################################################################################################### - no_errors CCT8L1 155100 genome.wustl.edu 36 7 151774449 151774449 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 151774449 151774449 T A SNP CCT8L1 NM_001029866 human genbank 54_36p 1 inferred missense c.955 p.S319T 0.17 "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029" "PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029" - no_errors DPP6 1804 genome.wustl.edu 36 7 154010382 154010382 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 154010382 154010382 T A SNP DPP6 ENST00000406326 human ensembl 54_36p 1 known nonsense c.717 p.C239* 0 NULL superfamily_SSF82171 - no_errors HTR5A 3361 genome.wustl.edu 36 7 154506945 154506945 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 154506945 154506945 T G SNP HTR5A NM_024012 human genbank 54_36p 1 reviewed missense c.889 p.C297G 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RBM33 155435 genome.wustl.edu 36 7 155230630 155230630 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 155230630 155230630 C G SNP RBM33 NM_053043 human genbank 54_36p 1 validated nonsense c.2552 p.S851* 0 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360" - no_errors UBE3C 9690 genome.wustl.edu 36 7 156733849 156733849 + Silent SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 156733849 156733849 G A SNP UBE3C NM_014671 human genbank 54_36p 1 validated silent c.2508 p.E836 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors DNAJB6 10049 genome.wustl.edu 36 7 156870413 156870413 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 156870413 156870413 G A SNP DNAJB6 NM_058246 human genbank 54_36p 1 reviewed silent c.570 p.S190 0.66 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1" - no_errors DNAJB6 10049 genome.wustl.edu 36 7 156871070 156871070 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 156871070 156871070 A T SNP DNAJB6 NM_005494 human genbank 54_36p 1 reviewed missense c.695 p.K232M 1 NULL "HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain,PatternScan_DNAJ_1" - no_errors PTPRN2 5799 genome.wustl.edu 36 7 157054389 157054389 + Silent SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 157054389 157054389 G A SNP PTPRN2 NM_002847 human genbank 54_36p -1 reviewed silent c.2868 p.V956 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRN2 5799 genome.wustl.edu 36 7 157080742 157080742 + Silent SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 157080742 157080742 C T SNP PTPRN2 NM_002847 human genbank 54_36p -1 reviewed silent c.2445 p.A815 0.69 "HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors PTPRN2 5799 genome.wustl.edu 36 7 157652543 157652543 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 157652543 157652543 C G SNP PTPRN2 NM_002847 human genbank 54_36p -1 reviewed missense c.751 p.A251P 0.73 NULL "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors BZW2 28969 genome.wustl.edu 36 7 16701010 16701021 + In_Frame_Del DEL TGTGGATCATTT TGTGGATCATTT - novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 TGTGGATCATTT TGTGGATCATTT TGTGGATCATTT - TGTGGATCATTT TGTGGATCATTT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 16701010 16701021 TGTGGATCATTT - DEL BZW2 NM_014038 human genbank 54_36p 1 provisional in_frame_del c.678_689 p.VDHF227in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000 NULL "superfamily_ARM repeat,HMMSmart_SM00515,HMMPfam_W2" "(deletion:cds_exon[16700984,16701154])" no_errors PRPS1L1 221823 genome.wustl.edu 36 7 18033759 18033759 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 18033759 18033759 T C SNP PRPS1L1 NM_175886 human genbank 54_36p -1 reviewed missense c.172 p.S58G 1 NULL "superfamily_PRTase-like,PatternScan_PRPP_SYNTHETASE,HMMPfam_Pribosyltran" - no_start_codon PRPS1L1 221823 genome.wustl.edu 36 7 18033786 18033786 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 18033786 18033786 G A SNP PRPS1L1 NM_175886 human genbank 54_36p -1 reviewed missense c.145 p.R49C 1 NULL "HMMPfam_Pribosyltran,PatternScan_PRPP_SYNTHETASE,superfamily_PRTase-like" - no_start_codon TWISTNB 221830 genome.wustl.edu 36 7 19704534 19704534 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 19704534 19704534 C G SNP TWISTNB NM_001002926 human genbank 54_36p -1 validated missense c.947 p.S316T 0.95 NULL HMMPfam_RNA_pol_Rpb7_N - no_errors MACC1 346389 genome.wustl.edu 36 7 20166166 20166166 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 20166166 20166166 A T SNP MACC1 NM_182762 human genbank 54_36p -1 validated missense c.343 p.S115T 1 NULL "HMMPfam_SH3_2,superfamily_DEATH domain" - no_errors DNAH11 8701 genome.wustl.edu 36 7 21814035 21814035 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 21814035 21814035 G A SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.10196 p.R3399H 1 NULL "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy" - no_errors DNAH11 8701 genome.wustl.edu 36 7 21872754 21872754 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 21872754 21872754 A C SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.11659 p.K3887Q 1 HMMPfam_Dynein_heavy "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RAPGEF5 9771 genome.wustl.edu 36 7 22314494 22314494 + Silent SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 22314494 22314494 G A SNP RAPGEF5 NM_012294 human genbank 54_36p -1 validated silent c.210 p.G70 0.95 superfamily_Winged helix DNA-binding domain "superfamily_Winged helix DNA-binding domain,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors SNX8 29886 genome.wustl.edu 36 7 2270533 2270533 + Silent SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 2270533 2270533 G T SNP SNX8 NM_013321 human genbank 54_36p -1 provisional silent c.708 p.R236 0.96 NULL "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" - no_errors NUPL2 11097 genome.wustl.edu 36 7 23206653 23206653 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23206653 23206653 G A SNP NUPL2 NM_007342 human genbank 54_36p 1 validated missense c.1036 p.G346S 0.5 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors IGF2BP3 10643 genome.wustl.edu 36 7 23349916 23349916 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23349916 23349916 C T SNP IGF2BP3 NM_006547 human genbank 54_36p -1 reviewed silent c.1023 p.E341 1 "superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" - no_errors IGF2BP3 10643 genome.wustl.edu 36 7 23357590 23357590 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23357590 23357590 C A SNP IGF2BP3 NM_006547 human genbank 54_36p -1 reviewed missense c.542 p.R181M 1 superfamily_RNA-binding domain RBD "HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),superfamily_RNA-binding domain RBD" - no_errors TRA2A 29896 genome.wustl.edu 36 7 23527918 23527918 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23527918 23527918 C G SNP TRA2A NM_013293 human genbank 54_36p -1 reviewed missense c.103 p.G35R 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors CLK2P 1197 genome.wustl.edu 36 7 23591232 23591232 + RNA SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23591232 23591232 C T SNP CLK2P NR_002711 human genbank 54_36p -1 validated rna NULL NULL 1 - - - pseudogene STK31 56164 genome.wustl.edu 36 7 23741746 23741746 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23741746 23741746 C G SNP STK31 NM_031414 human genbank 54_36p 1 reviewed missense c.548 p.S183C 0.8 NULL "HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" - no_errors STK31 56164 genome.wustl.edu 36 7 23777191 23777191 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 23777191 23777191 A G SNP STK31 NM_031414 human genbank 54_36p 1 reviewed missense c.1756 p.S586G 0.99 NULL "HMMSmart_SM00220,HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Protein kinase-like (PK-like),superfamily_Tudor/PWWP/MBT" - no_errors DFNA5 1687 genome.wustl.edu 36 7 24750786 24750786 + Silent SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 24750786 24750786 G A SNP DFNA5 NM_004403 human genbank 54_36p -1 reviewed silent c.324 p.R108 0.03 HMMPfam_Gasdermin HMMPfam_Gasdermin - no_errors NPVF 64111 genome.wustl.edu 36 7 25234538 25234538 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 25234538 25234538 T A SNP NPVF NM_022150 human genbank 54_36p -1 validated missense c.46 p.T16S 1 NULL NULL - no_errors NFE2L3 9603 genome.wustl.edu 36 7 26190738 26190738 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 26190738 26190738 G T SNP NFE2L3 NM_004289 human genbank 54_36p 1 reviewed missense c.895 p.A299S 0.01 NULL "superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC" - no_errors HNRNPA2B1 3181 genome.wustl.edu 36 7 26199751 26199751 + Missense_Mutation SNP G C C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 26199751 26199751 G C SNP HNRPA2B1 ENST00000396395 human ensembl 54_36p -1 known missense c.647 p.A216G 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors CBX3 11335 genome.wustl.edu 36 7 26209145 26209145 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 26209145 26209145 T G SNP CBX3 NM_007276 human genbank 54_36p 1 reviewed missense c.2 p.M1R 1 NULL "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,PatternScan_CHROMO_1,HMMSmart_SM00300,HMMPfam_Chromo_shadow" - no_errors HOXA1 3198 genome.wustl.edu 36 7 27102010 27102010 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 27102010 27102010 C G SNP HOXA1 NM_005522 human genbank 54_36p -1 reviewed missense c.47 p.S16T 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXA2 3199 genome.wustl.edu 36 7 27106929 27106929 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 27106929 27106929 T C SNP HOXA2 NM_006735 human genbank 54_36p -1 reviewed missense c.1072 p.S358G 1 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXA6 3203 genome.wustl.edu 36 7 27153876 27153876 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 27153876 27153876 C T SNP HOXA6 NM_024014 human genbank 54_36p -1 reviewed silent c.18 p.V6 1 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors GNA12 2768 genome.wustl.edu 36 7 2737783 2737783 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 2737783 2737783 C T SNP GNA12 NM_007353 human genbank 54_36p -1 validated missense c.704 p.R235H 1 "HMMPfam_G-alpha,superfamily_SSF52540" "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" - no_errors CPVL 54504 genome.wustl.edu 36 7 29077912 29077912 + Splice_Site SNP A A C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 29077912 29077912 A C SNP CPVL NM_019029 human genbank 54_36p -1 reviewed splice_site c.864+2 e8+2 1 - - - no_errors CHN2 1124 genome.wustl.edu 36 7 29406693 29406693 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 29406693 29406693 C T SNP CHN2 ENST00000409350 human ensembl 54_36p 1 known missense c.251 p.T84I 0.96 NULL NULL - no_errors ADCYAP1R1 117 genome.wustl.edu 36 7 31090934 31090934 + Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G - G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 31090934 31090934 G - DEL ADCYAP1R1 NM_001118 human genbank 54_36p 1 reviewed frame_shift_del c.496 p.V166fs 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2" "superfamily_Hormone receptor domain (HRM Pfam 02793),HMMSmart_SM00008,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" "(deletion:cds_exon[31090877,31090974])" no_errors NEUROD6 63974 genome.wustl.edu 36 7 31344459 31344459 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 31344459 31344459 C T SNP NEUROD6 NM_022728 human genbank 54_36p -1 provisional missense c.949 p.D317N 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors CCDC129 223075 genome.wustl.edu 36 7 31584261 31584261 + Silent SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 31584261 31584261 C T SNP CCDC129 NM_194300 human genbank 54_36p 1 validated silent c.858 p.P286 0 NULL PatternScan_PA2_HIS - no_errors CCDC129 223075 genome.wustl.edu 36 7 31584509 31584509 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 31584509 31584509 C G SNP CCDC129 NM_194300 human genbank 54_36p 1 validated missense c.1106 p.T369S 0.01 NULL PatternScan_PA2_HIS - no_errors C7orf16 10842 genome.wustl.edu 36 7 31713361 31713361 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 31713361 31713361 A G SNP C7orf16 NM_006658 human genbank 54_36p 1 validated missense c.407 p.D136G 0.91 NULL NULL - no_errors BBS9 27241 genome.wustl.edu 36 7 33342684 33342684 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 33342684 33342684 G T SNP BBS9 NM_198428 human genbank 54_36p 1 reviewed nonsense c.1123 p.E375* 1 NULL NULL - no_errors BBS9 27241 genome.wustl.edu 36 7 33364087 33364087 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 33364087 33364087 A G SNP BBS9 NM_198428 human genbank 54_36p 1 reviewed missense c.1648 p.I550V 1 NULL NULL - no_errors BMPER 168667 genome.wustl.edu 36 7 33943483 33943483 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 33943483 33943483 C G SNP BMPER NM_133468 human genbank 54_36p 1 validated missense c.277 p.L93V 1 "HMMSmart_VWC,PatternScan_VWFC_1" "HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL" - no_errors BMPER 168667 genome.wustl.edu 36 7 34159392 34159392 + Silent SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 34159392 34159392 C A SNP BMPER NM_133468 human genbank 54_36p 1 validated silent c.2040 p.V680 0.99 "superfamily_Cysrich_TIL,HMMPfam_TIL" "HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_C8,HMMPfam_TIL" - no_errors DPY19L2P1 554236 genome.wustl.edu 36 7 35097826 35097826 + RNA SNP C C G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 35097826 35097826 C G SNP DPY19L2P1 NR_002833 human genbank 54_36p -1 provisional rna NULL NULL 0 - - - pseudogene ANLN 54443 genome.wustl.edu 36 7 36433083 36433083 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 36433083 36433083 G A SNP ANLN NM_018685 human genbank 54_36p 1 validated missense c.2804 p.R935Q 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors ANLN 54443 genome.wustl.edu 36 7 36449898 36449898 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 36449898 36449898 G C SNP ANLN NM_018685 human genbank 54_36p 1 validated missense c.2980 p.E994Q 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors ELMO1 9844 genome.wustl.edu 36 7 37219579 37219579 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 37219579 37219579 G A SNP ELMO1 NM_014800 human genbank 54_36p -1 reviewed silent c.840 p.I280 1 NULL "superfamily_ARM repeat,HMMPfam_ELMO_CED12,superfamily_PH domain-like" - no_errors TXNDC3 51314 genome.wustl.edu 36 7 37874001 37874001 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 37874001 37874001 G T SNP TXNDC3 NM_016616 human genbank 54_36p 1 validated missense c.794 p.G265V 0 superfamily_NDK "PatternScan_NDP_KINASES,HMMPfam_Thioredoxin,superfamily_Thiordxn-like_fd,PatternScan_THIOREDOXIN_1,superfamily_NDK,HMMSmart_NDK,HMMPfam_NDK" - no_errors EPDR1 54749 genome.wustl.edu 36 7 37926788 37926800 + Frame_Shift_Del DEL AGGCAGTGGCAGC AGGCAGTGGCAGC - novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 AGGCAGTGGCAGC AGGCAGTGGCAGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 37926788 37926800 AGGCAGTGGCAGC - DEL EPDR1 NM_017549 human genbank 54_36p 1 reviewed frame_shift_del c.82_94 p.Q31fs 0.083:0.084:0.084:0.084:0.084:0.084:0.083:0.082:0.080:0.077:0.074:0.070:0.065 NULL "HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2" "(deletion:cds_exon[37926707,37927335])" no_errors STARD3NL 83930 genome.wustl.edu 36 7 38223158 38223158 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 38223158 38223158 C T SNP STARD3NL NM_032016 human genbank 54_36p 1 provisional missense c.389 p.T130M 1 HMMPfam_MENTAL HMMPfam_MENTAL - no_errors AMPH 273 genome.wustl.edu 36 7 38395993 38395993 + Silent SNP A A G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 38395993 38395993 A G SNP AMPH NM_001635 human genbank 54_36p -1 reviewed silent c.1917 p.D639 1 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors C7orf10 79783 genome.wustl.edu 36 7 40280676 40280676 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 40280676 40280676 C T SNP C7orf10 NM_024728 human genbank 54_36p 1 predicted missense c.526 p.L176F 1 "superfamily_CoA-Trfase_fam_III,HMMPfam_CoA_transf_3" "superfamily_CoA-Trfase_fam_III,HMMPfam_CoA_transf_3" - no_errors GLI3 2737 genome.wustl.edu 36 7 41978556 41978556 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 41978556 41978556 G C SNP GLI3 NM_000168 human genbank 54_36p -1 reviewed missense c.2008 p.Q670E 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HECW1 23072 genome.wustl.edu 36 7 43499238 43499238 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 43499238 43499238 G A SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.3371 p.R1124H 1 NULL "HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors HECW1 23072 genome.wustl.edu 36 7 43558412 43558412 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 43558412 43558412 G A SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.4462 p.A1488T 0.92 "HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT" "HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB" - no_errors BLVRA 644 genome.wustl.edu 36 7 43813141 43813141 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 43813141 43813141 C T SNP BLVRA NM_000712 human genbank 54_36p 1 validated nonsense c.673 p.R225* 0.76 "superfamily_SSF55347,HMMPfam_Biliv-reduc_cat" "superfamily_NAD(P)-bd,HMMPfam_GFO_IDH_MocA,superfamily_SSF55347,HMMPfam_Biliv-reduc_cat" - no_errors POLM 27434 genome.wustl.edu 36 7 44087037 44087037 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 44087037 44087037 G A SNP POLM NM_013284 human genbank 54_36p -1 validated silent c.192 p.S64 0.01 "HMMSmart_BRCT,superfamily_BRCT" "HMMSmart_BRCT,superfamily_BRCT,superfamily_DNApol_B_N_like,HMMSmart_POLXc,superfamily_DNA_pol_lambd_fingers_domain,HMMPfam_DNA_pol_lambd_f,superfamily_SSF81301,PatternScan_DNA_POLYMERASE_X" - no_errors POLD2 5425 genome.wustl.edu 36 7 44122263 44122263 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 44122263 44122263 T C SNP POLD2 NM_006230 human genbank 54_36p -1 validated missense c.995 p.Y332C 1 HMMPfam_DNA_pol_E_B HMMPfam_DNA_pol_E_B - no_errors CAMK2B 816 genome.wustl.edu 36 7 44247903 44247903 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 44247903 44247903 C T SNP CAMK2B NM_001220 human genbank 54_36p -1 reviewed missense c.824 p.R275H 1 superfamily_Kinase_like "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF54427,HMMPfam_CaMKII_AD" - no_errors NPC1L1 29881 genome.wustl.edu 36 7 44522980 44522980 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 44522980 44522980 G A SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated silent c.3447 p.P1149 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors ADCY1 107 genome.wustl.edu 36 7 45684099 45684099 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 45684099 45684099 G A SNP ADCY1 NM_021116 human genbank 54_36p 1 reviewed missense c.1712 p.R571H 1 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors TNS3 64759 genome.wustl.edu 36 7 47406910 47406910 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 47406910 47406910 T G SNP TNS3 NM_022748 human genbank 54_36p -1 validated missense c.850 p.K284Q 1 "HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PTB" - no_errors PKD1L1 168507 genome.wustl.edu 36 7 47843084 47843084 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 47843084 47843084 G C SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.5903 p.A1968G 0.06 NULL "HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PKD,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_PKD_channel" - no_errors PKD1L1 168507 genome.wustl.edu 36 7 47853061 47853061 + Silent SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 47853061 47853061 C T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed silent c.5094 p.E1698 0.62 NULL "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PKD1L1 168507 genome.wustl.edu 36 7 47872723 47872723 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 47872723 47872723 A C SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.3911 p.L1304R 0.96 NULL "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PKD1L1 168507 genome.wustl.edu 36 7 47900115 47900115 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 47900115 47900115 G T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.2338 p.P780T 0.47 HMMPfam_REJ "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors C7orf57 136288 genome.wustl.edu 36 7 48047516 48047516 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 48047516 48047516 C T SNP C7orf57 NM_001100159 human genbank 54_36p 1 validated missense c.116 p.S39F 0.94 NULL NULL - no_errors ABCA13 154664 genome.wustl.edu 36 7 48256090 48256090 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 48256090 48256090 G T SNP ABCA13 ENST00000319379 human ensembl 54_36p 1 known missense c.1411 p.G471C 0.01 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_start_codon ABCA13 154664 genome.wustl.edu 36 7 48284358 48284358 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 48284358 48284358 T A SNP ABCA13 NM_152701 human genbank 54_36p 1 reviewed missense c.4386 p.S1462R 0.01 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA13 154664 genome.wustl.edu 36 7 48288863 48288863 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 48288863 48288863 G T SNP ABCA13 NM_152701 human genbank 54_36p 1 reviewed missense c.7363 p.V2455L 0 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FIGNL1 63979 genome.wustl.edu 36 7 50482269 50482269 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 50482269 50482269 C A SNP FIGNL1 NM_001042762 human genbank 54_36p -1 validated missense c.211 p.D71Y 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Vps4_C" - no_errors DDC 1644 genome.wustl.edu 36 7 50564418 50564418 + Silent SNP C T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 50564418 50564418 C T SNP DDC NM_000790 human genbank 54_36p -1 reviewed silent c.552 p.V184 1 "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC" "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC" - no_errors DDC 1644 genome.wustl.edu 36 7 50579101 50579101 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 50579101 50579101 G T SNP DDC NM_000790 human genbank 54_36p -1 reviewed missense c.177 p.D59E 0.04 "HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases" "HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC,superfamily_PLP-dependent transferases" - no_errors RBAK 57786 genome.wustl.edu 36 7 5070312 5070312 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 5070312 5070312 T C SNP RBAK NM_021163 human genbank 54_36p 1 reviewed silent c.699 p.Y233 0.21 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors VSTM2A 222008 genome.wustl.edu 36 7 54585204 54585204 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 54585204 54585204 G A SNP VSTM2A NM_182546 human genbank 54_36p 1 validated missense c.481 p.E161K 1 NULL "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" - no_errors ZNF713 349075 genome.wustl.edu 36 7 55958886 55958886 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 55958886 55958886 G C SNP ZNF713 NM_182633 human genbank 54_36p 1 provisional missense c.268 p.D90H 0.84 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SUMF2 25870 genome.wustl.edu 36 7 56114783 56114783 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 56114783 56114783 C T SNP SUMF2 NM_015411 human genbank 54_36p 1 reviewed missense c.890 p.P297L 0 NULL "HMMPfam_DUF323,superfamily_C-type lectin-like" - no_errors LOC441228 441228 genome.wustl.edu 36 7 56323390 56323390 + RNA SNP C C A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 56323390 56323390 C A SNP LOC441228 XR_016387 human genbank 54_36p 1 model rna NULL NULL 0.09 - - - no_errors LOC441228 441228 genome.wustl.edu 36 7 56325666 56325679 + RNA DEL TCTCTAGCAGACTG TCTCTAGCAGACTG - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 TCTCTAGCAGACTG TCTCTAGCAGACTG TCTCTAGCAGACTG - TCTCTAGCAGACTG TCTCTAGCAGACTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 56325666 56325679 TCTCTAGCAGACTG - DEL LOC441228 XR_016387 human genbank 54_36p 1 model rna NULL NULL 1.000:1.000:0.999:1.000:1.000:0.993:1.000:0.999:0.996:1.000:1.000:1.000:1.000:1.000 - - "(deletion:rna[56325106,56327174])" no_errors LOC728500 728500 genome.wustl.edu 36 7 57009139 57009139 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 57009139 57009139 G A SNP LOC728500 XM_001127570 human genbank 54_36p -1 model missense c.547 p.H183Y 0 NULL NULL - no_errors ZNF479 90827 genome.wustl.edu 36 7 57191653 57191653 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 57191653 57191653 C T SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.1411 p.G471S 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF479 90827 genome.wustl.edu 36 7 57192019 57192019 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 57192019 57192019 T C SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.1045 p.R349G 0.97 superfamily_SSF57667 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF479 90827 genome.wustl.edu 36 7 57192030 57192030 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 57192030 57192030 C G SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.1034 p.R345T 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors RNF216 54476 genome.wustl.edu 36 7 5747471 5747471 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 5747471 5747471 A C SNP RNF216 NM_207111 human genbank 54_36p -1 reviewed missense c.703 p.F235V 0.95 NULL "HMMSmart_IBR,superfamily_SSF57850" - no_errors ZNF716 441234 genome.wustl.edu 36 7 57532718 57532718 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 57532718 57532718 T G SNP ZNF716 XM_001714654 human genbank 54_36p 1 model missense c.609 p.H203Q 0.02 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF716 441234 genome.wustl.edu 36 7 57533681 57533681 + Silent SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 57533681 57533681 C A SNP ZNF716 ENST00000331425 human ensembl 54_36p 1 known silent c.1458 p.G486 0.4 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_stop_codon LOC643955 643955 genome.wustl.edu 36 7 62389761 62389761 + RNA SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 62389761 62389761 G C SNP LOC643955 NR_003952 human genbank 54_36p -1 validated rna NULL NULL 0.8 - - - pseudogene LOC442319 442319 genome.wustl.edu 36 7 63176462 63176462 + RNA SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 63176462 63176462 A T SNP LOC442319 XR_016680 human genbank 54_36p 1 model rna NULL NULL 1 - - - no_errors LOC728927 728927 genome.wustl.edu 36 7 63446220 63446221 + Frame_Shift_Del DEL TG TG - novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 TG TG TG - TG TG Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 63446220 63446221 TG - DEL LOC728927 XM_001128828 human genbank 54_36p 1 model frame_shift_del c.544_545 p.C182fs 0.863:0.649 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[63445903,63446960])" no_errors LOC644387 644387 genome.wustl.edu 36 7 63834059 63834059 + RNA SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 63834059 63834059 C T SNP LOC644387 XR_016224 human genbank 54_36p -1 model rna NULL NULL 0.13 - - - pseudogene KDELR2 11014 genome.wustl.edu 36 7 6475805 6475805 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 6475805 6475805 C T SNP KDELR2 NM_006854 human genbank 54_36p -1 reviewed missense c.298 p.V100I 1 HMMPfam_ER_lumen_recept "HMMPfam_ER_lumen_recept,PatternScan_ER_LUMEN_RECEPTOR_1,PatternScan_ER_LUMEN_RECEPTOR_2" - no_errors LOC493754 493754 genome.wustl.edu 36 7 65679380 65679380 + RNA SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 65679380 65679380 G A SNP LOC493754 NR_002933 human genbank 54_36p -1 provisional rna NULL NULL 0.01 - - - pseudogene KCTD7 154881 genome.wustl.edu 36 7 65741314 65741314 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 65741314 65741314 G A SNP KCTD7 NM_153033 human genbank 54_36p 1 validated missense c.530 p.R177H 1 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" - no_errors C7orf42 55069 genome.wustl.edu 36 7 66047621 66047621 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 66047621 66047621 G T SNP C7orf42 NM_017994 human genbank 54_36p 1 validated missense c.383 p.G128V 1 NULL NULL - no_errors C7orf26 79034 genome.wustl.edu 36 7 6606257 6606257 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 6606257 6606257 C G SNP C7orf26 NM_024067 human genbank 54_36p 1 predicted missense c.853 p.L285V 0.02 NULL NULL - no_errors ZNF12 7559 genome.wustl.edu 36 7 6703494 6703494 + Splice_Site SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 6703494 6703494 C A SNP ZNF12 NM_016265 human genbank 54_36p -1 reviewed splice_site c.238+1 e3+1 0.99 - - - no_errors PMS2CL 5395 genome.wustl.edu 36 7 6743617 6743617 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 6743617 6743617 C A SNP PMS2CL ENST00000338780 human ensembl 54_36p 1 known missense c.372 p.D124E 0.03 NULL NULL - no_errors C7orf28B 221960 genome.wustl.edu 36 7 6830641 6830641 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 6830641 6830641 A C SNP C7orf28B NM_198097 human genbank 54_36p -1 predicted missense c.282 p.N94K 1 HMMPfam_DUF2049 HMMPfam_DUF2049 - no_errors LOC647415 647415 genome.wustl.edu 36 7 6931827 6931827 + RNA SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 6931827 6931827 C A SNP LOC647415 XR_037564 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene AUTS2 26053 genome.wustl.edu 36 7 69866088 69866088 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 69866088 69866088 G A SNP AUTS2 NM_015570 human genbank 54_36p 1 validated missense c.1039 p.E347K 0.71 NULL NULL - no_errors AUTS2 26053 genome.wustl.edu 36 7 69867749 69867749 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 69867749 69867749 G A SNP AUTS2 NM_015570 human genbank 54_36p 1 validated silent c.1290 p.P430 0.09 NULL NULL - no_errors WBSCR17 64409 genome.wustl.edu 36 7 70772925 70772925 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 70772925 70772925 A C SNP WBSCR17 NM_022479 human genbank 54_36p 1 reviewed missense c.1299 p.E433D 0.99 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors GTF2IRD2P1 401375 genome.wustl.edu 36 7 72296263 72296263 + RNA SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 72296263 72296263 G A SNP GTF2IRD2P NR_002164 human genbank 54_36p -1 provisional rna NULL NULL 0.93 - - - pseudogene BAZ1B 9031 genome.wustl.edu 36 7 72515339 72515339 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 72515339 72515339 T C SNP BAZ1B NM_032408 human genbank 54_36p -1 reviewed missense c.3098 p.H1033R 1 NULL "HMMPfam_WAC_Acf1_DNA_bd,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors ELN 2006 genome.wustl.edu 36 7 73112446 73112446 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 73112446 73112446 G A SNP ELN ENST00000380562 human ensembl 54_36p 1 known missense c.1540 p.A514T 0.34 NULL NULL - no_stop_codon LIMK1 3984 genome.wustl.edu 36 7 73158455 73158455 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 73158455 73158455 C A SNP LIMK1 NM_002314 human genbank 54_36p 1 reviewed missense c.827 p.P276Q 0.27 NULL ############################################################################################################################################################################################################################################################### - no_errors GTF2IRD1 9569 genome.wustl.edu 36 7 73582032 73582032 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 73582032 73582032 G A SNP GTF2IRD1 NM_016328 human genbank 54_36p 1 reviewed missense c.1123 p.V375M 1 HMMPfam_GTF2I HMMPfam_GTF2I - no_errors GTF2IRD2 84163 genome.wustl.edu 36 7 73849400 73849400 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 73849400 73849400 G C SNP GTF2IRD2 NM_173537 human genbank 54_36p -1 validated missense c.2387 p.T796S 0.99 NULL HMMPfam_GTF2I - no_errors GTF2IRD2B 389524 genome.wustl.edu 36 7 74201689 74201689 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7 74201689 74201689 G A SNP GTF2IRD2B NM_001003795 human genbank 54_36p 1 reviewed silent c.1500 p.S500 0.02 NULL HMMPfam_GTF2I - no_errors GTF2IRD2B 389524 genome.wustl.edu 36 7 74202557 74202557 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 74202557 74202557 A G SNP GTF2IRD2B NM_001003795 human genbank 54_36p 1 reviewed missense c.2368 p.K790E 0.93 NULL HMMPfam_GTF2I - no_errors DTX2 113878 genome.wustl.edu 36 7 75949844 75949844 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 75949844 75949844 G T SNP DTX2 NM_001102594 human genbank 54_36p 1 validated missense c.352 p.D118Y 1 "HMMPfam_WWE,HMMSmart_SM00678" "HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors CCDC146 57639 genome.wustl.edu 36 7 76741878 76741878 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 76741878 76741878 A C SNP CCDC146 NM_020879 human genbank 54_36p 1 validated missense c.1413 p.Q471H 1 NULL NULL - no_errors PHTF2 57157 genome.wustl.edu 36 7 77389987 77389987 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 77389987 77389987 C T SNP PHTF2 NM_020432 human genbank 54_36p 1 validated missense c.1075 p.R359W 1 NULL NULL - no_errors MAGI2 9863 genome.wustl.edu 36 7 77723362 77723362 + Silent SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 77723362 77723362 C G SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed silent c.1881 p.R627 1 "superfamily_PDZ domain-like,HMMSmart_SM00228" ############################################################################################################################################################################################################################################################### - no_errors MAGI2 9863 genome.wustl.edu 36 7 77723397 77723397 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 77723397 77723397 C G SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed missense c.1846 p.G616R 1 "HMMSmart_SM00228,superfamily_PDZ domain-like" ############################################################################################################################################################################################################################################################### - no_errors GNAT3 346562 genome.wustl.edu 36 7 79926023 79926023 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 79926023 79926023 T A SNP GNAT3 NM_001102386 human genbank 54_36p -1 provisional missense c.965 p.H322L 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" - no_errors CD36 948 genome.wustl.edu 36 7 80141354 80141354 + Silent SNP T T C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 80141354 80141354 T C SNP CD36 NM_000072 human genbank 54_36p 1 reviewed silent c.1374 p.A458 1 NULL HMMPfam_CD36 - no_errors SEMA3C 10512 genome.wustl.edu 36 7 80270014 80270014 + Silent SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 80270014 80270014 C G SNP SEMA3C NM_006379 human genbank 54_36p -1 validated silent c.819 p.L273 1 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG" - no_errors HGF 3082 genome.wustl.edu 36 7 81174600 81174600 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 81174600 81174600 C A SNP HGF NM_000601 human genbank 54_36p -1 reviewed nonsense c.1558 p.G520* 1 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" "HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,HMMSmart_SM00473,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" - no_errors CACNA2D1 781 genome.wustl.edu 36 7 81437180 81437180 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 81437180 81437180 C G SNP CACNA2D1 NM_000722 human genbank 54_36p -1 reviewed missense c.2261 p.R754T 1 NULL "HMMPfam_VWA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2" - no_errors PCLO 27445 genome.wustl.edu 36 7 82384027 82384027 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 82384027 82384027 T A SNP PCLO NM_033026 human genbank 54_36p -1 validated missense c.11211 p.Q3737H 1 NULL "superfamily_FYVE/PHD zinc finger,HMMPfam_zf-piccolo,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors PCLO 27445 genome.wustl.edu 36 7 82602493 82602493 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 82602493 82602493 G T SNP PCLO NM_033026 human genbank 54_36p -1 validated nonsense c.2309 p.S770* 0.01 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_zf-piccolo,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors PCLO 27445 genome.wustl.edu 36 7 82622189 82622189 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 82622189 82622189 C T SNP PCLO NM_033026 human genbank 54_36p -1 validated silent c.1704 p.Q568 0.03 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_zf-piccolo,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors SEMA3D 223117 genome.wustl.edu 36 7 84482414 84482414 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 84482414 84482414 A G SNP SEMA3D NM_152754 human genbank 54_36p -1 validated missense c.1600 p.C534R 1 "superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" - no_errors SEMA3D 223117 genome.wustl.edu 36 7 84489662 84489662 + Silent SNP A A G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 84489662 84489662 A G SNP SEMA3D NM_152754 human genbank 54_36p -1 validated silent c.1395 p.D465 1 "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema" "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_IG,HMMSmart_PSI,HMMPfam_V-set,superfamily_Plexin-like_fold,superfamily_SSF48726" - no_errors GRM3 2913 genome.wustl.edu 36 7 86306252 86306252 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 86306252 86306252 T A SNP GRM3 NM_000840 human genbank 54_36p 1 reviewed missense c.1486 p.S496T 0.64 superfamily_Periplasmic binding protein-like I "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GRM3 2913 genome.wustl.edu 36 7 86306689 86306689 + Silent SNP T T C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 86306689 86306689 T C SNP GRM3 NM_000840 human genbank 54_36p 1 reviewed silent c.1923 p.C641 0.49 HMMPfam_7tm_3 "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I" - no_errors ABCB4 5244 genome.wustl.edu 36 7 86870405 86870405 + Silent SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 86870405 86870405 C T SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed silent c.3636 p.L1212 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB4 5244 genome.wustl.edu 36 7 86873648 86873648 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 86873648 86873648 A C SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed missense c.3399 p.I1133M 1 "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCB4 5244 genome.wustl.edu 36 7 86906923 86906923 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 86906923 86906923 T C SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed missense c.1727 p.D576G 1 "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors C7orf62 219557 genome.wustl.edu 36 7 88261851 88261851 + Silent SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 88261851 88261851 A G SNP MGC26647 NM_152706 human genbank 54_36p -1 predicted silent c.342 p.Y114 0 NULL NULL - no_errors STEAP2 261729 genome.wustl.edu 36 7 89697188 89697188 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 89697188 89697188 T A SNP STEAP2 NM_001040665 human genbank 54_36p 1 reviewed missense c.1087 p.F363I 1 HMMPfam_Ferric_reduct "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_F420_oxidored,HMMPfam_Ferric_reduct" - no_errors AKAP9 10142 genome.wustl.edu 36 7 91479846 91479846 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 91479846 91479846 G C SNP AKAP9 NM_005751 human genbank 54_36p 1 reviewed missense c.3486 p.Q1162H 1 NULL "PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil" - no_errors AKAP9 10142 genome.wustl.edu 36 7 91560442 91560442 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 91560442 91560442 G T SNP AKAP9 NM_005751 human genbank 54_36p 1 reviewed nonsense c.9454 p.E3152* 1 NULL "PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil" - no_errors KRIT1 889 genome.wustl.edu 36 7 91681222 91681222 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 91681222 91681222 T C SNP KRIT1 NM_004912 human genbank 54_36p -1 validated missense c.1738 p.N580D 1 "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" - no_errors SAMD9 54809 genome.wustl.edu 36 7 92570228 92570228 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92570228 92570228 C A SNP SAMD9 NM_017654 human genbank 54_36p -1 validated missense c.3119 p.R1040L 0.96 NULL "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors SAMD9 54809 genome.wustl.edu 36 7 92571396 92571396 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92571396 92571396 C A SNP SAMD9 NM_017654 human genbank 54_36p -1 validated missense c.1951 p.A651S 0.14 NULL "HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology" - no_errors SAMD9L 219285 genome.wustl.edu 36 7 92599291 92599291 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92599291 92599291 C T SNP SAMD9L NM_152703 human genbank 54_36p -1 validated silent c.3930 p.L1310 0 NULL superfamily_SAM/Pointed domain - no_errors HEPACAM2 253012 genome.wustl.edu 36 7 92682651 92682651 + Nonsense_Mutation SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92682651 92682651 A T SNP HEPACAM2 NM_001039372 human genbank 54_36p -1 provisional nonsense c.714 p.Y238* 0.97 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408" - no_errors CCDC132 55610 genome.wustl.edu 36 7 92823274 92823274 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92823274 92823274 T G SNP CCDC132 NM_017667 human genbank 54_36p 1 validated missense c.2721 p.I907M 1 HMMPfam_DUF2451 "HMMPfam_DUF2450,HMMPfam_DUF2451" - no_errors CALCR 799 genome.wustl.edu 36 7 92893814 92893814 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92893814 92893814 T A SNP CALCR NM_001742 human genbank 54_36p -1 validated missense c.1215 p.Q405H 0.95 superfamily_SSF81321 "superfamily_SSF111418,superfamily_SSF81321,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors COL1A2 1278 genome.wustl.edu 36 7 93892885 93892885 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 93892885 93892885 G A SNP COL1A2 NM_000089 human genbank 54_36p 1 reviewed missense c.2809 p.G937S 1 HMMPfam_Collagen "HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors CASD1 64921 genome.wustl.edu 36 7 94005092 94005092 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 94005092 94005092 A G SNP CASD1 NM_022900 human genbank 54_36p 1 validated missense c.1216 p.I406V 1 HMMPfam_Cas1p "superfamily_Cyclin_like,HMMPfam_Cas1p" - no_errors CASD1 64921 genome.wustl.edu 36 7 94006277 94006277 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 94006277 94006277 G C SNP CASD1 NM_022900 human genbank 54_36p 1 validated missense c.1329 p.L443F 1 HMMPfam_Cas1p "superfamily_Cyclin_like,HMMPfam_Cas1p" - no_errors DYNC1I1 1780 genome.wustl.edu 36 7 95280548 95280548 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 95280548 95280548 G T SNP DYNC1I1 NM_004411 human genbank 54_36p 1 validated nonsense c.328 p.G110* 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DYNC1I1 1780 genome.wustl.edu 36 7 95280563 95280563 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 95280563 95280563 G A SNP DYNC1I1 NM_004411 human genbank 54_36p 1 validated missense c.343 p.G115S 0.99 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors DYNC1I1 1780 genome.wustl.edu 36 7 95543440 95543440 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 95543440 95543440 A C SNP DYNC1I1 NM_004411 human genbank 54_36p 1 validated missense c.1696 p.T566P 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors ASNS 440 genome.wustl.edu 36 7 97320320 97320320 + Nonsense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 97320320 97320320 G C SNP ASNS NM_001673 human genbank 54_36p -1 reviewed nonsense c.1464 p.Y488* 0.86 superfamily_SSF52402 "superfamily_SSF56235,HMMPfam_GATase_2,superfamily_SSF52402,HMMPfam_Asn_synthase" - no_errors ASNS 440 genome.wustl.edu 36 7 97336247 97336247 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 97336247 97336247 A G SNP ASNS NM_001673 human genbank 54_36p -1 reviewed missense c.158 p.V53A 1 superfamily_SSF56235 "HMMPfam_GATase_2,HMMPfam_Asn_synthase,superfamily_SSF52402,superfamily_SSF56235" - no_errors LMTK2 22853 genome.wustl.edu 36 7 97671325 97671325 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 97671325 97671325 G A SNP LMTK2 NM_014916 human genbank 54_36p 1 validated silent c.4374 p.T1458 0.01 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors TRRAP 8295 genome.wustl.edu 36 7 98391707 98391707 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 98391707 98391707 G A SNP TRRAP NM_003496 human genbank 54_36p 1 validated silent c.5865 p.V1955 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC" - no_errors TRRAP 8295 genome.wustl.edu 36 7 98419049 98419049 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 98419049 98419049 C T SNP TRRAP ENST00000359863 human ensembl 54_36p 1 known missense c.9032 p.S3011L 1 "HMMPfam_FAT,superfamily_ARM repeat" "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_COPPER_BLUE,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" - no_errors TRRAP 8295 genome.wustl.edu 36 7 98430214 98430214 + Silent SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 98430214 98430214 G T SNP TRRAP NM_003496 human genbank 54_36p 1 validated silent c.9987 p.V3329 1 superfamily_ARM repeat "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_COPPER_BLUE,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like" - no_errors TRRAP 8295 genome.wustl.edu 36 7 98439826 98439826 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 98439826 98439826 G C SNP TRRAP NM_003496 human genbank 54_36p 1 validated missense c.10258 p.E3420Q 1 "superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_COPPER_BLUE,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like" - no_errors ARPC1A 10552 genome.wustl.edu 36 7 98779896 98779896 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 98779896 98779896 G A SNP ARPC1A NM_006409 human genbank 54_36p 1 reviewed missense c.214 p.A72T 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors PTCD1 26024 genome.wustl.edu 36 7 98870415 98870415 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 98870415 98870415 C A SNP PTCD1 NM_015545 human genbank 54_36p -1 validated missense c.387 p.W129C 0.84 NULL HMMPfam_PPR - no_errors ZNF498 221785 genome.wustl.edu 36 7 99056982 99056982 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99056982 99056982 C T SNP ZNF498 NM_145115 human genbank 54_36p 1 validated silent c.438 p.G146 0.01 HMMSmart_SM00431 "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF498 221785 genome.wustl.edu 36 7 99065292 99065292 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99065292 99065292 C G SNP ZNF498 NM_145115 human genbank 54_36p 1 validated missense c.1348 p.R450G 0.22 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CYP3A7 1551 genome.wustl.edu 36 7 99152771 99152771 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99152771 99152771 C T SNP CYP3A7 NM_000765 human genbank 54_36p -1 reviewed silent c.486 p.R162 0 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP3A4 1576 genome.wustl.edu 36 7 99199567 99199567 + Silent SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99199567 99199567 G A SNP CYP3A4 NM_017460 human genbank 54_36p -1 reviewed silent c.873 p.S291 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP3A43 64816 genome.wustl.edu 36 7 99295550 99295550 + Splice_Site SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99295550 99295550 G T SNP CYP3A43 NM_022820 human genbank 54_36p 1 reviewed splice_site c.1026+1 e10+1 1 - - - no_errors TRIM4 89122 genome.wustl.edu 36 7 99327849 99327849 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99327849 99327849 A G SNP TRIM4 NM_033017 human genbank 54_36p -1 reviewed missense c.1376 p.F459S 1 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors ZKSCAN1 7586 genome.wustl.edu 36 7 99459864 99459864 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99459864 99459864 G A SNP ZKSCAN1 NM_003439 human genbank 54_36p 1 validated missense c.578 p.R193Q 0.55 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZKSCAN1 7586 genome.wustl.edu 36 7 99465904 99465904 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99465904 99465904 C G SNP ZKSCAN1 NM_003439 human genbank 54_36p 1 validated missense c.769 p.Q257E 1 "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZSCAN21 7589 genome.wustl.edu 36 7 99499348 99499348 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99499348 99499348 T A SNP ZSCAN21 NM_145914 human genbank 54_36p 1 validated missense c.594 p.D198E 0.28 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZSCAN21 7589 genome.wustl.edu 36 7 99499717 99499717 + Silent SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99499717 99499717 C G SNP ZSCAN21 NM_145914 human genbank 54_36p 1 validated silent c.963 p.T321 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors TAF6 6878 genome.wustl.edu 36 7 99547786 99547786 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99547786 99547786 G T SNP TAF6 NM_005641 human genbank 54_36p -1 reviewed missense c.601 p.L201M 0.84 NULL "superfamily_Histone-fold,HMMPfam_TAF,HMMSmart_SM00803,HMMPfam_DUF1546" - no_errors GAL3ST4 79690 genome.wustl.edu 36 7 99595714 99595714 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99595714 99595714 C A SNP GAL3ST4 NM_024637 human genbank 54_36p -1 reviewed nonsense c.1234 p.E412* 0.12 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors GAL3ST4 79690 genome.wustl.edu 36 7 99595895 99595895 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99595895 99595895 C A SNP GAL3ST4 NM_024637 human genbank 54_36p -1 reviewed missense c.1053 p.E351D 0.21 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors STAG3 10734 genome.wustl.edu 36 7 99634112 99634112 + Silent SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99634112 99634112 C A SNP STAG3 NM_012447 human genbank 54_36p 1 validated silent c.1323 p.A441 0.02 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_STAG" - no_errors STAG3 10734 genome.wustl.edu 36 7 99636423 99636423 + Silent SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99636423 99636423 C T SNP STAG3 NM_012447 human genbank 54_36p 1 validated silent c.1956 p.L652 1 superfamily_ARM repeat "HMMPfam_STAG,superfamily_ARM repeat" - no_errors C7orf47 221908 genome.wustl.edu 36 7 99870998 99870998 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 99870998 99870998 G C SNP C7orf47 NM_145030 human genbank 54_36p -1 predicted missense c.683 p.P228R 0 NULL NULL - no_errors LOC100131257 100131257 genome.wustl.edu 36 7 7085167 7085167 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 7085167 7085167 C A SNP LOC100131257 XM_001716696 human genbank 54_36p -1 model nonsense c.562 p.E188* 0.09 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC100129960 100129960 genome.wustl.edu 36 8 71017903 71017903 + RNA SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 71017903 71017903 A T SNP LOC100129960 XR_037318 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000188463 0 genome.wustl.edu 36 7 71923895 71923895 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 71923895 71923895 C A SNP ENSG00000188463 ENST00000389196 human ensembl 54_36p -1 known missense c.237 p.E79D 1 "HMMPfam_Flavodoxin_1,superfamily_SSF52218" "HMMPfam_Flavodoxin_1,superfamily_SSF52218" - no_errors SPDYE7P 441251 genome.wustl.edu 36 7 71977242 71977242 + RNA SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 71977242 71977242 T G SNP SPDYE7P NR_003666 human genbank 54_36p -1 provisional rna NULL NULL 0.05 - - - pseudogene DNM1P33 554175 genome.wustl.edu 36 15 72143103 72143103 + Silent SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72143103 72143103 G A SNP DNM1P33 ENST00000339692 human ensembl 54_36p 1 known silent c.228 p.S76 0.99 HMMPfam_GED HMMPfam_GED - no_errors LOC100132353 100132353 genome.wustl.edu 36 1 72513279 72513279 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 72513279 72513279 G T SNP LOC100132353 XM_001719317 human genbank 54_36p 1 model nonsense c.334 p.E112* 1 "HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain" "HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain,superfamily_FAD/NAD(P)-binding domain" - no_errors ENSG00000214331 0 genome.wustl.edu 36 16 72943457 72943457 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 72943457 72943457 T C SNP ENSG00000214331 ENST00000398122 human ensembl 54_36p -1 known missense c.586 p.S196G 1 "superfamily_SSF51905,HMMPfam_DAO" "superfamily_SSF51905,HMMPfam_DAO" - no_stop_codon LOC100133180 100133180 genome.wustl.edu 36 X 73267986 73267986 + RNA SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 73267986 73267986 C T SNP LOC100133180 XR_037576 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene DNM1P34 729809 genome.wustl.edu 36 15 73381109 73381109 + Silent SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73381109 73381109 C T SNP DNM1P34 ENST00000404411 human ensembl 54_36p -1 known silent c.228 p.S76 0.99 HMMPfam_GED HMMPfam_GED - no_errors LOC100131044 100131044 genome.wustl.edu 36 10 74348227 74348227 + RNA SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74348227 74348227 C G SNP LOC100131044 XR_038799 human genbank 54_36p -1 model rna NULL NULL 0.51 - - - pseudogene LOC646127 646127 genome.wustl.edu 36 X 74464243 74464243 + RNA SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 74464243 74464243 C T SNP LOC646127 XR_037591 human genbank 54_36p -1 model rna NULL NULL 0.03 - - - pseudogene LOC100128989 100128989 genome.wustl.edu 36 X 74675133 74675133 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 74675133 74675133 G T SNP LOC100128989 XM_001716779 human genbank 54_36p -1 model missense c.80 p.T27N 1 NULL NULL - no_start_codon ENSG00000119660 0 genome.wustl.edu 36 14 74828581 74828581 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74828581 74828581 G A SNP ENSG00000119660 ENST00000238638 human ensembl 54_36p -1 known missense c.383 p.T128I 0.01 NULL NULL - no_errors ENSG00000179799 0 genome.wustl.edu 36 3 75489141 75489141 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 75489141 75489141 C G SNP ENSG00000179799 ENST00000331736 human ensembl 54_36p -1 known missense c.139 p.D47H 0.19 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors LOC100131940 100131940 genome.wustl.edu 36 4 77485101 77485101 + RNA SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 77485101 77485101 G C SNP LOC100131940 XR_037574 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC642546 642546 genome.wustl.edu 36 X 79715889 79715889 + RNA SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 79715889 79715889 G A SNP LOC642546 XR_038841 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ENSG00000215028 0 genome.wustl.edu 36 8 79836611 79836611 + Splice_Site SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 79836611 79836611 C G SNP ENSG00000215028 ENST00000399463 human ensembl 54_36p -1 novel splice_site c.NULL NULL 1 - - - no_coding_region:pseudogene VPS13B 157680 genome.wustl.edu 36 8 100197249 100197249 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 100197249 100197249 A G SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.908 p.H303R 0.05 NULL PatternScan_ZINC_PROTEASE - no_errors VPS13B 157680 genome.wustl.edu 36 8 100356530 100356530 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 100356530 100356530 C A SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.2696 p.S899Y 1 NULL PatternScan_ZINC_PROTEASE - no_errors VPS13B 157680 genome.wustl.edu 36 8 100548939 100548939 + Silent SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 100548939 100548939 T A SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed silent c.3567 p.S1189 1 NULL PatternScan_ZINC_PROTEASE - no_errors RGS22 26166 genome.wustl.edu 36 8 101186797 101186797 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 101186797 101186797 G A SNP RGS22 NM_015668 human genbank 54_36p -1 validated missense c.35 p.T12I 0.34 NULL "superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315,HMMPfam_RGS" - no_errors SPAG1 6674 genome.wustl.edu 36 8 101306630 101306630 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 101306630 101306630 C A SNP SPAG1 NM_003114 human genbank 54_36p 1 reviewed nonsense c.1742 p.S581* 0.9 superfamily_Protein prenylyltransferase "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_Protein prenylyltransferase" - no_errors RNF19A 25897 genome.wustl.edu 36 8 101369047 101369047 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 101369047 101369047 C T SNP RNF19A NM_015435 human genbank 54_36p -1 reviewed missense c.532 p.E178K 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_IBR,HMMSmart_SM00647" - no_errors ZNF706 51123 genome.wustl.edu 36 8 102283023 102283023 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 102283023 102283023 G T SNP ZNF706 NM_001042510 human genbank 54_36p -1 validated nonsense c.123 p.C41* 1 "HMMPfam_DUF1909,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_DUF1909,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NACAP1 83955 genome.wustl.edu 36 8 102450494 102450494 + RNA SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 102450494 102450494 G A SNP NACAP1 NR_002182 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - pseudogene NACAP1 83955 genome.wustl.edu 36 8 102450697 102450697 + RNA SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 102450697 102450697 G C SNP NACAP1 NR_002182 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - pseudogene GRHL2 79977 genome.wustl.edu 36 8 102640019 102640020 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 - - - T - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 102640019 102640020 - T INS GRHL2 NM_024915 human genbank 54_36p 1 validated frame_shift_ins c.481_482 p.E161fs 0.998:1.000 NULL HMMPfam_CP2 - no_errors GRHL2 79977 genome.wustl.edu 36 8 102701076 102701076 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 102701076 102701076 G T SNP GRHL2 NM_024915 human genbank 54_36p 1 validated missense c.1232 p.C411F 1 HMMPfam_CP2 HMMPfam_CP2 - no_errors RRM2B 50484 genome.wustl.edu 36 8 103305502 103305502 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 103305502 103305502 C G SNP RRM2B NM_015713 human genbank 54_36p -1 validated missense c.498 p.K166N 1 "superfamily_Ferritin-like,HMMPfam_Ribonuc_red_sm" "superfamily_Ferritin-like,HMMPfam_Ribonuc_red_sm,PatternScan_RIBORED_SMALL" - no_errors ODF1 4956 genome.wustl.edu 36 8 103633145 103633145 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 103633145 103633145 G C SNP ODF1 NM_024410 human genbank 54_36p 1 reviewed missense c.14 p.S5T 1 NULL superfamily_HSP20_chap - no_errors PRSS55 203074 genome.wustl.edu 36 8 10424530 10424530 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 10424530 10424530 G T SNP UNQ9391 NM_198464 human genbank 54_36p 1 validated missense c.258 p.Q86H 0.98 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors SLC25A32 81034 genome.wustl.edu 36 8 104489040 104489040 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 104489040 104489040 G T SNP SLC25A32 NM_030780 human genbank 54_36p -1 validated missense c.303 p.F101L 1 "HMMPfam_Mito_carr,superfamily_Mitoch_carrier" "HMMPfam_Mito_carr,superfamily_Mitoch_carrier" - no_errors RIMS2 9699 genome.wustl.edu 36 8 104778634 104778634 + Silent SNP C C T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 104778634 104778634 C T SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated silent c.321 p.N107 1 "HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger" "HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors RP1L1 94137 genome.wustl.edu 36 8 10501913 10501913 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 10501913 10501913 C A SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.7105 p.G2369C 0 NULL "superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen" - no_errors RIMS2 9699 genome.wustl.edu 36 8 105024226 105024226 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 105024226 105024226 A C SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated missense c.2597 p.Y866S 1 "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_RPH3A_effector,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors RP1L1 94137 genome.wustl.edu 36 8 10504290 10504290 + Silent SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 10504290 10504290 G T SNP RP1L1 NM_178857 human genbank 54_36p -1 validated silent c.4728 p.L1576 0.03 NULL "HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837" - no_errors RIMS2 9699 genome.wustl.edu 36 8 105079642 105079642 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 105079642 105079642 A T SNP RIMS2 NM_014677 human genbank 54_36p 1 validated missense c.2474 p.H825L 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors RIMS2 9699 genome.wustl.edu 36 8 105094889 105094889 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 105094889 105094889 T G SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated missense c.3088 p.S1030A 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_RPH3A_effector,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors RP1L1 94137 genome.wustl.edu 36 8 10518051 10518051 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 10518051 10518051 G T SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.71 p.T24N 0 superfamily_SSF89837 "HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837" - no_errors DPYS 1807 genome.wustl.edu 36 8 105528874 105528874 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 105528874 105528874 T C SNP DPYS NM_001385 human genbank 54_36p -1 reviewed missense c.457 p.K153E 0.99 "HMMPfam_Amidohydro_1,superfamily_SSF51556" "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" - no_errors ZFPM2 23414 genome.wustl.edu 36 8 106525714 106525714 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 106525714 106525714 A G SNP ZFPM2 NM_012082 human genbank 54_36p 1 reviewed missense c.230 p.E77G 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFPM2 23414 genome.wustl.edu 36 8 106883918 106883925 + Frame_Shift_Del DEL TTTCCAAA TTTCCAAA - novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 TTTCCAAA TTTCCAAA TTTCCAAA - TTTCCAAA TTTCCAAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 106883918 106883925 TTTCCAAA - DEL ZFPM2 NM_012082 human genbank 54_36p 1 reviewed frame_shift_del c.2432_2439 p.S812fs 0.779:0.770:0.870:0.976:0.980:1.000:1.000:0.999 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "(deletion:cds_exon[106882451,106884942])" no_errors ABRA 137735 genome.wustl.edu 36 8 107842709 107842709 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 107842709 107842709 G T SNP ABRA NM_139166 human genbank 54_36p -1 validated missense c.878 p.T293N 1 NULL NULL - no_errors ABRA 137735 genome.wustl.edu 36 8 107851408 107851408 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 107851408 107851408 G T SNP ABRA NM_139166 human genbank 54_36p -1 validated missense c.187 p.P63T 0 NULL NULL - no_errors ANGPT1 284 genome.wustl.edu 36 8 108384722 108384723 + Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 - - - TT - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 108384722 108384723 - TT INS ANGPT1 NM_001146 human genbank 54_36p -1 reviewed frame_shift_ins c.858_857 p.C286fs 1.000:1.000 "HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_Fibrinogen_C" "HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors ANGPT1 284 genome.wustl.edu 36 8 108403533 108403533 + Splice_Site SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 108403533 108403533 C T SNP ANGPT1 NM_001146 human genbank 54_36p -1 reviewed splice_site c.576-1 e4-1 1 - - - no_errors ANGPT1 284 genome.wustl.edu 36 8 108417653 108417653 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 108417653 108417653 A G SNP ANGPT1 NM_001146 human genbank 54_36p -1 reviewed missense c.476 p.L159P 1 NULL "HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like" - no_errors RSPO2 340419 genome.wustl.edu 36 8 109039658 109039658 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 109039658 109039658 C T SNP RSPO2 NM_178565 human genbank 54_36p -1 validated missense c.442 p.G148S 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209" "superfamily_Growth factor receptor domain,HMMSmart_SM00261,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209" - no_errors RSPO2 340419 genome.wustl.edu 36 8 109070506 109070506 + Silent SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 109070506 109070506 T A SNP RSPO2 NM_178565 human genbank 54_36p -1 validated silent c.237 p.P79 0.99 "HMMSmart_SM00261,superfamily_Growth factor receptor domain" "HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00261,superfamily_Growth factor receptor domain" - no_errors EIF3E 3646 genome.wustl.edu 36 8 109310490 109310490 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 109310490 109310490 C G SNP EIF3E NM_001568 human genbank 54_36p -1 validated missense c.582 p.E194D 1 NULL "HMMPfam_eIF3_N,HMMPfam_PCI,HMMSmart_SM00088,superfamily_Winged helix DNA-binding domain" - no_errors TMEM74 157753 genome.wustl.edu 36 8 109865647 109865647 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 109865647 109865647 G T SNP TMEM74 NM_153015 human genbank 54_36p -1 provisional missense c.857 p.T286K 0.01 NULL NULL - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110522219 110522219 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 110522219 110522219 G C SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated missense c.4061 p.G1354A 1 "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like" - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110526919 110526919 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 110526919 110526919 G A SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated missense c.5645 p.C1882Y 0.91 "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110599579 110599579 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C - C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 110599579 110599579 C - DEL PKHD1L1 NM_177531 human genbank 54_36p 1 validated frame_shift_del c.11697 p.L3900fs 0.53 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" "(deletion:cds_exon[110599572,110599913])" no_errors SYBU 55638 genome.wustl.edu 36 8 110656324 110656324 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 110656324 110656324 C T SNP GOLSYN NM_001099744 human genbank 54_36p -1 validated missense c.1979 p.R660H 0.75 NULL NULL - no_errors TRPS1 7227 genome.wustl.edu 36 8 116495950 116495950 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 116495950 116495950 G C SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.3362 p.A1121G 1 NULL "HMMSmart_ZnF_C2H2,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors SLC30A8 169026 genome.wustl.edu 36 8 118253979 118253979 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 118253979 118253979 G C SNP SLC30A8 NM_173851 human genbank 54_36p 1 validated missense c.988 p.V330L 0.07 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors EXT1 2131 genome.wustl.edu 36 8 118894310 118894310 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 118894310 118894310 C T SNP EXT1 NM_000127 human genbank 54_36p -1 reviewed silent c.1704 p.T568 0.38 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64" "HMMPfam_Exostosin,superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64" - no_errors MAL2 114569 genome.wustl.edu 36 8 120321660 120321660 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 120321660 120321660 G C SNP MAL2 NM_052886 human genbank 54_36p 1 reviewed missense c.379 p.A127P 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NOV 4856 genome.wustl.edu 36 8 120499691 120499691 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 120499691 120499691 C G SNP NOV NM_002514 human genbank 54_36p 1 reviewed missense c.523 p.P175A 0.26 NULL "HMMSmart_IB,HMMPfam_IGFBP,PatternScan_IGFBP_N_1,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_Cys_knot,HMMSmart_CT,PatternScan_CTCK_1" - no_errors NOV 4856 genome.wustl.edu 36 8 120504343 120504343 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 120504343 120504343 G C SNP NOV NM_002514 human genbank 54_36p 1 reviewed missense c.864 p.K288N 1 "HMMSmart_CT,HMMPfam_Cys_knot" "HMMPfam_IGFBP,HMMSmart_IB,HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMSmart_CT,PatternScan_CTCK_1,HMMPfam_Cys_knot,PatternScan_IGFBP_N_1" - no_errors ENPP2 5168 genome.wustl.edu 36 8 120644337 120644337 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 120644337 120644337 G T SNP ENPP2 NM_006209 human genbank 54_36p -1 reviewed missense c.2518 p.P840T 0.93 "superfamily_His-Me finger endonucleases,HMMSmart_SM00477,HMMPfam_Endonuclease_NS" "HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477,HMMPfam_Endonuclease_NS" - no_errors COL14A1 7373 genome.wustl.edu 36 8 121306511 121306511 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 121306511 121306511 G T SNP COL14A1 NM_021110 human genbank 54_36p 1 validated nonsense c.1741 p.E581* 1 "HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors HAS2 3037 genome.wustl.edu 36 8 122695718 122695718 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 122695718 122695718 C A SNP HAS2 NM_005328 human genbank 54_36p -1 reviewed missense c.1471 p.G491C 1 NULL "superfamily_SSF53448,HMMPfam_Glycos_transf_2" - no_errors HAS2 3037 genome.wustl.edu 36 8 122710164 122710164 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 122710164 122710164 C T SNP HAS2 NM_005328 human genbank 54_36p -1 reviewed missense c.598 p.A200T 1 superfamily_SSF53448 "HMMPfam_Glycos_transf_2,superfamily_SSF53448" - no_errors HAS2 3037 genome.wustl.edu 36 8 122710319 122710319 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 122710319 122710319 C T SNP HAS2 NM_005328 human genbank 54_36p -1 reviewed nonsense c.443 p.W148* 1 superfamily_SSF53448 "HMMPfam_Glycos_transf_2,superfamily_SSF53448" - no_errors HAS2 3037 genome.wustl.edu 36 8 122710346 122710346 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 122710346 122710346 C A SNP HAS2 NM_005328 human genbank 54_36p -1 reviewed missense c.416 p.G139V 1 superfamily_SSF53448 "HMMPfam_Glycos_transf_2,superfamily_SSF53448" - no_errors LOC649352 649352 genome.wustl.edu 36 8 12281548 12281548 + RNA SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 12281548 12281548 C G SNP LOC649352 XR_042361 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene FAM83A 84985 genome.wustl.edu 36 8 124264735 124264735 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 124264735 124264735 G A SNP FAM83A NM_032899 human genbank 54_36p 1 validated missense c.458 p.R153H 1 "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors FAM83A 84985 genome.wustl.edu 36 8 124288594 124288594 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 124288594 124288594 G A SNP FAM83A NM_032899 human genbank 54_36p 1 validated missense c.790 p.G264R 1 "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors C8orf76 84933 genome.wustl.edu 36 8 124312749 124312759 + Frame_Shift_Del DEL TCAGCTGAGTC TCAGCTGAGTC - novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 TCAGCTGAGTC TCAGCTGAGTC TCAGCTGAGTC - TCAGCTGAGTC TCAGCTGAGTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 124312749 124312759 TCAGCTGAGTC - DEL C8orf76 NM_032847 human genbank 54_36p -1 predicted frame_shift_del c.787_777 p.T260fs 0.384:0.187:0.114:0.023:0.015:0.003:0.006:0.003:0.003:0.002:0.002 NULL superfamily_SSF48452 "(deletion:cds_exon[124312721,124313178])" no_errors ZHX1 11244 genome.wustl.edu 36 8 124336392 124336392 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 124336392 124336392 C A SNP ZHX1 NM_001017926 human genbank 54_36p -1 reviewed nonsense c.976 p.E326* 1 "HMMSmart_HOX,superfamily_Homeodomain_like" "PatternScan_ZINC_FINGER_C2H2_1,PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMSmart_HOX,superfamily_Homeodomain_like,HMMPfam_Homeobox" - no_errors FAM91A1 157769 genome.wustl.edu 36 8 124881019 124881019 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 124881019 124881019 C G SNP FAM91A1 NM_144963 human genbank 54_36p 1 validated missense c.1639 p.P547A 1 NULL PatternScan_PLANT_GLOBIN - no_errors FER1L6 654463 genome.wustl.edu 36 8 125058959 125058959 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 125058959 125058959 T G SNP FER1L6 NM_001039112 human genbank 54_36p 1 validated missense c.992 p.M331R 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors FER1L6 654463 genome.wustl.edu 36 8 125178770 125178770 + Silent SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 125178770 125178770 G A SNP FER1L6 NM_001039112 human genbank 54_36p 1 validated silent c.4773 p.R1591 0.9 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerB,HMMPfam_FerI" - no_errors GSDMC 56169 genome.wustl.edu 36 8 130829959 130829959 + Silent SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 130829959 130829959 G C SNP GSDMC NM_031415 human genbank 54_36p -1 validated silent c.1497 p.L499 0 NULL HMMPfam_Gasdermin - no_errors ASAP1 50807 genome.wustl.edu 36 8 131142205 131142205 + Silent SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 131142205 131142205 C G SNP ASAP1 NM_018482 human genbank 54_36p -1 validated silent c.2994 p.L998 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors ASAP1 50807 genome.wustl.edu 36 8 131193526 131193526 + Silent SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 131193526 131193526 C G SNP ASAP1 NM_018482 human genbank 54_36p -1 validated silent c.2397 p.G799 1 NULL "HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_SSF50729" - no_errors ASAP1 50807 genome.wustl.edu 36 8 131250458 131250458 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 131250458 131250458 T A SNP ASAP1 NM_018482 human genbank 54_36p -1 validated nonsense c.784 p.K262* 1 NULL "HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_SSF50729" - no_errors DLC1 10395 genome.wustl.edu 36 8 13295574 13295574 + Splice_Site SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 13295574 13295574 C T SNP DLC1 NM_182643 human genbank 54_36p -1 reviewed splice_site c.1174-1 e3-1 1 - - - no_errors EFR3A 23167 genome.wustl.edu 36 8 133026219 133026219 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133026219 133026219 G C SNP EFR3A NM_015137 human genbank 54_36p 1 validated missense c.133 p.V45L 1 NULL superfamily_ARM repeat - no_errors EFR3A 23167 genome.wustl.edu 36 8 133028010 133028010 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133028010 133028010 C T SNP EFR3A NM_015137 human genbank 54_36p 1 validated missense c.314 p.A105V 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors OC90 729330 genome.wustl.edu 36 8 133106144 133106144 + Nonsense_Mutation SNP G T T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133106144 133106144 G T SNP OC90 NM_001080399 human genbank 54_36p -1 validated nonsense c.1200 p.C400* 1 "HMMSmart_SM00085,HMMPfam_Phospholip_A2_1,superfamily_Phospholipase A2 PLA2,PatternScan_PA2_ASP" "HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2,HMMPfam_Phospholip_A2_1,PatternScan_PA2_HIS,PatternScan_PA2_ASP" - no_errors OC90 729330 genome.wustl.edu 36 8 133114486 133114486 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133114486 133114486 C A SNP OC90 NM_001080399 human genbank 54_36p -1 validated nonsense c.841 p.E281* 0 NULL "HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,PatternScan_PA2_HIS,PatternScan_PA2_ASP,superfamily_Phospholipase A2 PLA2" - no_errors KCNQ3 3786 genome.wustl.edu 36 8 133265706 133265706 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133265706 133265706 G A SNP KCNQ3 NM_004519 human genbank 54_36p -1 reviewed nonsense c.568 p.R190* 0.97 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors TMEM71 137835 genome.wustl.edu 36 8 133809389 133809389 + Silent SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133809389 133809389 C G SNP TMEM71 NM_144649 human genbank 54_36p -1 validated silent c.456 p.L152 0.01 NULL NULL - no_errors TMEM71 137835 genome.wustl.edu 36 8 133833240 133833240 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133833240 133833240 C G SNP TMEM71 NM_144649 human genbank 54_36p -1 validated missense c.287 p.S96T 1 NULL NULL - no_errors PHF20L1 51105 genome.wustl.edu 36 8 133885459 133885459 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133885459 133885459 G T SNP PHF20L1 NM_016018 human genbank 54_36p 1 validated nonsense c.721 p.G241* 1 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMSmart_SM00743,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors PHF20L1 51105 genome.wustl.edu 36 8 133921010 133921010 + Splice_Site SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 133921010 133921010 G A SNP PHF20L1 NM_016018 human genbank 54_36p 1 validated splice_site c.2387+1 e17+1 1 - - - no_errors KHDRBS3 10656 genome.wustl.edu 36 8 136688425 136688425 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 136688425 136688425 G A SNP KHDRBS3 NM_006558 human genbank 54_36p 1 provisional missense c.853 p.D285N 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors KHDRBS3 10656 genome.wustl.edu 36 8 136726510 136726510 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 136726510 136726510 A G SNP KHDRBS3 NM_006558 human genbank 54_36p 1 provisional missense c.917 p.H306R 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors FAM135B 51059 genome.wustl.edu 36 8 139214064 139214064 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 139214064 139214064 A G SNP FAM135B NM_015912 human genbank 54_36p -1 validated missense c.4175 p.F1392S 1 NULL "superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676" - no_errors FAM135B 51059 genome.wustl.edu 36 8 139222636 139222636 + Silent SNP G C C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 139222636 139222636 G C SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.3777 p.T1259 0.98 "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors FAM135B 51059 genome.wustl.edu 36 8 139233226 139233226 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 139233226 139233226 T C SNP FAM135B NM_015912 human genbank 54_36p -1 validated missense c.2674 p.R892G 0 NULL "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors FAM135B 51059 genome.wustl.edu 36 8 139249384 139249384 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 139249384 139249384 G A SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.1194 p.I398 0.99 NULL "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors COL22A1 169044 genome.wustl.edu 36 8 139728095 139728095 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 139728095 139728095 G A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.3460 p.P1154S 0 NULL "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL22A1 169044 genome.wustl.edu 36 8 139806843 139806843 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 139806843 139806843 A G SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.2162 p.V721A 0.13 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors SGCZ 137868 genome.wustl.edu 36 8 13992458 13992458 + Silent SNP A A T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 13992458 13992458 A T SNP SGCZ NM_139167 human genbank 54_36p -1 reviewed silent c.804 p.S268 0.59 HMMPfam_Sarcoglycan_1 HMMPfam_Sarcoglycan_1 - no_errors KCNK9 51305 genome.wustl.edu 36 8 140700147 140700147 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 140700147 140700147 C T SNP KCNK9 NM_016601 human genbank 54_36p -1 reviewed missense c.661 p.V221M 1 "superfamily_SSF81324,HMMPfam_Ion_trans_2" "superfamily_SSF81324,HMMPfam_Ion_trans_2" - no_errors SGCZ 137868 genome.wustl.edu 36 8 14139487 14139487 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 14139487 14139487 C T SNP SGCZ NM_139167 human genbank 54_36p -1 reviewed missense c.409 p.G137R 1 HMMPfam_Sarcoglycan_1 HMMPfam_Sarcoglycan_1 - no_errors DENND3 22898 genome.wustl.edu 36 8 142245538 142245538 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 142245538 142245538 C T SNP DENND3 NM_014957 human genbank 54_36p 1 validated missense c.1381 p.H461Y 0 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FLJ43860 389690 genome.wustl.edu 36 8 142556718 142556718 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 142556718 142556718 C T SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.1412 p.R471H 0.96 NULL "superfamily_ARM repeat,HMMPfam_HEAT" - pseudogene CYP11B1 1584 genome.wustl.edu 36 8 143957893 143957893 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 143957893 143957893 C T SNP CYP11B1 ENST00000377675 human ensembl 54_36p -1 known missense c.245 p.R82Q 0 NULL "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors CYP11B1 1584 genome.wustl.edu 36 8 143958074 143958074 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 143958074 143958074 A T SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.158 p.L53Q 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors C8orf73 642475 genome.wustl.edu 36 8 144725499 144725499 + Splice_Site SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 144725499 144725499 C G SNP C8orf73 NM_001100878 human genbank 54_36p -1 validated splice_site c.295-1 e2-1 0 - - - no_errors EEF1D 1936 genome.wustl.edu 36 8 144740128 144740128 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 144740128 144740128 T A SNP EEF1D NM_032378 human genbank 54_36p -1 reviewed missense c.1129 p.I377F 1 NULL "PatternScan_EF1BD_1,HMMPfam_EF-1_beta_acid,superfamily_eEF-1beta-like,HMMPfam_EF1_GNE,PatternScan_EF1BD_2" - no_errors PLEC 5339 genome.wustl.edu 36 8 145066072 145066072 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 145066072 145066072 C A SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed missense c.10316 p.R3439M 0.08 NULL "HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" - no_errors SHARPIN 81858 genome.wustl.edu 36 8 145225847 145225847 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 145225847 145225847 G A SNP SHARPIN ENST00000321205 human ensembl 54_36p -1 known missense c.1082 p.P361L 0.02 NULL superfamily_Ubiquitin-like - no_errors KIFC2 90990 genome.wustl.edu 36 8 145663461 145663461 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 145663461 145663461 G A SNP KIFC2 NM_145754 human genbank 54_36p 1 provisional missense c.398 p.S133N 0.08 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors ZNF7 7553 genome.wustl.edu 36 8 146033605 146033605 + Silent SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 146033605 146033605 G A SNP ZNF7 NM_003416 human genbank 54_36p 1 validated silent c.156 p.E52 1 "superfamily_Krueppel-associated_box,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF7 7553 genome.wustl.edu 36 8 146039084 146039084 + Silent SNP T T C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 146039084 146039084 T C SNP ZNF7 NM_003416 human genbank 54_36p 1 validated silent c.1788 p.L596 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF16 7564 genome.wustl.edu 36 8 146127343 146127343 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 146127343 146127343 T C SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed missense c.1634 p.Y545C 0.25 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF16 7564 genome.wustl.edu 36 8 146128591 146128591 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 146128591 146128591 G T SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed missense c.386 p.S129Y 0 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF16 7564 genome.wustl.edu 36 8 146128673 146128673 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 146128673 146128673 G A SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed nonsense c.304 p.Q102* 0.02 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors DLGAP2 9228 genome.wustl.edu 36 8 1485067 1485067 + Silent SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 1485067 1485067 C T SNP DLGAP2 NM_004745 human genbank 54_36p 1 reviewed silent c.801 p.N267 0.97 NULL HMMPfam_GKAP - no_errors MSR1 4481 genome.wustl.edu 36 8 16012099 16012099 + Splice_Site SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 16012099 16012099 C T SNP MSR1 NM_138715 human genbank 54_36p -1 reviewed splice_site c.1223-1 e9-1 1 - - - no_errors SLC7A2 6542 genome.wustl.edu 36 8 17452228 17452228 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 17452228 17452228 G C SNP SLC7A2 NM_003046 human genbank 54_36p 1 validated missense c.859 p.G287R 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors MTUS1 57509 genome.wustl.edu 36 8 17656868 17656868 + Silent SNP G A A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 17656868 17656868 G A SNP MTUS1 NM_001001924 human genbank 54_36p -1 reviewed silent c.729 p.Y243 0 NULL NULL - no_errors ARHGEF10 9639 genome.wustl.edu 36 8 1799956 1799956 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 1799956 1799956 A C SNP ARHGEF10 NM_014629 human genbank 54_36p 1 reviewed missense c.492 p.E164D 0 NULL "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS" - no_errors NAT2 10 genome.wustl.edu 36 8 18302467 18302467 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 18302467 18302467 T C SNP NAT2 NM_000015 human genbank 54_36p 1 reviewed missense c.674 p.L225S 1 "superfamily_SSF54001,HMMPfam_Acetyltransf_2" "superfamily_SSF54001,HMMPfam_Acetyltransf_2" - no_errors CSGALNACT1 55790 genome.wustl.edu 36 8 19360412 19360412 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 19360412 19360412 T C SNP CSGALNACT1 NM_018371 human genbank 54_36p -1 validated missense c.656 p.D219G 1 HMMPfam_CHGN "HMMPfam_CHGN,superfamily_SSF53448" - no_errors SLC18A1 6570 genome.wustl.edu 36 8 20082690 20082691 + Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 20082690 20082691 - T INS SLC18A1 NM_003053 human genbank 54_36p -1 validated frame_shift_ins c.66_65 p.V23fs 1.000:0.998 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors MYOM2 9172 genome.wustl.edu 36 8 2044699 2044699 + Silent SNP T T C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 2044699 2044699 T C SNP MYOM2 NM_003970 human genbank 54_36p 1 validated silent c.3150 p.I1050 0.88 NULL "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2" - no_errors HR 55806 genome.wustl.edu 36 8 22037258 22037258 + Silent SNP G A A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 22037258 22037258 G A SNP HR NM_005144 human genbank 54_36p -1 reviewed silent c.1764 p.A588 0 NULL "HMMSmart_SM00558,HMMPfam_JmjC" - no_errors PPP3CC 5533 genome.wustl.edu 36 8 22436177 22436177 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 22436177 22436177 C T SNP PPP3CC NM_005605 human genbank 54_36p 1 provisional missense c.913 p.P305S 1 "superfamily_SSF56300,HMMSmart_PP2Ac" "superfamily_SSF56300,HMMSmart_PP2Ac,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE" - no_errors LOXL2 4017 genome.wustl.edu 36 8 23273616 23273616 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 23273616 23273616 C T SNP LOXL2 NM_002318 human genbank 54_36p -1 reviewed missense c.463 p.G155S 1 "superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR" "superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE" - no_errors DOCK5 80005 genome.wustl.edu 36 8 25192019 25192019 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 25192019 25192019 T C SNP DOCK5 NM_024940 human genbank 54_36p 1 validated missense c.242 p.I81T 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors EBF2 64641 genome.wustl.edu 36 8 25800201 25800201 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 25800201 25800201 C A SNP EBF2 NM_022659 human genbank 54_36p -1 validated missense c.996 p.R332S 1 "HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG" "PatternScan_COE,HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG,HMMSmart_HLH" - no_errors EBF2 64641 genome.wustl.edu 36 8 25955570 25955570 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 25955570 25955570 C A SNP EBF2 NM_022659 human genbank 54_36p -1 validated missense c.246 p.E82D 1 NULL "HMMSmart_HLH,HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set,PatternScan_COE" - no_errors ADRA1A 148 genome.wustl.edu 36 8 26777636 26777636 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 26777636 26777636 G C SNP ADRA1A NM_033303 human genbank 54_36p -1 reviewed missense c.768 p.H256Q 0.99 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CHRNA2 1135 genome.wustl.edu 36 8 27383308 27383308 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 27383308 27383308 G A SNP CHRNA2 NM_000742 human genbank 54_36p -1 validated missense c.181 p.R61W 0.98 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors EPHX2 2053 genome.wustl.edu 36 8 27425322 27425322 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 27425322 27425322 G C SNP EPHX2 NM_001979 human genbank 54_36p 1 reviewed missense c.713 p.S238T 0.21 superfamily_SSF53474 "HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF53474,HMMPfam_Abhydrolase_1" - no_errors CLU 1191 genome.wustl.edu 36 8 27518595 27518595 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 27518595 27518595 G A SNP CLU NM_001831 human genbank 54_36p -1 validated missense c.748 p.R250W 0 "HMMPfam_Clusterin,HMMSmart_CLb" "HMMPfam_Clusterin,HMMSmart_CLb,PatternScan_CLUSTERIN_1,HMMSmart_CLa,PatternScan_CLUSTERIN_2" - no_errors C8orf80 389643 genome.wustl.edu 36 8 27943808 27943808 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 27943808 27943808 T A SNP C8orf80 NM_001010906 human genbank 54_36p -1 predicted missense c.1955 p.K652M 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CSMD1 64478 genome.wustl.edu 36 8 2802658 2802658 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 2802658 2802658 A T SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.9785 p.F3262Y 0.99 NULL "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 64478 genome.wustl.edu 36 8 2807451 2807451 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 2807451 2807451 G C SNP CSMD1 ENST00000335551 human ensembl 54_36p -1 known missense c.8033 p.S2678C 0.24 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_start_codon CSMD1 64478 genome.wustl.edu 36 8 2863527 2863531 + Frame_Shift_Del DEL CGTTC CGTTC - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 CGTTC CGTTC CGTTC - CGTTC CGTTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 2863527 2863531 CGTTC - DEL CSMD1 NM_033225 human genbank 54_36p -1 validated frame_shift_del c.7912_7908 p.W2636fs 0.105:0.991:0.991:0.855:1.000 NULL "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" "(deletion:cds_exon[2863406,2863579])" pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 64478 genome.wustl.edu 36 8 2951467 2951467 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 2951467 2951467 T A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.6943 p.N2315Y 0.07 NULL "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region RBPMS 11030 genome.wustl.edu 36 8 30451842 30451842 + Silent SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 30451842 30451842 G C SNP RBPMS NM_001008712 human genbank 54_36p 1 reviewed silent c.72 p.R24 1 superfamily_SSF54928 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors GSR 2936 genome.wustl.edu 36 8 30686962 30686962 + Splice_Site DEL C - C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C - C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 8 30686962 30686962 C - DEL GSR NM_000637 human genbank 54_36p -1 validated splice_site_del c.334-1 e3-1 1 - - "(deletion:intron[30686962,30689120])" no_errors TEX15 56154 genome.wustl.edu 36 8 30821929 30821929 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 30821929 30821929 G A SNP TEX15 NM_031271 human genbank 54_36p -1 validated missense c.4147 p.L1383F 0 NULL NULL - no_errors WRN 7486 genome.wustl.edu 36 8 31068951 31068951 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 31068951 31068951 T G SNP WRN NM_000553 human genbank 54_36p 1 reviewed missense c.1893 p.I631M 0.59 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "HMMSmart_SM00474,HMMPfam_3_5_exonuc,superfamily_Ribonuclease H-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_RQC,HMMSmart_SM00341,HMMPfam_HRDC" - no_errors CSMD1 64478 genome.wustl.edu 36 8 3204122 3204122 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 3204122 3204122 C T SNP CSMD1 NM_033225 human genbank 54_36p -1 validated nonsense c.3267 p.W1089* 1 NULL "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 64478 genome.wustl.edu 36 8 3254480 3254480 + Silent SNP C C G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 3254480 3254480 C G SNP CSMD1 NM_033225 human genbank 54_36p -1 validated silent c.1620 p.T540 0.01 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NRG1 3084 genome.wustl.edu 36 8 32625179 32625179 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 32625179 32625179 G T SNP NRG1 NM_013959 human genbank 54_36p 1 reviewed missense c.401 p.W134L 0.99 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1" - no_errors FUT10 84750 genome.wustl.edu 36 8 33366290 33366290 + Silent SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 33366290 33366290 A C SNP FUT10 NM_032664 human genbank 54_36p -1 validated silent c.945 p.L315 1 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 - no_errors UNC5D 137970 genome.wustl.edu 36 8 35660770 35660770 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 35660770 35660770 C A SNP UNC5D NM_080872 human genbank 54_36p 1 validated missense c.719 p.A240D 1 superfamily_SSF48726 "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,PatternScan_SERPIN,HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors UNC5D 137970 genome.wustl.edu 36 8 35663633 35663633 + Silent SNP A A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 35663633 35663633 A G SNP UNC5D NM_080872 human genbank 54_36p 1 validated silent c.933 p.E311 1 "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1" "PatternScan_SERPIN,HMMPfam_Death,HMMSmart_DEATH,HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_ZU5,HMMSmart_IGc2,superfamily_DEATH_like,HMMPfam_ig,superfamily_SSF48726" - no_errors GOT1L1 137362 genome.wustl.edu 36 8 37912392 37912392 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 37912392 37912392 A G SNP GOT1L1 ENST00000307599 human ensembl 54_36p -1 known missense c.914 p.L305P 0.98 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" - no_errors ASH2L 9070 genome.wustl.edu 36 8 38083730 38083730 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 38083730 38083730 C G SNP ASH2L NM_004674 human genbank 54_36p 1 validated missense c.290 p.T97S 0.99 NULL "HMMPfam_SPRY,HMMSmart_SM00449" - no_errors STAR 6770 genome.wustl.edu 36 8 38125411 38125411 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 38125411 38125411 A T SNP STAR NM_000349 human genbank 54_36p -1 reviewed missense c.83 p.V28E 0 NULL "superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors ADAM32 203102 genome.wustl.edu 36 8 39187937 39187937 + Silent SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 39187937 39187937 G A SNP ADAM32 NM_145004 human genbank 54_36p 1 validated silent c.1170 p.P390 0 NULL ############################################################################################################################################################################################################################################################### - no_errors ADAM2 2515 genome.wustl.edu 36 8 39721571 39721571 + Splice_Site SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 39721571 39721571 T A SNP ADAM2 NM_001464 human genbank 54_36p -1 reviewed splice_site c.2175-2 e20-2 0.7 - - - no_errors SLC20A2 6575 genome.wustl.edu 36 8 42448973 42448973 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 42448973 42448973 G A SNP SLC20A2 NM_006749 human genbank 54_36p -1 provisional silent c.93 p.N31 1 HMMPfam_PHO4 HMMPfam_PHO4 - no_errors POTEA 340441 genome.wustl.edu 36 8 43271424 43271424 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 43271424 43271424 C A SNP POTEA NM_001005365 human genbank 54_36p 1 provisional missense c.404 p.A135D 0.99 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors PRKDC 5591 genome.wustl.edu 36 8 48909312 48909312 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 48909312 48909312 T C SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known missense c.8147 p.K2716R 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_NUC194,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors SNAI2 6591 genome.wustl.edu 36 8 49994099 49994099 + Silent SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 49994099 49994099 C A SNP SNAI2 NM_003068 human genbank 54_36p -1 reviewed silent c.627 p.G209 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SNTG1 54212 genome.wustl.edu 36 8 51867822 51867822 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 51867822 51867822 C A SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed nonsense c.1434 p.C478* 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors PXDNL 137902 genome.wustl.edu 36 8 52414843 52414843 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 52414843 52414843 C G SNP PXDNL NM_144651 human genbank 54_36p -1 validated missense c.4040 p.G1347A 0 NULL ############################################################################################################################################################################################################################################################### - no_errors ST18 9705 genome.wustl.edu 36 8 53255238 53255238 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 53255238 53255238 C T SNP ST18 NM_014682 human genbank 54_36p -1 validated missense c.274 p.A92T 0.91 NULL "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1" - no_errors RB1CC1 9821 genome.wustl.edu 36 8 53717642 53717642 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 53717642 53717642 C A SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated nonsense c.4159 p.E1387* 1 NULL "superfamily_SSF54236,HMMPfam_ATG11" - no_errors RB1CC1 9821 genome.wustl.edu 36 8 53732895 53732895 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 53732895 53732895 C T SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated missense c.2047 p.A683T 0.99 NULL "HMMPfam_ATG11,superfamily_SSF54236" - no_errors RB1CC1 9821 genome.wustl.edu 36 8 53749013 53749013 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 53749013 53749013 T C SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated missense c.947 p.D316G 1 NULL "HMMPfam_ATG11,superfamily_SSF54236" - no_errors RB1CC1 9821 genome.wustl.edu 36 8 53749201 53749201 + Silent SNP A A C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 53749201 53749201 A C SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated silent c.759 p.S253 0.01 NULL "HMMPfam_ATG11,superfamily_SSF54236" - no_errors OPRK1 4986 genome.wustl.edu 36 8 54304520 54304520 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 54304520 54304520 A G SNP OPRK1 NM_000912 human genbank 54_36p -1 validated missense c.1033 p.C345R 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LYN 4067 genome.wustl.edu 36 8 57041944 57041944 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 57041944 57041944 G C SNP LYN NM_002350 human genbank 54_36p 1 validated missense c.907 p.V303L 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors SDR16C5 195814 genome.wustl.edu 36 8 57391337 57391337 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 57391337 57391337 T G SNP SDR16C5 NM_138969 human genbank 54_36p -1 validated missense c.124 p.I42L 0.99 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" - no_errors PENK 5179 genome.wustl.edu 36 8 57516417 57516417 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 57516417 57516417 C G SNP PENK NM_006211 human genbank 54_36p -1 validated missense c.772 p.E258Q 1 NULL "HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR" - no_errors PENK 5179 genome.wustl.edu 36 8 57516543 57516543 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 57516543 57516543 T C SNP PENK NM_006211 human genbank 54_36p -1 validated missense c.646 p.R216G 1 NULL "HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR" - no_errors UBXN2B 137886 genome.wustl.edu 36 8 59514807 59514807 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 59514807 59514807 G A SNP UBXN2B NM_001077619 human genbank 54_36p 1 validated missense c.595 p.D199N 1 "superfamily_SEP,HMMSmart_SEP,HMMPfam_SEP" "superfamily_SEP,HMMSmart_SEP,HMMPfam_SEP,superfamily_SSF54236,HMMPfam_UBX,HMMSmart_UBX" - no_errors CHD7 55636 genome.wustl.edu 36 8 61905599 61905599 + Silent SNP T T G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 61905599 61905599 T G SNP CHD7 NM_017780 human genbank 54_36p 1 reviewed silent c.3687 p.L1229 1 HMMPfam_SNF2_N "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors CHD7 55636 genome.wustl.edu 36 8 61913209 61913209 + Silent SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 8 61913209 61913209 A G SNP CHD7 NM_017780 human genbank 54_36p 1 reviewed silent c.4374 p.K1458 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CLVS1 157807 genome.wustl.edu 36 8 62375103 62375103 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 62375103 62375103 C G SNP RLBP1L1 NM_173519 human genbank 54_36p 1 validated missense c.163 p.Q55E 0.99 superfamily_CRAL/TRIO N-terminal domain "superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL/TRIO domain,HMMSmart_SM00516" - no_errors ASPH 444 genome.wustl.edu 36 8 62718502 62718502 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 62718502 62718502 T G SNP ASPH NM_004318 human genbank 54_36p -1 validated missense c.754 p.T252P 0.41 "HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452" "HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452,HMMPfam_Asp_Arg_Hydrox,superfamily_SSF51197" - no_errors TRIM55 84675 genome.wustl.edu 36 8 67202171 67202171 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 67202171 67202171 G A SNP TRIM55 NM_184085 human genbank 54_36p 1 reviewed silent c.114 p.V38 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336" - no_errors ADHFE1 137872 genome.wustl.edu 36 8 67520078 67520078 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 67520078 67520078 C A SNP ADHFE1 NM_144650 human genbank 54_36p 1 validated missense c.425 p.T142N 1 "superfamily_Dehydroquinate synthase-like,HMMPfam_Fe-ADH" "superfamily_Dehydroquinate synthase-like,HMMPfam_Fe-ADH" - no_errors MYBL1 4603 genome.wustl.edu 36 8 67655103 67655103 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 67655103 67655103 A G SNP MYBL1 NM_001080416 human genbank 54_36p -1 validated missense c.920 p.M307T 1 NULL "superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,HMMPfam_Wos2,HMMPfam_Cmyb_C" - no_errors VCPIP1 80124 genome.wustl.edu 36 8 67739740 67739740 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 67739740 67739740 C A SNP VCPIP1 NM_025054 human genbank 54_36p -1 validated missense c.2008 p.G670C 1 NULL HMMPfam_OTU - no_errors SGK3 23678 genome.wustl.edu 36 8 67906081 67906081 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 67906081 67906081 G C SNP SGK3 NM_001033578 human genbank 54_36p 1 reviewed missense c.506 p.G169A 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C" - no_errors C8orf45 157777 genome.wustl.edu 36 8 67952151 67952151 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 67952151 67952151 T G SNP C8orf45 NM_173518 human genbank 54_36p 1 validated missense c.284 p.L95R 1 NULL NULL - no_errors CSPP1 79848 genome.wustl.edu 36 8 68170433 68170433 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 68170433 68170433 G T SNP CSPP1 NM_001077204 human genbank 54_36p 1 validated missense c.967 p.D323Y 0.31 NULL NULL - no_errors CSPP1 79848 genome.wustl.edu 36 8 68250188 68250188 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 68250188 68250188 G C SNP CSPP1 NM_001077204 human genbank 54_36p 1 validated missense c.3162 p.K1054N 1 NULL NULL - no_errors ARFGEF1 10565 genome.wustl.edu 36 8 68341919 68341919 + Silent SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 68341919 68341919 T C SNP ARFGEF1 NM_006421 human genbank 54_36p -1 reviewed silent c.1773 p.Q591 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors CPA6 57094 genome.wustl.edu 36 8 68502840 68502840 + Silent SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 68502840 68502840 C T SNP CPA6 NM_020361 human genbank 54_36p -1 validated silent c.1122 p.T374 0.04 "superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_2" - no_errors CPA6 57094 genome.wustl.edu 36 8 68558631 68558631 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 68558631 68558631 T A SNP CPA6 NM_020361 human genbank 54_36p -1 validated missense c.764 p.K255I 1 "HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases" "HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors,superfamily_Zn-dependent exopeptidases" - no_errors C8orf34 116328 genome.wustl.edu 36 8 69514291 69514291 + Silent SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 69514291 69514291 T C SNP C8orf34 ENST00000349492 human ensembl 54_36p 1 known silent c.331 p.L111 1 NULL NULL - no_errors SULF1 23213 genome.wustl.edu 36 8 70713610 70713610 + Silent SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 70713610 70713610 T C SNP SULF1 NM_015170 human genbank 54_36p 1 validated silent c.2514 p.Y838 0.98 NULL "PatternScan_SULFATASE_2,HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core,PatternScan_SULFATASE_1" - no_errors SLCO5A1 81796 genome.wustl.edu 36 8 70748033 70748033 + Silent SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 70748033 70748033 A G SNP SLCO5A1 NM_030958 human genbank 54_36p -1 reviewed silent c.2172 p.G724 1 "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors SLCO5A1 81796 genome.wustl.edu 36 8 70836541 70836541 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 70836541 70836541 A G SNP SLCO5A1 NM_030958 human genbank 54_36p -1 reviewed missense c.1031 p.I344T 1 "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors PRDM14 63978 genome.wustl.edu 36 8 71141073 71141073 + Silent SNP C C A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 71141073 71141073 C A SNP PRDM14 NM_024504 human genbank 54_36p -1 validated silent c.1134 p.V378 1 NULL "HMMSmart_SET,superfamily_SSF82199,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NCOA2 10499 genome.wustl.edu 36 8 71203286 71203286 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 71203286 71203286 A C SNP NCOA2 NM_006540 human genbank 54_36p -1 validated missense c.3617 p.L1206R 1 NULL "superfamily_HLH_basic,HMMSmart_HLH,HMMPfam_PAS,HMMSmart_PAS,superfamily_SSF55785,HMMSmart_PAC,HMMPfam_SRC-1,superfamily_Nuc_recept_coact,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518" - no_errors XKR9 389668 genome.wustl.edu 36 8 71809051 71809051 + Silent SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 71809051 71809051 T C SNP XKR9 NM_001011720 human genbank 54_36p 1 provisional silent c.960 p.P320 0 HMMPfam_XK-related HMMPfam_XK-related - no_errors TRPA1 8989 genome.wustl.edu 36 8 73112841 73112841 + Silent SNP A A G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 73112841 73112841 A G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed silent c.2316 p.T772 0.81 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_EF_HAND_1,HMMPfam_Ion_trans" - no_errors TRPA1 8989 genome.wustl.edu 36 8 73143827 73143827 + Silent SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 73143827 73143827 A G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed silent c.429 p.N143 0.08 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,PatternScan_EF_HAND_1" - no_errors TERF1 7013 genome.wustl.edu 36 8 74099610 74099610 + Splice_Site SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 74099610 74099610 G A SNP TERF1 NM_017489 human genbank 54_36p 1 reviewed splice_site c.625-1 e5-1 1 - - - no_errors PI15 51050 genome.wustl.edu 36 8 75918788 75918788 + Silent SNP T T A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 75918788 75918788 T A SNP PI15 NM_015886 human genbank 54_36p 1 reviewed silent c.291 p.L97 0.96 "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP" "PatternScan_CRISP_1,superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP,PatternScan_CRISP_2" - no_errors FAM90A10 441328 genome.wustl.edu 36 8 7664674 7664674 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 7664674 7664674 C A SNP FAM90A10 XM_496957 human genbank 54_36p 1 model missense c.272 p.A91D 0 NULL NULL - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77926296 77926296 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 77926296 77926296 T A SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated missense c.4449 p.N1483K 1 NULL "HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77929597 77929597 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 77929597 77929597 A C SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated missense c.7750 p.N2584H 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77930712 77930712 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 77930712 77930712 C T SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated silent c.8865 p.G2955 0.98 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors TPD52 7163 genome.wustl.edu 36 8 81139280 81139282 + In_Frame_Del DEL TCT TCT - novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 TCT TCT TCT - TCT TCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 81139280 81139282 TCT - DEL TPD52 NM_001025252 human genbank 54_36p -1 validated in_frame_del c.243_241 p.R81in_frame_del 0.863:0.862:0.851 HMMPfam_TPD52 HMMPfam_TPD52 "(deletion:cds_exon[81139268,81139383])" no_errors CHMP4C 92421 genome.wustl.edu 36 8 82827913 82827913 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 82827913 82827913 G T SNP CHMP4C NM_152284 human genbank 54_36p 1 validated missense c.250 p.G84C 1 HMMPfam_Snf7 HMMPfam_Snf7 - no_errors E2F5 1875 genome.wustl.edu 36 8 86313249 86313249 + Missense_Mutation SNP T A T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 8 86313249 86313249 T A SNP E2F5 NM_001951 human genbank 54_36p 1 reviewed missense c.941 p.L314H 0.97 NULL "superfamily_SSF46785,HMMPfam_E2F_TDP" - no_errors LOC392242 392242 genome.wustl.edu 36 8 86743395 86743395 + RNA SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 86743395 86743395 A G SNP LOC392242 XR_041124 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PSKH2 85481 genome.wustl.edu 36 8 87145407 87145407 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 87145407 87145407 G T SNP PSKH2 NM_033126 human genbank 54_36p -1 provisional missense c.755 p.T252K 0.99 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors CNGB3 54714 genome.wustl.edu 36 8 87729222 87729222 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 87729222 87729222 C T SNP CNGB3 NM_019098 human genbank 54_36p -1 validated missense c.913 p.A305T 0.02 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors MMP16 4325 genome.wustl.edu 36 8 89278518 89278518 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8 89278518 89278518 T C SNP MMP16 NM_005941 human genbank 54_36p -1 reviewed missense c.266 p.D89G 1 "superfamily_PGBD-like,HMMPfam_PG_binding_1" ############################################################################################################################################################################################################################################################### - no_errors PPP1R3B 79660 genome.wustl.edu 36 8 9035843 9035843 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 9035843 9035843 C A SNP PPP1R3B NM_024607 human genbank 54_36p -1 validated missense c.729 p.M243I 0 NULL HMMPfam_CBM_21 - no_errors RIPK2 8767 genome.wustl.edu 36 8 90851276 90851276 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 90851276 90851276 T A SNP RIPK2 NM_003821 human genbank 54_36p 1 reviewed missense c.623 p.I208N 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_DEATH domain,HMMPfam_CARD" - no_errors SLC26A7 115111 genome.wustl.edu 36 8 92376998 92376998 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 92376998 92376998 T G SNP SLC26A7 NM_134266 human genbank 54_36p 1 reviewed missense c.368 p.M123R 0.01 NULL "HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors SLC26A7 115111 genome.wustl.edu 36 8 92419638 92419638 + Splice_Site SNP T T G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 92419638 92419638 T G SNP SLC26A7 NM_134266 human genbank 54_36p 1 reviewed splice_site c.878+2 e6+2 1 - - - no_errors TMEM67 91147 genome.wustl.edu 36 8 94837224 94837224 + Missense_Mutation SNP A G G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 94837224 94837224 A G SNP TMEM67 NM_153704 human genbank 54_36p 1 reviewed missense c.236 p.N79S 1 superfamily_Growth factor receptor domain "superfamily_Growth factor receptor domain,PatternScan_COF_1,HMMPfam_Meckelin" - no_errors TMEM67 91147 genome.wustl.edu 36 8 94878859 94878859 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 8 94878859 94878859 C T SNP TMEM67 NM_153704 human genbank 54_36p 1 reviewed silent c.2055 p.V685 0.92 HMMPfam_Meckelin "PatternScan_COF_1,superfamily_Growth factor receptor domain,HMMPfam_Meckelin" - no_errors CDH17 1015 genome.wustl.edu 36 8 95241470 95241470 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 95241470 95241470 T C SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed missense c.1456 p.K486E 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors CDH17 1015 genome.wustl.edu 36 8 95241475 95241475 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 95241475 95241475 C A SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed missense c.1451 p.S484I 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors CDH17 1015 genome.wustl.edu 36 8 95258002 95258002 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 95258002 95258002 G A SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed nonsense c.367 p.R123* 0.27 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors DPY19L4 286148 genome.wustl.edu 36 8 95861770 95861770 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 95861770 95861770 T A SNP DPY19L4 NM_181787 human genbank 54_36p 1 validated missense c.1583 p.I528N 1 HMMPfam_DUF2211 HMMPfam_DUF2211 - no_errors PLEKHF2 79666 genome.wustl.edu 36 8 96235865 96235865 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 96235865 96235865 G T SNP PLEKHF2 NM_024613 human genbank 54_36p 1 provisional missense c.417 p.K139N 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF" - no_errors MATN2 4147 genome.wustl.edu 36 8 99023205 99023205 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 99023205 99023205 A T SNP MATN2 NM_002380 human genbank 54_36p 1 reviewed missense c.737 p.E246V 0.98 "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179" "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_Matrilin_ccoil" - no_errors MATN2 4147 genome.wustl.edu 36 8 99109104 99109104 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 99109104 99109104 G T SNP MATN2 NM_002380 human genbank 54_36p 1 reviewed nonsense c.2227 p.E743* 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_Matrilin_ccoil,superfamily_vWA-like,superfamily_EGF/Laminin" - no_errors LOC642585 642585 genome.wustl.edu 36 X 80072304 80072304 + RNA SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 80072304 80072304 C T SNP LOC642585 XR_038848 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC100132402 100132402 genome.wustl.edu 36 10 81642848 81642848 + RNA SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 81642848 81642848 G A SNP LOC100132402 XR_037723 human genbank 54_36p -1 model rna NULL NULL 0.82 - - - pseudogene LOC648283 648283 genome.wustl.edu 36 X 82891177 82891177 + RNA SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 82891177 82891177 G A SNP LOC648283 XR_038857 human genbank 54_36p -1 model rna NULL NULL 0.27 - - - pseudogene ENSG00000214931 0 genome.wustl.edu 36 9 83720437 83720437 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 83720437 83720437 A T SNP ENSG00000214931 ENST00000399261 human ensembl 54_36p 1 known missense c.538 p.I180F 0 NULL NULL - no_errors ENSG00000204562 0 genome.wustl.edu 36 9 83722276 83722276 + Missense_Mutation SNP T G G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 83722276 83722276 T G SNP ENSG00000204562 ENST00000376459 human ensembl 54_36p 1 known missense c.149 p.L50R 0 NULL NULL - no_errors ENSG00000204562 0 genome.wustl.edu 36 9 83722308 83722308 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 83722308 83722308 C G SNP ENSG00000204562 ENST00000376459 human ensembl 54_36p 1 known missense c.181 p.Q61E 0 NULL NULL - no_errors LOC100128775 100128775 genome.wustl.edu 36 1 84483051 84483051 + RNA SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 84483051 84483051 C T SNP LOC100128775 XR_039769 human genbank 54_36p 1 model rna NULL NULL 0.35 - - - pseudogene LOC100130211 100130211 genome.wustl.edu 36 X 85302150 85302150 + Missense_Mutation SNP T G G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 85302150 85302150 T G SNP LOC100130211 XM_001717632 human genbank 54_36p -1 model missense c.851 p.E284A 1 "HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain" "HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain" - pseudogene ELMOD3 84173 genome.wustl.edu 36 2 85452087 85452087 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 85452087 85452087 C G SNP ELMOD3 NM_032213 human genbank 54_36p 1 validated missense c.498 p.S166R 1 HMMPfam_ELMO_CED12 HMMPfam_ELMO_CED12 - no_errors ENSG00000222903 0 genome.wustl.edu 36 4 85828147 85828147 + RNA SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 85828147 85828147 G A SNP ENSG00000222903 ENST00000410971 human ensembl 54_36p -1 novel rna NULL NULL 0.99 - - - no_errors IGKV4-1 28908 genome.wustl.edu 36 2 88966564 88966564 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 88966564 88966564 G T SNP IGKV4-1 ENST00000390243 human ensembl 54_36p 1 known missense c.143 p.S48I 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region HSP90AB3P 3327 genome.wustl.edu 36 4 89033947 89033947 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 89033947 89033947 C A SNP HSP90AB3P ENST00000327934 human ensembl 54_36p 1 known missense c.1550 p.A517D 0.97 "HMMPfam_HSP90,superfamily_SSF110942" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF110942" - no_errors ENSG00000204456 0 genome.wustl.edu 36 11 89139788 89139788 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 89139788 89139788 A G SNP ENSG00000204456 ENST00000375974 human ensembl 54_36p -1 known missense c.139 p.S47P 0 NULL NULL - no_start_codon:no_stop_codon LOC100130134 100130134 genome.wustl.edu 36 X 89181291 89181291 + RNA SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 89181291 89181291 A G SNP LOC100130134 XR_037810 human genbank 54_36p -1 model rna NULL NULL 0.01 - - - pseudogene IGKV1-5 28299 genome.wustl.edu 36 2 89302534 89302534 + Silent SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 89302534 89302534 G T SNP IGKV1-5 ENST00000390259 human ensembl 54_36p -1 known silent c.120 p.S40 0.78 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211622 0 genome.wustl.edu 36 2 89624330 89624330 + Silent SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 89624330 89624330 G C SNP ENSG00000211622 ENST00000390267 human ensembl 54_36p 1 known silent c.306 p.R102 0.92 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211634 0 genome.wustl.edu 36 2 89886467 89886467 + Silent SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 89886467 89886467 A C SNP ENSG00000211634 ENST00000390279 human ensembl 54_36p 1 known silent c.118 p.R40 0.02 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211635 0 genome.wustl.edu 36 2 89897347 89897347 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 89897347 89897347 C G SNP ENSG00000211635 ENST00000390280 human ensembl 54_36p 1 known missense c.145 p.Q49E 0.02 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region LOC645961 645961 genome.wustl.edu 36 9 89935409 89935409 + RNA SNP C C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 89935409 89935409 C T SNP LOC645961 XR_040572 human genbank 54_36p -1 model rna NULL NULL 0 - - - no_errors ENSG00000219492 0 genome.wustl.edu 36 4 8998011 8998011 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8998011 8998011 T A SNP ENSG00000219492 ENST00000402465 human ensembl 54_36p -1 known missense c.101 p.D34V 0.96 "HMMPfam_KRAB,superfamily_Krueppel-associated_box,HMMSmart_KRAB" "HMMPfam_KRAB,superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_stop_codon ENSG00000219492 0 genome.wustl.edu 36 4 8998035 8998035 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 8998035 8998035 G T SNP ENSG00000219492 ENST00000402465 human ensembl 54_36p -1 known missense c.77 p.T26K 0.06 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_stop_codon TBC1D2 55357 genome.wustl.edu 36 9 100005503 100005503 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 100005503 100005503 G T SNP TBC1D2 NM_018421 human genbank 54_36p -1 validated missense c.2159 p.A720D 1 "superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC" - no_errors ANKS6 203286 genome.wustl.edu 36 9 100592693 100592693 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 100592693 100592693 C G SNP ANKS6 NM_173551 human genbank 54_36p -1 provisional missense c.376 p.V126L 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors COL15A1 1306 genome.wustl.edu 36 9 100807102 100807102 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 100807102 100807102 G A SNP COL15A1 NM_001855 human genbank 54_36p 1 reviewed silent c.1302 p.G434 0 NULL "superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_Endostatin" - no_errors COL15A1 1306 genome.wustl.edu 36 9 100850068 100850068 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 100850068 100850068 A C SNP COL15A1 NM_001855 human genbank 54_36p 1 reviewed missense c.2758 p.K920Q 1 "HMMPfam_Collagen,superfamily_C-type_lectin_fold" "HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Endostatin,HMMPfam_Laminin_G_2,superfamily_C-type_lectin_fold" - no_errors ALG2 85365 genome.wustl.edu 36 9 101020710 101020710 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 101020710 101020710 T G SNP ALG2 NM_033087 human genbank 54_36p -1 reviewed missense c.578 p.H193P 0.99 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_Glycos_transf_1" - no_errors INVS 27130 genome.wustl.edu 36 9 102044713 102044713 + Silent SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 102044713 102044713 G A SNP INVS NM_014425 human genbank 54_36p 1 reviewed silent c.837 p.K279 1 "HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00015,HMMPfam_IQ" - no_errors ZNF189 7743 genome.wustl.edu 36 9 103210792 103210792 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 103210792 103210792 A G SNP ZNF189 NM_003452 human genbank 54_36p 1 validated silent c.921 p.Q307 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RNF20 56254 genome.wustl.edu 36 9 103352710 103352710 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 103352710 103352710 T G SNP RNF20 NM_019592 human genbank 54_36p 1 reviewed missense c.1094 p.V365G 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors RNF20 56254 genome.wustl.edu 36 9 103353795 103353795 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 103353795 103353795 G C SNP RNF20 NM_019592 human genbank 54_36p 1 reviewed missense c.1281 p.E427D 0.99 NULL "HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors GRIN3A 116443 genome.wustl.edu 36 9 103472539 103472539 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 103472539 103472539 G T SNP GRIN3A NM_133445 human genbank 54_36p -1 reviewed missense c.1976 p.T659N 1 "superfamily_SSF53850,HMMSmart_PBPe" "superfamily_SSF53822,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMSmart_PBPe,HMMPfam_Lig_chan" - no_errors DMRT2 10655 genome.wustl.edu 36 9 1046470 1046470 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 1046470 1046470 C G SNP DMRT2 NM_181872 human genbank 54_36p 1 validated missense c.883 p.P295A 0.01 NULL "superfamily_DM_DNA_bd,HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1" - no_errors SMC2 10592 genome.wustl.edu 36 9 105927141 105927141 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 105927141 105927141 G A SNP SMC2 NM_001042550 human genbank 54_36p 1 validated silent c.2385 p.Q795 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Smc hinge domain,HMMPfam_SMC_hinge,PatternScan_ABC_TRANSPORTER_1" - no_errors OR13C5 138799 genome.wustl.edu 36 9 106401084 106401084 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 106401084 106401084 C A SNP OR13C5 NM_001004482 human genbank 54_36p -1 provisional missense c.432 p.M144I 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR13D1 286365 genome.wustl.edu 36 9 106497444 106497444 + Silent SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 106497444 106497444 G A SNP OR13D1 NM_001004484 human genbank 54_36p 1 provisional silent c.921 p.G307 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors FKTN 2218 genome.wustl.edu 36 9 107417453 107417453 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 107417453 107417453 C T SNP FKTN NM_001079802 human genbank 54_36p 1 reviewed missense c.854 p.A285V 0.96 NULL HMMPfam_LicD - no_errors TMEM38B 55151 genome.wustl.edu 36 9 107507714 107507714 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9 107507714 107507714 C A SNP TMEM38B NM_018112 human genbank 54_36p 1 provisional missense c.128 p.A43E 0.19 HMMPfam_DUF714 HMMPfam_DUF714 - no_errors ZNF462 58499 genome.wustl.edu 36 9 108729525 108729525 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 108729525 108729525 G A SNP ZNF462 NM_021224 human genbank 54_36p 1 validated missense c.3511 p.A1171T 0.91 superfamily_beta-sandwich domain of Sec23/24 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24" - no_errors ZNF462 58499 genome.wustl.edu 36 9 108729542 108729542 + Silent SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 108729542 108729542 G A SNP ZNF462 NM_021224 human genbank 54_36p 1 validated silent c.3528 p.L1176 1 superfamily_beta-sandwich domain of Sec23/24 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24" - no_errors RAD23B 5887 genome.wustl.edu 36 9 109120884 109120884 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 109120884 109120884 C T SNP RAD23B NM_002874 human genbank 54_36p 1 reviewed missense c.584 p.T195I 1 "superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165" "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,superfamily_XPC-binding domain,HMMSmart_SM00727,HMMPfam_XPC-binding" - no_errors PTPN3 5774 genome.wustl.edu 36 9 111208622 111208622 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 111208622 111208622 A C SNP PTPN3 NM_002829 human genbank 54_36p -1 reviewed missense c.1733 p.F578C 1 "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" ############################################################################################################################################################################################################################################################### - no_errors PTPN3 5774 genome.wustl.edu 36 9 111224844 111224844 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 111224844 111224844 G A SNP PTPN3 NM_002829 human genbank 54_36p -1 reviewed missense c.1111 p.R371C 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors PALM2-AKAP2 445815 genome.wustl.edu 36 9 111727169 111727169 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 111727169 111727169 C A SNP PALM2-AKAP2 NM_007203 human genbank 54_36p 1 validated missense c.380 p.S127Y 0.99 NULL HMMPfam_RII_binding_1 - no_errors PALM2 114299 genome.wustl.edu 36 9 111745233 111745233 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 111745233 111745233 A G SNP PALM2 NM_053016 human genbank 54_36p 1 validated missense c.949 p.M317V 1 HMMPfam_Paralemmin HMMPfam_Paralemmin - no_errors PALM2-AKAP2 445815 genome.wustl.edu 36 9 111939521 111939521 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 111939521 111939521 G C SNP PALM2-AKAP2 NM_007203 human genbank 54_36p 1 validated missense c.1876 p.G626R 0.01 NULL HMMPfam_RII_binding_1 - no_errors SVEP1 79987 genome.wustl.edu 36 9 112189409 112189409 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 112189409 112189409 C T SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.10037 p.S3346N 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" ############################################################################################################################################################################################################################################################### - no_errors SVEP1 79987 genome.wustl.edu 36 9 112208884 112208884 + Silent SNP T T G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 112208884 112208884 T G SNP SVEP1 NM_153366 human genbank 54_36p -1 validated silent c.8817 p.A2939 0.7 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" ############################################################################################################################################################################################################################################################### - no_errors SVEP1 79987 genome.wustl.edu 36 9 112352170 112352170 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 112352170 112352170 T A SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.567 p.K189N 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" ############################################################################################################################################################################################################################################################### - no_errors MUSK 4593 genome.wustl.edu 36 9 112570003 112570003 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 112570003 112570003 G A SNP MUSK NM_005592 human genbank 54_36p 1 validated missense c.1003 p.V335I 1 HMMPfam_Fz ############################################################################################################################################################################################################################################################### - no_errors LPAR1 1902 genome.wustl.edu 36 9 112744091 112744091 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 112744091 112744091 T C SNP LPAR1 NM_001401 human genbank 54_36p -1 reviewed missense c.224 p.Y75C 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors C9orf84 158401 genome.wustl.edu 36 9 113516621 113516621 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 113516621 113516621 C A SNP C9orf84 NM_173521 human genbank 54_36p -1 validated missense c.2148 p.K716N 0.69 NULL NULL - no_errors C9orf84 158401 genome.wustl.edu 36 9 113529997 113529997 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 113529997 113529997 G A SNP C9orf84 NM_173521 human genbank 54_36p -1 validated missense c.1379 p.A460V 0 NULL NULL - no_errors UGCG 7357 genome.wustl.edu 36 9 113731768 113731768 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 113731768 113731768 G A SNP UGCG NM_003358 human genbank 54_36p 1 reviewed silent c.726 p.A242 1 superfamily_SSF53448 "superfamily_SSF53448,HMMPfam_Glycos_transf_2" - no_errors ZFP37 7539 genome.wustl.edu 36 9 114858731 114858731 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 114858731 114858731 C T SNP ZFP37 NM_003408 human genbank 54_36p -1 provisional missense c.59 p.R20K 0.02 NULL "HMMSmart_KRAB,HMMPfam_KRAB,superfamily_Krueppel-associated_box,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FKBP15 23307 genome.wustl.edu 36 9 114971419 114971419 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 114971419 114971419 A T SNP FKBP15 NM_015258 human genbank 54_36p -1 validated missense c.3391 p.S1131T 0.01 NULL "superfamily_FKBP-like,HMMPfam_FKBP_C" - no_errors FKBP15 23307 genome.wustl.edu 36 9 115009362 115009362 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 115009362 115009362 T C SNP FKBP15 NM_015258 human genbank 54_36p -1 validated missense c.205 p.M69V 0 superfamily_FKBP-like "HMMPfam_FKBP_C,superfamily_FKBP-like" - no_errors COL27A1 85301 genome.wustl.edu 36 9 116109854 116109854 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 116109854 116109854 G T SNP COL27A1 NM_032888 human genbank 54_36p 1 provisional missense c.5192 p.C1731F 1 "HMMSmart_SM00038,HMMPfam_COLFI" "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors AKNA 80709 genome.wustl.edu 36 9 116178437 116178437 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 116178437 116178437 C G SNP AKNA ENST00000394574 human ensembl 54_36p -1 known missense c.1471 p.G491R 0.75 NULL NULL - no_errors AKNA 80709 genome.wustl.edu 36 9 116179231 116179231 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 116179231 116179231 G C SNP AKNA NM_030767 human genbank 54_36p -1 validated missense c.677 p.P226R 0.04 NULL NULL - no_errors AKNA 80709 genome.wustl.edu 36 9 116179491 116179491 + Silent SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 116179491 116179491 C T SNP AKNA NM_030767 human genbank 54_36p -1 validated silent c.417 p.E139 0.12 NULL NULL - no_errors DFNB31 25861 genome.wustl.edu 36 9 116268469 116268469 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 116268469 116268469 G A SNP DFNB31 NM_015404 human genbank 54_36p -1 validated missense c.862 p.R288W 0.97 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors TNFSF8 944 genome.wustl.edu 36 9 116706094 116706094 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 116706094 116706094 C T SNP TNFSF8 NM_001244 human genbank 54_36p -1 reviewed missense c.643 p.D215N 1 "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF" "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1" - no_errors TLR4 7099 genome.wustl.edu 36 9 119510687 119510687 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 119510687 119510687 G T SNP TLR4 NM_138554 human genbank 54_36p 1 reviewed missense c.119 p.C40F 1 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors TLR4 7099 genome.wustl.edu 36 9 119516667 119516667 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 119516667 119516667 G A SNP TLR4 NM_138554 human genbank 54_36p 1 reviewed missense c.2440 p.A814T 1 "HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain" "HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like" - no_errors LOC389787 389787 genome.wustl.edu 36 9 119884996 119884996 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 119884996 119884996 G T SNP LOC389787 XM_001725747 human genbank 54_36p -1 model missense c.384 p.F128L 1 "HMMPfam_TCTP,superfamily_Mss4-like" "HMMPfam_TCTP,superfamily_Mss4-like,PatternScan_TCTP_2" - no_errors LOC442434 442434 genome.wustl.edu 36 9 120566038 120566038 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 120566038 120566038 G C SNP LOC442434 XM_001718538 human genbank 54_36p 1 model missense c.613 p.A205P 1 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors CDK5RAP2 55755 genome.wustl.edu 36 9 122273886 122273886 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 122273886 122273886 T A SNP CDK5RAP2 NM_018249 human genbank 54_36p -1 reviewed missense c.1819 p.T607S 0.31 NULL HMMPfam_Microtub_assoc - no_errors TRAF1 7185 genome.wustl.edu 36 9 122713453 122713453 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 122713453 122713453 C T SNP TRAF1 NM_005658 human genbank 54_36p -1 reviewed missense c.865 p.V289I 0.02 "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors C5 727 genome.wustl.edu 36 9 122819952 122819952 + Splice_Site SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 122819952 122819952 C G SNP C5 NM_001735 human genbank 54_36p -1 reviewed splice_site c.1507-1 e13-1 1 - - - no_errors CEP110 11064 genome.wustl.edu 36 9 122971763 122971763 + Silent SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 122971763 122971763 T C SNP CEP110 NM_007018 human genbank 54_36p 1 reviewed silent c.6124 p.L2042 0 NULL "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_Prefoldin,superfamily_tRNA-binding arm" - no_errors DAB2IP 153090 genome.wustl.edu 36 9 123561076 123561076 + Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 123561076 123561076 C T SNP DAB2IP NM_032552 human genbank 54_36p 1 validated nonsense c.511 p.R171* 1 "HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_PH,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_PH,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" - no_errors MRRF 92399 genome.wustl.edu 36 9 124073039 124073039 + Silent SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124073039 124073039 C T SNP MRRF NM_138777 human genbank 54_36p 1 validated silent c.48 p.R16 0.11 NULL "superfamily_Ribosome recycling factor RRF,HMMPfam_RRF" - no_errors PTGS1 5742 genome.wustl.edu 36 9 124180553 124180553 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124180553 124180553 C T SNP PTGS1 NM_000962 human genbank 54_36p 1 reviewed missense c.232 p.R78W 0.84 superfamily_Heme-dependent peroxidases "superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" - no_errors OR1N2 138882 genome.wustl.edu 36 9 124355406 124355406 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124355406 124355406 G C SNP OR1N2 NM_001004457 human genbank 54_36p 1 provisional missense c.137 p.G46A 0.43 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR1Q1 158131 genome.wustl.edu 36 9 124417536 124417536 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124417536 124417536 C T SNP OR1Q1 NM_012364 human genbank 54_36p 1 provisional silent c.699 p.G233 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR1L6 392390 genome.wustl.edu 36 9 124552709 124552709 + Silent SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 124552709 124552709 G A SNP OR1L6 NM_001004453 human genbank 54_36p 1 provisional silent c.870 p.G290 0.82 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors RC3H2 54542 genome.wustl.edu 36 9 124662101 124662101 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124662101 124662101 A G SNP RC3H2 NM_001100588 human genbank 54_36p -1 validated missense c.1765 p.Y589H 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH" - no_errors RABGAP1 23637 genome.wustl.edu 36 9 124786770 124786770 + Silent SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124786770 124786770 A C SNP RABGAP1 NM_012197 human genbank 54_36p 1 validated silent c.120 p.V40 1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors RABGAP1 23637 genome.wustl.edu 36 9 124791454 124791454 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 124791454 124791454 C T SNP RABGAP1 NM_012197 human genbank 54_36p 1 validated silent c.432 p.L144 1 "HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors NR6A1 2649 genome.wustl.edu 36 9 126338213 126338213 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 126338213 126338213 C A SNP NR6A1 NM_033334 human genbank 54_36p -1 reviewed nonsense c.844 p.E282* 1 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors RPL35 11224 genome.wustl.edu 36 9 126660108 126660108 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 126660108 126660108 C T SNP RPL35 NM_007209 human genbank 54_36p -1 reviewed silent c.282 p.R94 1 NULL "superfamily_Ribosomal_L29,HMMPfam_Ribosomal_L29,PatternScan_RIBOSOMAL_L29" - no_errors SCAI 286205 genome.wustl.edu 36 9 126868126 126868126 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 126868126 126868126 T A SNP C9orf126 NM_173690 human genbank 54_36p -1 validated missense c.131 p.Q44L 0.43 NULL NULL - no_errors RABEPK 10244 genome.wustl.edu 36 9 127035868 127035868 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 127035868 127035868 T C SNP RABEPK NM_005833 human genbank 54_36p 1 provisional missense c.907 p.W303R 1 NULL "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMPfam_Kelch_1" - no_errors HSPA5 3309 genome.wustl.edu 36 9 127040895 127040895 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 127040895 127040895 C A SNP HSPA5 NM_005347 human genbank 54_36p -1 validated missense c.1029 p.Q343H 1 "HMMPfam_HSP70,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" - no_errors GAPVD1 26130 genome.wustl.edu 36 9 127123549 127123549 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 127123549 127123549 T G SNP GAPVD1 NM_015635 human genbank 54_36p 1 validated missense c.1619 p.L540R 1 NULL "superfamily_Rho_GAP,HMMPfam_RasGAP,superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9" - no_errors MAPKAP1 79109 genome.wustl.edu 36 9 127270182 127270182 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 127270182 127270182 T C SNP MAPKAP1 NM_001006617 human genbank 54_36p -1 reviewed missense c.1235 p.D412G 1 HMMPfam_SIN1 "HMMPfam_SIN1,PatternScan_LECTIN_LEGUME_BETA" - no_errors ZBTB43 23099 genome.wustl.edu 36 9 128635971 128635971 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 128635971 128635971 C T SNP ZBTB43 NM_014007 human genbank 54_36p 1 validated silent c.1362 p.Y454 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors STXBP1 6812 genome.wustl.edu 36 9 129492950 129492950 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 129492950 129492950 G A SNP STXBP1 NM_001032221 human genbank 54_36p 1 provisional missense c.1778 p.S593N 1 NULL "superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" - no_errors DNM1 1759 genome.wustl.edu 36 9 130048595 130048595 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 130048595 130048595 G A SNP DNM1 NM_004408 human genbank 54_36p 1 reviewed silent c.1773 p.T591 0.84 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302" - no_errors DNM1 1759 genome.wustl.edu 36 9 130052309 130052309 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 130052309 130052309 G A SNP DNM1 NM_004408 human genbank 54_36p 1 reviewed missense c.2171 p.R724Q 1 "HMMPfam_GED,HMMSmart_SM00302" "HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GOLGA2 2801 genome.wustl.edu 36 9 130062777 130062777 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 130062777 130062777 C T SNP GOLGA2 NM_004486 human genbank 54_36p -1 reviewed missense c.1429 p.D477N 1 NULL NULL - no_errors ODF2 4957 genome.wustl.edu 36 9 130296789 130296789 + Silent SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 130296789 130296789 G T SNP ODF2 NM_153437 human genbank 54_36p 1 reviewed silent c.1875 p.G625 1 NULL NULL - no_errors SPTAN1 6709 genome.wustl.edu 36 9 130389791 130389791 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C - C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 130389791 130389791 C - DEL SPTAN1 NM_003127 human genbank 54_36p 1 validated frame_shift_del c.2864 p.C956fs 1 "HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_SH3-domain" "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_efhand_Ca_insen" "(deletion:cds_exon[130389706,130389798])" no_errors NUP188 23511 genome.wustl.edu 36 9 130770618 130770618 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 130770618 130770618 G A SNP NUP188 NM_015354 human genbank 54_36p 1 validated missense c.598 p.V200M 1 HMMPfam_Nup188 HMMPfam_Nup188 - no_errors MPDZ 8777 genome.wustl.edu 36 9 13109558 13109558 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 13109558 13109558 C G SNP MPDZ NM_003829 human genbank 54_36p -1 validated missense c.5322 p.M1774I 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "HMMPfam_L27_2,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors ASS1 445 genome.wustl.edu 36 9 132366225 132366225 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 132366225 132366225 A C SNP ASS1 NM_000050 human genbank 54_36p 1 reviewed missense c.1235 p.K412T 1 NULL "superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_Arginosuc_synth,PatternScan_ARGININOSUCCIN_SYN_1,PatternScan_ARGININOSUCCIN_SYN_2,superfamily_Argininosuccinate synthetase C-terminal domain" - no_errors EXOSC2 23404 genome.wustl.edu 36 9 132568284 132568284 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 132568284 132568284 G T SNP EXOSC2 NM_014285 human genbank 54_36p 1 validated missense c.696 p.E232D 1 NULL NULL - no_errors LAMC3 10319 genome.wustl.edu 36 9 132932260 132932260 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 132932260 132932260 G A SNP LAMC3 NM_006059 human genbank 54_36p 1 reviewed missense c.2440 p.G814R 0.98 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196" "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2" - no_errors NUP214 8021 genome.wustl.edu 36 9 133040820 133040820 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 133040820 133040820 C G SNP NUP214 NM_005085 human genbank 54_36p 1 reviewed missense c.3310 p.Q1104E 0.93 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320" - no_errors RAPGEF1 2889 genome.wustl.edu 36 9 133454022 133454022 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 133454022 133454022 C A SNP RAPGEF1 NM_198679 human genbank 54_36p -1 reviewed missense c.2536 p.G846W 1 "superfamily_Ras_GEF,HMMSmart_RasGEFN" "superfamily_Ras_GEF,HMMSmart_RasGEFN,HMMPfam_RasGEF_N,HMMSmart_RasGEF,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors SETX 23064 genome.wustl.edu 36 9 134192410 134192410 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 134192410 134192410 C A SNP SETX NM_015046 human genbank 54_36p -1 reviewed missense c.4396 p.G1466C 0 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SETX 23064 genome.wustl.edu 36 9 134211475 134211475 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 134211475 134211475 G T SNP SETX NM_015046 human genbank 54_36p -1 reviewed missense c.382 p.R128S 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TTF1 7270 genome.wustl.edu 36 9 134267311 134267311 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 134267311 134267311 G C SNP TTF1 NM_007344 human genbank 54_36p -1 validated missense c.719 p.S240W 0 NULL "HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors RALGDS 5900 genome.wustl.edu 36 9 134975699 134975699 + Splice_Site SNP T C C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 134975699 134975699 T C SNP RALGDS NM_006266 human genbank 54_36p -1 validated splice_site c.295-2 e3-2 0.99 - - - no_errors ABO 28 genome.wustl.edu 36 9 135125043 135125043 + Splice_Site SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 135125043 135125043 C T SNP ABO ENST00000319878 human ensembl 54_36p -1 known splice_site c.203+1 e4+1 0.01 - - - no_errors DBH 1621 genome.wustl.edu 36 9 135497350 135497350 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 135497350 135497350 G A SNP DBH NM_000787 human genbank 54_36p 1 reviewed silent c.687 p.T229 0.98 "superfamily_PHM_PNGase_F,HMMPfam_Cu2_monooxygen" "HMMSmart_DoH,HMMPfam_DOMON,superfamily_PHM_PNGase_F,HMMPfam_Cu2_monooxygen,PatternScan_CU2_MONOOXYGENASE_1,HMMPfam_Cu2_monoox_C,PatternScan_CU2_MONOOXYGENASE_2" - no_errors VAV2 7410 genome.wustl.edu 36 9 135646788 135646788 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 135646788 135646788 C A SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.1111 p.V371F 1 superfamily_DH-domain ############################################################################################################################################################################################################################################################### - no_errors VAV2 7410 genome.wustl.edu 36 9 135716365 135716365 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 135716365 135716365 G A SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.332 p.A111V 0.98 "HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology" ############################################################################################################################################################################################################################################################### - no_errors KIAA0649 9858 genome.wustl.edu 36 9 137519770 137519770 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 137519770 137519770 C T SNP KIAA0649 NM_014811 human genbank 54_36p 1 validated missense c.3593 p.T1198M 0.53 NULL NULL - no_errors KCNT1 57582 genome.wustl.edu 36 9 137782674 137782674 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 137782674 137782674 G A SNP KCNT1 NM_020822 human genbank 54_36p 1 provisional missense c.400 p.V134I 1 NULL "superfamily_SSF81324,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a" - no_errors QSOX2 169714 genome.wustl.edu 36 9 138243061 138243061 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 138243061 138243061 G T SNP QSOX2 NM_181701 human genbank 54_36p -1 validated missense c.1419 p.F473L 1 "superfamily_Evr1_Alr,HMMPfam_Evr1_Alr" "superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,superfamily_Evr1_Alr,HMMPfam_Evr1_Alr" - no_errors KIAA1984 84960 genome.wustl.edu 36 9 138816969 138816969 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 138816969 138816969 G C SNP KIAA1984 NM_001039374 human genbank 54_36p 1 validated missense c.576 p.K192N 1 NULL NULL - no_errors TRAF2 7186 genome.wustl.edu 36 9 138934630 138934630 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 138934630 138934630 C T SNP TRAF2 NM_021138 human genbank 54_36p 1 reviewed missense c.802 p.L268F 0.42 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,HMMPfam_zf-TRAF,HMMSmart_SM00061,HMMPfam_MATH" - no_errors UAP1L1 91373 genome.wustl.edu 36 9 139096287 139096287 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 139096287 139096287 G A SNP UAP1L1 NM_207309 human genbank 54_36p 1 validated missense c.1012 p.D338N 0.95 "HMMPfam_UDPGP,superfamily_SSF53448" "HMMPfam_UDPGP,superfamily_SSF53448" - no_errors ENSG00000159247 0 genome.wustl.edu 36 9 140190899 140190899 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 140190899 140190899 A G SNP ENSG00000159247 ENST00000290377 human ensembl 54_36p 1 known missense c.697 p.M233V 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_start_codon FREM1 158326 genome.wustl.edu 36 9 14740192 14740192 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 14740192 14740192 G C SNP FREM1 NM_144966 human genbank 54_36p -1 validated missense c.5490 p.N1830K 1 NULL "superfamily_Cadherin-like,PatternScan_SPASE_I_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" - no_errors FREM1 158326 genome.wustl.edu 36 9 14838670 14838670 + Missense_Mutation SNP C A A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 14838670 14838670 C A SNP FREM1 NM_144966 human genbank 54_36p -1 validated missense c.1254 p.W418C 1 NULL "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Cadherin-like,superfamily_C-type lectin-like,PatternScan_SPASE_I_1" - no_errors TTC39B 158219 genome.wustl.edu 36 9 15204172 15204172 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 15204172 15204172 G T SNP TTC39B NM_152574 human genbank 54_36p -1 provisional missense c.249 p.N83K 1 HMMPfam_Deme6 "HMMPfam_Deme6,superfamily_TPR-like,HMMSmart_SM00028" - no_errors BNC2 54796 genome.wustl.edu 36 9 16427047 16427047 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 16427047 16427047 G C SNP BNC2 NM_017637 human genbank 54_36p -1 validated missense c.1145 p.P382R 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors BNC2 54796 genome.wustl.edu 36 9 16427049 16427049 + Silent SNP T T C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 16427049 16427049 T C SNP BNC2 NM_017637 human genbank 54_36p -1 validated silent c.1143 p.T381 0.92 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ADAMTSL1 92949 genome.wustl.edu 36 9 18612344 18612344 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 18612344 18612344 A C SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated missense c.578 p.K193T 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,HMMPfam_PLAC" - no_errors PLIN2 123 genome.wustl.edu 36 9 19106373 19106373 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 19106373 19106373 G T SNP ADFP NM_001122 human genbank 54_36p -1 reviewed missense c.1187 p.T396K 1 "HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain" "HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain" - no_errors RPS6 6194 genome.wustl.edu 36 9 19369608 19369610 + In_Frame_Del DEL GAT GAT - novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 GAT GAT GAT - GAT GAT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 19369608 19369610 GAT - DEL RPS6 NM_001010 human genbank 54_36p -1 reviewed in_frame_del c.15_13 p.I5in_frame_del 1.000:1.000:1.000 HMMPfam_Ribosomal_S6e "HMMPfam_Ribosomal_S6e,PatternScan_RIBOSOMAL_S6E" "(deletion:cds_exon[19369485,19369616])" no_errors SLC24A2 25769 genome.wustl.edu 36 9 19518072 19518072 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 19518072 19518072 T G SNP SLC24A2 NM_020344 human genbank 54_36p -1 provisional missense c.1544 p.Y515S 1 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex - no_errors SLC24A2 25769 genome.wustl.edu 36 9 19540152 19540152 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 19540152 19540152 G T SNP SLC24A2 NM_020344 human genbank 54_36p -1 provisional missense c.1462 p.P488T 1 NULL HMMPfam_Na_Ca_ex - no_errors MLLT3 4300 genome.wustl.edu 36 9 20404188 20404188 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 20404188 20404188 T C SNP MLLT3 NM_004529 human genbank 54_36p -1 validated missense c.656 p.K219R 1 NULL HMMPfam_YEATS - no_errors KIAA1797 54914 genome.wustl.edu 36 9 20705367 20705367 + Silent SNP C C A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 20705367 20705367 C A SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated silent c.15 p.I5 1 NULL superfamily_ARM-type_fold - no_errors KIAA1797 54914 genome.wustl.edu 36 9 20871926 20871926 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 20871926 20871926 G T SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated missense c.2374 p.G792W 1 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors IFNB1 3456 genome.wustl.edu 36 9 21067536 21067536 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 21067536 21067536 A T SNP IFNB1 NM_002176 human genbank 54_36p -1 validated missense c.333 p.N111K 0 "HMMPfam_Interferon,superfamily_4-helical cytokines,HMMSmart_SM00076" "HMMPfam_Interferon,superfamily_4-helical cytokines,HMMSmart_SM00076,PatternScan_INTERFERON_A_B_D" - no_errors IFNA17 3451 genome.wustl.edu 36 9 21217987 21217987 + Silent SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 21217987 21217987 G A SNP IFNA17 NM_021268 human genbank 54_36p -1 provisional silent c.186 p.P62 0 "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd" "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D" - no_errors IFNA5 3442 genome.wustl.edu 36 9 21294927 21294927 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 21294927 21294927 G C SNP IFNA5 NM_002169 human genbank 54_36p -1 provisional missense c.329 p.T110S 0 "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd" "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D" - no_errors KLHL9 55958 genome.wustl.edu 36 9 21323117 21323117 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 21323117 21323117 G A SNP KLHL9 NM_018847 human genbank 54_36p -1 validated missense c.1742 p.P581L 1 "HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors IFNA1 3439 genome.wustl.edu 36 9 21430580 21430580 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 21430580 21430580 A G SNP IFNA1 NM_024013 human genbank 54_36p 1 provisional missense c.74 p.D25G 0 "HMMPfam_Interferon,superfamily_4_helix_cytokine" "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D" - no_errors IFNA1 3439 genome.wustl.edu 36 9 21430948 21430948 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 21430948 21430948 C G SNP IFNA1 NM_024013 human genbank 54_36p 1 provisional missense c.442 p.R148G 0.51 "HMMPfam_Interferon,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D,superfamily_4_helix_cytokine" "HMMPfam_Interferon,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D,superfamily_4_helix_cytokine" - no_errors TEK 7010 genome.wustl.edu 36 9 27207734 27207734 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 27207734 27207734 G T SNP TEK NM_000459 human genbank 54_36p 1 reviewed missense c.3040 p.V1014L 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" ############################################################################################################################################################################################################################################################### - no_errors KIAA0020 9933 genome.wustl.edu 36 9 2821319 2821319 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 2821319 2821319 C G SNP KIAA0020 NM_014878 human genbank 54_36p -1 validated missense c.542 p.R181P 0.99 "superfamily_ARM repeat,HMMSmart_SM00025" "superfamily_ARM repeat,HMMSmart_SM00025,HMMPfam_CPL" - no_errors TOPORS 10210 genome.wustl.edu 36 9 32534141 32534141 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 32534141 32534141 C T SNP TOPORS NM_005802 human genbank 54_36p -1 validated missense c.382 p.V128I 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors APTX 54840 genome.wustl.edu 36 9 32979805 32979805 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 32979805 32979805 G A SNP APTX NM_175073 human genbank 54_36p -1 reviewed missense c.85 p.R29C 1 superfamily_SMAD/FHA domain "superfamily_SMAD/FHA domain,superfamily_HIT-like,HMMPfam_HIT,PatternScan_HIT_1,PatternScan_ZINC_FINGER_C2H2_1" - no_errors BAG1 573 genome.wustl.edu 36 9 33245264 33245264 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 33245264 33245264 G A SNP BAG1 NM_004323 human genbank 54_36p -1 reviewed nonsense c.991 p.Q331* 1 superfamily_BAG domain "superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264" - no_errors CHMP5 51510 genome.wustl.edu 36 9 33257862 33257862 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 33257862 33257862 G A SNP CHMP5 NM_016410 human genbank 54_36p 1 validated silent c.186 p.K62 0.99 HMMPfam_Snf7 HMMPfam_Snf7 - no_errors NOL6 65083 genome.wustl.edu 36 9 33456931 33456931 + Silent SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 33456931 33456931 T C SNP NOL6 NM_022917 human genbank 54_36p -1 reviewed silent c.1929 p.A643 0 HMMPfam_Nrap HMMPfam_Nrap - no_errors UBAP2 55833 genome.wustl.edu 36 9 33925776 33925776 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 33925776 33925776 A G SNP UBAP2 ENST00000379225 human ensembl 54_36p -1 known missense c.929 p.I310T 0 NULL NULL - no_errors UBAP2 55833 genome.wustl.edu 36 9 33943309 33943309 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 33943309 33943309 C T SNP UBAP2 NM_018449 human genbank 54_36p -1 reviewed missense c.1030 p.V344I 1 NULL "HMMPfam_UBA,HMMSmart_UBA" - no_errors UBAP2 55833 genome.wustl.edu 36 9 33976812 33976812 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 33976812 33976812 C G SNP UBAP2 NM_018449 human genbank 54_36p -1 reviewed missense c.466 p.D156H 1 NULL "HMMPfam_UBA,HMMSmart_UBA" - no_errors KIF24 347240 genome.wustl.edu 36 9 34245784 34245784 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 34245784 34245784 C T SNP KIF24 NM_194313 human genbank 54_36p -1 validated missense c.3821 p.C1274Y 0.9 NULL "HMMPfam_SAM_1,superfamily_SAM/Pointed domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors C9orf24 84688 genome.wustl.edu 36 9 34372763 34372763 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 34372763 34372763 G A SNP C9orf24 NM_032596 human genbank 54_36p -1 reviewed missense c.385 p.R129W 0.36 NULL NULL - no_errors PIGO 84720 genome.wustl.edu 36 9 35081323 35081323 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35081323 35081323 C T SNP PIGO NM_032634 human genbank 54_36p -1 reviewed missense c.2561 p.R854H 1 NULL "superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest" - no_errors UNC13B 10497 genome.wustl.edu 36 9 35393794 35393794 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35393794 35393794 G A SNP UNC13B NM_006377 human genbank 54_36p 1 reviewed missense c.4540 p.V1514M 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors TESK1 7016 genome.wustl.edu 36 9 35596922 35596922 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35596922 35596922 C G SNP TESK1 NM_006285 human genbank 54_36p 1 reviewed missense c.479 p.A160G 1 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors CA9 768 genome.wustl.edu 36 9 35664151 35664151 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35664151 35664151 G A SNP CA9 NM_001216 human genbank 54_36p 1 reviewed silent c.195 p.L65 0.46 NULL "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors CA9 768 genome.wustl.edu 36 9 35666372 35666372 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35666372 35666372 G A SNP CA9 NM_001216 human genbank 54_36p 1 reviewed missense c.826 p.A276T 1 "HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd" "HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd,PatternScan_ALPHA_CA_1" - no_errors GBA2 57704 genome.wustl.edu 36 9 35728807 35728807 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35728807 35728807 C T SNP GBA2 NM_020944 human genbank 54_36p -1 reviewed missense c.1889 p.R630Q 1 "superfamily_Six-hairpin glycosidases,HMMPfam_DUF608" "PatternScan_HMG_COA_REDUCTASE_2,superfamily_Six-hairpin glycosidases,HMMPfam_DUF608" - no_errors GBA2 57704 genome.wustl.edu 36 9 35730010 35730010 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35730010 35730010 G A SNP GBA2 NM_020944 human genbank 54_36p -1 reviewed missense c.1394 p.P465L 0.99 superfamily_Six-hairpin glycosidases "PatternScan_HMG_COA_REDUCTASE_2,HMMPfam_DUF608,superfamily_Six-hairpin glycosidases" - no_errors NPR2 4882 genome.wustl.edu 36 9 35795826 35795826 + Splice_Site SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9 35795826 35795826 G C SNP NPR2 NM_003995 human genbank 54_36p 1 reviewed splice_site c.2048-1 e14-1 1 - - - no_errors NPR2 4882 genome.wustl.edu 36 9 35798671 35798671 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 35798671 35798671 G T SNP NPR2 NM_003995 human genbank 54_36p 1 reviewed missense c.2878 p.V960F 0.99 "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc" ############################################################################################################################################################################################################################################################### - no_errors OR2S2 56656 genome.wustl.edu 36 9 35947870 35947870 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 35947870 35947870 T C SNP OR2S2 NM_019897 human genbank 54_36p -1 provisional missense c.196 p.T66A 0.15 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors DOCK8 81704 genome.wustl.edu 36 9 362251 362251 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 362251 362251 A T SNP DOCK8 NM_203447 human genbank 54_36p 1 validated nonsense c.1870 p.K624* 1 NULL HMMPfam_Ded_cyto - no_errors MELK 9833 genome.wustl.edu 36 9 36641858 36641858 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 36641858 36641858 C T SNP MELK NM_014791 human genbank 54_36p 1 provisional missense c.1037 p.P346L 0.02 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF103243,HMMPfam_KA1" - no_errors MELK 9833 genome.wustl.edu 36 9 36661029 36661029 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 36661029 36661029 C T SNP MELK NM_014791 human genbank 54_36p 1 provisional missense c.1540 p.H514Y 1 NULL "HMMPfam_KA1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF103243" - no_errors ZCCHC7 84186 genome.wustl.edu 36 9 37294239 37294239 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 37294239 37294239 G C SNP ZCCHC7 NM_032226 human genbank 54_36p 1 validated missense c.709 p.A237P 0.78 superfamily_Retrovirus zinc finger-like domains "superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors ZBTB5 9925 genome.wustl.edu 36 9 37432187 37432187 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 37432187 37432187 G T SNP ZBTB5 NM_014872 human genbank 54_36p -1 validated missense c.362 p.T121K 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors FRMPD1 22844 genome.wustl.edu 36 9 37734774 37734774 + Silent SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 37734774 37734774 C T SNP FRMPD1 NM_014907 human genbank 54_36p 1 provisional silent c.2745 p.N915 0 NULL "PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" - no_errors MCART1 92014 genome.wustl.edu 36 9 37877988 37877988 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 37877988 37877988 T A SNP MCART1 NM_033412 human genbank 54_36p -1 validated missense c.560 p.N187I 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors GLIS3 169792 genome.wustl.edu 36 9 3846099 3846099 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 3846099 3846099 G C SNP GLIS3 NM_001042413 human genbank 54_36p -1 reviewed missense c.2383 p.P795A 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors CNTNAP3 79937 genome.wustl.edu 36 9 39076820 39076820 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 39076820 39076820 C G SNP CNTNAP3 NM_033655 human genbank 54_36p -1 reviewed missense c.3247 p.D1083H 0.88 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors FAM75A3 727830 genome.wustl.edu 36 9 40694394 40694394 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9 40694394 40694394 G A SNP FAM75A3 NM_001083124 human genbank 54_36p 1 predicted missense c.2051 p.R684K 0 NULL NULL - no_errors FAM75A3 727830 genome.wustl.edu 36 9 40695599 40695599 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 40695599 40695599 G A SNP FAM75A3 NM_001083124 human genbank 54_36p 1 predicted missense c.3256 p.E1086K 0 NULL NULL - no_errors ZNF658 26149 genome.wustl.edu 36 9 40763337 40763337 + Silent SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 40763337 40763337 C T SNP ZNF658 NM_033160 human genbank 54_36p -1 validated silent c.1938 p.K646 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF658 26149 genome.wustl.edu 36 9 40763969 40763969 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 40763969 40763969 C T SNP ZNF658 NM_033160 human genbank 54_36p -1 validated missense c.1306 p.G436R 0.05 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors DOCK8 81704 genome.wustl.edu 36 9 408118 408118 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 408118 408118 G C SNP DOCK8 NM_203447 human genbank 54_36p 1 validated missense c.3547 p.G1183R 0.38 NULL HMMPfam_Ded_cyto - no_errors LOC441416 441416 genome.wustl.edu 36 9 44114369 44114369 + RNA SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 44114369 44114369 G T SNP LOC441416 XR_016304 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene WASH1 100287171 genome.wustl.edu 36 9 4863 4863 + Silent SNP A A G novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9 4863 4863 A G SNP WASH1 NM_182905 human genbank 54_36p -1 validated silent c.739 p.L247 1 NULL NULL - no_errors C9orf46 55848 genome.wustl.edu 36 9 5351832 5351832 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 5351832 5351832 C G SNP C9orf46 NM_018465 human genbank 54_36p -1 predicted missense c.138 p.Q46H 1 HMMPfam_DUF2368 HMMPfam_DUF2368 - no_errors KIAA2026 158358 genome.wustl.edu 36 9 5959314 5959314 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 5959314 5959314 G C SNP KIAA2026 NM_001017969 human genbank 54_36p -1 validated missense c.917 p.A306G 1 NULL superfamily_Bromodomain - no_errors RANBP6 26953 genome.wustl.edu 36 9 6004609 6004609 + Silent SNP A A G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 6004609 6004609 A G SNP RANBP6 NM_012416 human genbank 54_36p -1 validated silent c.999 p.D333 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_HEAT" - no_errors RANBP6 26953 genome.wustl.edu 36 9 6005291 6005291 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 6005291 6005291 T C SNP RANBP6 NM_012416 human genbank 54_36p -1 validated missense c.317 p.K106R 1 superfamily_ARM-type_fold "HMMPfam_HEAT,superfamily_ARM-type_fold" - no_errors GLDC 2731 genome.wustl.edu 36 9 6579283 6579283 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 6579283 6579283 C G SNP GLDC NM_000170 human genbank 54_36p -1 validated missense c.1492 p.A498P 1 NULL "HMMPfam_GDC-P,superfamily_PyrdxlP-dep_Trfase_major" - no_errors AQP7P1 375719 genome.wustl.edu 36 9 66963040 66963040 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 66963040 66963040 G T SNP AQP7P1 ENST00000334576 human ensembl 54_36p -1 known missense c.432 p.H144Q 0.03 "HMMPfam_MIP,superfamily_Aquaporin-like" "HMMPfam_MIP,superfamily_Aquaporin-like" - no_errors PGM5 5239 genome.wustl.edu 36 9 70269854 70269854 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 70269854 70269854 G T SNP PGM5 NM_021965 human genbank 54_36p 1 validated missense c.1069 p.V357L 1 "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_III" "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,PatternScan_PGM_PMM,PatternScan_TRYPSIN_HIS,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase C-terminal domain,HMMPfam_PGM_PMM_IV" - no_errors C9orf135 138255 genome.wustl.edu 36 9 71625735 71625735 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 71625735 71625735 G A SNP C9orf135 NM_001010940 human genbank 54_36p 1 validated silent c.120 p.K40 1 NULL NULL - no_errors GDA 9615 genome.wustl.edu 36 9 74049916 74049916 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 74049916 74049916 G A SNP GDA NM_004293 human genbank 54_36p 1 validated missense c.1168 p.E390K 1 HMMPfam_Amidohydro_1 "HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases" - no_errors LOC158345 158345 genome.wustl.edu 36 9 7467699 7467699 + RNA SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 7467699 7467699 A T SNP LOC158345 XR_017130 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ALDH1A1 216 genome.wustl.edu 36 9 74716766 74716766 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 74716766 74716766 C T SNP ALDH1A1 NM_000689 human genbank 54_36p -1 reviewed silent c.1128 p.G376 0.99 "superfamily_ALDH-like,HMMPfam_Aldedh" "superfamily_ALDH-like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors ALDH1A1 216 genome.wustl.edu 36 9 74721788 74721788 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 74721788 74721788 C T SNP ALDH1A1 ENST00000376939 human ensembl 54_36p -1 known missense c.683 p.S228N 0.98 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" - no_errors ALDH1A1 216 genome.wustl.edu 36 9 74733749 74733749 + Silent SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 74733749 74733749 C T SNP ALDH1A1 NM_000689 human genbank 54_36p -1 reviewed silent c.321 p.E107 0.98 "HMMPfam_Aldedh,superfamily_ALDH-like" "HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_ALDH-like" - no_errors RORB 6096 genome.wustl.edu 36 9 76447315 76447315 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 76447315 76447315 A G SNP RORB NM_006914 human genbank 54_36p 1 reviewed missense c.401 p.N134S 1 NULL "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors PCSK5 5125 genome.wustl.edu 36 9 77993897 77993897 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 77993897 77993897 G T SNP PCSK5 NM_006200 human genbank 54_36p 1 reviewed missense c.2448 p.Q816H 1 "superfamily_Growth factor receptor domain,HMMSmart_SM00261" ############################################################################################################################################################################################################################################################### - no_errors GNA14 9630 genome.wustl.edu 36 9 79239201 79239201 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 79239201 79239201 C A SNP GNA14 NM_004297 human genbank 54_36p -1 reviewed nonsense c.367 p.E123* 0.98 "HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" "HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" - no_errors KRT18P24 340460 genome.wustl.edu 36 9 80841793 80841793 + RNA SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 80841793 80841793 T C SNP KRT18P24 XR_016865 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene TLE4 7091 genome.wustl.edu 36 9 81509548 81509548 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 81509548 81509548 C T SNP TLE4 NM_007005 human genbank 54_36p 1 validated nonsense c.640 p.R214* 1 NULL "HMMPfam_TLE_N,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ENSG00000204562 0 genome.wustl.edu 36 9 83722917 83722917 + Silent SNP A A C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 83722917 83722917 A C SNP ENSG00000204562 ENST00000376459 human ensembl 54_36p 1 known silent c.790 p.R264 0 NULL NULL - no_errors FAM75D1 389763 genome.wustl.edu 36 9 83799423 83799423 + Silent SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 83799423 83799423 G A SNP FLJ46321 NM_001001670 human genbank 54_36p 1 validated silent c.4218 p.R1406 0 NULL NULL - no_errors SLC28A3 64078 genome.wustl.edu 36 9 86090263 86090263 + Silent SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 86090263 86090263 G A SNP SLC28A3 NM_022127 human genbank 54_36p -1 provisional silent c.1464 p.Y488 1 HMMPfam_Nucleos_tra2_C "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors NTRK2 4915 genome.wustl.edu 36 9 86760151 86760151 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 86760151 86760151 C T SNP NTRK2 NM_006180 human genbank 54_36p 1 reviewed missense c.2071 p.R691C 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR" ############################################################################################################################################################################################################################################################### - no_errors AGTPBP1 23287 genome.wustl.edu 36 9 87390234 87390234 + Silent SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 87390234 87390234 T A SNP AGTPBP1 NM_015239 human genbank 54_36p -1 validated silent c.3009 p.A1003 0 "superfamily_SSF53187,HMMPfam_Peptidase_M14" "superfamily_ARM-type_fold,superfamily_SSF53187,HMMPfam_Peptidase_M14" - no_errors AGTPBP1 23287 genome.wustl.edu 36 9 87477343 87477343 + Silent SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 87477343 87477343 C T SNP AGTPBP1 NM_015239 human genbank 54_36p -1 validated silent c.510 p.L170 1 superfamily_ARM-type_fold "HMMPfam_Peptidase_M14,superfamily_ARM-type_fold,superfamily_SSF53187" - no_errors AGTPBP1 23287 genome.wustl.edu 36 9 87497523 87497523 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 87497523 87497523 C T SNP AGTPBP1 NM_015239 human genbank 54_36p -1 validated missense c.58 p.G20R 1 superfamily_ARM-type_fold "HMMPfam_Peptidase_M14,superfamily_ARM-type_fold,superfamily_SSF53187" - no_errors NAA35 60560 genome.wustl.edu 36 9 87746931 87746931 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 87746931 87746931 G - DEL MAK10 NM_024635 human genbank 54_36p 1 validated frame_shift_del c.37 p.G13fs 1 NULL HMMPfam_Mak10 "(deletion:cds_exon[87746895,87747018])" no_errors ZCCHC6 79670 genome.wustl.edu 36 9 88127785 88127785 + Silent SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 88127785 88127785 G T SNP ZCCHC6 NM_024617 human genbank 54_36p -1 validated silent c.2700 p.G900 0 NULL "HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2,superfamily_Retrovirus zinc finger-like domains" - no_errors DAPK1 1612 genome.wustl.edu 36 9 89501872 89501872 + Silent SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 9 89501872 89501872 C T SNP DAPK1 NM_004938 human genbank 54_36p 1 reviewed silent c.2544 p.I848 1 superfamily_SSF52540 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF52540,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors C9orf79 286234 genome.wustl.edu 36 9 89690173 89690173 + Silent SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 89690173 89690173 C A SNP C9orf79 NM_178828 human genbank 54_36p 1 validated silent c.951 p.G317 0 NULL NULL - no_errors C9orf79 286234 genome.wustl.edu 36 9 89692843 89692843 + Silent SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 89692843 89692843 C T SNP C9orf79 NM_178828 human genbank 54_36p 1 validated silent c.3621 p.H1207 0 NULL NULL - no_errors LOC645937 645937 genome.wustl.edu 36 9 89749051 89749051 + Silent SNP G A A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 89749051 89749051 G A SNP LOC645937 XM_928905 human genbank 54_36p -1 model silent c.627 p.D209 0.93 NULL NULL - no_errors RPS10P3 158104 genome.wustl.edu 36 9 89821169 89821169 + RNA SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 89821169 89821169 C A SNP RPS10P3 XR_016556 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC401537 401537 genome.wustl.edu 36 9 90129592 90129592 + RNA SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9 90129592 90129592 C T SNP LOC401537 XR_017028 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene S1PR3 1903 genome.wustl.edu 36 9 90806867 90806867 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 90806867 90806867 G T SNP S1PR3 NM_005226 human genbank 54_36p 1 reviewed missense c.932 p.R311L 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SECISBP2 79048 genome.wustl.edu 36 9 91133588 91133588 + Silent SNP A A G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 91133588 91133588 A G SNP SECISBP2 NM_024077 human genbank 54_36p 1 reviewed silent c.768 p.R256 0.17 NULL "superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae" - no_errors SEMA4D 10507 genome.wustl.edu 36 9 91193779 91193779 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 9 91193779 91193779 C T SNP SEMA4D NM_006378 human genbank 54_36p -1 validated missense c.778 p.D260N 1 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors ROR2 4920 genome.wustl.edu 36 9 93527050 93527050 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 93527050 93527050 G A SNP ROR2 NM_004560 human genbank 54_36p -1 reviewed missense c.1547 p.P516L 0.01 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR" - no_errors IARS 3376 genome.wustl.edu 36 9 94052860 94052860 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94052860 94052860 G C SNP IARS NM_002161 human genbank 54_36p -1 reviewed missense c.2385 p.D795E 1 "superfamily_tRNAsyn_1a_bind,HMMPfam_Anticodon_1" "superfamily_SSF52374,HMMPfam_tRNA-synt_1,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS_IleRS_edit,superfamily_tRNAsyn_1a_bind,HMMPfam_Anticodon_1" - no_errors OMD 4958 genome.wustl.edu 36 9 94218967 94218967 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94218967 94218967 G T SNP OMD NM_005014 human genbank 54_36p -1 validated missense c.695 p.P232H 1 "superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00364" "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors IPPK 64768 genome.wustl.edu 36 9 94440220 94440220 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94440220 94440220 C T SNP IPPK NM_022755 human genbank 54_36p -1 validated missense c.800 p.R267Q 0.06 HMMPfam_Ins_P5_2-kin HMMPfam_Ins_P5_2-kin - no_errors IPPK 64768 genome.wustl.edu 36 9 94440330 94440330 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94440330 94440330 C G SNP IPPK NM_022755 human genbank 54_36p -1 validated missense c.690 p.W230C 0.89 HMMPfam_Ins_P5_2-kin HMMPfam_Ins_P5_2-kin - no_errors C9orf129 445577 genome.wustl.edu 36 9 95120651 95120651 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 95120651 95120651 T A SNP C9orf129 NM_001098808 human genbank 54_36p -1 predicted silent c.441 p.A147 0 NULL NULL - no_errors ZNF169 169841 genome.wustl.edu 36 9 96102338 96102338 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 96102338 96102338 G C SNP ZNF169 NM_194320 human genbank 54_36p 1 validated missense c.677 p.S226T 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HIATL1 84641 genome.wustl.edu 36 9 96240563 96240563 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 96240563 96240563 G A SNP HIATL1 NM_032558 human genbank 54_36p 1 validated silent c.327 p.R109 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1" - no_errors FANCC 2176 genome.wustl.edu 36 9 97042810 97042810 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 97042810 97042810 C A SNP FANCC NM_000136 human genbank 54_36p -1 reviewed missense c.287 p.C96F 1 HMMPfam_Fanconi_C HMMPfam_Fanconi_C - no_errors PTCH1 5727 genome.wustl.edu 36 9 97260321 97260321 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 97260321 97260321 A T SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.2963 p.V988E 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors PTCH1 5727 genome.wustl.edu 36 9 97279733 97279733 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 97279733 97279733 C T SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.1420 p.V474I 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors PTCH1 5727 genome.wustl.edu 36 9 97318809 97318809 + Missense_Mutation SNP C G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 9 97318809 97318809 C G SNP PTCH1 NM_001083603 human genbank 54_36p -1 reviewed missense c.115 p.D39H 0.97 NULL "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors DMRT3 58524 genome.wustl.edu 36 9 980732 980732 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 980732 980732 C A SNP DMRT3 NM_021240 human genbank 54_36p 1 validated missense c.1146 p.S382R 1 NULL "superfamily_DM_DNA_bd,HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1,HMMPfam_DMA" - no_errors CDC14B 8555 genome.wustl.edu 36 9 98305889 98305889 + Silent SNP G G A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 98305889 98305889 G A SNP CDC14B NM_033331 human genbank 54_36p -1 reviewed silent c.1464 p.L488 1 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMSmart_SM00404,HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors C9orf174 100499483 genome.wustl.edu 36 9 99125025 99125025 + Splice_Site SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 99125025 99125025 G C SNP KIAA1529 NM_020893 human genbank 54_36p 1 predicted splice_site c.1797+1 e15+1 1 - - - no_errors C9orf174 100499483 genome.wustl.edu 36 9 99132707 99132707 + Nonsense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 99132707 99132707 T G SNP KIAA1529 NM_020893 human genbank 54_36p 1 predicted nonsense c.2660 p.L887* 0 NULL NULL - no_errors TDRD7 23424 genome.wustl.edu 36 9 99277564 99277564 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 99277564 99277564 C T SNP TDRD7 NM_014290 human genbank 54_36p 1 validated nonsense c.2158 p.R720* 0.88 "HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR" "HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR" - no_errors TSTD2 158427 genome.wustl.edu 36 9 99408281 99408281 + Missense_Mutation SNP G T T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 99408281 99408281 G T SNP C9orf97 NM_139246 human genbank 54_36p -1 validated missense c.919 p.L307I 1 "superfamily_Rhodanese/Cell cycle control phosphatase,HMMPfam_Rhodanese,HMMSmart_SM00450" "superfamily_Rhodanese/Cell cycle control phosphatase,HMMPfam_Rhodanese,HMMSmart_SM00450" - no_errors KRT18P13 392371 genome.wustl.edu 36 9 99501544 99501544 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 99501544 99501544 C T SNP KRT18P13 XM_001726959 human genbank 54_36p 1 model missense c.583 p.R195C 1 HMMPfam_Filament HMMPfam_Filament - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HEMGN 55363 genome.wustl.edu 36 9 99733038 99733038 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 99733038 99733038 C A SNP HEMGN NM_018437 human genbank 54_36p -1 validated missense c.460 p.A154S 0.01 NULL NULL - no_errors ENSG00000189002 0 genome.wustl.edu 36 3 90337887 90337887 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 90337887 90337887 C A SNP ENSG00000189002 ENST00000340162 human ensembl 54_36p -1 known missense c.7 p.A3S 0.02 superfamily_ConA_like_lec_gl superfamily_ConA_like_lec_gl - no_errors ENSG00000162685 0 genome.wustl.edu 36 2 91207257 91207257 + Splice_Site SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 91207257 91207257 T G SNP ENSG00000162685 ENST00000294715 human ensembl 54_36p -1 known splice_site c.1-2 e1-2 0 - - - no_start_codon:no_stop_codon LOC100132553 100132553 genome.wustl.edu 36 8 92239546 92239546 + RNA SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 92239546 92239546 A T SNP LOC100132553 XR_038881 human genbank 54_36p 1 model rna NULL NULL 0.92 - - - pseudogene MIR489 574442 genome.wustl.edu 36 7 92951240 92951240 + RNA SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 92951240 92951240 G A SNP MIRN489 ENST00000384923 human ensembl 54_36p -1 known rna NULL NULL 1 - - - no_errors SCARNA9 619383 genome.wustl.edu 36 11 93094641 93094641 + RNA SNP C C G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93094641 93094641 C G SNP SCARNA9 NR_002569 human genbank 54_36p 1 provisional rna NULL NULL 0.01 - - - no_errors ENSG00000197004 0 genome.wustl.edu 36 4 9365900 9365900 + Silent SNP T T A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 9365900 9365900 T A SNP ENSG00000197004 ENST00000355821 human ensembl 54_36p 1 novel silent c.207 p.S69 0.26 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors FOLR4 390243 genome.wustl.edu 36 11 93680014 93680014 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93680014 93680014 T A SNP FOLR4 NM_001080486 human genbank 54_36p 1 inferred missense c.363 p.N121K 0.25 HMMPfam_Folate_rec HMMPfam_Folate_rec - no_errors LOC642943 642943 genome.wustl.edu 36 9 94687941 94687941 + RNA SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94687941 94687941 C A SNP LOC642943 XR_039168 human genbank 54_36p 1 model rna NULL NULL 0.12 - - - pseudogene LOC642943 642943 genome.wustl.edu 36 9 94688065 94688065 + RNA SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94688065 94688065 G T SNP LOC642943 XR_039168 human genbank 54_36p 1 model rna NULL NULL 0.01 - - - pseudogene LOC642943 642943 genome.wustl.edu 36 9 94688720 94688720 + RNA SNP A A G novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 94688720 94688720 A G SNP LOC642943 XR_039168 human genbank 54_36p 1 model rna NULL NULL 0.01 - - - pseudogene ENSG00000187900 0 genome.wustl.edu 36 3 99440079 99440079 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 99440079 99440079 G C SNP ENSG00000187900 ENST00000341450 human ensembl 54_36p 1 known missense c.77 p.S26T 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors uc001dse.1 0 genome.wustl.edu 36 1 99537168 99537168 + Silent SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 99537168 99537168 T A SNP uc001dse.1 ENST00000370184 human ensembl 54_36p 1 known silent c.54 p.I18 0.01 NULL "HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase" - no_errors BTK 695 genome.wustl.edu 36 X 100494971 100494971 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 100494971 100494971 G A SNP BTK NM_000061 human genbank 54_36p -1 reviewed missense c.1775 p.S592F 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" ############################################################################################################################################################################################################################################################### - no_errors LOC653354 653354 genome.wustl.edu 36 X 100739353 100739353 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 100739353 100739353 T A SNP LOC653354 XM_001717888 human genbank 54_36p 1 model nonsense c.251 p.L84* 0.01 HMMPfam_DUF634 HMMPfam_DUF634 - no_errors ZMAT1 84460 genome.wustl.edu 36 X 101039602 101039602 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101039602 101039602 G A SNP ZMAT1 NM_001011657 human genbank 54_36p -1 validated missense c.400 p.L134F 0.99 "HMMSmart_SM00451,HMMPfam_zf-U1,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_SM00451,HMMPfam_zf-U1,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors NXF4 55999 genome.wustl.edu 36 X 101709469 101709469 + RNA SNP T T G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101709469 101709469 T G SNP NXF4 NR_002216 human genbank 54_36p 1 validated rna NULL NULL 1 - - - pseudogene ARMCX5 64860 genome.wustl.edu 36 X 101744756 101744756 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101744756 101744756 C G SNP ARMCX5 NM_022838 human genbank 54_36p 1 provisional missense c.1031 p.T344S 1 "HMMPfam_DUF634,superfamily_ARM repeat" "PatternScan_CPSASE_2,HMMPfam_DUF634,superfamily_ARM repeat" - no_errors GPRASP1 9737 genome.wustl.edu 36 X 101797468 101797468 + Silent SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101797468 101797468 G C SNP GPRASP1 NM_001099410 human genbank 54_36p 1 validated silent c.1971 p.G657 0 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors GPRASP2 114928 genome.wustl.edu 36 X 101857976 101857976 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101857976 101857976 T G SNP GPRASP2 NM_001004051 human genbank 54_36p 1 validated missense c.1523 p.F508C 0.96 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors BHLHB9 80823 genome.wustl.edu 36 X 101890757 101890757 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101890757 101890757 G A SNP BHLHB9 NM_030639 human genbank 54_36p 1 validated missense c.178 p.A60T 0 NULL "superfamily_ARM-type_fold,HMMPfam_DUF634" - no_errors BHLHB9 80823 genome.wustl.edu 36 X 101891283 101891283 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 101891283 101891283 C G SNP BHLHB9 NM_030639 human genbank 54_36p 1 validated missense c.704 p.S235C 0.97 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors TCEAL8 90843 genome.wustl.edu 36 X 102395435 102395435 + Silent SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 102395435 102395435 G A SNP TCEAL8 NM_001006684 human genbank 54_36p -1 reviewed silent c.129 p.S43 0.83 HMMPfam_TFA HMMPfam_TFA - no_errors H2BFM 286436 genome.wustl.edu 36 X 103181350 103181350 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 103181350 103181350 C T SNP H2BFM XM_001723437 human genbank 54_36p 1 model missense c.460 p.R154C 0 "superfamily_Histone-fold,HMMSmart_H2B" "PatternScan_HISTONE_H2B,superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone" - no_errors ZCCHC18 644353 genome.wustl.edu 36 X 103245659 103245659 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 103245659 103245659 A T SNP ZCCHC18 ENST00000299903 human ensembl 54_36p 1 known missense c.201 p.Q67H 1 NULL NULL - no_errors NRK 203447 genome.wustl.edu 36 X 105019014 105019014 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 105019014 105019014 C T SNP NRK ENST00000243300 human ensembl 54_36p 1 known silent c.324 p.S108 0.98 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,HMMSmart_SM00036,HMMPfam_CNH" - no_errors MUM1L1 139221 genome.wustl.edu 36 X 105337315 105337315 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 105337315 105337315 A T SNP MUM1L1 ENST00000337685 human ensembl 54_36p 1 known missense c.1234 p.S412C 1 superfamily_SSF63748 superfamily_SSF63748 - no_errors MUM1L1 139221 genome.wustl.edu 36 X 105337677 105337677 + Silent SNP C C G novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 105337677 105337677 C G SNP MUM1L1 ENST00000337685 human ensembl 54_36p 1 known silent c.1596 p.T532 0.51 NULL superfamily_SSF63748 - no_errors CXorf57 55086 genome.wustl.edu 36 X 105755132 105755132 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 105755132 105755132 C T SNP CXorf57 NM_018015 human genbank 54_36p 1 validated missense c.943 p.P315S 0.96 superfamily_Nucleic acid-binding proteins superfamily_Nucleic acid-binding proteins - no_errors TBC1D8B 54885 genome.wustl.edu 36 X 105950873 105950873 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 105950873 105950873 A G SNP TBC1D8B NM_017752 human genbank 54_36p 1 validated missense c.352 p.K118E 1 NULL "HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors FRMPD3 84443 genome.wustl.edu 36 X 106656544 106656544 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 106656544 106656544 G A SNP FRMPD3 XM_042978 human genbank 54_36p 1 model missense c.169 p.V57I 1 "superfamily_PDZ,HMMPfam_PDZ" "PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" - no_errors FRMPD3 84443 genome.wustl.edu 36 X 106727668 106727668 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 106727668 106727668 C G SNP FRMPD3 XM_042978 human genbank 54_36p 1 model missense c.2002 p.R668G 1 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41" - no_errors VSIG1 340547 genome.wustl.edu 36 X 107196873 107196873 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107196873 107196873 C G SNP VSIG1 NM_182607 human genbank 54_36p 1 provisional missense c.265 p.R89G 0.55 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig" - no_errors COL4A6 1288 genome.wustl.edu 36 X 107291514 107291514 + Nonsense_Mutation SNP C A A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 107291514 107291514 C A SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed nonsense c.4327 p.G1443* 1 HMMPfam_Collagen "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like" - no_errors COL4A6 1288 genome.wustl.edu 36 X 107304483 107304483 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107304483 107304483 G T SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed missense c.2984 p.P995H 0.31 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A6 1288 genome.wustl.edu 36 X 107349615 107349615 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107349615 107349615 A T SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed missense c.296 p.V99D 1 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A5 1287 genome.wustl.edu 36 X 107570073 107570073 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107570073 107570073 G A SNP COL4A5 NM_033380 human genbank 54_36p 1 reviewed missense c.62 p.G21E 1 NULL "HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4" - no_errors COL4A5 1287 genome.wustl.edu 36 X 107817466 107817466 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107817466 107817466 C T SNP COL4A5 NM_033380 human genbank 54_36p 1 reviewed missense c.4414 p.R1472C 1 "HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold" "HMMPfam_C4,HMMSmart_C4,HMMPfam_Collagen,superfamily_C-type_lectin_fold" - no_errors COL4A5 1287 genome.wustl.edu 36 X 107826227 107826227 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107826227 107826227 G A SNP COL4A5 NM_033380 human genbank 54_36p 1 reviewed missense c.5039 p.R1680Q 1 "HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold" "HMMPfam_C4,HMMSmart_C4,HMMPfam_Collagen,superfamily_C-type_lectin_fold" - no_errors IRS4 8471 genome.wustl.edu 36 X 107863319 107863319 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107863319 107863319 G A SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2912 p.P971L 0.06 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors IRS4 8471 genome.wustl.edu 36 X 107863869 107863869 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107863869 107863869 C T SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2362 p.A788T 1 NULL "HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729" - no_errors RGAG1 57529 genome.wustl.edu 36 X 109581565 109581565 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 109581565 109581565 C A SNP RGAG1 NM_020769 human genbank 54_36p 1 provisional missense c.1064 p.P355H 0.1 NULL HMMPfam_Retrotrans_gag - no_errors PAK3 5063 genome.wustl.edu 36 X 110253133 110253133 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 110253133 110253133 G T SNP PAK3 NM_002578 human genbank 54_36p 1 reviewed missense c.146 p.R49L 1 NULL "HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CAPN6 827 genome.wustl.edu 36 X 110382275 110382275 + Silent SNP A A T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 110382275 110382275 A T SNP CAPN6 NM_014289 human genbank 54_36p -1 reviewed silent c.615 p.T205 0.68 "superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2" ############################################################################################################################################################################################################################################################### - no_errors ZCCHC16 340595 genome.wustl.edu 36 X 111585049 111585049 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 111585049 111585049 C T SNP ZCCHC16 NM_001004308 human genbank 54_36p 1 validated missense c.437 p.P146L 0 NULL HMMSmart_ZnF_C2HC - no_errors HTR2C 3358 genome.wustl.edu 36 X 113872086 113872086 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 113872086 113872086 T A SNP HTR2C NM_000868 human genbank 54_36p 1 reviewed missense c.163 p.W55R 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors IL13RA2 3598 genome.wustl.edu 36 X 114151587 114151587 + Silent SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 114151587 114151587 A G SNP IL13RA2 NM_000640 human genbank 54_36p -1 reviewed silent c.582 p.N194 0.9 superfamily_FN_III-like "superfamily_FN_III-like,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2" - no_errors LRCH2 57631 genome.wustl.edu 36 X 114254104 114254104 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 114254104 114254104 T A SNP LRCH2 NM_020871 human genbank 54_36p -1 validated missense c.2229 p.K743N 1 "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH" "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH" - no_errors LUZP4 51213 genome.wustl.edu 36 X 114430672 114430672 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G T G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx X 114430672 114430672 G T SNP LUZP4 NM_016383 human genbank 54_36p 1 validated missense c.91 p.D31Y 0.97 NULL NULL - no_errors LUZP4 51213 genome.wustl.edu 36 X 114444178 114444178 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 114444178 114444178 A T SNP LUZP4 NM_016383 human genbank 54_36p 1 validated missense c.281 p.Q94L 0.01 NULL NULL - no_errors SLC6A14 11254 genome.wustl.edu 36 X 115486270 115486270 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 115486270 115486270 G C SNP SLC6A14 NM_007231 human genbank 54_36p 1 validated missense c.323 p.W108S 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors LOC653155 653155 genome.wustl.edu 36 X 115766826 115766826 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 115766826 115766826 C G SNP LOC653155 XM_926254 human genbank 54_36p -1 model missense c.36 p.M12I 1 NULL HMMPfam_Pkinase - no_errors MSL3 10943 genome.wustl.edu 36 X 11691827 11691827 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 11691827 11691827 C T SNP MSL3 NM_078629 human genbank 54_36p 1 reviewed missense c.757 p.L253F 1 HMMPfam_MRG "HMMSmart_SM00298,HMMPfam_MRG" - no_errors DOCK11 139818 genome.wustl.edu 36 X 117584002 117584002 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 117584002 117584002 A G SNP DOCK11 NM_144658 human genbank 54_36p 1 validated missense c.700 p.K234E 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ded_cyto" - no_errors ZCCHC12 170261 genome.wustl.edu 36 X 117843682 117843682 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 117843682 117843682 G A SNP ZCCHC12 NM_173798 human genbank 54_36p 1 provisional silent c.447 p.V149 1 NULL NULL - no_errors KIAA1210 57481 genome.wustl.edu 36 X 118107527 118107527 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 118107527 118107527 C T SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated missense c.1694 p.G565D 0.01 NULL NULL - no_errors KIAA1210 57481 genome.wustl.edu 36 X 118123066 118123066 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 118123066 118123066 A T SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated missense c.985 p.L329M 0 NULL NULL - no_errors SLC25A5 292 genome.wustl.edu 36 X 118488012 118488012 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 118488012 118488012 G A SNP SLC25A5 NM_001152 human genbank 54_36p 1 validated missense c.472 p.G158S 1 "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" - no_errors LAMP2 3920 genome.wustl.edu 36 X 119466852 119466852 + Splice_Site SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 119466852 119466852 C A SNP LAMP2 NM_002294 human genbank 54_36p -1 reviewed splice_site c.556+1 e4+1 1 - - - no_errors THOC2 57187 genome.wustl.edu 36 X 122588069 122588069 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 122588069 122588069 G T SNP THOC2 NM_001081550 human genbank 54_36p -1 validated missense c.2883 p.D961E 1 NULL NULL - no_errors THOC2 57187 genome.wustl.edu 36 X 122657585 122657585 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 122657585 122657585 C T SNP THOC2 NM_001081550 human genbank 54_36p -1 validated missense c.568 p.D190N 1 NULL NULL - no_errors XIAP 331 genome.wustl.edu 36 X 122847726 122847726 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 122847726 122847726 A G SNP XIAP NM_001167 human genbank 54_36p 1 reviewed missense c.533 p.H178R 0.65 "superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR" "PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_RING" - no_errors STAG2 10735 genome.wustl.edu 36 X 123011736 123011736 + Silent SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 123011736 123011736 C A SNP STAG2 NM_001042749 human genbank 54_36p 1 validated silent c.913 p.R305 0.99 superfamily_ARM-type_fold "HMMPfam_STAG,superfamily_ARM-type_fold" - no_errors ODZ1 10178 genome.wustl.edu 36 X 123345571 123345571 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 123345571 123345571 C A SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6870 p.E2290D 1 NULL "HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat" - no_errors ODZ1 10178 genome.wustl.edu 36 X 123345669 123345669 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 123345669 123345669 C T SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6772 p.A2258T 0.98 HMMPfam_RHS_repeat "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors ODZ1 10178 genome.wustl.edu 36 X 123345863 123345863 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 123345863 123345863 G C SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6578 p.P2193R 1 NULL "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors ODZ1 10178 genome.wustl.edu 36 X 123458777 123458777 + Missense_Mutation SNP A T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 123458777 123458777 A T SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.3465 p.N1155K 1 NULL "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors ODZ1 10178 genome.wustl.edu 36 X 123613594 123613594 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 123613594 123613594 T C SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.1430 p.D477G 0.85 NULL "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors FRMPD4 9758 genome.wustl.edu 36 X 12648667 12648667 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 12648667 12648667 T C SNP FRMPD4 ENST00000304087 human ensembl 54_36p 1 known missense c.4037 p.I1346T 1 NULL "superfamily_WW_Rsp5_WWP,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" - no_start_codon ACTRT1 139741 genome.wustl.edu 36 X 127012919 127012919 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 127012919 127012919 C G SNP ACTRT1 NM_138289 human genbank 54_36p -1 provisional missense c.948 p.K316N 1 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "HMMPfam_Actin,superfamily_SSF53067,HMMSmart_ACTIN" - no_errors KRT18P44 139748 genome.wustl.edu 36 X 127676354 127676354 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 127676354 127676354 G A SNP KRT18P44 XM_001719134 human genbank 54_36p 1 model missense c.727 p.A243T 0.91 NULL HMMPfam_Filament - pseudogene TLR8 51311 genome.wustl.edu 36 X 12848616 12848616 + Silent SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 12848616 12848616 G T SNP TLR8 NM_138636 human genbank 54_36p 1 reviewed silent c.1536 p.L512 1 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_TIR,HMMPfam_TIR" - no_errors TLR8 51311 genome.wustl.edu 36 X 12848802 12848802 + Silent SNP A A T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 12848802 12848802 A T SNP TLR8 NM_138636 human genbank 54_36p 1 reviewed silent c.1722 p.T574 0.81 superfamily_SSF52058 "HMMPfam_TIR,superfamily_TIR,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047,superfamily_SSF52058" - no_errors UTP14A 10813 genome.wustl.edu 36 X 128869021 128869021 + Splice_Site SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 128869021 128869021 C G SNP UTP14A ENST00000394422 human ensembl 54_36p 1 known splice_site c.25-1 e2-1 0.99 - - - no_start_codon BCORL1 63035 genome.wustl.edu 36 X 128974829 128974829 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 128974829 128974829 A T SNP BCORL1 NM_021946 human genbank 54_36p 1 validated missense c.400 p.N134Y 0 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors AIFM1 9131 genome.wustl.edu 36 X 129093440 129093440 + Silent SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 129093440 129093440 G T SNP AIFM1 NM_004208 human genbank 54_36p -1 reviewed silent c.1464 p.P488 0.49 superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain" - no_errors AIFM1 9131 genome.wustl.edu 36 X 129098804 129098804 + Silent SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 129098804 129098804 G C SNP AIFM1 NM_004208 human genbank 54_36p -1 reviewed silent c.1005 p.P335 0.91 "HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,superfamily_FAD/NAD(P)-binding domain" - no_errors GPR119 139760 genome.wustl.edu 36 X 129346190 129346190 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 129346190 129346190 G A SNP GPR119 NM_178471 human genbank 54_36p -1 provisional missense c.913 p.L305F 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ENOX2 10495 genome.wustl.edu 36 X 129599066 129599066 + Splice_Site SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 129599066 129599066 C A SNP ENOX2 NM_182314 human genbank 54_36p -1 reviewed splice_site c.1217-1 e9-1 0.99 - - - no_errors ARHGAP36 158763 genome.wustl.edu 36 X 130048248 130048248 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 130048248 130048248 C A SNP FLJ30058 NM_144967 human genbank 54_36p 1 validated missense c.1414 p.L472I 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors IGSF1 3547 genome.wustl.edu 36 X 130236275 130236275 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 130236275 130236275 G C SNP IGSF1 NM_001555 human genbank 54_36p -1 validated missense c.3730 p.L1244V 0.99 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408" - no_errors MST4 51765 genome.wustl.edu 36 X 131034719 131034719 + Silent SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 131034719 131034719 C T SNP MST4 NM_016542 human genbank 54_36p 1 reviewed silent c.1143 p.L381 0.93 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors MST4 51765 genome.wustl.edu 36 X 131034720 131034720 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 131034720 131034720 G A SNP MST4 NM_016542 human genbank 54_36p 1 reviewed missense c.1144 p.E382K 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors RAP2C 57826 genome.wustl.edu 36 X 131175969 131175969 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 131175969 131175969 C G SNP RAP2C NM_021183 human genbank 54_36p -1 provisional missense c.460 p.D154H 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors ATXN3L 92552 genome.wustl.edu 36 X 13247265 13247265 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 13247265 13247265 C T SNP ATXN3L ENST00000380622 human ensembl 54_36p -1 known missense c.710 p.R237H 1 "HMMPfam_UIM,HMMSmart_UIM" "HMMPfam_Josephin,HMMPfam_UIM,HMMSmart_UIM" - no_errors ATXN3L 92552 genome.wustl.edu 36 X 13247537 13247537 + Silent SNP T T G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 13247537 13247537 T G SNP ATXN3L ENST00000380622 human ensembl 54_36p -1 known silent c.438 p.T146 1 HMMPfam_Josephin "HMMPfam_UIM,HMMSmart_UIM,HMMPfam_Josephin" - no_errors MOSPD1 56180 genome.wustl.edu 36 X 133861042 133861042 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 133861042 133861042 C T SNP MOSPD1 NM_019556 human genbank 54_36p -1 provisional missense c.88 p.D30N 1 "HMMPfam_Motile_Sperm,superfamily_PapD-like" "HMMPfam_Motile_Sperm,superfamily_PapD-like" - no_errors ZNF449 203523 genome.wustl.edu 36 X 134321554 134321554 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 134321554 134321554 C A SNP ZNF449 NM_152695 human genbank 54_36p 1 validated missense c.631 p.Q211K 0 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GPR112 139378 genome.wustl.edu 36 X 135255177 135255177 + Missense_Mutation SNP C T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135255177 135255177 C T SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.1646 p.S549L 0 NULL "superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR112 139378 genome.wustl.edu 36 X 135256374 135256374 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135256374 135256374 G A SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.2843 p.G948E 0 NULL "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_ConA_like_lec_gl,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BRS3 680 genome.wustl.edu 36 X 135400215 135400215 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135400215 135400215 C G SNP BRS3 NM_001727 human genbank 54_36p 1 validated missense c.692 p.S231C 0.7 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTATSF1 27336 genome.wustl.edu 36 X 135407517 135407517 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135407517 135407517 G C SNP HTATSF1 NM_014500 human genbank 54_36p 1 provisional missense c.8 p.G3A 0.63 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors RBMX 27316 genome.wustl.edu 36 X 135785393 135785393 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135785393 135785393 T C SNP RBMX NM_002139 human genbank 54_36p -1 reviewed missense c.559 p.R187G 1 HMMPfam_RBM1CTR "HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,HMMPfam_RBM1CTR" - no_errors GPR101 83550 genome.wustl.edu 36 X 135941269 135941269 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135941269 135941269 G C SNP GPR101 NM_054021 human genbank 54_36p -1 provisional missense c.231 p.D77E 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR101 83550 genome.wustl.edu 36 X 135941474 135941474 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 135941474 135941474 G A SNP GPR101 NM_054021 human genbank 54_36p -1 provisional missense c.26 p.T9M 0.72 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors CSF2RA 1438 genome.wustl.edu 36 X 1367745 1367745 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 1367745 1367745 G A SNP CSF2RA NM_006140 human genbank 54_36p 1 reviewed missense c.437 p.R146H 0 "superfamily_Fibronectin type III,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2" "superfamily_Fibronectin type III,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2" - no_errors FGF13 2258 genome.wustl.edu 36 X 137542740 137542740 + Silent SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 137542740 137542740 C T SNP FGF13 NM_004114 human genbank 54_36p -1 reviewed silent c.675 p.K225 1 NULL "superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors CSF2RA 1438 genome.wustl.edu 36 X 1379504 1379504 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 1379504 1379504 G T SNP CSF2RA NM_006140 human genbank 54_36p 1 reviewed nonsense c.931 p.E311* 0 superfamily_Fibronectin type III "HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2,superfamily_Fibronectin type III" - no_errors ATP11C 286410 genome.wustl.edu 36 X 138678246 138678246 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 138678246 138678246 G A SNP ATP11C NM_173694 human genbank 54_36p -1 validated missense c.2239 p.H747Y 1 superfamily_HAD-like "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors MAGEC2 51438 genome.wustl.edu 36 X 141118730 141118730 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 141118730 141118730 A G SNP MAGEC2 NM_016249 human genbank 54_36p -1 reviewed missense c.710 p.I237T 0.08 HMMPfam_MAGE HMMPfam_MAGE - no_errors SPANXN3 139067 genome.wustl.edu 36 X 142424335 142424335 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 142424335 142424335 G C SNP SPANXN3 NM_001009609 human genbank 54_36p -1 validated missense c.401 p.S134C 0.05 NULL HMMPfam_SPAN-X - no_errors SLITRK2 84631 genome.wustl.edu 36 X 144712039 144712039 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 144712039 144712039 G A SNP SLITRK2 NM_032539 human genbank 54_36p 1 validated missense c.404 p.S135N 1 "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" "HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT" - no_errors SLITRK2 84631 genome.wustl.edu 36 X 144712869 144712869 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 144712869 144712869 G A SNP SLITRK2 NM_032539 human genbank 54_36p 1 validated missense c.1234 p.A412T 1 "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" - no_errors GLRA2 2742 genome.wustl.edu 36 X 14537180 14537180 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 14537180 14537180 G A SNP GLRA2 NM_002063 human genbank 54_36p 1 validated missense c.862 p.A288T 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors FMR1 2332 genome.wustl.edu 36 X 146817604 146817604 + Splice_Site SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 146817604 146817604 G T SNP FMR1 NM_002024 human genbank 54_36p 1 reviewed splice_site c.270+1 e4+1 1 - - - no_errors AFF2 2334 genome.wustl.edu 36 X 147856250 147856250 + Silent SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 147856250 147856250 T C SNP AFF2 NM_002025 human genbank 54_36p 1 validated silent c.3150 p.L1050 0.01 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors MAGEA11 4110 genome.wustl.edu 36 X 148576685 148576685 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 148576685 148576685 G T SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed missense c.574 p.L192I 0 NULL HMMPfam_MAGE - no_errors MTMR1 8776 genome.wustl.edu 36 X 149651706 149651706 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 149651706 149651706 C T SNP MTMR1 NM_003828 human genbank 54_36p 1 reviewed missense c.902 p.T301M 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related" "HMMSmart_SM00568,superfamily_PH domain-like,HMMPfam_GRAM,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors CD99L2 83692 genome.wustl.edu 36 X 149689456 149689456 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 149689456 149689456 C T SNP CD99L2 NM_031462 human genbank 54_36p -1 validated missense c.700 p.V234M 1 NULL NULL - no_errors LOC286456 286456 genome.wustl.edu 36 X 150146369 150146369 + RNA SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150146369 150146369 A T SNP LOC286456 XR_016302 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PASD1 139135 genome.wustl.edu 36 X 150544610 150544610 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150544610 150544610 C T SNP PASD1 NM_173493 human genbank 54_36p 1 validated missense c.581 p.A194V 0 NULL "HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain)" - no_errors PASD1 139135 genome.wustl.edu 36 X 150593173 150593173 + Silent SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150593173 150593173 A T SNP PASD1 NM_173493 human genbank 54_36p 1 validated silent c.2034 p.S678 0 NULL "HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain)" - no_errors PRRG3 79057 genome.wustl.edu 36 X 150619847 150619847 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150619847 150619847 A T SNP PRRG3 NM_024082 human genbank 54_36p 1 provisional missense c.382 p.T128S 0.99 NULL "HMMSmart_GLA,superfamily_VitK_dep_GLA,HMMPfam_Gla,PatternScan_GLA_1" - no_errors PRRG3 79057 genome.wustl.edu 36 X 150619956 150619957 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 - - - T - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150619956 150619957 - T INS PRRG3 NM_024082 human genbank 54_36p 1 provisional frame_shift_ins c.491_492 p.R166fs 0.269:0.274 NULL "HMMPfam_Gla,HMMSmart_GLA,PatternScan_GLA_1,superfamily_VitK_dep_GLA" - no_errors FATE1 89885 genome.wustl.edu 36 X 150641049 150641049 + Silent SNP A A C novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150641049 150641049 A C SNP FATE1 NM_033085 human genbank 54_36p 1 validated silent c.360 p.A120 0 NULL NULL - no_errors GABRE 2564 genome.wustl.edu 36 X 150888815 150888815 + Silent SNP A A T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 150888815 150888815 A T SNP GABRE NM_004961 human genbank 54_36p -1 reviewed silent c.324 p.P108 0.63 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRA3 2556 genome.wustl.edu 36 X 151087577 151087577 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 151087577 151087577 C T SNP GABRA3 NM_000808 human genbank 54_36p -1 reviewed missense c.1258 p.A420T 1 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRQ 55879 genome.wustl.edu 36 X 151571967 151571967 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 151571967 151571967 A G SNP GABRQ NM_018558 human genbank 54_36p 1 reviewed missense c.1466 p.H489R 0.01 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors CSAG1 158511 genome.wustl.edu 36 X 151659815 151659815 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 151659815 151659815 G T SNP CSAG1 NM_001102576 human genbank 54_36p 1 reviewed missense c.188 p.R63M 0.01 NULL NULL - no_errors ZNF185 7739 genome.wustl.edu 36 X 151889641 151889641 + Splice_Site SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 151889641 151889641 A G SNP ZNF185 NM_007150 human genbank 54_36p 1 validated splice_site c.1972-2 e22-2 1 - - - no_errors MAGEA1 4100 genome.wustl.edu 36 X 152135372 152135372 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152135372 152135372 T A SNP MAGEA1 NM_004988 human genbank 54_36p -1 reviewed missense c.833 p.K278I 0 HMMPfam_MAGE HMMPfam_MAGE - no_errors ASB11 140456 genome.wustl.edu 36 X 15216001 15216001 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 15216001 15216001 C G SNP ASB11 NM_080873 human genbank 54_36p -1 reviewed missense c.770 p.R257T 0.03 "superfamily_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SOCS_box" - no_errors ZNF275 10838 genome.wustl.edu 36 X 152265671 152265671 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152265671 152265671 C A SNP ZNF275 NM_001080485 human genbank 54_36p 1 validated missense c.502 p.L168I 0.06 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ATP2B3 492 genome.wustl.edu 36 X 152498933 152498933 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152498933 152498933 G A SNP ATP2B3 NM_001001344 human genbank 54_36p 1 reviewed missense c.3646 p.V1216M 0.98 NULL ############################################################################################################################################################################################################################################################### - no_errors DUSP9 1852 genome.wustl.edu 36 X 152568775 152568775 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152568775 152568775 A T SNP DUSP9 NM_001395 human genbank 54_36p 1 reviewed missense c.976 p.N326Y 1 "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" "PatternScan_TYR_PHOSPHATASE_1,superfamily_Rhodanese-like,HMMSmart_RHOD,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" - no_errors HCFC1 3054 genome.wustl.edu 36 X 152876088 152876088 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152876088 152876088 T C SNP HCFC1 NM_005334 human genbank 54_36p -1 reviewed missense c.2224 p.S742G 1 NULL "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors IRAK1 3654 genome.wustl.edu 36 X 152938100 152938100 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152938100 152938100 G A SNP IRAK1 NM_001569 human genbank 54_36p -1 reviewed missense c.280 p.R94C 0.96 "superfamily_DEATH domain,HMMPfam_Death" "superfamily_DEATH domain,HMMPfam_Death,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TKTL1 8277 genome.wustl.edu 36 X 153196795 153196795 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 153196795 153196795 G A SNP TKTL1 NM_012253 human genbank 54_36p 1 validated missense c.943 p.D315N 1 "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transket_pyr" "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" - no_errors FAM50A 9130 genome.wustl.edu 36 X 153328092 153328092 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153328092 153328092 G A SNP FAM50A NM_004699 human genbank 54_36p 1 provisional missense c.432 p.M144I 1 HMMPfam_XAP5 HMMPfam_XAP5 - no_errors SLC10A3 8273 genome.wustl.edu 36 X 153369636 153369636 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153369636 153369636 C T SNP SLC10A3 NM_019848 human genbank 54_36p -1 reviewed missense c.838 p.D280N 1 HMMPfam_SBF HMMPfam_SBF - no_errors G6PD 2539 genome.wustl.edu 36 X 153415852 153415852 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153415852 153415852 G A SNP G6PD NM_000402 human genbank 54_36p -1 reviewed missense c.629 p.S210F 1 "superfamily_NAD(P)-bd,HMMPfam_G6PD_N" "superfamily_NAD(P)-bd,HMMPfam_G6PD_N,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347,HMMPfam_G6PD_C" - no_errors MPP1 4354 genome.wustl.edu 36 X 153665519 153665519 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153665519 153665519 C G SNP MPP1 NM_002436 human genbank 54_36p -1 reviewed missense c.843 p.K281N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin" - no_errors MPP1 4354 genome.wustl.edu 36 X 153673314 153673314 + Silent SNP T T A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153673314 153673314 T A SNP MPP1 NM_002436 human genbank 54_36p -1 reviewed silent c.249 p.G83 0.98 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,HMMPfam_SH3_2,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors F8 2157 genome.wustl.edu 36 X 153743231 153743231 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153743231 153743231 C G SNP F8 NM_000132 human genbank 54_36p -1 reviewed missense c.6679 p.A2227P 1 "superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C" "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors F8 2157 genome.wustl.edu 36 X 153786280 153786280 + Silent SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 153786280 153786280 C A SNP F8 NM_000132 human genbank 54_36p -1 reviewed silent c.5586 p.L1862 1 superfamily_Cupredoxins "HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins,superfamily_Galactose-binding domain-like,HMMPfam_Cu-oxidase_2,HMMPfam_Cu-oxidase_3" - no_errors CLIC2 1193 genome.wustl.edu 36 X 154181291 154181291 + Splice_Site SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 154181291 154181291 C T SNP CLIC2 NM_001289 human genbank 54_36p -1 reviewed splice_site c.293+1 e3+1 1 - - - no_errors TMLHE 55217 genome.wustl.edu 36 X 154407449 154407449 + Missense_Mutation SNP C T T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 154407449 154407449 C T SNP TMLHE NM_018196 human genbank 54_36p -1 validated missense c.220 p.V74I 1 NULL "superfamily_Clavaminate synthase-like,HMMPfam_TauD" - no_errors BMX 660 genome.wustl.edu 36 X 15450513 15450513 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 15450513 15450513 A C SNP BMX NM_001721 human genbank 54_36p 1 validated missense c.634 p.S212R 0 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors TMEM27 57393 genome.wustl.edu 36 X 15556023 15556023 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 15556023 15556023 G A SNP TMEM27 NM_020665 human genbank 54_36p -1 provisional missense c.661 p.P221S 1 NULL NULL - no_errors GRPR 2925 genome.wustl.edu 36 X 16078640 16078640 + Silent SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 16078640 16078640 A G SNP GRPR NM_005314 human genbank 54_36p 1 reviewed silent c.705 p.K235 0.38 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors BEND2 139105 genome.wustl.edu 36 X 18144655 18144655 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 18144655 18144655 C T SNP BEND2 NM_153346 human genbank 54_36p -1 validated missense c.145 p.V49I 0 NULL HMMPfam_BEN - no_errors MAP3K15 389840 genome.wustl.edu 36 X 19290830 19290831 + Frame_Shift_Del DEL AG AG - novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 AG AG AG - AG AG Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 19290830 19290831 AG - DEL MAP3K15 NM_001001671 human genbank 54_36p -1 validated frame_shift_del c.2051_2050 p.L684fs 0.287:0.230 NULL "HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology" "(deletion:cds_exon[19290777,19290889])" no_errors MAP7D2 256714 genome.wustl.edu 36 X 19938877 19938877 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 19938877 19938877 G A SNP MAP7D2 NM_152780 human genbank 54_36p -1 provisional missense c.2164 p.P722S 1 NULL HMMPfam_MAP7 - no_errors KLHL34 257240 genome.wustl.edu 36 X 21584090 21584090 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 21584090 21584090 T G SNP KLHL34 NM_153270 human genbank 54_36p -1 provisional missense c.1738 p.K580Q 1 superfamily_Gal_oxid_central "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors MBTPS2 51360 genome.wustl.edu 36 X 21771329 21771329 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 21771329 21771329 C T SNP MBTPS2 NM_015884 human genbank 54_36p 1 validated missense c.196 p.R66W 1 NULL "HMMPfam_Peptidase_M50,PatternScan_ZINC_PROTEASE" - no_errors PHEX 5251 genome.wustl.edu 36 X 22025078 22025078 + Splice_Site SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 22025078 22025078 G T SNP PHEX NM_000444 human genbank 54_36p 1 reviewed splice_site c.933+1 e8+1 1 - - - no_errors PHEX 5251 genome.wustl.edu 36 X 22039573 22039573 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 22039573 22039573 C G SNP PHEX NM_000444 human genbank 54_36p 1 reviewed missense c.1147 p.Q383E 1 "superfamily_SSF55486,HMMPfam_Peptidase_M13_N" "superfamily_SSF55486,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,PatternScan_ZINC_PROTEASE" - no_errors PTCHD1 139411 genome.wustl.edu 36 X 23321291 23321291 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 23321291 23321291 A G SNP PTCHD1 NM_173495 human genbank 54_36p 1 validated missense c.1735 p.T579A 1 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors PTCHD1 139411 genome.wustl.edu 36 X 23321597 23321597 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 23321597 23321597 G A SNP PTCHD1 NM_173495 human genbank 54_36p 1 validated missense c.2041 p.V681I 1 "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors DHRSX 207063 genome.wustl.edu 36 X 2336807 2336807 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 2336807 2336807 C T SNP DHRSX NM_145177 human genbank 54_36p -1 validated missense c.265 p.E89K 0.03 "superfamily_NAD(P)-bd,HMMPfam_adh_short" "superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors ACOT9 23597 genome.wustl.edu 36 X 23641194 23641194 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 23641194 23641194 G C SNP ACOT9 NM_001037171 human genbank 54_36p -1 validated missense c.641 p.A214G 1 superfamily_Thioesterase/thiol ester dehydrase-isomerase superfamily_Thioesterase/thiol ester dehydrase-isomerase - no_errors KLHL15 80311 genome.wustl.edu 36 X 23916065 23916065 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 23916065 23916065 C T SNP KLHL15 NM_030624 human genbank 54_36p -1 provisional nonsense c.1709 p.W570* 1 "superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors ZFX 7543 genome.wustl.edu 36 X 24136256 24136256 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 24136256 24136256 A G SNP ZFX NM_003410 human genbank 54_36p 1 validated missense c.941 p.N314S 1 HMMPfam_Zfx_Zfy_act "HMMPfam_Zfx_Zfy_act,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFX 7543 genome.wustl.edu 36 X 24136297 24136297 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 24136297 24136297 G A SNP ZFX NM_003410 human genbank 54_36p 1 validated missense c.982 p.V328I 0.99 HMMPfam_Zfx_Zfy_act "HMMPfam_Zfx_Zfy_act,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors POLA1 5422 genome.wustl.edu 36 X 24642655 24642655 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 24642655 24642655 C T SNP POLA1 NM_016937 human genbank 54_36p 1 validated missense c.392 p.P131L 1 NULL "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B,HMMPfam_zf-DNA_Pol,superfamily_SSF90234" - no_errors MAGEB5 347541 genome.wustl.edu 36 X 26145962 26145962 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 26145962 26145962 C A SNP MAGEB5 XM_293407 human genbank 54_36p 1 model missense c.899 p.A300D 0.01 HMMPfam_MAGE HMMPfam_MAGE - no_errors XG 7499 genome.wustl.edu 36 X 2739383 2739383 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 2739383 2739383 T C SNP XG NM_175569 human genbank 54_36p 1 reviewed missense c.416 p.M139T 0.02 NULL NULL - no_errors DCAF8L1 139425 genome.wustl.edu 36 X 27908086 27908086 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 27908086 27908086 C T SNP WDR42B NM_001017930 human genbank 54_36p -1 provisional silent c.1287 p.K429 1 "superfamily_WD40_like,HMMSmart_WD40" "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" - no_errors DCAF8L1 139425 genome.wustl.edu 36 X 27908187 27908187 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 27908187 27908187 C T SNP WDR42B NM_001017930 human genbank 54_36p -1 provisional missense c.1186 p.V396I 1 "HMMSmart_WD40,superfamily_WD40_like" "HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors IL1RAPL1 11141 genome.wustl.edu 36 X 29848010 29848010 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 29848010 29848010 A C SNP IL1RAPL1 NM_014271 human genbank 54_36p 1 reviewed missense c.935 p.E312A 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors NR0B1 190 genome.wustl.edu 36 X 30236262 30236262 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 30236262 30236262 G A SNP NR0B1 NM_000475 human genbank 54_36p -1 reviewed silent c.1140 p.Y380 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors LOC100130233 100130233 genome.wustl.edu 36 X 32134152 32134152 + RNA SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 32134152 32134152 G T SNP LOC100130233 XR_038856 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene DMD 1756 genome.wustl.edu 36 X 32290831 32290831 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 32290831 32290831 C A SNP DMD NM_004006 human genbank 54_36p -1 reviewed nonsense c.5320 p.G1774* 1 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors DMD 1756 genome.wustl.edu 36 X 32292683 32292683 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 32292683 32292683 C G SNP DMD NM_004006 human genbank 54_36p -1 reviewed missense c.5091 p.Q1697H 0.6 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors DMD 1756 genome.wustl.edu 36 X 32493821 32493821 + Silent SNP G T T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 32493821 32493821 G T SNP DMD NM_004006 human genbank 54_36p -1 reviewed silent c.1911 p.T637 0.98 "HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors DMD 1756 genome.wustl.edu 36 X 32493899 32493899 + Silent SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 32493899 32493899 T C SNP DMD NM_004006 human genbank 54_36p -1 reviewed silent c.1833 p.E611 1 "HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors MXRA5 25878 genome.wustl.edu 36 X 3251268 3251268 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 3251268 3251268 G A SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.2458 p.P820S 0 NULL "HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set" - no_errors MXRA5 25878 genome.wustl.edu 36 X 3251454 3251454 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 3251454 3251454 C T SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.2272 p.V758I 0.01 NULL "HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors DMD 1756 genome.wustl.edu 36 X 32573127 32573127 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 32573127 32573127 C T SNP DMD NM_004006 human genbank 54_36p -1 reviewed missense c.1024 p.D342N 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors MXRA5 25878 genome.wustl.edu 36 X 3258743 3258743 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 3258743 3258743 T G SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.260 p.H87P 1 "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" "HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors FAM47B 170062 genome.wustl.edu 36 X 34872227 34872227 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 34872227 34872227 C G SNP FAM47B NM_152631 human genbank 54_36p 1 predicted missense c.1358 p.S453C 0 NULL NULL - no_errors MAGEB16 139604 genome.wustl.edu 36 X 35730537 35730537 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 35730537 35730537 T A SNP MAGEB16 NM_001099921 human genbank 54_36p 1 provisional missense c.303 p.D101E 0 NULL HMMPfam_MAGE - no_errors FAM47C 442444 genome.wustl.edu 36 X 36937298 36937298 + Silent SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 36937298 36937298 T C SNP FAM47C NM_001013736 human genbank 54_36p 1 provisional silent c.894 p.P298 0.11 NULL NULL - no_errors FAM47C 442444 genome.wustl.edu 36 X 36938205 36938205 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 36938205 36938205 A G SNP FAM47C NM_001013736 human genbank 54_36p 1 provisional missense c.1801 p.T601A 0 NULL NULL - no_errors FAM47C 442444 genome.wustl.edu 36 X 36938334 36938334 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 36938334 36938334 C G SNP FAM47C NM_001013736 human genbank 54_36p 1 provisional missense c.1930 p.P644A 0.65 NULL NULL - no_errors PRRG1 5638 genome.wustl.edu 36 X 37170088 37170088 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 37170088 37170088 A G SNP PRRG1 NM_000950 human genbank 54_36p 1 validated missense c.85 p.R29G 1 "HMMSmart_SM00069,superfamily_GLA-domain,HMMPfam_Gla" "HMMSmart_SM00069,superfamily_GLA-domain,HMMPfam_Gla,PatternScan_GLA_1" - no_errors OTC 5009 genome.wustl.edu 36 X 38096920 38096920 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 38096920 38096920 A T SNP OTC NM_000531 human genbank 54_36p 1 reviewed missense c.27 p.L9F 0.99 NULL "superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace_N,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_OTCace" - no_errors BCOR 54880 genome.wustl.edu 36 X 39807015 39807015 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 39807015 39807015 G A SNP BCOR NM_017745 human genbank 54_36p -1 reviewed silent c.3999 p.H1333 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors DDX3X 1654 genome.wustl.edu 36 X 41091083 41091083 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 41091083 41091083 G C SNP DDX3X NM_001356 human genbank 54_36p 1 reviewed missense c.1643 p.R548T 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors DDX3X 1654 genome.wustl.edu 36 X 41091091 41091091 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 41091091 41091091 A C SNP DDX3X NM_001356 human genbank 54_36p 1 reviewed missense c.1651 p.N551H 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CASK 8573 genome.wustl.edu 36 X 41331178 41331178 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 41331178 41331178 C A SNP CASK NM_003688 human genbank 54_36p -1 validated nonsense c.1240 p.E414* 1 "HMMSmart_L27,HMMPfam_L27" ############################################################################################################################################################################################################################################################### - no_errors CASK 8573 genome.wustl.edu 36 X 41415661 41415661 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 41415661 41415661 C G SNP CASK NM_003688 human genbank 54_36p -1 validated missense c.496 p.A166P 1 "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors MAOA 4128 genome.wustl.edu 36 X 43456951 43456951 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 43456951 43456951 C A SNP MAOA NM_000240 human genbank 54_36p 1 reviewed missense c.467 p.T156N 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" - no_errors MAOB 4129 genome.wustl.edu 36 X 43537718 43537718 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 43537718 43537718 A T SNP MAOB NM_000898 human genbank 54_36p -1 reviewed missense c.820 p.F274I 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" - no_errors ZNF674 641339 genome.wustl.edu 36 X 46245242 46245242 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 46245242 46245242 A T SNP ZNF674 NM_001039891 human genbank 54_36p -1 provisional missense c.726 p.H242Q 0.68 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SLC9A7 84679 genome.wustl.edu 36 X 46351437 46351437 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 46351437 46351437 G A SNP SLC9A7 NM_032591 human genbank 54_36p -1 reviewed missense c.2072 p.T691M 0.85 NULL HMMPfam_Na_H_Exchanger - no_errors SLC9A7 84679 genome.wustl.edu 36 X 46406502 46406502 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 46406502 46406502 T G SNP SLC9A7 NM_032591 human genbank 54_36p -1 reviewed missense c.934 p.T312P 1 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors USP11 8237 genome.wustl.edu 36 X 46986479 46986479 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 46986479 46986479 G A SNP USP11 NM_004651 human genbank 54_36p 1 reviewed missense c.1363 p.V455M 1 "superfamily_SSF54001,HMMPfam_UCH" "HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors SYN1 6853 genome.wustl.edu 36 X 47320545 47320545 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 47320545 47320545 T C SNP SYN1 NM_006950 human genbank 54_36p -1 reviewed missense c.1087 p.I363V 1 "superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_Synapsin_C" "HMMPfam_Synapsin_N,PatternScan_SYNAPSIN_1,HMMPfam_Synapsin,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_Synapsin_C,PatternScan_SYNAPSIN_2" - no_errors ELK1 2002 genome.wustl.edu 36 X 47385680 47385680 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 47385680 47385680 C G SNP ELK1 NM_005229 human genbank 54_36p -1 reviewed missense c.105 p.K35N 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413" "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors ZNF81 347344 genome.wustl.edu 36 X 47659779 47659779 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 47659779 47659779 A G SNP ZNF81 NM_007137 human genbank 54_36p 1 validated missense c.790 p.N264D 0.17 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF182 7569 genome.wustl.edu 36 X 47721099 47721099 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 47721099 47721099 T C SNP ZNF182 NM_006962 human genbank 54_36p -1 validated missense c.1331 p.N444S 0.01 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF182 7569 genome.wustl.edu 36 X 47721660 47721660 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 47721660 47721660 G A SNP ZNF182 NM_006962 human genbank 54_36p -1 validated missense c.770 p.T257M 0.99 superfamily_SSF57667 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors SLC38A5 92745 genome.wustl.edu 36 X 48203063 48203063 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48203063 48203063 G A SNP SLC38A5 NM_033518 human genbank 54_36p -1 validated silent c.1212 p.I404 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors SLC38A5 92745 genome.wustl.edu 36 X 48209620 48209620 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48209620 48209620 G A SNP SLC38A5 NM_033518 human genbank 54_36p -1 validated missense c.353 p.A118V 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors PORCN 64840 genome.wustl.edu 36 X 48254630 48254630 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48254630 48254630 T G SNP PORCN NM_203475 human genbank 54_36p 1 reviewed missense c.140 p.L47W 1 NULL HMMPfam_MBOAT - no_errors WDR13 64743 genome.wustl.edu 36 X 48342974 48342974 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48342974 48342974 G A SNP WDR13 NM_017883 human genbank 54_36p 1 reviewed missense c.448 p.G150R 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors LOC648603 648603 genome.wustl.edu 36 X 48519176 48519176 + RNA SNP G A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48519176 48519176 G A SNP LOC648603 XR_038238 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC648603 648603 genome.wustl.edu 36 X 48519651 48519652 + RNA DNP CC CC AT novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 CC CC CC AT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48519651 48519652 CC AT DNP LOC648603 XR_038238 human genbank 54_36p -1 model rna NULL NULL 1.000:1.000 - - - pseudogene TIMM17B 10245 genome.wustl.edu 36 X 48636199 48636199 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 48636199 48636199 C G SNP TIMM17B NM_005834 human genbank 54_36p -1 validated missense c.358 p.G120R 1 HMMPfam_Tim17 HMMPfam_Tim17 - no_errors PPP1R3F 89801 genome.wustl.edu 36 X 49030032 49030032 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 49030032 49030032 A T SNP PPP1R3F NM_033215 human genbank 54_36p 1 validated missense c.1936 p.M646L 0.13 NULL HMMPfam_CBM_21 - no_errors CLCN5 1184 genome.wustl.edu 36 X 49737438 49737438 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 49737438 49737438 T A SNP CLCN5 NM_000084 human genbank 54_36p 1 reviewed missense c.785 p.V262E 1 "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC" "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMSmart_SM00116,HMMPfam_CBS" - no_errors AKAP4 8852 genome.wustl.edu 36 X 49845232 49845232 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 49845232 49845232 T G SNP AKAP4 NM_003886 human genbank 54_36p -1 reviewed missense c.872 p.E291A 0.04 "HMMSmart_SM00807,HMMPfam_AKAP_110" "HMMSmart_SM00807,HMMPfam_RII_binding_1,HMMPfam_AKAP_110" - no_errors CCNB3 85417 genome.wustl.edu 36 X 50068608 50068608 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 50068608 50068608 G T SNP CCNB3 NM_033031 human genbank 54_36p 1 reviewed missense c.699 p.K233N 0.14 NULL "superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors CCNB3 85417 genome.wustl.edu 36 X 50069949 50069949 + Silent SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 50069949 50069949 T A SNP CCNB3 NM_033031 human genbank 54_36p 1 reviewed silent c.2040 p.V680 0 NULL "HMMPfam_Cyclin_C,HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like" - no_errors BMP15 9210 genome.wustl.edu 36 X 50676045 50676045 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 50676045 50676045 C A SNP BMP15 NM_005448 human genbank 54_36p 1 reviewed missense c.877 p.L293I 0.37 "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB" "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors CXorf67 340602 genome.wustl.edu 36 X 51168014 51168014 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 51168014 51168014 T C SNP LOC340602 NM_203407 human genbank 54_36p 1 predicted missense c.1406 p.L469P 0 NULL NULL - no_errors MAGED1 9500 genome.wustl.edu 36 X 51655066 51655066 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 51655066 51655066 A T SNP MAGED1 NM_001005333 human genbank 54_36p 1 reviewed nonsense c.391 p.K131* 1 NULL HMMPfam_MAGE - no_errors KDM5C 8242 genome.wustl.edu 36 X 53247590 53247590 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53247590 53247590 G A SNP JARID1C NM_004187 human genbank 54_36p -1 reviewed missense c.1928 p.S643F 1 NULL "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1" - no_errors IQSEC2 23096 genome.wustl.edu 36 X 53300626 53300626 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53300626 53300626 C T SNP IQSEC2 NM_015075 human genbank 54_36p -1 validated silent c.597 p.A199 0.59 NULL "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMSmart_PH" - no_errors SMC1A 8243 genome.wustl.edu 36 X 53440141 53440141 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53440141 53440141 C T SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.2684 p.R895H 1 "HMMPfam_SMC_N,superfamily_SSF52540" "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540" - no_errors SMC1A 8243 genome.wustl.edu 36 X 53449184 53449184 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53449184 53449184 C T SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.1877 p.R626H 1 "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540" "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540" - no_errors SMC1A 8243 genome.wustl.edu 36 X 53449317 53449317 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53449317 53449317 C A SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.1744 p.D582Y 1 "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540" "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540" - no_errors HUWE1 10075 genome.wustl.edu 36 X 53594636 53594636 + Silent SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53594636 53594636 C G SNP HUWE1 NM_031407 human genbank 54_36p -1 validated silent c.9336 p.L3112 0.91 NULL "HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HUWE1 10075 genome.wustl.edu 36 X 53594876 53594876 + Splice_Site SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 53594876 53594876 C A SNP HUWE1 NM_031407 human genbank 54_36p -1 validated splice_site c.9097-1 e62-1 1 - - - no_errors WNK3 65267 genome.wustl.edu 36 X 54336306 54336306 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 54336306 54336306 G C SNP WNK3 NM_020922 human genbank 54_36p -1 validated missense c.1873 p.Q625E 1 superfamily_Kinase_like "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors FGD1 2245 genome.wustl.edu 36 X 54489431 54489431 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 54489431 54489431 G C SNP FGD1 NM_004463 human genbank 54_36p -1 reviewed missense c.2722 p.L908V 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors PFKFB1 5207 genome.wustl.edu 36 X 55037157 55037157 + Silent SNP T T G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 55037157 55037157 T G SNP PFKFB1 NM_002625 human genbank 54_36p -1 reviewed silent c.9 p.P3 0.92 NULL "HMMPfam_6PF2K,superfamily_SSF52540,HMMPfam_PGAM,superfamily_SSF53254,PatternScan_PG_MUTASE" - no_errors PAGE2 203569 genome.wustl.edu 36 X 55133768 55133768 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 55133768 55133768 G T SNP PAGE2 NM_207339 human genbank 54_36p 1 provisional missense c.193 p.G65W 0 HMMPfam_GAGE HMMPfam_GAGE - no_errors PAGE2 203569 genome.wustl.edu 36 X 55134516 55134516 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 55134516 55134516 G T SNP PAGE2 NM_207339 human genbank 54_36p 1 provisional nonsense c.220 p.E74* 0 HMMPfam_GAGE HMMPfam_GAGE - no_errors MAGEH1 28986 genome.wustl.edu 36 X 55496032 55496032 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 55496032 55496032 C T SNP MAGEH1 NM_014061 human genbank 54_36p 1 reviewed missense c.500 p.A167V 0.95 HMMPfam_MAGE HMMPfam_MAGE - no_errors USP51 158880 genome.wustl.edu 36 X 55530169 55530169 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 55530169 55530169 C T SNP USP51 NM_201286 human genbank 54_36p -1 validated silent c.1929 p.V643 0 "superfamily_SSF54001,HMMPfam_UCH" "HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors UBQLN2 29978 genome.wustl.edu 36 X 56607897 56607897 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 56607897 56607897 G T SNP UBQLN2 NM_013444 human genbank 54_36p 1 reviewed missense c.866 p.G289V 1 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,HMMSmart_SM00727,superfamily_ARM repeat,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165" - no_errors SPIN3 169981 genome.wustl.edu 36 X 57037963 57037963 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 57037963 57037963 T G SNP SPIN3 NM_001010862 human genbank 54_36p -1 validated missense c.143 p.N48T 1 NULL HMMPfam_Spin-Ssty - no_errors ARHGEF9 23229 genome.wustl.edu 36 X 62815163 62815163 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 62815163 62815163 C A SNP ARHGEF9 NM_015185 human genbank 54_36p -1 validated missense c.576 p.W192C 1 "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF" "PatternScan_DH_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors ARHGEF9 23229 genome.wustl.edu 36 X 62833818 62833818 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 62833818 62833818 A T SNP ARHGEF9 NM_015185 human genbank 54_36p -1 validated missense c.473 p.F158Y 1 "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain" "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors FAM123B 139285 genome.wustl.edu 36 X 63327261 63327261 + Silent SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G A G A G G Unknown Valid Somatic Phase_III Capture Sequenom_PCR_WGA dbGAP Illumina GAIIx X 63327261 63327261 G A SNP FAM123B NM_152424 human genbank 54_36p -1 validated silent c.2631 p.G877 0.02 NULL HMMPfam_WTX - no_errors FAM123B 139285 genome.wustl.edu 36 X 63329595 63329595 + Silent SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 63329595 63329595 C A SNP FAM123B NM_152424 human genbank 54_36p -1 validated silent c.297 p.L99 0.74 HMMPfam_WTX HMMPfam_WTX - no_errors ASB12 142689 genome.wustl.edu 36 X 63361903 63361903 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 63361903 63361903 T C SNP ASB12 NM_130388 human genbank 54_36p -1 reviewed missense c.326 p.H109R 1 "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SOCS_box" - no_errors ASB12 142689 genome.wustl.edu 36 X 63361984 63361984 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 63361984 63361984 A T SNP ASB12 NM_130388 human genbank 54_36p -1 reviewed missense c.245 p.V82D 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_SOCS_box,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors ZC4H2 55906 genome.wustl.edu 36 X 64058528 64058528 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 64058528 64058528 G A SNP ZC4H2 NM_018684 human genbank 54_36p -1 provisional missense c.119 p.S40L 1 HMMPfam_zf-C4H2 HMMPfam_zf-C4H2 - no_errors LAS1L 81887 genome.wustl.edu 36 X 64660776 64660776 + Silent SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 64660776 64660776 C G SNP LAS1L NM_031206 human genbank 54_36p -1 provisional silent c.1185 p.T395 1 NULL HMMPfam_Las1 - no_errors HEPH 9843 genome.wustl.edu 36 X 65326359 65326359 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 65326359 65326359 C T SNP HEPH NM_014799 human genbank 54_36p 1 reviewed missense c.116 p.A39V 1 superfamily_Cupredoxin "superfamily_Cupredoxin,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2" - no_errors HEPH 9843 genome.wustl.edu 36 X 65334323 65334323 + Silent SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 65334323 65334323 C T SNP HEPH NM_014799 human genbank 54_36p 1 reviewed silent c.774 p.A258 0.9 superfamily_Cupredoxin "PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2,superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2,HMMPfam_Cu-oxidase_3" - no_errors HEPH 9843 genome.wustl.edu 36 X 65334415 65334415 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 65334415 65334415 C T SNP HEPH NM_014799 human genbank 54_36p 1 reviewed missense c.866 p.P289L 1 superfamily_Cupredoxin "PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2,superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2,HMMPfam_Cu-oxidase_3" - no_errors AR 367 genome.wustl.edu 36 X 66854056 66854056 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 66854056 66854056 T A SNP AR NM_000044 human genbank 54_36p 1 reviewed missense c.2185 p.L729I 0.98 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMPfam_Androgen_recep,HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors OPHN1 4983 genome.wustl.edu 36 X 67200534 67200534 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 67200534 67200534 G T SNP OPHN1 NM_002547 human genbank 54_36p -1 reviewed missense c.2045 p.T682N 0.92 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors FAM155B 27112 genome.wustl.edu 36 X 68666246 68666246 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 68666246 68666246 A G SNP FAM155B NM_015686 human genbank 54_36p 1 validated missense c.1141 p.T381A 1 NULL NULL - no_errors EDA 1896 genome.wustl.edu 36 X 68753002 68753002 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 68753002 68753002 T G SNP EDA NM_001399 human genbank 54_36p 1 reviewed missense c.125 p.L42R 1 NULL "HMMPfam_Collagen,superfamily_TNF-like,HMMPfam_TNF" - no_errors DGAT2L6 347516 genome.wustl.edu 36 X 69338542 69338542 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 69338542 69338542 G T SNP DGAT2L6 NM_198512 human genbank 54_36p 1 provisional missense c.550 p.V184L 1 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors AWAT1 158833 genome.wustl.edu 36 X 69372713 69372713 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 69372713 69372713 C T SNP AWAT1 NM_001013579 human genbank 54_36p 1 provisional missense c.254 p.T85M 0.99 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors ARR3 407 genome.wustl.edu 36 X 69413276 69413276 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 69413276 69413276 C T SNP ARR3 NM_004312 human genbank 54_36p 1 validated silent c.438 p.F146 1 "superfamily_E set domains,HMMPfam_Arrestin_N" "superfamily_E set domains,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C" - no_errors RAB41 347517 genome.wustl.edu 36 X 69418889 69418889 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 69418889 69418889 A G SNP RAB41 NM_001032726 human genbank 54_36p 1 provisional missense c.97 p.K33E 0.31 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors KIF4A 24137 genome.wustl.edu 36 X 69490214 69490214 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 69490214 69490214 A G SNP KIF4A NM_012310 human genbank 54_36p 1 validated silent c.1506 p.P502 0.44 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors MED12 9968 genome.wustl.edu 36 X 70269528 70269528 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 70269528 70269528 C G SNP MED12 NM_005120 human genbank 54_36p 1 validated missense c.4524 p.H1508Q 1 NULL HMMPfam_Med12 - no_errors NLGN3 54413 genome.wustl.edu 36 X 70304178 70304178 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 70304178 70304178 C G SNP NLGN3 NM_018977 human genbank 54_36p 1 validated nonsense c.1446 p.Y482* 1 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2" - no_errors TAF1 6872 genome.wustl.edu 36 X 70519672 70519672 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 70519672 70519672 G A SNP TAF1 NM_004606 human genbank 54_36p 1 reviewed missense c.1940 p.G647D 1 NULL "HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors TAF1 6872 genome.wustl.edu 36 X 70544593 70544593 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 70544593 70544593 C G SNP TAF1 NM_004606 human genbank 54_36p 1 reviewed missense c.4311 p.D1437E 1 "HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1" "HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_TBP-binding,superfamily_TAF_II_230,PatternScan_BROMODOMAIN_1" - no_errors TAF1 6872 genome.wustl.edu 36 X 70596264 70596264 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 70596264 70596264 A C SNP TAF1 NM_004606 human genbank 54_36p 1 reviewed missense c.5262 p.E1754D 1 NULL "HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_TBP-binding,superfamily_TAF_II_230,PatternScan_BROMODOMAIN_1" - no_errors ACRC 93953 genome.wustl.edu 36 X 70740470 70740470 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 70740470 70740470 C T SNP ACRC NM_052957 human genbank 54_36p 1 validated silent c.618 p.D206 0.04 NULL "HMMSmart_SM00731,HMMPfam_SprT-like" - no_errors CXCR3 2833 genome.wustl.edu 36 X 70754028 70754028 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 70754028 70754028 C T SNP CXCR3 NM_001504 human genbank 54_36p -1 reviewed missense c.19 p.D7N 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RGAG4 340526 genome.wustl.edu 36 X 71267391 71267391 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 71267391 71267391 C T SNP RGAG4 NM_001024455 human genbank 54_36p -1 provisional missense c.725 p.R242H 0.88 HMMPfam_Retrotrans_gag HMMPfam_Retrotrans_gag - no_errors PHKA1 5255 genome.wustl.edu 36 X 71747725 71747725 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 71747725 71747725 G A SNP PHKA1 NM_002637 human genbank 54_36p -1 validated missense c.2404 p.R802W 0.07 HMMPfam_PHK_AB "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" - no_errors LOC728748 728748 genome.wustl.edu 36 X 73536032 73536032 + RNA SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 73536032 73536032 T C SNP LOC728748 XR_037583 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene KIAA2022 340533 genome.wustl.edu 36 X 73876714 73876714 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 73876714 73876714 T C SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated missense c.4403 p.E1468G 1 NULL NULL - no_errors KIAA2022 340533 genome.wustl.edu 36 X 73880405 73880405 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 73880405 73880405 C A SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated missense c.712 p.A238S 1 NULL NULL - no_errors KIAA2022 340533 genome.wustl.edu 36 X 73882145 73882145 + Silent SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 73882145 73882145 C T SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated silent c.66 p.G22 1 NULL NULL - no_errors MAGEE2 139599 genome.wustl.edu 36 X 74920217 74920228 + In_Frame_Del DEL AAGCTCATATTC AAGCTCATATTC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 AAGCTCATATTC AAGCTCATATTC AAGCTCATATTC - AAGCTCATATTC AAGCTCATATTC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 74920217 74920228 AAGCTCATATTC - DEL MAGEE2 NM_138703 human genbank 54_36p -1 validated in_frame_del c.1395_1384 p.EYEL462in_frame_del 0.994:0.996:0.999:1.000:1.000:0.999:0.998:0.999:0.998:0.998:0.998:0.997 HMMPfam_MAGE HMMPfam_MAGE "(deletion:cds_exon[74920040,74921611])" no_errors MAGEE1 57692 genome.wustl.edu 36 X 75566885 75566885 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 75566885 75566885 G C SNP MAGEE1 NM_020932 human genbank 54_36p 1 validated missense c.2158 p.E720Q 0.01 NULL HMMPfam_MAGE - no_errors LPAR4 2846 genome.wustl.edu 36 X 77897606 77897606 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 77897606 77897606 G A SNP LPAR4 NM_005296 human genbank 54_36p 1 reviewed missense c.584 p.R195H 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LPAR4 2846 genome.wustl.edu 36 X 77897941 77897941 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 77897941 77897941 G C SNP LPAR4 NM_005296 human genbank 54_36p 1 reviewed missense c.919 p.D307H 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors LPAR4 2846 genome.wustl.edu 36 X 77897941 77897941 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 77897941 77897941 G T SNP LPAR4 NM_005296 human genbank 54_36p 1 reviewed missense c.919 p.D307Y 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors P2RY10 27334 genome.wustl.edu 36 X 78103370 78103370 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 78103370 78103370 C A SNP P2RY10 NM_014499 human genbank 54_36p 1 reviewed missense c.697 p.Q233K 0.86 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors LOC727874 727874 genome.wustl.edu 36 X 79703680 79703680 + RNA SNP C C T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 79703680 79703680 C T SNP LOC727874 XR_042356 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene BRWD3 254065 genome.wustl.edu 36 X 79823651 79823651 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 79823651 79823651 G C SNP BRWD3 NM_153252 human genbank 54_36p -1 validated nonsense c.4499 p.S1500* 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors SH3BGRL 6451 genome.wustl.edu 36 X 80419192 80419192 + Silent SNP A G G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 80419192 80419192 A G SNP SH3BGRL NM_003022 human genbank 54_36p 1 validated silent c.99 p.G33 1 "HMMPfam_SH3BGR,superfamily_Thioredoxin-like" "HMMPfam_SH3BGR,superfamily_Thioredoxin-like" - no_errors CYLC1 1538 genome.wustl.edu 36 X 83014899 83014899 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 83014899 83014899 A T SNP CYLC1 NM_021118 human genbank 54_36p 1 provisional missense c.527 p.K176I 0.01 NULL NULL - no_errors CYLC1 1538 genome.wustl.edu 36 X 83015558 83015558 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 83015558 83015558 A C SNP CYLC1 NM_021118 human genbank 54_36p 1 provisional missense c.1186 p.K396Q 0.99 NULL NULL - no_errors ZNF711 7552 genome.wustl.edu 36 X 84406028 84406028 + Silent SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 84406028 84406028 G A SNP ZNF711 NM_021998 human genbank 54_36p 1 reviewed silent c.714 p.G238 1 HMMPfam_Zfx_Zfy_act "HMMPfam_Zfx_Zfy_act,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF711 7552 genome.wustl.edu 36 X 84412933 84412933 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 84412933 84412933 C A SNP ZNF711 NM_021998 human genbank 54_36p 1 reviewed missense c.1729 p.L577I 1 "HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_Zfx_Zfy_act,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF711 7552 genome.wustl.edu 36 X 84413035 84413035 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 84413035 84413035 T C SNP ZNF711 NM_021998 human genbank 54_36p 1 reviewed missense c.1831 p.S611P 1 "HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_Zfx_Zfy_act,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors LOC441505 441505 genome.wustl.edu 36 X 85227167 85227167 + RNA SNP C C G novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx X 85227167 85227167 C G SNP LOC441505 XR_016229 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene DACH2 117154 genome.wustl.edu 36 X 85957759 85957759 + Splice_Site SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 85957759 85957759 G T SNP DACH2 NM_053281 human genbank 54_36p 1 reviewed splice_site c.1750+1 e11+1 1 - - - no_errors KLHL4 56062 genome.wustl.edu 36 X 86759705 86759705 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 86759705 86759705 C A SNP KLHL4 NM_057162 human genbank 54_36p 1 reviewed missense c.842 p.P281H 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors TGIF2LX 90316 genome.wustl.edu 36 X 89063758 89063758 + Silent SNP C T T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 89063758 89063758 C T SNP TGIF2LX NM_138960 human genbank 54_36p 1 reviewed silent c.18 p.D6 0 NULL "PatternScan_HOMEOBOX_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors PABPC5 140886 genome.wustl.edu 36 X 90577669 90577669 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 90577669 90577669 G C SNP PABPC5 NM_080832 human genbank 54_36p 1 validated missense c.437 p.G146A 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RRM_1" "HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00361" - no_errors LOC401602 401602 genome.wustl.edu 36 X 92364563 92364563 + RNA SNP G G C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 92364563 92364563 G C SNP LOC401602 XR_016272 human genbank 54_36p -1 model rna NULL NULL 0.57 - - - pseudogene LOC401602 401602 genome.wustl.edu 36 X 92365726 92365726 + RNA SNP T T A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 92365726 92365726 T A SNP LOC401602 XR_016272 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC643310 643310 genome.wustl.edu 36 X 92429618 92429618 + RNA SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 92429618 92429618 G A SNP LOC643310 XR_038903 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC643310 643310 genome.wustl.edu 36 X 92430081 92430081 + RNA SNP A A T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 92430081 92430081 A T SNP LOC643310 XR_038903 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC100132243 100132243 genome.wustl.edu 36 X 9339130 9339130 + RNA SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 9339130 9339130 G C SNP LOC100132243 XR_037396 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC643486 643486 genome.wustl.edu 36 X 95479221 95479221 + RNA SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 95479221 95479221 C G SNP LOC643486 NR_003539 human genbank 54_36p -1 provisional rna NULL NULL 0.97 - - - pseudogene RPA4 29935 genome.wustl.edu 36 X 96026140 96026140 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx X 96026140 96026140 G T SNP RPA4 NM_013347 human genbank 54_36p 1 reviewed missense c.175 p.V59L 0 superfamily_Nucleic_acid_OB "superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_RPA_C,superfamily_SSF46785" - no_errors DIAPH2 1730 genome.wustl.edu 36 X 96072406 96072406 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 96072406 96072406 A T SNP DIAPH2 NM_006729 human genbank 54_36p 1 reviewed missense c.997 p.I333L 1 HMMPfam_Drf_FH3 "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,HMMPfam_Drf_DAD" - no_errors DIAPH2 1730 genome.wustl.edu 36 X 96283423 96283423 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 96283423 96283423 T C SNP DIAPH2 NM_006729 human genbank 54_36p 1 reviewed missense c.2693 p.L898P 1 "HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" "HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" - no_errors SHROOM2 357 genome.wustl.edu 36 X 9860271 9860271 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 9860271 9860271 G C SNP SHROOM2 NM_001649 human genbank 54_36p 1 reviewed missense c.2948 p.S983T 0 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2" - no_errors PCDH19 57526 genome.wustl.edu 36 X 99438459 99438459 + Silent SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 99438459 99438459 G A SNP PCDH19 NM_001105243 human genbank 54_36p -1 validated silent c.2778 p.P926 1 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDH19 57526 genome.wustl.edu 36 X 99549239 99549239 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 99549239 99549239 T A SNP PCDH19 NM_001105243 human genbank 54_36p -1 validated missense c.1013 p.D338V 1 "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors TSPAN6 7105 genome.wustl.edu 36 X 99775091 99775091 + Silent SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 99775091 99775091 A C SNP TSPAN6 NM_003270 human genbank 54_36p -1 reviewed silent c.552 p.T184 0.29 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors SYTL4 94121 genome.wustl.edu 36 X 99828803 99828803 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 99828803 99828803 C G SNP SYTL4 NM_080737 human genbank 54_36p -1 validated missense c.1101 p.E367D 0.12 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors WWC3 55841 genome.wustl.edu 36 X 9995469 9995469 + Silent SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 9995469 9995469 C T SNP WWC3 NM_015691 human genbank 54_36p 1 validated silent c.159 p.A53 0.42 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors ENSG00000183704 0 genome.wustl.edu 36 Y 11960742 11960742 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx Y 11960742 11960742 G A SNP ENSG00000183704 ENST00000331172 human ensembl 54_36p -1 known nonsense c.535 p.R179* 0.04 NULL NULL - no_stop_codon EVI5 7813 genome.wustl.edu 36 1 92941593 92941594 + Missense_Mutation DNP AG AG GA novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 AG AG AG GA AG AG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 92941593 92941594 AG GA DNP EVI5 NM_005665 human genbank 54_36p -1 validated missense c.643_642 p.F215L 1.000:0.986 "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors L3MBTL2 83746 genome.wustl.edu 36 22 39935678 39935679 + Missense_Mutation DNP GG GG AA novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 GG GG GG AA GG GG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 22 39935678 39935679 GG AA DNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated missense c.57_58 p.E20K 1.000:1.000 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT" - no_errors LIMS1 3987 genome.wustl.edu 36 2 108642556 108642557 + Nonsense_Mutation DNP TG TG CT novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 TG TG TG CT TG TG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 108642556 108642557 TG CT DNP LIMS1 NM_004987 human genbank 54_36p 1 reviewed nonsense c.60_61 p.EK21* 0.773:1.000 "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors NDNL2 56160 genome.wustl.edu 36 15 27348490 27348491 + Missense_Mutation DNP TC TC AT novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 TC TC TC AT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 27348490 27348491 TC AT DNP NDNL2 NM_138704 human genbank 54_36p -1 reviewed missense c.712_711 p.I238L 0.940:0.938 HMMPfam_MAGE HMMPfam_MAGE - no_errors PELI1 57162 genome.wustl.edu 36 2 64175553 64175554 + Missense_Mutation DNP TC TC AT novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 TC TC TC AT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 64175553 64175554 TC AT DNP PELI1 NM_020651 human genbank 54_36p -1 validated missense c.1044_1043 p.G348D 1.000:1.000 HMMPfam_Pellino HMMPfam_Pellino - no_errors PHLPP2 23035 genome.wustl.edu 36 16 70294104 70294105 + Missense_Mutation DNP TC TC AA novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 TC TC TC AA TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 70294104 70294105 TC AA DNP PHLPPL NM_015020 human genbank 54_36p -1 validated missense c.316_315 p.QI105HF 1.000:1.000 NULL "superfamily_PH domain-like,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C" - no_errors PRSS27 83886 genome.wustl.edu 36 16 2704190 2704191 + Nonsense_Mutation DNP CC CC AG novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 CC CC CC AG CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2704190 2704191 CC AG DNP PRSS27 NM_031948 human genbank 54_36p -1 validated nonsense c.385_384 p.EL129* 0.985:0.986 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors SLC39A11 201266 genome.wustl.edu 36 17 68596423 68596424 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 CC CC CC AG CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 68596423 68596424 CC AG DNP SLC39A11 NM_139177 human genbank 54_36p -1 provisional missense c.76_75 p.A26S 0.997:0.971 HMMPfam_Zip HMMPfam_Zip - no_errors THBS1 7057 genome.wustl.edu 36 15 37662126 37662127 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 37662126 37662127 GA TT DNP THBS1 NM_003246 human genbank 54_36p 1 reviewed missense c.508_509 p.D170F 1.000:1.000 "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases" ############################################################################################################################################################################################################################################################### - no_errors ZNF295 49854 genome.wustl.edu 36 21 42287270 42287271 + Nonsense_Mutation DNP CC CC AG novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 CC CC CC AG CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 42287270 42287271 CC AG DNP ZNF295 NM_001098402 human genbank 54_36p -1 validated nonsense c.4_3 p.MEG1I* 1.000:1.000 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CCDC136 64753 genome.wustl.edu 36 7 128237616 128237635 + In_Frame_Del DEL ATTCCAAATTGGCTAAGTCC ATTCCAAATTGGCTAAGTCC TGTAA novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 ATTCCAAATTGGCTAAGTCC ATTCCAAATTGGCTAAGTCC ATTCCAAATTGGCTAAGTCC TGTAA ATTCCAAATTGGCTAAGTCC ATTCCAAATTGGCTAAGTCC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128237616 128237635 ATTCCAAATTGGCTAAGTCC TCTAA DEL CCDC136 NM_022742 human genbank 54_36p 1 validated in_frame_del c.1988_2007 p.DSKLAKSSKC663in_frame_delVQM 0.003:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.258:0.264:0.450:0.488:0.616:0.617:0.614:0.565 NULL "superfamily_Prefoldin,superfamily_Spectrin repeat" "(deletion:cds_exon[128237429,128237656])" no_errors MFAP3L 9848 genome.wustl.edu 36 4 171163500 171163525 + In_Frame_Del DEL GTGCTGTTAGTCACACTCTTAGCGGT GTGCTGTTAGTCACACTCTTAGCGGT GTTAGTTA novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 GTGCTGTTAGTCACACTCTTAGCGGT GTGCTGTTAGTCACACTCTTAGCGGT GTGCTGTTAGTCACACTCTTAGCGGT GTTAGTTA GTGCTGTTAGTCACACTCTTAGCGGT GTGCTGTTAGTCACACTCTTAGCGGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 171163500 171163525 GTGCTGTTAGTCACACTCTTAGCGGT GTTAGTTA DEL MFAP3L NM_021647 human genbank 54_36p -1 validated in_frame_del c.104_79 p.TAKSVTNSTLNG27in_frame_delFKW 1.000:1.000:1.000:0.998:0.944:0.668:0.633:0.579:0.285:0.317:0.303:0.216:0.167:0.080:0.025:0.015:0.010:0.004:0.006:0.020:0.160:0.416:0.413:0.188:0.181:0.055 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "(deletion:cds_exon[171163306,171163603])" no_errors SLC13A1 6561 genome.wustl.edu 36 7 122595801 122595803 + Frame_Shift_Del DEL CTG CTG AT novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 CTG CTG CTG AT CTG CTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 122595801 122595803 CTG AT DEL SLC13A1 NM_022444 human genbank 54_36p -1 validated frame_shift_del c.604_602 p.P201fs 0.977:0.982:0.976 HMMPfam_Na_sulph_symp "HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE" "(deletion:cds_exon[122595794,122595851])" no_errors SLC39A6 25800 genome.wustl.edu 36 18 31956136 31956137 + Frame_Shift_Del DEL TA TA - novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 TA TA TA - TA TA Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 18 31956136 31956137 TA - DEL SLC39A6 NM_012319 human genbank 54_36p -1 validated frame_shift_del c.1236_1235 p.I412fs 0.981:0.972 HMMPfam_Zip HMMPfam_Zip "(deletion:cds_exon[31956013,31956231])" no_errors ACE2 59272 hgsc.bcm.edu 36 X 15495857 15495857 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 15495857 15495857 T A SNP ACE2 NM_021804 human genbank 54_36p -1 reviewed missense c.1910 p.D637V 0.96 NULL "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ACSL4 2182 hgsc.bcm.edu 36 X 108810946 108810946 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 108810946 108810946 G T SNP ACSL4 NM_022977 human genbank 54_36p -1 reviewed missense c.715 p.P239T 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors AFF2 2334 hgsc.bcm.edu 36 X 147856866 147856866 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G T T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 147856866 147856866 G T SNP AFF2 NM_002025 human genbank 54_36p 1 validated missense c.3217 p.D1073Y 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors AGTR2 186 hgsc.bcm.edu 36 X 115218213 115218213 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 115218213 115218213 C A SNP AGTR2 NM_000686 human genbank 54_36p 1 validated missense c.652 p.L218I 0.72 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors AGTR2 186 hgsc.bcm.edu 36 X 115218610 115218610 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 115218610 115218610 G A SNP AGTR2 NM_000686 human genbank 54_36p 1 validated missense c.1049 p.R350Q 0.01 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors AMOT 154796 hgsc.bcm.edu 36 X 111908519 111908519 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 111908519 111908519 C G SNP AMOT NM_133265 human genbank 54_36p -1 reviewed missense c.1960 p.E654Q 1 NULL NULL - no_errors AMOT 154796 hgsc.bcm.edu 36 X 111910973 111910973 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 111910973 111910973 T G SNP AMOT NM_133265 human genbank 54_36p -1 reviewed missense c.1043 p.E348A 1 NULL NULL - no_errors ARHGAP6 395 hgsc.bcm.edu 36 X 11097617 11097617 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 11097617 11097617 G A SNP ARHGAP6 NM_013427 human genbank 54_36p -1 reviewed missense c.1738 p.R580W 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324" "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGEF9 23229 hgsc.bcm.edu 36 X 62842964 62842964 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 62842964 62842964 C A SNP ARHGEF9 NM_015185 human genbank 54_36p -1 validated missense c.280 p.G94W 1 "superfamily_SH3,superfamily_DH-domain" "PatternScan_DH_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors ARMCX2 9823 hgsc.bcm.edu 36 X 100798157 100798157 + Silent SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 100798157 100798157 G C SNP ARMCX2 NM_014782 human genbank 54_36p -1 reviewed silent c.1074 p.T358 0.95 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_DUF634" - no_errors ARMCX2 9823 hgsc.bcm.edu 36 X 100798969 100798969 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 100798969 100798969 A C SNP ARMCX2 NM_014782 human genbank 54_36p -1 reviewed missense c.262 p.S88A 0.03 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ARR3 407 hgsc.bcm.edu 36 X 69406460 69406460 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 69406460 69406460 G C SNP ARR3 NM_004312 human genbank 54_36p 1 validated missense c.82 p.D28H 1 "superfamily_E set domains,HMMPfam_Arrestin_N" "superfamily_E set domains,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C" - no_errors ARSF 416 hgsc.bcm.edu 36 X 3012505 3012505 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 3012505 3012505 G A SNP ARSF NM_004042 human genbank 54_36p 1 reviewed missense c.628 p.G210S 0 "superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase" "superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2" - no_errors ARSF 416 hgsc.bcm.edu 36 X 3029221 3029221 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 3029221 3029221 G A SNP ARSF NM_004042 human genbank 54_36p 1 reviewed missense c.1061 p.R354Q 0 "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like" "HMMPfam_Sulfatase,PatternScan_SULFATASE_2,PatternScan_SULFATASE_1,superfamily_Alkaline phosphatase-like" - no_errors ASB11 140456 hgsc.bcm.edu 36 X 15215980 15215980 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 15215980 15215980 G T SNP ASB11 NM_080873 human genbank 54_36p -1 reviewed missense c.791 p.A264E 0.94 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SOCS_box" - no_errors ATP11C 286410 hgsc.bcm.edu 36 X 138671799 138671799 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 138671799 138671799 T A SNP ATP11C NM_173694 human genbank 54_36p -1 validated missense c.2636 p.Y879F 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP1B4 23439 hgsc.bcm.edu 36 X 119380053 119380053 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 119380053 119380053 T G SNP ATP1B4 NM_012069 human genbank 54_36p 1 validated missense c.2 p.M1R 1 NULL "PatternScan_ATPASE_NA_K_BETA_1,HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_2" - no_errors ATP6AP1 537 hgsc.bcm.edu 36 X 153315926 153315926 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 153315926 153315926 T G SNP ATP6AP1 NM_001183 human genbank 54_36p 1 reviewed missense c.863 p.L288R 0.01 HMMPfam_ATP-synt_S1 HMMPfam_ATP-synt_S1 - no_errors ATRX 546 hgsc.bcm.edu 36 X 76664503 76664503 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 76664503 76664503 T C SNP ATRX NM_000489 human genbank 54_36p -1 reviewed missense c.6869 p.N2290S 1 NULL "superfamily_FYVE/PHD zinc finger,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors ATRX 546 hgsc.bcm.edu 36 X 76805671 76805671 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 76805671 76805671 A - DEL ATRX NM_000489 human genbank 54_36p -1 reviewed frame_shift_del c.3976 p.S1326fs 1 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" "(deletion:cds_exon[76805527,76805703])" no_errors AVPR2 554 hgsc.bcm.edu 36 X 152824648 152824657 + Frame_Shift_Del DEL CCTTCTCGCT CCTTCTCGCT - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 CCTTCTCGCT CCTTCTCGCT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 152824648 152824657 CCTTCTCGCT - DEL AVPR2 NM_000054 human genbank 54_36p 1 reviewed frame_shift_del c.494_503 p.L168fs 0.995:0.987:0.985:0.993:0.993:0.995:0.984:0.670:0.663:0.638 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[152824180,152825064])" no_errors AWAT1 158833 hgsc.bcm.edu 36 X 69376481 69376481 + Silent SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 69376481 69376481 G A SNP AWAT1 NM_001013579 human genbank 54_36p 1 provisional silent c.804 p.L268 1 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors BCORL1 63035 hgsc.bcm.edu 36 X 128977166 128977166 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 128977166 128977166 A G SNP BCORL1 NM_021946 human genbank 54_36p 1 validated missense c.2737 p.K913E 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors BEND2 139105 hgsc.bcm.edu 36 X 18123369 18123369 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 18123369 18123369 G C SNP BEND2 NM_153346 human genbank 54_36p -1 validated missense c.1148 p.A383G 0 NULL HMMPfam_BEN - no_errors BRWD3 254065 hgsc.bcm.edu 36 X 79875622 79875622 + Silent SNP G G A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 79875622 79875622 G A SNP BRWD3 NM_153252 human genbank 54_36p -1 validated silent c.1116 p.N372 1 "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors CACNA1F 778 hgsc.bcm.edu 36 X 48971729 48971729 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 48971729 48971729 G C SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed missense c.942 p.D314E 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CD99L2 83692 hgsc.bcm.edu 36 X 149689474 149689474 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 149689474 149689474 C T SNP CD99L2 NM_031462 human genbank 54_36p -1 validated missense c.682 p.G228R 1 NULL NULL - no_errors CFP 5199 hgsc.bcm.edu 36 X 47374178 47374178 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 47374178 47374178 C T SNP CFP NM_002621 human genbank 54_36p -1 reviewed missense c.10 p.E4K 0 NULL "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1" - no_errors CLCN4 1183 hgsc.bcm.edu 36 X 10113170 10113170 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T T A T T Unknown Valid Somatic Phase_IV Capture SOLID SOLID X 10113170 10113170 T A SNP CLCN4 NM_001830 human genbank 54_36p 1 reviewed missense c.98 p.I33N 1 NULL "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMSmart_SM00116,HMMPfam_CBS" - no_errors CLCN4 1183 hgsc.bcm.edu 36 X 10126092 10126092 + Silent SNP C C A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 10126092 10126092 C A SNP CLCN4 NM_001830 human genbank 54_36p 1 reviewed silent c.546 p.G182 0.88 "HMMPfam_Voltage_CLC,superfamily_Clc chloride channel" "HMMPfam_CBS,HMMSmart_SM00116,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain" - no_errors COL4A6 1288 hgsc.bcm.edu 36 X 107292893 107292893 + Silent SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 107292893 107292893 T C SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed silent c.4104 p.Q1368 0.06 HMMPfam_Collagen "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like" - no_errors CPXCR1 53336 hgsc.bcm.edu 36 X 87895124 87895124 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 87895124 87895124 A T SNP CPXCR1 NM_033048 human genbank 54_36p 1 validated missense c.53 p.N18I 0.33 NULL HMMSmart_ZnF_C2H2 - no_errors CPXCR1 53336 hgsc.bcm.edu 36 X 87895687 87895687 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 87895687 87895687 C T SNP CPXCR1 NM_033048 human genbank 54_36p 1 validated missense c.616 p.R206C 0 NULL HMMSmart_ZnF_C2H2 - no_errors CTPS2 56474 hgsc.bcm.edu 36 X 16545276 16545276 + Silent SNP C C G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 16545276 16545276 C G SNP CTPS2 NM_019857 human genbank 54_36p -1 reviewed silent c.1464 p.L488 0.99 "superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase" - no_errors CXorf21 80231 hgsc.bcm.edu 36 X 30487936 30487936 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 30487936 30487936 C T SNP CXorf21 NM_025159 human genbank 54_36p -1 predicted missense c.458 p.G153D 1 NULL PatternScan_ADH_SHORT - no_errors CXorf22 170063 hgsc.bcm.edu 36 X 35895718 35895718 + Silent SNP C C T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 35895718 35895718 C T SNP CXorf22 NM_152632 human genbank 54_36p 1 validated silent c.1662 p.R554 0 NULL NULL - no_errors CYLC1 1538 hgsc.bcm.edu 36 X 83015076 83015076 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 83015076 83015076 C A SNP CYLC1 NM_021118 human genbank 54_36p 1 provisional nonsense c.704 p.S235* 0 NULL NULL - no_errors CYLC1 1538 hgsc.bcm.edu 36 X 83015354 83015354 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A T T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 83015354 83015354 A T SNP CYLC1 NM_021118 human genbank 54_36p 1 provisional nonsense c.982 p.K328* 0.37 NULL NULL - no_errors DGKK 139189 hgsc.bcm.edu 36 X 50184032 50184033 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 50184032 50184033 - A INS DGKK ENST00000376025 human ensembl 54_36p -1 known frame_shift_ins c.710_709 p.Y237fs 0.981:0.994 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors DMD 1756 hgsc.bcm.edu 36 X 31049933 31049933 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 31049933 31049933 C A SNP DMD NM_004021 human genbank 54_36p -1 reviewed missense c.3670 p.D1224Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DMD 1756 hgsc.bcm.edu 36 X 31407088 31407088 + Silent SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 31407088 31407088 C T SNP DMD NM_004006 human genbank 54_36p -1 reviewed silent c.8601 p.E2867 1 "superfamily_Spectrin repeat,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors DOCK11 139818 hgsc.bcm.edu 36 X 117615509 117615525 + Frame_Shift_Del DEL GCTACTTGAATCTGAAT GCTACTTGAATCTGAAT - novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 GCTACTTGAATCTGAAT GCTACTTGAATCTGAAT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 117615509 117615525 GCTACTTGAATCTGAAT - DEL DOCK11 NM_144658 human genbank 54_36p 1 validated frame_shift_del c.2351_2367 p.Y785fs 1.000:0.982:1.000:1.000:1.000:1.000:1.000:0.992:0.988:0.984:0.975:0.943:0.950:0.956:0.987:0.995:0.999 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ded_cyto" "(deletion:cds_exon[117615422,117615543])" no_errors DRP2 1821 hgsc.bcm.edu 36 X 100396880 100396880 + Silent SNP C C T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 100396880 100396880 C T SNP DRP2 NM_001939 human genbank 54_36p 1 validated silent c.2232 p.S744 0.99 NULL "HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1" - no_errors EBP 10682 hgsc.bcm.edu 36 X 48267264 48267264 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 48267264 48267264 C T SNP EBP NM_006579 human genbank 54_36p 1 reviewed missense c.161 p.A54V 0.95 HMMPfam_EBP HMMPfam_EBP - no_errors EDA 1896 hgsc.bcm.edu 36 X 68753061 68753061 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 68753061 68753061 C A SNP EDA NM_001399 human genbank 54_36p 1 reviewed missense c.184 p.L62I 1 NULL "HMMPfam_Collagen,superfamily_TNF-like,HMMPfam_TNF" - no_errors EFHC2 80258 hgsc.bcm.edu 36 X 44005473 44005473 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 44005473 44005473 C T SNP EFHC2 NM_025184 human genbank 54_36p -1 validated missense c.398 p.R133H 1 "HMMSmart_SM00676,HMMPfam_DUF1126" "HMMSmart_SM00676,HMMPfam_DUF1126,superfamily_EF-hand" - no_errors EIF2S3 1968 hgsc.bcm.edu 36 X 23996091 23996091 + Silent SNP A A T novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 23996091 23996091 A T SNP EIF2S3 NM_001415 human genbank 54_36p 1 validated silent c.957 p.V319 0.86 "superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_eIF2_C,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain" - no_errors ERCC6L 54821 hgsc.bcm.edu 36 X 71341605 71341605 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 71341605 71341605 T G SNP ERCC6L NM_017669 human genbank 54_36p -1 validated missense c.3737 p.Q1246P 1 NULL "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors ERCC6L 54821 hgsc.bcm.edu 36 X 71342127 71342127 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 71342127 71342127 C G SNP ERCC6L NM_017669 human genbank 54_36p -1 validated missense c.3215 p.G1072A 0 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_DEXDc,superfamily_SSF52540" - no_errors ERCC6L 54821 hgsc.bcm.edu 36 X 71343000 71343000 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 71343000 71343000 G A SNP ERCC6L NM_017669 human genbank 54_36p -1 validated missense c.2342 p.P781L 0 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_DEXDc,superfamily_SSF52540" - no_errors F8 2157 hgsc.bcm.edu 36 X 153838448 153838448 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 153838448 153838448 G T SNP F8 NM_000132 human genbank 54_36p -1 reviewed missense c.1730 p.S577Y 1 superfamily_Cupredoxins "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors FAM123B 139285 hgsc.bcm.edu 36 X 63329263 63329263 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 63329263 63329263 G A SNP FAM123B NM_152424 human genbank 54_36p -1 validated missense c.629 p.S210L 0.11 HMMPfam_WTX HMMPfam_WTX - no_errors FAM47B 170062 hgsc.bcm.edu 36 X 34871989 34871989 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 34871989 34871989 C A SNP FAM47B NM_152631 human genbank 54_36p 1 predicted missense c.1120 p.L374I 0.05 NULL NULL - no_errors FAM47B 170062 hgsc.bcm.edu 36 X 34872017 34872017 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 34872017 34872017 G A SNP FAM47B NM_152631 human genbank 54_36p 1 predicted nonsense c.1148 p.W383* 0 NULL NULL - no_errors FOXP3 50943 hgsc.bcm.edu 36 X 49000922 49000922 + Silent SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 49000922 49000922 C T SNP FOXP3 NM_014009 human genbank 54_36p -1 reviewed silent c.360 p.V120 0.99 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors G6PD 2539 hgsc.bcm.edu 36 X 153413423 153413423 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 153413423 153413423 G A SNP G6PD NM_000402 human genbank 54_36p -1 reviewed missense c.1624 p.P542S 1 NULL "superfamily_NAD(P)-bd,HMMPfam_G6PD_N,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347,HMMPfam_G6PD_C" - no_errors G6PD 2539 hgsc.bcm.edu 36 X 153413454 153413454 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 153413454 153413454 G C SNP G6PD NM_000402 human genbank 54_36p -1 reviewed missense c.1593 p.F531L 1 "HMMPfam_G6PD_C,superfamily_SSF55347" "HMMPfam_G6PD_N,HMMPfam_G6PD_C,superfamily_NAD(P)-bd,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347" - no_errors GABRE 2564 hgsc.bcm.edu 36 X 150880417 150880417 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 150880417 150880417 A G SNP GABRE NM_004961 human genbank 54_36p -1 reviewed missense c.640 p.S214P 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRQ 55879 hgsc.bcm.edu 36 X 151566256 151566256 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 151566256 151566256 C G SNP GABRQ NM_018558 human genbank 54_36p 1 reviewed missense c.498 p.H166Q 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GNL3L 54552 hgsc.bcm.edu 36 X 54601673 54601673 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 54601673 54601673 C G SNP GNL3L NM_019067 human genbank 54_36p 1 validated missense c.1526 p.P509R 0.16 NULL "superfamily_SSF52540,HMMPfam_MMR_HSR1" - no_errors GPR101 83550 hgsc.bcm.edu 36 X 135940734 135940734 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 135940734 135940734 A T SNP GPR101 NM_054021 human genbank 54_36p -1 provisional missense c.766 p.F256I 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR112 139378 hgsc.bcm.edu 36 X 135218642 135218642 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 135218642 135218642 A C SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.40 p.I14L 0.93 NULL "superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR174 84636 hgsc.bcm.edu 36 X 78313828 78313828 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 78313828 78313828 G A SNP GPR174 NM_032553 human genbank 54_36p 1 provisional missense c.668 p.G223E 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors GPR50 9248 hgsc.bcm.edu 36 X 150100216 150100227 + In_Frame_Del DEL CACCACTGGCCA CACCACTGGCCA - novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 CACCACTGGCCA CACCACTGGCCA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 150100216 150100227 CACCACTGGCCA - DEL GPR50 NM_004224 human genbank 54_36p 1 validated in_frame_del c.1503_1514 p.TTGH502in_frame_del 0.003:0.001:0.002:0.022:0.100:0.726:0.738:0.758:0.720:0.715:0.346:0.355 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_TRYPSIN_HIS" "(deletion:cds_exon[150098901,150100567])" no_errors GPRASP1 9737 hgsc.bcm.edu 36 X 101798078 101798079 + Frame_Shift_Del DEL GG GG - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 GG GG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 101798078 101798079 GG - DEL GPRASP1 NM_001099410 human genbank 54_36p 1 validated frame_shift_del c.2581_2582 p.G861fs 0.001:0.003 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" "(deletion:cds_exon[101795498,101799685])" no_errors GRIA3 2892 hgsc.bcm.edu 36 X 122389591 122389591 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 122389591 122389591 G A SNP GRIA3 NM_000828 human genbank 54_36p 1 reviewed missense c.1996 p.E666K 1 "HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRIA3 2892 hgsc.bcm.edu 36 X 122426617 122426617 + Missense_Mutation SNP T T A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 122426617 122426617 T A SNP GRIA3 NM_000828 human genbank 54_36p 1 reviewed missense c.2297 p.V766E 1 "HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II" "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors GRIPAP1 56850 hgsc.bcm.edu 36 X 48716510 48716510 + Splice_Site SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 48716510 48716510 C T SNP GRIPAP1 NM_020137 human genbank 54_36p -1 validated splice_site c.2433+1 e25+1 1 - - - no_errors GRIPAP1 56850 hgsc.bcm.edu 36 X 48738643 48738643 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 48738643 48738643 C T SNP GRIPAP1 NM_020137 human genbank 54_36p -1 validated missense c.269 p.R90H 1 NULL superfamily_Prefoldin - no_errors GRPR 2925 hgsc.bcm.edu 36 X 16078381 16078381 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 16078381 16078381 A G SNP GRPR NM_005314 human genbank 54_36p 1 reviewed missense c.446 p.Q149R 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GSPT2 23708 hgsc.bcm.edu 36 X 51505196 51505196 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 51505196 51505196 A T SNP GSPT2 NM_018094 human genbank 54_36p 1 validated missense c.1734 p.Q578H 1 "HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C" "HMMPfam_PAM2,superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C" - no_errors HDAC6 10013 hgsc.bcm.edu 36 X 48563511 48563511 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 48563511 48563511 C A SNP HDAC6 NM_006044 human genbank 54_36p 1 reviewed missense c.2242 p.P748T 1 "superfamily_SSF52768,HMMPfam_Hist_deacetyl" "superfamily_SSF52768,HMMPfam_Hist_deacetyl,HMMSmart_ZnF_UBP,HMMPfam_zf-UBP" - no_errors HTATSF1 27336 hgsc.bcm.edu 36 X 135407528 135407528 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 135407528 135407528 G C SNP HTATSF1 NM_014500 human genbank 54_36p 1 provisional missense c.19 p.D7H 0 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors HTATSF1 27336 hgsc.bcm.edu 36 X 135420003 135420003 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 135420003 135420003 C T SNP HTATSF1 NM_014500 human genbank 54_36p 1 provisional nonsense c.1021 p.Q341* 1 "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors HUWE1 10075 hgsc.bcm.edu 36 X 53594646 53594646 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 53594646 53594646 T C SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.9326 p.H3109R 1 NULL "HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HUWE1 10075 hgsc.bcm.edu 36 X 53618861 53618861 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 53618861 53618861 A G SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.6076 p.S2026P 1 superfamily_ARM repeat "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors HUWE1 10075 hgsc.bcm.edu 36 X 53672270 53672270 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 53672270 53672270 G T SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.1141 p.Q381K 1 superfamily_ARM repeat "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors IGSF1 3547 hgsc.bcm.edu 36 X 130240331 130240331 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 130240331 130240331 G T SNP IGSF1 NM_001555 human genbank 54_36p -1 validated missense c.1826 p.T609N 1 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408" - no_errors IL1RAPL1 11141 hgsc.bcm.edu 36 X 29845546 29845546 + Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 29845546 29845546 G T SNP IL1RAPL1 NM_014271 human genbank 54_36p 1 reviewed nonsense c.823 p.G275* 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors IL1RAPL1 11141 hgsc.bcm.edu 36 X 29882678 29882678 + Silent SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 29882678 29882678 G A SNP IL1RAPL1 NM_014271 human genbank 54_36p 1 reviewed silent c.1320 p.K440 1 "HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain" "HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors IQSEC2 23096 hgsc.bcm.edu 36 X 53287693 53287693 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 53287693 53287693 C A SNP IQSEC2 NM_015075 human genbank 54_36p -1 validated missense c.2398 p.V800L 1 "superfamily_SSF50729,HMMSmart_PH" "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMSmart_PH" - no_errors IRS4 8471 hgsc.bcm.edu 36 X 107863092 107863092 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 107863092 107863092 C G SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.3139 p.V1047L 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors ITM2A 9452 hgsc.bcm.edu 36 X 78503627 78503627 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 78503627 78503627 G - DEL ITM2A NM_004867 human genbank 54_36p -1 validated frame_shift_del c.558 p.R187fs 0.99 HMMPfam_BRICHOS HMMPfam_BRICHOS "(deletion:cds_exon[78503482,78503632])" no_errors KAL1 3730 hgsc.bcm.edu 36 X 8515963 8515963 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 8515963 8515963 G T SNP KAL1 NM_000216 human genbank 54_36p -1 reviewed missense c.598 p.L200M 1 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors KAL1 3730 hgsc.bcm.edu 36 X 8551675 8551675 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T C C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 8551675 8551675 T C SNP KAL1 NM_000216 human genbank 54_36p -1 reviewed missense c.292 p.K98E 0.86 NULL "HMMPfam_fn3,HMMSmart_FN3,HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP,superfamily_FN_III-like,PatternScan_4_DISULFIDE_CORE" - no_errors KCND1 3750 hgsc.bcm.edu 36 X 48704813 48704813 + Silent SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 48704813 48704813 G C SNP KCND1 NM_004979 human genbank 54_36p -1 reviewed silent c.1917 p.P639 0.93 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KDM5C 8242 hgsc.bcm.edu 36 X 53263171 53263171 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 53263171 53263171 C T SNP JARID1C NM_004187 human genbank 54_36p -1 reviewed missense c.536 p.R179H 1 "superfamily_ARID-like,HMMPfam_ARID" "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1" - no_errors KDM5C 8242 hgsc.bcm.edu 36 X 53270730 53270730 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 53270730 53270730 C G SNP JARID1C NM_004187 human genbank 54_36p -1 reviewed missense c.67 p.E23Q 1 "HMMPfam_JmjN,HMMSmart_SM00545" "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00249,HMMSmart_SM00558,HMMPfam_JmjN,HMMSmart_SM00545,HMMPfam_zf-C5HC2,superfamily_FYVE/PHD zinc finger,HMMPfam_JmjC,HMMPfam_PLU-1,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors KIAA2022 340533 hgsc.bcm.edu 36 X 73876034 73876034 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T - T T Unknown Valid Somatic Phase_IV Capture SOLID SOLID X 73876034 73876034 T - DEL KIAA2022 NM_001008537 human genbank 54_36p -1 validated frame_shift_del c.4482 p.A1495fs 1 NULL NULL "(deletion:cds_exon[73875965,73876058])" no_errors KIAA2022 340533 hgsc.bcm.edu 36 X 73879897 73879897 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 73879897 73879897 G T SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated missense c.1220 p.P407H 0.13 NULL NULL - no_errors KIF4A 24137 hgsc.bcm.edu 36 X 69427358 69427358 + Silent SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 69427358 69427358 A T SNP KIF4A NM_012310 human genbank 54_36p 1 validated silent c.213 p.P71 0.99 "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin" "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors L1CAM 3897 hgsc.bcm.edu 36 X 152783482 152783482 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 152783482 152783482 T G SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.3034 p.M1012L 1 NULL "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors L1CAM 3897 hgsc.bcm.edu 36 X 152783770 152783770 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 152783770 152783770 C T SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.2839 p.V947M 0.26 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors L1CAM 3897 hgsc.bcm.edu 36 X 152783968 152783968 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 152783968 152783968 G T SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.2729 p.T910N 0.75 superfamily_Fibronectin type III "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors L1CAM 3897 hgsc.bcm.edu 36 X 152784145 152784145 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 152784145 152784145 G A SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.2552 p.T851M 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors MAGEA4 4103 hgsc.bcm.edu 36 X 150843513 150843513 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 150843513 150843513 G T SNP MAGEA4 NM_001011548 human genbank 54_36p 1 reviewed missense c.721 p.G241W 0.23 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAGEB1 4112 hgsc.bcm.edu 36 X 30178651 30178651 + Silent SNP C C G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 30178651 30178651 C G SNP MAGEB1 NM_002363 human genbank 54_36p 1 reviewed silent c.120 p.S40 0 NULL HMMPfam_MAGE - no_errors MAGEB17 645864 hgsc.bcm.edu 36 X 16099315 16099315 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 16099315 16099315 G A SNP LOC645864 XM_001130425 human genbank 54_36p 1 model missense c.1252 p.V418I 0 NULL HMMPfam_MAGE - no_errors MAGEB6 158809 hgsc.bcm.edu 36 X 26122569 26122569 + Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 26122569 26122569 T A SNP MAGEB6 NM_173523 human genbank 54_36p 1 reviewed missense c.685 p.Y229N 0.01 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAGEC3 139081 hgsc.bcm.edu 36 X 140812334 140812334 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 140812334 140812334 A G SNP MAGEC3 NM_138702 human genbank 54_36p 1 reviewed missense c.1124 p.E375G 0 NULL HMMPfam_MAGE - no_errors MAGED2 10916 hgsc.bcm.edu 36 X 54857825 54857825 + Silent SNP G G C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 54857825 54857825 G C SNP MAGED2 NM_014599 human genbank 54_36p 1 reviewed silent c.1278 p.L426 1 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAOA 4128 hgsc.bcm.edu 36 X 43488000 43488005 + In_Frame_Del DEL CGTGGG CGTGGG - novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 CGTGGG CGTGGG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 43488000 43488005 CGTGGG - DEL MAOA NM_000240 human genbank 54_36p 1 reviewed in_frame_del c.1278_1283 p.VG427in_frame_del 0.051:0.075:0.077:0.011:0.991:0.995 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" "(deletion:cds_exon[43487985,43488096])" no_errors MAP3K15 389840 hgsc.bcm.edu 36 X 19290851 19290851 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 19290851 19290851 T C SNP MAP3K15 NM_001001671 human genbank 54_36p -1 validated missense c.2030 p.Q677R 1 NULL "HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology" - no_errors TAB3 257397 hgsc.bcm.edu 36 X 30783148 30783148 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 30783148 30783148 C T SNP MAP3K7IP3 NM_152787 human genbank 54_36p -1 reviewed missense c.555 p.M185I 1 NULL "HMMPfam_CUE,HMMSmart_SM00546,superfamily_NZF domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors MAP7D2 256714 hgsc.bcm.edu 36 X 19953033 19953033 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 19953033 19953033 C T SNP MAP7D2 NM_152780 human genbank 54_36p -1 provisional missense c.1246 p.E416K 1 HMMPfam_MAP7 HMMPfam_MAP7 - no_errors MAP7D3 79649 hgsc.bcm.edu 36 X 135154483 135154483 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 135154483 135154483 T A SNP MAP7D3 NM_024597 human genbank 54_36p -1 validated nonsense c.391 p.R131* 0.99 NULL HMMPfam_MAP7 - no_errors MID1 4281 hgsc.bcm.edu 36 X 10423677 10423677 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 10423677 10423677 C G SNP MID1 NM_000381 human genbank 54_36p -1 reviewed missense c.811 p.E271Q 1 HMMSmart_SM00502 ############################################################################################################################################################################################################################################################### - no_errors MOSPD2 158747 hgsc.bcm.edu 36 X 14839425 14839425 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 14839425 14839425 C A SNP MOSPD2 NM_152581 human genbank 54_36p 1 provisional missense c.848 p.S283Y 0.97 NULL "superfamily_CRAL/TRIO N-terminal domain,superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_CRAL_TRIO,HMMPfam_Motile_Sperm,superfamily_PapD-like" - no_errors MSN 4478 hgsc.bcm.edu 36 X 64866095 64866095 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 64866095 64866095 A C SNP MSN NM_002444 human genbank 54_36p 1 reviewed missense c.263 p.D88A 1 "HMMSmart_B41,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M" "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin" - no_errors MTCP1NB 100272147 hgsc.bcm.edu 36 X 153947128 153947128 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 153947128 153947128 T C SNP MTCP1NB ENST00000330425 human ensembl 54_36p -1 known missense c.236 p.D79G 1 "HMMPfam_TCL1_MTCP1,superfamily_Oncogene products" "HMMPfam_TCL1_MTCP1,superfamily_Oncogene products" - no_errors MTMR8 55613 hgsc.bcm.edu 36 X 63491409 63491409 + Silent SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 63491409 63491409 G T SNP MTMR8 NM_017677 human genbank 54_36p -1 provisional silent c.441 p.T147 0.09 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors NAP1L3 4675 hgsc.bcm.edu 36 X 92814217 92814217 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 92814217 92814217 A T SNP NAP1L3 NM_004538 human genbank 54_36p -1 reviewed missense c.743 p.V248E 0.62 HMMPfam_NAP HMMPfam_NAP - no_errors NHS 4810 hgsc.bcm.edu 36 X 17653878 17653878 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 17653878 17653878 T G SNP NHS NM_198270 human genbank 54_36p 1 reviewed missense c.1668 p.S556R 0.98 NULL NULL - no_errors NHS 4810 hgsc.bcm.edu 36 X 17660270 17660270 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 17660270 17660270 C T SNP NHS NM_198270 human genbank 54_36p 1 reviewed missense c.4658 p.S1553F 0.01 NULL NULL - no_errors NKAP 79576 hgsc.bcm.edu 36 X 118961281 118961281 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 118961281 118961281 G A SNP NKAP NM_024528 human genbank 54_36p -1 validated missense c.316 p.R106C 0.95 NULL HMMPfam_DUF926 - no_errors NLGN4X 57502 hgsc.bcm.edu 36 X 5831716 5831716 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 5831716 5831716 T C SNP NLGN4X NM_020742 human genbank 54_36p -1 reviewed missense c.1003 p.T335A 1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2" - no_errors NXF3 56000 hgsc.bcm.edu 36 X 102225226 102225226 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 102225226 102225226 C G SNP NXF3 NM_022052 human genbank 54_36p -1 reviewed missense c.402 p.Q134H 0.97 "superfamily_RNA-binding domain RBD,HMMPfam_Tap-RNA_bind" "superfamily_RNA-binding domain RBD,HMMPfam_Tap-RNA_bind,superfamily_NTF2-like,HMMPfam_NTF2" - no_errors NXT2 55916 hgsc.bcm.edu 36 X 108666891 108666891 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 108666891 108666891 G T SNP NXT2 NM_018698 human genbank 54_36p 1 provisional missense c.165 p.Q55H 0.02 NULL "superfamily_SSF54427,HMMPfam_NTF2" - no_errors ODZ1 10178 hgsc.bcm.edu 36 X 123345314 123345314 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 123345314 123345314 C T SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.7127 p.R2376K 1 NULL "HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat" - no_errors ODZ1 10178 hgsc.bcm.edu 36 X 123615300 123615300 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 123615300 123615300 G A SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.1183 p.R395W 1 NULL "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors OGT 8473 hgsc.bcm.edu 36 X 70674534 70674534 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 70674534 70674534 C T SNP OGT NM_181672 human genbank 54_36p 1 reviewed missense c.349 p.R117C 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1" - no_errors OGT 8473 hgsc.bcm.edu 36 X 70693324 70693324 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 70693324 70693324 G T SNP OGT NM_181672 human genbank 54_36p 1 reviewed nonsense c.1135 p.E379* 1 "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like" "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like" - no_errors OPN1LW 5956 hgsc.bcm.edu 36 X 153071654 153071654 + Missense_Mutation SNP C C A rs713 Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 153071654 153071654 C A SNP OPN1LW NM_020061 human genbank 54_36p 1 reviewed missense c.457 p.L153M 0.88 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN" - no_errors P2RY10 27334 hgsc.bcm.edu 36 X 78102726 78102726 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 78102726 78102726 C G SNP P2RY10 NM_014499 human genbank 54_36p 1 reviewed missense c.53 p.T18S 0.22 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors PASD1 139135 hgsc.bcm.edu 36 X 150593163 150593163 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 150593163 150593163 C T SNP PASD1 NM_173493 human genbank 54_36p 1 validated missense c.2024 p.T675I 0 NULL "HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain)" - no_errors PDK3 5165 hgsc.bcm.edu 36 X 24433318 24433318 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 24433318 24433318 G A SNP PDK3 NM_005391 human genbank 54_36p 1 validated missense c.577 p.V193M 1 superfamily_ATP_bd_ATPase "superfamily_SSF69012,HMMPfam_BCDHK_Adom3,superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c" - no_errors PHKA2 5256 hgsc.bcm.edu 36 X 18825295 18825296 + Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 18825295 18825296 CC - DEL PHKA2 NM_000292 human genbank 54_36p -1 validated frame_shift_del c.3189_3188 p.R1063fs 0.997:1.000 HMMPfam_PHK_AB "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" "(deletion:cds_exon[18825202,18825372])" no_errors PNCK 139728 hgsc.bcm.edu 36 X 152589209 152589209 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 152589209 152589209 A T SNP PNCK NM_001039582 human genbank 54_36p -1 validated missense c.998 p.I333N 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PNMA3 29944 hgsc.bcm.edu 36 X 151977436 151977436 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 151977436 151977436 C A SNP PNMA3 NM_013364 human genbank 54_36p 1 reviewed missense c.1368 p.S456R 0.44 NULL NULL - no_errors PORCN 64840 hgsc.bcm.edu 36 X 48259087 48259087 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 48259087 48259087 G A SNP PORCN NM_203475 human genbank 54_36p 1 reviewed missense c.985 p.A329T 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors PRRG3 79057 hgsc.bcm.edu 36 X 150619985 150619985 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 150619985 150619985 A T SNP PRRG3 NM_024082 human genbank 54_36p 1 provisional missense c.520 p.T174S 0.93 NULL "HMMSmart_GLA,superfamily_VitK_dep_GLA,HMMPfam_Gla,PatternScan_GLA_1" - no_errors PTCHD1 139411 hgsc.bcm.edu 36 X 23307779 23307779 + Silent SNP C C A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 23307779 23307779 C A SNP PTCHD1 NM_173495 human genbank 54_36p 1 validated silent c.502 p.R168 1 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors RAB41 347517 hgsc.bcm.edu 36 X 69420885 69420885 + Silent SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 69420885 69420885 A G SNP RAB41 NM_001032726 human genbank 54_36p 1 provisional silent c.594 p.S198 0 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors RBM10 8241 hgsc.bcm.edu 36 X 46913777 46913777 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 46913777 46913777 G A SNP RBM10 NM_005676 human genbank 54_36p 1 reviewed missense c.137 p.R46H 0.88 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,HMMSmart_SM00443,HMMPfam_G-patch" - no_errors RENBP 5973 hgsc.bcm.edu 36 X 152858822 152858822 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 152858822 152858822 A G SNP RENBP NM_002910 human genbank 54_36p -1 reviewed missense c.974 p.M325T 1 "superfamily_Glyco_trans_6hp,HMMPfam_GlcNAc_2-epim" "superfamily_Glyco_trans_6hp,HMMPfam_GlcNAc_2-epim" - no_errors RENBP 5973 hgsc.bcm.edu 36 X 152860231 152860231 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 152860231 152860231 G T SNP RENBP NM_002910 human genbank 54_36p -1 reviewed missense c.809 p.A270D 0.04 superfamily_Glyco_trans_6hp "superfamily_Glyco_trans_6hp,HMMPfam_GlcNAc_2-epim" - no_errors RNF128 79589 hgsc.bcm.edu 36 X 105921083 105921083 + Silent SNP A A G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 105921083 105921083 A G SNP RNF128 NM_194463 human genbank 54_36p 1 reviewed silent c.1116 p.T372 1 NULL "superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors SASH3 54440 hgsc.bcm.edu 36 X 128749644 128749644 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 128749644 128749644 C A SNP SASH3 NM_018990 human genbank 54_36p 1 provisional missense c.70 p.R24S 1 NULL "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" - no_errors SHROOM2 357 hgsc.bcm.edu 36 X 9801753 9801753 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 9801753 9801753 G A SNP SHROOM2 NM_001649 human genbank 54_36p 1 reviewed missense c.227 p.G76D 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2" - no_errors SHROOM4 57477 hgsc.bcm.edu 36 X 50395248 50395248 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 50395248 50395248 C T SNP SHROOM4 NM_020717 human genbank 54_36p -1 reviewed missense c.565 p.A189T 1 NULL "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2" - no_errors SLC7A3 84889 hgsc.bcm.edu 36 X 70062449 70062449 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 70062449 70062449 C T SNP SLC7A3 NM_001048164 human genbank 54_36p -1 validated missense c.1799 p.R600H 0 NULL HMMPfam_AA_permease - no_errors SMARCA1 6594 hgsc.bcm.edu 36 X 128458460 128458460 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 128458460 128458460 C T SNP SMARCA1 NM_003069 human genbank 54_36p -1 reviewed missense c.1574 p.R525H 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" ############################################################################################################################################################################################################################################################### - no_errors SMARCA1 6594 hgsc.bcm.edu 36 X 128477390 128477390 + Silent SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 128477390 128477390 G T SNP SMARCA1 NM_003069 human genbank 54_36p -1 reviewed silent c.585 p.I195 1 "HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors SMC1A 8243 hgsc.bcm.edu 36 X 53453085 53453085 + Silent SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 53453085 53453085 G C SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed silent c.1329 p.T443 0.96 "HMMPfam_SMC_N,superfamily_SSF52540" "HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge" - no_errors SNX12 29934 hgsc.bcm.edu 36 X 70199435 70199435 + Silent SNP A A G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 70199435 70199435 A G SNP SNX12 NM_013346 human genbank 54_36p -1 reviewed silent c.255 p.D85 1 "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" - no_errors SPANXN3 139067 hgsc.bcm.edu 36 X 142424465 142424465 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 142424465 142424465 A T SNP SPANXN3 NM_001009609 human genbank 54_36p -1 validated missense c.271 p.L91I 0.1 HMMPfam_SPAN-X HMMPfam_SPAN-X - no_errors SPIN3 169981 hgsc.bcm.edu 36 X 57037387 57037387 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 57037387 57037387 A - DEL SPIN3 NM_001010862 human genbank 54_36p -1 validated frame_shift_del c.719 p.F240fs 1 HMMPfam_Spin-Ssty HMMPfam_Spin-Ssty "(deletion:cds_exon[57037329,57038105])" no_errors SRPX2 27286 hgsc.bcm.edu 36 X 99812504 99812504 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 99812504 99812504 T A SNP SRPX2 NM_014467 human genbank 54_36p 1 validated missense c.1262 p.I421N 1 NULL "HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_HYR,superfamily_Complement_control_module" - no_errors STAG2 10735 hgsc.bcm.edu 36 X 123048091 123048091 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 123048091 123048091 G T SNP STAG2 NM_001042749 human genbank 54_36p 1 validated nonsense c.3067 p.E1023* 1 superfamily_ARM-type_fold "HMMPfam_STAG,superfamily_ARM-type_fold" - no_errors STARD8 9754 hgsc.bcm.edu 36 X 67854613 67854613 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 67854613 67854613 G A SNP STARD8 NM_014725 human genbank 54_36p 1 validated missense c.892 p.D298N 0.27 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors TAF1 6872 hgsc.bcm.edu 36 X 70596215 70596215 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 70596215 70596215 T G SNP TAF1 NM_004606 human genbank 54_36p 1 reviewed missense c.5213 p.L1738R 1 NULL "HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_TBP-binding,superfamily_TAF_II_230,PatternScan_BROMODOMAIN_1" - no_errors TBL1X 6907 hgsc.bcm.edu 36 X 9633064 9633064 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 9633064 9633064 C A SNP TBL1X NM_005647 human genbank 54_36p 1 reviewed missense c.1146 p.N382K 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00667,HMMPfam_LisH,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors TEX11 56159 hgsc.bcm.edu 36 X 69743567 69743567 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 69743567 69743567 C T SNP TEX11 NM_001003811 human genbank 54_36p -1 reviewed silent c.1962 p.V654 0.01 NULL "superfamily_TPR-like,HMMPfam_SPO22,HMMSmart_SM00028" - no_errors TEX11 56159 hgsc.bcm.edu 36 X 69861895 69861895 + Silent SNP A A G novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 69861895 69861895 A G SNP TEX11 NM_001003811 human genbank 54_36p -1 reviewed silent c.912 p.L304 1 "HMMPfam_SPO22,superfamily_TPR-like" "HMMPfam_SPO22,HMMSmart_SM00028,superfamily_TPR-like" - no_errors TEX13B 56156 hgsc.bcm.edu 36 X 107111840 107111840 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 107111840 107111840 C A SNP TEX13B NM_031273 human genbank 54_36p -1 reviewed missense c.174 p.E58D 0 NULL NULL - no_errors TLR7 51284 hgsc.bcm.edu 36 X 12814267 12814267 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 12814267 12814267 T C SNP TLR7 NM_016562 human genbank 54_36p 1 reviewed missense c.719 p.I240T 0.16 "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors TLR8 51311 hgsc.bcm.edu 36 X 12848591 12848591 + Missense_Mutation SNP T T A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 12848591 12848591 T A SNP TLR8 NM_138636 human genbank 54_36p 1 reviewed missense c.1511 p.L504H 0.11 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_TIR,HMMPfam_TIR" - no_errors TLR8 51311 hgsc.bcm.edu 36 X 12848977 12848977 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 12848977 12848977 T A SNP TLR8 NM_138636 human genbank 54_36p 1 reviewed missense c.1897 p.S633T 0 superfamily_SSF52058 "HMMPfam_TIR,superfamily_TIR,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047,superfamily_SSF52058" - no_errors TMEM185A 84548 hgsc.bcm.edu 36 X 148498255 148498255 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 148498255 148498255 A T SNP TMEM185A NM_032508 human genbank 54_36p -1 provisional missense c.278 p.L93H 1 HMMPfam_Tmemb_185A HMMPfam_Tmemb_185A - no_errors TRMT2B 79979 hgsc.bcm.edu 36 X 100163624 100163624 + Silent SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 100163624 100163624 G A SNP TRMT2B NM_024917 human genbank 54_36p -1 provisional silent c.840 p.Y280 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_MTS" - no_errors UBA1 7317 hgsc.bcm.edu 36 X 46945276 46945276 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 46945276 46945276 C - DEL UBA1 NM_003334 human genbank 54_36p 1 reviewed frame_shift_del c.520 p.R174fs 0.77 "superfamily_MoeB,HMMPfam_ThiF" "superfamily_MoeB,HMMPfam_ThiF,PatternScan_UBIQUITIN_ACTIVAT_1,HMMPfam_UBA_e1_thiolCys,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_UBA_e1_C" "(deletion:cds_exon[46945237,46945343])" no_errors USP11 8237 hgsc.bcm.edu 36 X 46983436 46983436 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID X 46983436 46983436 A G SNP USP11 NM_004651 human genbank 54_36p 1 reviewed missense c.329 p.Y110C 1 HMMSmart_DUSP "HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors WDR13 64743 hgsc.bcm.edu 36 X 48342266 48342266 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 48342266 48342266 C T SNP WDR13 NM_017883 human genbank 54_36p 1 reviewed missense c.259 p.R87C 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors XIAP 331 hgsc.bcm.edu 36 X 122868603 122868603 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 122868603 122868603 T A SNP XIAP NM_001167 human genbank 54_36p 1 reviewed missense c.1385 p.F462Y 1 "superfamily_SSF57924,HMMSmart_RING" "PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_RING" - no_errors ZDHHC9 51114 hgsc.bcm.edu 36 X 128785369 128785369 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 128785369 128785369 C T SNP ZDHHC9 NM_001008222 human genbank 54_36p -1 validated missense c.454 p.A152T 1 HMMPfam_zf-DHHC HMMPfam_zf-DHHC - no_errors ZNF185 7739 hgsc.bcm.edu 36 X 151839940 151839940 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 151839940 151839940 C T SNP ZNF185 NM_007150 human genbank 54_36p 1 validated silent c.645 p.I215 0.56 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors ZNF41 7592 hgsc.bcm.edu 36 X 47192941 47192941 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 47192941 47192941 C A SNP ZNF41 NM_007130 human genbank 54_36p -1 reviewed missense c.1172 p.G391V 0.3 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF41 7592 hgsc.bcm.edu 36 X 47193167 47193167 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID X 47193167 47193167 C T SNP ZNF41 NM_007130 human genbank 54_36p -1 reviewed missense c.946 p.V316I 0 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF449 203523 hgsc.bcm.edu 36 X 134322057 134322057 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 134322057 134322057 A T SNP ZNF449 NM_152695 human genbank 54_36p 1 validated missense c.947 p.K316M 0.56 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF630 57232 hgsc.bcm.edu 36 X 47803829 47803829 + Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 47803829 47803829 C A SNP ZNF630 NM_001037735 human genbank 54_36p -1 validated nonsense c.574 p.E192* 1 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ACOT11 26027 hgsc.bcm.edu 36 1 54832259 54832259 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 54832259 54832259 A T SNP ACOT11 NM_015547 human genbank 54_36p 1 reviewed nonsense c.430 p.K144* 1 superfamily_Thioesterase/thiol ester dehydrase-isomerase "superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors ACTN2 88 hgsc.bcm.edu 36 1 234967080 234967080 + Silent SNP T T G novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 234967080 234967080 T G SNP ACTN2 NM_001103 human genbank 54_36p 1 reviewed silent c.819 p.L273 1 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors ACTN2 88 hgsc.bcm.edu 36 1 234985044 234985044 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 234985044 234985044 G A SNP ACTN2 NM_001103 human genbank 54_36p 1 reviewed missense c.2077 p.D693N 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors ADAM30 11085 hgsc.bcm.edu 36 1 120239099 120239099 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 120239099 120239099 T C SNP ADAM30 NM_021794 human genbank 54_36p -1 reviewed missense c.1384 p.N462D 0.21 "HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin)" ############################################################################################################################################################################################################################################################### - no_errors ADAMTS4 9507 hgsc.bcm.edu 36 1 159427713 159427713 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 159427713 159427713 C A SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.2353 p.V785F 1 HMMPfam_ADAM_spacer1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS4 9507 hgsc.bcm.edu 36 1 159427713 159427713 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 159427713 159427713 C G SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.2353 p.V785L 1 HMMPfam_ADAM_spacer1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,HMMPfam_ADAM_spacer1,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS4 9507 hgsc.bcm.edu 36 1 159430448 159430448 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 159430448 159430448 C G SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.1449 p.Q483H 1 HMMSmart_SM00608 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,HMMPfam_ADAM_spacer1,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADORA3 140 hgsc.bcm.edu 36 1 111834883 111834883 + Silent SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 111834883 111834883 C T SNP ADORA3 NM_020683 human genbank 54_36p -1 reviewed silent c.375 p.G125 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF48726" - no_errors AHCYL1 10768 hgsc.bcm.edu 36 1 110362131 110362131 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 110362131 110362131 C T SNP AHCYL1 NM_006621 human genbank 54_36p 1 validated missense c.1093 p.R365W 1 "superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AdoHcyase,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_AdoHcyase_NAD" "superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AdoHcyase,PatternScan_ADOHCYASE_1,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_AdoHcyase_NAD,PatternScan_ADOHCYASE_2" - no_errors AMPD2 271 hgsc.bcm.edu 36 1 109970328 109970328 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 109970328 109970328 G A SNP AMPD2 NM_004037 human genbank 54_36p 1 validated missense c.539 p.R180Q 1 NULL "superfamily_Metallo-dependent hydrolases,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE" - no_errors AMPD2 271 hgsc.bcm.edu 36 1 109970497 109970497 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 109970497 109970497 C A SNP AMPD2 NM_004037 human genbank 54_36p 1 validated missense c.618 p.D206E 0.98 NULL "HMMPfam_A_deaminase,PatternScan_A_DEAMINASE,superfamily_Metallo-dependent hydrolases" - no_errors ARID1A 8289 hgsc.bcm.edu 36 1 26962198 26962198 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 26962198 26962198 G T SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed missense c.2567 p.G856V 1 NULL "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors ARL8A 127829 hgsc.bcm.edu 36 1 200371278 200371278 + Splice_Site SNP C C A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 200371278 200371278 C A SNP ARL8A NM_138795 human genbank 54_36p -1 validated splice_site c.373-1 e5-1 1 - - - no_errors ASAP3 55616 hgsc.bcm.edu 36 1 23632595 23632595 + Silent SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 23632595 23632595 C A SNP ASAP3 NM_017707 human genbank 54_36p -1 reviewed silent c.2037 p.A679 0.33 superfamily_Ankyrin repeat "PatternScan_AIPM_HOMOCIT_SYNTH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors ASTN1 460 hgsc.bcm.edu 36 1 175104627 175104627 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 175104627 175104627 C T SNP ASTN1 NM_004319 human genbank 54_36p -1 validated missense c.3623 p.R1208Q 1 NULL "HMMSmart_EGF,HMMSmart_MACPF,superfamily_FN_III-like,HMMSmart_FN3" - no_errors ATAD3B 83858 hgsc.bcm.edu 36 1 1414489 1414489 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 1414489 1414489 C A SNP ATAD3B NM_031921 human genbank 54_36p 1 provisional missense c.1309 p.L437M 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" - no_errors ATF6 22926 hgsc.bcm.edu 36 1 160088224 160088224 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 160088224 160088224 C G SNP ATF6 NM_007348 human genbank 54_36p 1 validated missense c.1408 p.L470V 0.34 NULL "HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC" - no_errors ATP13A2 23400 hgsc.bcm.edu 36 1 17191597 17191597 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 17191597 17191597 G C SNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed missense c.1816 p.P606A 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N" ############################################################################################################################################################################################################################################################### - no_errors ATP1A2 477 hgsc.bcm.edu 36 1 158371025 158371025 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 158371025 158371025 T C SNP ATP1A2 NM_000702 human genbank 54_36p 1 reviewed missense c.1955 p.V652A 1 "superfamily_SSF81665,superfamily_SSF56784,HMMPfam_Hydrolase" "HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C" - no_errors ATP1A2 477 hgsc.bcm.edu 36 1 158376384 158376384 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 158376384 158376384 G C SNP ATP1A2 NM_000702 human genbank 54_36p 1 reviewed missense c.3020 p.R1007P 0.99 superfamily_SSF81665 "HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665" - no_errors BAI2 576 hgsc.bcm.edu 36 1 31974901 31974901 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 31974901 31974901 G T SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.2990 p.T997N 1 HMMPfam_7tm_2 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors BPNT1 10380 hgsc.bcm.edu 36 1 218319790 218319790 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 218319790 218319790 A C SNP BPNT1 NM_006085 human genbank 54_36p -1 validated missense c.22 p.L8V 1 "HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase" "HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase,PatternScan_IMP_1,PatternScan_IMP_2" - no_errors C1orf101 257044 hgsc.bcm.edu 36 1 242813826 242813826 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 242813826 242813826 C A SNP C1orf101 NM_173807 human genbank 54_36p 1 validated missense c.2047 p.P683T 0.3 NULL NULL - no_errors OSCP1 127700 hgsc.bcm.edu 36 1 36660980 36660980 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 36660980 36660980 C T SNP C1orf102 NM_145047 human genbank 54_36p -1 validated missense c.755 p.R252Q 1 NULL HMMPfam_Oscp1 - no_errors C1orf173 127254 hgsc.bcm.edu 36 1 74810975 74810975 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 74810975 74810975 C A SNP C1orf173 NM_001002912 human genbank 54_36p -1 predicted missense c.3007 p.A1003S 0.04 NULL NULL - no_errors C1orf183 55924 hgsc.bcm.edu 36 1 112071340 112071340 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 112071340 112071340 C A SNP C1orf183 NM_019099 human genbank 54_36p -1 validated missense c.667 p.D223Y 1 NULL NULL - no_errors C1orf27 54953 hgsc.bcm.edu 36 1 184621787 184621787 + Silent SNP T T C novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 184621787 184621787 T C SNP C1orf27 ENST00000287859 human ensembl 54_36p 1 known silent c.279 p.F93 1 NULL NULL - no_errors C1orf38 9473 hgsc.bcm.edu 36 1 28078808 28078808 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 28078808 28078808 C T SNP C1orf38 NM_001105556 human genbank 54_36p 1 validated missense c.302 p.T101I 0 NULL NULL - no_errors C1orf43 25912 hgsc.bcm.edu 36 1 152451668 152451668 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 152451668 152451668 G A SNP C1orf43 NM_001098616 human genbank 54_36p -1 validated missense c.397 p.R133C 1 HMMPfam_NICE-3 HMMPfam_NICE-3 - no_errors C1orf95 375057 hgsc.bcm.edu 36 1 224803372 224803372 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 224803372 224803372 C G SNP C1orf95 NM_001003665 human genbank 54_36p 1 predicted nonsense c.144 p.Y48* 1 NULL NULL - no_errors C4BPA 722 hgsc.bcm.edu 36 1 205364250 205364250 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 205364250 205364250 T C SNP C4BPA NM_000715 human genbank 54_36p 1 reviewed missense c.622 p.S208P 0.02 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CACNA1E 777 hgsc.bcm.edu 36 1 180007076 180007076 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 180007076 180007076 G A SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed missense c.4906 p.E1636K 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1S 779 hgsc.bcm.edu 36 1 199319053 199319053 + Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 199319053 199319053 T - DEL CACNA1S NM_000069 human genbank 54_36p -1 reviewed frame_shift_del c.1253 p.N418fs 1 superfamily_SSF81324 "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" "(deletion:cds_exon[199318913,199319073])" no_errors CADM3 57863 hgsc.bcm.edu 36 1 157430347 157430347 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 157430347 157430347 C T SNP CADM3 NM_021189 human genbank 54_36p 1 validated missense c.686 p.T229I 0.05 "superfamily_SSF48726,HMMPfam_C2-set_2,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_4.1m" - no_errors CADM3 57863 hgsc.bcm.edu 36 1 157436271 157436271 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 157436271 157436271 C A SNP CADM3 NM_021189 human genbank 54_36p 1 validated missense c.1161 p.H387Q 0.96 HMMSmart_4.1m "HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726" - no_errors CAMSAP1L1 23271 hgsc.bcm.edu 36 1 199084781 199084781 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 199084781 199084781 G T SNP CAMSAP1L1 NM_203459 human genbank 54_36p 1 validated missense c.2261 p.R754M 1 NULL "superfamily_Calponin-homology domain CH-domain,superfamily_PRC-barrel domain,HMMPfam_DUF1781" - no_errors CAMTA1 23261 hgsc.bcm.edu 36 1 7660282 7660282 + Missense_Mutation SNP T T A novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 7660282 7660282 T A SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated missense c.2816 p.F939Y 1 "superfamily_E set domains,HMMPfam_TIG" "HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ" - no_errors CASP9 842 hgsc.bcm.edu 36 1 15703827 15703827 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 15703827 15703827 T G SNP CASP9 NM_001229 human genbank 54_36p -1 reviewed missense c.734 p.Q245P 1 "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14" "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CCDC18 343099 hgsc.bcm.edu 36 1 93453031 93453031 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 93453031 93453031 G A SNP CCDC18 NM_206886 human genbank 54_36p 1 validated missense c.1993 p.A665T 1 NULL superfamily_Prefoldin - no_errors CCNL2 81669 hgsc.bcm.edu 36 1 1312554 1312554 + Silent SNP G G T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 1312554 1312554 G T SNP CCNL2 NM_030937 human genbank 54_36p -1 validated silent c.1483 p.R495 1 NULL "HMMPfam_Cyclin_N,superfamily_Cyclin-like,HMMSmart_SM00385" - no_errors CDA 978 hgsc.bcm.edu 36 1 20804076 20804076 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 20804076 20804076 G A SNP CDA NM_001785 human genbank 54_36p 1 reviewed missense c.223 p.V75I 0.99 "HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES" "HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES" - no_errors CDC20 991 hgsc.bcm.edu 36 1 43600550 43600550 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 43600550 43600550 C A SNP CDC20 NM_001255 human genbank 54_36p 1 reviewed missense c.1301 p.A434D 1 "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CDK11B 984 hgsc.bcm.edu 36 1 1640657 1640657 + Splice_Site SNP A A G rs1059830 Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 1640657 1640657 A G SNP CDC2L1 NM_033492 human genbank 54_36p -1 reviewed splice_site c.324+1 e3+1 0.99 - - - no_errors CDC42BPA 8476 hgsc.bcm.edu 36 1 225249204 225249204 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 225249204 225249204 C G SNP CDC42BPA NM_003607 human genbank 54_36p -1 reviewed missense c.4971 p.L1657F 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CDC73 79577 hgsc.bcm.edu 36 1 191448182 191448182 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 191448182 191448182 C A SNP CDC73 NM_024529 human genbank 54_36p 1 validated missense c.1106 p.T369N 1 HMMPfam_CDC73 HMMPfam_CDC73 - no_errors CELA3B 23436 hgsc.bcm.edu 36 1 22185724 22185724 + Silent SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 22185724 22185724 G A SNP ELA3B NM_007352 human genbank 54_36p 1 reviewed silent c.756 p.V252 1 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors CENPF 1063 hgsc.bcm.edu 36 1 212885501 212885501 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 212885501 212885501 C G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed missense c.5965 p.Q1989E 0.58 NULL "HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F" - no_errors CFHR2 3080 hgsc.bcm.edu 36 1 195185355 195185355 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 195185355 195185355 G A SNP CFHR2 NM_005666 human genbank 54_36p 1 validated missense c.206 p.R69H 0 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CHD1L 9557 hgsc.bcm.edu 36 1 145222748 145222748 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 145222748 145222748 T C SNP CHD1L ENST00000361293 human ensembl 54_36p 1 known missense c.1463 p.F488S 0.97 NULL "superfamily_SSF52540,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors CHML 1122 hgsc.bcm.edu 36 1 239863810 239863810 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 239863810 239863810 G A SNP CHML NM_001821 human genbank 54_36p -1 reviewed missense c.1882 p.P628S 0.01 NULL "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain" - no_errors CHML 1122 hgsc.bcm.edu 36 1 239864151 239864151 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 239864151 239864151 G C SNP CHML NM_001821 human genbank 54_36p -1 reviewed missense c.1541 p.S514C 0.77 "HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" "HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors CLCA1 1179 hgsc.bcm.edu 36 1 86729572 86729572 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 86729572 86729572 A G SNP CLCA1 NM_001285 human genbank 54_36p 1 reviewed missense c.1394 p.N465S 1 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "HMMPfam_CLCA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_DUF1973,PatternScan_ATPASE_GAMMA" - no_errors CLCA2 9635 hgsc.bcm.edu 36 1 86662672 86662672 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 86662672 86662672 C A SNP CLCA2 NM_006536 human genbank 54_36p 1 reviewed missense c.154 p.P52T 0.26 HMMPfam_CLCA_N "HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973" - no_errors CLCA4 22802 hgsc.bcm.edu 36 1 86809426 86809426 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 86809426 86809426 T A SNP CLCA4 NM_012128 human genbank 54_36p 1 reviewed missense c.1261 p.S421T 0 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" "HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973" - no_errors CNTN2 6900 hgsc.bcm.edu 36 1 203305707 203305707 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 203305707 203305707 G C SNP CNTN2 NM_005076 human genbank 54_36p 1 reviewed missense c.2326 p.E776Q 0.99 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors COL11A1 1301 hgsc.bcm.edu 36 1 103260930 103260930 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 103260930 103260930 A C SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.1237 p.F413V 1 NULL "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI" - no_errors COL9A2 1298 hgsc.bcm.edu 36 1 40544435 40544435 + Silent SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 40544435 40544435 G A SNP COL9A2 NM_001852 human genbank 54_36p -1 reviewed silent c.1020 p.G340 0.94 NULL HMMPfam_Collagen - no_errors COL9A2 1298 hgsc.bcm.edu 36 1 40552478 40552479 + Frame_Shift_Ins INS - - GA novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 40552478 40552479 - GA INS COL9A2 NM_001852 human genbank 54_36p -1 reviewed frame_shift_ins c.235_234 p.K78fs 0.946:0.859 HMMPfam_Collagen HMMPfam_Collagen - no_errors CRB1 23418 hgsc.bcm.edu 36 1 195677953 195677953 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 195677953 195677953 C G SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.3913 p.P1305A 1 "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF" ############################################################################################################################################################################################################################################################### - no_errors CREB3L4 148327 hgsc.bcm.edu 36 1 152207768 152207768 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 152207768 152207768 A G SNP CREB3L4 NM_130898 human genbank 54_36p 1 provisional missense c.143 p.Q48R 0.81 NULL "superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1,HMMSmart_BRLZ" - no_errors CRP 1401 hgsc.bcm.edu 36 1 157950307 157950307 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 157950307 157950307 C T SNP CRP NM_000567 human genbank 54_36p -1 validated missense c.307 p.E103K 0 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00159,HMMPfam_Pentaxin" "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00159,HMMPfam_Pentaxin,PatternScan_PENTAXIN" - no_errors CSF1 1435 hgsc.bcm.edu 36 1 110265998 110265998 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 110265998 110265998 G A SNP CSF1 NM_000757 human genbank 54_36p 1 validated missense c.403 p.V135I 0.92 "HMMPfam_CSF-1,superfamily_4-helical cytokines" "HMMPfam_CSF-1,superfamily_4-helical cytokines" - no_errors CSRP1 1465 hgsc.bcm.edu 36 1 199725932 199725932 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 199725932 199725932 G C SNP CSRP1 NM_004078 human genbank 54_36p -1 reviewed missense c.276 p.H92Q 0.81 superfamily_Glucocorticoid receptor-like (DNA-binding domain) "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors CTSE 1510 hgsc.bcm.edu 36 1 204486930 204486930 + Silent SNP C C T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 204486930 204486930 C T SNP CTSE NM_001910 human genbank 54_36p 1 reviewed silent c.450 p.A150 0.06 "superfamily_Pept_Aspartic,HMMPfam_Asp" "superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors CTSE 1510 hgsc.bcm.edu 36 1 204495402 204495402 + Silent SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 204495402 204495402 A T SNP CTSE NM_001910 human genbank 54_36p 1 reviewed silent c.846 p.T282 0.94 "HMMPfam_Asp,PatternScan_ASP_PROTEASE,superfamily_Pept_Aspartic" "HMMPfam_Asp,PatternScan_ASP_PROTEASE,superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide" - no_errors CYP4A11 1579 hgsc.bcm.edu 36 1 47173864 47173864 + Missense_Mutation SNP C C A rs62618709 Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 47173864 47173864 C A SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.553 p.V185F 0.78 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP4A11 1579 hgsc.bcm.edu 36 1 47173864 47173864 + Missense_Mutation SNP C C A rs62618709 Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 47173864 47173864 C A SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.553 p.V185F 0.78 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors DCST2 127579 hgsc.bcm.edu 36 1 153265698 153265698 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 153265698 153265698 C A SNP DCST2 NM_144622 human genbank 54_36p -1 validated missense c.1460 p.R487L 0.99 HMMPfam_DC_STAMP HMMPfam_DC_STAMP - no_errors DDOST 1650 hgsc.bcm.edu 36 1 20854540 20854540 + Silent SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 20854540 20854540 G A SNP DDOST NM_005216 human genbank 54_36p -1 reviewed silent c.582 p.P194 1 HMMPfam_DDOST_48kD HMMPfam_DDOST_48kD - no_errors DDX59 83479 hgsc.bcm.edu 36 1 198884312 198884312 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 198884312 198884312 G C SNP DDX59 NM_001031725 human genbank 54_36p -1 validated missense c.1474 p.L492V 0.54 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" "HMMPfam_zf-HIT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors DLGAP3 58512 hgsc.bcm.edu 36 1 35142860 35142860 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 35142860 35142860 G A SNP DLGAP3 NM_001080418 human genbank 54_36p -1 provisional missense c.712 p.H238Y 1 NULL HMMPfam_GKAP - no_errors DNAJC11 55735 hgsc.bcm.edu 36 1 6620969 6620973 + Frame_Shift_Del DEL CAGCA CAGCA - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 CAGCA CAGCA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 6620969 6620973 CAGCA - DEL DNAJC11 NM_018198 human genbank 54_36p -1 validated frame_shift_del c.1296_1292 p.V431fs 1.000:1.000:0.996:0.788:0.997 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1" "(deletion:cds_exon[6620942,6621011])" no_errors E2F2 1870 hgsc.bcm.edu 36 1 23709034 23709034 + Silent SNP C C A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 23709034 23709034 C A SNP E2F2 NM_004091 human genbank 54_36p -1 reviewed silent c.1239 p.L413 1 NULL "superfamily_SSF46785,HMMPfam_E2F_TDP" - no_errors ECM1 1893 hgsc.bcm.edu 36 1 148750264 148750264 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 148750264 148750264 G C SNP ECM1 NM_004425 human genbank 54_36p 1 reviewed missense c.674 p.S225T 0 "HMMPfam_ECM1,superfamily_Serum albumin-like" "HMMPfam_ECM1,superfamily_Serum albumin-like" - no_errors EPS8L3 79574 hgsc.bcm.edu 36 1 110101296 110101296 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 110101296 110101296 G T SNP EPS8L3 NM_139053 human genbank 54_36p -1 reviewed nonsense c.987 p.C329* 0.8 NULL "HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors EPS8L3 79574 hgsc.bcm.edu 36 1 110103248 110103248 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 110103248 110103248 C A SNP EPS8L3 NM_139053 human genbank 54_36p -1 reviewed missense c.420 p.K140N 0.01 HMMPfam_PTB "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PTB" - no_errors ETV3L 440695 hgsc.bcm.edu 36 1 155329520 155329520 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 155329520 155329520 A G SNP ETV3L NM_001004341 human genbank 54_36p -1 provisional missense c.631 p.C211R 0.02 NULL "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors F11R 50848 hgsc.bcm.edu 36 1 159237075 159237075 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 159237075 159237075 C A SNP F11R NM_016946 human genbank 54_36p -1 reviewed missense c.358 p.G120W 0.99 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors FAAH 2166 hgsc.bcm.edu 36 1 46644311 46644311 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 46644311 46644311 A T SNP FAAH NM_001441 human genbank 54_36p 1 reviewed missense c.800 p.K267M 1 "superfamily_Amidase_sig_enz,HMMPfam_Amidase" "superfamily_Amidase_sig_enz,HMMPfam_Amidase,PatternScan_AMIDASES" - no_errors FABP3 2170 hgsc.bcm.edu 36 1 31618396 31618396 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 31618396 31618396 T A SNP FABP3 NM_004102 human genbank 54_36p -1 reviewed missense c.53 p.D18V 1 "superfamily_Lipocalins,HMMPfam_Lipocalin,PatternScan_FABP" "superfamily_Lipocalins,HMMPfam_Lipocalin,PatternScan_FABP" - no_errors FAM129A 116496 hgsc.bcm.edu 36 1 183059456 183059456 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 183059456 183059456 T G SNP FAM129A NM_052966 human genbank 54_36p -1 validated missense c.761 p.Q254P 1 NULL NULL - no_errors FAM163A 148753 hgsc.bcm.edu 36 1 178049624 178049624 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 178049624 178049624 A T SNP FAM163A NM_173509 human genbank 54_36p 1 provisional missense c.181 p.T61S 0.77 NULL NULL - no_errors FAM177B 400823 hgsc.bcm.edu 36 1 220989520 220989520 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 220989520 220989520 A C SNP FAM177B NM_207468 human genbank 54_36p 1 validated missense c.332 p.Q111P 0.12 NULL NULL - no_errors FAM5B 57795 hgsc.bcm.edu 36 1 175509332 175509332 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 175509332 175509332 A G SNP FAM5B NM_021165 human genbank 54_36p 1 provisional missense c.755 p.E252G 1 HMMSmart_SM00457 HMMSmart_SM00457 - no_errors FAM5C 339479 hgsc.bcm.edu 36 1 188396505 188396505 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 188396505 188396505 A G SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.1100 p.L367P 0.97 NULL "HMMPfam_MACPF,HMMSmart_SM00457" - no_errors FBXO28 23219 hgsc.bcm.edu 36 1 222384835 222384835 + Silent SNP G G A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 222384835 222384835 G A SNP FBXO28 NM_015176 human genbank 54_36p 1 validated silent c.306 p.L102 1 NULL HMMPfam_F-box - no_errors FBXO6 26270 hgsc.bcm.edu 36 1 11655959 11655959 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 11655959 11655959 T A SNP FBXO6 NM_018438 human genbank 54_36p 1 reviewed missense c.548 p.L183H 0.01 "HMMPfam_FBA,superfamily_Galactose-binding domain-like" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMPfam_FBA,superfamily_Galactose-binding domain-like" - no_errors FCRL1 115350 hgsc.bcm.edu 36 1 156038902 156038902 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 156038902 156038902 C T SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional missense c.496 p.A166T 0.04 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL3 115352 hgsc.bcm.edu 36 1 155932605 155932605 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 155932605 155932605 T A SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed missense c.981 p.R327S 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,PatternScan_N6_MTASE,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL4 83417 hgsc.bcm.edu 36 1 155825629 155825629 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 155825629 155825629 A C SNP FCRL4 NM_031282 human genbank 54_36p -1 provisional missense c.296 p.L99R 0 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL6 343413 hgsc.bcm.edu 36 1 158045941 158045941 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 158045941 158045941 G A SNP FCRL6 NM_001004310 human genbank 54_36p 1 validated missense c.730 p.D244N 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FLG 2312 hgsc.bcm.edu 36 1 150553011 150553011 + Silent SNP C C T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 150553011 150553011 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.975 p.A325 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin" - no_errors FLG2 388698 hgsc.bcm.edu 36 1 150590163 150590163 + Silent SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 150590163 150590163 T C SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional silent c.6723 p.T2241 0 NULL "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin" - no_errors GBP5 115362 hgsc.bcm.edu 36 1 89503201 89503201 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 89503201 89503201 A T SNP GBP5 NM_052942 human genbank 54_36p -1 validated missense c.905 p.I302N 1 "HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors GBP6 163351 hgsc.bcm.edu 36 1 89618566 89618566 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 89618566 89618566 C T SNP GBP6 NM_198460 human genbank 54_36p 1 validated missense c.659 p.P220L 0.33 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors GJA5 2702 hgsc.bcm.edu 36 1 145697869 145697869 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 145697869 145697869 C T SNP GJA5 NM_005266 human genbank 54_36p -1 reviewed missense c.102 p.M34I 1 HMMPfam_Connexin "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors GLT25D2 23127 hgsc.bcm.edu 36 1 182210943 182210943 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 182210943 182210943 G T SNP GLT25D2 NM_015101 human genbank 54_36p -1 validated missense c.403 p.H135N 1 NULL "HMMPfam_Glyco_transf_25,PatternScan_ER_TARGET" - no_errors GNL2 29889 hgsc.bcm.edu 36 1 37833980 37833980 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 37833980 37833980 T G SNP GNL2 NM_013285 human genbank 54_36p -1 validated missense c.31 p.T11P 1 NULL "HMMPfam_NGP1NT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1" - no_errors GNPAT 8443 hgsc.bcm.edu 36 1 229468420 229468420 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 229468420 229468420 A C SNP GNPAT NM_014236 human genbank 54_36p 1 reviewed missense c.810 p.R270S 1 "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" - no_errors GPATCH2 55105 hgsc.bcm.edu 36 1 215671253 215671253 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 215671253 215671253 G A SNP GPATCH2 NM_018040 human genbank 54_36p -1 provisional missense c.1444 p.P482S 1 "HMMSmart_SM00443,HMMPfam_G-patch" "HMMSmart_SM00443,HMMPfam_G-patch" - no_errors GRIK3 2899 hgsc.bcm.edu 36 1 37044371 37044371 + Silent SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 37044371 37044371 G A SNP GRIK3 NM_000831 human genbank 54_36p -1 reviewed silent c.2235 p.Y745 1 "HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan" "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,superfamily_SSF55620" - no_errors HEATR1 55127 hgsc.bcm.edu 36 1 234817932 234817932 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 234817932 234817932 A T SNP HEATR1 NM_018072 human genbank 54_36p -1 validated missense c.1565 p.V522D 0.97 NULL "superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT" - no_errors HEATR1 55127 hgsc.bcm.edu 36 1 234823964 234823964 + Silent SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 234823964 234823964 C A SNP HEATR1 NM_018072 human genbank 54_36p -1 validated silent c.1164 p.L388 0.99 NULL "HMMPfam_HEAT,HMMPfam_BP28CT,superfamily_ARM-type_fold" - no_errors HFE2 148738 hgsc.bcm.edu 36 1 144127758 144127758 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 144127758 144127758 A G SNP HFE2 NM_213653 human genbank 54_36p 1 reviewed missense c.746 p.D249G 1 HMMPfam_RGM_C "HMMPfam_RGM_N,HMMPfam_RGM_C" - no_errors HHIPL2 79802 hgsc.bcm.edu 36 1 220783875 220783875 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 220783875 220783875 G A SNP HHIPL2 NM_024746 human genbank 54_36p -1 validated missense c.601 p.P201S 0.03 superfamily_Quino_gluc_DH superfamily_Quino_gluc_DH - no_errors HLX 3142 hgsc.bcm.edu 36 1 219124398 219124398 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 219124398 219124398 G A SNP HLX NM_021958 human genbank 54_36p 1 validated missense c.1196 p.R399H 0.28 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184145146 184145146 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 184145146 184145146 A G SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.676 p.T226A 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184147523 184147523 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 184147523 184147523 G A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.888 p.M296I 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184254030 184254030 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 184254030 184254030 C G SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed nonsense c.5393 p.S1798* 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184273689 184273689 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 184273689 184273689 A T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.5750 p.E1917V 1 superfamily_Immunoglobulin ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184275617 184275617 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 184275617 184275617 T G SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.6163 p.F2055V 0.97 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184306404 184306404 + Silent SNP A A G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 184306404 184306404 A G SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.8031 p.P2677 0.22 superfamily_Immunoglobulin ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184310531 184310531 + Silent SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 184310531 184310531 G A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.8175 p.A2725 0.99 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184342660 184342660 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 184342660 184342660 A T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.10792 p.T3598S 1 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184380031 184380031 + Silent SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 184380031 184380031 G A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.14028 p.A4676 0.53 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 hgsc.bcm.edu 36 1 184388576 184388576 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 184388576 184388576 G T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.14968 p.V4990L 1 "HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like" ############################################################################################################################################################################################################################################################### - no_errors HOOK1 51361 hgsc.bcm.edu 36 1 60096727 60096727 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 60096727 60096727 G A SNP HOOK1 NM_015888 human genbank 54_36p 1 reviewed missense c.1282 p.E428K 1 HMMPfam_HOOK "HMMPfam_HOOK,superfamily_Prefoldin" - no_errors HRNR 388697 hgsc.bcm.edu 36 1 150462353 150462353 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 150462353 150462353 T - DEL HRNR NM_001009931 human genbank 54_36p -1 validated frame_shift_del c.1 p.M1fs 0.99 superfamily_SSF47473 "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK" "(deletion:cds_exon[150462216,150462353])" no_errors HRNR 388697 hgsc.bcm.edu 36 1 150462353 150462353 + Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 150462353 150462353 T - DEL HRNR NM_001009931 human genbank 54_36p -1 validated frame_shift_del c.1 p.M1fs 0.99 superfamily_SSF47473 "PatternScan_S100_CABP,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,superfamily_SSF47473" "(deletion:cds_exon[150462216,150462353])" no_errors HSPG2 3339 hgsc.bcm.edu 36 1 22041909 22041909 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 22041909 22041909 G C SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.8851 p.Q2951E 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 hgsc.bcm.edu 36 1 22086561 22086561 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 22086561 22086561 G C SNP HSPG2 ENST00000311538 human ensembl 54_36p -1 known missense c.665 p.P222R 0.56 NULL NULL - no_start_codon IARS2 55699 hgsc.bcm.edu 36 1 218377959 218377959 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 218377959 218377959 T A SNP IARS2 NM_018060 human genbank 54_36p 1 validated missense c.2126 p.V709D 1 "superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1" ############################################################################################################################################################################################################################################################### - no_errors IFI6 2537 hgsc.bcm.edu 36 1 27865537 27865537 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C G G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 27865537 27865537 C G SNP IFI6 NM_022873 human genbank 54_36p -1 reviewed missense c.359 p.G120A 0.05 HMMPfam_Ifi-6-16 HMMPfam_Ifi-6-16 - no_errors IKBKE 9641 hgsc.bcm.edu 36 1 204724975 204724975 + Silent SNP A A G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A G G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 204724975 204724975 A G SNP IKBKE NM_014002 human genbank 54_36p 1 validated silent c.1446 p.G482 0.2 NULL "PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP" - no_errors IL19 29949 hgsc.bcm.edu 36 1 205082537 205082537 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 205082537 205082537 G A SNP IL19 NM_153758 human genbank 54_36p 1 reviewed missense c.595 p.D199N 0.01 "HMMPfam_IL10,superfamily_4_helix_cytokine,HMMSmart_IL10" "HMMPfam_IL10,superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10" - no_errors IL23R 149233 hgsc.bcm.edu 36 1 67421114 67421114 + Silent SNP A A T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 67421114 67421114 A T SNP IL23R NM_144701 human genbank 54_36p 1 reviewed silent c.375 p.P125 1 superfamily_Fibronectin type III "superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors IL6R 3570 hgsc.bcm.edu 36 1 152687256 152687256 + Silent SNP G G T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 152687256 152687256 G T SNP IL6R NM_000565 human genbank 54_36p 1 reviewed silent c.981 p.V327 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMPfam_IL6Ra-bind,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3" - no_errors IL6R 3570 hgsc.bcm.edu 36 1 152704402 152704402 + Silent SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 152704402 152704402 G A SNP IL6R NM_000565 human genbank 54_36p 1 reviewed silent c.1329 p.S443 0 NULL "PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_ig,HMMPfam_IL6Ra-bind,superfamily_Immunoglobulin" - no_errors INADL 10207 hgsc.bcm.edu 36 1 62137900 62137900 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 62137900 62137900 G T SNP INADL NM_176877 human genbank 54_36p 1 reviewed missense c.3189 p.W1063C 1 superfamily_PDZ domain-like "HMMPfam_L27_2,HMMSmart_SM00569,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors INPP5B 3633 hgsc.bcm.edu 36 1 38125648 38125648 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 38125648 38125648 C A SNP INPP5B NM_005540 human genbank 54_36p -1 reviewed missense c.976 p.V326L 1 "superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos" "PatternScan_LECTIN_LEGUME_BETA,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors IPO9 55705 hgsc.bcm.edu 36 1 200107005 200107005 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 200107005 200107005 G A SNP IPO9 NM_018085 human genbank 54_36p 1 validated missense c.2503 p.A835T 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N" - no_errors IQGAP3 128239 hgsc.bcm.edu 36 1 154762923 154762923 + Silent SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 154762923 154762923 G A SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.4875 p.N1625 1 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C" - no_errors DCAF6 55827 hgsc.bcm.edu 36 1 166299619 166299619 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 166299619 166299619 A G SNP IQWD1 NM_018442 human genbank 54_36p 1 validated missense c.2224 p.M742V 1 "superfamily_WD40_like,HMMSmart_WD40" "HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,HMMSmart_IQ" - no_errors IRF6 3664 hgsc.bcm.edu 36 1 208030850 208030850 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 208030850 208030850 C G SNP IRF6 NM_006147 human genbank 54_36p -1 reviewed missense c.673 p.D225H 1 "superfamily_SMAD_FHA,HMMPfam_IRF-3" "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3" - no_errors ITPKB 3707 hgsc.bcm.edu 36 1 224889110 224889110 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 224889110 224889110 G C SNP ITPKB NM_002221 human genbank 54_36p -1 reviewed missense c.2726 p.T909S 1 "HMMPfam_IPK,superfamily_SAICAR synthase-like" "HMMPfam_IPK,superfamily_SAICAR synthase-like" - no_errors IVL 3713 hgsc.bcm.edu 36 1 151149735 151149735 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 151149735 151149735 A T SNP IVL NM_005547 human genbank 54_36p 1 reviewed missense c.838 p.M280L 0 HMMPfam_Involucrin "PatternScan_INVOLUCRIN,HMMPfam_Involucrin_N,HMMPfam_Involucrin" - no_errors IVNS1ABP 10625 hgsc.bcm.edu 36 1 183537277 183537277 + Silent SNP G G A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 183537277 183537277 G A SNP IVNS1ABP NM_006469 human genbank 54_36p -1 validated silent c.807 p.S269 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors IVNS1ABP 10625 hgsc.bcm.edu 36 1 183544621 183544621 + Silent SNP T T A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 183544621 183544621 T A SNP IVNS1ABP NM_006469 human genbank 54_36p -1 validated silent c.291 p.A97 0.98 "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors KCNC4 3749 hgsc.bcm.edu 36 1 110567135 110567135 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 110567135 110567135 C A SNP KCNC4 NM_004978 human genbank 54_36p 1 reviewed missense c.705 p.F235L 1 superfamily_Voltage-gated potassium channels "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCNJ9 3765 hgsc.bcm.edu 36 1 158324018 158324018 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 158324018 158324018 C A SNP KCNJ9 NM_004983 human genbank 54_36p 1 reviewed missense c.969 p.H323Q 1 "HMMPfam_IRK,superfamily_Ig_E-set" "HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set" - no_errors KIAA1614 57710 hgsc.bcm.edu 36 1 179152716 179152716 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 179152716 179152716 G T SNP KIAA1614 NM_020950 human genbank 54_36p 1 validated missense c.854 p.G285V 0 NULL NULL - no_errors KIAA1751 85452 hgsc.bcm.edu 36 1 1910196 1910197 + In_Frame_Ins INS - - CCC novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 1910196 1910197 - CCC INS KIAA1751 NM_001080484 human genbank 54_36p -1 predicted in_frame_ins c.144_143 p.49in_frame_insG 0.000:0.000 NULL NULL - no_errors KIF14 9928 hgsc.bcm.edu 36 1 198837703 198837703 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 198837703 198837703 C T SNP KIF14 NM_014875 human genbank 54_36p -1 validated missense c.2096 p.R699H 1 "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin" "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA" - no_errors KIF17 57576 hgsc.bcm.edu 36 1 20886897 20886897 + Silent SNP C C T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 20886897 20886897 C T SNP KIF17 NM_020816 human genbank 54_36p -1 validated silent c.1509 p.T503 0 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF1B 23095 hgsc.bcm.edu 36 1 10308776 10308776 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 10308776 10308776 G T SNP KIF1B NM_015074 human genbank 54_36p 1 reviewed missense c.2558 p.C853F 1 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors KIF21B 23046 hgsc.bcm.edu 36 1 199222879 199222879 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 199222879 199222879 G T SNP KIF21B NM_017596 human genbank 54_36p -1 provisional missense c.3482 p.T1161N 1 superfamily_WD40_like "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors KLHL20 27252 hgsc.bcm.edu 36 1 172010130 172010130 + Silent SNP G G C novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 172010130 172010130 G C SNP KLHL20 NM_014458 human genbank 54_36p 1 reviewed silent c.1359 p.V453 0.99 "superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors KPRP 448834 hgsc.bcm.edu 36 1 150998772 150998772 + Silent SNP C C T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 150998772 150998772 C T SNP KPRP NM_001025231 human genbank 54_36p 1 provisional silent c.84 p.S28 0 NULL NULL - no_errors KTI12 112970 hgsc.bcm.edu 36 1 52271160 52271160 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 52271160 52271160 C A SNP KTI12 NM_138417 human genbank 54_36p -1 validated missense c.862 p.A288S 0.96 HMMPfam_KTI12 "superfamily_SSF52540,HMMPfam_KTI12" - no_errors L1TD1 54596 hgsc.bcm.edu 36 1 62449200 62449200 + Silent SNP A A G novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 62449200 62449200 A G SNP L1TD1 NM_019079 human genbank 54_36p 1 validated silent c.2166 p.K722 0.48 HMMPfam_Transposase_22 HMMPfam_Transposase_22 - no_errors LCK 3932 hgsc.bcm.edu 36 1 32512572 32512572 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 32512572 32512572 G T SNP LCK NM_001042771 human genbank 54_36p 1 reviewed missense c.55 p.V19L 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LEPR 3953 hgsc.bcm.edu 36 1 65875250 65875250 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 65875250 65875250 G C SNP LEPR NM_002303 human genbank 54_36p 1 validated missense c.3462 p.K1154N 0.68 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1,HMMPfam_Lep_receptor_Ig,PatternScan_HEMATOPO_REC_L_F2" - no_errors LEPRE1 64175 hgsc.bcm.edu 36 1 42985635 42985635 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 42985635 42985635 T - DEL LEPRE1 NM_022356 human genbank 54_36p -1 reviewed frame_shift_del c.1950 p.F651fs 0.99 "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" "superfamily_SSF48452,HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" "(deletion:cds_exon[42985170,42985670])" no_errors LGR6 59352 hgsc.bcm.edu 36 1 200516573 200516585 + Frame_Shift_Del DEL GCTTCGAGGGGCT GCTTCGAGGGGCT - novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 GCTTCGAGGGGCT GCTTCGAGGGGCT GCTTCGAGGGGCT - GCTTCGAGGGGCT GCTTCGAGGGGCT Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 200516573 200516585 GCTTCGAGGGGCT - DEL LGR6 NM_001017403 human genbank 54_36p 1 reviewed frame_shift_del c.686_698 p.F230fs 1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_RNI-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like,HMMSmart_SM00369,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "(deletion:cds_exon[200516532,200516603])" no_errors LIN9 286826 hgsc.bcm.edu 36 1 224563500 224563501 + In_Frame_Ins INS - - TGC novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 224563500 224563501 - TGC INS LIN9 NM_173083 human genbank 54_36p -1 provisional in_frame_ins c.12_11 p.5in_frame_insH 1.000:1.000 NULL HMMPfam_DIRP - no_errors LIX1L 128077 hgsc.bcm.edu 36 1 144203726 144203726 + Silent SNP T T A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 144203726 144203726 T A SNP LIX1L NM_153713 human genbank 54_36p 1 provisional silent c.591 p.S197 1 NULL NULL - no_errors LPAR3 23566 hgsc.bcm.edu 36 1 85052402 85052402 + Silent SNP C C T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 85052402 85052402 C T SNP LPAR3 NM_012152 human genbank 54_36p -1 reviewed silent c.777 p.L259 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LPHN2 23266 hgsc.bcm.edu 36 1 82075294 82075294 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 82075294 82075294 T C SNP LPHN2 NM_012302 human genbank 54_36p 1 reviewed missense c.37 p.F13L 1 NULL "HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_SM00284,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin" - no_errors LPHN2 23266 hgsc.bcm.edu 36 1 82228764 82228764 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 82228764 82228764 G A SNP LPHN2 NM_012302 human genbank 54_36p 1 reviewed missense c.3559 p.D1187N 1 HMMPfam_Latrophilin "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_Gal_Lectin,HMMPfam_HRM,HMMSmart_SM00008,HMMPfam_OLF,HMMSmart_SM00284,HMMPfam_Latrophilin,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors LRRC47 57470 hgsc.bcm.edu 36 1 3687595 3687595 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 3687595 3687595 C A SNP LRRC47 NM_020710 human genbank 54_36p -1 validated missense c.1669 p.D557Y 1 NULL "superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMPfam_B3_4" - no_errors LRRC7 57554 hgsc.bcm.edu 36 1 70274878 70274878 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 70274878 70274878 T G SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.2157 p.N719K 1 NULL "superfamily_L domain-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors LRRC7 57554 hgsc.bcm.edu 36 1 70314368 70314368 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 70314368 70314368 G A SNP LRRC7 NM_020794 human genbank 54_36p 1 validated silent c.4137 p.T1379 0.31 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors LRRC8C 84230 hgsc.bcm.edu 36 1 89951416 89951416 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 89951416 89951416 G T SNP LRRC8C NM_032270 human genbank 54_36p 1 validated missense c.699 p.K233N 1 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors MACF1 23499 hgsc.bcm.edu 36 1 39595898 39595898 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 39595898 39595898 G A SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.7009 p.E2337K 1 "superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC" "superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2" - no_errors MACF1 23499 hgsc.bcm.edu 36 1 39625884 39625884 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 39625884 39625884 A G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.10103 p.E3368G 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MACF1 23499 hgsc.bcm.edu 36 1 39668235 39668235 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 39668235 39668235 G C SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.12358 p.G4120R 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MAD2L2 10459 hgsc.bcm.edu 36 1 11658751 11658751 + Frame_Shift_Del DEL C C - novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 11658751 11658751 C - DEL MAD2L2 NM_006341 human genbank 54_36p -1 reviewed frame_shift_del c.366 p.L123fs 1 "superfamily_The spindle assembly checkpoint protein mad2,HMMPfam_HORMA" "superfamily_The spindle assembly checkpoint protein mad2,HMMPfam_HORMA" "(deletion:cds_exon[11658690,11658784])" no_errors MARK1 4139 hgsc.bcm.edu 36 1 218875350 218875350 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 218875350 218875350 G A SNP MARK1 NM_018650 human genbank 54_36p 1 validated missense c.1132 p.G378S 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Kinase associated domain 1 KA1,HMMPfam_KA1" - no_errors MFSD2A 84879 hgsc.bcm.edu 36 1 40195401 40195401 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 40195401 40195401 C G SNP MFSD2 NM_032793 human genbank 54_36p 1 validated missense c.149 p.A50G 1 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors MIA3 375056 hgsc.bcm.edu 36 1 220869082 220869082 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 220869082 220869082 T C SNP MIA3 NM_198551 human genbank 54_36p 1 validated missense c.1897 p.S633P 0.13 NULL "superfamily_SH3-domain,HMMPfam_SH3_2" - no_errors MIA3 375056 hgsc.bcm.edu 36 1 220870005 220870005 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 220870005 220870005 G C SNP MIA3 NM_198551 human genbank 54_36p 1 validated missense c.2820 p.Q940H 0.96 NULL "superfamily_SH3-domain,HMMPfam_SH3_2" - no_errors MMEL1 79258 hgsc.bcm.edu 36 1 2517896 2517896 + Silent SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 2517896 2517896 G A SNP MMEL1 NM_033467 human genbank 54_36p -1 reviewed silent c.1338 p.Y446 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors MORN1 79906 hgsc.bcm.edu 36 1 2295839 2295839 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 2295839 2295839 G T SNP MORN1 NM_024848 human genbank 54_36p -1 provisional missense c.555 p.D185E 0.02 "superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN" "superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN" - no_errors MORN1 79906 hgsc.bcm.edu 36 1 2307164 2307164 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 2307164 2307164 C T SNP MORN1 NM_024848 human genbank 54_36p -1 provisional missense c.391 p.V131M 0.01 "HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain" "HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain" - no_errors PRSS38 339501 hgsc.bcm.edu 36 1 226071694 226071694 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 226071694 226071694 C T SNP MPN2 NM_183062 human genbank 54_36p 1 validated missense c.473 p.T158I 0.02 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors MRPL9 65005 hgsc.bcm.edu 36 1 150000577 150000577 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 150000577 150000577 T C SNP MRPL9 NM_031420 human genbank 54_36p -1 reviewed missense c.562 p.I188V 1 NULL "HMMPfam_Ribosomal_L9_N,superfamily_L9 N-domain-like" - no_errors MTF2 22823 hgsc.bcm.edu 36 1 93374936 93374936 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 93374936 93374936 G T SNP MTF2 NM_007358 human genbank 54_36p 1 validated missense c.1546 p.V516L 1 NULL "HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors MTOR 2475 hgsc.bcm.edu 36 1 11195520 11195520 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 11195520 11195520 G C SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.3318 p.N1106K 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_SSF48452,HMMPfam_FAT,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors MTOR 2475 hgsc.bcm.edu 36 1 11195530 11195530 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 11195530 11195530 A T SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.3308 p.F1103Y 1 superfamily_ARM-type_fold "HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_FAT,HMMPfam_FATC,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF48452" - no_errors MTOR 2475 hgsc.bcm.edu 36 1 11213970 11213970 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 11213970 11213970 C T SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.2623 p.E875K 1 superfamily_ARM-type_fold "HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_FAT,HMMPfam_FATC,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF48452" - no_errors MYCL1 4610 hgsc.bcm.edu 36 1 40135829 40135829 + Silent SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 40135829 40135829 C G SNP MYCL1 NM_001033081 human genbank 54_36p -1 validated silent c.897 p.S299 0.06 "HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353" "HMMPfam_Myc_N,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353" - no_errors MYOM3 127294 hgsc.bcm.edu 36 1 24306263 24306263 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 24306263 24306263 G A SNP MYOM3 NM_152372 human genbank 54_36p -1 validated nonsense c.289 p.R97* 0.98 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_EF_HAND_1,HMMPfam_ig" - no_errors NAV1 89796 hgsc.bcm.edu 36 1 200018497 200018497 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 200018497 200018497 C A SNP NAV1 NM_020443 human genbank 54_36p 1 reviewed missense c.2234 p.A745E 1 NULL "PatternScan_PPASE,superfamily_SSF52540,HMMSmart_AAA" - no_errors NAV1 89796 hgsc.bcm.edu 36 1 200046324 200046324 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 200046324 200046324 A G SNP NAV1 NM_020443 human genbank 54_36p 1 reviewed missense c.4603 p.K1535E 1 superfamily_SSF52540 "HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540" - no_errors NAV1 89796 hgsc.bcm.edu 36 1 200048286 200048286 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 200048286 200048286 G C SNP NAV1 NM_020443 human genbank 54_36p 1 reviewed missense c.5086 p.V1696L 1 HMMSmart_AAA "HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540" - no_errors NBPF1 55672 hgsc.bcm.edu 36 1 16763950 16763952 + In_Frame_Del DEL TCG TCG - novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 TCG TCG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 16763950 16763952 TCG - DEL NBPF1 ENST00000287968 human ensembl 54_36p -1 known in_frame_del c.1534_1532 p.T511in_frame_del 0.108:0.109:0.111 NULL HMMPfam_DUF1220 "(deletion:cds_exon[16763889,16764000])" no_errors NBPF1 55672 hgsc.bcm.edu 36 1 16764843 16764843 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 16764843 16764843 T C SNP NBPF1 ENST00000287968 human ensembl 54_36p -1 known missense c.1355 p.Q452R 0 HMMPfam_DUF1220 HMMPfam_DUF1220 - no_errors NBPF12 440675 hgsc.bcm.edu 36 1 144929375 144929375 + Missense_Mutation SNP C C A rs5015286 Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 144929375 144929375 C A SNP NBPF12 XM_001715810 human genbank 54_36p 1 model missense c.628 p.P210T 0 HMMPfam_DUF1220 HMMPfam_DUF1220 - no_errors NBPF12 440675 hgsc.bcm.edu 36 1 144929408 144929408 + Missense_Mutation SNP T T C rs4098124 Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 144929408 144929408 T C SNP NBPF12 XM_001715810 human genbank 54_36p 1 model missense c.661 p.Y221H 0 HMMPfam_DUF1220 HMMPfam_DUF1220 - no_errors NBPF14 25832 hgsc.bcm.edu 36 1 146476133 146476133 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 146476133 146476133 C T SNP NBPF14 NM_015383 human genbank 54_36p -1 predicted missense c.1798 p.G600R 0 HMMPfam_DUF1220 HMMPfam_DUF1220 - no_errors NBPF3 84224 hgsc.bcm.edu 36 1 21680843 21680843 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 21680843 21680843 G A SNP NBPF3 NM_032264 human genbank 54_36p 1 validated missense c.1600 p.V534M 0 HMMPfam_DUF1220 HMMPfam_DUF1220 - no_errors NBPF7 343505 hgsc.bcm.edu 36 1 120183350 120183350 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 120183350 120183350 T A SNP NBPF7 NM_001047980 human genbank 54_36p -1 predicted missense c.818 p.D273V 0 NULL HMMPfam_DUF1220 - no_errors NES 10763 hgsc.bcm.edu 36 1 154908577 154908577 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 154908577 154908577 T C SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.2027 p.E676G 0.01 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors NFASC 23114 hgsc.bcm.edu 36 1 203206450 203206450 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 203206450 203206450 A T SNP NFASC NM_015090 human genbank 54_36p 1 validated missense c.1120 p.N374Y 1 "HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726" "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors NOTCH2 4853 hgsc.bcm.edu 36 1 120262689 120262689 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 120262689 120262689 C T SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed missense c.5792 p.R1931H 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" ############################################################################################################################################################################################################################################################### - no_errors NOTCH2 4853 hgsc.bcm.edu 36 1 120269944 120269944 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 120269944 120269944 C A SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed missense c.4018 p.A1340S 0 "HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors NOTCH2 4853 hgsc.bcm.edu 36 1 120294980 120294980 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 120294980 120294980 T C SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed missense c.2369 p.Y790C 0.05 "HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors NPR1 4881 hgsc.bcm.edu 36 1 151924921 151924921 + Missense_Mutation SNP G G A rs61757359 Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 151924921 151924921 G A SNP NPR1 NM_000906 human genbank 54_36p 1 validated missense c.1621 p.G541S 1 "HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors NR1I3 9970 hgsc.bcm.edu 36 1 159469286 159469286 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 159469286 159469286 G T SNP NR1I3 NM_001077482 human genbank 54_36p -1 reviewed missense c.483 p.F161L 0.73 superfamily_Str_ncl_receptor "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors NTRK1 4914 hgsc.bcm.edu 36 1 155118005 155118005 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 155118005 155118005 C G SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed missense c.2338 p.R780G 0.16 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors NUF2 83540 hgsc.bcm.edu 36 1 161576840 161576840 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 161576840 161576840 G C SNP NUF2 NM_031423 human genbank 54_36p 1 reviewed missense c.669 p.L223F 1 NULL HMMPfam_Nuf2 - no_errors NVL 4931 hgsc.bcm.edu 36 1 222481965 222481965 + Missense_Mutation SNP A A G rs41271483 Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 222481965 222481965 A G SNP NVL NM_002533 human genbank 54_36p -1 validated missense c.2557 p.S853P 0.16 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors OLFM3 118427 hgsc.bcm.edu 36 1 102075049 102075049 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 102075049 102075049 T A SNP OLFM3 NM_058170 human genbank 54_36p -1 validated missense c.190 p.R64W 1 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors OR2B11 127623 hgsc.bcm.edu 36 1 245681884 245681884 + Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 245681884 245681884 G - DEL OR2B11 NM_001004492 human genbank 54_36p -1 provisional frame_shift_del c.24 p.L9fs 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[245680954,245681907])" no_errors OR2T3 343173 hgsc.bcm.edu 36 1 246703816 246703817 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 246703816 246703817 - T INS OR2T3 NM_001005495 human genbank 54_36p 1 provisional frame_shift_ins c.542_543 p.C184fs 0.000:0.000 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T34 127068 hgsc.bcm.edu 36 1 246804218 246804218 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 246804218 246804218 A G SNP OR2T34 NM_001001821 human genbank 54_36p -1 provisional missense c.464 p.V155A 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PAFAH2 5051 hgsc.bcm.edu 36 1 26171773 26171773 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 26171773 26171773 C T SNP PAFAH2 NM_000437 human genbank 54_36p -1 reviewed missense c.947 p.S316N 1 "HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases" "HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases" - no_errors PAPPA2 60676 hgsc.bcm.edu 36 1 174942195 174942195 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 174942195 174942195 G T SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.3443 p.G1148V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PAPPA2 60676 hgsc.bcm.edu 36 1 175025638 175025638 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 175025638 175025638 G A SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.4786 p.E1596K 0.96 "HMMSmart_SM00032,superfamily_Complement control module/SCR domain" ############################################################################################################################################################################################################################################################### - no_errors PARP1 142 hgsc.bcm.edu 36 1 224631528 224631528 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 224631528 224631528 C T SNP PARP1 NM_001618 human genbank 54_36p -1 reviewed missense c.1845 p.M615I 1 "HMMPfam_WGR,HMMSmart_SM00773" ############################################################################################################################################################################################################################################################### - no_errors PARS2 25973 hgsc.bcm.edu 36 1 54996505 54996505 + Silent SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 54996505 54996505 C T SNP PARS2 NM_152268 human genbank 54_36p -1 provisional silent c.918 p.E306 1 superfamily_Class II aaRS and biotin synthetases "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors PDE4DIP 9659 hgsc.bcm.edu 36 1 143577954 143577954 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 143577954 143577954 C G SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated missense c.5645 p.G1882A 0 NULL HMMPfam_Microtub_assoc - no_errors PDE4DIP 9659 hgsc.bcm.edu 36 1 143617840 143617840 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 143617840 143617840 C A SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated missense c.2374 p.V792L 1 NULL HMMPfam_Microtub_assoc - no_errors PDE4DIP 9659 hgsc.bcm.edu 36 1 143623633 143623633 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 143623633 143623633 C G SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated missense c.1999 p.V667L 1 NULL HMMPfam_Microtub_assoc - no_errors PHACTR4 65979 hgsc.bcm.edu 36 1 28658317 28658317 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 28658317 28658317 A - DEL PHACTR4 NM_023923 human genbank 54_36p 1 reviewed frame_shift_del c.181 p.S64fs 1 NULL "HMMSmart_RPEL,HMMPfam_RPEL" "(deletion:cds_exon[28658183,28658356])" no_errors PIGK 10026 hgsc.bcm.edu 36 1 77399927 77399927 + Silent SNP T T G novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 77399927 77399927 T G SNP PIGK NM_005482 human genbank 54_36p -1 reviewed silent c.642 p.R214 1 HMMPfam_Peptidase_C13 HMMPfam_Peptidase_C13 - no_errors PIGM 93183 hgsc.bcm.edu 36 1 158267443 158267443 + Silent SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 158267443 158267443 C A SNP PIGM NM_145167 human genbank 54_36p -1 reviewed silent c.711 p.T237 0.01 HMMPfam_Mannosyl_trans HMMPfam_Mannosyl_trans - no_errors PKP1 5317 hgsc.bcm.edu 36 1 199553496 199553496 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 199553496 199553496 A T SNP PKP1 NM_000299 human genbank 54_36p 1 reviewed missense c.1020 p.R340S 1 "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors PKP1 5317 hgsc.bcm.edu 36 1 199557862 199557862 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 199557862 199557862 G A SNP PKP1 NM_000299 human genbank 54_36p 1 reviewed missense c.1544 p.S515N 1 superfamily_ARM repeat "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors POU2F1 5451 hgsc.bcm.edu 36 1 165648050 165648050 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 165648050 165648050 G - DEL POU2F1 NM_002697 human genbank 54_36p 1 provisional frame_shift_del c.1717 p.A573fs 1 NULL "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "(deletion:cds_exon[165647820,165648165])" no_errors PPFIA4 8497 hgsc.bcm.edu 36 1 201296733 201296733 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 201296733 201296733 G A SNP PPFIA4 NM_015053 human genbank 54_36p 1 validated missense c.1279 p.V427I 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPT1 5538 hgsc.bcm.edu 36 1 40318657 40318657 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C T T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 40318657 40318657 C T SNP PPT1 NM_000310 human genbank 54_36p -1 reviewed missense c.626 p.R209Q 1 "HMMPfam_Palm_thioest,superfamily_alpha/beta-Hydrolases" "HMMPfam_Palm_thioest,superfamily_alpha/beta-Hydrolases" - no_errors PRAMEF12 390999 hgsc.bcm.edu 36 1 12759909 12759909 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 12759909 12759909 G T SNP PRAMEF12 NM_001080830 human genbank 54_36p 1 provisional missense c.1032 p.E344D 0.44 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF3 401940 hgsc.bcm.edu 36 1 13203354 13203354 + Silent SNP G G C rs1320957 Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 13203354 13203354 G C SNP PRAMEF3 NM_001013692 human genbank 54_36p -1 validated silent c.513 p.V171 0.01 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRDM2 7799 hgsc.bcm.edu 36 1 13978981 13978982 + In_Frame_Ins INS - - CTC rs2308040 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 13978981 13978982 - CTC INS PRDM2 NM_012231 human genbank 54_36p 1 reviewed in_frame_ins c.2104_2105 p.704in_frame_insP 0.047:0.150 NULL "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PRDM2 7799 hgsc.bcm.edu 36 1 13979571 13979571 + Silent SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 13979571 13979571 C T SNP PRDM2 NM_012231 human genbank 54_36p 1 reviewed silent c.2694 p.G898 0.03 NULL "HMMPfam_SET,HMMSmart_SM00317,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_SET domain" - no_errors PRKCZ 5590 hgsc.bcm.edu 36 1 2072153 2072153 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 2072153 2072153 A C SNP PRKCZ NM_002744 human genbank 54_36p 1 reviewed missense c.752 p.D251A 1 superfamily_Kinase_like ############################################################################################################################################################################################################################################################### - no_errors PRKCZ 5590 hgsc.bcm.edu 36 1 2072179 2072179 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 2072179 2072179 C T SNP PRKCZ NM_002744 human genbank 54_36p 1 reviewed missense c.778 p.R260C 1 "HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PRRX1 5396 hgsc.bcm.edu 36 1 168962105 168962105 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 168962105 168962105 G A SNP PRRX1 NM_022716 human genbank 54_36p 1 reviewed missense c.538 p.V180I 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors PSMB4 5692 hgsc.bcm.edu 36 1 149639671 149639671 + Silent SNP C C G novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 149639671 149639671 C G SNP PSMB4 NM_002796 human genbank 54_36p 1 reviewed silent c.477 p.G159 1 "superfamily_SSF56235,HMMPfam_Proteasome" "superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors PTGFRN 5738 hgsc.bcm.edu 36 1 117311463 117311463 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 117311463 117311463 T C SNP PTGFRN NM_020440 human genbank 54_36p 1 provisional missense c.2047 p.F683L 1 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_ig" - no_errors PTPRC 5788 hgsc.bcm.edu 36 1 196952466 196952470 + Frame_Shift_Del DEL ATCAA ATCAA - novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 ATCAA ATCAA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 196952466 196952470 ATCAA - DEL PTPRC NM_002838 human genbank 54_36p 1 reviewed frame_shift_del c.1318_1322 p.K441fs 0.000:0.000:0.000:0.000:0.000 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" "(deletion:cds_exon[196952434,196952592])" no_errors PUM1 9698 hgsc.bcm.edu 36 1 31240608 31240608 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 31240608 31240608 T C SNP PUM1 NM_001020658 human genbank 54_36p -1 reviewed missense c.767 p.K256R 1 NULL "superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025" - no_errors RAB3B 5865 hgsc.bcm.edu 36 1 52215215 52215215 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 52215215 52215215 C G SNP RAB3B NM_002867 human genbank 54_36p -1 provisional missense c.163 p.V55L 0.99 "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" - no_errors RAD54L 8438 hgsc.bcm.edu 36 1 46488323 46488323 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 46488323 46488323 G A SNP RAD54L NM_003579 human genbank 54_36p 1 reviewed missense c.155 p.R52Q 1 NULL "HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors RASSF5 83593 hgsc.bcm.edu 36 1 204826798 204826798 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 204826798 204826798 C A SNP RASSF5 NM_182664 human genbank 54_36p 1 reviewed missense c.1006 p.P336T 1 NULL "superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_RA" - no_errors RGS16 6004 hgsc.bcm.edu 36 1 180837829 180837829 + Silent SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 180837829 180837829 G A SNP RGS16 NM_002928 human genbank 54_36p -1 reviewed silent c.282 p.F94 1 "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors RGS7 6000 hgsc.bcm.edu 36 1 239328667 239328667 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 239328667 239328667 G A SNP RGS7 NM_002924 human genbank 54_36p -1 validated missense c.97 p.R33W 1 superfamily_SSF46785 "superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors RHBG 57127 hgsc.bcm.edu 36 1 154620972 154620972 + Frame_Shift_Del DEL C C - rs11303415 Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 154620972 154620972 C - DEL RHBG NM_020407 human genbank 54_36p 1 reviewed frame_shift_del c.1265 p.R425fs 0.71 "HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)" "HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)" "(deletion:cds_exon[154620942,154621016])" no_errors RNF220 55182 hgsc.bcm.edu 36 1 44650948 44650948 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 44650948 44650948 G T SNP RNF220 NM_018150 human genbank 54_36p 1 validated missense c.592 p.A198S 1 NULL superfamily_RING/U-box - no_errors ROR1 4919 hgsc.bcm.edu 36 1 64287993 64287993 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 64287993 64287993 C T SNP ROR1 NM_005012 human genbank 54_36p 1 validated missense c.206 p.T69M 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409" ############################################################################################################################################################################################################################################################### - no_errors ROR1 4919 hgsc.bcm.edu 36 1 64380784 64380784 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 64380784 64380784 C G SNP ROR1 NM_005012 human genbank 54_36p 1 validated missense c.1037 p.T346S 1 "HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like" ############################################################################################################################################################################################################################################################### - no_errors SIKE1 80143 hgsc.bcm.edu 36 1 115124580 115124580 + Splice_Site SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 115124580 115124580 C A SNP SIKE NM_001102396 human genbank 54_36p -1 validated splice_site c.171+1 e1+1 0.17 - - - no_errors RPS6KC1 26750 hgsc.bcm.edu 36 1 211470508 211470508 + Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 211470508 211470508 A T SNP RPS6KC1 NM_012424 human genbank 54_36p 1 validated nonsense c.1090 p.K364* 1 superfamily_Protein kinase-like (PK-like) "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" - no_errors RUSC1 23623 hgsc.bcm.edu 36 1 153562021 153562021 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 153562021 153562021 T G SNP RUSC1 NM_001105203 human genbank 54_36p 1 validated missense c.1748 p.V583G 0.98 HMMPfam_RUN "HMMPfam_RUN,HMMSmart_SM00593,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors RXFP4 339403 hgsc.bcm.edu 36 1 154178638 154178645 + Frame_Shift_Del DEL GTGACGGT GTGACGGT - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 GTGACGGT GTGACGGT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 154178638 154178645 GTGACGGT - DEL RXFP4 NM_181885 human genbank 54_36p 1 validated frame_shift_del c.514_521 p.V172fs 0.970:0.970:0.865:0.852:0.852:0.004:0.004:0.861 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" "(deletion:cds_exon[154178125,154179249])" no_errors RYR2 6262 hgsc.bcm.edu 36 1 236014831 236014831 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 236014831 236014831 A G SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.13196 p.N4399S 0.91 HMMPfam_RR_TM4-6 "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors S100A10 6281 hgsc.bcm.edu 36 1 150222273 150222273 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 150222273 150222273 C T SNP S100A10 NM_002966 human genbank 54_36p -1 reviewed missense c.284 p.G95E 0.95 NULL "superfamily_EF-hand,HMMPfam_S_100,PatternScan_S100_CABP" - no_errors S100A7L2 645922 hgsc.bcm.edu 36 1 151677364 151677364 + Silent SNP T T C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 151677364 151677364 T C SNP S100A7L2 NM_001045479 human genbank 54_36p -1 validated silent c.66 p.G22 0 superfamily_SSF47473 "PatternScan_S100_CABP,superfamily_SSF47473,PatternScan_EF_HAND_1" - no_errors SAMD11 148398 hgsc.bcm.edu 36 1 864328 864329 + Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 864328 864329 - C INS SAMD11 NM_152486 human genbank 54_36p 1 validated frame_shift_ins c.476_477 p.D160fs 1.000:0.997 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors SCCPDH 51097 hgsc.bcm.edu 36 1 244956825 244956825 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 244956825 244956825 A G SNP SCCPDH NM_016002 human genbank 54_36p 1 validated missense c.199 p.T67A 1 "superfamily_NAD(P)-bd,HMMPfam_Saccharop_dh" "superfamily_NAD(P)-bd,HMMPfam_Saccharop_dh" - no_errors SELP 6403 hgsc.bcm.edu 36 1 167848917 167848917 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 167848917 167848917 G T SNP SELP NM_003005 human genbank 54_36p -1 reviewed missense c.649 p.L217M 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors SELP 6403 hgsc.bcm.edu 36 1 167849547 167849548 + Frame_Shift_Del DEL GG GG - novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 GG GG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 167849547 167849548 GG - DEL SELP NM_003005 human genbank 54_36p -1 reviewed frame_shift_del c.490_489 p.C163fs 0.016:0.311 "HMMPfam_EGF,superfamily_EGF/Laminin" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin" "(deletion:cds_exon[167849448,167849555])" no_errors SEMA4A 64218 hgsc.bcm.edu 36 1 154397868 154397868 + Silent SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 154397868 154397868 C T SNP SEMA4A NM_022367 human genbank 54_36p 1 provisional silent c.918 p.H306 1 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold" - no_errors SEMA4A 64218 hgsc.bcm.edu 36 1 154397905 154397905 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 154397905 154397905 C T SNP SEMA4A NM_022367 human genbank 54_36p 1 provisional missense c.955 p.H319Y 0 "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema" "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold" - no_errors SERTAD4 56256 hgsc.bcm.edu 36 1 208479473 208479473 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 208479473 208479473 G A SNP SERTAD4 NM_019605 human genbank 54_36p 1 validated missense c.188 p.R63K 1 NULL HMMPfam_SERTA - no_errors SESN2 83667 hgsc.bcm.edu 36 1 28471771 28471771 + Silent SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 28471771 28471771 C T SNP SESN2 NM_031459 human genbank 54_36p 1 reviewed silent c.630 p.F210 0.95 HMMPfam_PA26 "HMMPfam_PA26,superfamily_SSF69118" - no_errors SETDB1 9869 hgsc.bcm.edu 36 1 149183055 149183055 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 149183055 149183055 A G SNP SETDB1 NM_012432 human genbank 54_36p 1 reviewed missense c.911 p.Y304C 1 HMMSmart_TUDOR "HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors SF3B4 10262 hgsc.bcm.edu 36 1 148162383 148162384 + Frame_Shift_Ins INS - - G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 148162383 148162384 - G INS SF3B4 NM_005850 human genbank 54_36p -1 reviewed frame_shift_ins c.1061_1060 p.R354fs 1.000:1.000 NULL "HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1" - no_errors SIPA1L2 57568 hgsc.bcm.edu 36 1 230647919 230647919 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 230647919 230647919 C T SNP SIPA1L2 NM_020808 human genbank 54_36p -1 validated missense c.3332 p.R1111Q 1 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors SLAMF1 6504 hgsc.bcm.edu 36 1 158883331 158883331 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 158883331 158883331 G A SNP SLAMF1 NM_003037 human genbank 54_36p -1 validated missense c.29 p.T10I 0 HMMPfam_SLAM HMMPfam_SLAM - no_errors SLAMF6 114836 hgsc.bcm.edu 36 1 158727778 158727778 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 158727778 158727778 G T SNP SLAMF6 NM_052931 human genbank 54_36p -1 reviewed missense c.407 p.T136N 0 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors SLAMF7 57823 hgsc.bcm.edu 36 1 158984742 158984742 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 158984742 158984742 C A SNP SLAMF7 NM_021181 human genbank 54_36p 1 provisional missense c.190 p.Q64K 0 "HMMPfam_V-set,superfamily_Immunoglobulin" "HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors SLC25A44 9673 hgsc.bcm.edu 36 1 154444402 154444402 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 154444402 154444402 A T SNP SLC25A44 NM_014655 human genbank 54_36p 1 validated missense c.727 p.M243L 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors SLC2A1 6513 hgsc.bcm.edu 36 1 43165445 43165445 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 43165445 43165445 A G SNP SLC2A1 NM_006516 human genbank 54_36p -1 reviewed missense c.1333 p.F445L 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC44A5 204962 hgsc.bcm.edu 36 1 75457529 75457529 + Splice_Site SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 75457529 75457529 C G SNP SLC44A5 NM_152697 human genbank 54_36p -1 validated splice_site c.1266+1 e15+1 1 - - - no_errors SMPDL3B 27293 hgsc.bcm.edu 36 1 28144398 28144398 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 28144398 28144398 G A SNP SMPDL3B NM_014474 human genbank 54_36p 1 validated missense c.130 p.V44M 0.97 "superfamily_Metallo-dependent phosphatases,HMMPfam_Metallophos" "superfamily_Metallo-dependent phosphatases,HMMPfam_Metallophos" - no_errors SMPDL3B 27293 hgsc.bcm.edu 36 1 28155060 28155060 + Silent SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 28155060 28155060 C T SNP SMPDL3B NM_014474 human genbank 54_36p 1 validated silent c.885 p.S295 0.96 superfamily_Metallo-dependent phosphatases "HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases" - no_errors SMYD2 56950 hgsc.bcm.edu 36 1 212558104 212558104 + Silent SNP A A G novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 212558104 212558104 A G SNP SMYD2 NM_020197 human genbank 54_36p 1 validated silent c.408 p.S136 0.99 "HMMSmart_SET,superfamily_SSF82199" "HMMSmart_SET,superfamily_SSF82199,PatternScan_ZF_MYND_1,HMMPfam_zf-MYND" - no_errors SNX27 81609 hgsc.bcm.edu 36 1 149897409 149897409 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 149897409 149897409 C G SNP SNX27 NM_030918 human genbank 54_36p 1 reviewed missense c.618 p.N206K 1 "superfamily_PX,HMMSmart_PX,HMMPfam_PX" "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PX,HMMSmart_PX,HMMPfam_PX,HMMPfam_RA" - no_errors SNX7 51375 hgsc.bcm.edu 36 1 98933689 98933689 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 98933689 98933689 C T SNP SNX7 NM_015976 human genbank 54_36p 1 reviewed missense c.475 p.P159S 1 NULL "superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX" - no_errors SORT1 6272 hgsc.bcm.edu 36 1 109658889 109658889 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 109658889 109658889 G C SNP SORT1 NM_002959 human genbank 54_36p -1 reviewed missense c.2285 p.A762G 1 NULL "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,PatternScan_HEMOCYANIN_2" - no_errors SOX13 9580 hgsc.bcm.edu 36 1 202360506 202360506 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 202360506 202360506 C G SNP SOX13 NM_005686 human genbank 54_36p 1 reviewed missense c.1490 p.P497R 1 superfamily_HMG-box "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors SPAG17 200162 hgsc.bcm.edu 36 1 118445922 118445922 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 118445922 118445922 G A SNP SPAG17 NM_206996 human genbank 54_36p -1 validated missense c.598 p.R200W 0.14 NULL NULL - no_errors SPATA21 374955 hgsc.bcm.edu 36 1 16608712 16608712 + Silent SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 16608712 16608712 G A SNP SPATA21 NM_198546 human genbank 54_36p -1 provisional silent c.558 p.S186 0 NULL "superfamily_SSF47473,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors SPEN 23013 hgsc.bcm.edu 36 1 16127227 16127227 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 16127227 16127227 T G SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.1905 p.S635R 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC" - no_errors SPRR1B 6699 hgsc.bcm.edu 36 1 151271550 151271550 + Silent SNP C C T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 151271550 151271550 C T SNP SPRR1B NM_003125 human genbank 54_36p 1 provisional silent c.105 p.P35 0.01 HMMPfam_Cornifin HMMPfam_Cornifin - no_errors ST6GALNAC3 256435 hgsc.bcm.edu 36 1 76650418 76650418 + Silent SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 76650418 76650418 A G SNP ST6GALNAC3 NM_152996 human genbank 54_36p 1 provisional silent c.351 p.E117 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors SYT6 148281 hgsc.bcm.edu 36 1 114443306 114443306 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 114443306 114443306 T A SNP SYT6 NM_205848 human genbank 54_36p -1 validated missense c.1042 p.I348F 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYT6 148281 hgsc.bcm.edu 36 1 114481862 114481862 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 114481862 114481862 G A SNP SYT6 NM_205848 human genbank 54_36p -1 validated silent c.594 p.T198 0.98 "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors TAF12 6883 hgsc.bcm.edu 36 1 28804553 28804553 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 28804553 28804553 T C SNP TAF12 NM_005644 human genbank 54_36p -1 reviewed missense c.368 p.Q123R 1 "superfamily_Histone-fold,HMMPfam_TFIID_20kDa" "superfamily_Histone-fold,HMMPfam_TFIID_20kDa" - no_errors TAF5L 27097 hgsc.bcm.edu 36 1 227804776 227804776 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 227804776 227804776 G A SNP TAF5L NM_014409 human genbank 54_36p -1 reviewed missense c.761 p.P254L 1 superfamily_WD40 repeat-like "HMMPfam_TFIID_90kDa,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors TGFBR3 7049 hgsc.bcm.edu 36 1 91996862 91996862 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 91996862 91996862 G T SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated missense c.280 p.H94N 0.99 NULL "HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1" - no_errors THBS3 7059 hgsc.bcm.edu 36 1 153434495 153434495 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 153434495 153434495 C G SNP THBS3 NM_007112 human genbank 54_36p -1 reviewed missense c.2215 p.D739H 1 superfamily_Concanavalin A-like lectins/glucanases "HMMSmart_SM00210,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_EGF_2,superfamily_TSP type-3 repeat,HMMPfam_TSP_3,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_TSP_C" - no_errors THBS3 7059 hgsc.bcm.edu 36 1 153441286 153441286 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 153441286 153441286 C G SNP THBS3 NM_007112 human genbank 54_36p -1 reviewed missense c.630 p.E210D 0.97 NULL "HMMSmart_SM00179,HMMSmart_SM00210,HMMPfam_TSP_3,HMMSmart_SM00181,HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_TSP type-3 repeat,superfamily_EGF/Laminin" - no_errors TIE1 7075 hgsc.bcm.edu 36 1 43559542 43559542 + Silent SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 43559542 43559542 C A SNP TIE1 NM_005424 human genbank 54_36p 1 provisional silent c.3123 p.V1041 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" ############################################################################################################################################################################################################################################################### - no_errors TIPRL 261726 hgsc.bcm.edu 36 1 166427328 166427328 + Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 166427328 166427328 A - DEL TIPRL NM_152902 human genbank 54_36p 1 validated frame_shift_del c.482 p.H161fs 1 HMMPfam_TIP41 HMMPfam_TIP41 "(deletion:cds_exon[166427231,166427362])" no_errors TIPRL 261726 hgsc.bcm.edu 36 1 166432504 166432504 + Silent SNP G G A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 166432504 166432504 G A SNP TIPRL NM_152902 human genbank 54_36p 1 validated silent c.612 p.E204 1 HMMPfam_TIP41 HMMPfam_TIP41 - no_errors TMEM48 55706 hgsc.bcm.edu 36 1 54035264 54035264 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 54035264 54035264 A T SNP TMEM48 NM_018087 human genbank 54_36p -1 provisional missense c.1364 p.V455E 0.61 HMMPfam_Ndc1_Nup HMMPfam_Ndc1_Nup - no_errors TNNI3K 51086 hgsc.bcm.edu 36 1 74677791 74677791 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 74677791 74677791 C T SNP TNNI3K NM_015978 human genbank 54_36p 1 validated silent c.1908 p.F636 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP" - no_errors TNNI3K 51086 hgsc.bcm.edu 36 1 74701769 74701769 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 74701769 74701769 A T SNP TNNI3K NM_015978 human genbank 54_36p 1 validated missense c.2068 p.I690F 1 "HMMPfam_Pkinase_Tyr,superfamily_Kinase_like" "HMMPfam_Pkinase_Tyr,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP" - no_errors TNR 7143 hgsc.bcm.edu 36 1 173639206 173639206 + Silent SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 173639206 173639206 G A SNP TNR NM_003285 human genbank 54_36p -1 validated silent c.669 p.S223 0.96 "HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,PatternScan_EGF_1" "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" - no_errors CELF3 11189 hgsc.bcm.edu 36 1 149948134 149948134 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 149948134 149948134 C T SNP TNRC4 NM_007185 human genbank 54_36p -1 reviewed silent c.450 p.A150 0.75 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" - no_errors TOR1AIP1 26092 hgsc.bcm.edu 36 1 178153307 178153307 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 178153307 178153307 C A SNP TOR1AIP1 NM_015602 human genbank 54_36p 1 validated missense c.1062 p.F354L 0 HMMPfam_LAP1C HMMPfam_LAP1C - no_errors TRAF5 7188 hgsc.bcm.edu 36 1 209599931 209599931 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 209599931 209599931 C G SNP TRAF5 NM_001033910 human genbank 54_36p 1 reviewed missense c.433 p.R145G 0.56 "superfamily_TRAF domain-like,HMMPfam_zf-TRAF" "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,HMMPfam_zf-TRAF,HMMSmart_SM00061,HMMPfam_MATH" - no_errors TRIM33 51592 hgsc.bcm.edu 36 1 114768789 114768789 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 114768789 114768789 G A SNP TRIM33 NM_015906 human genbank 54_36p -1 reviewed missense c.1807 p.P603S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors TRIM58 25893 hgsc.bcm.edu 36 1 246106056 246106056 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 246106056 246106056 C A SNP TRIM58 NM_015431 human genbank 54_36p 1 validated missense c.1103 p.P368Q 0 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors TRIM58 25893 hgsc.bcm.edu 36 1 246106397 246106397 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 246106397 246106397 A G SNP TRIM58 NM_015431 human genbank 54_36p 1 validated missense c.1444 p.R482G 0.01 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,HMMSmart_PRY,PatternScan_ZF_RING_1,HMMSmart_SPRY,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors TRNAU1AP 54952 hgsc.bcm.edu 36 1 28770319 28770319 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 28770319 28770319 G C SNP TRNAU1AP NM_017846 human genbank 54_36p 1 validated missense c.575 p.S192T 1 superfamily_RNA-binding domain RBD "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" - no_errors TTC24 164118 hgsc.bcm.edu 36 1 154822140 154822140 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 154822140 154822140 C T SNP TTC24 NM_001105669 human genbank 54_36p 1 validated missense c.628 p.P210S 0.01 NULL "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors TTF2 8458 hgsc.bcm.edu 36 1 117436944 117436944 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 117436944 117436944 G C SNP TTF2 NM_003594 human genbank 54_36p 1 reviewed missense c.2874 p.L958F 1 NULL "HMMPfam_zf-GRF,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors TXLNA 200081 hgsc.bcm.edu 36 1 32430561 32430561 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 32430561 32430561 G T SNP TXLNA NM_175852 human genbank 54_36p 1 validated missense c.1026 p.Q342H 1 HMMPfam_Taxilin HMMPfam_Taxilin - no_errors TXNDC12 51060 hgsc.bcm.edu 36 1 52259248 52259248 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 52259248 52259248 T A SNP TXNDC12 NM_015913 human genbank 54_36p -1 provisional missense c.464 p.Q155L 1 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,PatternScan_THIOREDOXIN_1" - no_errors TYW3 127253 hgsc.bcm.edu 36 1 74977011 74977011 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 74977011 74977011 C G SNP TYW3 NM_138467 human genbank 54_36p 1 provisional missense c.305 p.P102R 1 "HMMPfam_TYW3,superfamily_DUF207" "HMMPfam_TYW3,superfamily_DUF207" - no_errors UBE4B 10277 hgsc.bcm.edu 36 1 10153945 10153945 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 10153945 10153945 C T SNP UBE4B NM_001105562 human genbank 54_36p 1 reviewed missense c.3496 p.R1166W 1 HMMPfam_Ufd2P_core "HMMPfam_Ufd2P_core,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00504" - no_errors UBR4 23352 hgsc.bcm.edu 36 1 19326770 19326770 + Silent SNP T T G novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 19326770 19326770 T G SNP UBR4 NM_020765 human genbank 54_36p -1 validated silent c.9162 p.V3054 0.94 NULL "superfamily_ARM repeat,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-UBR,HMMSmart_SM00396,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 hgsc.bcm.edu 36 1 19391336 19391336 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 19391336 19391336 G A SNP UBR4 NM_020765 human genbank 54_36p -1 validated nonsense c.1327 p.R443* 1 NULL "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors USP24 23358 hgsc.bcm.edu 36 1 55372611 55372611 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 55372611 55372611 G C SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.2785 p.L929V 1 NULL "superfamily_Ubiquitin-like,PatternScan_SUGAR_TRANSPORT_1,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP24 23358 hgsc.bcm.edu 36 1 55385220 55385220 + Silent SNP A A C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 55385220 55385220 A C SNP USP24 NM_015306 human genbank 54_36p -1 validated silent c.1740 p.T580 0.99 NULL "HMMPfam_UCH,PatternScan_SUGAR_TRANSPORT_1,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like" - no_errors VANGL2 57216 hgsc.bcm.edu 36 1 158656913 158656913 + Missense_Mutation SNP G G A rs61744131 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 158656913 158656913 G A SNP VANGL2 NM_020335 human genbank 54_36p 1 validated missense c.889 p.V297I 1 HMMPfam_Strabismus HMMPfam_Strabismus - no_errors VAV3 10451 hgsc.bcm.edu 36 1 108099623 108099623 + Silent SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 108099623 108099623 A G SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed silent c.1122 p.D374 1 NULL ############################################################################################################################################################################################################################################################### - no_errors VAV3 10451 hgsc.bcm.edu 36 1 108101405 108101405 + Splice_Site SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 108101405 108101405 C G SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed splice_site c.1086+1 e11+1 1 - - - no_errors VN1R5 317705 hgsc.bcm.edu 36 1 245486650 245486650 + Silent SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 245486650 245486650 C T SNP VN1R5 NM_173858 human genbank 54_36p 1 validated silent c.654 p.H218 0 NULL HMMPfam_V1R - pseudogene VPS13D 55187 hgsc.bcm.edu 36 1 12236389 12236389 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 12236389 12236389 G T SNP VPS13D NM_015378 human genbank 54_36p 1 reviewed missense c.588 p.K196N 1 NULL "superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_DUF1162" - no_errors WDR47 22911 hgsc.bcm.edu 36 1 109339758 109339758 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 109339758 109339758 G C SNP WDR47 NM_014969 human genbank 54_36p -1 validated missense c.1661 p.P554R 1 NULL "HMMSmart_LisH,HMMSmart_CTLH,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WDR63 126820 hgsc.bcm.edu 36 1 85336824 85336824 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 85336824 85336824 G C SNP WDR63 NM_145172 human genbank 54_36p 1 validated missense c.1374 p.E458D 0.02 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WDR78 79819 hgsc.bcm.edu 36 1 67065207 67065207 + Missense_Mutation SNP C C A novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 67065207 67065207 C A SNP WDR78 NM_024763 human genbank 54_36p -1 validated missense c.2223 p.L741F 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors YIPF1 54432 hgsc.bcm.edu 36 1 54104629 54104629 + Silent SNP G G A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 54104629 54104629 G A SNP YIPF1 NM_018982 human genbank 54_36p -1 provisional silent c.663 p.I221 1 HMMPfam_Yip1 HMMPfam_Yip1 - no_errors YY1AP1 55249 hgsc.bcm.edu 36 1 153896254 153896254 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 153896254 153896254 C G SNP YY1AP1 NM_139118 human genbank 54_36p -1 reviewed missense c.2209 p.G737R 0.01 NULL NULL - no_errors ZBTB40 9923 hgsc.bcm.edu 36 1 22711050 22711050 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 22711050 22711050 T A SNP ZBTB40 NM_001083621 human genbank 54_36p 1 validated missense c.2297 p.V766E 1 HMMSmart_SM00355 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZCCHC11 23318 hgsc.bcm.edu 36 1 52713588 52713588 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 52713588 52713588 T C SNP ZCCHC11 NM_001009881 human genbank 54_36p -1 validated missense c.2231 p.N744S 0.42 NULL "PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2" - no_errors ZCCHC17 51538 hgsc.bcm.edu 36 1 31584404 31584404 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 1 31584404 31584404 G C SNP ZCCHC17 NM_016505 human genbank 54_36p 1 provisional missense c.239 p.R80T 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_S1,HMMSmart_SM00316" "superfamily_Nucleic acid-binding proteins,HMMPfam_S1,HMMSmart_SM00316" - no_errors ZFYVE9 9372 hgsc.bcm.edu 36 1 52571104 52571104 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 52571104 52571104 A T SNP ZFYVE9 NM_004799 human genbank 54_36p 1 reviewed missense c.3515 p.H1172L 1 NULL "HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors ZMYM4 9202 hgsc.bcm.edu 36 1 35628234 35628234 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 35628234 35628234 G C SNP ZMYM4 NM_005095 human genbank 54_36p 1 validated missense c.2535 p.L845F 1 "HMMPfam_zf-FCS,HMMSmart_SM00746" "HMMPfam_zf-FCS,HMMSmart_SM00746,PatternScan_GLYCO_HORMONE_BETA_1" - no_errors ZMYND12 84217 hgsc.bcm.edu 36 1 42694165 42694165 + Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 42694165 42694165 A - DEL ZMYND12 NM_032257 human genbank 54_36p -1 provisional frame_shift_del c.91 p.C31fs 1 "PatternScan_ZF_MYND_1,HMMPfam_zf-MYND" "PatternScan_ZF_MYND_1,HMMPfam_zf-MYND,superfamily_TPR-like" "(deletion:cds_exon[42694146,42694255])" no_errors ZNF238 10472 hgsc.bcm.edu 36 1 242283789 242283793 + Frame_Shift_Del DEL TTTTC TTTTC - novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 TTTTC TTTTC TTTTC - TTTTC TTTTC Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 242283789 242283793 TTTTC - DEL ZNF238 NM_205768 human genbank 54_36p 1 validated frame_shift_del c.90_94 p.F31fs 0.963:1.000:1.000:1.000:1.000 "superfamily_BTB/POZ_fold,HMMPfam_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[242283713,242285295])" no_errors ZNF281 23528 hgsc.bcm.edu 36 1 198644306 198644306 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 198644306 198644306 T C SNP ZNF281 NM_012482 human genbank 54_36p -1 provisional missense c.1151 p.N384S 0.86 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF642 339559 hgsc.bcm.edu 36 1 40717713 40717713 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 40717713 40717713 G - DEL ZNF642 NM_198494 human genbank 54_36p 1 validated frame_shift_del c.93 p.W32fs 0.74 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[40717621,40717747])" no_errors ZNF691 51058 hgsc.bcm.edu 36 1 43090048 43090048 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 1 43090048 43090048 C G SNP ZNF691 NM_015911 human genbank 54_36p 1 provisional missense c.832 p.Q278E 0.96 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ABCA12 26154 hgsc.bcm.edu 36 2 215622593 215622593 + Splice_Site SNP A A T novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 215622593 215622593 A T SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed splice_site c.693+2 e6+2 1 - - - no_errors ABCG8 64241 hgsc.bcm.edu 36 2 43926872 43926872 + Silent SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 43926872 43926872 C T SNP ABCG8 NM_022437 human genbank 54_36p 1 reviewed silent c.240 p.C80 0.03 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors ACTR1B 10120 hgsc.bcm.edu 36 2 97642245 97642245 + Splice_Site SNP A A G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 97642245 97642245 A G SNP ACTR1B NM_005735 human genbank 54_36p -1 reviewed splice_site c.315+2 e4+2 1 - - - no_errors ACVR1C 130399 hgsc.bcm.edu 36 2 158098773 158098773 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 158098773 158098773 C T SNP ACVR1C NM_145259 human genbank 54_36p -1 validated missense c.1385 p.R462H 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase" "superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors AFF3 3899 hgsc.bcm.edu 36 2 99989528 99989528 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 99989528 99989528 C T SNP AFF3 NM_001025108 human genbank 54_36p -1 reviewed missense c.946 p.E316K 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors AFTPH 54812 hgsc.bcm.edu 36 2 64632389 64632389 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 64632389 64632389 A G SNP AFTPH NM_203437 human genbank 54_36p 1 validated missense c.277 p.T93A 1 NULL PatternScan_EF_HAND_1 - no_errors AGBL5 60509 hgsc.bcm.edu 36 2 27129391 27129391 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 27129391 27129391 C A SNP AGBL5 NM_021831 human genbank 54_36p 1 validated missense c.61 p.H21N 0.96 NULL "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" - no_errors AGPS 8540 hgsc.bcm.edu 36 2 178072684 178072684 + Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 178072684 178072684 T A SNP AGPS NM_003659 human genbank 54_36p 1 reviewed nonsense c.1455 p.Y485* 1 "superfamily_FAD-linked oxidases C-terminal domain,HMMPfam_FAD-oxidase_C" "superfamily_FAD-binding domain,HMMPfam_FAD_binding_4,superfamily_FAD-linked oxidases C-terminal domain,HMMPfam_FAD-oxidase_C" - no_errors ALK 238 hgsc.bcm.edu 36 2 29270274 29270274 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 29270274 29270274 T A SNP ALK NM_004304 human genbank 54_36p -1 reviewed missense c.4183 p.T1395S 0.98 superfamily_Protein kinase-like (PK-like) "superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors ANKAR 150709 hgsc.bcm.edu 36 2 190316408 190316408 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 190316408 190316408 C G SNP ANKAR NM_144708 human genbank 54_36p 1 provisional missense c.3760 p.Q1254E 0.47 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors ANKRD23 200539 hgsc.bcm.edu 36 2 96871972 96871972 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 96871972 96871972 T C SNP ANKRD23 NM_144994 human genbank 54_36p -1 reviewed missense c.31 p.S11G 0.99 NULL "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors AOX1 316 hgsc.bcm.edu 36 2 201215769 201215769 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 201215769 201215769 G T SNP AOX1 NM_001159 human genbank 54_36p 1 reviewed missense c.2847 p.K949N 1 "superfamily_Molybdenum cofactor-binding domain,HMMPfam_Ald_Xan_dh_C2" ############################################################################################################################################################################################################################################################### - no_errors AOX1 316 hgsc.bcm.edu 36 2 201242694 201242694 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 201242694 201242694 A T SNP AOX1 NM_001159 human genbank 54_36p 1 reviewed missense c.3950 p.D1317V 1 superfamily_Molybdenum cofactor-binding domain ############################################################################################################################################################################################################################################################### - no_errors APLF 200558 hgsc.bcm.edu 36 2 68594309 68594309 + Silent SNP C C T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 68594309 68594309 C T SNP APLF NM_173545 human genbank 54_36p 1 validated silent c.615 p.I205 0 NULL "superfamily_SMAD_FHA,HMMPfam_zf-CCHH" - no_errors APLF 200558 hgsc.bcm.edu 36 2 68658523 68658523 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 68658523 68658523 C A SNP APLF NM_173545 human genbank 54_36p 1 validated missense c.1401 p.S467R 1 NULL "superfamily_SMAD_FHA,HMMPfam_zf-CCHH" - no_errors APOB 338 hgsc.bcm.edu 36 2 21084401 21084401 + Silent SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 21084401 21084401 G A SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.8844 p.F2948 0.01 NULL "superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081" - no_errors APOB 338 hgsc.bcm.edu 36 2 21091467 21091467 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 21091467 21091467 C T SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.3679 p.G1227S 1 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors ARHGAP25 9938 hgsc.bcm.edu 36 2 68906740 68906740 + Silent SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 68906740 68906740 C T SNP ARHGAP25 NM_001007231 human genbank 54_36p 1 validated silent c.1848 p.S616 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP25 9938 hgsc.bcm.edu 36 2 68906755 68906755 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 68906755 68906755 G T SNP ARHGAP25 NM_001007231 human genbank 54_36p 1 validated missense c.1863 p.E621D 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ARMC9 80210 hgsc.bcm.edu 36 2 231789595 231789595 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 231789595 231789595 G A SNP ARMC9 NM_025139 human genbank 54_36p 1 validated missense c.349 p.D117N 1 superfamily_ARM-type_fold "HMMSmart_LisH,superfamily_ARM-type_fold" - no_errors ASB3 51130 hgsc.bcm.edu 36 2 53810179 53810179 + Silent SNP G G A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 53810179 53810179 G A SNP ASB3 NM_016115 human genbank 54_36p -1 reviewed silent c.388 p.L130 1 "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" "HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_SOCS_box" - no_errors ASTL 431705 hgsc.bcm.edu 36 2 96164819 96164821 + In_Frame_Del DEL GCC GCC - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 GCC GCC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 96164819 96164821 GCC - DEL ASTL NM_001002036 human genbank 54_36p -1 validated in_frame_del c.241_239 p.R80in_frame_del 0.990:0.991:0.992 NULL "superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin" "(deletion:cds_exon[96164817,96164878])" no_errors ATP5G3 518 hgsc.bcm.edu 36 2 175752224 175752224 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 175752224 175752224 C G SNP ATP5G3 NM_001002258 human genbank 54_36p -1 reviewed missense c.121 p.G41R 1 NULL "superfamily_F1F0 ATP synthase subunit C,HMMPfam_ATP-synt_C,PatternScan_ATPASE_C" - no_errors ATP6V1C2 245973 hgsc.bcm.edu 36 2 10821976 10821976 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 10821976 10821976 G A SNP ATP6V1C2 NM_001039362 human genbank 54_36p 1 reviewed missense c.352 p.V118M 0.96 HMMPfam_V-ATPase_C HMMPfam_V-ATPase_C - no_errors ATP6V1C2 245973 hgsc.bcm.edu 36 2 10821976 10821976 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 10821976 10821976 G C SNP ATP6V1C2 NM_001039362 human genbank 54_36p 1 reviewed missense c.352 p.V118L 0.96 HMMPfam_V-ATPase_C HMMPfam_V-ATPase_C - no_errors BAZ2B 29994 hgsc.bcm.edu 36 2 160003066 160003066 + Silent SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 160003066 160003066 G T SNP BAZ2B NM_013450 human genbank 54_36p -1 validated silent c.1287 p.S429 1 NULL "superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BCL11A 53335 hgsc.bcm.edu 36 2 60542989 60542989 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 60542989 60542989 G A SNP BCL11A NM_022893 human genbank 54_36p -1 reviewed missense c.562 p.H188Y 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors BIRC6 57448 hgsc.bcm.edu 36 2 32546564 32546564 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 32546564 32546564 G A SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed nonsense c.5661 p.W1887* 1 NULL "superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,HMMPfam_BIR,superfamily_Galactose-binding domain-like,superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" - no_errors BIRC6 57448 hgsc.bcm.edu 36 2 32681599 32681599 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 32681599 32681599 C T SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed missense c.14015 p.T4672M 1 "HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like" "HMMPfam_UQ_con,HMMSmart_SM00212,HMMPfam_BIR,HMMSmart_SM00238,superfamily_Galactose-binding domain-like,superfamily_UBC-like,superfamily_Inhibitor of apoptosis (IAP) repeat" - no_errors BMPR2 659 hgsc.bcm.edu 36 2 203128907 203128907 + Silent SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 203128907 203128907 G A SNP BMPR2 NM_001204 human genbank 54_36p 1 reviewed silent c.2274 p.L758 1 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_SSF57302,HMMPfam_Activin_recp,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors C2orf18 54978 hgsc.bcm.edu 36 2 26852839 26852839 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 26852839 26852839 G T SNP C2orf18 NM_017877 human genbank 54_36p 1 validated missense c.631 p.A211S 1 NULL "superfamily_SSF103481,HMMPfam_DUF6" - no_errors C2orf44 80304 hgsc.bcm.edu 36 2 24115310 24115310 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 24115310 24115310 C T SNP C2orf44 NM_025203 human genbank 54_36p -1 validated missense c.559 p.A187T 1 NULL NULL - no_errors C2orf71 388939 hgsc.bcm.edu 36 2 29141430 29141431 + In_Frame_Ins INS - - GCT novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 29141430 29141431 - GCT INS C2orf71 NM_001029883 human genbank 54_36p -1 predicted in_frame_ins c.3676_3675 p.1225in_frame_insS 0.882:0.718 NULL NULL - no_errors CAD 790 hgsc.bcm.edu 36 2 27310987 27310987 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 27310987 27310987 C T SNP CAD NM_004341 human genbank 54_36p 1 reviewed missense c.3716 p.T1239M 0.98 "HMMPfam_CPSase_L_D2,superfamily_SSF56059" ############################################################################################################################################################################################################################################################### - no_errors CAD 790 hgsc.bcm.edu 36 2 27312788 27312788 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 27312788 27312788 C T SNP CAD NM_004341 human genbank 54_36p 1 reviewed missense c.4207 p.R1403W 0.99 "HMMPfam_MGS,superfamily_SSF52335" ############################################################################################################################################################################################################################################################### - no_errors CCDC141 285025 hgsc.bcm.edu 36 2 179410073 179410073 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 179410073 179410073 C A SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.2393 p.R798M 0.09 NULL HMMPfam_I-set - no_errors CCDC141 285025 hgsc.bcm.edu 36 2 179426450 179426450 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 179426450 179426450 C A SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.1482 p.R494S 1 NULL HMMPfam_I-set - no_errors CCDC88A 55704 hgsc.bcm.edu 36 2 55499508 55499508 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 55499508 55499508 C - DEL CCDC88A NM_018084 human genbank 54_36p -1 validated frame_shift_del c.112 p.E38fs 1 NULL superfamily_Prefoldin "(deletion:cds_exon[55499456,55499556])" no_errors CCDC93 54520 hgsc.bcm.edu 36 2 118419574 118419574 + Splice_Site SNP C C A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 118419574 118419574 C A SNP CCDC93 NM_019044 human genbank 54_36p -1 validated splice_site c.1350+1 e17+1 0.5 - - - no_errors CHN1 1123 hgsc.bcm.edu 36 2 175525161 175525161 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 175525161 175525161 C G SNP CHN1 NM_001025201 human genbank 54_36p -1 reviewed missense c.35 p.R12T 1 NULL "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors CHRNA1 1134 hgsc.bcm.edu 36 2 175326592 175326592 + Silent SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 175326592 175326592 G A SNP CHRNA1 NM_001039523 human genbank 54_36p -1 reviewed silent c.738 p.I246 1 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHRND 1144 hgsc.bcm.edu 36 2 233101515 233101515 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 233101515 233101515 C A SNP CHRND NM_000751 human genbank 54_36p 1 reviewed missense c.414 p.F138L 0 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHRND 1144 hgsc.bcm.edu 36 2 233103001 233103001 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 233103001 233103001 G A SNP CHRND NM_000751 human genbank 54_36p 1 reviewed missense c.728 p.R243H 1 "HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors CLEC4F 165530 hgsc.bcm.edu 36 2 70889992 70889992 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 70889992 70889992 T G SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.1689 p.R563S 0 NULL "PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold" - no_errors CLIP4 79745 hgsc.bcm.edu 36 2 29220191 29220191 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 29220191 29220191 C T SNP CLIP4 NM_024692 human genbank 54_36p 1 validated missense c.761 p.A254V 0.99 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors CNGA3 1261 hgsc.bcm.edu 36 2 98360684 98360684 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 98360684 98360684 G T SNP CNGA3 NM_001298 human genbank 54_36p 1 reviewed missense c.204 p.Q68H 0 NULL "superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors CNGA3 1261 hgsc.bcm.edu 36 2 98379650 98379650 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 98379650 98379650 G A SNP CNGA3 NM_001298 human genbank 54_36p 1 reviewed missense c.1585 p.V529M 1 "HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding" "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors CNGA3 1261 hgsc.bcm.edu 36 2 98379966 98379966 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 98379966 98379966 G T SNP CNGA3 NM_001298 human genbank 54_36p 1 reviewed missense c.1901 p.G634V 0.94 NULL "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors CNTNAP5 129684 hgsc.bcm.edu 36 2 124891577 124891577 + Silent SNP C C T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 124891577 124891577 C T SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed silent c.469 p.L157 0.98 "HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 hgsc.bcm.edu 36 2 124998353 124998353 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 124998353 124998353 G A SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed missense c.1328 p.S443N 0.52 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors COL6A3 1293 hgsc.bcm.edu 36 2 237914353 237914353 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 237914353 237914353 G C SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.7945 p.L2649V 1 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors COL6A3 1293 hgsc.bcm.edu 36 2 237930743 237930743 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 237930743 237930743 C T SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.6568 p.G2190R 0 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COL6A3 1293 hgsc.bcm.edu 36 2 237950405 237950405 + Missense_Mutation SNP A A C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 237950405 237950405 A C SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.2819 p.V940G 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COL6A3 1293 hgsc.bcm.edu 36 2 237968338 237968338 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 237968338 237968338 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed nonsense c.340 p.G114* 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COPS8 10920 hgsc.bcm.edu 36 2 237663282 237663282 + Silent SNP A A G novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 237663282 237663282 A G SNP COPS8 NM_006710 human genbank 54_36p 1 reviewed silent c.237 p.Q79 1 HMMPfam_PCI_Csn8 HMMPfam_PCI_Csn8 - no_errors CPS1 1373 hgsc.bcm.edu 36 2 211229544 211229544 + Silent SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 211229544 211229544 G A SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed silent c.3609 p.S1203 0.44 superfamily_Glutathione synthetase ATP-binding domain-like ############################################################################################################################################################################################################################################################### - no_errors CPS1 1373 hgsc.bcm.edu 36 2 211231582 211231582 + Silent SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 211231582 211231582 C A SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed silent c.3681 p.T1227 1 superfamily_Glutathione synthetase ATP-binding domain-like ############################################################################################################################################################################################################################################################### - no_errors CREG2 200407 hgsc.bcm.edu 36 2 101333854 101333854 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 101333854 101333854 C T SNP CREG2 NM_153836 human genbank 54_36p -1 validated missense c.836 p.R279K 0.01 NULL superfamily_FMN_binding - no_errors CRIM1 51232 hgsc.bcm.edu 36 2 36618062 36618062 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 36618062 36618062 G A SNP CRIM1 NM_016441 human genbank 54_36p 1 provisional missense c.2492 p.R831Q 1 "HMMPfam_VWC,HMMSmart_VWC" "HMMSmart_IB,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Antistasin,superfamily_Antihaemostatic" - no_errors CSRNP3 80034 hgsc.bcm.edu 36 2 166243961 166243961 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G C C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 166243961 166243961 G C SNP CSRNP3 NM_024969 human genbank 54_36p 1 provisional missense c.1210 p.V404L 0.83 NULL NULL - no_errors CTDSP1 58190 hgsc.bcm.edu 36 2 218974574 218974574 + Silent SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 218974574 218974574 C T SNP CTDSP1 NM_021198 human genbank 54_36p 1 provisional silent c.111 p.G37 1 NULL "superfamily_SSF56784,HMMPfam_NIF,HMMSmart_CPDc" - no_errors DARS 1615 hgsc.bcm.edu 36 2 136417426 136417426 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 136417426 136417426 C T SNP DARS NM_001349 human genbank 54_36p -1 validated missense c.415 p.V139I 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti" "superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases" - no_errors DCTN1 1639 hgsc.bcm.edu 36 2 74448402 74448402 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 74448402 74448402 G C SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed missense c.2113 p.L705V 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat" - no_errors DCTN1 1639 hgsc.bcm.edu 36 2 74450063 74450063 + Silent SNP G G T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 74450063 74450063 G T SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed silent c.1456 p.R486 1 NULL "HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat,superfamily_Cap-Gly domain" - no_errors DLX2 1746 hgsc.bcm.edu 36 2 172675111 172675111 + Splice_Site SNP A A G novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 172675111 172675111 A G SNP DLX2 NM_004405 human genbank 54_36p -1 reviewed splice_site c.400+2 e1+2 1 - - - no_errors DNAH7 56171 hgsc.bcm.edu 36 2 196445387 196445387 + Silent SNP G G T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 196445387 196445387 G T SNP DNAH7 NM_018897 human genbank 54_36p -1 validated silent c.6465 p.G2155 0.97 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT" - no_errors DNAJC10 54431 hgsc.bcm.edu 36 2 183301929 183301929 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 183301929 183301929 A G SNP DNAJC10 NM_018981 human genbank 54_36p 1 provisional missense c.596 p.N199S 1 "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors DPP4 1803 hgsc.bcm.edu 36 2 162560109 162560109 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 162560109 162560109 C A SNP DPP4 NM_001935 human genbank 54_36p -1 reviewed missense c.2072 p.R691I 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9" "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors DTNB 1838 hgsc.bcm.edu 36 2 25531819 25531819 + Silent SNP C C A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 25531819 25531819 C A SNP DTNB NM_021907 human genbank 54_36p -1 reviewed silent c.1128 p.A376 0.99 NULL "superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors DUSP19 142679 hgsc.bcm.edu 36 2 183651997 183651997 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 183651997 183651997 A G SNP DUSP19 NM_080876 human genbank 54_36p 1 validated missense c.91 p.I31V 0.81 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc" - no_errors DUSP19 142679 hgsc.bcm.edu 36 2 183668515 183668515 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 183668515 183668515 G C SNP DUSP19 NM_080876 human genbank 54_36p 1 validated missense c.538 p.V180L 1 "HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors ECEL1 9427 hgsc.bcm.edu 36 2 233055839 233055840 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 233055839 233055840 CT - DEL ECEL1 NM_004826 human genbank 54_36p -1 validated frame_shift_del c.1651_1650 p.V551fs 0.992:0.755 superfamily_Metalloproteases (zincins) catalytic domain "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" "(deletion:cds_exon[233055805,233055908])" no_errors EFEMP1 2202 hgsc.bcm.edu 36 2 55951730 55951730 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 55951730 55951730 G A SNP EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed missense c.1033 p.R345W 1 "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181" "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors EFEMP1 2202 hgsc.bcm.edu 36 2 55958421 55958421 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 55958421 55958421 C G SNP EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed missense c.724 p.G242R 1 "HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors EFEMP1 2202 hgsc.bcm.edu 36 2 55962258 55962258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 55962258 55962258 C A SNP EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed missense c.633 p.Q211H 1 "HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors EFEMP1 2202 hgsc.bcm.edu 36 2 55998334 55998335 + Frame_Shift_Del DEL AG AG - novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 AG AG . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 55998334 55998335 AG - DEL EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed frame_shift_del c.487_486 p.Y163fs 1.000:0.994 NULL "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" "(deletion:cds_exon[55998304,55998690])" no_errors EIF2AK3 9451 hgsc.bcm.edu 36 2 88638527 88638527 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 88638527 88638527 G A SNP EIF2AK3 NM_004836 human genbank 54_36p -1 validated nonsense c.3193 p.R1065* 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Quinoprotein alcohol dehydrogenase-like,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors EPB41L5 57669 hgsc.bcm.edu 36 2 120493254 120493254 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 120493254 120493254 A G SNP EPB41L5 NM_020909 human genbank 54_36p 1 provisional missense c.124 p.I42V 0.93 "HMMSmart_SM00295,superfamily_Ubiquitin-like" "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA" - no_errors FAM119A 151194 hgsc.bcm.edu 36 2 208197198 208197198 + Silent SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 208197198 208197198 C T SNP FAM119A NM_145280 human genbank 54_36p -1 validated silent c.147 p.A49 1 "HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors FAM124B 79843 hgsc.bcm.edu 36 2 224974492 224974492 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 224974492 224974492 C A SNP FAM124B NM_024785 human genbank 54_36p -1 validated missense c.238 p.D80Y 1 NULL NULL - no_errors FAM179A 165186 hgsc.bcm.edu 36 2 29103334 29103334 + Silent SNP G G A novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 29103334 29103334 G A SNP FAM179A NM_199280 human genbank 54_36p 1 validated silent c.1965 p.L655 0.33 superfamily_ARM repeat superfamily_ARM repeat - no_errors FASTKD1 79675 hgsc.bcm.edu 36 2 170102782 170102782 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 170102782 170102782 T G SNP FASTKD1 NM_024622 human genbank 54_36p -1 validated missense c.2061 p.Q687H 0.94 HMMPfam_FAST_2 "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors FASTKD2 22868 hgsc.bcm.edu 36 2 207360933 207360933 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 207360933 207360933 A G SNP FASTKD2 NM_014929 human genbank 54_36p 1 reviewed missense c.1622 p.H541R 0.1 HMMPfam_FAST_2 "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors FBLN7 129804 hgsc.bcm.edu 36 2 112661454 112661454 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 112661454 112661454 C T SNP FBLN7 NM_153214 human genbank 54_36p 1 validated missense c.1220 p.T407M 1 NULL "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors FSHR 2492 hgsc.bcm.edu 36 2 49234922 49234922 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 49234922 49234922 T A SNP FSHR NM_000145 human genbank 54_36p -1 reviewed missense c.139 p.N47Y 0.98 "superfamily_L domain-like,HMMSmart_SM00013" "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FZD7 8324 hgsc.bcm.edu 36 2 202608551 202608551 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 202608551 202608551 C - DEL FZD7 NM_003507 human genbank 54_36p 1 reviewed frame_shift_del c.936 p.A313fs 1 HMMPfam_Frizzled "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled" "(deletion:cds_exon[202607616,202609340])" no_errors GALNT3 2591 hgsc.bcm.edu 36 2 166334963 166334963 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 166334963 166334963 C A SNP GALNT3 NM_004482 human genbank 54_36p -1 reviewed missense c.494 p.G165V 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors GCKR 2646 hgsc.bcm.edu 36 2 27575776 27575776 + Silent SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 27575776 27575776 C T SNP GCKR NM_001486 human genbank 54_36p 1 reviewed silent c.504 p.A168 0.99 superfamily_SIS domain "superfamily_SIS domain,PatternScan_GCKR" - no_errors GCKR 2646 hgsc.bcm.edu 36 2 27583621 27583621 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 27583621 27583621 G A SNP GCKR NM_001486 human genbank 54_36p 1 reviewed missense c.1082 p.R361H 0.98 superfamily_SIS domain "PatternScan_GCKR,superfamily_SIS domain" - no_errors GPR113 165082 hgsc.bcm.edu 36 2 26387453 26387453 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 26387453 26387453 G A SNP GPR113 NM_153835 human genbank 54_36p -1 validated missense c.2050 p.L684F 0.01 HMMPfam_7tm_2 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR113 165082 hgsc.bcm.edu 36 2 26389455 26389455 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 26389455 26389455 G C SNP GPR113 NM_153835 human genbank 54_36p -1 validated missense c.916 p.P306A 0.64 NULL "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GREB1 9687 hgsc.bcm.edu 36 2 11633945 11633945 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G T T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 11633945 11633945 G T SNP GREB1 NM_014668 human genbank 54_36p 1 reviewed missense c.470 p.C157F 1 NULL NULL - no_errors GREB1 9687 hgsc.bcm.edu 36 2 11695321 11695321 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 11695321 11695321 C T SNP GREB1 NM_014668 human genbank 54_36p 1 reviewed missense c.5375 p.P1792L 0.89 NULL NULL - no_errors GTF3C3 9330 hgsc.bcm.edu 36 2 197348113 197348113 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 197348113 197348113 G C SNP GTF3C3 NM_012086 human genbank 54_36p -1 provisional missense c.1803 p.D601E 1 superfamily_TPR-like "HMMSmart_SM00028,superfamily_Protein prenylyltransferase,HMMPfam_TPR_2,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors HDAC4 9759 hgsc.bcm.edu 36 2 239689521 239689521 + Silent SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 239689521 239689521 G A SNP HDAC4 NM_006037 human genbank 54_36p -1 reviewed silent c.2106 p.R702 0.23 "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" - no_errors HDAC4 9759 hgsc.bcm.edu 36 2 239750469 239750469 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 239750469 239750469 T G SNP HDAC4 NM_006037 human genbank 54_36p -1 reviewed missense c.578 p.H193P 1 NULL "HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase" - no_errors HECW2 57520 hgsc.bcm.edu 36 2 196793824 196793824 + Silent SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 196793824 196793824 C T SNP HECW2 NM_020760 human genbank 54_36p -1 provisional silent c.4233 p.K1411 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HJURP 55355 hgsc.bcm.edu 36 2 234414835 234414835 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 234414835 234414835 C T SNP HJURP NM_018410 human genbank 54_36p -1 validated missense c.1330 p.E444K 0.01 NULL NULL - no_errors HOXD10 3236 hgsc.bcm.edu 36 2 176692084 176692084 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 176692084 176692084 A C SNP HOXD10 NM_002148 human genbank 54_36p 1 reviewed missense c.902 p.K301T 1 "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HS1BP3 64342 hgsc.bcm.edu 36 2 20682472 20682472 + Nonsense_Mutation SNP A A T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 20682472 20682472 A T SNP HS1BP3 NM_022460 human genbank 54_36p -1 reviewed nonsense c.935 p.L312* 1 NULL "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" - no_errors IL1F10 84639 hgsc.bcm.edu 36 2 113548448 113548448 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 113548448 113548448 A T SNP IL1F10 NM_032556 human genbank 54_36p 1 reviewed missense c.104 p.D35V 0.08 "HMMSmart_SM00125,superfamily_Cytokine" "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" - no_errors IL1RL2 8808 hgsc.bcm.edu 36 2 102184517 102184517 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 102184517 102184517 G A SNP IL1RL2 NM_003854 human genbank 54_36p 1 reviewed missense c.559 p.A187T 0 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors IMMT 10989 hgsc.bcm.edu 36 2 86251952 86251952 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 86251952 86251952 G A SNP IMMT NM_006839 human genbank 54_36p -1 validated missense c.449 p.S150F 1 HMMPfam_Mitofilin HMMPfam_Mitofilin - no_errors INPP5D 3635 hgsc.bcm.edu 36 2 233633530 233633530 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 233633530 233633530 G C SNP INPP5D ENST00000359570 human ensembl 54_36p 1 known missense c.98 p.S33T 1 "HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550" "HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos" - no_errors IRS1 3667 hgsc.bcm.edu 36 2 227369507 227369507 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 227369507 227369507 T C SNP IRS1 NM_005544 human genbank 54_36p -1 validated missense c.2192 p.D731G 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors IRS1 3667 hgsc.bcm.edu 36 2 227369510 227369511 + Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 227369510 227369511 CC - DEL IRS1 NM_005544 human genbank 54_36p -1 validated frame_shift_del c.2189_2188 p.G730fs 0.128:0.050 NULL "HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729" "(deletion:cds_exon[227367970,227371698])" no_errors ITGA4 3676 hgsc.bcm.edu 36 2 182095165 182095165 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 182095165 182095165 C A SNP ITGA4 NM_000885 human genbank 54_36p 1 reviewed missense c.1925 p.P642H 1 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors KCMF1 56888 hgsc.bcm.edu 36 2 85133899 85133899 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 85133899 85133899 A - DEL KCMF1 NM_020122 human genbank 54_36p 1 validated frame_shift_del c.1002 p.S335fs 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "(deletion:cds_exon[85133782,85134043])" no_errors KCNIP3 30818 hgsc.bcm.edu 36 2 95403774 95403774 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 95403774 95403774 G - DEL KCNIP3 NM_013434 human genbank 54_36p 1 reviewed frame_shift_del c.185 p.S62fs 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" "(deletion:cds_exon[95403771,95403895])" no_errors KCNIP3 30818 hgsc.bcm.edu 36 2 95403795 95403795 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 95403795 95403795 T C SNP KCNIP3 NM_013434 human genbank 54_36p 1 reviewed missense c.206 p.L69P 1 NULL "HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" - no_errors KCNIP3 30818 hgsc.bcm.edu 36 2 95403838 95403838 + Silent SNP G G A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 95403838 95403838 G A SNP KCNIP3 NM_013434 human genbank 54_36p 1 reviewed silent c.249 p.Q83 1 superfamily_EF-hand "HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" - no_errors KIAA1841 84542 hgsc.bcm.edu 36 2 61168827 61168828 + Frame_Shift_Del DEL TG TG - novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 TG TG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 61168827 61168828 TG - DEL KIAA1841 NM_032506 human genbank 54_36p 1 validated frame_shift_del c.920_921 p.F308fs 0.983:0.086 NULL NULL "(deletion:cds_exon[61168798,61168884])" no_errors KLF11 8462 hgsc.bcm.edu 36 2 10105902 10105902 + Silent SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 10105902 10105902 C T SNP KLF11 NM_003597 human genbank 54_36p 1 validated silent c.987 p.F329 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors KLHL29 114818 hgsc.bcm.edu 36 2 23768052 23768052 + Silent SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 23768052 23768052 C T SNP KLHL29 ENST00000288548 human ensembl 54_36p 1 known silent c.423 p.S141 0.33 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors KLHL29 114818 hgsc.bcm.edu 36 2 23779600 23779601 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 23779600 23779601 - T INS KLHL29 ENST00000288548 human ensembl 54_36p 1 known frame_shift_ins c.1483_1484 p.P496fs 1.000:1.000 "HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain" "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_Kelch_2,HMMPfam_BACK,HMMPfam_BTB" - no_errors KLHL29 114818 hgsc.bcm.edu 36 2 23779600 23779601 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 23779600 23779601 - T INS KLHL29 ENST00000288548 human ensembl 54_36p 1 known frame_shift_ins c.1483_1484 p.P496fs 1.000:1.000 "HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain" "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_Kelch_2,HMMPfam_BACK,HMMPfam_BTB" - no_errors LCLAT1 253558 hgsc.bcm.edu 36 2 30716603 30716603 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 30716603 30716603 C T SNP LCLAT1 NM_182551 human genbank 54_36p 1 validated missense c.859 p.R287W 0.88 NULL "superfamily_Glycerol-3-phosphate (1)-acyltransferase,HMMPfam_Acyltransferase,HMMSmart_SM00563" - no_errors LCT 3938 hgsc.bcm.edu 36 2 136291618 136291618 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 136291618 136291618 C A SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.1470 p.E490D 0.95 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors LRP1B 53353 hgsc.bcm.edu 36 2 140975891 140975891 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 140975891 140975891 A T SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.8685 p.F2895L 1 "superfamily_SSF63825,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 hgsc.bcm.edu 36 2 141176508 141176508 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 141176508 141176508 G C SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.6108 p.S2036R 0.95 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 hgsc.bcm.edu 36 2 141176527 141176527 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 141176527 141176527 T C SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.6089 p.E2030G 0.99 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 hgsc.bcm.edu 36 2 141341666 141341666 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 141341666 141341666 A T SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.4542 p.F1514L 1 "HMMPfam_Ldl_recept_b,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 hgsc.bcm.edu 36 2 141494100 141494100 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T G G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 141494100 141494100 T G SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.1831 p.N611H 1 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 hgsc.bcm.edu 36 2 169693767 169693767 + Splice_Site SNP A A T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 169693767 169693767 A T SNP LRP2 NM_004525 human genbank 54_36p -1 validated splice_site c.13800+2 e78+2 1 - - - no_errors LRP2 4036 hgsc.bcm.edu 36 2 169770382 169770382 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 169770382 169770382 C G SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.7568 p.W2523S 1 "superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b" ############################################################################################################################################################################################################################################################### - no_errors LRPPRC 10128 hgsc.bcm.edu 36 2 44026844 44026844 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 44026844 44026844 C T SNP LRPPRC NM_133259 human genbank 54_36p -1 reviewed missense c.2122 p.D708N 0.99 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_PPR" - no_errors MAPRE3 22924 hgsc.bcm.edu 36 2 27102020 27102021 + Frame_Shift_Ins INS - - C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 27102020 27102021 - C INS MAPRE3 NM_012326 human genbank 54_36p 1 reviewed frame_shift_ins c.535_536 p.C182fs 0.987:0.998 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMPfam_EB1" - no_errors MARCO 8685 hgsc.bcm.edu 36 2 119448588 119448588 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 119448588 119448588 C G SNP MARCO NM_006770 human genbank 54_36p 1 reviewed missense c.590 p.P197R 0.99 HMMPfam_Collagen "HMMPfam_Collagen,superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors MDH1B 130752 hgsc.bcm.edu 36 2 207333927 207333927 + Silent SNP T T C novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 207333927 207333927 T C SNP MDH1B NM_001039845 human genbank 54_36p -1 validated silent c.78 p.Q26 1 NULL "superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_LDH C-terminal domain-like" - no_errors MFSD6 54842 hgsc.bcm.edu 36 2 191009562 191009562 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 191009562 191009562 T G SNP MFSD6 NM_017694 human genbank 54_36p 1 validated missense c.562 p.F188V 0 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors MGAT5 4249 hgsc.bcm.edu 36 2 134728487 134728487 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 134728487 134728487 G C SNP MGAT5 NM_002410 human genbank 54_36p 1 validated missense c.43 p.G15R 1 NULL NULL - no_errors MGAT5 4249 hgsc.bcm.edu 36 2 134791632 134791633 + Frame_Shift_Del DEL GA GA - novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 GA GA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 134791632 134791633 GA - DEL MGAT5 NM_002410 human genbank 54_36p 1 validated frame_shift_del c.469_470 p.E157fs 1.000:1.000 NULL NULL "(deletion:cds_exon[134791570,134791646])" no_errors MOGAT1 116255 hgsc.bcm.edu 36 2 223261438 223261439 + Frame_Shift_Del DEL AA AA - novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 223261438 223261439 AA - DEL MOGAT1 NM_058165 human genbank 54_36p 1 validated frame_shift_del c.226_227 p.N77fs 0.721:0.734 HMMPfam_DAGAT HMMPfam_DAGAT "(deletion:cds_exon[223261307,223261485])" no_errors MYL1 4632 hgsc.bcm.edu 36 2 210867218 210867218 + Silent SNP G G T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 210867218 210867218 G T SNP MYL1 NM_079420 human genbank 54_36p -1 reviewed silent c.474 p.T158 0.84 "superfamily_EF-hand,HMMSmart_SM00054" "superfamily_EF-hand,HMMSmart_SM00054" - no_errors MYO3B 140469 hgsc.bcm.edu 36 2 170764928 170764928 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 170764928 170764928 C G SNP MYO3B NM_138995 human genbank 54_36p 1 provisional missense c.209 p.A70G 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors MYO7B 4648 hgsc.bcm.edu 36 2 128109807 128109807 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 128109807 128109807 G A SNP MYO7B NM_001080527 human genbank 54_36p 1 provisional missense c.5783 p.R1928Q 0.28 "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" ############################################################################################################################################################################################################################################################### - no_errors MYT1L 23040 hgsc.bcm.edu 36 2 1870318 1870318 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 1870318 1870318 C A SNP MYT1L NM_015025 human genbank 54_36p -1 validated missense c.2585 p.S862I 1 HMMPfam_MYT1 "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1" - no_errors NAT8B 51471 hgsc.bcm.edu 36 2 73781752 73781752 + Silent SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 73781752 73781752 G A SNP ENSG00000204872 ENST00000377712 human ensembl 54_36p -1 novel silent c.117 p.A39 0.07 superfamily_Acyl-CoA N-acyltransferases (Nat) "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_Acetyltransf_1" - no_errors NCK2 8440 hgsc.bcm.edu 36 2 105837967 105837967 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 105837967 105837967 A T SNP NCK2 NM_001004720 human genbank 54_36p 1 reviewed missense c.16 p.I6F 1 "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" - no_errors NCKAP1 10787 hgsc.bcm.edu 36 2 183556332 183556332 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 183556332 183556332 C A SNP NCKAP1 NM_205842 human genbank 54_36p -1 validated missense c.1046 p.R349L 1 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors NCOA1 8648 hgsc.bcm.edu 36 2 24781576 24781576 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 24781576 24781576 C T SNP NCOA1 NM_003743 human genbank 54_36p 1 reviewed missense c.1067 p.P356L 1 superfamily_PYP-like sensor domain (PAS domain) ############################################################################################################################################################################################################################################################### - no_errors NEUROD1 4760 hgsc.bcm.edu 36 2 182251168 182251169 + Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 182251168 182251169 - G INS NEUROD1 NM_002500 human genbank 54_36p -1 reviewed frame_shift_ins c.665_664 p.Q222fs 1.000:1.000 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors NLRC4 58484 hgsc.bcm.edu 36 2 32329080 32329080 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 32329080 32329080 G A SNP NLRC4 NM_021209 human genbank 54_36p -1 validated nonsense c.1357 p.R453* 0.8 NULL "HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like" - no_errors NR4A2 4929 hgsc.bcm.edu 36 2 156892706 156892706 + Frame_Shift_Del DEL T T - novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 156892706 156892706 T - DEL NR4A2 NM_006186 human genbank 54_36p -1 reviewed frame_shift_del c.1061 p.E354fs 1 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "(deletion:cds_exon[156892609,156892772])" no_errors NR4A2 4929 hgsc.bcm.edu 36 2 156894619 156894620 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 156894619 156894620 - G INS NR4A2 NM_006186 human genbank 54_36p -1 reviewed frame_shift_ins c.326_325 p.Q109fs 1.000:1.000 NULL "HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors NRBP1 29959 hgsc.bcm.edu 36 2 27516209 27516209 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 27516209 27516209 G C SNP NRBP1 NM_013392 human genbank 54_36p 1 validated missense c.976 p.A326P 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase" - no_errors NRXN1 9378 hgsc.bcm.edu 36 2 50704226 50704226 + Silent SNP T T A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 50704226 50704226 T A SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed silent c.864 p.G288 1 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_SM00294" - no_errors OTOF 9381 hgsc.bcm.edu 36 2 26537068 26537068 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 26537068 26537068 T C SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.5764 p.N1922D 1 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors OTOF 9381 hgsc.bcm.edu 36 2 26537253 26537253 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 26537253 26537253 G A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.5683 p.R1895C 1 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors OTOF 9381 hgsc.bcm.edu 36 2 26549843 26549843 + Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 26549843 26549843 A - DEL OTOF NM_194248 human genbank 54_36p -1 reviewed frame_shift_del c.3505 p.S1169fs 1 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerB,HMMPfam_FerI" "(deletion:cds_exon[26549778,26549939])" no_errors OTOF 9381 hgsc.bcm.edu 36 2 26549844 26549845 + In_Frame_Ins INS - - TCA novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 26549844 26549845 - TCA INS OTOF NM_194248 human genbank 54_36p -1 reviewed in_frame_ins c.3504_3503 p.Q1168in_frame_insHE 1.000:1.000 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerB,HMMPfam_FerI" - no_errors OTOF 9381 hgsc.bcm.edu 36 2 26592844 26592844 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 26592844 26592844 A C SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.455 p.L152R 1 NULL "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerB,HMMPfam_FerI" - no_errors PASK 23178 hgsc.bcm.edu 36 2 241695558 241695558 + Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 241695558 241695558 G A SNP PASK NM_015148 human genbank 54_36p -1 validated nonsense c.3697 p.Q1233* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PAX3 5077 hgsc.bcm.edu 36 2 222793215 222793215 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 222793215 222793215 T A SNP PAX3 NM_181459 human genbank 54_36p -1 reviewed missense c.1061 p.Y354F 1 NULL "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PAX3 5077 hgsc.bcm.edu 36 2 222805126 222805126 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 222805126 222805126 C T SNP PAX3 NM_181459 human genbank 54_36p -1 reviewed missense c.707 p.R236H 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors PDE1A 5136 hgsc.bcm.edu 36 2 183095267 183095267 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 A A G G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 183095267 183095267 A G SNP PDE1A NM_005019 human genbank 54_36p -1 validated missense c.82 p.W28R 1 NULL "HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDK1 5163 hgsc.bcm.edu 36 2 173168901 173168901 + Silent SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 173168901 173168901 C T SNP PDK1 NM_002610 human genbank 54_36p 1 reviewed silent c.1269 p.P423 0.98 NULL "superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain,HMMPfam_BCDHK_Adom3,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMSmart_SM00387" - no_errors PELI1 57162 hgsc.bcm.edu 36 2 64175555 64175555 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 64175555 64175555 C A SNP PELI1 NM_020651 human genbank 54_36p -1 validated nonsense c.1042 p.G348* 1 HMMPfam_Pellino HMMPfam_Pellino - no_errors PER2 8864 hgsc.bcm.edu 36 2 238831994 238831994 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 238831994 238831994 T C SNP PER2 NM_022817 human genbank 54_36p -1 reviewed missense c.1658 p.K553R 0 NULL "HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3" - no_errors PFN4 375189 hgsc.bcm.edu 36 2 24198905 24198905 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 24198905 24198905 C T SNP PFN4 NM_199346 human genbank 54_36p -1 provisional missense c.5 p.S2N 0.99 NULL "superfamily_Profilin (actin-binding protein),HMMPfam_Profilin,HMMSmart_SM00392" - no_errors PGAP1 80055 hgsc.bcm.edu 36 2 197417024 197417025 + Frame_Shift_Ins INS - - TA novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 197417024 197417025 - TA INS PGAP1 NM_024989 human genbank 54_36p -1 validated frame_shift_ins c.2358_2357 p.R786fs 0.947:0.808 NULL "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" - no_errors PGAP1 80055 hgsc.bcm.edu 36 2 197445444 197445444 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 197445444 197445444 A C SNP PGAP1 NM_024989 human genbank 54_36p -1 validated missense c.1694 p.F565C 1 NULL "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" - no_errors PGAP1 80055 hgsc.bcm.edu 36 2 197445444 197445444 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 197445444 197445444 A C SNP PGAP1 NM_024989 human genbank 54_36p -1 validated missense c.1694 p.F565C 1 NULL "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" - no_errors PIKFYVE 200576 hgsc.bcm.edu 36 2 208909061 208909061 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 208909061 208909061 G A SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated missense c.4412 p.R1471K 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PLB1 151056 hgsc.bcm.edu 36 2 28702847 28702847 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 28702847 28702847 G T SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.3628 p.V1210F 0.02 "superfamily_SGNH hydrolase,HMMPfam_Lipase_GDSL" "superfamily_SGNH hydrolase,PatternScan_LIPASE_GDSL_SER,HMMPfam_Lipase_GDSL" - no_errors PLCD4 84812 hgsc.bcm.edu 36 2 219206683 219206683 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 219206683 219206683 T C SNP PLCD4 NM_032726 human genbank 54_36p 1 provisional missense c.1561 p.S521P 1 "superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149" ############################################################################################################################################################################################################################################################### - no_errors PLEK 5341 hgsc.bcm.edu 36 2 68469035 68469035 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 68469035 68469035 T C SNP PLEK NM_002664 human genbank 54_36p 1 validated missense c.670 p.F224L 1 superfamily_SSF46785 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP" - no_errors PMS1 5378 hgsc.bcm.edu 36 2 190416992 190416992 + Silent SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 190416992 190416992 C T SNP PMS1 NM_000534 human genbank 54_36p 1 reviewed silent c.640 p.L214 1 "superfamily_ATP_bd_ATPase,superfamily_Ribosomal_S5_D2-typ_fold" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors POLR1B 84172 hgsc.bcm.edu 36 2 113042125 113042125 + Silent SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 113042125 113042125 G A SNP POLR1B NM_019014 human genbank 54_36p 1 validated silent c.1857 p.L619 1 "superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpa2_4" ############################################################################################################################################################################################################################################################### - no_errors PPIG 9360 hgsc.bcm.edu 36 2 170201655 170201655 + Silent SNP A A G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 170201655 170201655 A G SNP PPIG NM_004792 human genbank 54_36p 1 validated silent c.1641 p.R547 1 NULL "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors PREB 10113 hgsc.bcm.edu 36 2 27208046 27208046 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 27208046 27208046 C T SNP PREB NM_013388 human genbank 54_36p -1 reviewed missense c.1157 p.R386Q 0.99 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like" - no_errors PRKD3 23683 hgsc.bcm.edu 36 2 37334916 37334916 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 37334916 37334916 G T SNP PRKD3 NM_005813 human genbank 54_36p -1 reviewed missense c.2434 p.L812M 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors PROM2 150696 hgsc.bcm.edu 36 2 95308477 95308480 + Frame_Shift_Del DEL GCCC GCCC - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 GCCC GCCC . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 95308477 95308480 GCCC - DEL PROM2 NM_144707 human genbank 54_36p 1 provisional frame_shift_del c.1132_1135 p.A378fs 0.082:0.022:0.002:0.001 HMMPfam_Prominin "HMMPfam_Prominin,PatternScan_PA2_HIS" "(deletion:cds_exon[95308460,95308619])" no_errors PSME4 23198 hgsc.bcm.edu 36 2 53947483 53947483 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 53947483 53947483 C T SNP PSME4 NM_014614 human genbank 54_36p -1 validated missense c.4960 p.A1654T 1 NULL "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors PTPRN 5798 hgsc.bcm.edu 36 2 219870250 219870250 + Silent SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 219870250 219870250 G A SNP PTPRN NM_002846 human genbank 54_36p -1 reviewed silent c.2037 p.C679 0.97 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PUM2 23369 hgsc.bcm.edu 36 2 20357651 20357651 + Silent SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 20357651 20357651 T C SNP PUM2 NM_015317 human genbank 54_36p -1 provisional silent c.1119 p.Q373 1 NULL "superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025" - no_errors RAD51AP2 729475 hgsc.bcm.edu 36 2 17555666 17555666 + Silent SNP C C T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 17555666 17555666 C T SNP RAD51AP2 NM_001099218 human genbank 54_36p -1 provisional silent c.3366 p.P1122 1 NULL NULL - no_errors RBKS 64080 hgsc.bcm.edu 36 2 27904043 27904043 + Silent SNP C C T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 27904043 27904043 C T SNP RBKS NM_022128 human genbank 54_36p -1 reviewed silent c.690 p.Q230 0.1 "HMMPfam_PfkB,superfamily_SSF53613" "PatternScan_PFKB_KINASES_1,HMMPfam_PfkB,superfamily_SSF53613,PatternScan_PFKB_KINASES_2" - no_errors RBM43 375287 hgsc.bcm.edu 36 2 151816334 151816334 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 151816334 151816334 T - DEL RBM43 NM_198557 human genbank 54_36p -1 validated frame_shift_del c.406 p.I136fs 0.99 NULL NULL "(deletion:cds_exon[151815666,151816424])" no_errors REL 5966 hgsc.bcm.edu 36 2 60997526 60997526 + Silent SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 60997526 60997526 A G SNP REL NM_002908 human genbank 54_36p 1 validated silent c.405 p.K135 1 "superfamily_P53_like_DNA_bnd,HMMPfam_RHD" "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" - no_errors REV1 51455 hgsc.bcm.edu 36 2 99386651 99386651 + Silent SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 99386651 99386651 C G SNP REV1 NM_016316 human genbank 54_36p -1 reviewed silent c.3105 p.A1035 0.13 NULL "HMMPfam_BRCT,superfamily_BRCT domain,HMMSmart_SM00292,superfamily_DNA/RNA polymerases,HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain" - no_errors RIF1 55183 hgsc.bcm.edu 36 2 152033312 152033312 + Splice_Site SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 152033312 152033312 G C SNP RIF1 NM_018151 human genbank 54_36p 1 validated splice_site c.6825+1 e31+1 1 - - - no_errors RNF25 64320 hgsc.bcm.edu 36 2 219237067 219237067 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 219237067 219237067 T C SNP RNF25 NM_022453 human genbank 54_36p -1 reviewed missense c.1237 p.R413G 1 NULL "HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RNF25 64320 hgsc.bcm.edu 36 2 219237390 219237390 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 219237390 219237390 G A SNP RNF25 NM_022453 human genbank 54_36p -1 reviewed missense c.914 p.P305L 0.05 NULL "HMMSmart_SM00184,HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors SCN1A 6323 hgsc.bcm.edu 36 2 166611528 166611528 + Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 166611528 166611528 G A SNP SCN1A NM_006920 human genbank 54_36p -1 validated nonsense c.1375 p.Q459* 1 NULL "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P" - no_errors SCN2A 6326 hgsc.bcm.edu 36 2 165878864 165878864 + Silent SNP G G A novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 165878864 165878864 G A SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed silent c.1383 p.Q461 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN2A 6326 hgsc.bcm.edu 36 2 165907051 165907051 + Splice_Site SNP G G A novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 165907051 165907051 G A SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed splice_site c.2389-1 e14-1 1 - - - no_errors SCN3A 6328 hgsc.bcm.edu 36 2 165655734 165655734 + Silent SNP G G A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 165655734 165655734 G A SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed silent c.5175 p.D1725 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ" - no_errors SEMA4F 10505 hgsc.bcm.edu 36 2 74754329 74754329 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 74754329 74754329 G C SNP SEMA4F NM_004263 human genbank 54_36p 1 provisional missense c.688 p.A230P 0.4 "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat" - no_errors SFXN5 94097 hgsc.bcm.edu 36 2 73139227 73139227 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 73139227 73139227 A G SNP SFXN5 NM_144579 human genbank 54_36p -1 validated missense c.109 p.F37L 1 HMMPfam_Mtc HMMPfam_Mtc - no_errors SH3BP4 23677 hgsc.bcm.edu 36 2 235614424 235614424 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 235614424 235614424 A T SNP SH3BP4 NM_014521 human genbank 54_36p 1 reviewed missense c.272 p.E91V 1 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors SLC16A14 151473 hgsc.bcm.edu 36 2 230619270 230619270 + Silent SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 230619270 230619270 C T SNP SLC16A14 NM_152527 human genbank 54_36p -1 provisional silent c.816 p.G272 0 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC19A3 80704 hgsc.bcm.edu 36 2 228271949 228271949 + Silent SNP C C A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 228271949 228271949 C A SNP SLC19A3 NM_025243 human genbank 54_36p -1 validated silent c.726 p.G242 0 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Folate_carrier" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Folate_carrier" - no_errors SLC35F5 80255 hgsc.bcm.edu 36 2 114216747 114216747 + Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 114216747 114216747 A - DEL SLC35F5 NM_025181 human genbank 54_36p -1 provisional frame_shift_del c.742 p.C248fs 1 superfamily_Multidrug resistance efflux transporter EmrE "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6" "(deletion:cds_exon[114216739,114216926])" no_errors SLC4A5 57835 hgsc.bcm.edu 36 2 74311894 74311894 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 74311894 74311894 C G SNP SLC4A5 NM_021196 human genbank 54_36p -1 reviewed missense c.2824 p.V942L 0.95 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC8A1 6546 hgsc.bcm.edu 36 2 40245569 40245569 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 40245569 40245569 C - DEL SLC8A1 NM_021097 human genbank 54_36p -1 validated frame_shift_del c.2098 p.E700fs 1 NULL "HMMPfam_Na_Ca_ex,HMMPfam_Calx-beta,HMMSmart_SM00237" "(deletion:cds_exon[40245498,40245628])" no_errors SLC8A1 6546 hgsc.bcm.edu 36 2 40510125 40510125 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 40510125 40510125 C A SNP SLC8A1 NM_021097 human genbank 54_36p -1 validated missense c.800 p.R267L 1 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_Na_Ca_ex" - no_errors SLC9A4 389015 hgsc.bcm.edu 36 2 102509162 102509162 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 102509162 102509162 A C SNP SLC9A4 NM_001011552 human genbank 54_36p 1 validated missense c.1963 p.N655H 0.99 NULL HMMPfam_Na_H_Exchanger - no_errors SMARCAL1 50485 hgsc.bcm.edu 36 2 216988268 216988268 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 216988268 216988268 C G SNP SMARCAL1 NM_014140 human genbank 54_36p 1 reviewed missense c.596 p.P199R 0 NULL "HMMPfam_HARP,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors SMARCAL1 50485 hgsc.bcm.edu 36 2 217020051 217020051 + Silent SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 217020051 217020051 G A SNP SMARCAL1 NM_014140 human genbank 54_36p 1 reviewed silent c.1776 p.T592 0.41 "HMMSmart_DEXDc,superfamily_SSF52540" "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HARP,HMMSmart_DEXDc,superfamily_SSF52540" - no_errors SNED1 25992 hgsc.bcm.edu 36 2 241653476 241653479 + Frame_Shift_Del DEL CAGG CAGG - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 CAGG CAGG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 241653476 241653479 CAGG - DEL SNED1 NM_001080437 human genbank 54_36p 1 provisional frame_shift_del c.2802_2805 p.Q936fs 0.891:0.889:0.900:0.944 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[241653388,241653684])" no_errors SNRNP200 23020 hgsc.bcm.edu 36 2 96314752 96314752 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 96314752 96314752 C G SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.4057 p.G1353R 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMSmart_SM00611,HMMPfam_Sec63" - no_errors SOS1 6654 hgsc.bcm.edu 36 2 39066517 39066517 + Silent SNP G G C novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 39066517 39066517 G C SNP SOS1 NM_005633 human genbank 54_36p -1 reviewed silent c.3954 p.S1318 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors SPEG 10290 hgsc.bcm.edu 36 2 220024117 220024117 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 220024117 220024117 C A SNP SPEG NM_005876 human genbank 54_36p 1 validated missense c.2129 p.S710Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SPHKAP 80309 hgsc.bcm.edu 36 2 228591546 228591546 + Silent SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 228591546 228591546 C T SNP SPHKAP NM_030623 human genbank 54_36p -1 validated silent c.2268 p.P756 0 NULL HMMPfam_AKAP_110 - no_errors SPHKAP 80309 hgsc.bcm.edu 36 2 228594672 228594672 + Silent SNP G G A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 228594672 228594672 G A SNP SPHKAP NM_030623 human genbank 54_36p -1 validated silent c.696 p.N232 0.21 NULL HMMPfam_AKAP_110 - no_errors SPR 6697 hgsc.bcm.edu 36 2 72972064 72972064 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 72972064 72972064 A T SNP SPR NM_003124 human genbank 54_36p 1 reviewed nonsense c.676 p.K226* 0.3 superfamily_NAD(P)-bd "superfamily_NAD(P)-bd,HMMPfam_adh_short" - no_errors SPRED2 200734 hgsc.bcm.edu 36 2 65412678 65412678 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 65412678 65412678 A G SNP SPRED2 NM_181784 human genbank 54_36p -1 validated missense c.385 p.S129P 1 NULL "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_Sprouty" - no_errors SPTBN1 6711 hgsc.bcm.edu 36 2 54723706 54723706 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 54723706 54723706 T A SNP SPTBN1 NM_003128 human genbank 54_36p 1 reviewed nonsense c.3941 p.L1314* 1 "HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors SPTBN1 6711 hgsc.bcm.edu 36 2 54727846 54727846 + Silent SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 54727846 54727846 C T SNP SPTBN1 NM_003128 human genbank 54_36p 1 reviewed silent c.4941 p.T1647 0.02 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like" - no_errors ST6GAL2 84620 hgsc.bcm.edu 36 2 106826760 106826760 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 106826760 106826760 C T SNP ST6GAL2 NM_032528 human genbank 54_36p -1 validated missense c.106 p.A36T 0 NULL "HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase" - no_errors STAT1 6772 hgsc.bcm.edu 36 2 191552805 191552805 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 191552805 191552805 C G SNP STAT1 NM_007315 human genbank 54_36p -1 reviewed missense c.1665 p.W555C 1 "HMMPfam_STAT_bind,superfamily_p53-like transcription factors" "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2" - no_errors STK11IP 114790 hgsc.bcm.edu 36 2 220171079 220171079 + Silent SNP C C A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 220171079 220171079 C A SNP STK11IP NM_052902 human genbank 54_36p 1 validated silent c.27 p.P9 0.72 NULL "superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1" - no_start_codon STON1-GTF2A1L 286749 hgsc.bcm.edu 36 2 48701926 48701926 + Silent SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 48701926 48701926 G A SNP STON1-GTF2A1L NM_172311 human genbank 54_36p 1 reviewed silent c.2352 p.S784 0.82 HMMPfam_TFIIA "superfamily_AP50,HMMPfam_Adap_comp_sub,superfamily_TFIIA_helical,HMMPfam_TFIIA,superfamily_TFIIA_betabarrel" - no_errors TAF1B 9014 hgsc.bcm.edu 36 2 9962475 9962475 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 9962475 9962475 G - DEL TAF1B NM_005680 human genbank 54_36p 1 reviewed frame_shift_del c.844 p.V282fs 0.01 NULL NULL "(deletion:cds_exon[9962439,9962586])" no_errors TET3 200424 hgsc.bcm.edu 36 2 74180209 74180211 + In_Frame_Del DEL AGG AGG - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 AGG AGG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 74180209 74180211 AGG - DEL TET3 NM_144993 human genbank 54_36p 1 provisional in_frame_del c.3161_3163 p.E1055in_frame_del 1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[74179911,74180247])" no_errors TFCP2L1 29842 hgsc.bcm.edu 36 2 121755283 121755283 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 121755283 121755283 C T SNP TFCP2L1 NM_014553 human genbank 54_36p -1 validated missense c.97 p.E33K 1 HMMPfam_CP2 "HMMPfam_CP2,superfamily_SAM_homology" - no_errors THADA 63892 hgsc.bcm.edu 36 2 43367627 43367627 + Silent SNP T T C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 43367627 43367627 T C SNP THADA NM_001083953 human genbank 54_36p -1 validated silent c.5088 p.T1696 0.35 NULL "superfamily_ARM repeat,HMMPfam_DUF2428,PatternScan_FORMATE_NITRITE_TP_1" - no_errors THADA 63892 hgsc.bcm.edu 36 2 43657867 43657867 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 43657867 43657867 G A SNP THADA NM_001083953 human genbank 54_36p -1 validated missense c.835 p.R279C 0 NULL "PatternScan_FORMATE_NITRITE_TP_1,superfamily_ARM repeat,HMMPfam_DUF2428" - no_errors THADA 63892 hgsc.bcm.edu 36 2 43657870 43657870 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 43657870 43657870 G A SNP THADA NM_001083953 human genbank 54_36p -1 validated missense c.832 p.L278F 0.32 NULL "PatternScan_FORMATE_NITRITE_TP_1,superfamily_ARM repeat,HMMPfam_DUF2428" - no_errors THAP4 51078 hgsc.bcm.edu 36 2 242194401 242194401 + Splice_Site SNP C C T novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 242194401 242194401 C T SNP THAP4 NM_015963 human genbank 54_36p -1 provisional splice_site c.1400+1 e3+1 1 - - - no_errors THSD7B 80731 hgsc.bcm.edu 36 2 137568942 137568942 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 137568942 137568942 C T SNP THSD7B NM_001080427 human genbank 54_36p 1 provisional missense c.887 p.T296I 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors THSD7B 80731 hgsc.bcm.edu 36 2 138133773 138133773 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 138133773 138133773 C A SNP THSD7B NM_001080427 human genbank 54_36p 1 provisional missense c.4358 p.S1453Y 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" - no_errors TMEM131 23505 hgsc.bcm.edu 36 2 97780348 97780348 + Silent SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 97780348 97780348 G A SNP TMEM131 NM_015348 human genbank 54_36p -1 validated silent c.2782 p.L928 0.92 NULL NULL - no_errors TMEM177 80775 hgsc.bcm.edu 36 2 120155729 120155729 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 120155729 120155729 A C SNP TMEM177 NM_001105198 human genbank 54_36p 1 validated missense c.830 p.N277T 1 NULL NULL - no_errors TMEM18 129787 hgsc.bcm.edu 36 2 662847 662847 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 662847 662847 C A SNP TMEM18 NM_152834 human genbank 54_36p -1 validated missense c.194 p.C65F 0.99 NULL NULL - no_errors TMEM37 140738 hgsc.bcm.edu 36 2 119911121 119911122 + In_Frame_Ins INS - - GTGTGC rs3217464 Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 119911121 119911122 - GTGTGC INS TMEM37 NM_183240 human genbank 54_36p 1 validated in_frame_ins c.208_209 p.T70in_frame_insSVP 0.975:0.000 NULL NULL - no_errors TNS1 7145 hgsc.bcm.edu 36 2 218420723 218420723 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 218420723 218420723 T C SNP TNS1 NM_022648 human genbank 54_36p -1 reviewed missense c.2387 p.Y796C 0.96 NULL "superfamily_SSF52799,HMMPfam_PTEN_C2,superfamily_C2_CaLB,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PTB" - no_errors TPO 7173 hgsc.bcm.edu 36 2 1486754 1486754 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A T A A Unknown Valid Somatic Phase_IV Capture SOLID SOLID 2 1486754 1486754 A T SNP TPO NM_000547 human genbank 54_36p 1 reviewed missense c.2414 p.H805L 0.06 "HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors TRIM54 57159 hgsc.bcm.edu 36 2 27375038 27375038 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 27375038 27375038 C T SNP TRIM54 NM_032546 human genbank 54_36p 1 reviewed missense c.268 p.H90Y 1 superfamily_SSF57850 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX" - no_errors TRIP12 9320 hgsc.bcm.edu 36 2 230377159 230377159 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 230377159 230377159 A T SNP TRIP12 NM_004238 human genbank 54_36p -1 provisional missense c.2454 p.D818E 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_WWE,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors TRIP12 9320 hgsc.bcm.edu 36 2 230432098 230432098 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 230432098 230432098 C T SNP TRIP12 NM_004238 human genbank 54_36p -1 provisional missense c.535 p.A179T 1 NULL "HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WWE,superfamily_ARM-type_fold" - no_errors TUBA4A 7277 hgsc.bcm.edu 36 2 219824183 219824183 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 219824183 219824183 T C SNP TUBA4A NM_006000 human genbank 54_36p -1 reviewed missense c.482 p.Y161C 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors USP34 9736 hgsc.bcm.edu 36 2 61292479 61292479 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 61292479 61292479 G C SNP USP34 NM_014709 human genbank 54_36p -1 validated missense c.8772 p.F2924L 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP34 9736 hgsc.bcm.edu 36 2 61429042 61429042 + Silent SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 61429042 61429042 C A SNP USP34 NM_014709 human genbank 54_36p -1 validated silent c.1752 p.G584 0.77 NULL "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors VIL1 7429 hgsc.bcm.edu 36 2 219005901 219005901 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 219005901 219005901 C T SNP VIL1 NM_007127 human genbank 54_36p 1 reviewed missense c.1483 p.R495C 0.55 "superfamily_SSF55753,HMMSmart_GEL" "superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF82754,superfamily_VHP,HMMPfam_VHP,HMMSmart_VHP" - no_errors VIT 5212 hgsc.bcm.edu 36 2 36864042 36864042 + Silent SNP A A G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 36864042 36864042 A G SNP VIT NM_053276 human genbank 54_36p 1 provisional silent c.903 p.G301 1 NULL "superfamily_LCCL,HMMSmart_LCCL,HMMPfam_LCCL,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" - no_errors WDR33 55339 hgsc.bcm.edu 36 2 128180449 128180450 + Frame_Shift_Ins INS - - CACTTCT novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 128180449 128180450 - CACTTCT INS WDR33 NM_018383 human genbank 54_36p -1 reviewed frame_shift_ins c.3929_3928 p.G1310fs 1.000:1.000 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_Collagen" - no_errors WDR75 84128 hgsc.bcm.edu 36 2 190048275 190048275 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 190048275 190048275 G C SNP WDR75 NM_032168 human genbank 54_36p 1 provisional missense c.2380 p.D794H 0.57 NULL "PatternScan_WD_REPEATS_1,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40" - no_errors XIRP2 129446 hgsc.bcm.edu 36 2 167700789 167700789 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 167700789 167700789 C A SNP XIRP2 NM_152381 human genbank 54_36p 1 validated missense c.533 p.P178H 1 NULL HMMPfam_Xin - no_errors XIRP2 129446 hgsc.bcm.edu 36 2 167815906 167815906 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 167815906 167815906 G A SNP XIRP2 NM_152381 human genbank 54_36p 1 validated missense c.9758 p.R3253K 0.7 NULL HMMPfam_Xin - no_errors YSK4 80122 hgsc.bcm.edu 36 2 135460621 135460621 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 135460621 135460621 T A SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.2291 p.E764V 0.03 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ZDBF2 57683 hgsc.bcm.edu 36 2 206883093 206883093 + Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 206883093 206883093 A - DEL ZDBF2 NM_020923 human genbank 54_36p 1 validated frame_shift_del c.5596 p.V1868fs 0 NULL HMMPfam_zf-DBF "(deletion:cds_exon[206877686,206884562])" no_errors ZEB2 9839 hgsc.bcm.edu 36 2 144872480 144872480 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 144872480 144872480 G T SNP ZEB2 NM_014795 human genbank 54_36p -1 validated missense c.2744 p.T915N 1 NULL "PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX" - no_errors ZEB2 9839 hgsc.bcm.edu 36 2 144872888 144872888 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 144872888 144872888 C T SNP ZEB2 NM_014795 human genbank 54_36p -1 validated missense c.2336 p.R779K 1 NULL "HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1,superfamily_SSF57667" - no_errors ZNF804A 91752 hgsc.bcm.edu 36 2 185439358 185439358 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 185439358 185439358 A T SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional missense c.129 p.E43D 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF804A 91752 hgsc.bcm.edu 36 2 185510456 185510456 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 185510456 185510456 C A SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional missense c.2088 p.N696K 0 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ABCC5 10057 hgsc.bcm.edu 36 3 185121793 185121793 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C G C C Unknown Valid Somatic Phase_IV Capture SOLID SOLID 3 185121793 185121793 C G SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed missense c.4303 p.V1435L 1 NULL "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABHD5 51099 hgsc.bcm.edu 36 3 43718856 43718856 + Silent SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 43718856 43718856 G A SNP ABHD5 NM_016006 human genbank 54_36p 1 reviewed silent c.279 p.L93 0.99 superfamily_SSF53474 "superfamily_SSF53474,HMMPfam_Abhydrolase_1" - no_errors ABHD6 57406 hgsc.bcm.edu 36 3 58246189 58246189 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 58246189 58246189 C T SNP ABHD6 NM_020676 human genbank 54_36p 1 validated missense c.806 p.P269L 0.95 "superfamily_SSF53474,HMMPfam_Abhydrolase_1" "superfamily_SSF53474,HMMPfam_Abhydrolase_1" - no_errors ACTL6A 86 hgsc.bcm.edu 36 3 180770642 180770642 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 180770642 180770642 C T SNP ACTL6A NM_004301 human genbank 54_36p 1 reviewed missense c.196 p.P66S 1 "HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268" "HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268,PatternScan_ASP_PROTEASE,PatternScan_ACTINS_2" - no_errors ACTR8 93973 hgsc.bcm.edu 36 3 53879207 53879207 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 53879207 53879207 C G SNP ACTR8 NM_022899 human genbank 54_36p -1 validated missense c.1573 p.D525H 1 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN" - no_errors ACTR8 93973 hgsc.bcm.edu 36 3 53886374 53886374 + Silent SNP A A T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 53886374 53886374 A T SNP ACTR8 NM_022899 human genbank 54_36p -1 validated silent c.591 p.P197 1 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" - no_errors ACY1 95 hgsc.bcm.edu 36 3 51995533 51995534 + Frame_Shift_Ins INS - - TG novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 51995533 51995534 - TG INS ACY1 NM_000666 human genbank 54_36p 1 reviewed frame_shift_ins c.499_500 p.R168fs 0.985:0.983 "superfamily_SSF53187,HMMPfam_Peptidase_M20" "superfamily_SSF53187,PatternScan_ARGE_DAPE_CPG2_1,HMMPfam_Peptidase_M20,PatternScan_ARGE_DAPE_CPG2_2,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer" - no_errors ADAMTS9 56999 hgsc.bcm.edu 36 3 64562774 64562774 + Silent SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 64562774 64562774 G A SNP ADAMTS9 NM_182920 human genbank 54_36p -1 reviewed silent c.3903 p.D1301 0.03 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors ADCY5 111 hgsc.bcm.edu 36 3 124488299 124488299 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 124488299 124488299 G T SNP ADCY5 NM_183357 human genbank 54_36p -1 validated missense c.3580 p.P1194T 1 "HMMSmart_CYCc,HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1" "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors ALAS1 211 hgsc.bcm.edu 36 3 52220371 52220371 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 52220371 52220371 G A SNP ALAS1 NM_000688 human genbank 54_36p 1 validated missense c.1363 p.A455T 1 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_2" - no_errors ALDH1L1 10840 hgsc.bcm.edu 36 3 127354975 127354975 + Splice_Site SNP A A T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 127354975 127354975 A T SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed splice_site c.858+2 e6+2 1 - - - no_errors ANO10 55129 hgsc.bcm.edu 36 3 43449204 43449204 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 43449204 43449204 T C SNP ANO10 NM_018075 human genbank 54_36p -1 validated missense c.1817 p.K606R 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors APEH 327 hgsc.bcm.edu 36 3 49687675 49687675 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 49687675 49687675 C A SNP APEH NM_001640 human genbank 54_36p 1 reviewed nonsense c.201 p.Y67* 1 superfamily_Peptidase_S9A_N "superfamily_Peptidase_S9A_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors ARIH2 10425 hgsc.bcm.edu 36 3 48987259 48987259 + Silent SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 48987259 48987259 C T SNP ARIH2 NM_006321 human genbank 54_36p 1 provisional silent c.894 p.P298 1 "HMMSmart_SM00647,HMMPfam_IBR,superfamily_RING/U-box" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_IBR,HMMSmart_SM00647,PatternScan_ZF_RING_1" - no_errors ARPP21 10777 hgsc.bcm.edu 36 3 35810268 35810268 + Silent SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 35810268 35810268 G A SNP ARPP-21 NM_016300 human genbank 54_36p 1 validated silent c.2253 p.Q751 1 NULL "HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H" - no_errors ASTE1 28990 hgsc.bcm.edu 36 3 132215737 132215737 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 132215737 132215737 T - DEL ASTE1 NM_014065 human genbank 54_36p -1 validated frame_shift_del c.1894 p.R632fs 0.01 NULL "HMMPfam_XPG_N,superfamily_SSF88723" "(deletion:cds_exon[132215591,132215921])" no_errors ATG3 64422 hgsc.bcm.edu 36 3 113751742 113751742 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 113751742 113751742 C G SNP ATG3 NM_022488 human genbank 54_36p -1 provisional missense c.222 p.L74F 1 HMMPfam_Autophagy_N "HMMPfam_Autophagy_N,HMMPfam_Autophagy_act_C,HMMPfam_Autophagy_Cterm" - no_errors ATG3 64422 hgsc.bcm.edu 36 3 113763031 113763031 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 113763031 113763031 G A SNP ATG3 NM_022488 human genbank 54_36p -1 provisional missense c.35 p.A12V 0.99 HMMPfam_Autophagy_N "HMMPfam_Autophagy_N,HMMPfam_Autophagy_act_C,HMMPfam_Autophagy_Cterm" - no_errors ATP13A4 84239 hgsc.bcm.edu 36 3 194607799 194607799 + Silent SNP G G T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 194607799 194607799 G T SNP ATP13A4 NM_032279 human genbank 54_36p -1 validated silent c.3375 p.A1125 0.96 NULL "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like" - no_errors ATP13A4 84239 hgsc.bcm.edu 36 3 194693626 194693626 + Silent SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 194693626 194693626 C A SNP ATP13A4 NM_032279 human genbank 54_36p -1 validated silent c.399 p.V133 1 NULL "HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M" - no_errors ATP13A5 344905 hgsc.bcm.edu 36 3 194525413 194525413 + Silent SNP C C T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 194525413 194525413 C T SNP ATP13A5 NM_198505 human genbank 54_36p -1 provisional silent c.1608 p.L536 1 "superfamily_SSF81665,superfamily_SSF81660" "superfamily_SSF81665,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,superfamily_SSF56784" - no_errors ATP13A5 344905 hgsc.bcm.edu 36 3 194535424 194535424 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 194535424 194535424 C T SNP ATP13A5 NM_198505 human genbank 54_36p -1 provisional missense c.1102 p.V368I 1 "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665" "HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665" - no_errors ATP13A5 344905 hgsc.bcm.edu 36 3 194579201 194579201 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 194579201 194579201 T C SNP ATP13A5 NM_198505 human genbank 54_36p -1 provisional missense c.8 p.E3G 0.03 NULL "HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665" - no_errors ATP2B2 491 hgsc.bcm.edu 36 3 10376757 10376757 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 10376757 10376757 C G SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed missense c.1710 p.E570D 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N" ############################################################################################################################################################################################################################################################### - no_errors BAP1 8314 hgsc.bcm.edu 36 3 52415413 52415413 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 52415413 52415413 G A SNP BAP1 NM_004656 human genbank 54_36p -1 reviewed missense c.679 p.R227C 1 superfamily_Cysteine proteinases "HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases" - no_errors BBX 56987 hgsc.bcm.edu 36 3 108918169 108918169 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 108918169 108918169 T C SNP BBX NM_020235 human genbank 54_36p 1 validated missense c.188 p.L63P 1 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box,HMMPfam_DUF2028" - no_errors BOC 91653 hgsc.bcm.edu 36 3 114481502 114481502 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 114481502 114481502 C A SNP BOC NM_033254 human genbank 54_36p 1 validated missense c.2162 p.T721K 0.98 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_N6_MTASE,PatternScan_CYTOCHROME_P450" - no_errors BOC 91653 hgsc.bcm.edu 36 3 114484983 114484983 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 114484983 114484983 C A SNP BOC NM_033254 human genbank 54_36p 1 validated missense c.2467 p.P823T 1 NULL "PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_CYTOCHROME_P450,superfamily_Immunoglobulin" - no_errors BOC 91653 hgsc.bcm.edu 36 3 114485036 114485036 + Silent SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 114485036 114485036 G A SNP BOC NM_033254 human genbank 54_36p 1 validated silent c.2520 p.P840 0 NULL "PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_CYTOCHROME_P450,superfamily_Immunoglobulin" - no_errors BRPF1 7862 hgsc.bcm.edu 36 3 9756506 9756506 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 9756506 9756506 G C SNP BRPF1 NM_001003694 human genbank 54_36p 1 reviewed missense c.1423 p.G475R 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP" - no_errors C3orf20 84077 hgsc.bcm.edu 36 3 14743469 14743469 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G T T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 14743469 14743469 G T SNP C3orf20 NM_032137 human genbank 54_36p 1 predicted missense c.1624 p.A542S 0 NULL NULL - no_errors C3orf23 285343 hgsc.bcm.edu 36 3 44384187 44384187 + Silent SNP A A G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 44384187 44384187 A G SNP C3orf23 NM_173826 human genbank 54_36p 1 validated silent c.555 p.R185 0.99 NULL NULL - no_errors C3orf30 152405 hgsc.bcm.edu 36 3 120349021 120349021 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 120349021 120349021 T C SNP C3orf30 NM_152539 human genbank 54_36p 1 predicted missense c.1295 p.F432S 0 NULL NULL - no_errors C3orf32 51066 hgsc.bcm.edu 36 3 8647591 8647591 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 8647591 8647591 C A SNP C3orf32 NM_015931 human genbank 54_36p -1 predicted missense c.359 p.R120I 0.9 NULL NULL - no_errors C3orf59 151963 hgsc.bcm.edu 36 3 193999858 193999858 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 193999858 193999858 C G SNP C3orf59 NM_178496 human genbank 54_36p -1 validated missense c.481 p.D161H 1 NULL NULL - no_errors CACNA1D 776 hgsc.bcm.edu 36 3 53785084 53785084 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 53785084 53785084 T G SNP CACNA1D NM_000720 human genbank 54_36p 1 validated missense c.4394 p.I1465S 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA2D2 9254 hgsc.bcm.edu 36 3 50391996 50391996 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 50391996 50391996 G - DEL CACNA2D2 NM_001005505 human genbank 54_36p -1 reviewed frame_shift_del c.1023 p.F342fs 1 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2" "(deletion:cds_exon[50391867,50392025])" no_errors CADPS 8618 hgsc.bcm.edu 36 3 62453050 62453050 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 62453050 62453050 T G SNP CADPS NM_003716 human genbank 54_36p -1 reviewed missense c.2839 p.S947R 1 NULL "HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041" - no_errors CAMK1 8536 hgsc.bcm.edu 36 3 9778325 9778325 + Silent SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 9778325 9778325 C T SNP CAMK1 NM_003656 human genbank 54_36p -1 reviewed silent c.546 p.P182 0.86 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CAMKV 79012 hgsc.bcm.edu 36 3 49874769 49874769 + Silent SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 49874769 49874769 C T SNP CAMKV NM_024046 human genbank 54_36p -1 validated silent c.57 p.E19 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" - no_errors CASR 846 hgsc.bcm.edu 36 3 123486612 123486612 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 123486612 123486612 C T SNP CASR NM_000388 human genbank 54_36p 1 reviewed missense c.3121 p.R1041W 0 NULL "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors CCDC39 339829 hgsc.bcm.edu 36 3 181848716 181848716 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 181848716 181848716 T A SNP CCDC39 NM_181426 human genbank 54_36p -1 validated missense c.1293 p.K431N 0.4 NULL superfamily_Prefoldin - no_errors CCDC39 339829 hgsc.bcm.edu 36 3 181859971 181859971 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 181859971 181859971 A G SNP CCDC39 NM_181426 human genbank 54_36p -1 validated missense c.701 p.M234T 1 NULL superfamily_Prefoldin - no_errors CCDC80 151887 hgsc.bcm.edu 36 3 113839678 113839678 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 113839678 113839678 C T SNP CCDC80 NM_199511 human genbank 54_36p -1 validated missense c.1765 p.G589S 0 NULL NULL - no_errors CCR9 10803 hgsc.bcm.edu 36 3 45918067 45918067 + Silent SNP C C T novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 45918067 45918067 C T SNP CCR9 NM_031200 human genbank 54_36p 1 reviewed silent c.783 p.T261 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CCRL2 9034 hgsc.bcm.edu 36 3 46424640 46424640 + Silent SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 46424640 46424640 C T SNP CCRL2 NM_003965 human genbank 54_36p 1 reviewed silent c.66 p.S22 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors CD200R1 131450 hgsc.bcm.edu 36 3 114130471 114130471 + Silent SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 114130471 114130471 G A SNP CD200R1 NM_138806 human genbank 54_36p -1 reviewed silent c.651 p.S217 0.02 "superfamily_Immunoglobulin,HMMPfam_C2-set_2" "superfamily_Immunoglobulin,HMMPfam_C2-set_2" - no_errors CELSR3 1951 hgsc.bcm.edu 36 3 48655322 48655322 + Splice_Site SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 48655322 48655322 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed splice_site c.8407-1 e30-1 1 - - - no_errors CELSR3 1951 hgsc.bcm.edu 36 3 48659350 48659350 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 48659350 48659350 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.7145 p.S2382N 0.01 NULL ############################################################################################################################################################################################################################################################### - no_errors CHMP2B 25978 hgsc.bcm.edu 36 3 87377619 87377619 + Silent SNP A A G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 87377619 87377619 A G SNP CHMP2B NM_014043 human genbank 54_36p 1 reviewed silent c.192 p.Q64 1 HMMPfam_Snf7 HMMPfam_Snf7 - no_errors CIDEC 63924 hgsc.bcm.edu 36 3 9886605 9886605 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 9886605 9886605 G C SNP CIDEC NM_022094 human genbank 54_36p -1 provisional missense c.515 p.S172C 1 NULL "superfamily_CAD PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266,PatternScan_SERPIN" - no_errors CLCN2 1181 hgsc.bcm.edu 36 3 185553623 185553623 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 185553623 185553623 T A SNP CLCN2 NM_004366 human genbank 54_36p -1 validated missense c.2035 p.T679S 1 HMMPfam_CBS "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS" - no_errors CLDN11 5010 hgsc.bcm.edu 36 3 171619588 171619588 + Missense_Mutation SNP A A T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 171619588 171619588 A T SNP CLDN11 NM_005602 human genbank 54_36p 1 reviewed missense c.40 p.S14C 0.97 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors CLDN18 51208 hgsc.bcm.edu 36 3 139200500 139200500 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 139200500 139200500 G A SNP CLDN18 NM_001002026 human genbank 54_36p 1 validated missense c.100 p.D34N 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors CNTN6 27255 hgsc.bcm.edu 36 3 1399790 1399790 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 1399790 1399790 A T SNP CNTN6 NM_014461 human genbank 54_36p 1 reviewed missense c.2331 p.K777N 1 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors COL6A6 131873 hgsc.bcm.edu 36 3 131823372 131823380 + In_Frame_Del DEL AGGAGAGGC AGGAGAGGC - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 AGGAGAGGC AGGAGAGGC AGGAGAGGC - AGGAGAGGC AGGAGAGGC Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 131823372 131823380 AGGAGAGGC - DEL COL6A6 NM_001102608 human genbank 54_36p 1 provisional in_frame_del c.4833_4841 p.EAG1613in_frame_del 0.376:0.507:0.508:0.395:0.132:0.026:0.000:0.000:0.000 HMMPfam_Collagen "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen" "(deletion:cds_exon[131823355,131823417])" no_errors COL7A1 1294 hgsc.bcm.edu 36 3 48577600 48577601 + Frame_Shift_Ins INS - - GG novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 48577600 48577601 - GG INS COL7A1 NM_000094 human genbank 54_36p -1 reviewed frame_shift_ins c.8566_8565 p.S2855fs 0.049:0.106 NULL "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_Collagen,superfamily_BPTI-like,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors COL7A1 1294 hgsc.bcm.edu 36 3 48580956 48580956 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 48580956 48580956 C T SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed missense c.7774 p.A2592T 0.11 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors CPN2 1370 hgsc.bcm.edu 36 3 195544981 195544981 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 195544981 195544981 G A SNP CPN2 NM_001080513 human genbank 54_36p -1 validated missense c.146 p.P49L 0.05 "HMMSmart_LRRNT,superfamily_SSF52047" "HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT" - no_errors CSRNP1 64651 hgsc.bcm.edu 36 3 39161586 39161586 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 39161586 39161586 G T SNP AXUD1 NM_033027 human genbank 54_36p -1 reviewed missense c.371 p.S124Y 1 NULL NULL - no_errors CTNNB1 1499 hgsc.bcm.edu 36 3 41250773 41250773 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 41250773 41250773 G C SNP CTNNB1 NM_001098209 human genbank 54_36p 1 validated missense c.1664 p.G555A 1 "superfamily_ARM repeat,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors CYP8B1 1582 hgsc.bcm.edu 36 3 42891319 42891319 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 42891319 42891319 C T SNP CYP8B1 NM_004391 human genbank 54_36p -1 reviewed missense c.994 p.G332S 0.3 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450" - no_errors DAG1 1605 hgsc.bcm.edu 36 3 49543630 49543630 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 49543630 49543630 G T SNP DAG1 NM_004393 human genbank 54_36p 1 reviewed missense c.682 p.V228L 1 "HMMPfam_DAG1,superfamily_SSF111006" "HMMPfam_DAG1,superfamily_Cadherin,HMMSmart_CADG,superfamily_SSF111006" - no_errors DAG1 1605 hgsc.bcm.edu 36 3 49544914 49544914 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 49544914 49544914 G A SNP DAG1 NM_004393 human genbank 54_36p 1 reviewed missense c.1966 p.V656M 0.69 HMMPfam_DAG1 "HMMSmart_CADG,HMMPfam_DAG1,superfamily_Cadherin,superfamily_SSF111006" - no_errors DHX30 22907 hgsc.bcm.edu 36 3 47863232 47863232 + Missense_Mutation SNP G G A rs36045705 Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 47863232 47863232 G A SNP DHX30 NM_138615 human genbank 54_36p 1 reviewed missense c.1666 p.V556I 1 "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE" "superfamily_dsRNA-binding domain-like,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DLEC1 9940 hgsc.bcm.edu 36 3 38114134 38114134 + Splice_Site SNP T T A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 38114134 38114134 T A SNP DLEC1 NM_007337 human genbank 54_36p 1 reviewed splice_site c.2565+2 e17+2 1 - - - no_errors DLEC1 9940 hgsc.bcm.edu 36 3 38133126 38133126 + Silent SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 38133126 38133126 G A SNP DLEC1 NM_007337 human genbank 54_36p 1 reviewed silent c.4035 p.S1345 0 NULL NULL - no_errors DLG1 1739 hgsc.bcm.edu 36 3 198347889 198347889 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 198347889 198347889 C T SNP DLG1 NM_004087 human genbank 54_36p -1 validated missense c.1040 p.S347N 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" ############################################################################################################################################################################################################################################################### - no_errors DNAH1 25981 hgsc.bcm.edu 36 3 52379212 52379214 + In_Frame_Del DEL CAA CAA - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 CAA CAA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 52379212 52379214 CAA - DEL DNAH1 ENST00000273600 human ensembl 54_36p 1 known in_frame_del c.6185_6187 p.T2063in_frame_del 0.994:0.692:0.933 NULL "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" "(deletion:cds_exon[52379166,52379285])" no_errors DPPA2 151871 hgsc.bcm.edu 36 3 110516051 110516051 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 110516051 110516051 T C SNP DPPA2 NM_138815 human genbank 54_36p -1 provisional missense c.29 p.K10R 0.18 NULL HMMSmart_SAP - no_errors DYNC1LI1 51143 hgsc.bcm.edu 36 3 32545051 32545051 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 32545051 32545051 C G SNP DYNC1LI1 NM_016141 human genbank 54_36p -1 validated missense c.1353 p.L451F 1 HMMPfam_DLIC "HMMPfam_DLIC,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DZIP3 9666 hgsc.bcm.edu 36 3 109846258 109846258 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 109846258 109846258 G C SNP DZIP3 NM_014648 human genbank 54_36p 1 validated missense c.1699 p.V567L 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors ECT2 1894 hgsc.bcm.edu 36 3 173955783 173955783 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 173955783 173955783 G C SNP ECT2 NM_018098 human genbank 54_36p 1 reviewed missense c.135 p.E45D 1 NULL "superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like" - no_errors EHHADH 1962 hgsc.bcm.edu 36 3 186404907 186404907 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 186404907 186404907 C G SNP EHHADH NM_001966 human genbank 54_36p -1 validated missense c.901 p.G301R 1 "superfamily_NAD(P)-bd,HMMPfam_3HCDH_N" "superfamily_SSF52096,HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE,superfamily_NAD(P)-bd,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,HMMPfam_3HCDH" - no_errors EIF4A2 1974 hgsc.bcm.edu 36 3 187984101 187984101 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 187984101 187984101 G T SNP EIF4A2 NM_001967 human genbank 54_36p 1 validated missense c.8 p.G3V 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors EIF4A2 1974 hgsc.bcm.edu 36 3 187988016 187988016 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 187988016 187988016 G C SNP EIF4A2 NM_001967 human genbank 54_36p 1 validated missense c.948 p.M316I 1 "HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors EPHA3 2042 hgsc.bcm.edu 36 3 89342107 89342107 + Silent SNP T T G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 89342107 89342107 T G SNP EPHA3 NM_005233 human genbank 54_36p 1 reviewed silent c.561 p.G187 1 "HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors EPHA3 2042 hgsc.bcm.edu 36 3 89582131 89582131 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 89582131 89582131 T G SNP EPHA3 NM_005233 human genbank 54_36p 1 reviewed missense c.2611 p.F871V 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EPHA6 285220 hgsc.bcm.edu 36 3 98188958 98188958 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 98188958 98188958 G C SNP EPHA6 NM_001080448 human genbank 54_36p 1 provisional missense c.545 p.R182P 1 "superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615" ############################################################################################################################################################################################################################################################### - no_errors EPHB3 2049 hgsc.bcm.edu 36 3 185773410 185773410 + Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 185773410 185773410 T - DEL EPHB3 NM_004443 human genbank 54_36p 1 reviewed frame_shift_del c.608 p.I203fs 1 "superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,PatternScan_RECEPTOR_TYR_KIN_V_1" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[185772986,185773658])" no_errors EPHB3 2049 hgsc.bcm.edu 36 3 185778418 185778418 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 185778418 185778418 A C SNP EPHB3 NM_004443 human genbank 54_36p 1 reviewed missense c.1678 p.I560L 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MECOM 2122 hgsc.bcm.edu 36 3 170302618 170302618 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 170302618 170302618 T C SNP EVI1 NM_001105077 human genbank 54_36p -1 validated missense c.2323 p.M775V 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FGF12 2257 hgsc.bcm.edu 36 3 193560948 193560948 + Silent SNP A A T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 193560948 193560948 A T SNP FGF12 NM_021032 human genbank 54_36p -1 reviewed silent c.273 p.G91 0.96 "superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF" "superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors FLNB 2317 hgsc.bcm.edu 36 3 58083926 58083926 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 58083926 58083926 A C SNP FLNB NM_001457 human genbank 54_36p 1 validated missense c.3193 p.T1065P 1 "HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN" - no_errors FNDC3B 64778 hgsc.bcm.edu 36 3 173448059 173448059 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 173448059 173448059 C T SNP FNDC3B NM_022763 human genbank 54_36p 1 validated missense c.307 p.P103S 1 NULL "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F2" - no_errors FRMD4B 23150 hgsc.bcm.edu 36 3 69326925 69326925 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 69326925 69326925 G T SNP FRMD4B NM_015123 human genbank 54_36p -1 validated missense c.1426 p.Q476K 1 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C" - no_errors FRMD4B 23150 hgsc.bcm.edu 36 3 69350185 69350185 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 69350185 69350185 C A SNP FRMD4B NM_015123 human genbank 54_36p -1 validated missense c.767 p.G256V 1 "PatternScan_FERM_2,HMMPfam_FERM_M,HMMSmart_SM00295,superfamily_PH domain-like" "HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like" - no_errors GHRL 51738 hgsc.bcm.edu 36 3 10303459 10303459 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 10303459 10303459 C A SNP GHRL NM_016362 human genbank 54_36p -1 reviewed missense c.263 p.G88V 0.99 HMMPfam_Motilin_assoc "HMMPfam_Motilin_ghrelin,HMMPfam_Motilin_assoc" - no_errors GHSR 2693 hgsc.bcm.edu 36 3 173648269 173648269 + Missense_Mutation SNP A A T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 173648269 173648269 A T SNP GHSR NM_198407 human genbank 54_36p -1 reviewed missense c.629 p.L210H 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GLB1 2720 hgsc.bcm.edu 36 3 33074624 33074625 + Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 33074624 33074625 CC - DEL GLB1 NM_000404 human genbank 54_36p -1 reviewed frame_shift_del c.694_693 p.A232fs 0.429:0.540 "HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F35" "(deletion:cds_exon[33074585,33074765])" no_errors GNAT1 2779 hgsc.bcm.edu 36 3 50207281 50207281 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture SOLID SOLID 3 50207281 50207281 G C SNP GNAT1 NM_000172 human genbank 54_36p 1 reviewed missense c.942 p.E314D 1 "superfamily_SSF52540,HMMPfam_G-alpha" "superfamily_SSF52540,HMMPfam_G-alpha,superfamily_Transducn_insert" - no_errors GOLGA4 2803 hgsc.bcm.edu 36 3 37298467 37298467 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 37298467 37298467 G T SNP GOLGA4 NM_002078 human genbank 54_36p 1 reviewed missense c.177 p.Q59H 1 NULL "superfamily_Prefoldin,PatternScan_PHOSPHOPANTETHEINE,HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain" - no_errors GOLGA4 2803 hgsc.bcm.edu 36 3 37340332 37340332 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 37340332 37340332 C G SNP GOLGA4 NM_002078 human genbank 54_36p 1 reviewed missense c.1951 p.Q651E 0.46 NULL "HMMPfam_GRIP,HMMSmart_SM00755,PatternScan_PHOSPHOPANTETHEINE,superfamily_Prefoldin,superfamily_GRIP domain" - no_errors GOLGB1 2804 hgsc.bcm.edu 36 3 122898330 122898330 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 122898330 122898330 G C SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.3715 p.Q1239E 0.12 NULL "superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340" - no_errors GOLIM4 27333 hgsc.bcm.edu 36 3 169233012 169233012 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 169233012 169233012 G T SNP GOLIM4 NM_014498 human genbank 54_36p -1 reviewed missense c.1166 p.A389E 0 NULL NULL - no_errors GORASP1 64689 hgsc.bcm.edu 36 3 39114975 39114975 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 39114975 39114975 G C SNP GORASP1 NM_031899 human genbank 54_36p -1 reviewed missense c.1079 p.T360R 1 HMMPfam_GRASP55_65 "superfamily_PDZ domain-like,HMMPfam_GRASP55_65" - no_errors HEG1 57493 hgsc.bcm.edu 36 3 126230766 126230766 + Silent SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 126230766 126230766 C T SNP HEG1 NM_020733 human genbank 54_36p -1 validated silent c.573 p.E191 0 NULL "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors HPS3 84343 hgsc.bcm.edu 36 3 150351082 150351082 + Silent SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 150351082 150351082 C T SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed silent c.1170 p.N390 1 NULL NULL - no_errors HPS3 84343 hgsc.bcm.edu 36 3 150368429 150368429 + Silent SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 150368429 150368429 G A SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed silent c.2856 p.E952 0.05 NULL NULL - no_errors HRG 3273 hgsc.bcm.edu 36 3 187872125 187872125 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 187872125 187872125 T G SNP HRG NM_000412 human genbank 54_36p 1 reviewed missense c.411 p.N137K 0.45 HMMSmart_SM00043 "HMMSmart_SM00043,HMMPfam_Cystatin,superfamily_Cystatin/monellin" - no_errors HRH1 3269 hgsc.bcm.edu 36 3 11275790 11275790 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 11275790 11275790 G T SNP HRH1 NM_000861 human genbank 54_36p 1 reviewed missense c.67 p.A23S 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HYAL3 8372 hgsc.bcm.edu 36 3 50307888 50307888 + Silent SNP C C G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 50307888 50307888 C G SNP HYAL3 NM_003549 human genbank 54_36p -1 reviewed silent c.150 p.L50 0.99 "HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases,PatternScan_EGF_1,PatternScan_EGF_2" - no_errors IFRD2 7866 hgsc.bcm.edu 36 3 50302845 50302845 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 50302845 50302845 C G SNP IFRD2 NM_006764 human genbank 54_36p -1 validated missense c.241 p.V81L 1 "HMMPfam_IFRD,superfamily_ARM-type_fold" "HMMPfam_IFRD,superfamily_ARM-type_fold,HMMPfam_IFRD_C" - no_errors IGSF10 285313 hgsc.bcm.edu 36 3 152638411 152638411 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 152638411 152638411 C T SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.6628 p.E2210K 0.98 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_I-set,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_ig" - no_errors IGSF10 285313 hgsc.bcm.edu 36 3 152646065 152646065 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 152646065 152646065 A T SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.4394 p.F1465Y 0.18 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors IL17RC 84818 hgsc.bcm.edu 36 3 9937623 9937623 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 9937623 9937623 G A SNP IL17RC NM_153461 human genbank 54_36p 1 reviewed missense c.805 p.E269K 0.64 NULL HMMPfam_SEFIR - no_errors IL17RC 84818 hgsc.bcm.edu 36 3 9949300 9949300 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 9949300 9949300 A G SNP IL17RC NM_153461 human genbank 54_36p 1 reviewed missense c.1609 p.K537E 0.98 NULL HMMPfam_SEFIR - no_errors IL17RD 54756 hgsc.bcm.edu 36 3 57110354 57110354 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 57110354 57110354 G - DEL IL17RD NM_017563 human genbank 54_36p -1 validated frame_shift_del c.961 p.R321fs 1 NULL HMMPfam_SEFIR "(deletion:cds_exon[57110247,57110431])" no_errors IL20RB 53833 hgsc.bcm.edu 36 3 138191004 138191004 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 138191004 138191004 C T SNP IL20RB NM_144717 human genbank 54_36p 1 validated silent c.438 p.T146 0.04 superfamily_Fibronectin type III "HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors IMPG2 50939 hgsc.bcm.edu 36 3 102447416 102447416 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 102447416 102447416 G C SNP IMPG2 NM_016247 human genbank 54_36p -1 validated missense c.1463 p.S488C 1 NULL "superfamily_SEA domain,HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors IMPG2 50939 hgsc.bcm.edu 36 3 102521134 102521134 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 102521134 102521134 C G SNP IMPG2 NM_016247 human genbank 54_36p -1 validated missense c.318 p.K106N 1 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_2,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors IQCF1 132141 hgsc.bcm.edu 36 3 51904143 51904143 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 51904143 51904143 G A SNP IQCF1 NM_152397 human genbank 54_36p -1 provisional missense c.421 p.R141C 0.01 "HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors IRAK2 3656 hgsc.bcm.edu 36 3 10258843 10258843 + Silent SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 10258843 10258843 G A SNP IRAK2 NM_001570 human genbank 54_36p 1 reviewed silent c.1809 p.R603 1 NULL "PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_ATP,superfamily_DEATH_like,HMMPfam_Death,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors ITIH4 3700 hgsc.bcm.edu 36 3 52823078 52823078 + Silent SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 52823078 52823078 G A SNP ITIH4 NM_002218 human genbank 54_36p -1 validated silent c.2676 p.D892 0 HMMPfam_ITI_HC_C "HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors ITIH4 3700 hgsc.bcm.edu 36 3 52827536 52827536 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 52827536 52827536 T C SNP ITIH4 NM_002218 human genbank 54_36p -1 validated missense c.2134 p.M712V 0 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00609,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_vWA-like" - no_errors ITPR1 3708 hgsc.bcm.edu 36 3 4817273 4817273 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 4817273 4817273 G A SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated missense c.6952 p.G2318S 1 NULL "HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors ITPR1 3708 hgsc.bcm.edu 36 3 4828092 4828092 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 4828092 4828092 G C SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated missense c.7272 p.K2424N 1 HMMPfam_Ion_trans "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors JAGN1 84522 hgsc.bcm.edu 36 3 9909740 9909740 + Silent SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 9909740 9909740 G A SNP JAGN1 NM_032492 human genbank 54_36p 1 validated silent c.231 p.P77 0.96 HMMPfam_DUF1352 HMMPfam_DUF1352 - no_errors KALRN 8997 hgsc.bcm.edu 36 3 125692410 125692410 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 125692410 125692410 A G SNP KALRN NM_001024660 human genbank 54_36p 1 reviewed missense c.4570 p.N1524D 1 "superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_PH" ############################################################################################################################################################################################################################################################### - no_errors KAT2B 8850 hgsc.bcm.edu 36 3 20111785 20111785 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 20111785 20111785 G A SNP KAT2B NM_003884 human genbank 54_36p 1 reviewed missense c.457 p.V153M 1 HMMPfam_PCAF_N "HMMPfam_PCAF_N,superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors KCNAB1 7881 hgsc.bcm.edu 36 3 157716844 157716844 + Silent SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 157716844 157716844 G A SNP KCNAB1 NM_172160 human genbank 54_36p 1 reviewed silent c.957 p.L319 1 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" - no_errors KCNH8 131096 hgsc.bcm.edu 36 3 19529731 19529732 + Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 19529731 19529732 - C INS KCNH8 NM_144633 human genbank 54_36p 1 reviewed frame_shift_ins c.2345_2346 p.N785fs 0.105:0.007 NULL "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" - no_errors KIAA0226 9711 hgsc.bcm.edu 36 3 198893168 198893168 + Splice_Site SNP C C T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 198893168 198893168 C T SNP KIAA0226 NM_014687 human genbank 54_36p -1 predicted splice_site c.2127-1 e15-1 1 - - - no_errors KIAA2018 205717 hgsc.bcm.edu 36 3 114860172 114860172 + Frame_Shift_Del DEL T T - novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 114860172 114860172 T - DEL KIAA2018 NM_001009899 human genbank 54_36p -1 validated frame_shift_del c.3047 p.N1016fs 0.39 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" "(deletion:cds_exon[114856481,114862962])" no_errors KIAA2018 205717 hgsc.bcm.edu 36 3 114860516 114860516 + Silent SNP A A G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 114860516 114860516 A G SNP KIAA2018 NM_001009899 human genbank 54_36p -1 validated silent c.2703 p.H901 0.98 NULL "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" - no_errors KLF15 28999 hgsc.bcm.edu 36 3 127554211 127554211 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 127554211 127554211 G C SNP KLF15 NM_014079 human genbank 54_36p -1 validated missense c.245 p.S82C 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LAMB2 3913 hgsc.bcm.edu 36 3 49144735 49144735 + Silent SNP C C A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 49144735 49144735 C A SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed silent c.357 p.R119 0.09 "HMMSmart_LamNT,HMMPfam_Laminin_N" "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors LEPREL1 55214 hgsc.bcm.edu 36 3 191320738 191320738 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 191320738 191320738 G C SNP LEPREL1 NM_018192 human genbank 54_36p -1 validated missense c.477 p.I159M 0.9 superfamily_TPR-like "superfamily_TPR-like,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy,PatternScan_ER_TARGET" - no_errors LHFPL4 375323 hgsc.bcm.edu 36 3 9518917 9518917 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 9518917 9518917 A T SNP LHFPL4 NM_198560 human genbank 54_36p -1 reviewed missense c.722 p.V241E 0.96 NULL HMMPfam_L_HGMIC_fpl - no_errors LHFPL4 375323 hgsc.bcm.edu 36 3 9522725 9522725 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 9522725 9522725 A T SNP LHFPL4 NM_198560 human genbank 54_36p -1 reviewed missense c.569 p.L190H 1 HMMPfam_L_HGMIC_fpl HMMPfam_L_HGMIC_fpl - no_errors LIMD1 8994 hgsc.bcm.edu 36 3 45611883 45611883 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 45611883 45611883 G T SNP LIMD1 NM_014240 human genbank 54_36p 1 validated missense c.508 p.D170Y 0.24 NULL "HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors LRRC15 131578 hgsc.bcm.edu 36 3 195561407 195561407 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 195561407 195561407 G C SNP LRRC15 NM_130830 human genbank 54_36p -1 validated missense c.1661 p.S554C 0.97 NULL "superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT" - no_errors LRRC15 131578 hgsc.bcm.edu 36 3 195562155 195562155 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 195562155 195562155 T C SNP LRRC15 NM_130830 human genbank 54_36p -1 validated missense c.913 p.I305V 0.99 "HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors MAGI1 9223 hgsc.bcm.edu 36 3 65317620 65317620 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 65317620 65317620 T C SNP MAGI1 NM_001033057 human genbank 54_36p -1 reviewed missense c.3862 p.K1288E 0.15 NULL ############################################################################################################################################################################################################################################################### - no_errors MAP4 4134 hgsc.bcm.edu 36 3 48015308 48015308 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 48015308 48015308 T A SNP MAP4 NM_002375 human genbank 54_36p -1 reviewed missense c.47 p.D16V 1 NULL "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP" - no_errors MBD4 8930 hgsc.bcm.edu 36 3 130634717 130634717 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 130634717 130634717 C G SNP MBD4 NM_003925 human genbank 54_36p -1 reviewed missense c.1475 p.R492T 0.94 "superfamily_DNA-glycosylase,HMMPfam_HhH-GPD" "superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-glycosylase,HMMPfam_HhH-GPD" - no_errors MCCC1 56922 hgsc.bcm.edu 36 3 184237749 184237749 + Silent SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 184237749 184237749 G A SNP MCCC1 NM_020166 human genbank 54_36p -1 reviewed silent c.1545 p.L515 1 NULL "HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_2,superfamily_Rudmnt_hyb_motif,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_BIOTIN" - no_errors MCM2 4171 hgsc.bcm.edu 36 3 128806515 128806515 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 128806515 128806515 A G SNP MCM2 NM_004526 human genbank 54_36p 1 reviewed missense c.499 p.M167V 1 NULL "superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,PatternScan_MCM_1" - no_errors MCM2 4171 hgsc.bcm.edu 36 3 128822333 128822333 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 128822333 128822333 G A SNP MCM2 NM_004526 human genbank 54_36p 1 reviewed missense c.2368 p.D790N 1 "HMMPfam_MCM,HMMSmart_MCM,superfamily_SSF52540" "HMMPfam_MCM,HMMSmart_MCM,superfamily_Nucleic_acid_OB,PatternScan_MCM_1,superfamily_SSF52540" - no_errors MFN1 55669 hgsc.bcm.edu 36 3 180564867 180564867 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 180564867 180564867 G A SNP MFN1 NM_033540 human genbank 54_36p 1 reviewed missense c.625 p.E209K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin" - no_errors MORC1 27136 hgsc.bcm.edu 36 3 110206787 110206787 + Silent SNP G G A novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 110206787 110206787 G A SNP MORC1 NM_014429 human genbank 54_36p -1 reviewed silent c.1833 p.S611 0.03 NULL "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMPfam_zf-CW" - no_errors MRPS22 56945 hgsc.bcm.edu 36 3 140552585 140552585 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 140552585 140552585 A G SNP MRPS22 NM_020191 human genbank 54_36p 1 reviewed missense c.725 p.Y242C 1 HMMPfam_MRP-S22 HMMPfam_MRP-S22 - no_errors MST1R 4486 hgsc.bcm.edu 36 3 49909996 49909996 + Silent SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 49909996 49909996 C A SNP MST1R NM_002447 human genbank 54_36p -1 validated silent c.2007 p.R669 0 "HMMSmart_SM00429,HMMPfam_TIG" ############################################################################################################################################################################################################################################################### - no_errors MYH15 22989 hgsc.bcm.edu 36 3 109606965 109606965 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 109606965 109606965 T A SNP MYH15 NM_014981 human genbank 54_36p -1 validated missense c.4706 p.K1569M 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat" - no_errors MYLK 4638 hgsc.bcm.edu 36 3 124995347 124995347 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 124995347 124995347 T C SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.32 p.H11R 0.01 NULL ############################################################################################################################################################################################################################################################### - no_errors NKTR 4820 hgsc.bcm.edu 36 3 42655651 42655651 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 42655651 42655651 G A SNP NKTR NM_005385 human genbank 54_36p 1 reviewed missense c.3451 p.A1151T 0 NULL "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors NMD3 51068 hgsc.bcm.edu 36 3 162435608 162435608 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 162435608 162435608 T A SNP NMD3 NM_015938 human genbank 54_36p 1 provisional nonsense c.491 p.L164* 0.98 HMMPfam_NMD3 HMMPfam_NMD3 - no_errors NR1I2 8856 hgsc.bcm.edu 36 3 121014352 121014352 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 121014352 121014352 G T SNP NR1I2 NM_022002 human genbank 54_36p 1 reviewed missense c.766 p.G256W 0.99 superfamily_Str_ncl_receptor "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors NUP210 23225 hgsc.bcm.edu 36 3 13334231 13334231 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 13334231 13334231 T A SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed nonsense c.5614 p.K1872* 0.75 NULL "superfamily_Invasin/intimin cell-adhesion fragments,HMMPfam_Big_2,HMMSmart_SM00635" - no_errors NUP210 23225 hgsc.bcm.edu 36 3 13339842 13339842 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 13339842 13339842 C A SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed missense c.4735 p.V1579F 0.01 NULL "HMMPfam_Big_2,HMMSmart_SM00635,superfamily_Invasin/intimin cell-adhesion fragments" - no_errors OSBPL11 114885 hgsc.bcm.edu 36 3 126753982 126753982 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 126753982 126753982 T C SNP OSBPL11 NM_022776 human genbank 54_36p -1 reviewed missense c.1387 p.M463V 1 HMMPfam_Oxysterol_BP "superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_PH,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors OXSR1 9943 hgsc.bcm.edu 36 3 38240307 38240307 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 38240307 38240307 G T SNP OXSR1 NM_005109 human genbank 54_36p 1 reviewed missense c.601 p.V201F 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors PARP3 10039 hgsc.bcm.edu 36 3 51956865 51956865 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 51956865 51956865 A T SNP PARP3 NM_001003931 human genbank 54_36p 1 reviewed missense c.1367 p.E456V 1 "superfamily_SSF56399,HMMPfam_PARP" "HMMPfam_WGR,HMMSmart_WGR,superfamily_PARP_reg,HMMPfam_PARP_reg,superfamily_SSF56399,HMMPfam_PARP" - no_errors PBRM1 55193 hgsc.bcm.edu 36 3 52660820 52660820 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 52660820 52660820 T C SNP PBRM1 NM_018165 human genbank 54_36p -1 validated missense c.692 p.K231R 1 "superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" "superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_BAH,HMMSmart_BAH,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors PBRM1 55193 hgsc.bcm.edu 36 3 52667321 52667321 + Silent SNP T T G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 52667321 52667321 T G SNP PBRM1 NM_018165 human genbank 54_36p -1 validated silent c.579 p.I193 0.99 "HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain" "HMMPfam_HMG_box,HMMSmart_HMG,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,superfamily_HMG-box,PatternScan_BROMODOMAIN_1" - no_errors PCCB 5096 hgsc.bcm.edu 36 3 137531521 137531535 + In_Frame_Del DEL AACGTCCTTGGAGAA AACGTCCTTGGAGAA - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 AACGTCCTTGGAGAA AACGTCCTTGGAGAA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 137531521 137531535 AACGTCCTTGGAGAA - DEL PCCB NM_000532 human genbank 54_36p 1 reviewed in_frame_del c.1583_1597 p.RPWRK529in_frame_del 0.981:0.967:0.982:0.990:0.989:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_SSF52096,HMMPfam_Carboxyl_trans" "superfamily_SSF52096,HMMPfam_Carboxyl_trans" "(deletion:cds_exon[137531437,137531558])" no_errors PDCD6IP 10015 hgsc.bcm.edu 36 3 33852627 33852627 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 33852627 33852627 C G SNP PDCD6IP NM_013374 human genbank 54_36p 1 reviewed missense c.922 p.L308V 1 HMMPfam_BRO1 HMMPfam_BRO1 - no_errors PDE12 201626 hgsc.bcm.edu 36 3 57517547 57517547 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 57517547 57517547 A T SNP PDE12 NM_177966 human genbank 54_36p 1 validated missense c.401 p.E134V 1 NULL "HMMPfam_Exo_endo_phos,superfamily_DNase I-like" - no_errors PDE12 201626 hgsc.bcm.edu 36 3 57517956 57517956 + Silent SNP A A C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 57517956 57517956 A C SNP PDE12 NM_177966 human genbank 54_36p 1 validated silent c.810 p.V270 1 NULL "HMMPfam_Exo_endo_phos,superfamily_DNase I-like" - no_errors PDE12 201626 hgsc.bcm.edu 36 3 57517972 57517972 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 57517972 57517972 A T SNP PDE12 NM_177966 human genbank 54_36p 1 validated missense c.826 p.T276S 0.99 NULL "HMMPfam_Exo_endo_phos,superfamily_DNase I-like" - no_errors PEX5L 51555 hgsc.bcm.edu 36 3 181074906 181074906 + Splice_Site SNP C C G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 181074906 181074906 C G SNP PEX5L NM_016559 human genbank 54_36p -1 provisional splice_site c.630-1 e7-1 1 - - - no_errors PIGZ 80235 hgsc.bcm.edu 36 3 198159623 198159623 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 198159623 198159623 T A SNP PIGZ NM_025163 human genbank 54_36p -1 reviewed missense c.542 p.E181V 1 HMMPfam_Glyco_transf_22 HMMPfam_Glyco_transf_22 - no_errors PIK3R4 30849 hgsc.bcm.edu 36 3 131905315 131905315 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 131905315 131905315 C A SNP PIK3R4 NM_014602 human genbank 54_36p -1 validated missense c.3040 p.D1014Y 1 "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM-type_fold,HMMPfam_HEAT,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors PIK3R4 30849 hgsc.bcm.edu 36 3 131908665 131908665 + Silent SNP T T C novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 131908665 131908665 T C SNP PIK3R4 NM_014602 human genbank 54_36p -1 validated silent c.2538 p.R846 0.99 superfamily_WD40_like "HMMPfam_HEAT,HMMPfam_Pkinase_Tyr,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors PIK3R4 30849 hgsc.bcm.edu 36 3 131946116 131946116 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 131946116 131946116 C G SNP PIK3R4 NM_014602 human genbank 54_36p -1 validated missense c.637 p.E213Q 1 "HMMPfam_Pkinase_Tyr,superfamily_Kinase_like" "HMMPfam_HEAT,HMMPfam_Pkinase_Tyr,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors PLCH1 23007 hgsc.bcm.edu 36 3 156715336 156715336 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 156715336 156715336 G T SNP PLCH1 NM_014996 human genbank 54_36p -1 validated missense c.1412 p.S471Y 1 superfamily_PLC-like_Pdiesterase_TIM-brl ############################################################################################################################################################################################################################################################### - no_errors PLSCR1 5359 hgsc.bcm.edu 36 3 147729140 147729140 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 147729140 147729140 G A SNP PLSCR1 NM_021105 human genbank 54_36p -1 validated missense c.263 p.A88V 0.99 HMMPfam_Scramblase HMMPfam_Scramblase - no_errors PPP2R3A 5523 hgsc.bcm.edu 36 3 137228537 137228537 + Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 137228537 137228537 T A SNP PPP2R3A NM_002718 human genbank 54_36p 1 reviewed missense c.2169 p.S723R 0.99 superfamily_EF-hand "superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors PRICKLE2 166336 hgsc.bcm.edu 36 3 64059776 64059776 + Silent SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 64059776 64059776 G A SNP PRICKLE2 NM_198859 human genbank 54_36p -1 validated silent c.2526 p.I842 1 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors PRICKLE2 166336 hgsc.bcm.edu 36 3 64108040 64108040 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 64108040 64108040 T A SNP PRICKLE2 NM_198859 human genbank 54_36p -1 validated missense c.1166 p.N389I 1 NULL "HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_PET,superfamily_SSF57716" - no_errors PRKAR2A 5576 hgsc.bcm.edu 36 3 48764620 48764620 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 48764620 48764620 T G SNP PRKAR2A NM_004157 human genbank 54_36p -1 reviewed missense c.1074 p.K358N 1 "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" "superfamily_cAMP-dep_prot_kin_reg_I/II_a/b,HMMPfam_RIIa,HMMSmart_RIIa,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors PRKCI 5584 hgsc.bcm.edu 36 3 171496413 171496413 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 C C C T C C Unknown Valid Somatic Phase_IV Capture SOLID SOLID 3 171496413 171496413 C T SNP PRKCI NM_002740 human genbank 54_36p 1 reviewed missense c.1438 p.R480C 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PTPRG 5793 hgsc.bcm.edu 36 3 62117807 62117807 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 62117807 62117807 G T SNP PTPRG NM_002841 human genbank 54_36p 1 reviewed missense c.709 p.V237F 1 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors QARS 5859 hgsc.bcm.edu 36 3 49112485 49112485 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 49112485 49112485 C T SNP QARS NM_005051 human genbank 54_36p -1 reviewed missense c.1208 p.R403Q 0.99 "superfamily_SSF52374,HMMPfam_tRNA-synt_1c" "HMMPfam_tRNA_synt_1c_R1,HMMPfam_tRNA_synt_1c_R2,superfamily_SSF52374,HMMPfam_tRNA-synt_1c,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1c_C,superfamily_Ribosomal_L25rel" - no_errors RHOA 387 hgsc.bcm.edu 36 3 49387977 49387977 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 49387977 49387977 C A SNP RHOA NM_001664 human genbank 54_36p -1 validated missense c.50 p.G17V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174" - no_errors RTP1 132112 hgsc.bcm.edu 36 3 188400128 188400128 + Missense_Mutation SNP T C C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 188400128 188400128 T C SNP RTP1 NM_153708 human genbank 54_36p 1 validated missense c.368 p.V123A 1 NULL NULL - no_errors SACM1L 22908 hgsc.bcm.edu 36 3 45726053 45726053 + Silent SNP T T C novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 45726053 45726053 T C SNP SACM1L NM_014016 human genbank 54_36p 1 validated silent c.393 p.F131 1 HMMPfam_Syja_N HMMPfam_Syja_N - no_errors SCAP 22937 hgsc.bcm.edu 36 3 47459376 47459376 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A C C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 47459376 47459376 A C SNP SCAP NM_012235 human genbank 54_36p -1 reviewed missense c.112 p.L38V 1 NULL "superfamily_Multidrug efflux transporter AcrB transmembrane domain,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors SCN11A 11280 hgsc.bcm.edu 36 3 38864043 38864043 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 38864043 38864043 T A SNP SCN11A NM_014139 human genbank 54_36p -1 validated missense c.4522 p.M1508L 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc" - no_errors SCN11A 11280 hgsc.bcm.edu 36 3 38896586 38896586 + Silent SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 38896586 38896586 G C SNP SCN11A NM_014139 human genbank 54_36p -1 validated silent c.3252 p.P1084 0 superfamily_Voltage-gated potassium channels "HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN5A 6331 hgsc.bcm.edu 36 3 38570913 38570913 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 38570913 38570913 G - DEL SCN5A NM_001099404 human genbank 54_36p -1 reviewed frame_shift_del c.4674 p.N1558fs 1 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ" "(deletion:cds_exon[38570774,38571044])" no_errors SCN5A 6331 hgsc.bcm.edu 36 3 38626341 38626341 + Silent SNP G G T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 38626341 38626341 G T SNP SCN5A NM_001099404 human genbank 54_36p -1 reviewed silent c.822 p.G274 0.99 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN5A 6331 hgsc.bcm.edu 36 3 38626347 38626347 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 38626347 38626347 G T SNP SCN5A NM_001099404 human genbank 54_36p -1 reviewed missense c.816 p.F272L 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SEMA5B 54437 hgsc.bcm.edu 36 3 124125229 124125229 + Silent SNP G G A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 124125229 124125229 G A SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated silent c.1197 p.F399 1 "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors SETD2 29072 hgsc.bcm.edu 36 3 47137595 47137595 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 47137595 47137595 C G SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.2026 p.D676H 0.65 NULL "superfamily_Ferritin/RR_like,superfamily_SSF82199,HMMSmart_AWS,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_SRI_2" - no_errors SFMBT1 51460 hgsc.bcm.edu 36 3 52935168 52935168 + Silent SNP G G A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 52935168 52935168 G A SNP SFMBT1 NM_001005158 human genbank 54_36p -1 reviewed silent c.1050 p.G350 1 "superfamily_Tudor/PWWP/MBT,HMMPfam_MBT" "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors SGEF 26084 hgsc.bcm.edu 36 3 155426382 155426382 + Silent SNP A A G novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 155426382 155426382 A G SNP uc003ezv.1 ENST00000356448 human ensembl 54_36p 1 known silent c.1983 p.E661 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" - no_errors SHQ1 55164 hgsc.bcm.edu 36 3 72949148 72949148 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 72949148 72949148 G T SNP SHQ1 NM_018130 human genbank 54_36p -1 validated missense c.805 p.R269S 0.06 HMMPfam_SHQ1 "superfamily_HSP20_chap,HMMPfam_CS,HMMPfam_SHQ1" - no_errors SIAH2 6478 hgsc.bcm.edu 36 3 151942737 151942737 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 151942737 151942737 C T SNP SIAH2 NM_005067 human genbank 54_36p -1 reviewed missense c.856 p.G286S 1 "HMMPfam_Sina,superfamily_Traf_like" "PatternScan_ZF_RING_1,superfamily_SSF57850,HMMSmart_RING,HMMPfam_Sina,superfamily_Traf_like" - no_errors SLC35A5 55032 hgsc.bcm.edu 36 3 113782516 113782516 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 113782516 113782516 A G SNP SLC35A5 NM_017945 human genbank 54_36p 1 provisional missense c.862 p.S288G 0.36 HMMPfam_Nuc_sug_transp "superfamily_SSF103481,HMMPfam_Nuc_sug_transp" - no_errors SLC4A7 9497 hgsc.bcm.edu 36 3 27465245 27465245 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 27465245 27465245 T A SNP SLC4A7 NM_003615 human genbank 54_36p -1 validated missense c.163 p.S55C 1 NULL "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC4A7 9497 hgsc.bcm.edu 36 3 27473170 27473170 + Silent SNP T T C novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 27473170 27473170 T C SNP SLC4A7 NM_003615 human genbank 54_36p -1 validated silent c.9 p.R3 0.98 NULL "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein" - no_errors SLC6A20 54716 hgsc.bcm.edu 36 3 45776362 45776362 + Silent SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 45776362 45776362 G A SNP SLC6A20 NM_020208 human genbank 54_36p -1 reviewed silent c.1620 p.D540 0.96 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLC6A20 54716 hgsc.bcm.edu 36 3 45798696 45798696 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 45798696 45798696 T G SNP SLC6A20 NM_020208 human genbank 54_36p -1 reviewed missense c.145 p.I49L 0.99 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLC7A14 57709 hgsc.bcm.edu 36 3 171681274 171681274 + Silent SNP C C T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 171681274 171681274 C T SNP SLC7A14 NM_020949 human genbank 54_36p -1 validated silent c.1491 p.G497 0.38 NULL HMMPfam_AA_permease - no_errors SR140 23350 hgsc.bcm.edu 36 3 144236469 144236469 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 144236469 144236469 C T SNP SR140 NM_001080415 human genbank 54_36p 1 provisional missense c.1903 p.R635C 1 "superfamily_ENTH/VHS domain,HMMSmart_SM00582" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,superfamily_ENTH/VHS domain,HMMSmart_SM00582" - no_errors SRPRB 58477 hgsc.bcm.edu 36 3 135012709 135012709 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 135012709 135012709 T C SNP SRPRB NM_021203 human genbank 54_36p 1 reviewed missense c.386 p.L129S 1 "HMMPfam_SRPRB,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SRPRB,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors STXBP5L 9515 hgsc.bcm.edu 36 3 122111127 122111127 + Silent SNP T T C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 122111127 122111127 T C SNP STXBP5L NM_014980 human genbank 54_36p 1 validated silent c.12 p.F4 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1,HMMPfam_WD40,HMMPfam_LLGL" - no_errors TBCCD1 55171 hgsc.bcm.edu 36 3 187759049 187759049 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 187759049 187759049 C A SNP TBCCD1 NM_018138 human genbank 54_36p -1 validated missense c.343 p.V115L 1 NULL "HMMPfam_TBCC,HMMSmart_CARP" - no_errors TFRC 7037 hgsc.bcm.edu 36 3 197266559 197266559 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 197266559 197266559 T C SNP TFRC NM_003234 human genbank 54_36p -1 validated missense c.1688 p.Y563C 0.8 superfamily_Zn-dependent exopeptidases "superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" - no_errors TGFBR2 7048 hgsc.bcm.edu 36 3 30688465 30688465 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 30688465 30688465 G C SNP TGFBR2 NM_001024847 human genbank 54_36p 1 reviewed missense c.861 p.K287N 1 "HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" "HMMPfam_ecTbetaR2,superfamily_Snake toxin-like,HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TIPARP 25976 hgsc.bcm.edu 36 3 157878713 157878724 + In_Frame_Del DEL TAGACAAAGTCA TAGACAAAGTCA - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 TAGACAAAGTCA TAGACAAAGTCA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 157878713 157878724 TAGACAAAGTCA - DEL TIPARP NM_015508 human genbank 54_36p 1 provisional in_frame_del c.533_544 p.KVID180in_frame_del 0.865:0.891:0.979:0.980:0.978:0.990:0.992:0.990:0.987:0.985:0.947:0.956 NULL "HMMPfam_zf-CCCH,superfamily_SSF56399,HMMPfam_PARP" "(deletion:cds_exon[157878181,157879097])" no_errors TKT 7086 hgsc.bcm.edu 36 3 53235821 53235821 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 53235821 53235821 A C SNP TKT NM_001064 human genbank 54_36p -1 validated missense c.1687 p.Y563D 1 "superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transketolase_N,PatternScan_TRANSKETOLASE_1,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" - no_errors TKT 7086 hgsc.bcm.edu 36 3 53238390 53238390 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 53238390 53238390 C T SNP TKT NM_001064 human genbank 54_36p -1 validated missense c.1210 p.A404T 1 "HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding)" "HMMPfam_Transketolase_N,PatternScan_TRANSKETOLASE_1,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding)" - no_errors TMEM39A 55254 hgsc.bcm.edu 36 3 120633692 120633692 + Silent SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 120633692 120633692 G A SNP TMEM39A NM_018266 human genbank 54_36p -1 provisional silent c.1293 p.V431 0.97 HMMPfam_Tmp39 HMMPfam_Tmp39 - no_errors TNIK 23043 hgsc.bcm.edu 36 3 172428700 172428700 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 172428700 172428700 C G SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.128 p.R43P 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH" - no_errors TNK2 10188 hgsc.bcm.edu 36 3 197096239 197096239 + Silent SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 197096239 197096239 C T SNP TNK2 NM_001010938 human genbank 54_36p -1 reviewed silent c.486 p.R162 0.99 NULL "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_GTPase_binding" - no_errors TOMM70A 9868 hgsc.bcm.edu 36 3 101587814 101587814 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 101587814 101587814 T G SNP TOMM70A NM_014820 human genbank 54_36p -1 validated missense c.563 p.K188T 1 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMPfam_TPR_2" - no_errors TOPBP1 11073 hgsc.bcm.edu 36 3 134841559 134841559 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 134841559 134841559 C G SNP TOPBP1 NM_007027 human genbank 54_36p -1 reviewed missense c.1906 p.E636Q 1 "HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT" "superfamily_BRCT,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_Secretoglobin" - no_errors TRH 7200 hgsc.bcm.edu 36 3 131178462 131178462 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 131178462 131178462 G T SNP TRH NM_007117 human genbank 54_36p 1 validated missense c.442 p.V148F 0 HMMPfam_TRH HMMPfam_TRH - no_errors TRIM42 287015 hgsc.bcm.edu 36 3 141889473 141889473 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 141889473 141889473 T C SNP TRIM42 NM_152616 human genbank 54_36p 1 reviewed missense c.1259 p.V420A 0.01 NULL "PatternScan_TNFR_NGFR_1,superfamily_RING/U-box,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors TRIM42 287015 hgsc.bcm.edu 36 3 141892504 141892504 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 141892504 141892504 A C SNP TRIM42 NM_152616 human genbank 54_36p 1 reviewed missense c.1865 p.Y622S 1 "HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_zf-B_box,HMMSmart_SM00336,PatternScan_TNFR_NGFR_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors TRIM59 286827 hgsc.bcm.edu 36 3 161639062 161639062 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 161639062 161639062 T - DEL TRIM59 NM_173084 human genbank 54_36p -1 validated frame_shift_del c.604 p.S202fs 0 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain" "(deletion:cds_exon[161638454,161639665])" no_errors TRIM71 131405 hgsc.bcm.edu 36 3 32890468 32890468 + Frame_Shift_Del DEL G G - novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G - G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 32890468 32890468 G - DEL TRIM71 NM_001039111 human genbank 54_36p 1 provisional frame_shift_del c.1007 p.R336fs 1 NULL "HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_Filamin,HMMSmart_IG_FLMN,superfamily_Ig_E-set,superfamily_SSF101898,HMMPfam_NHL" "(deletion:cds_exon[32890314,32890481])" no_errors TRIM71 131405 hgsc.bcm.edu 36 3 32907173 32907173 + Silent SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 32907173 32907173 C T SNP TRIM71 NM_001039111 human genbank 54_36p 1 provisional silent c.1473 p.G491 0.85 "HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin" "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_NHL,HMMSmart_IG_FLMN,HMMSmart_RING,superfamily_Ig_E-set,HMMPfam_Filamin,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF101898" - no_errors TTLL3 26140 hgsc.bcm.edu 36 3 9843888 9843888 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 9843888 9843888 T C SNP TTLL3 NM_001025930 human genbank 54_36p 1 provisional missense c.1082 p.F361S 1 "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors TXNDC6 347736 hgsc.bcm.edu 36 3 139505158 139505158 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 139505158 139505158 C T SNP TXNDC6 NM_178130 human genbank 54_36p -1 provisional missense c.626 p.G209D 1 "HMMPfam_NDK,superfamily_NDK,HMMSmart_NDK" "superfamily_Thiordxn-like_fd,PatternScan_THIOREDOXIN_1,HMMPfam_NDK,superfamily_NDK,HMMSmart_NDK" - no_errors UBP1 7342 hgsc.bcm.edu 36 3 33425224 33425224 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 33425224 33425224 G A SNP UBP1 NM_014517 human genbank 54_36p -1 validated missense c.889 p.P297S 1 NULL "HMMPfam_CP2,superfamily_SAM/Pointed domain" - no_errors ULK4 54986 hgsc.bcm.edu 36 3 41472020 41472020 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 41472020 41472020 G A SNP ULK4 NM_017886 human genbank 54_36p -1 validated missense c.3464 p.T1155I 1 superfamily_ARM-type_fold "PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,superfamily_ARM-type_fold" - no_errors ULK4 54986 hgsc.bcm.edu 36 3 41835989 41835989 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 41835989 41835989 T - DEL ULK4 NM_017886 human genbank 54_36p -1 validated frame_shift_del c.1778 p.K593fs 1 superfamily_ARM-type_fold "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "(deletion:cds_exon[41835919,41836002])" no_errors UQCRC1 7384 hgsc.bcm.edu 36 3 48613215 48613215 + Silent SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 48613215 48613215 G C SNP UQCRC1 NM_003365 human genbank 54_36p -1 validated silent c.1029 p.T343 1 "HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase" "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16,HMMPfam_Peptidase_M16_C" - no_errors USP4 7375 hgsc.bcm.edu 36 3 49312914 49312914 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 3 49312914 49312914 C G SNP USP4 NM_003363 human genbank 54_36p -1 validated missense c.1502 p.R501T 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMSmart_SM00695,HMMPfam_DUF1055,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors VILL 50853 hgsc.bcm.edu 36 3 38018307 38018308 + Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 38018307 38018308 - C INS VILL NM_015873 human genbank 54_36p 1 reviewed frame_shift_ins c.1431_1432 p.H479fs 1.000:1.000 "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin" "HMMSmart_SM00262,superfamily_Actin depolymerizing proteins,HMMPfam_Gelsolin,superfamily_C-terminal gelsolin-like domain of Sec23/24,PatternScan_CYTOCHROME_B5_1,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors WDR49 151790 hgsc.bcm.edu 36 3 168733444 168733444 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 168733444 168733444 T G SNP WDR49 NM_178824 human genbank 54_36p -1 provisional missense c.914 p.E305A 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WDR53 348793 hgsc.bcm.edu 36 3 197766020 197766020 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 197766020 197766020 T C SNP WDR53 NM_182627 human genbank 54_36p -1 provisional missense c.536 p.E179G 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors XIRP1 165904 hgsc.bcm.edu 36 3 39204941 39204941 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 39204941 39204941 C A SNP XIRP1 NM_194293 human genbank 54_36p -1 provisional missense c.1000 p.D334Y 0.4 NULL HMMPfam_Xin - no_errors XPC 7508 hgsc.bcm.edu 36 3 14175227 14175227 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 3 14175227 14175227 T G SNP XPC ENST00000285021 human ensembl 54_36p -1 known missense c.1160 p.K387T 0.16 NULL "HMMPfam_Rad4,HMMPfam_BHD_1,HMMPfam_BHD_2,HMMPfam_BHD_3" - no_errors XRN1 54464 hgsc.bcm.edu 36 3 143514209 143514209 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 143514209 143514209 T C SNP XRN1 NM_019001 human genbank 54_36p -1 validated missense c.4739 p.H1580R 0.88 NULL "HMMPfam_XRN_N,superfamily_dsRNA-binding domain-like" - no_errors XRN1 54464 hgsc.bcm.edu 36 3 143623024 143623024 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 143623024 143623024 A T SNP XRN1 NM_019001 human genbank 54_36p -1 validated missense c.1019 p.L340H 1 NULL "HMMPfam_XRN_N,superfamily_dsRNA-binding domain-like" - no_errors ZBTB11 27107 hgsc.bcm.edu 36 3 102853083 102853083 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 102853083 102853083 G A SNP ZBTB11 NM_014415 human genbank 54_36p -1 validated nonsense c.2779 p.R927* 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZDHHC23 254887 hgsc.bcm.edu 36 3 115155677 115155677 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 115155677 115155677 G T SNP ZDHHC23 NM_173570 human genbank 54_36p 1 validated missense c.602 p.G201V 0 NULL HMMPfam_zf-DHHC - no_errors ZIC1 7545 hgsc.bcm.edu 36 3 148613880 148613880 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 148613880 148613880 C G SNP ZIC1 NM_003412 human genbank 54_36p 1 validated missense c.1196 p.S399C 1 NULL "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZMAT3 64393 hgsc.bcm.edu 36 3 180227980 180227980 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 180227980 180227980 G A SNP ZMAT3 NM_022470 human genbank 54_36p -1 reviewed missense c.583 p.R195W 0.29 NULL "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2" - no_errors ZNF148 7707 hgsc.bcm.edu 36 3 126434866 126434866 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 126434866 126434866 T A SNP ZNF148 NM_021964 human genbank 54_36p -1 validated missense c.1394 p.D465V 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF445 353274 hgsc.bcm.edu 36 3 44467430 44467430 + Silent SNP A A G novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 44467430 44467430 A G SNP ZNF445 NM_181489 human genbank 54_36p -1 validated silent c.627 p.L209 0.05 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF654 55279 hgsc.bcm.edu 36 3 88272850 88272850 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 3 88272850 88272850 A C SNP ZNF654 NM_018293 human genbank 54_36p 1 validated missense c.1700 p.K567T 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ADD1 118 hgsc.bcm.edu 36 4 2898181 2898181 + Silent SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 2898181 2898181 A C SNP ADD1 NM_176801 human genbank 54_36p 1 reviewed silent c.1969 p.R657 1 NULL "superfamily_Aldolase_II_N,HMMPfam_Aldolase_II" - no_errors AFM 173 hgsc.bcm.edu 36 4 74572362 74572362 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 74572362 74572362 G T SNP AFM NM_001133 human genbank 54_36p 1 reviewed missense c.673 p.G225W 0.95 "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like" "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like,PatternScan_ALBUMIN" - no_errors ALB 213 hgsc.bcm.edu 36 4 74498093 74498093 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 74498093 74498093 C T SNP ALB NM_000477 human genbank 54_36p 1 reviewed silent c.936 p.H312 0.54 "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like" "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like,PatternScan_ALBUMIN" - no_errors ANK2 287 hgsc.bcm.edu 36 4 114398988 114398988 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 114398988 114398988 A G SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.1358 p.N453S 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors ANK2 287 hgsc.bcm.edu 36 4 114499583 114499584 + Frame_Shift_Ins INS - - G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 114499583 114499584 - G INS ANK2 NM_001148 human genbank 54_36p 1 reviewed frame_shift_ins c.10360_10361 p.T3457fs 0.019:0.001 NULL "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors ANKRD17 26057 hgsc.bcm.edu 36 4 74170001 74170001 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 74170001 74170001 C T SNP ANKRD17 NM_032217 human genbank 54_36p -1 reviewed missense c.6988 p.G2330S 1 NULL "HMMPfam_MutS_V,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors ANKRD17 26057 hgsc.bcm.edu 36 4 74175444 74175444 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 74175444 74175444 G C SNP ANKRD17 NM_032217 human genbank 54_36p -1 reviewed missense c.6765 p.S2255R 1 NULL "HMMPfam_MutS_V,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors ART3 419 hgsc.bcm.edu 36 4 77222084 77222084 + Silent SNP C C T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 77222084 77222084 C T SNP ART3 NM_001179 human genbank 54_36p 1 validated silent c.153 p.Y51 0.12 "superfamily_SSF56399,HMMPfam_ART" "superfamily_SSF56399,HMMPfam_ART,PatternScan_ART" - no_errors ART3 419 hgsc.bcm.edu 36 4 77222495 77222495 + Silent SNP A A T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 77222495 77222495 A T SNP ART3 NM_001179 human genbank 54_36p 1 validated silent c.564 p.S188 0 "HMMPfam_ART,superfamily_SSF56399" "HMMPfam_ART,PatternScan_ART,superfamily_SSF56399" - no_errors BMP2K 55589 hgsc.bcm.edu 36 4 80005744 80005744 + Silent SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 80005744 80005744 T C SNP BMP2K NM_198892 human genbank 54_36p 1 reviewed silent c.1077 p.D359 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" - no_errors BMPR1B 658 hgsc.bcm.edu 36 4 96244728 96244728 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 96244728 96244728 A T SNP BMPR1B NM_001203 human genbank 54_36p 1 reviewed missense c.130 p.N44Y 1 "HMMPfam_Activin_recp,superfamily_Snake toxin-like" "HMMPfam_Activin_recp,superfamily_Snake toxin-like,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BOD1L 259282 hgsc.bcm.edu 36 4 13210996 13210996 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 13210996 13210996 C T SNP BOD1L NM_148894 human genbank 54_36p -1 validated missense c.6626 p.S2209N 1 superfamily_SSF81995 "superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors BOD1L 259282 hgsc.bcm.edu 36 4 13221695 13221695 + Silent SNP A A G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 13221695 13221695 A G SNP BOD1L NM_148894 human genbank 54_36p -1 validated silent c.1452 p.S484 1 superfamily_SSF81995 "HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF81995" - no_errors C4orf14 84273 hgsc.bcm.edu 36 4 57525376 57525376 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 57525376 57525376 C A SNP C4orf14 NM_032313 human genbank 54_36p -1 provisional missense c.1838 p.G613V 0.01 NULL "superfamily_SSF52540,HMMPfam_MMR_HSR1" - no_errors FAM193A 8603 hgsc.bcm.edu 36 4 2666651 2666651 + Silent SNP C C A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 2666651 2666651 C A SNP C4orf8 NM_003704 human genbank 54_36p 1 validated silent c.2400 p.G800 0.93 NULL NULL - no_errors CCDC158 339965 hgsc.bcm.edu 36 4 77502321 77502321 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 77502321 77502321 C T SNP FLJ25770 NM_001042784 human genbank 54_36p -1 validated missense c.2002 p.E668K 0.08 NULL NULL - no_errors CCNG2 901 hgsc.bcm.edu 36 4 78304535 78304535 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 78304535 78304535 G C SNP CCNG2 NM_004354 human genbank 54_36p 1 reviewed missense c.790 p.D264H 1 NULL "superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_Cyclin_N" - no_errors CENPE 1062 hgsc.bcm.edu 36 4 104285137 104285137 + Silent SNP A A G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 104285137 104285137 A G SNP CENPE NM_001813 human genbank 54_36p -1 validated silent c.4945 p.L1649 0 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_AA_TRNA_LIGASE_I" - no_errors CNGA1 1259 hgsc.bcm.edu 36 4 47633854 47633854 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 47633854 47633854 C G SNP CNGA1 NM_000087 human genbank 54_36p -1 reviewed missense c.1414 p.D472H 1 superfamily_cAMP-binding domain-like "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors CNGA1 1259 hgsc.bcm.edu 36 4 47640057 47640057 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 47640057 47640057 G C SNP CNGA1 NM_000087 human genbank 54_36p -1 reviewed nonsense c.347 p.S116* 0.92 NULL "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cAMP-binding domain-like,superfamily_Voltage-gated potassium channels" - no_errors COQ2 27235 hgsc.bcm.edu 36 4 84407796 84407796 + Silent SNP G G A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 84407796 84407796 G A SNP COQ2 NM_015697 human genbank 54_36p -1 validated silent c.957 p.A319 0.49 HMMPfam_UbiA "HMMPfam_UbiA,PatternScan_UBIA" - no_errors CXCL13 10563 hgsc.bcm.edu 36 4 78748015 78748015 + Splice_Site SNP T T G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 78748015 78748015 T G SNP CXCL13 NM_006419 human genbank 54_36p 1 validated splice_site c.197+2 e2+2 1 - - - no_errors D4S234E 27065 hgsc.bcm.edu 36 4 4444175 4444175 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 4444175 4444175 G C SNP D4S234E NM_001040101 human genbank 54_36p 1 validated missense c.202 p.E68Q 1 HMMPfam_Calcyon HMMPfam_Calcyon - no_errors DCHS2 54798 hgsc.bcm.edu 36 4 155375228 155375228 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 155375228 155375228 C G SNP DCHS2 NM_017639 human genbank 54_36p -1 validated missense c.8661 p.L2887F 0.74 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DCHS2 54798 hgsc.bcm.edu 36 4 155525030 155525030 + Silent SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 155525030 155525030 G A SNP DCHS2 NM_017639 human genbank 54_36p -1 validated silent c.174 p.L58 0 superfamily_Cadherin-like "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors DCLK2 166614 hgsc.bcm.edu 36 4 151372943 151372943 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 151372943 151372943 A G SNP DCLK2 NM_001040260 human genbank 54_36p 1 validated missense c.1304 p.H435R 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DHX15 1665 hgsc.bcm.edu 36 4 24152731 24152731 + Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 24152731 24152731 G A SNP DHX15 NM_001358 human genbank 54_36p -1 reviewed nonsense c.1348 p.R450* 1 "superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C" "HMMSmart_DEXDc,superfamily_SSF52540,HMMSmart_AAA,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DKK2 27123 hgsc.bcm.edu 36 4 108065170 108065170 + Silent SNP A A T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 108065170 108065170 A T SNP DKK2 NM_014421 human genbank 54_36p -1 reviewed silent c.510 p.T170 0.99 NULL HMMPfam_Dickkopf_N - no_errors DKK2 27123 hgsc.bcm.edu 36 4 108065300 108065300 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 108065300 108065300 C G SNP DKK2 NM_014421 human genbank 54_36p -1 reviewed missense c.380 p.C127S 1 HMMPfam_Dickkopf_N HMMPfam_Dickkopf_N - no_errors EDNRA 1909 hgsc.bcm.edu 36 4 148626405 148626405 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 148626405 148626405 G A SNP EDNRA NM_001957 human genbank 54_36p 1 validated missense c.122 p.R41H 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ENAM 10117 hgsc.bcm.edu 36 4 71728122 71728122 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 71728122 71728122 T A SNP ENAM NM_031889 human genbank 54_36p 1 validated missense c.2115 p.D705E 0.2 NULL NULL - no_errors EVC2 132884 hgsc.bcm.edu 36 4 5675310 5675310 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 5675310 5675310 C A SNP EVC2 NM_147127 human genbank 54_36p -1 validated missense c.2356 p.A786S 0 NULL NULL - no_errors EVC2 132884 hgsc.bcm.edu 36 4 5675312 5675312 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 5675312 5675312 G A SNP EVC2 NM_147127 human genbank 54_36p -1 validated missense c.2354 p.A785V 0.24 NULL NULL - no_errors FAM13A 10144 hgsc.bcm.edu 36 4 89890081 89890081 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 89890081 89890081 C T SNP FAM13A NM_014883 human genbank 54_36p -1 validated missense c.1943 p.R648Q 0.01 NULL "superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors FAM160A1 729830 hgsc.bcm.edu 36 4 152779297 152779297 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 152779297 152779297 G A SNP FAM160A1 XM_001718535 human genbank 54_36p 1 model missense c.1162 p.A388T 1 HMMPfam_RAI16-like HMMPfam_RAI16-like - no_errors FAT1 2195 hgsc.bcm.edu 36 4 187762615 187762615 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 187762615 187762615 C G SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.10458 p.E3486D 0.01 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" ############################################################################################################################################################################################################################################################### - no_errors FBXW7 55294 hgsc.bcm.edu 36 4 153468834 153468834 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 153468834 153468834 C T SNP FBXW7 NM_033632 human genbank 54_36p -1 reviewed missense c.1394 p.R465H 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors TMEM150C 441027 hgsc.bcm.edu 36 4 83642942 83642942 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 83642942 83642942 C T SNP FLJ12993 NM_001080506 human genbank 54_36p -1 predicted missense c.197 p.C66Y 1 HMMPfam_Frag1 HMMPfam_Frag1 - no_errors ARHGEF38 54848 hgsc.bcm.edu 36 4 106693383 106693383 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 106693383 106693383 A C SNP FLJ20184 NM_017700 human genbank 54_36p 1 predicted missense c.12 p.K4N 1 NULL "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF" - no_errors ARHGEF38 54848 hgsc.bcm.edu 36 4 106729858 106729858 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 106729858 106729858 G C SNP FLJ20184 NM_017700 human genbank 54_36p 1 predicted missense c.201 p.K67N 1 NULL "HMMPfam_RhoGEF,superfamily_DH-domain,PatternScan_DH_1" - no_errors FRG1 2483 hgsc.bcm.edu 36 4 191099194 191099194 + Silent SNP C C T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 191099194 191099194 C T SNP FRG1 NM_004477 human genbank 54_36p 1 reviewed silent c.36 p.L12 1 NULL "PatternScan_LIPOCALIN,superfamily_Actin-crosslinking proteins,HMMPfam_FRG1" - no_errors FSTL5 56884 hgsc.bcm.edu 36 4 162900106 162900106 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 162900106 162900106 C G SNP FSTL5 NM_020116 human genbank 54_36p -1 validated missense c.634 p.D212H 1 superfamily_SSF47473 "PatternScan_KAZAL,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_efhand,superfamily_SSF47473,PatternScan_EF_HAND_1,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_Amine_DH_B_like" - no_errors GABRA4 2557 hgsc.bcm.edu 36 4 46667929 46667929 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 46667929 46667929 T A SNP GABRA4 NM_000809 human genbank 54_36p -1 reviewed missense c.802 p.I268F 1 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRB1 2560 hgsc.bcm.edu 36 4 47100191 47100191 + Missense_Mutation SNP A A T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 47100191 47100191 A T SNP GABRB1 NM_000812 human genbank 54_36p 1 reviewed missense c.644 p.D215V 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRB1 2560 hgsc.bcm.edu 36 4 47122715 47122715 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 47122715 47122715 G C SNP GABRB1 NM_000812 human genbank 54_36p 1 reviewed missense c.1348 p.D450H 1 "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM" "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GABRG1 2565 hgsc.bcm.edu 36 4 45738000 45738000 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 45738000 45738000 G A SNP GABRG1 NM_173536 human genbank 54_36p -1 reviewed missense c.1160 p.T387I 0.22 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRG1 2565 hgsc.bcm.edu 36 4 45748339 45748339 + Silent SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 45748339 45748339 C T SNP GABRG1 NM_173536 human genbank 54_36p -1 reviewed silent c.990 p.V330 1 "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM" "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GC 2638 hgsc.bcm.edu 36 4 72848029 72848029 + Missense_Mutation SNP A A T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 72848029 72848029 A T SNP GC NM_000583 human genbank 54_36p -1 reviewed missense c.661 p.S221T 1 "HMMSmart_SM00103,superfamily_Serum albumin-like,HMMPfam_Serum_albumin" "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like,PatternScan_ALBUMIN,HMMPfam_VitD-bind_III" - no_errors GK2 2712 hgsc.bcm.edu 36 4 80547003 80547003 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 80547003 80547003 G T SNP GK2 NM_033214 human genbank 54_36p -1 validated missense c.1376 p.A459D 0.98 "superfamily_SSF53067,HMMPfam_FGGY_C" "superfamily_SSF53067,HMMPfam_FGGY_N,PatternScan_FGGY_KINASES_1,HMMPfam_FGGY_C,PatternScan_FGGY_KINASES_2" - no_errors GLRA3 8001 hgsc.bcm.edu 36 4 175834847 175834847 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 175834847 175834847 G A SNP GLRA3 NM_006529 human genbank 54_36p -1 validated missense c.884 p.T295M 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GLRA3 8001 hgsc.bcm.edu 36 4 175946608 175946608 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 175946608 175946608 C G SNP GLRA3 NM_006529 human genbank 54_36p -1 validated missense c.133 p.D45H 1 "HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GPRIN3 285513 hgsc.bcm.edu 36 4 90388256 90388256 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 90388256 90388256 G C SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated missense c.2029 p.Q677E 1 NULL NULL - no_errors GUCY1A3 2982 hgsc.bcm.edu 36 4 156851177 156851177 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G A A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 156851177 156851177 G A SNP GUCY1A3 NM_000856 human genbank 54_36p 1 validated missense c.410 p.G137D 1 NULL "HMMPfam_HNOBA,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors HERC5 51191 hgsc.bcm.edu 36 4 89616064 89616064 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 89616064 89616064 C T SNP HERC5 NM_016323 human genbank 54_36p 1 reviewed missense c.1442 p.S481F 0.91 NULL "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors IL8 3576 hgsc.bcm.edu 36 4 74826241 74826241 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 74826241 74826241 C A SNP IL8 NM_000584 human genbank 54_36p 1 reviewed nonsense c.183 p.C61* 0.02 "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC" "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC" - no_errors INTU 27152 hgsc.bcm.edu 36 4 128784161 128784161 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 128784161 128784161 A G SNP INTU NM_015693 human genbank 54_36p 1 provisional missense c.182 p.K61R 1 NULL "HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors IRF2 3660 hgsc.bcm.edu 36 4 185576686 185576686 + Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 185576686 185576686 T A SNP IRF2 NM_002199 human genbank 54_36p -1 reviewed nonsense c.358 p.K120* 1 NULL "HMMSmart_SM00348,superfamily_Winged helix DNA-binding domain,HMMPfam_IRF,PatternScan_IRF" - no_errors KCTD8 386617 hgsc.bcm.edu 36 4 43871767 43871767 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 43871767 43871767 G A SNP KCTD8 NM_198353 human genbank 54_36p -1 validated missense c.1219 p.R407C 1 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" - no_errors KIAA1109 84162 hgsc.bcm.edu 36 4 123337348 123337348 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 123337348 123337348 G A SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated missense c.1161 p.M387I 1 NULL "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors FAM190A 401145 hgsc.bcm.edu 36 4 91540245 91540245 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 91540245 91540245 T A SNP KIAA1680 NM_207491 human genbank 54_36p 1 validated missense c.1545 p.D515E 1 NULL NULL - no_errors KIT 3815 hgsc.bcm.edu 36 4 55219002 55219002 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 55219002 55219002 A G SNP KIT NM_000222 human genbank 54_36p 1 reviewed missense c.64 p.T22A 1 NULL "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors KIT 3815 hgsc.bcm.edu 36 4 55256459 55256459 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 55256459 55256459 C T SNP KIT NM_000222 human genbank 54_36p 1 reviewed missense c.92 p.P31L 0.98 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors KIT 3815 hgsc.bcm.edu 36 4 55288401 55288401 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 55288401 55288401 C A SNP KIT NM_000222 human genbank 54_36p 1 reviewed nonsense c.1710 p.Y570* 1 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors KLHL5 51088 hgsc.bcm.edu 36 4 38791160 38791160 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 38791160 38791160 C T SNP KLHL5 NM_015990 human genbank 54_36p 1 validated missense c.1952 p.T651M 0.97 "superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors LIMCH1 22998 hgsc.bcm.edu 36 4 41381272 41381272 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 41381272 41381272 C G SNP LIMCH1 NM_014988 human genbank 54_36p 1 validated missense c.2795 p.T932R 0 NULL "HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors LRBA 987 hgsc.bcm.edu 36 4 151423206 151423206 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 151423206 151423206 C T SNP LRBA NM_006726 human genbank 54_36p -1 validated missense c.8195 p.R2732K 1 superfamily_WD40 repeat-like "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors MAN2B2 23324 hgsc.bcm.edu 36 4 6670082 6670082 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G T T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 6670082 6670082 G T SNP MAN2B2 NM_015274 human genbank 54_36p 1 validated missense c.2776 p.D926Y 1 "superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C" "superfamily_Glycoside hydrolase/deacetylase,HMMPfam_Glyco_hydro_38,superfamily_Families 57/38 glycoside transferase middle domain,HMMPfam_Alpha-mann_mid,superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C" - no_errors MANBA 4126 hgsc.bcm.edu 36 4 103864166 103864166 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 103864166 103864166 A G SNP MANBA NM_005908 human genbank 54_36p -1 reviewed missense c.277 p.W93R 0.98 superfamily_Gal_bind_like "superfamily_Gal_bind_like,superfamily_Glyco_hydro_cat,HMMPfam_Glyco_hydro_2_C" - no_errors MTTP 4547 hgsc.bcm.edu 36 4 100735064 100735064 + Splice_Site SNP G G T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 100735064 100735064 G T SNP MTTP NM_000253 human genbank 54_36p 1 reviewed splice_site c.909+1 e7+1 1 - - - no_errors MTTP 4547 hgsc.bcm.edu 36 4 100759232 100759232 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G T T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 100759232 100759232 G T SNP MTTP NM_000253 human genbank 54_36p 1 reviewed nonsense c.2296 p.E766* 1 NULL "superfamily_Lipid_transp_b-sht_shell,HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical" - no_errors NFKB1 4790 hgsc.bcm.edu 36 4 103724953 103724953 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 103724953 103724953 G A SNP NFKB1 NM_003998 human genbank 54_36p 1 reviewed missense c.1004 p.R335Q 1 "superfamily_ANK,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_ANK,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Ank,HMMSmart_ANK,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors NFXL1 152518 hgsc.bcm.edu 36 4 47548694 47548694 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 47548694 47548694 C T SNP NFXL1 NM_152995 human genbank 54_36p -1 validated missense c.2444 p.R815H 1 NULL "superfamily_RING/U-box,PatternScan_ZF_PHD_1,HMMPfam_zf-NF-X1,HMMSmart_SM00438" - no_errors OTUD4 54726 hgsc.bcm.edu 36 4 146312272 146312272 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 146312272 146312272 C A SNP OTUD4 NM_001102653 human genbank 54_36p -1 reviewed missense c.99 p.Q33H 1 "superfamily_SSF54001,HMMPfam_OTU" "superfamily_SSF54001,HMMPfam_OTU" - no_errors PDCL2 132954 hgsc.bcm.edu 36 4 56123405 56123405 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 56123405 56123405 A C SNP PDCL2 NM_152401 human genbank 54_36p -1 reviewed missense c.494 p.F165C 1 "HMMPfam_Phosducin,superfamily_Thiordxn-like_fd" "HMMPfam_Phosducin,superfamily_Thiordxn-like_fd" - no_errors PDE6B 5158 hgsc.bcm.edu 36 4 640768 640770 + In_Frame_Del DEL AAA AAA - novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 AAA AAA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 640768 640770 AAA - DEL PDE6B NM_000283 human genbank 54_36p 1 reviewed in_frame_del c.1213_1215 p.K405in_frame_del 1.000:1.000:0.992 "HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like" "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" "(deletion:cds_exon[640663,640812])" no_errors PDGFC 56034 hgsc.bcm.edu 36 4 157951447 157951447 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 157951447 157951447 C A SNP PDGFC NM_016205 human genbank 54_36p -1 reviewed missense c.487 p.V163F 0.97 "HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMSmart_SM00042,HMMPfam_CUB,superfamily_Spermadhesin CUB domain,superfamily_Cystine-knot cytokines,HMMSmart_SM00141,HMMPfam_PDGF" - no_errors PIGG 54872 hgsc.bcm.edu 36 4 510847 510864 + In_Frame_Del DEL CTCTCTGTCCTGGCTGCC CTCTCTGTCCTGGCTGCC - novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 CTCTCTGTCCTGGCTGCC CTCTCTGTCCTGGCTGCC . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 510847 510864 CTCTCTGTCCTGGCTGCC - DEL PIGG NM_017733 human genbank 54_36p 1 validated in_frame_del c.2065_2082 p.VLAALS691in_frame_del 0.997:1.000:1.000:1.000:0.996:0.001:0.013:0.405:0.519:0.935:0.998:0.998:0.969:0.967:0.629:0.775:0.737:0.008 NULL superfamily_Alkaline_phosphatase_core "(deletion:cds_exon[510828,511019])" no_errors POLN 353497 hgsc.bcm.edu 36 4 2179581 2179581 + Silent SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 2179581 2179581 G A SNP POLN NM_181808 human genbank 54_36p -1 validated silent c.645 p.L215 0.91 NULL "superfamily_Ribonuclease H-like,superfamily_DNA/RNA polymerases,HMMPfam_DNA_pol_A,HMMSmart_SM00482" - no_errors RBPJ 3516 hgsc.bcm.edu 36 4 26041436 26041436 + Silent SNP C C T rs1064380 Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 26041436 26041436 C T SNP RBPJ NM_005349 human genbank 54_36p 1 validated silent c.1212 p.V404 0.97 "superfamily_E set domains,HMMPfam_TIG" "superfamily_p53-like transcription factors,HMMPfam_LAG1-DNAbind,superfamily_DNA-binding protein LAG-1 (CSL),HMMPfam_Beta-trefoil,superfamily_E set domains,HMMPfam_TIG" - no_errors RFC1 5981 hgsc.bcm.edu 36 4 38978038 38978038 + Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 38978038 38978038 G A SNP RFC1 NM_002913 human genbank 54_36p -1 reviewed nonsense c.2806 p.Q936* 1 "superfamily_Pol_clamp_load_C,HMMPfam_RFC1" "superfamily_BRCT,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,superfamily_Pol_clamp_load_C,HMMPfam_RFC1" - no_errors SCLT1 132320 hgsc.bcm.edu 36 4 130179665 130179665 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 130179665 130179665 C G SNP SCLT1 NM_144643 human genbank 54_36p -1 validated missense c.271 p.V91L 1 NULL NULL - no_errors SEC24B 10427 hgsc.bcm.edu 36 4 110635355 110635355 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 110635355 110635355 A G SNP SEC24B NM_006323 human genbank 54_36p 1 reviewed missense c.1382 p.Y461C 1 superfamily_beta-sandwich domain of Sec23/24 ############################################################################################################################################################################################################################################################### - no_errors SHISA3 152573 hgsc.bcm.edu 36 4 42097904 42097904 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 42097904 42097904 G C SNP SHISA3 NM_001080505 human genbank 54_36p 1 provisional missense c.396 p.Q132H 1 NULL NULL - no_errors SLC2A9 56606 hgsc.bcm.edu 36 4 9531239 9531239 + Silent SNP C C G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 9531239 9531239 C G SNP SLC2A9 NM_020041 human genbank 54_36p -1 reviewed silent c.870 p.L290 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC4A4 8671 hgsc.bcm.edu 36 4 72630963 72630963 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 72630963 72630963 G A SNP SLC4A4 NM_001098484 human genbank 54_36p 1 reviewed nonsense c.2475 p.W825* 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC4A4 8671 hgsc.bcm.edu 36 4 72639728 72639728 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 72639728 72639728 C A SNP SLC4A4 NM_001098484 human genbank 54_36p 1 reviewed missense c.2702 p.P901H 1 HMMPfam_HCO3_cotransp "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein" - no_errors SLIT2 9353 hgsc.bcm.edu 36 4 20228183 20228183 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 20228183 20228183 C G SNP SLIT2 NM_004787 human genbank 54_36p 1 provisional missense c.4160 p.P1387R 1 "superfamily_EGF/Laminin,HMMSmart_SM00181" ############################################################################################################################################################################################################################################################### - no_errors SMAD1 4086 hgsc.bcm.edu 36 4 146698398 146698398 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 146698398 146698398 G C SNP SMAD1 NM_001003688 human genbank 54_36p 1 reviewed missense c.1260 p.W420C 1 "superfamily_SMAD/FHA domain,HMMPfam_MH2,HMMSmart_SM00524" "superfamily_SMAD MH1 domain,HMMSmart_SM00523,HMMPfam_MH1,superfamily_SMAD/FHA domain,HMMPfam_MH2,HMMSmart_SM00524" - no_errors SPATA18 132671 hgsc.bcm.edu 36 4 52630789 52630789 + Silent SNP G G C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 52630789 52630789 G C SNP SPATA18 NM_145263 human genbank 54_36p 1 provisional silent c.468 p.S156 0.99 NULL NULL - no_errors SPOCK3 50859 hgsc.bcm.edu 36 4 167892745 167892745 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 167892745 167892745 C A SNP SPOCK3 NM_016950 human genbank 54_36p -1 validated nonsense c.1213 p.E405* 1 NULL "superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_2,HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand,superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211" - no_errors SRP72 6731 hgsc.bcm.edu 36 4 57048888 57048888 + Silent SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 57048888 57048888 A C SNP SRP72 NM_006947 human genbank 54_36p 1 validated silent c.1176 p.A392 0.78 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMPfam_SRP72" - no_errors SYNPO2 171024 hgsc.bcm.edu 36 4 120167701 120167701 + Silent SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 120167701 120167701 G A SNP SYNPO2 NM_133477 human genbank 54_36p 1 validated silent c.729 p.S243 0 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors TACC3 10460 hgsc.bcm.edu 36 4 1700105 1700106 + Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 4 1700105 1700106 - C INS TACC3 NM_006342 human genbank 54_36p 1 reviewed frame_shift_ins c.1178_1179 p.M396fs 0.029:0.000 NULL HMMPfam_TACC - no_errors TLR3 7098 hgsc.bcm.edu 36 4 187241239 187241239 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 187241239 187241239 C G SNP TLR3 NM_003265 human genbank 54_36p 1 reviewed missense c.1405 p.L469V 0.01 superfamily_SSF52058 "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors TMEM33 55161 hgsc.bcm.edu 36 4 41650930 41650930 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 41650930 41650930 A C SNP TMEM33 NM_018126 human genbank 54_36p 1 validated missense c.701 p.Q234P 1 HMMPfam_UPF0121 HMMPfam_UPF0121 - no_errors TMPRSS11B 132724 hgsc.bcm.edu 36 4 68779575 68779575 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 68779575 68779575 G T SNP TMPRSS11B NM_182502 human genbank 54_36p -1 validated nonsense c.627 p.Y209* 0 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_SEA domain,HMMPfam_SEA,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" - no_errors TMPRSS11D 9407 hgsc.bcm.edu 36 4 68375829 68375829 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 68375829 68375829 A T SNP TMPRSS11D NM_004262 human genbank 54_36p -1 reviewed missense c.697 p.S233T 0 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_SSF82671,HMMSmart_SEA,HMMPfam_SEA,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TMPRSS11F 389208 hgsc.bcm.edu 36 4 68647321 68647321 + Silent SNP T T A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 68647321 68647321 T A SNP TMPRSS11F NM_207407 human genbank 54_36p -1 validated silent c.42 p.S14 0.79 NULL "superfamily_SSF82671,HMMSmart_SEA,HMMPfam_SEA,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TTC29 83894 hgsc.bcm.edu 36 4 147944251 147944251 + Frame_Shift_Del DEL C C - novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 147944251 147944251 C - DEL TTC29 NM_031956 human genbank 54_36p -1 validated frame_shift_del c.1138 p.A380fs 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "(deletion:cds_exon[147944059,147944287])" no_errors UGDH 7358 hgsc.bcm.edu 36 4 39188367 39188367 + Splice_Site SNP C C A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 39188367 39188367 C A SNP UGDH NM_003359 human genbank 54_36p -1 reviewed splice_site c.663+1 e4+1 1 - - - no_errors UGT2A2 574537 hgsc.bcm.edu 36 4 70539788 70539788 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 70539788 70539788 G A SNP UGT2A2 NM_001105677 human genbank 54_36p -1 inferred nonsense c.136 p.Q46* 0.22 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UNC5C 8633 hgsc.bcm.edu 36 4 96359271 96359271 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 96359271 96359271 G A SNP UNC5C NM_003728 human genbank 54_36p -1 reviewed missense c.1517 p.T506I 1 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors USO1 8615 hgsc.bcm.edu 36 4 76927369 76927369 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 76927369 76927369 T C SNP USO1 NM_003715 human genbank 54_36p 1 reviewed missense c.986 p.I329T 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Uso1_p115_head,HMMPfam_Uso1_p115_C" - no_errors USO1 8615 hgsc.bcm.edu 36 4 76940641 76940641 + Nonsense_Mutation SNP C C G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 76940641 76940641 C G SNP USO1 NM_003715 human genbank 54_36p 1 reviewed nonsense c.1677 p.Y559* 1 "HMMPfam_Uso1_p115_head,superfamily_ARM repeat" "HMMPfam_Uso1_p115_head,HMMPfam_Uso1_p115_C,superfamily_ARM repeat" - no_errors USO1 8615 hgsc.bcm.edu 36 4 76940643 76940643 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 76940643 76940643 T - DEL USO1 NM_003715 human genbank 54_36p 1 reviewed frame_shift_del c.1679 p.M560fs 0.99 "HMMPfam_Uso1_p115_head,superfamily_ARM repeat" "HMMPfam_Uso1_p115_head,HMMPfam_Uso1_p115_C,superfamily_ARM repeat" "(deletion:cds_exon[76940528,76940646])" no_errors USP46 64854 hgsc.bcm.edu 36 4 53187119 53187119 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 53187119 53187119 C - DEL USP46 NM_022832 human genbank 54_36p -1 validated frame_shift_del c.384 p.L128fs 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" "(deletion:cds_exon[53186942,53187171])" no_errors WDFY3 23001 hgsc.bcm.edu 36 4 85936871 85936871 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 85936871 85936871 T A SNP WDFY3 NM_014991 human genbank 54_36p -1 reviewed missense c.2994 p.E998D 1 NULL ############################################################################################################################################################################################################################################################### - no_errors WDR1 9948 hgsc.bcm.edu 36 4 9726837 9726837 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 9726837 9726837 C T SNP WDR1 NM_017491 human genbank 54_36p -1 reviewed missense c.136 p.D46N 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WHSC1 7468 hgsc.bcm.edu 36 4 1872564 1872564 + Frame_Shift_Del DEL A A - novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 A A A - A A Unknown Valid Somatic Phase_IV Capture SOLID SOLID 4 1872564 1872564 A - DEL WHSC1 NM_001042424 human genbank 54_36p 1 reviewed frame_shift_del c.385 p.T129fs 1 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[1872180,1872776])" no_errors WHSC1 7468 hgsc.bcm.edu 36 4 1932563 1932563 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 1932563 1932563 G C SNP WHSC1 NM_001042424 human genbank 54_36p 1 reviewed missense c.3259 p.E1087Q 1 "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" ############################################################################################################################################################################################################################################################### - no_errors ZFYVE28 57732 hgsc.bcm.edu 36 4 2244812 2244812 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 2244812 2244812 C A SNP ZFYVE28 NM_020972 human genbank 54_36p -1 provisional missense c.2209 p.V737L 1 NULL "HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors ZNF518B 85460 hgsc.bcm.edu 36 4 10054267 10054267 + Silent SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 4 10054267 10054267 A C SNP ZNF518B NM_053042 human genbank 54_36p -1 validated silent c.2784 p.A928 0 NULL "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF518B 85460 hgsc.bcm.edu 36 4 10055182 10055182 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 4 10055182 10055182 C G SNP ZNF518B NM_053042 human genbank 54_36p -1 validated missense c.1869 p.R623S 0 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ACOT12 134526 hgsc.bcm.edu 36 5 80677567 80677567 + Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 80677567 80677567 C T SNP ACOT12 NM_130767 human genbank 54_36p -1 validated nonsense c.666 p.W222* 0 "superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT" "superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT,superfamily_Bet v1-like,HMMPfam_START" - no_errors ACSL6 23305 hgsc.bcm.edu 36 5 131336940 131336940 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 131336940 131336940 C T SNP ACSL6 NM_001009185 human genbank 54_36p -1 validated missense c.1121 p.R374H 1 "superfamily_SSF56801,HMMPfam_AMP-binding" "superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ADAMTS12 81792 hgsc.bcm.edu 36 5 33631905 33631905 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 33631905 33631905 C T SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed missense c.2545 p.A849T 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS12 81792 hgsc.bcm.edu 36 5 33917038 33917038 + Silent SNP C C T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 33917038 33917038 C T SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed silent c.432 p.T144 0.98 HMMPfam_Pep_M12B_propep "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS16 170690 hgsc.bcm.edu 36 5 5292978 5292978 + Silent SNP C C G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 5292978 5292978 C G SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed silent c.2463 p.S821 0.25 HMMPfam_ADAM_spacer1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors ADAMTS16 170690 hgsc.bcm.edu 36 5 5371277 5371277 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 5371277 5371277 A G SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed missense c.3442 p.T1148A 0.57 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS16 170690 hgsc.bcm.edu 36 5 5372202 5372202 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 5372202 5372202 A T SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed missense c.3626 p.K1209M 0.85 HMMPfam_PLAC "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS2 9509 hgsc.bcm.edu 36 5 178473838 178473838 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 178473838 178473838 T C SNP ADAMTS2 NM_014244 human genbank 54_36p -1 reviewed missense c.3272 p.K1091R 1 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADCY2 108 hgsc.bcm.edu 36 5 7573994 7573994 + Silent SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 7573994 7573994 G A SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed silent c.552 p.K184 1 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors ADCY2 108 hgsc.bcm.edu 36 5 7765980 7765980 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 7765980 7765980 G T SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.1590 p.M530I 1 HMMPfam_DUF1053 "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors AGGF1 55109 hgsc.bcm.edu 36 5 76385634 76385634 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 76385634 76385634 G T SNP AGGF1 NM_018046 human genbank 54_36p 1 validated missense c.1556 p.G519V 1 superfamily_SMAD/FHA domain "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMSmart_SM00443,HMMPfam_G-patch" - no_errors ANKHD1-EIF4EBP3 404734 hgsc.bcm.edu 36 5 139883948 139883948 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 139883948 139883948 C G SNP ANKHD1-EIF4EBP3 NM_020690 human genbank 54_36p 1 reviewed missense c.4431 p.N1477K 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF54791,HMMSmart_KH,HMMPfam_KH_1" - no_errors ANXA6 309 hgsc.bcm.edu 36 5 150492274 150492274 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 150492274 150492274 C T SNP ANXA6 NM_001155 human genbank 54_36p -1 reviewed missense c.692 p.R231Q 0.99 "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_ANX" "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_ANX" - no_errors AP3S1 1176 hgsc.bcm.edu 36 5 115258697 115258699 + In_Frame_Del DEL ATT ATT - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 ATT ATT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 115258697 115258699 ATT - DEL AP3S1 NM_001284 human genbank 54_36p 1 validated in_frame_del c.288_290 p.L97in_frame_del 0.982:0.980:1.000 "HMMPfam_Clat_adaptor_s,superfamily_SNARE-like" "HMMPfam_Clat_adaptor_s,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_S" "(deletion:cds_exon[115258683,115258754])" no_errors APBB3 10307 hgsc.bcm.edu 36 5 139921934 139921934 + Silent SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 139921934 139921934 G A SNP APBB3 NM_006051 human genbank 54_36p -1 reviewed silent c.561 p.H187 1 "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" - no_errors APC 324 hgsc.bcm.edu 36 5 112182853 112182853 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 112182853 112182853 C G SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.1225 p.L409V 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding" - no_errors APC 324 hgsc.bcm.edu 36 5 112201745 112201745 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 112201745 112201745 T C SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.2555 p.L852S 0.98 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 324 hgsc.bcm.edu 36 5 112203047 112203047 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 112203047 112203047 A G SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.3857 p.E1286G 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 324 hgsc.bcm.edu 36 5 112204518 112204518 + Silent SNP A A G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A G G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 112204518 112204518 A G SNP APC NM_000038 human genbank 54_36p 1 reviewed silent c.5328 p.V1776 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors ARHGAP26 23092 hgsc.bcm.edu 36 5 142261788 142261788 + Silent SNP C C T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 142261788 142261788 C T SNP ARHGAP26 NM_015071 human genbank 54_36p 1 validated silent c.702 p.N234 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,PatternScan_IG_MHC" - no_errors ARRDC3 57561 hgsc.bcm.edu 36 5 90707095 90707095 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 90707095 90707095 C G SNP ARRDC3 NM_020801 human genbank 54_36p -1 validated missense c.602 p.G201A 1 "superfamily_Ig_E-set,HMMPfam_Arrestin_C" "HMMPfam_Arrestin_N,superfamily_Ig_E-set,HMMPfam_Arrestin_C" - no_errors BHMT2 23743 hgsc.bcm.edu 36 5 78414808 78414808 + Silent SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 78414808 78414808 C T SNP BHMT2 NM_017614 human genbank 54_36p 1 reviewed silent c.636 p.P212 0.06 "superfamily_S_methyl_trans,HMMPfam_S-methyl_trans" "superfamily_S_methyl_trans,HMMPfam_S-methyl_trans" - no_errors BRD8 10902 hgsc.bcm.edu 36 5 137529604 137529604 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 137529604 137529604 T A SNP BRD8 NM_139199 human genbank 54_36p -1 reviewed missense c.1090 p.I364F 1 NULL "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors C5orf22 55322 hgsc.bcm.edu 36 5 31581529 31581529 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 31581529 31581529 C T SNP C5orf22 NM_018356 human genbank 54_36p 1 validated missense c.1012 p.L338F 1 NULL NULL - no_errors C5orf33 133686 hgsc.bcm.edu 36 5 36255475 36255477 + In_Frame_Del DEL CTT CTT - novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 CTT CTT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 36255475 36255477 CTT - DEL C5orf33 NM_001085411 human genbank 54_36p -1 validated in_frame_del c.624_622 p.K208in_frame_del 1.000:1.000:1.000 superfamily_NAD kinase (Pfam 01513) "superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase" "(deletion:cds_exon[36255455,36255538])" no_errors C5orf33 133686 hgsc.bcm.edu 36 5 36255477 36255477 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 36255477 36255477 T A SNP C5orf33 NM_001085411 human genbank 54_36p -1 validated nonsense c.622 p.K208* 1 superfamily_NAD kinase (Pfam 01513) "HMMPfam_NAD_kinase,superfamily_NAD kinase (Pfam 01513)" - no_errors C5orf35 133383 hgsc.bcm.edu 36 5 56248457 56248457 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 56248457 56248457 T A SNP C5orf35 NM_153706 human genbank 54_36p 1 predicted missense c.871 p.F291I 1 superfamily_SET domain superfamily_SET domain - no_errors C5orf42 65250 hgsc.bcm.edu 36 5 37156188 37156188 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 37156188 37156188 T C SNP C5orf42 NM_023073 human genbank 54_36p -1 predicted missense c.5729 p.H1910R 0.01 NULL NULL - no_errors C5orf42 65250 hgsc.bcm.edu 36 5 37220792 37220792 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 37220792 37220792 G C SNP C5orf42 NM_023073 human genbank 54_36p -1 predicted missense c.979 p.P327A 0 NULL NULL - no_errors C6 729 hgsc.bcm.edu 36 5 41189853 41189853 + Silent SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 41189853 41189853 C T SNP C6 NM_000065 human genbank 54_36p -1 reviewed silent c.2106 p.T702 0 superfamily_Complement_control_module ############################################################################################################################################################################################################################################################### - no_errors CAMK4 814 hgsc.bcm.edu 36 5 110847810 110847810 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 110847810 110847810 C T SNP CAMK4 NM_001744 human genbank 54_36p 1 reviewed missense c.1169 p.A390V 0 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CARD6 84674 hgsc.bcm.edu 36 5 40889849 40889849 + Silent SNP A A T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 40889849 40889849 A T SNP CARD6 NM_032587 human genbank 54_36p 1 reviewed silent c.2658 p.I886 0 NULL "superfamily_DEATH_like,HMMPfam_CARD" - no_errors CCNH 902 hgsc.bcm.edu 36 5 86736503 86736503 + Silent SNP C C T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 86736503 86736503 C T SNP CCNH NM_001239 human genbank 54_36p -1 reviewed silent c.603 p.T201 0.76 superfamily_Cyclin_like "PatternScan_CYCLINS,superfamily_Cyclin_like,HMMSmart_CYCLIN,HMMPfam_Cyclin_N" - no_errors CCT5 22948 hgsc.bcm.edu 36 5 10315704 10315704 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 10315704 10315704 C G SNP CCT5 NM_012073 human genbank 54_36p 1 reviewed missense c.1291 p.L431V 0.27 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like" - no_errors CDH18 1016 hgsc.bcm.edu 36 5 19757273 19757273 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 19757273 19757273 C T SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed missense c.583 p.A195T 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH6 1004 hgsc.bcm.edu 36 5 31358918 31358918 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 31358918 31358918 C T SNP CDH6 NM_004932 human genbank 54_36p 1 reviewed missense c.2119 p.R707C 0.07 HMMPfam_Cadherin_C "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH9 1007 hgsc.bcm.edu 36 5 27024186 27024186 + Silent SNP G G A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 27024186 27024186 G A SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed silent c.12 p.Y4 0 NULL "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CHSY3 337876 hgsc.bcm.edu 36 5 129548619 129548619 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 129548619 129548619 G A SNP CHSY3 NM_175856 human genbank 54_36p 1 validated missense c.1885 p.G629R 1 "HMMPfam_CHGN,superfamily_SSF53448" "HMMPfam_CHGN,superfamily_SSF53448" - no_errors CLPTM1L 81037 hgsc.bcm.edu 36 5 1394926 1394926 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 1394926 1394926 A G SNP CLPTM1L NM_030782 human genbank 54_36p -1 provisional missense c.313 p.Y105H 1 HMMPfam_CLPTM1 HMMPfam_CLPTM1 - no_errors CMYA5 202333 hgsc.bcm.edu 36 5 79070229 79070229 + Silent SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 79070229 79070229 G C SNP CMYA5 NM_153610 human genbank 54_36p 1 validated silent c.9885 p.L3295 0.33 NULL "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_SPRY" - no_errors CTNND2 1501 hgsc.bcm.edu 36 5 11026590 11026590 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 11026590 11026590 G A SNP CTNND2 NM_001332 human genbank 54_36p -1 validated missense c.3653 p.P1218L 1 NULL "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors CTNND2 1501 hgsc.bcm.edu 36 5 11212781 11212781 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 11212781 11212781 G T SNP CTNND2 NM_001332 human genbank 54_36p -1 validated missense c.2066 p.P689H 1 "HMMSmart_SM00185,superfamily_ARM repeat" "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors DDX46 9879 hgsc.bcm.edu 36 5 134127670 134127670 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 134127670 134127670 G T SNP DDX46 NM_014829 human genbank 54_36p 1 reviewed missense c.195 p.R65S 1 NULL "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors DHX29 54505 hgsc.bcm.edu 36 5 54615167 54615167 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 54615167 54615167 G A SNP DHX29 NM_019030 human genbank 54_36p -1 validated missense c.1586 p.S529L 0.96 NULL "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DHX29 54505 hgsc.bcm.edu 36 5 54627893 54627898 + In_Frame_Del DEL CTTTGT CTTTGT - novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 CTTTGT CTTTGT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 54627893 54627898 CTTTGT - DEL DHX29 NM_019030 human genbank 54_36p -1 validated in_frame_del c.417_412 p.TK138in_frame_del 1.000:1.000:1.000:0.992:1.000:1.000 NULL "HMMPfam_Helicase_C,HMMSmart_HELICc,PatternScan_DEAH_ATP_HELICASE,HMMPfam_HA2,HMMPfam_DEAD,HMMPfam_DUF1605,HMMSmart_DEXDc,superfamily_SSF52540" "(deletion:cds_exon[54627805,54627934])" no_errors DMXL1 1657 hgsc.bcm.edu 36 5 118604052 118604052 + Silent SNP T T C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 118604052 118604052 T C SNP DMXL1 NM_005509 human genbank 54_36p 1 validated silent c.8628 p.N2876 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_SUBTILASE_ASP,PatternScan_WD_REPEATS_1" - no_errors DNAH5 1767 hgsc.bcm.edu 36 5 13767612 13767612 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 13767612 13767612 C T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.13027 p.D4343N 1 HMMPfam_Dynein_heavy "HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH5 1767 hgsc.bcm.edu 36 5 13807367 13807367 + Silent SNP T T C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 13807367 13807367 T C SNP DNAH5 NM_001369 human genbank 54_36p -1 validated silent c.10500 p.K3500 1 NULL "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 hgsc.bcm.edu 36 5 13816005 13816005 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 13816005 13816005 G T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.10107 p.F3369L 1 NULL "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 hgsc.bcm.edu 36 5 13830370 13830373 + Frame_Shift_Del DEL TGTC TGTC - novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 TGTC TGTC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 13830370 13830373 TGTC - DEL DNAH5 NM_001369 human genbank 54_36p -1 validated frame_shift_del c.9046_9043 p.D3015fs 1.000:1.000:1.000:1.000 superfamily_SSF52540 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" "(deletion:cds_exon[13830311,13830464])" no_errors DNAH5 1767 hgsc.bcm.edu 36 5 13883837 13883837 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 13883837 13883837 G T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.5930 p.A1977D 1 "HMMSmart_AAA,superfamily_SSF52540" "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 hgsc.bcm.edu 36 5 13921012 13921012 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 13921012 13921012 C A SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.3924 p.K1308N 1 superfamily_Spectrin "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAJC18 202052 hgsc.bcm.edu 36 5 138801136 138801136 + Silent SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 138801136 138801136 G A SNP DNAJC18 NM_152686 human genbank 54_36p -1 provisional silent c.51 p.D17 0.99 NULL "superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1,HMMPfam_DUF1977" - no_errors DOCK2 1794 hgsc.bcm.edu 36 5 169416336 169416336 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 169416336 169416336 G C SNP DOCK2 NM_004946 human genbank 54_36p 1 validated missense c.4366 p.E1456Q 0.98 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c" - no_errors DPYSL3 1809 hgsc.bcm.edu 36 5 146757506 146757506 + Silent SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 146757506 146757506 C T SNP DPYSL3 NM_001387 human genbank 54_36p -1 validated silent c.1377 p.L459 1 NULL "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" - no_errors DRD1 1812 hgsc.bcm.edu 36 5 174801396 174801396 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 174801396 174801396 A G SNP DRD1 NM_000794 human genbank 54_36p -1 reviewed missense c.1313 p.I438T 1 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ERBB2IP 55914 hgsc.bcm.edu 36 5 65378114 65378114 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 65378114 65378114 G A SNP ERBB2IP NM_018695 human genbank 54_36p 1 reviewed missense c.1780 p.V594I 0.99 NULL "superfamily_SSF52058,HMMPfam_LRR_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors F2R 2149 hgsc.bcm.edu 36 5 76064569 76064569 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 76064569 76064569 C T SNP F2R NM_001992 human genbank 54_36p 1 reviewed missense c.763 p.H255Y 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors F2R 2149 hgsc.bcm.edu 36 5 76064685 76064685 + Silent SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 76064685 76064685 C T SNP F2R NM_001992 human genbank 54_36p 1 reviewed silent c.879 p.I293 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors F2R 2149 hgsc.bcm.edu 36 5 76064933 76064933 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 76064933 76064933 C T SNP F2R NM_001992 human genbank 54_36p 1 reviewed missense c.1127 p.S376F 0.85 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors FAM151B 167555 hgsc.bcm.edu 36 5 79851401 79851401 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 79851401 79851401 T G SNP FAM151B NM_205548 human genbank 54_36p 1 predicted missense c.451 p.L151V 1 HMMPfam_DUF2181 HMMPfam_DUF2181 - no_errors FAM71B 153745 hgsc.bcm.edu 36 5 156522348 156522348 + Silent SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 156522348 156522348 G A SNP FAM71B NM_130899 human genbank 54_36p -1 validated silent c.1506 p.H502 0.02 NULL NULL - no_errors FAM71B 153745 hgsc.bcm.edu 36 5 156522680 156522680 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 156522680 156522680 C A SNP FAM71B NM_130899 human genbank 54_36p -1 validated nonsense c.1174 p.G392* 0 NULL NULL - no_errors FAM71B 153745 hgsc.bcm.edu 36 5 156523083 156523083 + Silent SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 156523083 156523083 A T SNP FAM71B NM_130899 human genbank 54_36p -1 validated silent c.771 p.A257 0 NULL NULL - no_errors FASTKD3 79072 hgsc.bcm.edu 36 5 7920785 7920785 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 7920785 7920785 A C SNP FASTKD3 NM_024091 human genbank 54_36p -1 validated missense c.412 p.C138G 0.8 NULL "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors FAT2 2196 hgsc.bcm.edu 36 5 150881655 150881655 + Silent SNP C C G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 150881655 150881655 C G SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed silent c.10692 p.L3564 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" ############################################################################################################################################################################################################################################################### - no_errors FAT2 2196 hgsc.bcm.edu 36 5 150903283 150903283 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 150903283 150903283 G C SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed missense c.7598 p.P2533R 0 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FBXO38 81545 hgsc.bcm.edu 36 5 147787404 147787404 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 147787404 147787404 A G SNP FBXO38 NM_205836 human genbank 54_36p 1 validated missense c.2354 p.Q785R 1 NULL "superfamily_F-box domain,HMMPfam_F-box,superfamily_RNI-like" - no_errors ARHGEF37 389337 hgsc.bcm.edu 36 5 148991932 148991932 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 148991932 148991932 G A SNP FLJ41603 NM_001001669 human genbank 54_36p 1 validated nonsense c.2013 p.W671* 1 superfamily_SH3 "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_BAR,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,HMMPfam_SH3_1" - no_errors FYB 2533 hgsc.bcm.edu 36 5 39238125 39238125 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 39238125 39238125 C G SNP FYB NM_001465 human genbank 54_36p -1 validated missense c.695 p.R232T 0.01 NULL "PatternScan_XYLOSE_ISOMERASE_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors GABRA1 2554 hgsc.bcm.edu 36 5 161232726 161232726 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 161232726 161232726 G A SNP GABRA1 NM_000806 human genbank 54_36p 1 reviewed missense c.281 p.R94H 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRA6 2559 hgsc.bcm.edu 36 5 161049331 161049331 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 161049331 161049331 C T SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed missense c.641 p.T214I 1 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GABRA6 2559 hgsc.bcm.edu 36 5 161051681 161051681 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 161051681 161051681 C T SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed missense c.983 p.T328I 1 "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GABRA6 2559 hgsc.bcm.edu 36 5 161061315 161061315 + Silent SNP T T C novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 161061315 161061315 T C SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed silent c.1320 p.Y440 1 superfamily_Neurotransmitter-gated ion-channel transmembrane pore "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GPR98 84059 hgsc.bcm.edu 36 5 89985251 89985251 + Silent SNP T T C novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 89985251 89985251 T C SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed silent c.4104 p.N1368 1 superfamily_Concanavalin A-like lectins/glucanases "HMMSmart_SM00237,HMMPfam_Calx-beta,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP,PatternScan_A_DEAMINASE,PatternScan_LIPOYL,HMMPfam_GPS" - no_errors GRIA1 2890 hgsc.bcm.edu 36 5 153170856 153170856 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 153170856 153170856 G T SNP GRIA1 NM_000827 human genbank 54_36p 1 reviewed missense c.2599 p.A867S 1 NULL "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors H2AFY 9555 hgsc.bcm.edu 36 5 134706992 134706992 + Silent SNP G G T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 134706992 134706992 G T SNP H2AFY NM_138610 human genbank 54_36p -1 reviewed silent c.810 p.A270 1 "superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro" "HMMSmart_SM00414,superfamily_Histone-fold,HMMPfam_Histone,superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro" - no_errors HAPLN1 1404 hgsc.bcm.edu 36 5 82973357 82973357 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 82973357 82973357 C T SNP HAPLN1 NM_001884 human genbank 54_36p -1 validated missense c.779 p.R260H 0.82 "HMMSmart_SM00445,HMMPfam_Xlink" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1" - no_errors HAVCR1 26762 hgsc.bcm.edu 36 5 156412146 156412147 + In_Frame_Ins INS - - GTT novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 156412146 156412147 - GTT INS HAVCR1 NM_001099414 human genbank 54_36p -1 validated in_frame_ins c.477_476 p.161in_frame_insT 0.005:0.017 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set,PatternScan_IG_MHC" - no_errors HCN1 348980 hgsc.bcm.edu 36 5 45681093 45681093 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 45681093 45681093 C A SNP HCN1 NM_021072 human genbank 54_36p -1 validated missense c.800 p.R267L 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1" - no_errors HEATR7B2 133558 hgsc.bcm.edu 36 5 41097435 41097435 + Silent SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 41097435 41097435 G T SNP HEATR7B2 NM_173489 human genbank 54_36p -1 validated silent c.609 p.P203 0 NULL superfamily_ARM repeat - no_errors IL7R 3575 hgsc.bcm.edu 36 5 35912067 35912067 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 35912067 35912067 A T SNP IL7R NM_002185 human genbank 54_36p 1 reviewed missense c.1102 p.T368S 0 NULL "superfamily_Fibronectin type III,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1" - no_errors JAKMIP2 9832 hgsc.bcm.edu 36 5 146977681 146977681 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 146977681 146977681 G A SNP JAKMIP2 NM_014790 human genbank 54_36p -1 provisional nonsense c.2332 p.Q778* 1 NULL NULL - no_errors JAKMIP2 9832 hgsc.bcm.edu 36 5 147020721 147020721 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 147020721 147020721 G A SNP JAKMIP2 NM_014790 human genbank 54_36p -1 provisional missense c.610 p.R204W 1 NULL NULL - no_errors KDM3B 51780 hgsc.bcm.edu 36 5 137736317 137736317 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 137736317 137736317 A G SNP JMJD1B NM_016604 human genbank 54_36p 1 validated missense c.248 p.H83R 1 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors KDM3B 51780 hgsc.bcm.edu 36 5 137789008 137789008 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 137789008 137789008 G C SNP JMJD1B NM_016604 human genbank 54_36p 1 validated missense c.4249 p.V1417L 1 superfamily_Clavaminate synthase-like "HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like" - no_errors KIF2A 3796 hgsc.bcm.edu 36 5 61712708 61712708 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 61712708 61712708 A G SNP KIF2A NM_001098511 human genbank 54_36p 1 validated missense c.2020 p.I674V 1 NULL "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors LARP1 23367 hgsc.bcm.edu 36 5 154154929 154154929 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 154154929 154154929 G A SNP LARP1 NM_033551 human genbank 54_36p 1 validated missense c.1234 p.E412K 1 "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La,PatternScan_CYTOCHROME_B5_1,HMMSmart_SM00684" - no_errors LARP1 23367 hgsc.bcm.edu 36 5 154162068 154162069 + In_Frame_Ins INS - - GAT novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 154162068 154162069 - GAT INS LARP1 NM_033551 human genbank 54_36p 1 validated in_frame_ins c.2025_2026 p.675in_frame_insD 1.000:1.000 NULL "HMMSmart_SM00684,HMMPfam_La,HMMSmart_SM00715,PatternScan_CYTOCHROME_B5_1,superfamily_Winged helix DNA-binding domain" - no_errors LPCAT1 79888 hgsc.bcm.edu 36 5 1542918 1542919 + Frame_Shift_Ins INS - - CC novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 1542918 1542919 - CC INS LPCAT1 NM_024830 human genbank 54_36p -1 validated frame_shift_ins c.549_548 p.R184fs 0.965:0.996 "superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC" "PatternScan_EF_HAND_1,superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF47473,HMMSmart_EFh" - no_errors MAML1 9794 hgsc.bcm.edu 36 5 179133521 179133521 + Silent SNP C C A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 179133521 179133521 C A SNP MAML1 NM_014757 human genbank 54_36p 1 reviewed silent c.2088 p.P696 0.98 NULL HMMPfam_MamL-1 - no_errors MAN2A1 4124 hgsc.bcm.edu 36 5 109218791 109218791 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 109218791 109218791 T A SNP MAN2A1 NM_002372 human genbank 54_36p 1 reviewed missense c.3028 p.S1010T 0.08 "superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors MAPK9 5601 hgsc.bcm.edu 36 5 179624429 179624429 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 179624429 179624429 T C SNP MAPK9 NM_002752 human genbank 54_36p -1 reviewed missense c.269 p.N90S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST" - no_errors MCCC2 64087 hgsc.bcm.edu 36 5 70936053 70936053 + Splice_Site SNP T T C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 70936053 70936053 T C SNP MCCC2 ENST00000340941 human ensembl 54_36p 1 known splice_site c.624+2 e6+2 1 - - - mismatch_between_exon_seq_and_reference MEF2C 4208 hgsc.bcm.edu 36 5 88054305 88054305 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 88054305 88054305 C A SNP MEF2C NM_002397 human genbank 54_36p -1 validated missense c.1294 p.D432Y 1 NULL "HMMSmart_SM00432,superfamily_SRF-like,PatternScan_MADS_BOX_1,HMMPfam_SRF-TF" - no_errors MEGF10 84466 hgsc.bcm.edu 36 5 126783741 126783741 + Silent SNP C C T novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 126783741 126783741 C T SNP MEGF10 NM_032446 human genbank 54_36p 1 validated silent c.1533 p.D511 0.99 "HMMSmart_SM00181,HMMSmart_SM00180,superfamily_EGF/Laminin" "HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00180,HMMPfam_Laminin_EGF,HMMPfam_EGF_2,superfamily_Plant inhibitors of proteinases and amylases" - no_errors MTMR12 54545 hgsc.bcm.edu 36 5 32299044 32299044 + Silent SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 32299044 32299044 C A SNP MTMR12 NM_001040446 human genbank 54_36p -1 reviewed silent c.645 p.L215 1 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related" - no_errors MYOT 9499 hgsc.bcm.edu 36 5 137241202 137241202 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 137241202 137241202 A T SNP MYOT NM_006790 human genbank 54_36p 1 reviewed missense c.626 p.D209V 0.86 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,PatternScan_ER_TARGET" - no_errors NIPBL 25836 hgsc.bcm.edu 36 5 37011811 37011811 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 37011811 37011811 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.1045 p.S349G 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors NIPBL 25836 hgsc.bcm.edu 36 5 37055186 37055186 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 37055186 37055186 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.4937 p.D1646G 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors NMUR2 56923 hgsc.bcm.edu 36 5 151764254 151764254 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 151764254 151764254 G A SNP NMUR2 NM_020167 human genbank 54_36p -1 reviewed missense c.614 p.T205M 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NPR3 4883 hgsc.bcm.edu 36 5 32820708 32820708 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 32820708 32820708 A T SNP NPR3 NM_000908 human genbank 54_36p 1 validated missense c.1473 p.L491F 1 NULL "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_ANF_RECEPTORS" - no_errors NR2F1 7025 hgsc.bcm.edu 36 5 92946865 92946865 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 92946865 92946865 A G SNP NR2F1 NM_005654 human genbank 54_36p 1 provisional missense c.380 p.N127S 1 "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716" "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMPfam_zf-C4_C,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors NR3C1 2908 hgsc.bcm.edu 36 5 142658506 142658506 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 142658506 142658506 C G SNP NR3C1 NM_001024094 human genbank 54_36p -1 reviewed missense c.1815 p.M605I 1 "superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" "HMMPfam_GCR,HMMSmart_ZnF_C4,superfamily_SSF57716,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors NRG2 9542 hgsc.bcm.edu 36 5 139225327 139225327 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 139225327 139225327 G T SNP NRG2 NM_013982 human genbank 54_36p -1 reviewed missense c.1180 p.P394T 1 superfamily_SSF57196 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Neuregulin" - no_errors ODZ2 57451 hgsc.bcm.edu 36 5 167622010 167622010 + Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 167622010 167622010 A - DEL ODZ2 ENST00000388903 human ensembl 54_36p 1 known frame_shift_del c.7939 p.N2647fs 1 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[167621632,167622393])" no_errors OSMR 9180 hgsc.bcm.edu 36 5 38917468 38917468 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 38917468 38917468 C G SNP OSMR NM_003999 human genbank 54_36p 1 reviewed missense c.263 p.T88S 0.89 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors OXCT1 5019 hgsc.bcm.edu 36 5 41798052 41798052 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 41798052 41798052 A T SNP OXCT1 NM_000436 human genbank 54_36p -1 reviewed missense c.1256 p.M419K 1 "superfamily_SSF100950,HMMPfam_CoA_trans" "superfamily_SSF100950,HMMPfam_CoA_trans,PatternScan_COA_TRANSF_1,PatternScan_COA_TRANSF_2" - no_errors OXCT1 5019 hgsc.bcm.edu 36 5 41898503 41898503 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 41898503 41898503 C A SNP OXCT1 NM_000436 human genbank 54_36p -1 reviewed missense c.185 p.G62V 1 "PatternScan_COA_TRANSF_1,HMMPfam_CoA_trans,superfamily_SSF100950" "PatternScan_COA_TRANSF_1,PatternScan_COA_TRANSF_2,HMMPfam_CoA_trans,superfamily_SSF100950" - no_errors PCDH12 51294 hgsc.bcm.edu 36 5 141317324 141317324 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 141317324 141317324 C G SNP PCDH12 NM_016580 human genbank 54_36p -1 reviewed missense c.277 p.D93H 1 "superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors CDHR2 54825 hgsc.bcm.edu 36 5 175928408 175928408 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 175928408 175928408 G T SNP PCDH24 NM_017675 human genbank 54_36p 1 reviewed missense c.248 p.S83I 0 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" - no_errors PCDHAC1 56135 hgsc.bcm.edu 36 5 140286718 140286718 + Silent SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 140286718 140286718 G A SNP PCDHAC1 NM_018898 human genbank 54_36p 1 reviewed silent c.57 p.A19 0.01 superfamily_Cadherin-like "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB15 56121 hgsc.bcm.edu 36 5 140605479 140605481 + In_Frame_Del DEL ATG ATG - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 ATG ATG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 140605479 140605481 ATG - DEL PCDHB15 NM_018935 human genbank 54_36p 1 reviewed in_frame_del c.149_151 p.D51in_frame_del 0.982:0.984:1.000 "HMMPfam_Cadherin_2,superfamily_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" "(deletion:cds_exon[140605331,140607694])" no_errors PCDHB15 56121 hgsc.bcm.edu 36 5 140606488 140606488 + Silent SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 140606488 140606488 G A SNP PCDHB15 NM_018935 human genbank 54_36p 1 reviewed silent c.1158 p.Q386 0 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB5 26167 hgsc.bcm.edu 36 5 140497565 140497565 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 140497565 140497565 C T SNP PCDHB5 NM_015669 human genbank 54_36p 1 reviewed missense c.2365 p.R789W 0 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHGB4 8641 hgsc.bcm.edu 36 5 140748197 140748197 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 140748197 140748197 G - DEL PCDHGB4 NM_003736 human genbank 54_36p 1 reviewed frame_shift_del c.562 p.G188fs 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" "(deletion:cds_exon[140747636,140750032])" no_errors PCDHGC4 56098 hgsc.bcm.edu 36 5 140846674 140846674 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 140846674 140846674 G C SNP PCDHGC4 NM_018928 human genbank 54_36p 1 reviewed missense c.1750 p.V584L 0.36 superfamily_Cadherin-like "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCSK1 5122 hgsc.bcm.edu 36 5 95754502 95754502 + Silent SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 95754502 95754502 G A SNP PCSK1 NM_000439 human genbank 54_36p -1 reviewed silent c.2221 p.L741 1 NULL "superfamily_Prot_inh_propept,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Gal_bind_like,HMMPfam_P_proprotein" - no_errors PCSK1 5122 hgsc.bcm.edu 36 5 95787360 95787360 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 95787360 95787360 C G SNP PCSK1 NM_000439 human genbank 54_36p -1 reviewed missense c.316 p.E106Q 1 NULL "HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Pept_S8_S53,HMMPfam_P_proprotein,superfamily_Gal_bind_like,superfamily_Prot_inh_propept" - no_errors PDE8B 8622 hgsc.bcm.edu 36 5 76657161 76657161 + Silent SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 76657161 76657161 C A SNP PDE8B NM_003719 human genbank 54_36p 1 validated silent c.441 p.G147 1 HMMPfam_Response_reg "HMMPfam_PDE8,HMMPfam_Response_reg,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDGFRB 5159 hgsc.bcm.edu 36 5 149492605 149492605 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 149492605 149492605 T G SNP PDGFRB NM_002609 human genbank 54_36p -1 reviewed missense c.1028 p.Y343S 1 "superfamily_SSF48726,HMMSmart_IG" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors PDZD2 23037 hgsc.bcm.edu 36 5 32125880 32125880 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 32125880 32125880 T - DEL PDZD2 NM_178140 human genbank 54_36p 1 reviewed frame_shift_del c.6569 p.L2190fs 0 NULL "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ,PatternScan_PROTEIN_KINASE_ATP" "(deletion:cds_exon[32122994,32127038])" no_errors PIK3R1 5295 hgsc.bcm.edu 36 5 67623842 67623842 + Splice_Site SNP G G C novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 67623842 67623842 G C SNP PIK3R1 NM_181523 human genbank 54_36p 1 reviewed splice_site c.917-1 e7-1 1 - - - no_errors PPAP2A 8611 hgsc.bcm.edu 36 5 54757623 54757623 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 54757623 54757623 A C SNP PPAP2A NM_176895 human genbank 54_36p -1 reviewed missense c.554 p.L185R 1 "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors PPWD1 23398 hgsc.bcm.edu 36 5 64908589 64908589 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 64908589 64908589 C G SNP PPWD1 NM_015342 human genbank 54_36p 1 validated missense c.1097 p.T366S 1 superfamily_WD40_like "PatternScan_CSA_PPIASE_1,PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase" - no_errors PRR16 51334 hgsc.bcm.edu 36 5 120049708 120049708 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 120049708 120049708 C A SNP PRR16 NM_016644 human genbank 54_36p 1 provisional missense c.251 p.P84Q 0.95 NULL NULL - no_errors RANBP3L 202151 hgsc.bcm.edu 36 5 36337238 36337238 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 36337238 36337238 G A SNP RANBP3L NM_145000 human genbank 54_36p -1 provisional missense c.38 p.P13L 0 NULL "superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1" - no_errors RAPGEF6 51735 hgsc.bcm.edu 36 5 130794642 130794642 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 130794642 130794642 T G SNP RAPGEF6 NM_016340 human genbank 54_36p -1 provisional missense c.4274 p.K1425T 0.99 NULL "superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00147,HMMPfam_RasGEF" - no_errors RAPGEF6 51735 hgsc.bcm.edu 36 5 130843272 130843272 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T G G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 130843272 130843272 T G SNP RAPGEF6 NM_016340 human genbank 54_36p -1 provisional missense c.1914 p.K638N 1 superfamily_Ras GEF "HMMPfam_RA,HMMSmart_SM00314,HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_cAMP-binding domain-like" - no_errors RASGRF2 5924 hgsc.bcm.edu 36 5 80445321 80445321 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 80445321 80445321 C G SNP RASGRF2 NM_006909 human genbank 54_36p 1 validated missense c.2296 p.P766A 0.6 "superfamily_Ras GEF,HMMPfam_RasGEF_N" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors SDHA 6389 hgsc.bcm.edu 36 5 309484 309485 + Frame_Shift_Del DEL TT TT - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 TT TT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 309484 309485 TT - DEL SDHA NM_004168 human genbank 54_36p 1 reviewed frame_shift_del c.1944_1945 p.L649fs 0.998:0.999 "superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein C-terminal domain,HMMPfam_Succ_DH_flav_C" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[309449,309535])" no_errors SEMA5A 9037 hgsc.bcm.edu 36 5 9119612 9119612 + Silent SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 9119612 9119612 C T SNP SEMA5A NM_003966 human genbank 54_36p -1 validated silent c.2220 p.P740 0 NULL "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1" - no_errors SH3TC2 79628 hgsc.bcm.edu 36 5 148364640 148364640 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 148364640 148364640 C T SNP SH3TC2 NM_024577 human genbank 54_36p -1 reviewed missense c.3694 p.E1232K 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_SH3_1,HMMSmart_SM00326,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors SLC30A5 64924 hgsc.bcm.edu 36 5 68448173 68448173 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 68448173 68448173 G T SNP SLC30A5 NM_022902 human genbank 54_36p 1 provisional missense c.1269 p.L423F 1 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors SLC34A1 6569 hgsc.bcm.edu 36 5 176747743 176747743 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 176747743 176747743 G A SNP SLC34A1 NM_003052 human genbank 54_36p 1 validated missense c.787 p.A263T 1 HMMPfam_Na_Pi_cotrans HMMPfam_Na_Pi_cotrans - no_errors SLC36A3 285641 hgsc.bcm.edu 36 5 150637296 150637296 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 150637296 150637296 C G SNP SLC36A3 NM_181774 human genbank 54_36p -1 validated missense c.1264 p.E422Q 0.97 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors SLC6A3 6531 hgsc.bcm.edu 36 5 1454057 1454057 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 1454057 1454057 C T SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated silent c.1812 p.V604 0.99 NULL "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLCO4C1 353189 hgsc.bcm.edu 36 5 101613318 101613318 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 101613318 101613318 C T SNP SLCO4C1 NM_180991 human genbank 54_36p -1 validated missense c.1543 p.V515I 0.27 "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895,HMMPfam_Kazal_2" "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895,HMMPfam_Kazal_2" - no_errors SLCO6A1 133482 hgsc.bcm.edu 36 5 101737011 101737011 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G T T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 101737011 101737011 G T SNP SLCO6A1 NM_173488 human genbank 54_36p -1 validated missense c.2104 p.P702T 0 NULL "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SLIT3 6586 hgsc.bcm.edu 36 5 168043640 168043640 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 168043640 168043640 C A SNP SLIT3 NM_003062 human genbank 54_36p -1 validated nonsense c.3595 p.G1199* 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors SLU7 10569 hgsc.bcm.edu 36 5 159773958 159773958 + Silent SNP T T C novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 159773958 159773958 T C SNP SLU7 NM_006425 human genbank 54_36p -1 reviewed silent c.270 p.E90 1 NULL NULL - no_errors SNCAIP 9627 hgsc.bcm.edu 36 5 121814172 121814172 + Silent SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 121814172 121814172 A G SNP SNCAIP NM_005460 human genbank 54_36p 1 reviewed silent c.1731 p.P577 0.61 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" - no_errors SNCB 6620 hgsc.bcm.edu 36 5 175980868 175980868 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 175980868 175980868 C T SNP SNCB NM_001001502 human genbank 54_36p -1 reviewed missense c.325 p.E109K 1 HMMPfam_Synuclein HMMPfam_Synuclein - no_errors SOX30 11063 hgsc.bcm.edu 36 5 156986010 156986010 + Silent SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 156986010 156986010 C T SNP SOX30 NM_178424 human genbank 54_36p -1 reviewed silent c.2178 p.P726 0.07 NULL "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors SPEF2 79925 hgsc.bcm.edu 36 5 35680326 35680326 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 35680326 35680326 A G SNP SPEF2 NM_024867 human genbank 54_36p 1 validated missense c.527 p.E176G 0.48 NULL "HMMPfam_DUF1042,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_hATC" - no_errors SPINK5 11005 hgsc.bcm.edu 36 5 147480068 147480068 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 147480068 147480068 A - DEL SPINK5 NM_006846 human genbank 54_36p 1 reviewed frame_shift_del c.2459 p.K823fs 1 "HMMSmart_KAZAL,HMMPfam_Kazal_2" "superfamily_SSF100895,HMMPfam_Kazal_2,HMMSmart_KAZAL,PatternScan_KAZAL,HMMPfam_Kazal_1" "(deletion:cds_exon[147480051,147480147])" no_errors STK10 6793 hgsc.bcm.edu 36 5 171424401 171424401 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 171424401 171424401 C A SNP STK10 NM_005990 human genbank 54_36p -1 reviewed missense c.2010 p.K670N 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors STK10 6793 hgsc.bcm.edu 36 5 171453345 171453345 + Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 171453345 171453345 C - DEL STK10 NM_005990 human genbank 54_36p -1 reviewed frame_shift_del c.1230 p.R411fs 0.04 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "(deletion:cds_exon[171453021,171453569])" no_errors TARS 6897 hgsc.bcm.edu 36 5 33496903 33496903 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 33496903 33496903 C G SNP TARS NM_152295 human genbank 54_36p 1 reviewed missense c.1390 p.H464D 1 "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b" "HMMPfam_TGS,superfamily_TGS-like,superfamily_ThrRS/AlaRS common domain,HMMPfam_tRNA_SAD,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors TIMD4 91937 hgsc.bcm.edu 36 5 156285901 156285901 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 156285901 156285901 G T SNP TIMD4 NM_138379 human genbank 54_36p -1 provisional missense c.845 p.A282E 0 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors TIMD4 91937 hgsc.bcm.edu 36 5 156314073 156314073 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 156314073 156314073 A T SNP TIMD4 NM_138379 human genbank 54_36p -1 provisional missense c.331 p.C111S 1 "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors TRIM23 373 hgsc.bcm.edu 36 5 64940959 64940959 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 64940959 64940959 T C SNP TRIM23 NM_001656 human genbank 54_36p -1 reviewed missense c.911 p.E304G 1 HMMSmart_SM00502 ############################################################################################################################################################################################################################################################### - no_errors TRIM36 55521 hgsc.bcm.edu 36 5 114510804 114510804 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 114510804 114510804 G A SNP TRIM36 NM_018700 human genbank 54_36p -1 reviewed missense c.485 p.P162L 1 superfamily_RING/U-box "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors TRIM36 55521 hgsc.bcm.edu 36 5 114510861 114510861 + Missense_Mutation SNP T T A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 114510861 114510861 T A SNP TRIM36 NM_018700 human genbank 54_36p -1 reviewed missense c.428 p.E143V 1 superfamily_RING/U-box "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,HMMPfam_fn3,superfamily_Fibronectin type III,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_B-box zinc-binding domain,superfamily_RING/U-box" - no_errors TRIO 7204 hgsc.bcm.edu 36 5 14535753 14535753 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 14535753 14535753 T A SNP TRIO NM_007118 human genbank 54_36p 1 validated missense c.6528 p.D2176E 0.9 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" ############################################################################################################################################################################################################################################################### - no_errors TRIP13 9319 hgsc.bcm.edu 36 5 967604 967604 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 967604 967604 C T SNP TRIP13 NM_004237 human genbank 54_36p 1 provisional nonsense c.1045 p.Q349* 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors TTC33 23548 hgsc.bcm.edu 36 5 40752165 40752165 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 40752165 40752165 C A SNP TTC33 NM_012382 human genbank 54_36p -1 validated nonsense c.628 p.E210* 1 NULL "HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like" - no_errors TXNDC15 79770 hgsc.bcm.edu 36 5 134238105 134238105 + Frame_Shift_Del DEL T T - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 134238105 134238105 T - DEL TXNDC15 NM_024715 human genbank 54_36p 1 validated frame_shift_del c.89 p.V30fs 0.98 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" "(deletion:cds_exon[134238017,134238119])" no_errors TXNDC15 79770 hgsc.bcm.edu 36 5 134257108 134257108 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 134257108 134257108 G A SNP TXNDC15 NM_024715 human genbank 54_36p 1 validated missense c.619 p.G207S 0.99 "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" - no_errors UBLCP1 134510 hgsc.bcm.edu 36 5 158637839 158637839 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 5 158637839 158637839 G A SNP UBLCP1 NM_145049 human genbank 54_36p 1 validated missense c.700 p.V234I 1 "superfamily_HAD-like,HMMPfam_NIF,HMMSmart_SM00577" "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,superfamily_HAD-like,HMMPfam_NIF,HMMSmart_SM00577" - no_errors UGT3A2 167127 hgsc.bcm.edu 36 5 36071585 36071585 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 36071585 36071585 C T SNP UGT3A2 NM_174914 human genbank 54_36p -1 provisional missense c.1544 p.R515H 0.18 HMMPfam_UDPGT "superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UIMC1 51720 hgsc.bcm.edu 36 5 176328333 176328333 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 176328333 176328333 A C SNP UIMC1 NM_016290 human genbank 54_36p -1 provisional missense c.1029 p.S343R 0.99 NULL "HMMPfam_UIM,HMMSmart_SM00726" - no_errors VCAN 1462 hgsc.bcm.edu 36 5 82852061 82852061 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 82852061 82852061 C T SNP VCAN NM_004385 human genbank 54_36p 1 validated missense c.2180 p.S727F 0 NULL ############################################################################################################################################################################################################################################################### - no_errors WDR70 55100 hgsc.bcm.edu 36 5 37738825 37738825 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 37738825 37738825 G C SNP WDR70 NM_018034 human genbank 54_36p 1 provisional missense c.1295 p.S432T 1 superfamily_WD40_like "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ZCCHC9 84240 hgsc.bcm.edu 36 5 80644194 80644194 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 5 80644194 80644194 C T SNP ZCCHC9 NM_032280 human genbank 54_36p 1 validated missense c.773 p.P258L 0.32 NULL "superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors ZNF354A 6940 hgsc.bcm.edu 36 5 178072848 178072848 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 5 178072848 178072848 G A SNP ZNF354A NM_005649 human genbank 54_36p -1 validated missense c.637 p.R213C 1 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors AARS2 57505 hgsc.bcm.edu 36 6 44387954 44387954 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 44387954 44387954 C T SNP AARS2 NM_020745 human genbank 54_36p -1 validated missense c.268 p.V90M 0.87 "superfamily_SSF55681,HMMPfam_tRNA-synt_2c" "superfamily_SSF55681,HMMPfam_tRNA-synt_2c,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,HMMPfam_tRNA_SAD" - no_errors ABCF1 23 hgsc.bcm.edu 36 6 30661705 30661705 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 30661705 30661705 G C SNP ABCF1 NM_001025091 human genbank 54_36p 1 reviewed missense c.1671 p.K557N 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCF1 23 hgsc.bcm.edu 36 6 30666446 30666446 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 30666446 30666446 C T SNP ABCF1 NM_001025091 human genbank 54_36p 1 reviewed missense c.2527 p.P843S 0.96 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABT1 29777 hgsc.bcm.edu 36 6 26706233 26706233 + Silent SNP C C G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 26706233 26706233 C G SNP ABT1 NM_013375 human genbank 54_36p 1 reviewed silent c.354 p.A118 1 superfamily_SSF54928 superfamily_SSF54928 - no_errors ACAT2 39 hgsc.bcm.edu 36 6 160103950 160103950 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 160103950 160103950 A G SNP ACAT2 NM_005891 human genbank 54_36p 1 reviewed missense c.65 p.N22S 1 "HMMPfam_Thiolase_N,superfamily_Thiolase-like" "PatternScan_THIOLASE_1,HMMPfam_Thiolase_N,superfamily_Thiolase-like,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors AKAP12 9590 hgsc.bcm.edu 36 6 151668733 151668733 + Splice_Site SNP T T G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 151668733 151668733 T G SNP AKAP12 NM_005100 human genbank 54_36p 1 reviewed splice_site c.319+2 e2+2 0.81 - - - no_errors ARID1B 57492 hgsc.bcm.edu 36 6 157569688 157569689 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 157569688 157569689 - T INS ARID1B NM_017519 human genbank 54_36p 1 validated frame_shift_ins c.5667_5668 p.Q1889fs 0.997:1.000 NULL "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors ARID1B 57492 hgsc.bcm.edu 36 6 157569693 157569693 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 157569693 157569693 A C SNP ARID1B NM_017519 human genbank 54_36p 1 validated missense c.5672 p.Q1891P 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like" - no_errors ASCC3 10973 hgsc.bcm.edu 36 6 101072612 101072612 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 101072612 101072612 T C SNP ASCC3 NM_006828 human genbank 54_36p -1 validated missense c.5903 p.E1968G 0.99 "HMMSmart_SEC63,HMMPfam_Sec63" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_AAA,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMSmart_SEC63,HMMPfam_Sec63" - no_errors B3GAT2 135152 hgsc.bcm.edu 36 6 71660655 71660655 + Silent SNP C C G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 71660655 71660655 C G SNP B3GAT2 NM_080742 human genbank 54_36p -1 reviewed silent c.633 p.L211 0.97 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_43" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_43" - no_errors BACH2 60468 hgsc.bcm.edu 36 6 90698874 90698874 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 90698874 90698874 C A SNP BACH2 NM_021813 human genbank 54_36p -1 validated nonsense c.2500 p.E834* 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_Euk_transcr_DNA,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors BACH2 60468 hgsc.bcm.edu 36 6 90775173 90775173 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 90775173 90775173 C T SNP BACH2 NM_021813 human genbank 54_36p -1 validated missense c.112 p.D38N 1 "HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB" "HMMSmart_BTB,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,superfamily_Euk_transcr_DNA,superfamily_BTB/POZ_fold,HMMPfam_bZIP_1,HMMPfam_BTB" - no_errors BAI3 577 hgsc.bcm.edu 36 6 69722751 69722751 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 69722751 69722751 G A SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.1310 p.C437Y 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 577 hgsc.bcm.edu 36 6 69760463 69760463 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 69760463 69760463 C A SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.1817 p.T606N 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 577 hgsc.bcm.edu 36 6 69760509 69760509 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 69760509 69760509 G T SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.1863 p.E621D 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAT3 7917 hgsc.bcm.edu 36 6 31722165 31722165 + Silent SNP C C T novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 31722165 31722165 C T SNP BAT3 NM_004639 human genbank 54_36p -1 reviewed silent c.921 p.T307 0.99 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" - no_errors BAT5 7920 hgsc.bcm.edu 36 6 31777860 31777860 + Silent SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 31777860 31777860 C T SNP BAT5 NM_021160 human genbank 54_36p -1 reviewed silent c.159 p.L53 1 NULL "superfamily_SSF53474,HMMPfam_Abhydrolase_1" - no_errors BEND3 57673 hgsc.bcm.edu 36 6 107496760 107496760 + Silent SNP C C T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 107496760 107496760 C T SNP BEND3 NM_001080450 human genbank 54_36p -1 provisional silent c.2328 p.R776 0.71 HMMPfam_BEN HMMPfam_BEN - no_errors BMP5 653 hgsc.bcm.edu 36 6 55847362 55847362 + Silent SNP G G T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 55847362 55847362 G T SNP BMP5 NM_021073 human genbank 54_36p -1 reviewed silent c.261 p.A87 1 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors BRD2 6046 hgsc.bcm.edu 36 6 33051792 33051792 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 33051792 33051792 G A SNP BRD2 NM_005104 human genbank 54_36p 1 reviewed missense c.478 p.D160N 1 "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BTN2A1 11120 hgsc.bcm.edu 36 6 26571485 26571486 + Frame_Shift_Del DEL CC CC - novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 26571485 26571486 CC - DEL BTN2A1 NM_007049 human genbank 54_36p 1 reviewed frame_shift_del c.465_466 p.H156fs 0.000:0.000 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" "(deletion:cds_exon[26571451,26571732])" no_errors RPF2 84154 hgsc.bcm.edu 36 6 111427607 111427607 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 111427607 111427607 G T SNP BXDC1 NM_032194 human genbank 54_36p 1 validated missense c.317 p.G106V 1 HMMPfam_Brix HMMPfam_Brix - no_errors C4A 720 hgsc.bcm.edu 36 6 32104549 32104549 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 32104549 32104549 A C SNP C4A NM_007293 human genbank 54_36p 1 reviewed missense c.3332 p.Q1111P 0.91 "superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp" ############################################################################################################################################################################################################################################################### - no_errors C6orf132 647024 hgsc.bcm.edu 36 6 42218142 42218142 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 42218142 42218142 C - DEL C6orf132 XM_930012 human genbank 54_36p -1 model frame_shift_del c.19 p.V7fs 0.97 NULL NULL "(deletion:cds_exon[42218016,42218160])" no_errors ATAT1 79969 hgsc.bcm.edu 36 6 30717948 30717948 + Silent SNP G G A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 30717948 30717948 G A SNP C6orf134 NM_024909 human genbank 54_36p 1 validated silent c.669 p.L223 1 NULL HMMPfam_DUF738 - no_errors C6orf142 90523 hgsc.bcm.edu 36 6 54174992 54174992 + Splice_Site SNP T T C novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 54174992 54174992 T C SNP C6orf142 NM_138569 human genbank 54_36p 1 validated splice_site c.1113+2 e10+2 1 - - - no_errors RRP36 88745 hgsc.bcm.edu 36 6 43101003 43101003 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 43101003 43101003 C G SNP C6orf153 NM_033112 human genbank 54_36p 1 predicted missense c.303 p.I101M 0.91 HMMPfam_DUF947 HMMPfam_DUF947 - no_errors C6orf167 253714 hgsc.bcm.edu 36 6 97836995 97836995 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 97836995 97836995 G A SNP C6orf167 NM_198468 human genbank 54_36p -1 predicted missense c.80 p.P27L 1 NULL NULL - no_errors C6orf168 84553 hgsc.bcm.edu 36 6 99846374 99846374 + Silent SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 99846374 99846374 G A SNP C6orf168 NM_032511 human genbank 54_36p -1 validated silent c.867 p.D289 1 "HMMPfam_Tom37,superfamily_Glutathione S-transferase (GST) C-terminal domain" "superfamily_Thioredoxin-like,HMMPfam_Tom37,superfamily_Glutathione S-transferase (GST) C-terminal domain" - no_errors C6orf27 80737 hgsc.bcm.edu 36 6 31841522 31841522 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 31841522 31841522 C T SNP C6orf27 NM_025258 human genbank 54_36p -1 validated missense c.2504 p.R835Q 0.71 NULL "HMMSmart_VWA,superfamily_SSF53300" - no_errors C6orf81 221481 hgsc.bcm.edu 36 6 35824353 35824353 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 35824353 35824353 G T SNP C6orf81 NM_145028 human genbank 54_36p 1 predicted missense c.832 p.V278L 0.65 "HMMPfam_DUF634,superfamily_ARM-type_fold" "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors CASP8AP2 9994 hgsc.bcm.edu 36 6 90628743 90628743 + Silent SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 90628743 90628743 G A SNP CASP8AP2 ENST00000237177 human ensembl 54_36p 1 known silent c.594 p.L198 0.18 NULL superfamily_Homeodomain-like - no_stop_codon CNPY3 10695 hgsc.bcm.edu 36 6 43013519 43013519 + Silent SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 43013519 43013519 C T SNP CNPY3 NM_006586 human genbank 54_36p 1 validated silent c.459 p.N153 1 NULL NULL - no_errors COL11A2 1302 hgsc.bcm.edu 36 6 33240616 33240616 + Silent SNP G G A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 33240616 33240616 G A SNP COL11A2 NM_080680 human genbank 54_36p -1 reviewed silent c.4854 p.D1618 0.98 "HMMSmart_SM00038,HMMPfam_COLFI" "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL11A2 1302 hgsc.bcm.edu 36 6 33262569 33262569 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 33262569 33262569 T A SNP COL11A2 NM_080680 human genbank 54_36p -1 reviewed missense c.611 p.D204V 1 "HMMSmart_SM00282,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00282,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors COL12A1 1303 hgsc.bcm.edu 36 6 75912586 75912586 + Silent SNP G G A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 75912586 75912586 G A SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed silent c.4512 p.I1504 0.04 "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00210,HMMPfam_Collagen" - no_errors COL12A1 1303 hgsc.bcm.edu 36 6 75912599 75912599 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 75912599 75912599 G C SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed missense c.4499 p.A1500G 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL9A1 1297 hgsc.bcm.edu 36 6 71060652 71060652 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 71060652 71060652 A G SNP COL9A1 NM_001851 human genbank 54_36p -1 reviewed missense c.635 p.I212T 0.75 "HMMSmart_TSPN,superfamily_ConA_like_lec_gl" "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen" - no_errors DAXX 1616 hgsc.bcm.edu 36 6 33395474 33395474 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 33395474 33395474 G T SNP DAXX NM_001350 human genbank 54_36p -1 reviewed nonsense c.1601 p.S534* 0 HMMPfam_Daxx HMMPfam_Daxx - no_errors DDO 8528 hgsc.bcm.edu 36 6 110820934 110820934 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 110820934 110820934 G - DEL DDO NM_003649 human genbank 54_36p -1 reviewed frame_shift_del c.847 p.L283fs 0.9 "superfamily_Nucleotide-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain" "superfamily_Nucleotide-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain,PatternScan_DAO" "(deletion:cds_exon[110820671,110821238])" no_errors DDO 8528 hgsc.bcm.edu 36 6 110821236 110821236 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 110821236 110821236 A C SNP DDO NM_003649 human genbank 54_36p -1 reviewed missense c.545 p.I182R 0.25 "HMMPfam_DAO,superfamily_Nucleotide-binding domain" "HMMPfam_DAO,PatternScan_DAO,superfamily_Nucleotide-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors DDR1 780 hgsc.bcm.edu 36 6 30964747 30964747 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 30964747 30964747 A G SNP DDR1 NM_013994 human genbank 54_36p 1 reviewed missense c.169 p.T57A 1 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C" ############################################################################################################################################################################################################################################################### - no_errors DNAH8 1769 hgsc.bcm.edu 36 6 38959736 38959736 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 38959736 38959736 A T SNP DNAH8 NM_001371 human genbank 54_36p 1 validated missense c.7592 p.N2531I 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5" "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DOPEY1 23033 hgsc.bcm.edu 36 6 83879848 83879848 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 83879848 83879848 C A SNP DOPEY1 NM_015018 human genbank 54_36p 1 validated missense c.769 p.H257N 1 HMMPfam_Dopey_N HMMPfam_Dopey_N - no_errors DST 667 hgsc.bcm.edu 36 6 56530246 56530246 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 56530246 56530246 T A SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.7579 p.T2527S 0.99 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors DST 667 hgsc.bcm.edu 36 6 56533084 56533084 + Frame_Shift_Del DEL C C - novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 56533084 56533084 C - DEL DST NM_183380 human genbank 54_36p -1 reviewed frame_shift_del c.7516 p.A2506fs 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[56533051,56533180])" no_errors DST 667 hgsc.bcm.edu 36 6 56591591 56591591 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 56591591 56591591 G T SNP DST NM_001723 human genbank 54_36p -1 reviewed missense c.5200 p.H1734N 1 NULL "HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin" - no_errors DTNBP1 84062 hgsc.bcm.edu 36 6 15760329 15760329 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 15760329 15760329 C A SNP DTNBP1 NM_032122 human genbank 54_36p -1 reviewed missense c.78 p.K26N 1 NULL HMMPfam_Dysbindin - no_errors ENPP3 5169 hgsc.bcm.edu 36 6 132089035 132089035 + Splice_Site SNP T T C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 132089035 132089035 T C SNP ENPP3 NM_005021 human genbank 54_36p 1 reviewed splice_site c.1953+2 e20+2 0.98 - - - no_errors EPHA7 2045 hgsc.bcm.edu 36 6 94024620 94024620 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 94024620 94024620 C A SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.2028 p.R676S 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors EXOC2 55770 hgsc.bcm.edu 36 6 582784 582802 + Frame_Shift_Del DEL CCGGTCACAAGGGGGGGTT CCGGTCACAAGGGGGGGTT - novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 CCGGTCACAAGGGGGGGTT CCGGTCACAAGGGGGGGTT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 582784 582802 CCGGTCACAAGGGGGGGTT - DEL EXOC2 NM_018303 human genbank 54_36p -1 reviewed frame_shift_del c.35_17 p.Q6fs 1.000:1.000:0.957:1.000:1.000:0.997:1.000:1.000:0.998:0.999:0.962:0.566:1.000:1.000:1.000:1.000:1.000:0.997:1.000 superfamily_Ig_E-set "superfamily_Ig_E-set,HMMPfam_TIG" "(deletion:cds_exon[582701,582818])" no_errors EZR 7430 hgsc.bcm.edu 36 6 159126601 159126601 + Silent SNP C C A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C A A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 159126601 159126601 C A SNP EZR NM_003379 human genbank 54_36p -1 reviewed silent c.195 p.V65 0.92 "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1" "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin" - no_errors F13A1 2162 hgsc.bcm.edu 36 6 6167388 6167388 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 6167388 6167388 C A SNP F13A1 NM_000129 human genbank 54_36p -1 reviewed missense c.989 p.G330V 1 "superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES" "superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglut_C,HMMPfam_Transglut_C" - no_errors F13A1 2162 hgsc.bcm.edu 36 6 6250670 6250670 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 6250670 6250670 G A SNP F13A1 NM_000129 human genbank 54_36p -1 reviewed missense c.232 p.R78C 0.94 "HMMPfam_Transglut_N,superfamily_Ig_E-set" "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_TGc,HMMPfam_Transglut_C,superfamily_Transglut_C,PatternScan_TRANSGLUTAMINASES,superfamily_Ig_E-set,superfamily_SSF54001" - no_errors FAM83B 222584 hgsc.bcm.edu 36 6 54843423 54843423 + Silent SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 54843423 54843423 G A SNP FAM83B NM_001010872 human genbank 54_36p 1 validated silent c.420 p.R140 1 "HMMPfam_DUF1669,superfamily_SSF56024" "HMMPfam_DUF1669,superfamily_SSF56024" - no_errors FAM83B 222584 hgsc.bcm.edu 36 6 54913194 54913194 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 54913194 54913194 A G SNP FAM83B NM_001010872 human genbank 54_36p 1 validated missense c.1466 p.K489R 1 NULL "HMMPfam_DUF1669,superfamily_SSF56024" - no_errors FBXO30 84085 hgsc.bcm.edu 36 6 146167274 146167274 + Missense_Mutation SNP C C T rs35721211 Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 146167274 146167274 C T SNP FBXO30 NM_032145 human genbank 54_36p -1 reviewed missense c.1961 p.R654H 1 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX" "superfamily_Traf_like,superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX" - no_errors FIG4 9896 hgsc.bcm.edu 36 6 110194626 110194626 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 110194626 110194626 T G SNP FIG4 NM_014845 human genbank 54_36p 1 reviewed missense c.1585 p.L529V 1 NULL HMMPfam_Syja_N - no_errors FRMD1 79981 hgsc.bcm.edu 36 6 168207252 168207252 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 168207252 168207252 G A SNP FRMD1 NM_024919 human genbank 54_36p -1 validated missense c.682 p.R228W 0.99 "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C" - no_errors FRS3 10817 hgsc.bcm.edu 36 6 41848568 41848568 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 41848568 41848568 G A SNP FRS3 NM_006653 human genbank 54_36p -1 reviewed missense c.361 p.R121C 1 NULL "superfamily_SSF50729,HMMPfam_IRS,HMMSmart_PTBI" - no_errors FRS3 10817 hgsc.bcm.edu 36 6 41848652 41848652 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 41848652 41848652 G A SNP FRS3 NM_006653 human genbank 54_36p -1 reviewed missense c.277 p.R93W 1 "HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729" "HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729" - no_errors FTSJD2 23070 hgsc.bcm.edu 36 6 37537317 37537317 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 37537317 37537317 G C SNP FTSJD2 NM_015050 human genbank 54_36p 1 validated missense c.1110 p.E370D 1 "HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMSmart_SM00443,HMMPfam_G-patch,HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1" - no_errors FUCA2 2519 hgsc.bcm.edu 36 6 143867019 143867019 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 143867019 143867019 C T SNP FUCA2 NM_032020 human genbank 54_36p -1 validated missense c.476 p.R159K 1 "HMMPfam_Alpha_L_fucos,superfamily_Glyco_hydro_cat,HMMSmart_Alpha_L_fucos" "HMMPfam_Alpha_L_fucos,superfamily_Glyco_hydro_cat,HMMSmart_Alpha_L_fucos,PatternScan_ALPHA_L_FUCOSIDASE" - no_errors GCNT2 2651 hgsc.bcm.edu 36 6 10665269 10665269 + Silent SNP A A G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 10665269 10665269 A G SNP GCNT2 NM_001491 human genbank 54_36p 1 reviewed silent c.627 p.K209 0.81 HMMPfam_Branch HMMPfam_Branch - no_errors GPRC6A 222545 hgsc.bcm.edu 36 6 117237275 117237275 + Silent SNP A A G novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 117237275 117237275 A G SNP GPRC6A NM_148963 human genbank 54_36p -1 validated silent c.393 p.C131 0.99 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3" - no_errors GRM1 2911 hgsc.bcm.edu 36 6 146392385 146392385 + Silent SNP T T C novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 146392385 146392385 T C SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed silent c.39 p.F13 0.54 NULL "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg" - no_errors GRM1 2911 hgsc.bcm.edu 36 6 146392605 146392605 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 146392605 146392605 G C SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed missense c.259 p.D87H 1 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg,superfamily_SSF53822" - no_errors GRM1 2911 hgsc.bcm.edu 36 6 146392817 146392817 + Silent SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 146392817 146392817 G A SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed silent c.471 p.A157 0.74 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg,superfamily_SSF53822" - no_errors GRM1 2911 hgsc.bcm.edu 36 6 146393031 146393031 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 146393031 146393031 G T SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed missense c.685 p.A229S 1 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg,superfamily_SSF53822" - no_errors GTF2H4 2968 hgsc.bcm.edu 36 6 30987899 30987899 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 30987899 30987899 A G SNP GTF2H4 NM_001517 human genbank 54_36p 1 validated missense c.955 p.T319A 1 HMMPfam_Tfb2 HMMPfam_Tfb2 - no_errors HACE1 57531 hgsc.bcm.edu 36 6 105284880 105284880 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 105284880 105284880 G A SNP HACE1 NM_020771 human genbank 54_36p -1 validated missense c.2618 p.S873L 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HACE1 57531 hgsc.bcm.edu 36 6 105351285 105351285 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 105351285 105351285 G T SNP HACE1 NM_020771 human genbank 54_36p -1 validated missense c.754 p.H252N 1 "HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors HERV-FRD 405754 hgsc.bcm.edu 36 6 11212995 11212995 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 11212995 11212995 T G SNP HERV-FRD NM_207582 human genbank 54_36p -1 provisional missense c.535 p.T179P 0 NULL HMMPfam_TLV_coat - no_errors HIST1H1C 3006 hgsc.bcm.edu 36 6 26164454 26164454 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 26164454 26164454 G A SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed missense c.182 p.A61V 1 "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,HMMPfam_Linker_histone" "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,HMMPfam_Linker_histone" - no_errors HIST1H1T 3010 hgsc.bcm.edu 36 6 26215997 26215997 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 26215997 26215997 C G SNP HIST1H1T NM_005323 human genbank 54_36p -1 reviewed missense c.304 p.G102R 0.99 "superfamily_SSF46785,HMMSmart_H15,HMMPfam_Linker_histone" "superfamily_SSF46785,HMMSmart_H15,HMMPfam_Linker_histone" - no_errors HIST1H3G 8355 hgsc.bcm.edu 36 6 26379302 26379302 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 26379302 26379302 C A SNP HIST1H3G NM_003534 human genbank 54_36p -1 reviewed missense c.290 p.C97F 1 "superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H3H 8357 hgsc.bcm.edu 36 6 27886100 27886100 + Silent SNP G G T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 27886100 27886100 G T SNP HIST1H3H NM_003536 human genbank 54_36p 1 reviewed silent c.270 p.V90 1 "superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H4E 8367 hgsc.bcm.edu 36 6 26313049 26313049 + Silent SNP G G C novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 26313049 26313049 G C SNP HIST1H4E NM_003545 human genbank 54_36p 1 reviewed silent c.198 p.V66 0.99 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HIVEP1 3096 hgsc.bcm.edu 36 6 12230599 12230599 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 12230599 12230599 G A SNP HIVEP1 NM_002114 human genbank 54_36p 1 validated missense c.2585 p.R862K 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HLA-DRB1 3123 hgsc.bcm.edu 36 6 32659926 32659926 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 32659926 32659926 G - DEL HLA-DRB1 NM_002124 human genbank 54_36p -1 reviewed frame_shift_del c.308 p.A103fs 0.91 "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_II_beta" "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_II_beta,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" "(deletion:cds_exon[32659858,32660133])" no_errors HSPA1L 3305 hgsc.bcm.edu 36 6 31886183 31886183 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 31886183 31886183 C G SNP HSPA1L NM_005527 human genbank 54_36p -1 reviewed missense c.1546 p.E516Q 1 "HMMPfam_HSP70,superfamily_SSF100920" "superfamily_SSF53067,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934" - no_errors IBTK 25998 hgsc.bcm.edu 36 6 82977993 82977993 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 82977993 82977993 G C SNP IBTK NM_015525 human genbank 54_36p -1 reviewed missense c.2307 p.D769E 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_RCC1/BLIP-II,HMMPfam_RCC1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors IGF2R 3482 hgsc.bcm.edu 36 6 160437543 160437543 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 160437543 160437543 C T SNP IGF2R NM_000876 human genbank 54_36p 1 reviewed silent c.6738 p.F2246 1 "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR" "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1" - no_errors IL17F 112744 hgsc.bcm.edu 36 6 52209902 52209902 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 52209902 52209902 T A SNP IL17F NM_052872 human genbank 54_36p -1 reviewed missense c.278 p.Y93F 0.91 "HMMPfam_IL17,superfamily_Cystine-knot cytokines" "HMMPfam_IL17,superfamily_Cystine-knot cytokines" - no_errors IL20RA 53832 hgsc.bcm.edu 36 6 137364735 137364735 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 137364735 137364735 C T SNP IL20RA NM_014432 human genbank 54_36p -1 reviewed missense c.1315 p.A439T 0 NULL "HMMPfam_IL10Ra-bind,superfamily_Fibronectin type III" - no_errors ITPR3 3710 hgsc.bcm.edu 36 6 33770806 33770806 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 33770806 33770806 A G SNP ITPR3 NM_002224 human genbank 54_36p 1 validated missense c.7913 p.H2638R 0.94 NULL "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR,HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_MIR,superfamily_SSF100909" - no_errors JARID2 3720 hgsc.bcm.edu 36 6 15605105 15605105 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 15605105 15605105 T G SNP JARID2 NM_004973 human genbank 54_36p 1 reviewed missense c.1670 p.I557S 1 HMMSmart_SM00545 "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2" - no_errors KATNA1 11104 hgsc.bcm.edu 36 6 149961129 149961129 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 149961129 149961129 G C SNP KATNA1 NM_007044 human genbank 54_36p -1 reviewed missense c.939 p.I313M 0.98 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Vps4_C" - no_errors KHDRBS2 202559 hgsc.bcm.edu 36 6 63053769 63053769 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 63053769 63053769 T G SNP KHDRBS2 NM_152688 human genbank 54_36p -1 validated missense c.44 p.D15A 1 NULL "HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1" - no_errors KIF6 221458 hgsc.bcm.edu 36 6 39671829 39671829 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 39671829 39671829 C A SNP KIF6 NM_145027 human genbank 54_36p -1 validated missense c.825 p.L275F 1 "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin" "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors LAMA2 3908 hgsc.bcm.edu 36 6 129517421 129517421 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G T T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 129517421 129517421 G T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.1106 p.R369L 0.99 "superfamily_ConA_like_lec_gl,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 hgsc.bcm.edu 36 6 129705303 129705303 + Silent SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 129705303 129705303 C T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed silent c.4434 p.N1478 1 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 hgsc.bcm.edu 36 6 129790663 129790663 + Missense_Mutation SNP A A T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 A A T T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 129790663 129790663 A T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.5939 p.E1980V 1 superfamily_ConA_like_lec_gl ############################################################################################################################################################################################################################################################### - no_errors LAMA4 3910 hgsc.bcm.edu 36 6 112568718 112568718 + Silent SNP A A G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 112568718 112568718 A G SNP LAMA4 NM_001105206 human genbank 54_36p -1 reviewed silent c.2913 p.S971 0.97 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_LAM_1,PatternScan_EGF_1,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" - no_errors LATS1 9113 hgsc.bcm.edu 36 6 150024869 150024869 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 150024869 150024869 G T SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed missense c.3082 p.P1028T 1 superfamily_Protein kinase-like (PK-like) "superfamily_UBA-like,HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C" - no_errors LRRC1 55227 hgsc.bcm.edu 36 6 53768081 53768081 + Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 53768081 53768081 C A SNP LRRC1 NM_018214 human genbank 54_36p 1 validated nonsense c.68 p.S23* 1 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors MAN1A1 4121 hgsc.bcm.edu 36 6 119567731 119567731 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 119567731 119567731 G C SNP MAN1A1 NM_005907 human genbank 54_36p -1 reviewed missense c.1008 p.N336K 1 "HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47" "HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47" - no_errors MANEA 79694 hgsc.bcm.edu 36 6 96160717 96160717 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 96160717 96160717 G T SNP MANEA NM_024641 human genbank 54_36p 1 validated missense c.1104 p.W368C 1 NULL NULL - no_errors MAP3K4 4216 hgsc.bcm.edu 36 6 161390741 161390741 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 161390741 161390741 G T SNP MAP3K4 NM_005922 human genbank 54_36p 1 reviewed missense c.1447 p.D483Y 0 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MAP3K5 4217 hgsc.bcm.edu 36 6 136974134 136974134 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 136974134 136974134 G A SNP MAP3K5 NM_005923 human genbank 54_36p -1 reviewed missense c.2500 p.P834S 1 "HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like" "HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology" - no_errors MAP3K7 6885 hgsc.bcm.edu 36 6 91338234 91338234 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 91338234 91338234 C A SNP MAP3K7 NM_145331 human genbank 54_36p -1 reviewed missense c.134 p.G45V 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MAPK14 1432 hgsc.bcm.edu 36 6 36178396 36178396 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 36178396 36178396 A T SNP MAPK14 NM_001315 human genbank 54_36p 1 reviewed missense c.833 p.N278I 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK" - no_errors MAS1L 116511 hgsc.bcm.edu 36 6 29563331 29563331 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 29563331 29563331 C A SNP MAS1L NM_052967 human genbank 54_36p -1 provisional missense c.328 p.V110L 0.98 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MAS1L 116511 hgsc.bcm.edu 36 6 29563511 29563511 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 29563511 29563511 C T SNP MAS1L NM_052967 human genbank 54_36p -1 provisional missense c.148 p.V50I 0.33 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MCHR2 84539 hgsc.bcm.edu 36 6 100497715 100497715 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 100497715 100497715 G A SNP MCHR2 NM_001040179 human genbank 54_36p -1 validated nonsense c.418 p.R140* 0.8 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MCM3 4172 hgsc.bcm.edu 36 6 52246522 52246522 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 52246522 52246522 G A SNP MCM3 NM_002388 human genbank 54_36p -1 reviewed missense c.1526 p.A509V 0.96 "HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540" "superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,HMMSmart_AAA,PatternScan_MCM_1" - no_errors MDC1 9656 hgsc.bcm.edu 36 6 30779295 30779295 + Splice_Site SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 30779295 30779295 T C SNP MDC1 NM_014641 human genbank 54_36p -1 reviewed splice_site c.5563-2 e10-2 0.01 - - - no_errors MDN1 23195 hgsc.bcm.edu 36 6 90414761 90414761 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 90414761 90414761 A C SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.16215 p.F5405L 1 "superfamily_vWA-like,HMMSmart_SM00327" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327" - no_errors MDN1 23195 hgsc.bcm.edu 36 6 90541140 90541140 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 90541140 90541140 T C SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.1855 p.I619V 1 "HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors ME1 4199 hgsc.bcm.edu 36 6 84197329 84197329 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 84197329 84197329 G T SNP ME1 NM_002395 human genbank 54_36p -1 reviewed missense c.64 p.P22T 1 superfamily_SSF53223 "superfamily_SSF53223,HMMPfam_malic,PatternScan_MALIC_ENZYMES,HMMPfam_Malic_M,superfamily_NAD(P)-bd" - no_errors MICAL1 64780 hgsc.bcm.edu 36 6 109872832 109872832 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 109872832 109872832 T G SNP MICAL1 NM_022765 human genbank 54_36p -1 validated missense c.2941 p.K981Q 1 NULL "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors MOXD1 26002 hgsc.bcm.edu 36 6 132660118 132660118 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 132660118 132660118 A G SNP MOXD1 NM_015529 human genbank 54_36p -1 validated missense c.1709 p.I570T 0.02 NULL "HMMSmart_SM00664,HMMPfam_DOMON,superfamily_PHM/PNGase F,HMMPfam_Cu2_monooxygen,HMMPfam_Cu2_monoox_C" - no_errors NCR2 9436 hgsc.bcm.edu 36 6 41412012 41412012 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 41412012 41412012 G C SNP NCR2 NM_004828 human genbank 54_36p 1 validated missense c.262 p.D88H 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set" - no_errors NCR3 259197 hgsc.bcm.edu 36 6 31665620 31665620 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 31665620 31665620 G C SNP NCR3 NM_147130 human genbank 54_36p -1 validated missense c.306 p.D102E 0 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" - no_errors NEU1 4758 hgsc.bcm.edu 36 6 31935939 31935939 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 31935939 31935939 G A SNP NEU1 NM_000434 human genbank 54_36p -1 reviewed missense c.880 p.R294C 1 superfamily_Sialidases (neuraminidases) superfamily_Sialidases (neuraminidases) - no_errors NKAPL 222698 hgsc.bcm.edu 36 6 28336131 28336131 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 28336131 28336131 G A SNP NKAPL NM_001007531 human genbank 54_36p 1 provisional missense c.1003 p.E335K 1 HMMPfam_DUF926 HMMPfam_DUF926 - no_errors NOX3 50508 hgsc.bcm.edu 36 6 155802890 155802890 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 155802890 155802890 A T SNP NOX3 NM_015718 human genbank 54_36p -1 provisional missense c.560 p.I187N 1 HMMPfam_Ferric_reduct "HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_8,superfamily_SSF52343,HMMPfam_NAD_binding_6" - no_errors NT5E 4907 hgsc.bcm.edu 36 6 86257048 86257048 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 86257048 86257048 C T SNP NT5E NM_002526 human genbank 54_36p 1 validated silent c.1314 p.S438 0.22 "HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C" "superfamily_SSF56300,PatternScan_5_NUCLEOTIDASE_1,HMMPfam_Metallophos,PatternScan_5_NUCLEOTIDASE_2,HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C" - no_errors OFCC1 266553 hgsc.bcm.edu 36 6 10008585 10008586 + In_Frame_Ins INS - - GAG novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 10008585 10008586 - GAG INS OFCC1 NM_153003 human genbank 54_36p -1 provisional in_frame_ins c.536_535 p.179in_frame_insP 0.330:0.372 NULL NULL - no_errors OR11A1 26531 hgsc.bcm.edu 36 6 29502551 29502551 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 29502551 29502551 T A SNP OR11A1 NM_013937 human genbank 54_36p -1 provisional missense c.847 p.T283S 0.46 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2W1 26692 hgsc.bcm.edu 36 6 29120145 29120145 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 29120145 29120145 C A SNP OR2W1 NM_030903 human genbank 54_36p -1 validated missense c.787 p.G263C 0.02 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PBX2 5089 hgsc.bcm.edu 36 6 32264543 32264543 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 32264543 32264543 G A SNP PBX2 NM_002586 human genbank 54_36p -1 reviewed missense c.230 p.A77V 1 HMMPfam_PBC "HMMPfam_PBC,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PDSS2 57107 hgsc.bcm.edu 36 6 107702052 107702052 + Silent SNP T T C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 107702052 107702052 T C SNP PDSS2 NM_020381 human genbank 54_36p -1 validated silent c.504 p.L168 1 superfamily_Terpenoid synthases superfamily_Terpenoid synthases - no_errors PGBD1 84547 hgsc.bcm.edu 36 6 28377517 28377517 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 28377517 28377517 T G SNP PGBD1 NM_032507 human genbank 54_36p 1 reviewed missense c.1907 p.L636W 0.95 NULL "HMMPfam_SCAN,HMMSmart_SCAN" - no_errors PGBD1 84547 hgsc.bcm.edu 36 6 28377944 28377944 + Silent SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 28377944 28377944 C T SNP PGBD1 NM_032507 human genbank 54_36p 1 reviewed silent c.2334 p.H778 0.79 NULL "HMMPfam_SCAN,HMMSmart_SCAN" - no_errors PHACTR1 221692 hgsc.bcm.edu 36 6 12857973 12857973 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 12857973 12857973 T C SNP PHACTR1 NM_030948 human genbank 54_36p 1 validated missense c.215 p.L72P 1 NULL "HMMPfam_RPEL,HMMSmart_SM00707" - no_errors PHACTR1 221692 hgsc.bcm.edu 36 6 13336184 13336184 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 13336184 13336184 G C SNP PHACTR1 NM_030948 human genbank 54_36p 1 validated missense c.1144 p.E382Q 1 NULL "HMMPfam_RPEL,HMMSmart_SM00707" - no_errors PHIP 55023 hgsc.bcm.edu 36 6 79711818 79711818 + Silent SNP T T C novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 79711818 79711818 T C SNP PHIP NM_017934 human genbank 54_36p -1 validated silent c.4746 p.E1582 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors PKHD1 5314 hgsc.bcm.edu 36 6 51599828 51599828 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 51599828 51599828 T C SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.11711 p.N3904S 0.17 NULL "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00710,HMMPfam_G8,superfamily_Pectin lyase-like" - no_errors PKHD1 5314 hgsc.bcm.edu 36 6 51840795 51840795 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 51840795 51840795 G A SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.7558 p.H2520Y 1 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors POPDC3 64208 hgsc.bcm.edu 36 6 105716247 105716247 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 105716247 105716247 T C SNP POPDC3 NM_022361 human genbank 54_36p -1 reviewed missense c.231 p.I77M 0.68 NULL "HMMPfam_Popeye,superfamily_cAMP-binding domain-like" - no_errors POU5F1 5460 hgsc.bcm.edu 36 6 31240988 31240988 + Missense_Mutation SNP C C G rs60346131 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 31240988 31240988 C G SNP POU5F1 NM_002701 human genbank 54_36p -1 validated missense c.712 p.E238Q 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PPARD 5467 hgsc.bcm.edu 36 6 35500144 35500144 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 35500144 35500144 C T SNP PPARD NM_006238 human genbank 54_36p 1 reviewed nonsense c.688 p.Q230* 1 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors PREP 5550 hgsc.bcm.edu 36 6 105928083 105928083 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 105928083 105928083 C T SNP PREP NM_002726 human genbank 54_36p -1 reviewed nonsense c.449 p.W150* 1 "superfamily_Peptidase_S9A_N,HMMPfam_Peptidase_S9_N" "superfamily_Peptidase_S9A_N,HMMPfam_Peptidase_S9_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors PRICKLE4 29964 hgsc.bcm.edu 36 6 41862551 41862552 + In_Frame_Ins INS - - CTT novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 41862551 41862552 - CTT INS PRICKLE4 NM_013397 human genbank 54_36p 1 validated in_frame_ins c.861_862 p.288in_frame_insL 0.001:0.002 NULL "HMMPfam_PET,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors PRSS16 10279 hgsc.bcm.edu 36 6 27331044 27331058 + In_Frame_Del DEL AAGGAGAGCCAGATT AAGGAGAGCCAGATT - rs5030663 Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 AAGGAGAGCCAGATT AAGGAGAGCCAGATT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 27331044 27331058 AAGGAGAGCCAGATT - DEL PRSS16 NM_005865 human genbank 54_36p 1 reviewed in_frame_del c.1516_1530 p.ESQIK507in_frame_del 0.008:0.021:0.022:0.020:0.048:0.068:0.213:0.244:0.303:0.312:0.297:0.218:0.073:0.000:0.000 NULL "HMMPfam_Peptidase_S28,superfamily_SSF53474" "(deletion:cds_exon[27331005,27331073])" no_errors PRSS35 167681 hgsc.bcm.edu 36 6 84291068 84291068 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 84291068 84291068 G A SNP PRSS35 NM_153362 human genbank 54_36p 1 provisional missense c.1189 p.A397T 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc" "PatternScan_TRYPSIN_SER,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" - no_errors PSORS1C1 170679 hgsc.bcm.edu 36 6 31214212 31214212 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 31214212 31214212 C G SNP PSORS1C1 NM_014068 human genbank 54_36p 1 provisional missense c.40 p.L14V 0.2 NULL NULL - no_errors PSORS1C1 170679 hgsc.bcm.edu 36 6 31214479 31214480 + Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 31214479 31214480 - C INS PSORS1C1 NM_014068 human genbank 54_36p 1 provisional frame_shift_ins c.111_112 p.H39fs 0.000:0.001 NULL NULL - no_errors RARS2 57038 hgsc.bcm.edu 36 6 88291076 88291076 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 6 88291076 88291076 C T SNP RARS2 NM_020320 human genbank 54_36p -1 reviewed missense c.892 p.V298I 1 "HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase" ############################################################################################################################################################################################################################################################### - no_errors RBM16 22828 hgsc.bcm.edu 36 6 155195708 155195708 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 155195708 155195708 G T SNP RBM16 NM_014892 human genbank 54_36p 1 validated missense c.3303 p.E1101D 1 NULL "superfamily_ENTH_VHS,HMMSmart_RPR,HMMPfam_DUF618,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors CLVS2 134829 hgsc.bcm.edu 36 6 123426558 123426558 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 123426558 123426558 G C SNP RLBP1L2 NM_001010852 human genbank 54_36p 1 provisional missense c.937 p.D313H 1 NULL "superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL/TRIO domain,HMMSmart_SM00516,PatternScan_SUGAR_TRANSPORT_1" - no_errors RNF146 81847 hgsc.bcm.edu 36 6 127650166 127650166 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 127650166 127650166 G A SNP RNF146 NM_030963 human genbank 54_36p 1 provisional missense c.712 p.A238T 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_WWE,HMMSmart_WWE" - no_errors ROS1 6098 hgsc.bcm.edu 36 6 117831043 117831043 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 117831043 117831043 G A SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed nonsense c.529 p.Q177* 0.99 "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like" "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF63825,HMMSmart_LY,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors RPS6KA2 6196 hgsc.bcm.edu 36 6 166747294 166747294 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture SOLID SOLID 6 166747294 166747294 C A SNP RPS6KA2 NM_001006932 human genbank 54_36p -1 reviewed missense c.2078 p.R693L 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors RREB1 6239 hgsc.bcm.edu 36 6 7171815 7171815 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 7171815 7171815 C A SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.824 p.P275H 1 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors RUNX2 860 hgsc.bcm.edu 36 6 45622685 45622685 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 45622685 45622685 G A SNP RUNX2 NM_001024630 human genbank 54_36p 1 reviewed missense c.1435 p.G479S 1 NULL "HMMPfam_Runt,superfamily_P53_like_DNA_bnd,HMMPfam_RunxI" - no_errors SCGN 10590 hgsc.bcm.edu 36 6 25773225 25773225 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 25773225 25773225 G A SNP SCGN NM_006998 human genbank 54_36p 1 reviewed missense c.322 p.V108M 1 superfamily_EF-hand "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors SCUBE3 222663 hgsc.bcm.edu 36 6 35315512 35315512 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 35315512 35315512 G C SNP SCUBE3 NM_152753 human genbank 54_36p 1 provisional missense c.835 p.D279H 1 "PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors SEC63 11231 hgsc.bcm.edu 36 6 108321448 108321448 + Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 108321448 108321448 T - DEL SEC63 NM_007214 human genbank 54_36p -1 reviewed frame_shift_del c.1605 p.K535fs 1 "HMMPfam_Sec63,HMMSmart_SEC63" "PatternScan_DNAJ_1,superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,HMMPfam_Sec63,HMMSmart_SEC63" "(deletion:cds_exon[108321379,108321552])" no_errors SEC63 11231 hgsc.bcm.edu 36 6 108321467 108321467 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 108321467 108321467 T - DEL SEC63 NM_007214 human genbank 54_36p -1 reviewed frame_shift_del c.1586 p.K529fs 1 "HMMPfam_Sec63,HMMSmart_SEC63" "HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N,HMMPfam_Sec63,HMMSmart_SEC63,PatternScan_DNAJ_1" "(deletion:cds_exon[108321379,108321552])" no_errors SEC63 11231 hgsc.bcm.edu 36 6 108352750 108352750 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 108352750 108352750 C A SNP SEC63 NM_007214 human genbank 54_36p -1 reviewed nonsense c.304 p.E102* 1 superfamily_DnaJ_N "HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N,HMMPfam_Sec63,HMMSmart_SEC63,PatternScan_DNAJ_1" - no_errors SERPINB1 1992 hgsc.bcm.edu 36 6 2781139 2781139 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 2781139 2781139 C T SNP SERPINB1 NM_030666 human genbank 54_36p -1 provisional missense c.685 p.V229I 0.92 "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN" "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors SESN1 27244 hgsc.bcm.edu 36 6 109430209 109430209 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 109430209 109430209 C G SNP SESN1 NM_014454 human genbank 54_36p -1 provisional missense c.310 p.G104R 1 HMMPfam_PA26 "HMMPfam_PA26,superfamily_SSF69118" - no_errors SIM1 6492 hgsc.bcm.edu 36 6 100945446 100945446 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 100945446 100945446 A T SNP SIM1 NM_005068 human genbank 54_36p -1 reviewed missense c.1813 p.C605S 1 HMMPfam_SIM_C "HMMPfam_HLH,HMMSmart_HLH,HMMPfam_PAS,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC,HMMPfam_SIM_C" - no_errors SIM1 6492 hgsc.bcm.edu 36 6 100948242 100948242 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 100948242 100948242 C T SNP SIM1 NM_005068 human genbank 54_36p -1 reviewed missense c.1412 p.R471Q 0.97 HMMPfam_SIM_C "HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,HMMPfam_SIM_C,HMMPfam_PAS_3,HMMPfam_PAS,superfamily_SSF55785" - no_errors SKIV2L 6499 hgsc.bcm.edu 36 6 32038740 32038740 + Splice_Site SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 32038740 32038740 G A SNP SKIV2L NM_006929 human genbank 54_36p 1 reviewed splice_site c.1297-1 e13-1 1 - - - no_errors SLC17A1 6568 hgsc.bcm.edu 36 6 25927345 25927345 + Silent SNP G G C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 25927345 25927345 G C SNP SLC17A1 NM_005074 human genbank 54_36p -1 validated silent c.546 p.P182 0 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC29A1 2030 hgsc.bcm.edu 36 6 44305329 44305329 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 44305329 44305329 C T SNP SLC29A1 NM_001078174 human genbank 54_36p 1 reviewed missense c.137 p.S46F 0.03 NULL HMMPfam_Nucleoside_tran - no_errors SMOC2 64094 hgsc.bcm.edu 36 6 168669894 168669894 + Silent SNP C C G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 168669894 168669894 C G SNP SMOC2 NM_022138 human genbank 54_36p 1 provisional silent c.276 p.A92 1 "superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1" "superfamily_Thyroglobulin_1,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg" - no_errors SMOC2 64094 hgsc.bcm.edu 36 6 168793369 168793369 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 168793369 168793369 C A SNP SMOC2 NM_022138 human genbank 54_36p 1 provisional missense c.1024 p.P342T 0.99 superfamily_SSF47473 "HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1,HMMSmart_EFh,HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473" - no_errors SYNE1 23345 hgsc.bcm.edu 36 6 152511016 152511017 + Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 152511016 152511017 - T INS SYNE1 NM_182961 human genbank 54_36p -1 reviewed frame_shift_ins c.24833_24832 p.V8278fs 1.000:1.000 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH" - no_errors SYNE1 23345 hgsc.bcm.edu 36 6 152681008 152681008 + Silent SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 152681008 152681008 G T SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed silent c.16473 p.G5491 0.01 "HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 hgsc.bcm.edu 36 6 152686485 152686485 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 152686485 152686485 C A SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.15738 p.E5246D 0.78 "HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 hgsc.bcm.edu 36 6 152739225 152739225 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 152739225 152739225 C A SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.9308 p.S3103I 0.92 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors TAGAP 117289 hgsc.bcm.edu 36 6 159380310 159380310 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 159380310 159380310 G C SNP TAGAP NM_054114 human genbank 54_36p -1 reviewed missense c.607 p.R203G 0.02 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors TBC1D7 51256 hgsc.bcm.edu 36 6 13429172 13429172 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 13429172 13429172 G A SNP TBC1D7 NM_016495 human genbank 54_36p -1 validated missense c.328 p.R110C 1 NULL superfamily_Ypt/Rab-GAP domain of gyp1p - no_errors TCP11 6954 hgsc.bcm.edu 36 6 35195076 35195076 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 35195076 35195076 C A SNP TCP11 NM_001093728 human genbank 54_36p -1 validated missense c.1225 p.G409C 0.98 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors TINAG 27283 hgsc.bcm.edu 36 6 54299591 54299591 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 6 54299591 54299591 G A SNP TINAG NM_014464 human genbank 54_36p 1 validated missense c.542 p.G181E 1 superfamily_Cysteine proteinases "HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Cysteine proteinases,HMMSmart_SM00645,HMMPfam_Peptidase_C1,PatternScan_THIOL_PROTEASE_ASN" - no_errors TNFAIP3 7128 hgsc.bcm.edu 36 6 138234115 138234115 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 138234115 138234115 A C SNP TNFAIP3 NM_006290 human genbank 54_36p 1 reviewed missense c.58 p.K20Q 1 NULL "HMMPfam_OTU,HMMPfam_zf-A20,HMMSmart_ZnF_A20" - no_errors TNFAIP3 7128 hgsc.bcm.edu 36 6 138237686 138237686 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 138237686 138237686 T G SNP TNFAIP3 NM_006290 human genbank 54_36p 1 reviewed missense c.307 p.C103G 1 HMMPfam_OTU "HMMPfam_zf-A20,HMMSmart_ZnF_A20,HMMPfam_OTU" - no_errors TRIM31 11074 hgsc.bcm.edu 36 6 30188549 30188549 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 30188549 30188549 G T SNP TRIM31 NM_007028 human genbank 54_36p -1 reviewed missense c.13 p.Q5K 0 superfamily_RING/U-box "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336" - no_errors TRIM40 135644 hgsc.bcm.edu 36 6 30223553 30223553 + Silent SNP C C G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 30223553 30223553 C G SNP TRIM40 NM_138700 human genbank 54_36p 1 validated silent c.675 p.P225 0.46 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_B-box zinc-binding domain" - no_errors TSPYL1 7259 hgsc.bcm.edu 36 6 116706778 116706778 + Nonsense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 116706778 116706778 G C SNP TSPYL1 NM_003309 human genbank 54_36p -1 validated nonsense c.909 p.Y303* 1 HMMPfam_NAP HMMPfam_NAP - no_errors TSPYL1 7259 hgsc.bcm.edu 36 6 116707014 116707014 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 116707014 116707014 C A SNP TSPYL1 NM_003309 human genbank 54_36p -1 validated nonsense c.673 p.E225* 0 NULL HMMPfam_NAP - no_errors TSPYL1 7259 hgsc.bcm.edu 36 6 116707158 116707159 + In_Frame_Ins INS - - CAC novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 116707158 116707159 - CAC INS TSPYL1 NM_003309 human genbank 54_36p -1 validated in_frame_ins c.529_528 p.176in_frame_insV 0.000:0.000 NULL HMMPfam_NAP - no_errors TTK 7272 hgsc.bcm.edu 36 6 80804426 80804426 + Silent SNP A A C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 80804426 80804426 A C SNP TTK NM_003318 human genbank 54_36p 1 provisional silent c.2073 p.P691 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TTK 7272 hgsc.bcm.edu 36 6 80808616 80808616 + Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 80808616 80808616 A - DEL TTK NM_003318 human genbank 54_36p 1 provisional frame_shift_del c.2552 p.R854fs 0.08 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "(deletion:cds_exon[80808555,80808638])" no_errors USP49 25862 hgsc.bcm.edu 36 6 41881358 41881358 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 41881358 41881358 G T SNP USP49 NM_018561 human genbank 54_36p -1 provisional missense c.1342 p.Q448K 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors VPS52 6293 hgsc.bcm.edu 36 6 33327328 33327328 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 33327328 33327328 C T SNP VPS52 NM_022553 human genbank 54_36p -1 reviewed missense c.1970 p.S657N 1 NULL HMMPfam_Vps52 - no_errors WRNIP1 56897 hgsc.bcm.edu 36 6 2729565 2729565 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 6 2729565 2729565 G A SNP WRNIP1 NM_020135 human genbank 54_36p 1 reviewed missense c.1651 p.D551N 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00734,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" - no_errors ZFP57 346171 hgsc.bcm.edu 36 6 29748688 29748688 + Silent SNP A A G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 29748688 29748688 A G SNP ZFP57 NM_001109809 human genbank 54_36p -1 inferred silent c.1119 p.F373 0.88 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF292 23036 hgsc.bcm.edu 36 6 88024767 88024767 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 88024767 88024767 G T SNP ZNF292 NM_015021 human genbank 54_36p 1 validated missense c.4701 p.L1567F 1 NULL "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF323 64288 hgsc.bcm.edu 36 6 28402611 28402611 + Splice_Site SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 28402611 28402611 C T SNP ZNF323 NM_145909 human genbank 54_36p -1 validated splice_site c.533-1 e3-1 0.02 - - - no_errors ZNF451 26036 hgsc.bcm.edu 36 6 57120398 57120398 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 6 57120398 57120398 G T SNP ZNF451 NM_001031623 human genbank 54_36p 1 validated missense c.1556 p.R519L 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ABCB1 5243 hgsc.bcm.edu 36 7 86982618 86982618 + Silent SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 86982618 86982618 G A SNP ABCB1 NM_000927 human genbank 54_36p -1 reviewed silent c.3147 p.D1049 0.92 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB4 5244 hgsc.bcm.edu 36 7 86894012 86894012 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 86894012 86894012 G C SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed missense c.2054 p.T685S 0 NULL "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ADAM22 53616 hgsc.bcm.edu 36 7 87401725 87401725 + Silent SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 87401725 87401725 G A SNP ADAM22 NM_021723 human genbank 54_36p 1 reviewed silent c.9 p.A3 0.37 NULL ############################################################################################################################################################################################################################################################### - no_errors ADAM22 53616 hgsc.bcm.edu 36 7 87620519 87620519 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 87620519 87620519 G C SNP ADAM22 NM_021723 human genbank 54_36p 1 reviewed missense c.1729 p.G577R 1 "HMMPfam_ADAM_CR,HMMSmart_SM00608" ############################################################################################################################################################################################################################################################### - no_errors AGAP3 116988 hgsc.bcm.edu 36 7 150446246 150446246 + Silent SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 150446246 150446246 G A SNP AGAP3 NM_031946 human genbank 54_36p 1 validated silent c.723 p.A241 0.98 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" ############################################################################################################################################################################################################################################################### - no_errors AGAP3 116988 hgsc.bcm.edu 36 7 150468093 150468093 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 150468093 150468093 C - DEL AGAP3 NM_031946 human genbank 54_36p 1 validated frame_shift_del c.1761 p.S587fs 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[150467999,150468136])" no_errors AKAP9 10142 hgsc.bcm.edu 36 7 91490114 91490115 + In_Frame_Ins INS - - AAC rs10644111 Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 91490114 91490115 - AAC INS AKAP9 NM_005751 human genbank 54_36p 1 reviewed in_frame_ins c.4003_4004 p.1336in_frame_insQ 0.334:0.401 NULL "PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil" - no_errors AKR1B1 231 hgsc.bcm.edu 36 7 133786171 133786171 + Silent SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 133786171 133786171 C T SNP AKR1B1 NM_001628 human genbank 54_36p -1 reviewed silent c.258 p.K86 0 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors AMPH 273 hgsc.bcm.edu 36 7 38471596 38471596 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 38471596 38471596 G A SNP AMPH NM_001635 human genbank 54_36p -1 reviewed missense c.745 p.P249S 1 NULL "HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors ATG9B 285973 hgsc.bcm.edu 36 7 150351124 150351124 + Silent SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 150351124 150351124 C A SNP ATG9B NM_173681 human genbank 54_36p -1 validated silent c.762 p.P254 0 NULL HMMPfam_APG9 - no_errors ATG9B 285973 hgsc.bcm.edu 36 7 150352150 150352151 + Frame_Shift_Ins INS - - G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 150352150 150352151 - G INS ATG9B NM_173681 human genbank 54_36p -1 validated frame_shift_ins c.294_293 p.T99fs 0.068:0.112 NULL HMMPfam_APG9 - no_errors BMPER 168667 hgsc.bcm.edu 36 7 33911791 33911791 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 33911791 33911791 A C SNP BMPER NM_133468 human genbank 54_36p 1 validated missense c.41 p.Y14S 0.77 NULL "HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL" - no_errors C7orf10 79783 hgsc.bcm.edu 36 7 40455461 40455461 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 40455461 40455461 G T SNP C7orf10 NM_024728 human genbank 54_36p 1 predicted missense c.777 p.Q259H 0.99 "superfamily_CoA-Trfase_fam_III,HMMPfam_CoA_transf_3" "superfamily_CoA-Trfase_fam_III,HMMPfam_CoA_transf_3" - no_errors FAM200A 221786 hgsc.bcm.edu 36 7 98983560 98983560 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 98983560 98983560 G C SNP C7orf38 NM_145111 human genbank 54_36p -1 validated missense c.407 p.S136C 0.93 NULL NULL - no_errors C7orf53 286006 hgsc.bcm.edu 36 7 111914312 111914312 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 111914312 111914312 G A SNP C7orf53 NM_182597 human genbank 54_36p 1 validated missense c.226 p.A76T 0.7 NULL NULL - no_errors C7orf70 84792 hgsc.bcm.edu 36 7 6337095 6337095 + Silent SNP A A G rs61996356 Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 6337095 6337095 A G SNP MGC12966 NM_001037163 human genbank 54_36p -1 validated silent c.216 p.A72 0 NULL NULL - no_errors CADPS2 93664 hgsc.bcm.edu 36 7 122056610 122056610 + Silent SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 122056610 122056610 G A SNP CADPS2 NM_017954 human genbank 54_36p -1 validated silent c.795 p.N265 0.94 NULL "HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041" - no_errors CNTNAP2 26047 hgsc.bcm.edu 36 7 147743507 147743507 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 147743507 147743507 C T SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.3862 p.R1288C 1 HMMSmart_SM00294 ############################################################################################################################################################################################################################################################### - no_errors COBL 23242 hgsc.bcm.edu 36 7 51063355 51063355 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 51063355 51063355 G T SNP COBL NM_015198 human genbank 54_36p -1 validated missense c.2932 p.L978M 0 NULL "HMMPfam_Cobl,HMMPfam_WH2,HMMSmart_SM00246" - no_errors CPA5 93979 hgsc.bcm.edu 36 7 129777070 129777070 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 129777070 129777070 C T SNP CPA5 NM_080385 human genbank 54_36p 1 validated missense c.217 p.P73S 1 "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14" "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2" - no_errors CPA5 93979 hgsc.bcm.edu 36 7 129789577 129789577 + Silent SNP G A A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G A A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 129789577 129789577 G A SNP CPA5 NM_080385 human genbank 54_36p 1 validated silent c.597 p.E199 1 "HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases" "HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2,HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors,superfamily_Zn-dependent exopeptidases" - no_errors CROT 54677 hgsc.bcm.edu 36 7 86849386 86849386 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 86849386 86849386 A G SNP CROT NM_021151 human genbank 54_36p 1 reviewed missense c.1123 p.K375E 1 "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf" "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2" - no_errors CUX1 1523 hgsc.bcm.edu 36 7 101630092 101630092 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 101630092 101630092 G T SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed missense c.1982 p.R661L 1 NULL "superfamily_lambda repressor-like DNA-binding domains,HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors DGKB 1607 hgsc.bcm.edu 36 7 14580406 14580406 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 14580406 14580406 G A SNP DGKB NM_004080 human genbank 54_36p -1 reviewed missense c.1729 p.P577S 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors DMTF1 9988 hgsc.bcm.edu 36 7 86638306 86638306 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 86638306 86638306 G A SNP DMTF1 NM_021145 human genbank 54_36p 1 reviewed missense c.292 p.D98N 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors DNAH11 8701 hgsc.bcm.edu 36 7 21576352 21576352 + Silent SNP T T C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 21576352 21576352 T C SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known silent c.1335 p.F445 0.1 HMMPfam_DHC_N1 "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy" - no_errors EGFR 1956 hgsc.bcm.edu 36 7 55191950 55191950 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55191950 55191950 T - DEL EGFR NM_005228 human genbank 54_36p 1 reviewed frame_shift_del c.1138 p.S380fs 0.25 "superfamily_L domain-like,HMMPfam_Recep_L_domain" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[55191946,55192019])" no_errors EGFR 1956 hgsc.bcm.edu 36 7 55209171 55209171 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55209171 55209171 G C SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2125 p.E709Q 1 superfamily_Protein kinase-like (PK-like) ############################################################################################################################################################################################################################################################### - no_errors EGFR 1956 hgsc.bcm.edu 36 7 55216511 55216511 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55216511 55216511 C G SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2315 p.P772R 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EGFR 1956 hgsc.bcm.edu 36 7 55226952 55226952 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55226952 55226952 C T SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2516 p.A839V 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EGFR 1956 hgsc.bcm.edu 36 7 55240774 55240774 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 55240774 55240774 G A SNP EGFR NM_005228 human genbank 54_36p 1 reviewed silent c.3603 p.A1201 0.54 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHB4 2050 hgsc.bcm.edu 36 7 100248358 100248358 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 100248358 100248358 C T SNP EPHB4 NM_004444 human genbank 54_36p -1 reviewed missense c.2065 p.V689I 0.98 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors EXOC4 60412 hgsc.bcm.edu 36 7 132965359 132965359 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 132965359 132965359 T C SNP EXOC4 NM_021807 human genbank 54_36p 1 reviewed missense c.1439 p.I480T 1 NULL "HMMPfam_Sec8_exocyst,PatternScan_DEAH_ATP_HELICASE" - no_errors FBXO24 26261 hgsc.bcm.edu 36 7 100028389 100028389 + Silent SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 100028389 100028389 C T SNP FBXO24 NM_033506 human genbank 54_36p 1 reviewed silent c.606 p.Y202 0.99 NULL "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RCC1/BLIP-II" - no_errors FBXO24 26261 hgsc.bcm.edu 36 7 100030098 100030098 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 100030098 100030098 C G SNP FBXO24 NM_033506 human genbank 54_36p 1 reviewed missense c.950 p.T317R 1 superfamily_RCC1/BLIP-II "HMMPfam_F-box,HMMSmart_SM00256,superfamily_RCC1/BLIP-II,superfamily_F-box domain" - no_errors FERD3L 222894 hgsc.bcm.edu 36 7 19151271 19151272 + In_Frame_Ins INS - - TCT rs34966908 Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 19151271 19151272 - TCT INS FERD3L NM_152898 human genbank 54_36p -1 validated in_frame_ins c.240_239 p.82in_frame_insE 0.827:0.841 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors FKBP9 11328 hgsc.bcm.edu 36 7 32982589 32982589 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 32982589 32982589 G A SNP FKBP9 NM_007270 human genbank 54_36p 1 validated missense c.656 p.R219H 1 "superfamily_SSF54534,HMMPfam_FKBP_C" "superfamily_SSF54534,HMMPfam_FKBP_C,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,PatternScan_ER_TARGET" - no_errors FOXP2 93986 hgsc.bcm.edu 36 7 114091628 114091628 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 114091628 114091628 G A SNP FOXP2 NM_148898 human genbank 54_36p 1 reviewed missense c.1979 p.S660N 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors FSCN3 29999 hgsc.bcm.edu 36 7 127022763 127022763 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 127022763 127022763 A T SNP FSCN3 NM_020369 human genbank 54_36p 1 provisional missense c.311 p.K104M 1 "superfamily_Actin_crosslink,HMMPfam_Fascin" "superfamily_Actin_crosslink,HMMPfam_Fascin" - no_errors FTSJ2 29960 hgsc.bcm.edu 36 7 2245719 2245719 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 2245719 2245719 C T SNP FTSJ2 NM_013393 human genbank 54_36p -1 reviewed missense c.158 p.R53Q 1 "superfamily_SSF53335,HMMPfam_FtsJ" "superfamily_SSF53335,HMMPfam_FtsJ" - no_errors GJC3 349149 hgsc.bcm.edu 36 7 99364444 99364444 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 99364444 99364444 C T SNP GJC3 NM_181538 human genbank 54_36p -1 provisional missense c.736 p.D246N 0 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors GLI3 2737 hgsc.bcm.edu 36 7 42031491 42031491 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 42031491 42031491 G A SNP GLI3 NM_000168 human genbank 54_36p -1 reviewed missense c.1253 p.T418M 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GPNMB 10457 hgsc.bcm.edu 36 7 23263171 23263171 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 23263171 23263171 G C SNP GPNMB NM_001005340 human genbank 54_36p 1 reviewed missense c.503 p.W168S 1 NULL "superfamily_PKD domain,HMMSmart_SM00089,HMMPfam_PKD" - no_errors GRM8 2918 hgsc.bcm.edu 36 7 125960644 125960644 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 125960644 125960644 T C SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.2028 p.I676M 1 HMMPfam_7tm_3 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GTF2IRD1 9569 hgsc.bcm.edu 36 7 73582041 73582041 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 73582041 73582041 C T SNP GTF2IRD1 NM_016328 human genbank 54_36p 1 reviewed missense c.1132 p.R378W 1 HMMPfam_GTF2I HMMPfam_GTF2I - no_errors GTF2IRD1 9569 hgsc.bcm.edu 36 7 73643154 73643154 + Silent SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 73643154 73643154 C T SNP GTF2IRD1 NM_016328 human genbank 54_36p 1 reviewed silent c.2508 p.D836 0.97 HMMPfam_GTF2I HMMPfam_GTF2I - no_errors GTF2IRD1 9569 hgsc.bcm.edu 36 7 73643154 73643154 + Silent SNP C C T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 73643154 73643154 C T SNP GTF2IRD1 NM_016328 human genbank 54_36p 1 reviewed silent c.2508 p.D836 0.97 HMMPfam_GTF2I HMMPfam_GTF2I - no_errors HECW1 23072 hgsc.bcm.edu 36 7 43450726 43450726 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 43450726 43450726 A G SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.1430 p.E477G 0 NULL "HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors HECW1 23072 hgsc.bcm.edu 36 7 43556567 43556567 + Splice_Site SNP A A T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 43556567 43556567 A T SNP HECW1 NM_015052 human genbank 54_36p 1 validated splice_site c.4249-2 e25-2 1 - - - no_errors HIBADH 11112 hgsc.bcm.edu 36 7 27655740 27655740 + Silent SNP T T C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 27655740 27655740 T C SNP HIBADH NM_152740 human genbank 54_36p -1 validated silent c.129 p.G43 1 "HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains" "HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_3_HYDROXYISOBUT_DH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like" - no_errors HTR5A 3361 hgsc.bcm.edu 36 7 154494257 154494257 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 154494257 154494257 G A SNP HTR5A NM_024012 human genbank 54_36p 1 reviewed missense c.715 p.V239I 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HUS1 3364 hgsc.bcm.edu 36 7 47984571 47984571 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 47984571 47984571 G T SNP HUS1 NM_004507 human genbank 54_36p -1 reviewed missense c.325 p.H109N 1 HMMPfam_Hus1 HMMPfam_Hus1 - no_errors INHBA 3624 hgsc.bcm.edu 36 7 41696287 41696288 + In_Frame_Ins INS - - GTC novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 41696287 41696288 - GTC INS INHBA NM_002192 human genbank 54_36p -1 reviewed in_frame_ins c.767_766 p.256in_frame_insR 1.000:1.000 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1" - no_errors KEL 3792 hgsc.bcm.edu 36 7 142361733 142361733 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 142361733 142361733 C T SNP KEL NM_000420 human genbank 54_36p -1 reviewed missense c.676 p.D226N 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors KIAA1324L 222223 hgsc.bcm.edu 36 7 86380315 86380315 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 86380315 86380315 G A SNP KIAA1324L NM_152748 human genbank 54_36p -1 validated missense c.1153 p.H385Y 1 superfamily_Grow_fac_recept "HMMPfam_NCD3G,superfamily_Grow_fac_recept,superfamily_Man6php_recept" - no_errors KIAA1324L 222223 hgsc.bcm.edu 36 7 86394128 86394128 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 86394128 86394128 C T SNP KIAA1324L NM_152748 human genbank 54_36p -1 validated missense c.410 p.R137Q 1 superfamily_Grow_fac_recept "superfamily_Man6php_recept,superfamily_Grow_fac_recept,HMMPfam_NCD3G" - no_errors KRIT1 889 hgsc.bcm.edu 36 7 91703779 91703779 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 91703779 91703779 G T SNP KRIT1 NM_004912 human genbank 54_36p -1 validated nonsense c.369 p.Y123* 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" - no_errors LAMB1 3912 hgsc.bcm.edu 36 7 107386991 107386991 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 107386991 107386991 C T SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.2629 p.D877N 0.91 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00181" "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin" - no_errors LAMB4 22798 hgsc.bcm.edu 36 7 107483411 107483411 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 107483411 107483411 G T SNP LAMB4 NM_007356 human genbank 54_36p -1 validated missense c.3657 p.D1219E 0.03 NULL "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors LAMB4 22798 hgsc.bcm.edu 36 7 107535349 107535349 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 107535349 107535349 G T SNP LAMB4 NM_007356 human genbank 54_36p -1 validated missense c.554 p.S185Y 0.24 "HMMPfam_Laminin_N,HMMSmart_SM00136" "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_SM00136,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors LRRN3 54674 hgsc.bcm.edu 36 7 110550512 110550512 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 110550512 110550512 A C SNP LRRN3 NM_001099658 human genbank 54_36p 1 validated missense c.448 p.N150H 1 "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1" "superfamily_L domain-like,HMMSmart_SM00013,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors MDFIC 29969 hgsc.bcm.edu 36 7 114406913 114406913 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 114406913 114406913 G C SNP MDFIC ENST00000393486 human ensembl 54_36p 1 known missense c.334 p.G112R 1 NULL PatternScan_EGF_1 - no_errors MEOX2 4223 hgsc.bcm.edu 36 7 15618640 15618640 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 15618640 15618640 T G SNP MEOX2 NM_005924 human genbank 54_36p -1 reviewed missense c.812 p.E271A 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors MEST 4232 hgsc.bcm.edu 36 7 129925345 129925345 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 129925345 129925345 C T SNP MEST NM_002402 human genbank 54_36p 1 reviewed missense c.469 p.L157F 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors MET 4233 hgsc.bcm.edu 36 7 116223379 116223379 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 116223379 116223379 G A SNP MET NM_000245 human genbank 54_36p 1 reviewed missense c.4138 p.D1380N 0.92 NULL ############################################################################################################################################################################################################################################################### - no_errors MGAM 8972 hgsc.bcm.edu 36 7 141368613 141368613 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 141368613 141368613 G A SNP MGAM NM_004668 human genbank 54_36p 1 reviewed missense c.787 p.V263M 0.98 NULL "HMMPfam_Trefoil,HMMPfam_Glyco_hydro_31" - no_errors MLL3 58508 hgsc.bcm.edu 36 7 151504560 151504560 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 151504560 151504560 A C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.8911 p.S2971A 0.74 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL5 55904 hgsc.bcm.edu 36 7 104539850 104539850 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 104539850 104539850 T A SNP MLL5 NM_018682 human genbank 54_36p 1 reviewed missense c.4411 p.S1471T 0.94 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors MOSPD3 64598 hgsc.bcm.edu 36 7 100049137 100049137 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 100049137 100049137 G A SNP MOSPD3 NM_001040097 human genbank 54_36p 1 reviewed missense c.383 p.R128H 0.99 HMMPfam_Motile_Sperm "HMMPfam_Motile_Sperm,superfamily_PapD-like" - no_errors MUC17 140453 hgsc.bcm.edu 36 7 100465763 100465763 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 100465763 100465763 C G SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.4346 p.T1449S 0.01 NULL "superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_errors MUC17 140453 hgsc.bcm.edu 36 7 100483021 100483021 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 100483021 100483021 G T SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional nonsense c.13138 p.E4380* 0.02 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC3A 4584 hgsc.bcm.edu 36 7 100395604 100395604 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 100395604 100395604 G A SNP MUC3A XM_001725354 human genbank 54_36p 1 model missense c.772 p.A258T 0.05 "HMMSmart_SM00181,superfamily_EGF/Laminin" "superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_errors NCRNA00174 285908 hgsc.bcm.edu 36 7 65479980 65479981 + Frame_Shift_Ins INS - - GC novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 65479980 65479981 - GC INS NCRNA00174 ENST00000324866 human ensembl 54_36p -1 known frame_shift_ins c.52_51 p.T17fs 0.000:0.000 NULL NULL - no_errors NOBOX 135935 hgsc.bcm.edu 36 7 143729244 143729244 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 143729244 143729244 G C SNP NOBOX NM_001080413 human genbank 54_36p -1 provisional missense c.672 p.N224K 0.01 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors NOD1 10392 hgsc.bcm.edu 36 7 30454487 30454487 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 30454487 30454487 T G SNP NOD1 NM_006092 human genbank 54_36p -1 validated missense c.2237 p.K746T 1 superfamily_SSF52047 "superfamily_DEATH_like,HMMPfam_CARD,HMMPfam_NACHT,superfamily_SSF52047" - no_errors NOM1 64434 hgsc.bcm.edu 36 7 156451859 156451859 + Splice_Site SNP T T A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 156451859 156451859 T A SNP NOM1 NM_138400 human genbank 54_36p 1 provisional splice_site c.2166+2 e8+2 1 - - - no_errors NOS3 4846 hgsc.bcm.edu 36 7 150330273 150330273 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 150330273 150330273 T C SNP NOS3 NM_000603 human genbank 54_36p 1 validated missense c.1700 p.V567A 1 "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1" ############################################################################################################################################################################################################################################################### - no_errors NPC1L1 29881 hgsc.bcm.edu 36 7 44526890 44526890 + Silent SNP T T C novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 44526890 44526890 T C SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated silent c.3135 p.L1045 0.98 HMMPfam_Patched "HMMPfam_Patched,superfamily_SSF82866" - no_errors NRCAM 4897 hgsc.bcm.edu 36 7 107612115 107612115 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 107612115 107612115 A G SNP NRCAM NM_001037132 human genbank 54_36p -1 reviewed missense c.2215 p.Y739H 1 superfamily_Fibronectin type III "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors NRF1 4899 hgsc.bcm.edu 36 7 129137499 129137499 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 129137499 129137499 A T SNP NRF1 NM_001040110 human genbank 54_36p 1 reviewed missense c.815 p.Q272L 1 HMMPfam_Nrf1_DNA-bind "HMMPfam_Nrf1_DNA-bind,HMMPfam_Nrf1_activ_bdg" - no_errors NSUN5P2 260294 hgsc.bcm.edu 36 7 72058325 72058329 + Frame_Shift_Del DEL GGTTC GGTTC - novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 GGTTC GGTTC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 72058325 72058329 GGTTC - DEL NSUN5C NM_001039487 human genbank 54_36p -1 validated frame_shift_del c.199_195 p.N66fs 1.000:1.000:1.000:1.000:1.000 "HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "(deletion:cds_exon[72058321,72058436])" no_errors NSUN5P2 260294 hgsc.bcm.edu 36 7 72058357 72058357 + Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 72058357 72058357 T - DEL NSUN5C NM_001039487 human genbank 54_36p -1 validated frame_shift_del c.167 p.K56fs 1 "HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "(deletion:cds_exon[72058321,72058436])" no_errors NUP205 23165 hgsc.bcm.edu 36 7 134909107 134909107 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 134909107 134909107 C A SNP NUP205 NM_015135 human genbank 54_36p 1 validated missense c.337 p.L113I 0.34 NULL NULL - no_errors NUPL2 11097 hgsc.bcm.edu 36 7 23206757 23206758 + Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 23206757 23206758 - C INS NUPL2 NM_007342 human genbank 54_36p 1 validated frame_shift_ins c.1140_1141 p.A380fs 0.000:0.000 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors PCLO 27445 hgsc.bcm.edu 36 7 82228628 82228628 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 82228628 82228628 G A SNP PCLO NM_033026 human genbank 54_36p -1 validated missense c.15125 p.S5042F 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" "superfamily_FYVE/PHD zinc finger,HMMPfam_zf-piccolo,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors PCOLCE 5118 hgsc.bcm.edu 36 7 100043349 100043350 + Frame_Shift_Ins INS - - C novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 100043349 100043350 - C INS PCOLCE NM_002593 human genbank 54_36p 1 reviewed frame_shift_ins c.1166_1167 p.M392fs 0.996:0.941 "superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" - no_errors PDAP1 11333 hgsc.bcm.edu 36 7 98839005 98839005 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 98839005 98839005 C - DEL PDAP1 NM_014891 human genbank 54_36p -1 validated frame_shift_del c.165 p.K56fs 1 NULL HMMPfam_PP28 "(deletion:cds_exon[98838957,98839064])" no_errors PDAP1 11333 hgsc.bcm.edu 36 7 98839005 98839005 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 98839005 98839005 C - DEL PDAP1 NM_014891 human genbank 54_36p -1 validated frame_shift_del c.165 p.K56fs 1 NULL HMMPfam_PP28 "(deletion:cds_exon[98838957,98839064])" no_errors PIK3CG 5294 hgsc.bcm.edu 36 7 106296575 106296575 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 106296575 106296575 G T SNP PIK3CG NM_002649 human genbank 54_36p 1 reviewed missense c.1333 p.A445S 0.19 "HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2" ############################################################################################################################################################################################################################################################### - no_errors PILRB 29990 hgsc.bcm.edu 36 7 99795065 99795067 + In_Frame_Del DEL CCT CCT - rs5886120 Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 CCT CCT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 99795065 99795067 CCT - DEL PILRB NM_013440 human genbank 54_36p 1 reviewed in_frame_del c.624_626 p.L212in_frame_del 0.000:0.000:0.000 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "(deletion:cds_exon[99794896,99795096])" no_errors PION 54103 hgsc.bcm.edu 36 7 76788041 76788041 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 76788041 76788041 C T SNP PION NM_017439 human genbank 54_36p -1 validated missense c.2026 p.V676I 0.94 NULL NULL - no_errors PION 54103 hgsc.bcm.edu 36 7 76842310 76842310 + Splice_Site SNP C C T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 76842310 76842310 C T SNP PION NM_017439 human genbank 54_36p -1 validated splice_site c.785+1 e11+1 0.99 - - - no_errors PKD1L1 168507 hgsc.bcm.edu 36 7 47819381 47819382 + Frame_Shift_Del DEL AG AG - novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 AG AG . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 47819381 47819382 AG - DEL PKD1L1 NM_138295 human genbank 54_36p -1 reviewed frame_shift_del c.7209_7208 p.S2403fs 0.000:0.000 HMMPfam_PKD_channel "HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PKD,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_PKD_channel" "(deletion:cds_exon[47819244,47819416])" no_errors PKD1L1 168507 hgsc.bcm.edu 36 7 47871376 47871376 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 47871376 47871376 A G SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.4112 p.V1371A 0.01 NULL "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PLEKHA8 84725 hgsc.bcm.edu 36 7 30061427 30061427 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 30061427 30061427 G T SNP PLEKHA8 NM_032639 human genbank 54_36p 1 provisional missense c.983 p.S328I 1 "superfamily_Glycolipid_transfer_prot,HMMPfam_GLTP" "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729,superfamily_Glycolipid_transfer_prot,HMMPfam_GLTP" - no_errors PLXNA4 91584 hgsc.bcm.edu 36 7 131503749 131503749 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 131503749 131503749 C G SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.4140 p.M1380I 1 "HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors POLM 27434 hgsc.bcm.edu 36 7 44084929 44084929 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 44084929 44084929 G C SNP POLM NM_013284 human genbank 54_36p -1 validated missense c.649 p.L217V 1 "superfamily_DNApol_B_N_like,HMMSmart_POLXc" "HMMSmart_BRCT,superfamily_BRCT,superfamily_DNApol_B_N_like,HMMSmart_POLXc,superfamily_DNA_pol_lambd_fingers_domain,HMMPfam_DNA_pol_lambd_f,superfamily_SSF81301,PatternScan_DNA_POLYMERASE_X" - no_errors PON3 5446 hgsc.bcm.edu 36 7 94831193 94831193 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 94831193 94831193 G C SNP PON3 NM_000940 human genbank 54_36p -1 reviewed missense c.613 p.L205V 0.71 "superfamily_Calcium-dependent phosphotriesterase,HMMPfam_Arylesterase" "superfamily_Calcium-dependent phosphotriesterase,HMMPfam_Arylesterase" - no_errors POP7 10248 hgsc.bcm.edu 36 7 100142479 100142479 + Silent SNP G G A novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 100142479 100142479 G A SNP POP7 NM_005837 human genbank 54_36p 1 validated silent c.90 p.L30 0.99 NULL "superfamily_AlbA-like,HMMPfam_Alba" - no_errors PPP1R3A 5506 hgsc.bcm.edu 36 7 113305079 113305079 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 113305079 113305079 C T SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.3304 p.V1102I 1 NULL HMMPfam_CBM_21 - no_errors PPP1R9A 55607 hgsc.bcm.edu 36 7 94578512 94578512 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture SOLID SOLID 7 94578512 94578512 C G SNP PPP1R9A NM_017650 human genbank 54_36p 1 validated missense c.1401 p.F467L 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors PTPN12 5782 hgsc.bcm.edu 36 7 77004876 77004876 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 77004876 77004876 A C SNP PTPN12 NM_002835 human genbank 54_36p 1 reviewed missense c.77 p.D26A 1 superfamily_SSF52799 "superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPN12 5782 hgsc.bcm.edu 36 7 77085743 77085743 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 77085743 77085743 A T SNP PTPN12 NM_002835 human genbank 54_36p 1 reviewed missense c.950 p.N317I 0.96 NULL "HMMPfam_Y_phosphatase,HMMSmart_PTPc,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799" - no_errors PTPN12 5782 hgsc.bcm.edu 36 7 77105966 77105966 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 77105966 77105966 A G SNP PTPN12 NM_002835 human genbank 54_36p 1 reviewed missense c.2263 p.T755A 0.98 NULL "HMMPfam_Y_phosphatase,HMMSmart_PTPc,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799" - no_errors PTPRZ1 5803 hgsc.bcm.edu 36 7 121395259 121395259 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 121395259 121395259 A T SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed missense c.143 p.N48I 1 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors RELN 5649 hgsc.bcm.edu 36 7 102900523 102900523 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 102900523 102900523 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.10355 p.R3452K 1 NULL "HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase" - no_errors RELN 5649 hgsc.bcm.edu 36 7 102911424 102911424 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 102911424 102911424 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.10093 p.V3365I 0.99 NULL "HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196" - no_errors RELN 5649 hgsc.bcm.edu 36 7 103064116 103064116 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 103064116 103064116 A G SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.2105 p.M702T 1 superfamily_SSF57196 "HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196" - no_errors RSPH10B2 728194 hgsc.bcm.edu 36 7 6795811 6795811 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 6795811 6795811 G A SNP RSPH10B2 NM_001099697 human genbank 54_36p 1 provisional missense c.2035 p.A679T 0 NULL "HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698" - no_errors SAMD9 54809 hgsc.bcm.edu 36 7 92571191 92571191 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 92571191 92571191 T G SNP SAMD9 NM_017654 human genbank 54_36p -1 validated missense c.2156 p.Q719P 0.74 NULL "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors SAMD9L 219285 hgsc.bcm.edu 36 7 92601456 92601456 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 92601456 92601456 G A SNP SAMD9L NM_152703 human genbank 54_36p -1 validated nonsense c.1765 p.R589* 0.02 NULL superfamily_SAM/Pointed domain - no_errors SAMD9L 219285 hgsc.bcm.edu 36 7 92603061 92603061 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 92603061 92603061 C T SNP SAMD9L NM_152703 human genbank 54_36p -1 validated missense c.160 p.D54N 0.88 superfamily_SAM/Pointed domain superfamily_SAM/Pointed domain - no_errors SCIN 85477 hgsc.bcm.edu 36 7 12658046 12658046 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 12658046 12658046 A C SNP SCIN NM_033128 human genbank 54_36p 1 validated missense c.1274 p.K425T 1 "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin" "superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors SCRN1 9805 hgsc.bcm.edu 36 7 29950282 29950282 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 29950282 29950282 A G SNP SCRN1 NM_014766 human genbank 54_36p -1 reviewed missense c.380 p.L127S 1 NULL NULL - no_errors SEMA3A 10371 hgsc.bcm.edu 36 7 83478477 83478477 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 83478477 83478477 C A SNP SEMA3A NM_006080 human genbank 54_36p -1 reviewed missense c.883 p.V295L 1 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors SEMA3E 9723 hgsc.bcm.edu 36 7 82875639 82875639 + Silent SNP G G A novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 82875639 82875639 G A SNP SEMA3E NM_012431 human genbank 54_36p -1 provisional silent c.651 p.D217 0.91 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors SLC12A9 56996 hgsc.bcm.edu 36 7 100292535 100292537 + In_Frame_Del DEL CGG CGG - novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 CGG CGG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 100292535 100292537 CGG - DEL SLC12A9 NM_020246 human genbank 54_36p 1 validated in_frame_del c.558_560 p.G187in_frame_del 0.583:0.950:0.986 HMMPfam_AA_permease HMMPfam_AA_permease "(deletion:cds_exon[100292426,100292734])" no_errors SLC13A1 6561 hgsc.bcm.edu 36 7 122574465 122574465 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 122574465 122574465 C T SNP SLC13A1 NM_022444 human genbank 54_36p -1 validated missense c.796 p.A266T 0.99 HMMPfam_Na_sulph_symp "HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE" - no_errors SLC26A4 5172 hgsc.bcm.edu 36 7 107129629 107129629 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 107129629 107129629 C A SNP SLC26A4 NM_000441 human genbank 54_36p 1 reviewed missense c.1925 p.S642Y 1 "superfamily_STAS,HMMPfam_STAS" "PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors SLC26A5 375611 hgsc.bcm.edu 36 7 102806180 102806180 + Silent SNP G G A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 102806180 102806180 G A SNP SLC26A5 NM_198999 human genbank 54_36p -1 validated silent c.1734 p.Y578 1 "HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa" "PatternScan_SLC26A,HMMPfam_Sulfate_transp,HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa" - no_errors SLC37A3 84255 hgsc.bcm.edu 36 7 139705029 139705029 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 139705029 139705029 T A SNP SLC37A3 NM_207113 human genbank 54_36p -1 validated missense c.401 p.E134V 0.99 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SND1 27044 hgsc.bcm.edu 36 7 127315251 127315251 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 127315251 127315251 T A SNP SND1 NM_014390 human genbank 54_36p 1 validated missense c.1404 p.D468E 1 "superfamily_Staphylococal_nuclease_OB-fold,HMMPfam_SNase,HMMSmart_SNc" "PatternScan_TNASE_1,superfamily_Staphylococal_nuclease_OB-fold,HMMSmart_SNc,HMMPfam_SNase,PatternScan_TNASE_2,HMMPfam_TUDOR,HMMSmart_TUDOR" - no_errors SND1 27044 hgsc.bcm.edu 36 7 127514303 127514303 + Silent SNP G G C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 127514303 127514303 G C SNP SND1 NM_014390 human genbank 54_36p 1 validated silent c.2382 p.T794 0.99 "HMMPfam_TUDOR,superfamily_Staphylococal_nuclease_OB-fold" "PatternScan_TNASE_1,PatternScan_TNASE_2,HMMSmart_TUDOR,HMMPfam_SNase,HMMSmart_SNc,HMMPfam_TUDOR,superfamily_Staphylococal_nuclease_OB-fold" - no_errors SNX8 29886 hgsc.bcm.edu 36 7 2278112 2278112 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 2278112 2278112 C A SNP SNX8 NM_013321 human genbank 54_36p -1 provisional missense c.439 p.A147S 1 "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" - no_errors SOSTDC1 25928 hgsc.bcm.edu 36 7 16468964 16468964 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 16468964 16468964 C T SNP SOSTDC1 NM_015464 human genbank 54_36p -1 reviewed missense c.355 p.G119R 0.97 HMMPfam_Sclerostin HMMPfam_Sclerostin - no_errors STAG3 10734 hgsc.bcm.edu 36 7 99617665 99617665 + Silent SNP T T C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 99617665 99617665 T C SNP STAG3 NM_012447 human genbank 54_36p 1 validated silent c.133 p.L45 0.03 NULL "superfamily_ARM repeat,HMMPfam_STAG" - no_errors SUMF2 25870 hgsc.bcm.edu 36 7 56099526 56099527 + In_Frame_Ins INS - - AGT novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 56099526 56099527 - AGT INS SUMF2 NM_015411 human genbank 54_36p 1 reviewed in_frame_ins c.28_29 p.P10in_frame_insQS 0.000:0.000 NULL "HMMPfam_DUF323,superfamily_C-type lectin-like" - no_errors TBX20 57057 hgsc.bcm.edu 36 7 35208707 35208707 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 35208707 35208707 T C SNP TBX20 NM_001077653 human genbank 54_36p -1 validated missense c.1204 p.I402V 1 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBXAS1 6916 hgsc.bcm.edu 36 7 139308389 139308389 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 139308389 139308389 C T SNP TBXAS1 NM_001061 human genbank 54_36p 1 reviewed missense c.1025 p.A342V 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors TMEM130 222865 hgsc.bcm.edu 36 7 98284141 98284141 + Splice_Site SNP C C A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 98284141 98284141 C A SNP TMEM130 NM_152913 human genbank 54_36p -1 validated splice_site c.1119+1 e7+1 0.99 - - - no_errors TMEM130 222865 hgsc.bcm.edu 36 7 98290870 98290870 + Silent SNP G G T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 98290870 98290870 G T SNP TMEM130 NM_152913 human genbank 54_36p -1 validated silent c.732 p.G244 1 NULL superfamily_PKD domain - no_errors TMEM176A 55365 hgsc.bcm.edu 36 7 150131718 150131718 + Missense_Mutation SNP C C A novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 150131718 150131718 C A SNP TMEM176A NM_018487 human genbank 54_36p 1 validated missense c.420 p.F140L 0 HMMPfam_LR8 HMMPfam_LR8 - no_errors TRIM73 375593 hgsc.bcm.edu 36 7 74870941 74870941 + Missense_Mutation SNP A A C rs3095183 Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 74870941 74870941 A C SNP TRIM73 NM_198924 human genbank 54_36p 1 provisional missense c.477 p.K159N 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX" - no_errors TRRAP 8295 hgsc.bcm.edu 36 7 98414417 98414417 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 98414417 98414417 C T SNP TRRAP NM_003496 human genbank 54_36p 1 validated missense c.8513 p.A2838V 1 "superfamily_ARM repeat,superfamily_Protein prenylyltransferase,HMMPfam_FAT" "superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC" - no_errors TRYX3 136541 hgsc.bcm.edu 36 7 141601463 141601463 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 141601463 141601463 T A SNP uc003vxc.2 ENST00000304182 human ensembl 54_36p -1 known missense c.325 p.T109S 0 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "PatternScan_TRYPSIN_SER,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" - no_errors TXNDC3 51314 hgsc.bcm.edu 36 7 37873982 37873982 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 37873982 37873982 G A SNP TXNDC3 NM_016616 human genbank 54_36p 1 validated missense c.775 p.E259K 0 superfamily_NDK "PatternScan_NDP_KINASES,HMMPfam_Thioredoxin,superfamily_Thiordxn-like_fd,PatternScan_THIOREDOXIN_1,superfamily_NDK,HMMSmart_NDK,HMMPfam_NDK" - no_errors VIPR2 7434 hgsc.bcm.edu 36 7 158627967 158627967 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 158627967 158627967 T A SNP VIPR2 NM_003382 human genbank 54_36p -1 validated missense c.83 p.H28L 1 superfamily_SSF111418 "superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors WDR60 55112 hgsc.bcm.edu 36 7 158397111 158397111 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 158397111 158397111 G C SNP WDR60 NM_018051 human genbank 54_36p 1 validated missense c.1570 p.G524R 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors WIPI2 26100 hgsc.bcm.edu 36 7 5235840 5235840 + Silent SNP A A G rs34104542 byFrequency TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 5235840 5235840 A G SNP WIPI2 NM_015610 human genbank 54_36p 1 validated silent c.1197 p.T399 0.99 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320" - no_errors WNT16 51384 hgsc.bcm.edu 36 7 120759114 120759115 + Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 120759114 120759115 - G INS WNT16 NM_057168 human genbank 54_36p 1 reviewed frame_shift_ins c.493_494 p.C168fs 1.000:1.000 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors WNT2 7472 hgsc.bcm.edu 36 7 116747964 116747964 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 116747964 116747964 C T SNP WNT2 NM_003391 human genbank 54_36p -1 reviewed missense c.203 p.G68D 0.98 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors ZC3HAV1 56829 hgsc.bcm.edu 36 7 138383002 138383002 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 138383002 138383002 G A SNP ZC3HAV1 NM_020119 human genbank 54_36p -1 reviewed nonsense c.2587 p.Q863* 0 "superfamily_ADP-ribosylation,HMMPfam_PARP" "HMMPfam_zf-CCCH,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors ZCWPW1 55063 hgsc.bcm.edu 36 7 99852628 99852628 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 99852628 99852628 T G SNP ZCWPW1 NM_017984 human genbank 54_36p -1 validated missense c.476 p.N159T 0.1 NULL "HMMPfam_zf-CW,superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293" - no_errors ZMIZ2 83637 hgsc.bcm.edu 36 7 44766684 44766684 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 44766684 44766684 C G SNP ZMIZ2 NM_031449 human genbank 54_36p 1 validated missense c.1207 p.P403A 1 NULL "superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors ZMIZ2 83637 hgsc.bcm.edu 36 7 44770599 44770599 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 44770599 44770599 T A SNP ZMIZ2 NM_031449 human genbank 54_36p 1 validated nonsense c.1917 p.C639* 1 "HMMPfam_zf-MIZ,superfamily_RING/U-box" "HMMPfam_zf-MIZ,superfamily_RING/U-box" - no_errors ZNF277 11179 hgsc.bcm.edu 36 7 111745520 111745520 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 7 111745520 111745520 T G SNP ZNF277 NM_021994 human genbank 54_36p 1 validated missense c.513 p.F171L 1 NULL "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF789 285989 hgsc.bcm.edu 36 7 98919686 98919686 + Silent SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 98919686 98919686 C T SNP ZNF789 NM_213603 human genbank 54_36p 1 validated silent c.249 p.S83 0 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF804B 219578 hgsc.bcm.edu 36 7 88801682 88801682 + Missense_Mutation SNP C C A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 7 88801682 88801682 C A SNP ZNF804B NM_181646 human genbank 54_36p 1 provisional missense c.1450 p.L484I 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors tcag7.1071 100130988 hgsc.bcm.edu 36 7 50151452 50151452 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 7 50151452 50151452 A G SNP LOC100130988 XM_001713888 human genbank 54_36p 1 model missense c.887 p.D296G 0.54 NULL NULL - no_errors ADAM2 2515 hgsc.bcm.edu 36 8 39732459 39732459 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 39732459 39732459 T G SNP ADAM2 NM_001464 human genbank 54_36p -1 reviewed missense c.1742 p.H581P 0 "HMMSmart_SM00608,HMMPfam_ADAM_CR" ############################################################################################################################################################################################################################################################### - no_errors ADAM9 8754 hgsc.bcm.edu 36 8 39048016 39048016 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 39048016 39048016 C A SNP ADAM9 NM_003816 human genbank 54_36p 1 reviewed missense c.1634 p.S545Y 1 "HMMSmart_SM00608,HMMPfam_ADAM_CR" ############################################################################################################################################################################################################################################################### - no_errors ARFGEF1 10565 hgsc.bcm.edu 36 8 68286377 68286377 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 68286377 68286377 T C SNP ARFGEF1 NM_006421 human genbank 54_36p -1 reviewed missense c.4714 p.I1572V 1 NULL "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors ARFGEF1 10565 hgsc.bcm.edu 36 8 68366670 68366670 + Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T A A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 68366670 68366670 T A SNP ARFGEF1 NM_006421 human genbank 54_36p -1 reviewed missense c.882 p.E294D 1 superfamily_ARM-type_fold "HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_DUF1981,superfamily_ARM-type_fold" - no_errors ASAP1 50807 hgsc.bcm.edu 36 8 131234209 131234209 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 131234209 131234209 C A SNP ASAP1 NM_018482 human genbank 54_36p -1 validated missense c.1035 p.R345S 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors ASPH 444 hgsc.bcm.edu 36 8 62713068 62713068 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 62713068 62713068 A G SNP ASPH NM_004318 human genbank 54_36p -1 validated missense c.881 p.I294T 0.38 "HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452" "HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452,HMMPfam_Asp_Arg_Hydrox,superfamily_SSF51197" - no_errors ATAD2 29028 hgsc.bcm.edu 36 8 124409656 124409656 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 124409656 124409656 A T SNP ATAD2 NM_014109 human genbank 54_36p -1 reviewed missense c.3823 p.S1275T 0 NULL "HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors BLK 640 hgsc.bcm.edu 36 8 11452930 11452930 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 11452930 11452930 C T SNP BLK NM_001715 human genbank 54_36p 1 validated missense c.1003 p.P335S 0.15 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" - no_errors BMP1 649 hgsc.bcm.edu 36 8 22120354 22120354 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 22120354 22120354 C T SNP BMP1 NM_006129 human genbank 54_36p 1 reviewed missense c.2276 p.T759I 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" ############################################################################################################################################################################################################################################################### - no_errors C8orf4 56892 hgsc.bcm.edu 36 8 40130275 40130275 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 40130275 40130275 C T SNP C8orf4 NM_020130 human genbank 54_36p 1 reviewed missense c.67 p.H23Y 1 NULL NULL - no_errors C8orf76 84933 hgsc.bcm.edu 36 8 124301591 124301591 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 124301591 124301591 C A SNP C8orf76 NM_032847 human genbank 54_36p -1 predicted missense c.1076 p.R359I 0.91 NULL superfamily_SSF48452 - no_errors C8orf80 389643 hgsc.bcm.edu 36 8 27942821 27942821 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 27942821 27942821 C T SNP C8orf80 NM_001010906 human genbank 54_36p -1 predicted missense c.2035 p.G679S 0.99 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CDH17 1015 hgsc.bcm.edu 36 8 95227398 95227398 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 95227398 95227398 G T SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed missense c.2101 p.P701T 0 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors CDH17 1015 hgsc.bcm.edu 36 8 95276051 95276051 + Silent SNP A A T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 95276051 95276051 A T SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed silent c.39 p.L13 0.53 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors CHRAC1 54108 hgsc.bcm.edu 36 8 141590819 141590819 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 141590819 141590819 G A SNP CHRAC1 NM_017444 human genbank 54_36p 1 validated silent c.39 p.E13 0.48 NULL "HMMPfam_CBFD_NFYB_HMF,superfamily_Histone-fold" - no_errors CHRNA2 1135 hgsc.bcm.edu 36 8 27383391 27383392 + Frame_Shift_Ins INS - - GGGTGGA novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 27383391 27383392 - GGGTGGA INS CHRNA2 NM_000742 human genbank 54_36p -1 validated frame_shift_ins c.98_97 p.P33fs 0.000:0.000 NULL "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHRNA6 8973 hgsc.bcm.edu 36 8 42730211 42730211 + Nonsense_Mutation SNP C C A novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 42730211 42730211 C A SNP CHRNA6 NM_004198 human genbank 54_36p -1 provisional nonsense c.1288 p.E430* 0.81 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CLN8 2055 hgsc.bcm.edu 36 8 1707013 1707013 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 1707013 1707013 G A SNP CLN8 NM_018941 human genbank 54_36p 1 reviewed missense c.386 p.R129Q 0.93 "HMMSmart_TLC,HMMPfam_TRAM_LAG1_CLN8" "HMMSmart_TLC,HMMPfam_TRAM_LAG1_CLN8" - no_errors CLU 1191 hgsc.bcm.edu 36 8 27518486 27518486 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 27518486 27518486 G A SNP CLU NM_001831 human genbank 54_36p -1 validated missense c.857 p.P286L 0 "HMMPfam_Clusterin,HMMSmart_CLa" "HMMPfam_Clusterin,HMMSmart_CLb,PatternScan_CLUSTERIN_1,HMMSmart_CLa,PatternScan_CLUSTERIN_2" - no_errors CNGB3 54714 hgsc.bcm.edu 36 8 87748405 87748405 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 87748405 87748405 C T SNP CNGB3 NM_019098 human genbank 54_36p -1 validated missense c.716 p.R239H 1 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors COL14A1 7373 hgsc.bcm.edu 36 8 121291214 121291214 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 121291214 121291214 G A SNP COL14A1 NM_021110 human genbank 54_36p 1 validated missense c.1360 p.V454M 1 "HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL14A1 7373 hgsc.bcm.edu 36 8 121329057 121329057 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 121329057 121329057 T C SNP COL14A1 NM_021110 human genbank 54_36p 1 validated missense c.2504 p.L835S 0.94 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL14A1 7373 hgsc.bcm.edu 36 8 121379005 121379005 + Silent SNP C C A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 121379005 121379005 C A SNP COL14A1 NM_021110 human genbank 54_36p 1 validated silent c.4311 p.G1437 0.7 superfamily_Concanavalin A-like lectins/glucanases "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 hgsc.bcm.edu 36 8 139705180 139705180 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 139705180 139705180 T C SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.3748 p.K1250E 0.97 HMMPfam_Collagen "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL22A1 169044 hgsc.bcm.edu 36 8 139772290 139772290 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 139772290 139772290 C T SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.2764 p.G922R 0.41 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 hgsc.bcm.edu 36 8 139959730 139959730 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 139959730 139959730 C T SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.103 p.V35I 1 superfamily_vWA-like "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COMMD5 28991 hgsc.bcm.edu 36 8 146047509 146047509 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 146047509 146047509 C T SNP COMMD5 NM_001081003 human genbank 54_36p -1 validated missense c.19 p.A7T 0.74 NULL HMMPfam_HCaRG - no_errors COPS5 10987 hgsc.bcm.edu 36 8 68136660 68136660 + Silent SNP C C A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 68136660 68136660 C A SNP COPS5 NM_006837 human genbank 54_36p -1 reviewed silent c.126 p.A42 1 NULL "HMMPfam_Mov34,superfamily_SSF102712,HMMSmart_JAB_MPN" - no_errors CRISPLD1 83690 hgsc.bcm.edu 36 8 76087259 76087259 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 76087259 76087259 T A SNP CRISPLD1 NM_031461 human genbank 54_36p 1 validated missense c.295 p.W99R 1 "superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP" "superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,PatternScan_CRISP_2,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL" - no_errors CSMD1 64478 hgsc.bcm.edu 36 8 3250958 3250958 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 3250958 3250958 T A SNP CSMD1 ENST00000335551 human ensembl 54_36p -1 known missense c.725 p.E242V 1 "superfamily_Complement control module/SCR domain,superfamily_Spermadhesin CUB domain" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_GLYCOSYL_HYDROL_F10" - no_start_codon CSMD1 64478 hgsc.bcm.edu 36 8 3254406 3254406 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 3254406 3254406 C - DEL CSMD1 NM_033225 human genbank 54_36p -1 validated frame_shift_del c.1694 p.S565fs 0.92 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" "(deletion:cds_exon[3254352,3254535])" pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSPP1 79848 hgsc.bcm.edu 36 8 68268328 68268329 + Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 68268328 68268329 - G INS CSPP1 NM_001077204 human genbank 54_36p 1 validated frame_shift_ins c.3496_3497 p.V1167fs 1.000:1.000 NULL NULL - no_errors CTHRC1 115908 hgsc.bcm.edu 36 8 104459599 104459599 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 104459599 104459599 G C SNP CTHRC1 NM_138455 human genbank 54_36p 1 provisional missense c.541 p.G181R 1 NULL HMMPfam_Collagen - no_errors CYC1 1537 hgsc.bcm.edu 36 8 145223514 145223515 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 145223514 145223515 CT - DEL CYC1 NM_001916 human genbank 54_36p 1 validated frame_shift_del c.651_652 p.Y218fs 1.000:1.000 "superfamily_Cytochrome c,HMMPfam_Cytochrom_C1" "superfamily_Cytochrome c,HMMPfam_Cytochrom_C1,superfamily_Cytochrome c1 subunit of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) transmembrane anchor" "(deletion:cds_exon[145223475,145223635])" no_errors CYP11B2 1585 hgsc.bcm.edu 36 8 143993485 143993485 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 143993485 143993485 T - DEL CYP11B2 NM_000498 human genbank 54_36p -1 reviewed frame_shift_del c.574 p.I192fs 0.99 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" "(deletion:cds_exon[143993464,143993663])" no_errors CYP7B1 9420 hgsc.bcm.edu 36 8 65690838 65690838 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 65690838 65690838 C T SNP CYP7B1 NM_004820 human genbank 54_36p -1 reviewed missense c.814 p.E272K 1 superfamily_Cytochrome P450 "superfamily_Cytochrome P450,HMMPfam_p450" - no_errors DDHD2 23259 hgsc.bcm.edu 36 8 38229450 38229450 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 38229450 38229450 T G SNP DDHD2 NM_015214 human genbank 54_36p 1 provisional missense c.1671 p.F557L 1 HMMPfam_DDHD "HMMPfam_WWE,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain,HMMPfam_DDHD" - no_errors DEFB105B 504180 hgsc.bcm.edu 36 8 7332663 7332663 + Missense_Mutation SNP T T A rs62639778 Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 7332663 7332663 T A SNP DEFB105B NM_001040703 human genbank 54_36p 1 reviewed missense c.11 p.I4N 0 NULL HMMPfam_Defensin_beta - no_errors DLC1 10395 hgsc.bcm.edu 36 8 12992135 12992136 + Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 12992135 12992136 - T INS DLC1 NM_182643 human genbank 54_36p -1 reviewed frame_shift_ins c.4071_4070 p.K1358fs 1.000:1.000 "superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" "HMMPfam_SAM_2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors DLC1 10395 hgsc.bcm.edu 36 8 12992326 12992326 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 12992326 12992326 G A SNP DLC1 NM_182643 human genbank 54_36p -1 reviewed missense c.3880 p.R1294C 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like" - no_errors DOK2 9046 hgsc.bcm.edu 36 8 21823005 21823006 + Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 21823005 21823006 - A INS DOK2 NM_003974 human genbank 54_36p -1 reviewed frame_shift_ins c.1002_1001 p.E334fs 0.930:0.930 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors EIF3E 3646 hgsc.bcm.edu 36 8 109284401 109284401 + Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 109284401 109284401 T - DEL EIF3E NM_001568 human genbank 54_36p -1 validated frame_shift_del c.1286 p.N429fs 1 NULL "HMMPfam_eIF3_N,HMMPfam_PCI,HMMSmart_SM00088,superfamily_Winged helix DNA-binding domain" "(deletion:cds_exon[109284388,109284522])" no_errors EIF3E 3646 hgsc.bcm.edu 36 8 109284401 109284401 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 109284401 109284401 T A SNP EIF3E NM_001568 human genbank 54_36p -1 validated missense c.1286 p.N429I 1 NULL "HMMPfam_PCI,HMMSmart_SM00088,HMMPfam_eIF3_N,superfamily_Winged helix DNA-binding domain" - no_errors ENPP2 5168 hgsc.bcm.edu 36 8 120665457 120665457 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 120665457 120665457 C T SNP ENPP2 NM_006209 human genbank 54_36p -1 reviewed missense c.1537 p.V513I 1 "superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest" "HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477,HMMPfam_Endonuclease_NS" - no_errors ENTPD4 9583 hgsc.bcm.edu 36 8 23361322 23361322 + Silent SNP G G A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 23361322 23361322 G A SNP ENTPD4 NM_004901 human genbank 54_36p -1 validated silent c.228 p.D76 1 NULL "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors EXTL3 2137 hgsc.bcm.edu 36 8 28630037 28630038 + In_Frame_Ins INS - - CCATGT novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 28630037 28630038 - CCATGT INS EXTL3 NM_001440 human genbank 54_36p 1 provisional in_frame_ins c.542_543 p.182in_frame_insHV 1.000:0.992 NULL "HMMPfam_Exostosin,superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64" - no_errors EYA1 2138 hgsc.bcm.edu 36 8 72291551 72291551 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 72291551 72291551 C A SNP EYA1 NM_000503 human genbank 54_36p -1 reviewed missense c.1290 p.W430C 1 HMMPfam_Hydrolase HMMPfam_Hydrolase - no_errors FABP4 2167 hgsc.bcm.edu 36 8 82553699 82553699 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 82553699 82553699 C T SNP FABP4 NM_001442 human genbank 54_36p -1 reviewed missense c.355 p.V119I 0.96 "superfamily_Lipocalins,HMMPfam_Lipocalin" "superfamily_Lipocalins,HMMPfam_Lipocalin,PatternScan_FABP" - no_errors FAM160B2 64760 hgsc.bcm.edu 36 8 22011997 22011998 + Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 22011997 22011998 - A INS FAM160B2 ENST00000289921 human ensembl 54_36p 1 known frame_shift_ins c.886_887 p.H296fs 0.941:0.993 HMMPfam_RAI16-like HMMPfam_RAI16-like - no_errors FAM82B 51115 hgsc.bcm.edu 36 8 87567829 87567829 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 87567829 87567829 C T SNP FAM82B NM_016033 human genbank 54_36p -1 validated silent c.495 p.K165 1 superfamily_Prenyl_trans superfamily_Prenyl_trans - no_errors FBXO25 26260 hgsc.bcm.edu 36 8 408740 408740 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 408740 408740 C A SNP FBXO25 NM_183421 human genbank 54_36p 1 reviewed missense c.1040 p.A347D 0.89 NULL "HMMPfam_F-box,superfamily_F-box domain" - no_errors FER1L6 654463 hgsc.bcm.edu 36 8 125116842 125116842 + Silent SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 125116842 125116842 C T SNP FER1L6 NM_001039112 human genbank 54_36p 1 validated silent c.2430 p.G810 0 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors FGFR1 2260 hgsc.bcm.edu 36 8 38394953 38394953 + Silent SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 38394953 38394953 G A SNP FGFR1 NM_023110 human genbank 54_36p -1 reviewed silent c.1380 p.V460 1 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors FLJ43860 389690 hgsc.bcm.edu 36 8 142545775 142545775 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 142545775 142545775 G T SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.2393 p.T798N 0.01 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - pseudogene FZD3 7976 hgsc.bcm.edu 36 8 28441484 28441484 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G C C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 28441484 28441484 G C SNP FZD3 NM_017412 human genbank 54_36p 1 reviewed missense c.1288 p.V430L 1 HMMPfam_Frizzled "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled" - no_errors GSDMC 56169 hgsc.bcm.edu 36 8 130844119 130844119 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 130844119 130844119 G C SNP GSDMC NM_031415 human genbank 54_36p -1 validated missense c.611 p.A204G 0 HMMPfam_Gasdermin HMMPfam_Gasdermin - no_errors HAS2 3037 hgsc.bcm.edu 36 8 122710201 122710201 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 122710201 122710201 C A SNP HAS2 NM_005328 human genbank 54_36p -1 reviewed missense c.561 p.W187C 1 superfamily_SSF53448 "superfamily_SSF53448,HMMPfam_Glycos_transf_2" - no_errors HOOK3 84376 hgsc.bcm.edu 36 8 42933554 42933554 + Silent SNP A A C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 42933554 42933554 A C SNP HOOK3 NM_032410 human genbank 54_36p 1 validated silent c.555 p.L185 0.99 HMMPfam_HOOK HMMPfam_HOOK - no_errors KIAA0196 9897 hgsc.bcm.edu 36 8 126149123 126149123 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 126149123 126149123 G A SNP KIAA0196 NM_014846 human genbank 54_36p -1 validated missense c.1171 p.R391C 1 HMMPfam_Strumpellin HMMPfam_Strumpellin - no_errors KIAA1429 25962 hgsc.bcm.edu 36 8 95577260 95577260 + Silent SNP C C T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 95577260 95577260 C T SNP KIAA1429 NM_015496 human genbank 54_36p -1 validated silent c.4419 p.L1473 1 NULL NULL - no_errors KIAA1967 57805 hgsc.bcm.edu 36 8 22531809 22531809 + Silent SNP C C G novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 22531809 22531809 C G SNP KIAA1967 NM_021174 human genbank 54_36p 1 validated silent c.2076 p.P692 1 NULL NULL - no_errors LACTB2 51110 hgsc.bcm.edu 36 8 71715796 71715796 + Silent SNP T T C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 71715796 71715796 T C SNP LACTB2 NM_016027 human genbank 54_36p -1 validated silent c.636 p.Q212 0.39 superfamily_SSF56281 "superfamily_SSF56281,HMMPfam_Lactamase_B" - no_errors LYPD2 137797 hgsc.bcm.edu 36 8 143829479 143829479 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 143829479 143829479 C T SNP LYPD2 NM_205545 human genbank 54_36p -1 provisional missense c.170 p.R57Q 0.96 "superfamily_SSF57302,HMMSmart_LU,PatternScan_LY6_UPAR,HMMPfam_UPAR_LY6" "superfamily_SSF57302,HMMSmart_LU,PatternScan_LY6_UPAR,HMMPfam_UPAR_LY6" - no_errors MAK16 84549 hgsc.bcm.edu 36 8 33466052 33466052 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 33466052 33466052 G A SNP MAK16 NM_032509 human genbank 54_36p 1 validated missense c.245 p.R82Q 1 HMMPfam_Mak16 HMMPfam_Mak16 - no_errors MAK16 84549 hgsc.bcm.edu 36 8 33472621 33472621 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 33472621 33472621 C T SNP MAK16 NM_032509 human genbank 54_36p 1 validated missense c.467 p.A156V 1 HMMPfam_Mak16 HMMPfam_Mak16 - no_errors MCM4 4173 hgsc.bcm.edu 36 8 49045019 49045019 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 49045019 49045019 G A SNP MCM4 NM_005914 human genbank 54_36p 1 reviewed missense c.1283 p.R428H 1 HMMSmart_MCM "superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,HMMSmart_AAA,PatternScan_MCM_1" - no_errors MMP16 4325 hgsc.bcm.edu 36 8 89198034 89198034 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 89198034 89198034 T A SNP MMP16 NM_005941 human genbank 54_36p -1 reviewed nonsense c.901 p.R301* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MTDH 92140 hgsc.bcm.edu 36 8 98800510 98800510 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 98800510 98800510 A G SNP MTDH NM_178812 human genbank 54_36p 1 validated missense c.1438 p.T480A 1 NULL NULL - no_errors MTERFD1 51001 hgsc.bcm.edu 36 8 97320977 97320977 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 97320977 97320977 A G SNP MTERFD1 NM_015942 human genbank 54_36p -1 provisional missense c.1172 p.V391A 1 HMMPfam_mTERF "HMMPfam_mTERF,HMMSmart_SM00733" - no_errors MTSS1 9788 hgsc.bcm.edu 36 8 125649854 125649854 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 125649854 125649854 T C SNP MTSS1 NM_014751 human genbank 54_36p -1 validated missense c.565 p.I189V 1 HMMPfam_IMD "HMMPfam_IMD,HMMPfam_WH2" - no_errors MYST3 7994 hgsc.bcm.edu 36 8 41920632 41920632 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 41920632 41920632 T G SNP MYST3 NM_001099412 human genbank 54_36p -1 validated missense c.2019 p.E673D 1 "superfamily_Acyl_CoA_acyltransferase,HMMPfam_MOZ_SAS" "HMMSmart_H15,superfamily_SSF46785,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,PatternScan_ZF_PHD_1,superfamily_FYVE_PHD_ZnF,superfamily_Acyl_CoA_acyltransferase,HMMPfam_MOZ_SAS" - no_errors NDRG1 10397 hgsc.bcm.edu 36 8 134338247 134338247 + Silent SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 134338247 134338247 G A SNP NDRG1 NM_006096 human genbank 54_36p -1 reviewed silent c.492 p.N164 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Ndr" "superfamily_alpha/beta-Hydrolases,HMMPfam_Ndr,PatternScan_PHOSPHOPANTETHEINE" - no_errors NDRG1 10397 hgsc.bcm.edu 36 8 134365688 134365688 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 134365688 134365688 C A SNP NDRG1 NM_006096 human genbank 54_36p -1 reviewed missense c.49 p.V17L 1 NULL "HMMPfam_Ndr,PatternScan_PHOSPHOPANTETHEINE,superfamily_alpha/beta-Hydrolases" - no_errors NRG1 3084 hgsc.bcm.edu 36 8 32625385 32625385 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 32625385 32625385 C A SNP NRG1 NM_013959 human genbank 54_36p 1 reviewed missense c.607 p.P203T 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1" - no_errors NSMAF 8439 hgsc.bcm.edu 36 8 59670733 59670733 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 59670733 59670733 G A SNP NSMAF NM_003580 human genbank 54_36p -1 reviewed missense c.1832 p.T611I 0.2 superfamily_WD40_like "PatternScan_WD_REPEATS_1,HMMPfam_GRAM,HMMSmart_GRAM,superfamily_SSF50729,superfamily_Beige_BEACH,HMMPfam_Beach,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" - no_errors NSMCE2 286053 hgsc.bcm.edu 36 8 126439178 126439178 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 126439178 126439178 A T SNP NSMCE2 NM_173685 human genbank 54_36p 1 validated missense c.562 p.T188S 1 superfamily_SSF57850 superfamily_SSF57850 - no_errors ODF1 4956 hgsc.bcm.edu 36 8 103641909 103641909 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 103641909 103641909 T C SNP ODF1 NM_024410 human genbank 54_36p 1 reviewed missense c.374 p.I125T 0.99 NULL superfamily_HSP20_chap - no_errors OTUD6B 51633 hgsc.bcm.edu 36 8 92151782 92151782 + Silent SNP G G T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 92151782 92151782 G T SNP OTUD6B NM_016023 human genbank 54_36p 1 validated silent c.84 p.L28 0.18 NULL "superfamily_Cysteine proteinases,HMMPfam_OTU" - no_errors PHF20L1 51105 hgsc.bcm.edu 36 8 133876184 133876184 + Silent SNP T T C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 133876184 133876184 T C SNP PHF20L1 NM_016018 human genbank 54_36p 1 validated silent c.279 p.V93 1 "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMSmart_SM00743" "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMSmart_SM00743,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors PINX1 54984 hgsc.bcm.edu 36 8 10660825 10660825 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 10660825 10660825 A C SNP PINX1 NM_017884 human genbank 54_36p -1 provisional missense c.483 p.S161R 0 NULL "HMMSmart_SM00443,HMMPfam_G-patch" - no_errors PKHD1L1 93035 hgsc.bcm.edu 36 8 110529723 110529723 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 110529723 110529723 G - DEL PKHD1L1 NM_177531 human genbank 54_36p 1 validated frame_shift_del c.5952 p.T1985fs 0.99 "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like" "(deletion:cds_exon[110529548,110529796])" no_errors PKIA 5569 hgsc.bcm.edu 36 8 79673225 79673225 + Silent SNP A A C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 79673225 79673225 A C SNP PKIA NM_006823 human genbank 54_36p 1 reviewed silent c.51 p.T17 1 HMMPfam_PKI HMMPfam_PKI - no_errors POLB 5423 hgsc.bcm.edu 36 8 42325742 42325742 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 42325742 42325742 G A SNP POLB NM_002690 human genbank 54_36p 1 provisional missense c.238 p.G80R 1 "superfamily_DNApol_B_N_like,HMMSmart_POLXc" "superfamily_DNApol_B_N_like,HMMSmart_POLXc,HMMSmart_HhH1,superfamily_DNA_pol_lambd_fingers_domain,HMMPfam_DNA_pol_lambd_f,superfamily_SSF81301,PatternScan_DNA_POLYMERASE_X" - no_errors PRDM14 63978 hgsc.bcm.edu 36 8 71130158 71130158 + Silent SNP A A G novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 71130158 71130158 A G SNP PRDM14 NM_024504 human genbank 54_36p -1 validated silent c.1419 p.S473 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_SET,superfamily_SSF82199,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PREX2 80243 hgsc.bcm.edu 36 8 69168445 69168445 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 69168445 69168445 C A SNP PREX2 NM_024870 human genbank 54_36p 1 validated missense c.2302 p.L768I 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PREX2 80243 hgsc.bcm.edu 36 8 69171884 69171884 + Missense_Mutation SNP A A T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 69171884 69171884 A T SNP PREX2 NM_024870 human genbank 54_36p 1 validated missense c.2447 p.H816L 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PRKDC 5591 hgsc.bcm.edu 36 8 48934837 48934837 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 48934837 48934837 G A SNP PRKDC NM_001081640 human genbank 54_36p -1 validated nonsense c.6094 p.Q2032* 1 NULL "superfamily_ARM repeat,HMMPfam_HEAT,PatternScan_SRP54" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRKDC 5591 hgsc.bcm.edu 36 8 48956613 48956613 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 48956613 48956613 T G SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known missense c.4981 p.N1661H 1 superfamily_ARM repeat "HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),HMMPfam_NUC194,superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors PSD3 23362 hgsc.bcm.edu 36 8 18458108 18458108 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 18458108 18458108 T A SNP PSD3 NM_015310 human genbank 54_36p -1 validated missense c.2819 p.K940M 1 NULL "HMMSmart_Sec7,HMMPfam_Sec7,superfamily_Sec7,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors PSD3 23362 hgsc.bcm.edu 36 8 18474377 18474377 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 18474377 18474377 C T SNP PSD3 NM_015310 human genbank 54_36p -1 validated missense c.2725 p.G909S 1 NULL "HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors PSD3 23362 hgsc.bcm.edu 36 8 18706348 18706348 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 18706348 18706348 A G SNP PSD3 NM_015310 human genbank 54_36p -1 validated missense c.1874 p.F625S 1 "HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7" "HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors PSD3 23362 hgsc.bcm.edu 36 8 18773895 18773895 + Silent SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 18773895 18773895 G A SNP PSD3 NM_015310 human genbank 54_36p -1 validated silent c.759 p.L253 0.01 NULL "HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors PTK2 5747 hgsc.bcm.edu 36 8 141898209 141898209 + Silent SNP C C A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 141898209 141898209 C A SNP PTK2 NM_005607 human genbank 54_36p -1 reviewed silent c.807 p.L269 1 "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_FERM_2,HMMPfam_Focal_AT,superfamily_Focal_AT" - no_errors PTK2B 2185 hgsc.bcm.edu 36 8 27349753 27349753 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 27349753 27349753 G C SNP PTK2B NM_004103 human genbank 54_36p 1 reviewed missense c.1312 p.E438Q 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" ############################################################################################################################################################################################################################################################### - no_errors PURG 29942 hgsc.bcm.edu 36 8 31009041 31009042 + Frame_Shift_Del DEL AA AA - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 31009041 31009042 AA - DEL PURG NM_013357 human genbank 54_36p -1 reviewed frame_shift_del c.800_799 p.F267fs 1.000:1.000 "HMMPfam_PurA,HMMSmart_SM00712" "HMMPfam_PurA,HMMSmart_SM00712" "(deletion:cds_exon[31008797,31009840])" no_errors PXDNL 137902 hgsc.bcm.edu 36 8 52395062 52395062 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 52395062 52395062 G T SNP PXDNL NM_144651 human genbank 54_36p -1 validated missense c.4334 p.T1445N 0.79 "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1" ############################################################################################################################################################################################################################################################### - no_errors PXDNL 137902 hgsc.bcm.edu 36 8 52498750 52498750 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 52498750 52498750 T C SNP PXDNL NM_144651 human genbank 54_36p -1 validated missense c.1733 p.Y578C 0.75 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors RBM12B 389677 hgsc.bcm.edu 36 8 94815321 94815321 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 94815321 94815321 C - DEL RBM12B NM_203390 human genbank 54_36p -1 validated frame_shift_del c.2494 p.E832fs 0.56 NULL "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" "(deletion:cds_exon[94814809,94817814])" no_errors RBM12B 389677 hgsc.bcm.edu 36 8 94815805 94815805 + Silent SNP T T G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 94815805 94815805 T G SNP RBM12B NM_203390 human genbank 54_36p -1 validated silent c.2010 p.P670 0 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors RP1 6101 hgsc.bcm.edu 36 8 55703740 55703740 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 55703740 55703740 G A SNP RP1 ENST00000220676 human ensembl 54_36p 1 known missense c.4745 p.C1582Y 0 NULL "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX" - no_errors RP1L1 94137 hgsc.bcm.edu 36 8 10501886 10501886 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 10501886 10501886 G C SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.7132 p.L2378V 0 NULL "superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen" - no_errors RRM2B 50484 hgsc.bcm.edu 36 8 103313684 103313684 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 103313684 103313684 T C SNP RRM2B NM_015713 human genbank 54_36p -1 validated missense c.73 p.S25G 0.04 NULL "superfamily_Ferritin-like,HMMPfam_Ribonuc_red_sm,PatternScan_RIBORED_SMALL" - no_errors SAMD12 401474 hgsc.bcm.edu 36 8 119461087 119461087 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 119461087 119461087 A C SNP SAMD12 NM_207506 human genbank 54_36p -1 validated missense c.356 p.L119R 1 "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" - no_errors SLC18A1 6570 hgsc.bcm.edu 36 8 20076209 20076209 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 20076209 20076209 G C SNP SLC18A1 NM_003053 human genbank 54_36p -1 validated missense c.574 p.L192V 0.67 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SLC26A7 115111 hgsc.bcm.edu 36 8 92424831 92424831 + Silent SNP A A T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 92424831 92424831 A T SNP SLC26A7 NM_134266 human genbank 54_36p 1 reviewed silent c.1101 p.G367 0.99 HMMPfam_Sulfate_transp "HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors SLC30A8 169026 hgsc.bcm.edu 36 8 118239252 118239252 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 118239252 118239252 C T SNP SLC30A8 NM_173851 human genbank 54_36p 1 validated missense c.560 p.A187V 0.81 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors SLC7A2 6542 hgsc.bcm.edu 36 8 17445394 17445394 + Missense_Mutation SNP C A A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 17445394 17445394 C A SNP SLC7A2 NM_003046 human genbank 54_36p 1 validated missense c.287 p.A96D 0.98 NULL HMMPfam_AA_permease - no_errors SNTG1 54212 hgsc.bcm.edu 36 8 51611868 51611868 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 51611868 51611868 C T SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed silent c.627 p.I209 1 "HMMSmart_SM00233,superfamily_PH domain-like" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors SNTG1 54212 hgsc.bcm.edu 36 8 51628207 51628207 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 51628207 51628207 G T SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed missense c.725 p.G242V 1 "HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors SNX16 64089 hgsc.bcm.edu 36 8 82898604 82898604 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 82898604 82898604 C G SNP SNX16 NM_022133 human genbank 54_36p -1 reviewed missense c.589 p.A197P 1 "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" - no_errors ST18 9705 hgsc.bcm.edu 36 8 53188438 53188438 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 53188438 53188438 T A SNP ST18 NM_014682 human genbank 54_36p -1 validated missense c.3017 p.E1006V 1 NULL "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1" - no_errors STMN4 81551 hgsc.bcm.edu 36 8 27153586 27153586 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 27153586 27153586 G A SNP STMN4 NM_030795 human genbank 54_36p -1 provisional missense c.410 p.A137V 1 "superfamily_Stathmin,HMMPfam_Stathmin" "superfamily_Stathmin,HMMPfam_Stathmin,PatternScan_STATHMIN_1,PatternScan_STATHMIN_2" - no_errors TACC1 6867 hgsc.bcm.edu 36 8 38796364 38796364 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 38796364 38796364 G A SNP TACC1 NM_006283 human genbank 54_36p 1 validated missense c.445 p.V149M 0.85 NULL HMMPfam_TACC - no_errors TAF2 6873 hgsc.bcm.edu 36 8 120883276 120883276 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 120883276 120883276 G A SNP TAF2 NM_003184 human genbank 54_36p -1 reviewed missense c.731 p.A244V 1 "superfamily_SSF63737,HMMPfam_Peptidase_M1" "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486" - no_errors TEX15 56154 hgsc.bcm.edu 36 8 30822741 30822741 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 30822741 30822741 C G SNP TEX15 NM_031271 human genbank 54_36p -1 validated missense c.3335 p.S1112T 0 NULL NULL - no_errors TG 7038 hgsc.bcm.edu 36 8 133963361 133963361 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 133963361 133963361 G A SNP TG NM_003235 human genbank 54_36p 1 validated missense c.710 p.C237Y 1 superfamily_Thyroglobulin type-1 domain "superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2" - no_errors TG 7038 hgsc.bcm.edu 36 8 133980290 133980290 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 133980290 133980290 C A SNP TG NM_003235 human genbank 54_36p 1 validated missense c.3283 p.Q1095K 0 "HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 7038 hgsc.bcm.edu 36 8 134004864 134004864 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 134004864 134004864 G C SNP TG NM_003235 human genbank 54_36p 1 validated missense c.4628 p.C1543S 1 "HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 7038 hgsc.bcm.edu 36 8 134103556 134103556 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 134103556 134103556 G A SNP TG NM_003235 human genbank 54_36p 1 validated missense c.7015 p.V2339I 0.84 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TNFRSF10A 8797 hgsc.bcm.edu 36 8 23105437 23105437 + Silent SNP G G T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 23105437 23105437 G T SNP TNFRSF10A NM_003844 human genbank 54_36p -1 reviewed silent c.1122 p.I374 0 "HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death" "superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death" - no_errors TOP1MT 116447 hgsc.bcm.edu 36 8 144474760 144474769 + Frame_Shift_Del DEL GCACTCTGTT GCACTCTGTT - novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 GCACTCTGTT GCACTCTGTT GCACTCTGTT - GCACTCTGTT GCACTCTGTT Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 144474760 144474769 GCACTCTGTT - DEL TOP1MT NM_052963 human genbank 54_36p -1 reviewed frame_shift_del c.1132_1123 p.N375fs 0.992:0.934:1.000:1.000:0.992:0.996:0.999:1.000:1.000:1.000 "HMMSmart_TOPEUc,superfamily_DNA_brk_join_enz,HMMPfam_Topoisom_I" "superfamily_TopoI_DNA_bd_euk,HMMPfam_Topoisom_I_N,HMMSmart_TOPEUc,superfamily_DNA_brk_join_enz,HMMPfam_Topoisom_I,superfamily_Topismrse_insert,PatternScan_TOPOISOMERASE_I_EUK" "(deletion:cds_exon[144474746,144474931])" no_errors TUSC3 7991 hgsc.bcm.edu 36 8 15561505 15561505 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 15561505 15561505 T C SNP TUSC3 NM_006765 human genbank 54_36p 1 reviewed missense c.545 p.I182T 1 "HMMPfam_OST3_OST6,superfamily_Thioredoxin-like" "HMMPfam_OST3_OST6,superfamily_Thioredoxin-like" - no_errors UBR5 51366 hgsc.bcm.edu 36 8 103392901 103392901 + Splice_Site SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 103392901 103392901 C T SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed splice_site c.2419-1 e20-1 1 - - - no_errors UBR5 51366 hgsc.bcm.edu 36 8 103424040 103424040 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 103424040 103424040 T G SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed missense c.935 p.E312A 1 NULL "HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1,superfamily_HECT,superfamily_PABP_HYD,HMMPfam_PABP,HMMSmart_PolyA,HMMSmart_HECTc,HMMPfam_HECT" - no_errors UQCRB 7381 hgsc.bcm.edu 36 8 97316918 97316918 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 97316918 97316918 G C SNP UQCRB NM_006294 human genbank 54_36p -1 reviewed missense c.17 p.A6G 0 "HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase)" "HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase)" - no_errors VPS13B 157680 hgsc.bcm.edu 36 8 100935629 100935629 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 100935629 100935629 G T SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.10911 p.M3637I 1 NULL PatternScan_ZINC_PROTEASE - no_errors XPO7 23039 hgsc.bcm.edu 36 8 21912553 21912553 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 21912553 21912553 C T SNP XPO7 NM_001100161 human genbank 54_36p 1 validated missense c.2461 p.R821C 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N" - no_errors ZC3H3 23144 hgsc.bcm.edu 36 8 144661192 144661192 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 144661192 144661192 G A SNP ZC3H3 NM_015117 human genbank 54_36p -1 validated missense c.1582 p.R528W 0.01 NULL "superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors ZFHX4 79776 hgsc.bcm.edu 36 8 77780767 77780767 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 8 77780767 77780767 G T SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated missense c.1889 p.G630V 1 "HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZFHX4 79776 hgsc.bcm.edu 36 8 77929002 77929002 + Silent SNP A A G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 77929002 77929002 A G SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated silent c.7155 p.P2385 0 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZFP41 286128 hgsc.bcm.edu 36 8 144403826 144403826 + Silent SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 8 144403826 144403826 G A SNP ZFP41 NM_173832 human genbank 54_36p 1 provisional silent c.438 p.G146 0.01 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ABCA1 19 hgsc.bcm.edu 36 9 106616559 106616559 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 106616559 106616559 C T SNP ABCA1 NM_005502 human genbank 54_36p -1 reviewed missense c.3757 p.E1253K 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ACO1 48 hgsc.bcm.edu 36 9 32397428 32397428 + Splice_Site SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 32397428 32397428 G A SNP ACO1 NM_002197 human genbank 54_36p 1 reviewed splice_site c.266+1 e2+1 1 - - - no_errors ADAMTS13 11093 hgsc.bcm.edu 36 9 135299848 135299848 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 135299848 135299848 G C SNP ADAMTS13 NM_139025 human genbank 54_36p 1 reviewed missense c.2464 p.A822P 0 NULL "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Spermadhesin CUB domain" - no_errors ADAMTSL2 9719 hgsc.bcm.edu 36 9 135395654 135395655 + Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 135395654 135395655 - T INS ADAMTSL2 NM_014694 human genbank 54_36p 1 reviewed frame_shift_ins c.526_527 p.R177fs 1.000:1.000 NULL "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors AGTPBP1 23287 hgsc.bcm.edu 36 9 87447594 87447594 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 87447594 87447594 G T SNP AGTPBP1 NM_015239 human genbank 54_36p -1 validated missense c.1150 p.H384N 1 NULL "superfamily_ARM-type_fold,superfamily_SSF53187,HMMPfam_Peptidase_M14" - no_errors ANGPTL2 23452 hgsc.bcm.edu 36 9 128910160 128910160 + Silent SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 128910160 128910160 G A SNP ANGPTL2 NM_012098 human genbank 54_36p -1 reviewed silent c.672 p.V224 0.91 NULL "superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors APTX 54840 hgsc.bcm.edu 36 9 32978112 32978118 + Frame_Shift_Del DEL TCTGCTT TCTGCTT - novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 TCTGCTT TCTGCTT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 32978112 32978118 TCTGCTT - DEL APTX NM_175073 human genbank 54_36p -1 reviewed frame_shift_del c.149_143 p.K48fs 1.000:1.000:0.998:1.000:1.000:1.000:1.000 superfamily_SMAD/FHA domain "superfamily_SMAD/FHA domain,superfamily_HIT-like,HMMPfam_HIT,PatternScan_HIT_1,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[32978081,32978127])" no_errors AQP3 360 hgsc.bcm.edu 36 9 33432355 33432356 + Frame_Shift_Ins INS - - A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 33432355 33432356 - A INS AQP3 NM_004925 human genbank 54_36p -1 reviewed frame_shift_ins c.654_653 p.D219fs 0.995:1.000 "HMMPfam_MIP,superfamily_Aquaporin-like" "HMMPfam_MIP,superfamily_Aquaporin-like,PatternScan_MIP" - no_errors AQP7 364 hgsc.bcm.edu 36 9 33376989 33376989 + Silent SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 33376989 33376989 C G SNP AQP7 NM_001170 human genbank 54_36p -1 reviewed silent c.246 p.V82 0 "HMMPfam_MIP,superfamily_MIP" "PatternScan_MIP,HMMPfam_MIP,superfamily_MIP" - no_errors ASTN2 23245 hgsc.bcm.edu 36 9 118778859 118778859 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 118778859 118778859 C T SNP ASTN2 NM_198187 human genbank 54_36p -1 validated missense c.1618 p.A540T 0.99 NULL "superfamily_EGF/Laminin,HMMSmart_SM00457,superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors BAT2L1 84726 hgsc.bcm.edu 36 9 133348587 133348587 + Silent SNP A A T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 133348587 133348587 A T SNP BAT2L NM_013318 human genbank 54_36p 1 validated silent c.5394 p.P1798 0.15 NULL HMMPfam_BAT2_N - no_errors SCAI 286205 hgsc.bcm.edu 36 9 126858003 126858003 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 126858003 126858003 T A SNP C9orf126 NM_173690 human genbank 54_36p -1 validated missense c.272 p.K91I 1 NULL NULL - no_errors C9orf3 84909 hgsc.bcm.edu 36 9 96562314 96562314 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 96562314 96562314 T C SNP C9orf3 NM_032823 human genbank 54_36p 1 provisional missense c.428 p.L143S 1 superfamily_SSF63737 "superfamily_SSF63737,superfamily_SSF55486,superfamily_ARM-type_fold,HMMPfam_Leuk-A4-hydro_C" - no_errors C9orf30 91283 hgsc.bcm.edu 36 9 102252719 102252719 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 102252719 102252719 C A SNP C9orf30 NM_080655 human genbank 54_36p 1 predicted missense c.478 p.P160T 1 NULL NULL - no_errors C9orf50 375759 hgsc.bcm.edu 36 9 131415664 131415664 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 131415664 131415664 G C SNP C9orf50 NM_199350 human genbank 54_36p -1 validated missense c.914 p.A305G 0 NULL NULL - no_errors C9orf72 203228 hgsc.bcm.edu 36 9 27546634 27546634 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 27546634 27546634 A G SNP C9orf72 NM_018325 human genbank 54_36p -1 validated missense c.1016 p.F339S 1 NULL NULL - no_errors C9orf72 203228 hgsc.bcm.edu 36 9 27548578 27548578 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 27548578 27548578 T C SNP C9orf72 NM_018325 human genbank 54_36p -1 validated missense c.766 p.T256A 1 NULL NULL - no_errors C9orf96 169436 hgsc.bcm.edu 36 9 135255432 135255433 + Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 135255432 135255433 - C INS C9orf96 NM_153710 human genbank 54_36p 1 validated frame_shift_ins c.1152_1153 p.V384fs 0.002:0.001 superfamily_ARM repeat "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_ARM repeat" - no_errors C9orf96 169436 hgsc.bcm.edu 36 9 135255456 135255456 + Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 135255456 135255456 G - DEL C9orf96 NM_153710 human genbank 54_36p 1 validated frame_shift_del c.1176 p.L393fs 0.99 superfamily_ARM repeat "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,HMMPfam_Pkinase" "(deletion:cds_exon[135255362,135255478])" no_errors CA9 768 hgsc.bcm.edu 36 9 35669874 35669874 + Silent SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 35669874 35669874 G A SNP CA9 NM_001216 human genbank 54_36p 1 reviewed silent c.1089 p.L363 0.89 "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase" "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors CD274 29126 hgsc.bcm.edu 36 9 5452907 5452907 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 5452907 5452907 G T SNP CD274 NM_014143 human genbank 54_36p 1 provisional missense c.468 p.Q156H 1 "superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_C2-set_2" - no_errors CENPP 401541 hgsc.bcm.edu 36 9 94181964 94181964 + Splice_Site SNP T T A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 94181964 94181964 T A SNP CENPP NM_001012267 human genbank 54_36p 1 validated splice_site c.564+2 e5+2 1 - - - no_errors CIZ1 25792 hgsc.bcm.edu 36 9 129980896 129980896 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 129980896 129980896 C T SNP CIZ1 NM_012127 human genbank 54_36p -1 validated missense c.1411 p.V471M 0 NULL "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CIZ1 25792 hgsc.bcm.edu 36 9 129982566 129982566 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 129982566 129982566 G C SNP CIZ1 NM_012127 human genbank 54_36p -1 validated missense c.740 p.P247R 0.05 NULL "HMMSmart_ZnF_U1,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors CIZ1 25792 hgsc.bcm.edu 36 9 129987678 129987678 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 129987678 129987678 C T SNP CIZ1 NM_012127 human genbank 54_36p -1 validated missense c.557 p.R186Q 0.07 NULL "HMMSmart_ZnF_U1,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors CNTFR 1271 hgsc.bcm.edu 36 9 34546274 34546274 + Silent SNP G G T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 34546274 34546274 G T SNP CNTFR NM_001842 human genbank 54_36p -1 reviewed silent c.747 p.L249 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3" - no_errors CORO2A 7464 hgsc.bcm.edu 36 9 99928679 99928679 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 99928679 99928679 T A SNP CORO2A NM_003389 human genbank 54_36p -1 reviewed missense c.1419 p.E473D 1 NULL "HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900,PatternScan_GLNA_1" - no_errors CTSL3 392360 hgsc.bcm.edu 36 9 89578282 89578282 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 89578282 89578282 A G SNP CTSL3 NM_001023564 human genbank 54_36p 1 validated missense c.328 p.M110V 1 NULL "HMMPfam_Inhibitor_I29,superfamily_Cysteine proteinases,HMMPfam_Peptidase_C1" - no_errors DBC1 1620 hgsc.bcm.edu 36 9 120970127 120970127 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 120970127 120970127 C T SNP DBC1 NM_014618 human genbank 54_36p -1 validated missense c.1342 p.G448S 1 NULL HMMSmart_SM00457 - no_errors DBH 1621 hgsc.bcm.edu 36 9 135497212 135497212 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 135497212 135497212 C G SNP DBH NM_000787 human genbank 54_36p 1 reviewed missense c.549 p.I183M 1 HMMSmart_DoH "HMMSmart_DoH,HMMPfam_DOMON,superfamily_PHM_PNGase_F,HMMPfam_Cu2_monooxygen,PatternScan_CU2_MONOOXYGENASE_1,HMMPfam_Cu2_monoox_C,PatternScan_CU2_MONOOXYGENASE_2" - no_errors DENND1A 57706 hgsc.bcm.edu 36 9 125185836 125185836 + Silent SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 125185836 125185836 C T SNP DENND1A NM_020946 human genbank 54_36p -1 validated silent c.1755 p.Q585 0.99 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801" - no_errors DENND1A 57706 hgsc.bcm.edu 36 9 125432577 125432577 + Splice_Site SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 125432577 125432577 C G SNP DENND1A NM_020946 human genbank 54_36p -1 validated splice_site c.619-1 e10-1 1 - - - no_errors ECM2 1842 hgsc.bcm.edu 36 9 94316893 94316893 + Nonsense_Mutation SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 94316893 94316893 G A SNP ECM2 NM_001393 human genbank 54_36p -1 reviewed nonsense c.895 p.R299* 0.58 superfamily_SSF52058 "HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_SSF52058,HMMPfam_LRR_1" - no_errors ELAVL2 1993 hgsc.bcm.edu 36 9 23682568 23682568 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 23682568 23682568 G A SNP ELAVL2 NM_004432 human genbank 54_36p -1 validated missense c.1067 p.T356M 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors FAM102A 399665 hgsc.bcm.edu 36 9 129755943 129755943 + Silent SNP G G A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 129755943 129755943 G A SNP FAM102A NM_001035254 human genbank 54_36p -1 validated silent c.229 p.L77 1 HMMPfam_Eeig1 HMMPfam_Eeig1 - no_errors FAM78A 286336 hgsc.bcm.edu 36 9 133126386 133126386 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 133126386 133126386 C T SNP FAM78A NM_033387 human genbank 54_36p -1 validated missense c.496 p.V166I 1 NULL NULL - no_errors FBXW2 26190 hgsc.bcm.edu 36 9 122578230 122578230 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 122578230 122578230 G C SNP FBXW2 NM_012164 human genbank 54_36p -1 reviewed missense c.781 p.L261V 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FGD3 619477 hgsc.bcm.edu 36 9 94805063 94805063 + Silent SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 94805063 94805063 G A SNP FGD3 NM_001083536 human genbank 54_36p 1 validated silent c.489 p.Q163 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE" - no_errors FRMPD1 22844 hgsc.bcm.edu 36 9 37735493 37735494 + Frame_Shift_Del DEL GT GT - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 GT GT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 37735493 37735494 GT - DEL FRMPD1 NM_014907 human genbank 54_36p 1 provisional frame_shift_del c.3464_3465 p.G1155fs 0.009:0.005 NULL "PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" "(deletion:cds_exon[37734386,37736766])" no_errors GABBR2 9568 hgsc.bcm.edu 36 9 100256286 100256288 + In_Frame_Del DEL TTG TTG - novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 TTG TTG TTG - TTG TTG Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 100256286 100256288 TTG - DEL GABBR2 NM_005458 human genbank 54_36p -1 validated in_frame_del c.1034_1032 p.N344in_frame_del 1.000:1.000:0.996 "superfamily_SSF53822,HMMPfam_ANF_receptor" "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" "(deletion:cds_exon[100256084,100256320])" no_errors GAPVD1 26130 hgsc.bcm.edu 36 9 127143323 127143323 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 127143323 127143323 G T SNP GAPVD1 NM_015635 human genbank 54_36p 1 validated missense c.3005 p.R1002I 1 NULL "superfamily_Rho_GAP,HMMPfam_RasGAP,superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9" - no_errors GDA 9615 hgsc.bcm.edu 36 9 74030472 74030472 + Silent SNP T T C novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 74030472 74030472 T C SNP GDA NM_004293 human genbank 54_36p 1 validated silent c.774 p.Y258 1 "HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases" "HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases" - no_errors GLT6D1 360203 hgsc.bcm.edu 36 9 137655932 137655932 + Silent SNP T T C novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 137655932 137655932 T C SNP GLT6D1 NM_182974 human genbank 54_36p -1 provisional silent c.663 p.G221 0 "HMMPfam_Glyco_transf_6,superfamily_SSF53448" "HMMPfam_Glyco_transf_6,superfamily_SSF53448" - no_errors GNAQ 2776 hgsc.bcm.edu 36 9 79533394 79533394 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 79533394 79533394 C T SNP GNAQ NM_002072 human genbank 54_36p -1 provisional missense c.745 p.E249K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" - no_errors GOLGA1 2800 hgsc.bcm.edu 36 9 126684035 126684035 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 126684035 126684035 T C SNP GOLGA1 NM_002077 human genbank 54_36p -1 reviewed missense c.1985 p.E662G 0.9 NULL "superfamily_Prefoldin,HMMPfam_GRIP,HMMSmart_SM00755" - no_errors GRIN3A 116443 hgsc.bcm.edu 36 9 103415524 103415524 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 103415524 103415524 C A SNP GRIN3A NM_133445 human genbank 54_36p -1 reviewed missense c.2721 p.W907C 1 "superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan" "superfamily_SSF53822,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMSmart_PBPe,HMMPfam_Lig_chan" - no_errors GRIN3A 116443 hgsc.bcm.edu 36 9 103489243 103489243 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 103489243 103489243 C T SNP GRIN3A NM_133445 human genbank 54_36p -1 reviewed missense c.760 p.V254I 1 superfamily_SSF53822 "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850" - no_errors GSN 2934 hgsc.bcm.edu 36 9 123134620 123134620 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 123134620 123134620 T C SNP GSN NM_000177 human genbank 54_36p 1 reviewed missense c.2267 p.F756S 1 "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin" "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin" - no_errors HINT2 84681 hgsc.bcm.edu 36 9 35803088 35803088 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 35803088 35803088 A T SNP HINT2 NM_032593 human genbank 54_36p -1 validated missense c.455 p.V152E 1 "superfamily_HIT-like,HMMPfam_HIT,PatternScan_HIT_1" "superfamily_HIT-like,HMMPfam_HIT,PatternScan_HIT_1" - no_errors IFNA8 3445 hgsc.bcm.edu 36 9 21399495 21399496 + Frame_Shift_Del DEL AA AA - novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 21399495 21399496 AA - DEL IFNA8 NM_002170 human genbank 54_36p 1 validated frame_shift_del c.320_321 p.E107fs 0.000:0.000 "HMMPfam_Interferon,superfamily_4-helical cytokines,HMMSmart_SM00076" "HMMPfam_Interferon,superfamily_4-helical cytokines,HMMSmart_SM00076,PatternScan_INTERFERON_A_B_D" "(deletion:cds_exon[21399176,21399745])" no_errors INVS 27130 hgsc.bcm.edu 36 9 102055116 102055116 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 102055116 102055116 C G SNP INVS NM_014425 human genbank 54_36p 1 reviewed missense c.1341 p.I447M 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00015,HMMPfam_IQ" - no_errors JAK2 3717 hgsc.bcm.edu 36 9 5062586 5062586 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 5062586 5062586 T C SNP JAK2 NM_004972 human genbank 54_36p 1 reviewed missense c.1736 p.L579P 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors KANK1 23189 hgsc.bcm.edu 36 9 728303 728303 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 728303 728303 C A SNP KANK1 NM_015158 human genbank 54_36p 1 reviewed missense c.3352 p.L1118I 1 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors C9orf174 100499483 hgsc.bcm.edu 36 9 99111666 99111666 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 99111666 99111666 C A SNP KIAA1529 NM_020893 human genbank 54_36p 1 predicted missense c.768 p.S256R 0.68 NULL NULL - no_errors C9orf174 100499483 hgsc.bcm.edu 36 9 99119271 99119271 + Nonsense_Mutation SNP G G A novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 99119271 99119271 G A SNP KIAA1529 NM_020893 human genbank 54_36p 1 predicted nonsense c.1448 p.W483* 1 NULL NULL - no_errors KIAA1797 54914 hgsc.bcm.edu 36 9 20897201 20897201 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 20897201 20897201 G T SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated missense c.2678 p.W893L 1 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA2026 158358 hgsc.bcm.edu 36 9 5913031 5913031 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 5913031 5913031 C A SNP KIAA2026 NM_001017969 human genbank 54_36p -1 validated missense c.2965 p.A989S 0.97 NULL superfamily_Bromodomain - no_errors KLHL9 55958 hgsc.bcm.edu 36 9 21323640 21323640 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 21323640 21323640 G A SNP KLHL9 NM_018847 human genbank 54_36p -1 validated missense c.1219 p.R407C 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors LRSAM1 90678 hgsc.bcm.edu 36 9 129269902 129269902 + Silent SNP T T G novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 129269902 129269902 T G SNP LRSAM1 NM_001005373 human genbank 54_36p 1 validated silent c.591 p.T197 0.9 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,superfamily_RING/U-box" - no_errors LRSAM1 90678 hgsc.bcm.edu 36 9 129269902 129269902 + Silent SNP T T G novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 129269902 129269902 T G SNP LRSAM1 NM_001005373 human genbank 54_36p 1 validated silent c.591 p.T197 0.9 superfamily_L domain-like "HMMPfam_LRR_1,HMMSmart_SM00454,HMMSmart_SM00369,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMSmart_SM00364,superfamily_L domain-like,superfamily_RING/U-box" - no_errors MAN1B1 11253 hgsc.bcm.edu 36 9 139122816 139122816 + Silent SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 139122816 139122816 C T SNP MAN1B1 NM_016219 human genbank 54_36p 1 validated silent c.2052 p.Y684 0.18 "superfamily_Glyco_hydro_47,HMMPfam_Glyco_hydro_47" "superfamily_Glyco_hydro_47,HMMPfam_Glyco_hydro_47" - no_errors METTL11A 28989 hgsc.bcm.edu 36 9 131434886 131434886 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 131434886 131434886 A - DEL METTL11A NM_014064 human genbank 54_36p 1 validated frame_shift_del c.83 p.D28fs 1 "HMMPfam_DUF858,superfamily_SSF53335" "HMMPfam_DUF858,superfamily_SSF53335" "(deletion:cds_exon[131434804,131434965])" no_errors MURC 347273 hgsc.bcm.edu 36 9 102388359 102388359 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 102388359 102388359 C G SNP MURC NM_001018116 human genbank 54_36p 1 validated missense c.900 p.S300R 0 NULL NULL - no_errors MUSK 4593 hgsc.bcm.edu 36 9 112499564 112499564 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 112499564 112499564 G C SNP MUSK NM_005592 human genbank 54_36p 1 validated missense c.625 p.E209Q 1 "HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors NANS 54187 hgsc.bcm.edu 36 9 99885039 99885039 + Frame_Shift_Del DEL G G - novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 99885039 99885039 G - DEL NANS NM_018946 human genbank 54_36p 1 reviewed frame_shift_del c.961 p.G321fs 1 "superfamily_AFP III-like domain (Pfam 01354),HMMPfam_SAF" "superfamily_Aldolase,HMMPfam_NeuB,superfamily_AFP III-like domain (Pfam 01354),HMMPfam_SAF" "(deletion:cds_exon[99884949,99885158])" no_errors NFX1 4799 hgsc.bcm.edu 36 9 33303762 33303762 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 33303762 33303762 G A SNP NFX1 NM_002504 human genbank 54_36p 1 reviewed missense c.1559 p.C520Y 1 "HMMPfam_zf-NF-X1,HMMSmart_SM00438" "superfamily_RING/U-box,HMMSmart_SM00184,PatternScan_ZF_PHD_1,HMMPfam_zf-C3HC4,HMMPfam_zf-NF-X1,HMMSmart_SM00438,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H" - no_errors NOL8 55035 hgsc.bcm.edu 36 9 94117487 94117487 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 94117487 94117487 T G SNP NOL8 NM_017948 human genbank 54_36p -1 validated missense c.1241 p.N414T 0 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors NOTCH1 4851 hgsc.bcm.edu 36 9 138510763 138510763 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 138510763 138510763 G C SNP NOTCH1 NM_017617 human genbank 54_36p -1 reviewed missense c.7249 p.P2417A 0.61 NULL ############################################################################################################################################################################################################################################################### - no_errors NUP188 23511 hgsc.bcm.edu 36 9 130785399 130785399 + Silent SNP G G A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 130785399 130785399 G A SNP NUP188 NM_015354 human genbank 54_36p 1 validated silent c.1803 p.T601 0.63 HMMPfam_Nup188 HMMPfam_Nup188 - no_errors OLFM1 10439 hgsc.bcm.edu 36 9 137151792 137151792 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 137151792 137151792 C A SNP OLFM1 NM_014279 human genbank 54_36p 1 validated missense c.1351 p.Q451K 1 "HMMPfam_OLF,HMMSmart_OLF" "HMMPfam_OLF,HMMSmart_OLF,PatternScan_ER_TARGET" - no_errors OLFML2A 169611 hgsc.bcm.edu 36 9 126597135 126597135 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 126597135 126597135 G A SNP OLFML2A NM_182487 human genbank 54_36p 1 validated missense c.366 p.M122I 1 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors PALM2-AKAP2 445815 hgsc.bcm.edu 36 9 111939566 111939566 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture SOLID SOLID 9 111939566 111939566 G A SNP PALM2-AKAP2 NM_007203 human genbank 54_36p 1 validated missense c.1921 p.A641T 0.03 NULL HMMPfam_RII_binding_1 - no_errors PAPPA 5069 hgsc.bcm.edu 36 9 117990026 117990026 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 117990026 117990026 C A SNP PAPPA NM_002581 human genbank 54_36p 1 reviewed missense c.1188 p.D396E 1 superfamily_SSF55486 "superfamily_ConA_like_lec_gl,HMMSmart_LamGL,superfamily_SSF55486,HMMPfam_Notch,HMMSmart_NL,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M43,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors PAPPA 5069 hgsc.bcm.edu 36 9 118133454 118133454 + Silent SNP C C A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 118133454 118133454 C A SNP PAPPA NM_002581 human genbank 54_36p 1 reviewed silent c.3258 p.L1086 1 superfamily_SSF55486 "HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_Notch,HMMSmart_NL,PatternScan_ZINC_PROTEASE,HMMSmart_LamGL,HMMPfam_Peptidase_M43,superfamily_ConA_like_lec_gl,superfamily_Complement_control_module,superfamily_SSF55486" - no_errors PHF19 26147 hgsc.bcm.edu 36 9 122663242 122663242 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 122663242 122663242 T C SNP PHF19 NM_015651 human genbank 54_36p -1 validated missense c.1250 p.H417R 1 NULL "HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors PHF19 26147 hgsc.bcm.edu 36 9 122672620 122672620 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 122672620 122672620 C T SNP PHF19 NM_015651 human genbank 54_36p -1 validated missense c.286 p.E96K 1 superfamily_FYVE/PHD zinc finger "HMMSmart_SM00249,HMMSmart_SM00333,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Tudor/PWWP/MBT" - no_errors PIGO 84720 hgsc.bcm.edu 36 9 35081522 35081523 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 35081522 35081523 - G INS PIGO NM_032634 human genbank 54_36p -1 reviewed frame_shift_ins c.2362_2361 p.T787fs 0.995:0.987 NULL "superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest" - no_errors PPP2R4 5524 hgsc.bcm.edu 36 9 130931116 130931116 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 130931116 130931116 C T SNP PPP2R4 NM_178001 human genbank 54_36p 1 reviewed missense c.353 p.T118M 1 HMMPfam_PTPA HMMPfam_PTPA - no_errors PPP3R2 5535 hgsc.bcm.edu 36 9 103396769 103396769 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 103396769 103396769 C A SNP PPP3R2 NM_147180 human genbank 54_36p -1 provisional missense c.265 p.G89C 1 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand" - no_errors PRPF4 9128 hgsc.bcm.edu 36 9 115084769 115084769 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 115084769 115084769 G A SNP PRPF4 NM_004697 human genbank 54_36p 1 provisional missense c.418 p.V140I 1 "HMMSmart_SM00500,superfamily_WD40 repeat-like" "HMMSmart_SM00500,HMMPfam_PRP4,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_PEROXIDASE_2,PatternScan_WD_REPEATS_1" - no_errors PRSS3 5646 hgsc.bcm.edu 36 9 33789033 33789033 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 33789033 33789033 C T SNP PRSS3 NM_002771 human genbank 54_36p 1 reviewed missense c.599 p.S200F 1 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" - no_errors PTCH1 5727 hgsc.bcm.edu 36 9 97279757 97279757 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 97279757 97279757 G C SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.1396 p.Q466E 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors PTPDC1 138639 hgsc.bcm.edu 36 9 95899489 95899489 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 95899489 95899489 G C SNP PTPDC1 NM_152422 human genbank 54_36p 1 reviewed missense c.814 p.V272L 1 "superfamily_SSF52799,HMMPfam_DSPc" "superfamily_SSF52799,HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPDC1 138639 hgsc.bcm.edu 36 9 95903839 95903839 + Silent SNP T T A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 95903839 95903839 T A SNP PTPDC1 NM_152422 human genbank 54_36p 1 reviewed silent c.2178 p.L726 0.21 NULL "HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799" - no_errors PTPN3 5774 hgsc.bcm.edu 36 9 111184496 111184496 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 111184496 111184496 T A SNP PTPN3 NM_002829 human genbank 54_36p -1 reviewed missense c.2435 p.H812L 1 "superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPN3 5774 hgsc.bcm.edu 36 9 111184498 111184498 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 111184498 111184498 G T SNP PTPN3 NM_002829 human genbank 54_36p -1 reviewed missense c.2433 p.D811E 1 "HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799" ############################################################################################################################################################################################################################################################### - no_errors PTPRD 5789 hgsc.bcm.edu 36 9 8461015 8461015 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 8461015 8461015 C T SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed missense c.3484 p.D1162N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors QSOX2 169714 hgsc.bcm.edu 36 9 138253546 138253547 + Frame_Shift_Del DEL TT TT - novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 TT TT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 138253546 138253547 TT - DEL QSOX2 NM_181701 human genbank 54_36p -1 validated frame_shift_del c.738_737 p.K246fs 0.001:0.001 NULL "superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,superfamily_Evr1_Alr,HMMPfam_Evr1_Alr" "(deletion:cds_exon[138253463,138253608])" no_errors RALGPS1 9649 hgsc.bcm.edu 36 9 128997191 128997191 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 128997191 128997191 G T SNP RALGPS1 NM_014636 human genbank 54_36p 1 provisional missense c.911 p.G304V 1 superfamily_Ras GEF "superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors RANBP6 26953 hgsc.bcm.edu 36 9 6004121 6004123 + In_Frame_Del DEL TTT TTT - novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 TTT TTT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 6004121 6004123 TTT - DEL RANBP6 NM_012416 human genbank 54_36p -1 validated in_frame_del c.1487_1485 p.K495in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_HEAT" "(deletion:cds_exon[6002290,6005607])" no_errors RAPGEF1 2889 hgsc.bcm.edu 36 9 133449611 133449611 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T C T T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 133449611 133449611 T C SNP RAPGEF1 NM_198679 human genbank 54_36p -1 reviewed missense c.2818 p.K940E 1 "superfamily_Ras_GEF,HMMSmart_RasGEF,HMMPfam_RasGEF" "superfamily_Ras_GEF,HMMSmart_RasGEFN,HMMPfam_RasGEF_N,HMMSmart_RasGEF,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors ROR2 4920 hgsc.bcm.edu 36 9 93526081 93526081 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 93526081 93526081 G A SNP ROR2 NM_004560 human genbank 54_36p -1 reviewed missense c.2516 p.P839L 0.95 NULL "PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR" - no_errors RORB 6096 hgsc.bcm.edu 36 9 76476542 76476542 + Nonsense_Mutation SNP G G T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 76476542 76476542 G T SNP RORB NM_006914 human genbank 54_36p 1 reviewed nonsense c.1129 p.E377* 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors RUSC2 9853 hgsc.bcm.edu 36 9 35546372 35546372 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 35546372 35546372 G T SNP RUSC2 NM_014806 human genbank 54_36p 1 validated missense c.2910 p.K970N 1 NULL "HMMPfam_RUN,HMMSmart_SM00593,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors RXRA 6256 hgsc.bcm.edu 36 9 136453473 136453473 + Splice_Site SNP G G T novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 136453473 136453473 G T SNP RXRA NM_002957 human genbank 54_36p 1 reviewed splice_site c.910+1 e6+1 1 - - - no_errors SECISBP2 79048 hgsc.bcm.edu 36 9 91137694 91137694 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 91137694 91137694 G A SNP SECISBP2 NM_024077 human genbank 54_36p 1 reviewed missense c.853 p.A285T 0 NULL "superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae" - no_errors SLC2A8 29988 hgsc.bcm.edu 36 9 129202018 129202018 + Silent SNP C C G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 129202018 129202018 C G SNP SLC2A8 NM_014580 human genbank 54_36p 1 provisional silent c.438 p.S146 0.94 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2" - no_errors SMARCA2 6595 hgsc.bcm.edu 36 9 2029514 2029514 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 2029514 2029514 C A SNP SMARCA2 NM_003070 human genbank 54_36p 1 reviewed missense c.404 p.S135Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SMARCA2 6595 hgsc.bcm.edu 36 9 2044620 2044620 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 2044620 2044620 G T SNP SMARCA2 NM_003070 human genbank 54_36p 1 reviewed missense c.1070 p.R357M 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SMC2 10592 hgsc.bcm.edu 36 9 105915480 105915480 + Silent SNP G G A novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 105915480 105915480 G A SNP SMC2 NM_001042550 human genbank 54_36p 1 validated silent c.1317 p.K439 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Smc hinge domain,HMMPfam_SMC_hinge,PatternScan_ABC_TRANSPORTER_1" - no_errors SMC2 10592 hgsc.bcm.edu 36 9 105927201 105927201 + Missense_Mutation SNP A A C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 105927201 105927201 A C SNP SMC2 NM_001042550 human genbank 54_36p 1 validated missense c.2445 p.K815N 1 "HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SPAG8 26206 hgsc.bcm.edu 36 9 35801022 35801022 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 35801022 35801022 G T SNP SPAG8 NM_172312 human genbank 54_36p -1 reviewed missense c.897 p.S299R 0.57 NULL NULL - no_errors SVEP1 79987 hgsc.bcm.edu 36 9 112209360 112209360 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 112209360 112209360 C T SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.8341 p.V2781I 0 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" ############################################################################################################################################################################################################################################################### - no_errors SVEP1 79987 hgsc.bcm.edu 36 9 112252237 112252237 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 112252237 112252237 A C SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.4026 p.C1342W 1 "HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors SVEP1 79987 hgsc.bcm.edu 36 9 112281803 112281803 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 112281803 112281803 G C SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.2420 p.A807G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors TDRD7 23424 hgsc.bcm.edu 36 9 99230677 99230677 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 99230677 99230677 G C SNP TDRD7 NM_014290 human genbank 54_36p 1 validated missense c.109 p.D37H 1 NULL "HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR" - no_errors TEK 7010 hgsc.bcm.edu 36 9 27159607 27159607 + Missense_Mutation SNP T T A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 27159607 27159607 T A SNP TEK NM_000459 human genbank 54_36p 1 reviewed missense c.608 p.F203Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors TEX10 54881 hgsc.bcm.edu 36 9 102122463 102122463 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 102122463 102122463 G C SNP TEX10 NM_017746 human genbank 54_36p -1 provisional missense c.2107 p.R703G 0.96 NULL "superfamily_ARM-type_fold,HMMPfam_HEAT" - no_errors TMEM8B 51754 hgsc.bcm.edu 36 9 35832574 35832574 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 35832574 35832574 G A SNP C9orf127 NM_001042589 human genbank 54_36p 1 provisional missense c.139 p.D47N 1 NULL "PatternScan_EGF_1,PatternScan_EGF_2" - no_errors TRAF1 7185 hgsc.bcm.edu 36 9 122711475 122711476 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 122711475 122711476 - G INS TRAF1 NM_005658 human genbank 54_36p -1 reviewed frame_shift_ins c.886_885 p.F295fs 1.000:0.968 "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors TRAF1 7185 hgsc.bcm.edu 36 9 122713525 122713525 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 122713525 122713525 A C SNP TRAF1 NM_005658 human genbank 54_36p -1 reviewed missense c.793 p.F265V 1 superfamily_TRAF domain-like "HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like" - no_errors TRPM3 80036 hgsc.bcm.edu 36 9 72667830 72667830 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 72667830 72667830 C - DEL TRPM3 NM_001007471 human genbank 54_36p -1 reviewed frame_shift_del c.276 p.I93fs 0.69 NULL HMMPfam_Ion_trans "(deletion:cds_exon[72667644,72667848])" no_errors UBAP2 55833 hgsc.bcm.edu 36 9 33917935 33917935 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 33917935 33917935 G C SNP UBAP2 NM_018449 human genbank 54_36p -1 reviewed missense c.2231 p.A744G 0.21 NULL "HMMPfam_UBA,HMMSmart_UBA" - no_errors VLDLR 7436 hgsc.bcm.edu 36 9 2631485 2631485 + Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 9 2631485 2631485 A C SNP VLDLR NM_003383 human genbank 54_36p 1 validated missense c.434 p.D145A 1 "superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" ############################################################################################################################################################################################################################################################### - no_errors VPS13A 23230 hgsc.bcm.edu 36 9 79119353 79119353 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 79119353 79119353 C G SNP VPS13A NM_033305 human genbank 54_36p 1 reviewed missense c.4365 p.N1455K 1 NULL HMMPfam_DUF1162 - no_errors ZBTB5 9925 hgsc.bcm.edu 36 9 37432044 37432044 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 37432044 37432044 C T SNP ZBTB5 NM_014872 human genbank 54_36p -1 validated missense c.505 p.A169T 0.02 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZDHHC12 84885 hgsc.bcm.edu 36 9 130523446 130523447 + Frame_Shift_Del DEL TT TT - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 TT TT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 130523446 130523447 TT - DEL ZDHHC12 NM_032799 human genbank 54_36p -1 validated frame_shift_del c.639_638 p.E213fs 1.000:1.000 NULL HMMPfam_zf-DHHC "(deletion:cds_exon[130523281,130523602])" no_errors ZER1 10444 hgsc.bcm.edu 36 9 130555993 130555993 + Silent SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 9 130555993 130555993 C T SNP ZER1 NM_006336 human genbank 54_36p -1 provisional silent c.225 p.S75 0.05 NULL "superfamily_SSF52047,superfamily_ARM-type_fold" - no_errors ZNF462 58499 hgsc.bcm.edu 36 9 108726962 108726962 + Silent SNP C C T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 9 108726962 108726962 C T SNP ZNF462 NM_021224 human genbank 54_36p 1 validated silent c.948 p.T316 0.16 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24" - no_errors ABCC2 1244 hgsc.bcm.edu 36 10 101568631 101568631 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 101568631 101568631 C G SNP ABCC2 NM_000392 human genbank 54_36p 1 reviewed missense c.2366 p.S789C 0.99 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ACTR1A 10121 hgsc.bcm.edu 36 10 104230888 104230888 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 104230888 104230888 G C SNP ACTR1A NM_005736 human genbank 54_36p -1 reviewed missense c.1019 p.T340R 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors ADAM8 101 hgsc.bcm.edu 36 10 134926668 134926669 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 134926668 134926669 - T INS ADAM8 NM_001109 human genbank 54_36p -1 reviewed frame_shift_ins c.2457_2456 p.L820fs 0.002:0.000 NULL ############################################################################################################################################################################################################################################################### - no_errors ADAMTS14 140766 hgsc.bcm.edu 36 10 72159929 72159929 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 72159929 72159929 C A SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.1020 p.H340Q 0.94 "superfamily_SSF55486,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS14 140766 hgsc.bcm.edu 36 10 72170814 72170814 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 72170814 72170814 A T SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.1823 p.E608V 1 "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1" "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_SSF55486" - no_errors ADAMTS14 140766 hgsc.bcm.edu 36 10 72190319 72190319 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 72190319 72190319 G T SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.3385 p.D1129Y 0 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_SSF55486" - no_errors AKR1C4 1109 hgsc.bcm.edu 36 10 5237796 5237796 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 5237796 5237796 A C SNP AKR1C4 NM_001818 human genbank 54_36p 1 reviewed missense c.446 p.E149A 1 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors ALOX5 240 hgsc.bcm.edu 36 10 45211372 45211372 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 45211372 45211372 C G SNP ALOX5 NM_000698 human genbank 54_36p 1 reviewed missense c.413 p.T138R 0.99 "superfamily_Lipoxygenase,HMMPfam_Lipoxygenase" "superfamily_Lipase_LipOase,HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2" - no_errors ANK3 288 hgsc.bcm.edu 36 10 61517940 61517940 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 61517940 61517940 G C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.3511 p.L1171V 0.99 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors ANXA11 311 hgsc.bcm.edu 36 10 81920585 81920585 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 81920585 81920585 T A SNP ANXA11 NM_001157 human genbank 54_36p -1 reviewed missense c.122 p.N41I 1 NULL "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors ANXA11 311 hgsc.bcm.edu 36 10 81920593 81920593 + Silent SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 81920593 81920593 C A SNP ANXA11 NM_001157 human genbank 54_36p -1 reviewed silent c.114 p.G38 1 NULL "superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335" - no_errors ANXA7 310 hgsc.bcm.edu 36 10 74808687 74808687 + Silent SNP G G A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 74808687 74808687 G A SNP ANXA7 NM_004034 human genbank 54_36p -1 reviewed silent c.1332 p.V444 1 "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors ARMC4 55130 hgsc.bcm.edu 36 10 28141527 28141527 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 28141527 28141527 C A SNP ARMC4 NM_018076 human genbank 54_36p -1 validated missense c.3055 p.D1019Y 0.52 "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors ARMC4 55130 hgsc.bcm.edu 36 10 28323962 28323962 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 28323962 28323962 T G SNP ARMC4 NM_018076 human genbank 54_36p -1 validated missense c.116 p.E39A 0.94 NULL "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors ARMS2 387715 hgsc.bcm.edu 36 10 124204248 124204248 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 124204248 124204248 C A SNP ARMS2 NM_001099667 human genbank 54_36p 1 reviewed nonsense c.15 p.Y5* 0 NULL NULL - no_errors ATRNL1 26033 hgsc.bcm.edu 36 10 117049749 117049749 + Splice_Site SNP T T A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 117049749 117049749 T A SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated splice_site c.2629+2 e16+2 1 - - - no_errors BAMBI 25805 hgsc.bcm.edu 36 10 29011120 29011120 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 29011120 29011120 G C SNP BAMBI NM_012342 human genbank 54_36p 1 reviewed missense c.567 p.Q189H 1 NULL "HMMPfam_BAMBI,superfamily_SSF57302" - no_errors BCCIP 56647 hgsc.bcm.edu 36 10 127510015 127510015 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 127510015 127510015 C G SNP BCCIP NM_016567 human genbank 54_36p 1 reviewed missense c.448 p.L150V 0.98 NULL NULL - no_errors BICC1 80114 hgsc.bcm.edu 36 10 60219152 60219152 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 60219152 60219152 A C SNP BICC1 NM_001080512 human genbank 54_36p 1 provisional missense c.725 p.K242T 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain" - no_errors BMI1 648 hgsc.bcm.edu 36 10 22655470 22655470 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 22655470 22655470 C A SNP BMI1 NM_005180 human genbank 54_36p 1 provisional missense c.86 p.T29K 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors BTAF1 9044 hgsc.bcm.edu 36 10 93709811 93709811 + Silent SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 93709811 93709811 C T SNP BTAF1 NM_003972 human genbank 54_36p 1 validated silent c.1183 p.L395 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors C10orf113 387638 hgsc.bcm.edu 36 10 21454859 21454859 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 21454859 21454859 C T SNP C10orf113 NM_001010896 human genbank 54_36p -1 predicted missense c.337 p.G113R 1 NULL NULL - no_errors C10orf118 55088 hgsc.bcm.edu 36 10 115884793 115884793 + Silent SNP T T G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 115884793 115884793 T G SNP C10orf118 NM_018017 human genbank 54_36p -1 validated silent c.1524 p.L508 0.96 NULL superfamily_Prefoldin - no_errors C10orf12 26148 hgsc.bcm.edu 36 10 98732714 98732714 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 98732714 98732714 C A SNP C10orf12 NM_015652 human genbank 54_36p 1 predicted nonsense c.1577 p.S526* 0.01 NULL NULL - no_errors C10orf12 26148 hgsc.bcm.edu 36 10 98733842 98733845 + Frame_Shift_Del DEL CTGT CTGT - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 CTGT CTGT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 98733842 98733845 CTGT - DEL C10orf12 NM_015652 human genbank 54_36p 1 predicted frame_shift_del c.2705_2708 p.V903fs 0.995:0.996:0.997:0.998 NULL NULL "(deletion:cds_exon[98731138,98734881])" no_errors C10orf137 26098 hgsc.bcm.edu 36 10 127424275 127424275 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 127424275 127424275 C G SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.2498 p.S833C 0.19 NULL NULL - no_errors FAM196A 642938 hgsc.bcm.edu 36 10 128864305 128864305 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 128864305 128864305 G T SNP C10orf141 NM_001039762 human genbank 54_36p -1 validated nonsense c.345 p.Y115* 1 NULL NULL - no_errors C10orf71 118461 hgsc.bcm.edu 36 10 50202322 50202322 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 50202322 50202322 C A SNP C10orf71 NM_199459 human genbank 54_36p 1 validated missense c.1726 p.P576T 0.12 NULL NULL - no_errors FAM188A 80013 hgsc.bcm.edu 36 10 15916574 15916574 + Silent SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 15916574 15916574 C T SNP C10orf97 NM_024948 human genbank 54_36p -1 validated silent c.624 p.L208 1 NULL "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_EF-hand" - no_errors C1QL3 389941 hgsc.bcm.edu 36 10 16596660 16596660 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 16596660 16596660 C G SNP C1QL3 NM_001010908 human genbank 54_36p -1 validated missense c.641 p.S214T 1 "HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" "HMMPfam_Collagen,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" - no_errors CASP7 840 hgsc.bcm.edu 36 10 115479248 115479248 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 115479248 115479248 G T SNP CASP7 NM_033338 human genbank 54_36p 1 reviewed missense c.970 p.V324L 1 "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14" "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CCAR1 55749 hgsc.bcm.edu 36 10 70172280 70172280 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 70172280 70172280 A G SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.466 p.K156E 1 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand" - no_errors CDK1 983 hgsc.bcm.edu 36 10 62209967 62209967 + Splice_Site SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 62209967 62209967 G A SNP CDC2 NM_001786 human genbank 54_36p 1 reviewed splice_site c.37+1 e1+1 1 - - - no_errors CHST15 51363 hgsc.bcm.edu 36 10 125770782 125770784 + In_Frame_Del DEL TGT TGT - novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 TGT TGT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 125770782 125770784 TGT - DEL GALNAC4S-6ST NM_015892 human genbank 54_36p -1 validated in_frame_del c.1327_1325 p.N442in_frame_del 1.000:1.000:1.000 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "(deletion:cds_exon[125770762,125770918])" no_errors CHST15 51363 hgsc.bcm.edu 36 10 125788152 125788152 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 125788152 125788152 C T SNP GALNAC4S-6ST NM_015892 human genbank 54_36p -1 validated nonsense c.1059 p.W353* 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHUK 1147 hgsc.bcm.edu 36 10 101968553 101968553 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 101968553 101968553 T G SNP CHUK NM_001278 human genbank 54_36p -1 reviewed missense c.709 p.K237Q 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors COL17A1 1308 hgsc.bcm.edu 36 10 105811212 105811212 + Frame_Shift_Del DEL A A - novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A A - A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 105811212 105811212 A - DEL COL17A1 NM_000494 human genbank 54_36p -1 reviewed frame_shift_del c.920 p.V307fs 1 NULL HMMPfam_Collagen "(deletion:cds_exon[105811153,105811221])" no_errors COMMD3 23412 hgsc.bcm.edu 36 10 22645363 22645363 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 22645363 22645363 C T SNP COMMD3 NM_012071 human genbank 54_36p 1 validated missense c.11 p.S4L 1 NULL HMMPfam_HCaRG - no_errors CPXM2 119587 hgsc.bcm.edu 36 10 125529706 125529706 + Missense_Mutation SNP A A C novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 125529706 125529706 A C SNP CPXM2 NM_198148 human genbank 54_36p -1 validated missense c.945 p.D315E 1 superfamily_Zn-dependent exopeptidases ############################################################################################################################################################################################################################################################### - no_errors CTBP2 1488 hgsc.bcm.edu 36 10 126668113 126668113 + Frame_Shift_Del DEL T T - novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 126668113 126668113 T - DEL CTBP2 NM_022802 human genbank 54_36p -1 reviewed frame_shift_del c.2922 p.K974fs 1 NULL "superfamily_SSF52283,HMMPfam_2-Hacid_dh,superfamily_NAD(P)-bd,HMMPfam_2-Hacid_dh_C,PatternScan_D_2_HYDROXYACID_DH_3" "(deletion:cds_exon[126668077,126668257])" no_errors CUBN 8029 hgsc.bcm.edu 36 10 17007775 17007775 + Silent SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 17007775 17007775 G A SNP CUBN NM_001081 human genbank 54_36p -1 reviewed silent c.6276 p.C2092 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors CUBN 8029 hgsc.bcm.edu 36 10 17032057 17032057 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 17032057 17032057 G C SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.5029 p.R1677G 0 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors CYP26A1 1592 hgsc.bcm.edu 36 10 94825607 94825607 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 94825607 94825607 G C SNP CYP26A1 NM_000783 human genbank 54_36p 1 reviewed missense c.899 p.G300A 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C18 1562 hgsc.bcm.edu 36 10 96485151 96485151 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 96485151 96485151 G T SNP CYP2C18 NM_000772 human genbank 54_36p 1 reviewed missense c.1433 p.R478L 0 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors DDX21 9188 hgsc.bcm.edu 36 10 70393150 70393150 + Silent SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 70393150 70393150 G A SNP DDX21 NM_004728 human genbank 54_36p 1 reviewed silent c.705 p.G235 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_GUCT" - no_errors DHTKD1 55526 hgsc.bcm.edu 36 10 12188281 12188281 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 12188281 12188281 G A SNP DHTKD1 NM_018706 human genbank 54_36p 1 validated missense c.1927 p.V643I 1 "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transket_pyr" "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_E1_dh,HMMPfam_Transket_pyr" - no_errors DIP2C 22982 hgsc.bcm.edu 36 10 381048 381048 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 381048 381048 C - DEL DIP2C NM_014974 human genbank 54_36p -1 reviewed frame_shift_del c.3234 p.S1079fs 1 "superfamily_SSF56801,HMMPfam_AMP-binding" "PatternScan_AMP_BINDING,HMMPfam_DMAP_binding,superfamily_SSF56801,HMMPfam_AMP-binding" "(deletion:cds_exon[380939,381050])" no_errors DKK1 22943 hgsc.bcm.edu 36 10 53744229 53744229 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 53744229 53744229 C A SNP DKK1 NM_012242 human genbank 54_36p 1 reviewed missense c.29 p.T10N 0.05 NULL HMMPfam_Dickkopf_N - no_errors DLG5 9231 hgsc.bcm.edu 36 10 79265600 79265600 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 79265600 79265600 C A SNP DLG5 NM_004747 human genbank 54_36p -1 reviewed missense c.1524 p.E508D 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DNMBP 23268 hgsc.bcm.edu 36 10 101706483 101706483 + Silent SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 101706483 101706483 G T SNP DNMBP NM_015221 human genbank 54_36p -1 validated silent c.738 p.T246 0.98 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,HMMSmart_SM00721,HMMPfam_BAR" - no_errors DUSP13 51207 hgsc.bcm.edu 36 10 76533781 76533781 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 76533781 76533781 C T SNP DUSP13 ENST00000356369 human ensembl 54_36p -1 known missense c.448 p.G150S 0.01 NULL "superfamily_SSF52799,HMMPfam_DSPc" - no_errors ELOVL3 83401 hgsc.bcm.edu 36 10 103978216 103978216 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 103978216 103978216 G A SNP ELOVL3 NM_152310 human genbank 54_36p 1 provisional missense c.286 p.G96R 0 HMMPfam_ELO "HMMPfam_ELO,PatternScan_ELO" - no_errors ENTPD1 953 hgsc.bcm.edu 36 10 97589531 97589531 + Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 97589531 97589531 C T SNP ENTPD1 NM_001098175 human genbank 54_36p 1 validated nonsense c.259 p.Q87* 0.36 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors FAM171A1 221061 hgsc.bcm.edu 36 10 15336831 15336831 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 15336831 15336831 C A SNP FAM171A1 NM_001010924 human genbank 54_36p -1 validated nonsense c.472 p.E158* 0.78 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors FAM24A 118670 hgsc.bcm.edu 36 10 124662460 124662460 + Nonstop_Mutation SNP A A T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 124662460 124662460 A T SNP FAM24A NM_001029888 human genbank 54_36p 1 inferred nonstop c.318 p.*106C 0.04 NULL NULL - no_errors FAM53B 9679 hgsc.bcm.edu 36 10 126360750 126360750 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 126360750 126360750 G C SNP FAM53B NM_014661 human genbank 54_36p -1 validated missense c.322 p.P108A 1 NULL NULL - no_errors FGFR2 2263 hgsc.bcm.edu 36 10 123266854 123266854 + Silent SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 123266854 123266854 G C SNP FGFR2 NM_000141 human genbank 54_36p -1 reviewed silent c.1053 p.S351 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors FRMD4A 55691 hgsc.bcm.edu 36 10 13741413 13741414 + Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 13741413 13741414 CC - DEL FRMD4A NM_018027 human genbank 54_36p -1 validated frame_shift_del c.1982_1981 p.G661fs 0.862:0.644 NULL "superfamily_SSF54236,HMMSmart_B41,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C" "(deletion:cds_exon[13741329,13741496])" no_errors GRID1 2894 hgsc.bcm.edu 36 10 87474267 87474267 + Silent SNP T T C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 87474267 87474267 T C SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed silent c.1680 p.P560 0.99 "HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors HKDC1 80201 hgsc.bcm.edu 36 10 70662831 70662831 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 70662831 70662831 A C SNP HKDC1 NM_025130 human genbank 54_36p 1 validated missense c.431 p.K144T 0 "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain" "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" - no_errors HKDC1 80201 hgsc.bcm.edu 36 10 70680114 70680114 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 70680114 70680114 A G SNP HKDC1 NM_025130 human genbank 54_36p 1 validated missense c.1633 p.I545V 1 "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain" "HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES,superfamily_Actin-like ATPase domain" - no_errors HNRNPH3 3189 hgsc.bcm.edu 36 10 69771797 69771797 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 69771797 69771797 G A SNP HNRNPH3 NM_012207 human genbank 54_36p 1 reviewed missense c.1021 p.G341R 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors IDE 3416 hgsc.bcm.edu 36 10 94259867 94259867 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 94259867 94259867 T G SNP IDE NM_004969 human genbank 54_36p -1 validated missense c.817 p.K273Q 1 "superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16_C" "superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C" - no_errors IDI2 91734 hgsc.bcm.edu 36 10 1056735 1056735 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 1056735 1056735 T G SNP IDI2 NM_033261 human genbank 54_36p -1 provisional missense c.338 p.Q113P 0.89 "superfamily_NUDIX_hydrolase,HMMPfam_NUDIX" "superfamily_NUDIX_hydrolase,HMMPfam_NUDIX" - no_errors INPP5F 22876 hgsc.bcm.edu 36 10 121576919 121576919 + Silent SNP G G A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 121576919 121576919 G A SNP INPP5F NM_014937 human genbank 54_36p 1 reviewed silent c.3036 p.S1012 0.98 NULL HMMPfam_Syja_N - no_errors ITGA8 8516 hgsc.bcm.edu 36 10 15760749 15760749 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 15760749 15760749 C A SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.608 p.G203V 1 "superfamily_SSF69318,HMMSmart_Int_alpha" "superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ITIH5 80760 hgsc.bcm.edu 36 10 7658975 7658975 + Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 7658975 7658975 G C SNP ITIH5 NM_030569 human genbank 54_36p -1 validated nonsense c.1425 p.Y475* 0.96 "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA" "HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors ITIH5 80760 hgsc.bcm.edu 36 10 7661913 7661913 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 7661913 7661913 G C SNP ITIH5 NM_030569 human genbank 54_36p -1 validated missense c.1229 p.T410R 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00609,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_vWA-like" - no_errors JAKMIP3 282973 hgsc.bcm.edu 36 10 133799528 133799529 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 133799528 133799529 - T INS JAKMIP3 NM_001105521 human genbank 54_36p 1 provisional frame_shift_ins c.1074_1075 p.E358fs 1.000:1.000 NULL NULL - no_errors JMJD1C 221037 hgsc.bcm.edu 36 10 64624077 64624077 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 64624077 64624077 C T SNP JMJD1C NM_032776 human genbank 54_36p -1 validated missense c.5709 p.M1903I 1 NULL "HMMSmart_SM00558,superfamily_Clavaminate synthase-like,HMMPfam_JmjC" - no_errors KCNMA1 3778 hgsc.bcm.edu 36 10 78399792 78399792 + Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 78399792 78399792 T - DEL KCNMA1 NM_001014797 human genbank 54_36p -1 reviewed frame_shift_del c.2144 p.K715fs 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a,PatternScan_N6_MTASE" "(deletion:cds_exon[78399738,78399831])" no_errors FAM190B 54462 hgsc.bcm.edu 36 10 86249632 86249632 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 86249632 86249632 T G SNP KIAA1128 NM_018999 human genbank 54_36p 1 validated missense c.2347 p.F783V 1 NULL NULL - no_errors KIAA1217 56243 hgsc.bcm.edu 36 10 24872409 24872409 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 24872409 24872409 G T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated missense c.4204 p.D1402Y 0.95 NULL NULL - no_errors KNDC1 85442 hgsc.bcm.edu 36 10 134870381 134870381 + Silent SNP G G T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 134870381 134870381 G T SNP KNDC1 NM_152643 human genbank 54_36p 1 validated silent c.3513 p.L1171 1 NULL "HMMSmart_SM00750,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF" - no_errors LIPK 643414 hgsc.bcm.edu 36 10 90481996 90481996 + Silent SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 90481996 90481996 C T SNP LIPK NM_001080518 human genbank 54_36p 1 provisional silent c.504 p.Y168 1 "superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER" "superfamily_SSF53474,HMMPfam_Abhydro_lipase,HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER" - no_errors LRRC27 80313 hgsc.bcm.edu 36 10 134025046 134025046 + Silent SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 134025046 134025046 G A SNP LRRC27 NM_030626 human genbank 54_36p 1 validated silent c.1266 p.S422 0 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors MASTL 84930 hgsc.bcm.edu 36 10 27499593 27499593 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 27499593 27499593 A G SNP MASTL NM_032844 human genbank 54_36p 1 validated missense c.1699 p.M567V 0.01 superfamily_Kinase_like "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X" - no_errors MCM10 55388 hgsc.bcm.edu 36 10 13257630 13257630 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 13257630 13257630 G T SNP MCM10 NM_182751 human genbank 54_36p 1 reviewed missense c.710 p.S237I 0 NULL "HMMPfam_zf-primase,HMMPfam_Mcm10" - no_errors MKI67 4288 hgsc.bcm.edu 36 10 129793291 129793291 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 129793291 129793291 G T SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed missense c.6803 p.T2268K 0 HMMPfam_K167R "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_K167R" - no_errors MKX 283078 hgsc.bcm.edu 36 10 28004277 28004277 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 28004277 28004277 T C SNP MKX NM_173576 human genbank 54_36p -1 validated missense c.946 p.N316D 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors MYO3A 53904 hgsc.bcm.edu 36 10 26425326 26425326 + Missense_Mutation SNP A C C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 26425326 26425326 A C SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.1573 p.N525H 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ" - no_errors MYO3A 53904 hgsc.bcm.edu 36 10 26425327 26425327 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 26425327 26425327 A G SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.1574 p.N525S 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors MYO3A 53904 hgsc.bcm.edu 36 10 26425327 26425327 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 26425327 26425327 A G SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.1574 p.N525S 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors MYOZ1 58529 hgsc.bcm.edu 36 10 75064429 75064429 + Nonsense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 75064429 75064429 G C SNP MYOZ1 NM_021245 human genbank 54_36p -1 provisional nonsense c.321 p.Y107* 0.95 HMMPfam_Calsarcin HMMPfam_Calsarcin - no_errors MYPN 84665 hgsc.bcm.edu 36 10 69596398 69596398 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 69596398 69596398 G C SNP MYPN NM_032578 human genbank 54_36p 1 validated missense c.1942 p.E648Q 1 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,PatternScan_ER_TARGET" - no_errors MYPN 84665 hgsc.bcm.edu 36 10 69625245 69625245 + Silent SNP A A T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 69625245 69625245 A T SNP MYPN NM_032578 human genbank 54_36p 1 validated silent c.3108 p.V1036 0.99 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "PatternScan_ER_TARGET,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors MYST4 23522 hgsc.bcm.edu 36 10 76451776 76451776 + Silent SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 76451776 76451776 C T SNP MYST4 NM_012330 human genbank 54_36p 1 validated silent c.3153 p.S1051 1 NULL "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors MYST4 23522 hgsc.bcm.edu 36 10 76451912 76451914 + In_Frame_Del DEL GAA GAA - rs3217598 Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 GAA GAA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 76451912 76451914 GAA - DEL MYST4 NM_012330 human genbank 54_36p 1 validated in_frame_del c.3289_3291 p.E1100in_frame_del 0.145:0.135:0.125 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" "(deletion:cds_exon[76451645,76451995])" no_errors MYST4 23522 hgsc.bcm.edu 36 10 76451914 76451914 + Silent SNP A A G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 76451914 76451914 A G SNP MYST4 NM_012330 human genbank 54_36p 1 validated silent c.3291 p.E1097 0.13 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors MYST4 23522 hgsc.bcm.edu 36 10 76451914 76451914 + Silent SNP A A G novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 76451914 76451914 A G SNP MYST4 NM_012330 human genbank 54_36p 1 validated silent c.3291 p.E1097 0.13 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors NDST2 8509 hgsc.bcm.edu 36 10 75233701 75233701 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 75233701 75233701 C A SNP NDST2 NM_003635 human genbank 54_36p -1 reviewed missense c.1923 p.E641D 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors NRAP 4892 hgsc.bcm.edu 36 10 115392776 115392776 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 115392776 115392776 C G SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.1122 p.K374N 1 "HMMSmart_SM00227,HMMPfam_Nebulin" "HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,HMMSmart_SM00227,HMMPfam_Nebulin" - no_errors NRAP 4892 hgsc.bcm.edu 36 10 115413581 115413581 + Silent SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 115413581 115413581 C T SNP NRAP NM_198060 human genbank 54_36p -1 validated silent c.51 p.E17 1 "HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors OPTN 10133 hgsc.bcm.edu 36 10 13206088 13206088 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 13206088 13206088 G C SNP OPTN NM_001008211 human genbank 54_36p 1 reviewed missense c.970 p.E324Q 1 NULL NULL - no_errors CDHR1 92211 hgsc.bcm.edu 36 10 85962922 85962922 + Silent SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 85962922 85962922 G A SNP PCDH21 NM_033100 human genbank 54_36p 1 reviewed silent c.1878 p.T626 0.15 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors PDCD11 22984 hgsc.bcm.edu 36 10 105190044 105190044 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 105190044 105190044 C T SNP PDCD11 NM_014976 human genbank 54_36p 1 validated missense c.4156 p.H1386Y 0.13 "superfamily_Nucleic_acid_OB,HMMSmart_S1" "superfamily_Nucleic_acid_OB,HMMSmart_S1,HMMPfam_S1,superfamily_SSF48452,HMMSmart_HAT" - no_errors PDE6C 5146 hgsc.bcm.edu 36 10 95390680 95390680 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 95390680 95390680 A C SNP PDE6C NM_006204 human genbank 54_36p 1 validated missense c.1751 p.K584T 1 "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I" "superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDZD7 79955 hgsc.bcm.edu 36 10 102770424 102770424 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 102770424 102770424 T C SNP PDZD7 NM_024895 human genbank 54_36p -1 provisional missense c.869 p.E290G 1 "superfamily_PDZ domain-like,HMMSmart_SM00228" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors PFKP 5214 hgsc.bcm.edu 36 10 3168690 3168690 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 3168690 3168690 G A SNP PFKP NM_002627 human genbank 54_36p 1 validated missense c.2274 p.M758I 1 superfamily_Phosphofructokinase "HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE" - no_errors PI4K2A 55361 hgsc.bcm.edu 36 10 99406689 99406689 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 99406689 99406689 T C SNP PI4K2A NM_018425 human genbank 54_36p 1 provisional missense c.890 p.L297S 1 HMMPfam_PI3_PI4_kinase "PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF56399,HMMPfam_PI3_PI4_kinase" - no_errors PKD2L1 9033 hgsc.bcm.edu 36 10 102046802 102046802 + Silent SNP C C T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 102046802 102046802 C T SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed silent c.1110 p.E370 1 "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" - no_errors PLXDC2 84898 hgsc.bcm.edu 36 10 20472311 20472311 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 20472311 20472311 C T SNP PLXDC2 NM_032812 human genbank 54_36p 1 provisional missense c.623 p.P208L 1 NULL "HMMPfam_PSI,HMMSmart_SM00423" - no_errors POLR3A 11128 hgsc.bcm.edu 36 10 79447468 79447468 + Silent SNP G G A novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 79447468 79447468 G A SNP POLR3A NM_007055 human genbank 54_36p -1 validated silent c.1302 p.Y434 0.98 "superfamily_SSF64484,HMMSmart_RPOLA_N,HMMPfam_RNA_pol_Rpb1_2" "superfamily_SSF64484,HMMPfam_RNA_pol_Rpb1_1,HMMSmart_RPOLA_N,HMMPfam_RNA_pol_Rpb1_2,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_4,HMMPfam_RNA_pol_Rpb1_5" - no_errors PRKCQ 5588 hgsc.bcm.edu 36 10 6573670 6573670 + Silent SNP C C A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 6573670 6573670 C A SNP PRKCQ NM_006257 human genbank 54_36p -1 reviewed silent c.771 p.R257 0.32 "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" ############################################################################################################################################################################################################################################################### - no_errors PTCHD3 374308 hgsc.bcm.edu 36 10 27727479 27727479 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 27727479 27727479 T G SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated missense c.2054 p.K685T 0.01 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors PTPRE 5791 hgsc.bcm.edu 36 10 129761617 129761617 + Silent SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 129761617 129761617 C T SNP PTPRE NM_006504 human genbank 54_36p 1 reviewed silent c.1491 p.I497 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors RASGEF1A 221002 hgsc.bcm.edu 36 10 43016285 43016285 + Silent SNP A A G rs41301585 Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 43016285 43016285 A G SNP RASGEF1A NM_145313 human genbank 54_36p -1 validated silent c.517 p.L173 0.99 superfamily_Ras GEF "HMMSmart_SM00229,superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF" - no_errors RBM20 282996 hgsc.bcm.edu 36 10 112571627 112571628 + Frame_Shift_Ins INS - - C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 112571627 112571628 - C INS RBM20 ENST00000369519 human ensembl 54_36p 1 known frame_shift_ins c.1733_1734 p.I581fs 0.861:0.462 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360" - no_start_codon RET 5979 hgsc.bcm.edu 36 10 42942106 42942106 + Silent SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 42942106 42942106 G A SNP RET NM_020975 human genbank 54_36p 1 reviewed silent c.3117 p.P1039 1 NULL "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors SEC23IP 11196 hgsc.bcm.edu 36 10 121648144 121648144 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 121648144 121648144 C G SNP SEC23IP NM_007190 human genbank 54_36p 1 reviewed missense c.379 p.Q127E 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD" - no_errors SEMA4G 57715 hgsc.bcm.edu 36 10 102733097 102733097 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 102733097 102733097 A T SNP SEMA4G NM_017893 human genbank 54_36p 1 reviewed missense c.1751 p.D584V 1 "superfamily_SSF48726,HMMSmart_IG" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG" - no_errors SFXN4 119559 hgsc.bcm.edu 36 10 120910457 120910457 + Silent SNP G G C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 120910457 120910457 G C SNP SFXN4 NM_213649 human genbank 54_36p -1 validated silent c.294 p.P98 1 HMMPfam_Mtc HMMPfam_Mtc - no_errors SLC16A9 220963 hgsc.bcm.edu 36 10 61083438 61083438 + Splice_Site SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 61083438 61083438 C T SNP SLC16A9 NM_194298 human genbank 54_36p -1 validated splice_site c.1351+1 e4+1 1 - - - no_errors SLC39A12 221074 hgsc.bcm.edu 36 10 18310417 18310417 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 18310417 18310417 G C SNP SLC39A12 NM_152725 human genbank 54_36p 1 validated missense c.1095 p.E365D 1 NULL HMMPfam_Zip - no_errors SLC39A12 221074 hgsc.bcm.edu 36 10 18329722 18329722 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 18329722 18329722 C T SNP SLC39A12 NM_152725 human genbank 54_36p 1 validated missense c.1610 p.T537M 0.63 HMMPfam_Zip HMMPfam_Zip - no_errors SMC3 9126 hgsc.bcm.edu 36 10 112333647 112333647 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 112333647 112333647 A T SNP SMC3 NM_005445 human genbank 54_36p 1 reviewed missense c.1028 p.E343V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_BAG domain,superfamily_Smc hinge domain,HMMPfam_SMC_hinge,PatternScan_ABC_TRANSPORTER_1" - no_errors SORCS3 22986 hgsc.bcm.edu 36 10 106960914 106960914 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 106960914 106960914 G A SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed missense c.2291 p.S764N 1 HMMSmart_VPS10 "superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD" - no_errors STK32C 282974 hgsc.bcm.edu 36 10 133889025 133889025 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 133889025 133889025 G C SNP STK32C NM_173575 human genbank 54_36p -1 reviewed nonsense c.768 p.Y256* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors STK32C 282974 hgsc.bcm.edu 36 10 133889027 133889027 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 133889027 133889027 A T SNP STK32C NM_173575 human genbank 54_36p -1 reviewed missense c.766 p.Y256N 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors TACC2 10579 hgsc.bcm.edu 36 10 123978986 123978986 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 123978986 123978986 C T SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.8032 p.L2678F 1 NULL HMMPfam_TACC - no_errors TET1 80312 hgsc.bcm.edu 36 10 70096859 70096859 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 10 70096859 70096859 C T SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.4513 p.R1505C 1 NULL HMMPfam_zf-CXXC - no_errors TMEM180 79847 hgsc.bcm.edu 36 10 104219743 104219743 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 104219743 104219743 G C SNP TMEM180 NM_024789 human genbank 54_36p 1 validated missense c.172 p.V58L 1 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors TMEM180 79847 hgsc.bcm.edu 36 10 104225481 104225481 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 104225481 104225481 T A SNP TMEM180 NM_024789 human genbank 54_36p 1 validated missense c.1304 p.F435Y 1 NULL superfamily_MFS_gen_substrate_transporter - no_errors TRDMT1 1787 hgsc.bcm.edu 36 10 17241230 17241230 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 17241230 17241230 C A SNP TRDMT1 NM_004412 human genbank 54_36p -1 reviewed missense c.464 p.G155V 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_2" - no_errors TTC18 118491 hgsc.bcm.edu 36 10 74784536 74784536 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 74784536 74784536 T C SNP TTC18 NM_145170 human genbank 54_36p -1 provisional missense c.25 p.R9G 0.05 NULL "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors UNC5B 219699 hgsc.bcm.edu 36 10 72717438 72717438 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 72717438 72717438 C T SNP UNC5B NM_170744 human genbank 54_36p 1 validated missense c.811 p.R271W 0.99 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors USP54 159195 hgsc.bcm.edu 36 10 74947312 74947312 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 74947312 74947312 C T SNP USP54 NM_152586 human genbank 54_36p -1 provisional missense c.2878 p.E960K 0.1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH" - no_errors VCL 7414 hgsc.bcm.edu 36 10 75527073 75527073 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 75527073 75527073 C T SNP VCL NM_014000 human genbank 54_36p 1 reviewed missense c.1849 p.P617S 1 "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" "superfamily_alpha-catenin/vinculin,HMMPfam_Vinculin,PatternScan_VINCULIN_1,PatternScan_VINCULIN_2" - no_errors XPNPEP1 7511 hgsc.bcm.edu 36 10 111620539 111620539 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 10 111620539 111620539 C A SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional missense c.1507 p.G503C 1 "superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24" "HMMPfam_Creatinase_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE" - no_errors ZEB1 6935 hgsc.bcm.edu 36 10 31831307 31831307 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 10 31831307 31831307 T A SNP ZEB1 NM_030751 human genbank 54_36p 1 validated missense c.345 p.D115E 1 NULL "PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX" - no_errors ZNF33A 7581 hgsc.bcm.edu 36 10 38384539 38384539 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 10 38384539 38384539 A G SNP ZNF33A NM_006954 human genbank 54_36p 1 validated missense c.1481 p.D494G 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZRANB1 54764 hgsc.bcm.edu 36 10 126663551 126663551 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 126663551 126663551 A - DEL ZRANB1 NM_017580 human genbank 54_36p 1 validated frame_shift_del c.2127 p.*709fs 0.97 NULL "HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,superfamily_SSF90209,HMMPfam_OTU" "(deletion:cds_exon[126663333,126663551])" no_errors ABCG4 64137 hgsc.bcm.edu 36 11 118534634 118534634 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 118534634 118534634 C A SNP ABCG4 NM_022169 human genbank 54_36p 1 reviewed missense c.1325 p.T442N 1 HMMPfam_ABC2_membrane "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors ACCSL 390110 hgsc.bcm.edu 36 11 44026255 44026255 + Silent SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 44026255 44026255 G A SNP ACCSL NM_001031854 human genbank 54_36p 1 validated silent c.93 p.E31 0.01 NULL "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" - no_errors AHNAK 79026 hgsc.bcm.edu 36 11 62055013 62055013 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 62055013 62055013 G C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.3452 p.P1151R 0.01 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 hgsc.bcm.edu 36 11 62057174 62057174 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 62057174 62057174 C T SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.1291 p.V431M 0.01 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AMBRA1 55626 hgsc.bcm.edu 36 11 46396117 46396117 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 46396117 46396117 G C SNP AMBRA1 NM_017749 human genbank 54_36p -1 validated missense c.2768 p.S923C 1 NULL "HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors AMICA1 120425 hgsc.bcm.edu 36 11 117579494 117579494 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 117579494 117579494 C A SNP AMICA1 NM_001098526 human genbank 54_36p -1 validated missense c.631 p.D211Y 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors AMPD3 272 hgsc.bcm.edu 36 11 10463033 10463033 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 10463033 10463033 G T SNP AMPD3 NM_000480 human genbank 54_36p 1 reviewed missense c.707 p.G236V 1 NULL "superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE" - no_errors ANO3 63982 hgsc.bcm.edu 36 11 26617345 26617345 + Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 26617345 26617345 T A SNP ANO3 NM_031418 human genbank 54_36p 1 validated missense c.2122 p.F708I 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors AP2A2 161 hgsc.bcm.edu 36 11 983375 983375 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 983375 983375 G A SNP AP2A2 NM_012305 human genbank 54_36p 1 validated missense c.1544 p.R515K 0.92 "superfamily_ARM repeat,HMMPfam_Adaptin_N" "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,HMMPfam_Alpha_adaptin_C,superfamily_Subdomain of clathrin and coatomer appendage domain" - no_errors APLP2 334 hgsc.bcm.edu 36 11 129498784 129498784 + Silent SNP C C G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 129498784 129498784 C G SNP APLP2 NM_001642 human genbank 54_36p 1 validated silent c.990 p.L330 0.99 "superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI" ############################################################################################################################################################################################################################################################### - no_errors ARAP1 116985 hgsc.bcm.edu 36 11 72084460 72084460 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 72084460 72084460 G - DEL ARAP1 NM_001040118 human genbank 54_36p -1 reviewed frame_shift_del c.3371 p.A1124fs 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[72084411,72084558])" no_errors ARFGAP2 84364 hgsc.bcm.edu 36 11 47154032 47154032 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 47154032 47154032 G - DEL ARFGAP2 NM_032389 human genbank 54_36p -1 provisional frame_shift_del c.210 p.N71fs 1 "superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap" "superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap" "(deletion:cds_exon[47153978,47154050])" no_errors ARHGAP1 392 hgsc.bcm.edu 36 11 46659209 46659209 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 46659209 46659209 T C SNP ARHGAP1 NM_004308 human genbank 54_36p -1 provisional missense c.563 p.Y188C 1 "superfamily_CRAL_TRIO_C,HMMSmart_SEC14" "superfamily_CRAL_TRIO_C,HMMSmart_SEC14,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors ARHGAP20 57569 hgsc.bcm.edu 36 11 109955430 109955431 + Frame_Shift_Del DEL AG AG - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 AG AG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 109955430 109955431 AG - DEL ARHGAP20 NM_020809 human genbank 54_36p -1 validated frame_shift_del c.3450_3449 p.S1150fs 0.005:0.005 NULL "superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_RA,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "(deletion:cds_exon[109955304,109957159])" no_errors ARHGAP20 57569 hgsc.bcm.edu 36 11 109959541 109959541 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 109959541 109959541 T G SNP ARHGAP20 NM_020809 human genbank 54_36p -1 validated missense c.1546 p.S516R 1 "HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP" "HMMPfam_RA,HMMPfam_RhoGAP,HMMSmart_SM00324,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ARHGEF12 23365 hgsc.bcm.edu 36 11 119841167 119841167 + Silent SNP A A T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 119841167 119841167 A T SNP ARHGEF12 NM_015313 human genbank 54_36p 1 reviewed silent c.2625 p.P875 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors ARHGEF12 23365 hgsc.bcm.edu 36 11 119855911 119855911 + Silent SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 119855911 119855911 C T SNP ARHGEF12 NM_015313 human genbank 54_36p 1 reviewed silent c.3799 p.L1267 1 NULL ############################################################################################################################################################################################################################################################### - no_errors B3GAT1 27087 hgsc.bcm.edu 36 11 133762733 133762733 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 133762733 133762733 C T SNP B3GAT1 NM_018644 human genbank 54_36p -1 reviewed missense c.31 p.V11I 1 NULL "superfamily_SSF53448,HMMPfam_Glyco_transf_43" - no_errors B4GALNT4 338707 hgsc.bcm.edu 36 11 370167 370167 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 370167 370167 T C SNP B4GALNT4 NM_178537 human genbank 54_36p 1 provisional missense c.2680 p.S894P 1 "HMMPfam_CHGN,superfamily_SSF53448" "HMMSmart_PA14,HMMPfam_PA14,HMMPfam_CHGN,superfamily_SSF53448" - no_errors BCL9L 283149 hgsc.bcm.edu 36 11 118277095 118277095 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 118277095 118277095 T A SNP BCL9L NM_182557 human genbank 54_36p -1 validated missense c.2567 p.Y856F 0.99 NULL PatternScan_RIBOSOMAL_S6E - no_errors BIRC2 329 hgsc.bcm.edu 36 11 101726122 101726122 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 101726122 101726122 C T SNP BIRC2 NM_001166 human genbank 54_36p 1 reviewed silent c.327 p.S109 0.97 "superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR" "PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors C11orf30 56946 hgsc.bcm.edu 36 11 75852599 75852599 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 75852599 75852599 G T SNP C11orf30 NM_020193 human genbank 54_36p 1 validated missense c.658 p.V220F 1 NULL HMMPfam_ENT - no_errors C11orf30 56946 hgsc.bcm.edu 36 11 75852606 75852606 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 75852606 75852606 A T SNP C11orf30 NM_020193 human genbank 54_36p 1 validated missense c.665 p.K222M 1 NULL HMMPfam_ENT - no_errors C11orf63 79864 hgsc.bcm.edu 36 11 122261782 122261782 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 122261782 122261782 A T SNP C11orf63 NM_024806 human genbank 54_36p 1 validated missense c.15 p.K5N 0.01 NULL NULL - no_errors C11orf87 399947 hgsc.bcm.edu 36 11 108799745 108799745 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 108799745 108799745 C A SNP C11orf87 NM_207645 human genbank 54_36p 1 predicted missense c.176 p.S59Y 1 NULL NULL - no_errors C2CD3 26005 hgsc.bcm.edu 36 11 73467044 73467044 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 73467044 73467044 T G SNP C2CD3 NM_015531 human genbank 54_36p -1 validated missense c.4367 p.E1456A 0.01 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors CASP1 834 hgsc.bcm.edu 36 11 104405082 104405082 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 104405082 104405082 C T SNP CASP1 NM_033292 human genbank 54_36p -1 reviewed missense c.985 p.A329T 0.99 "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14" "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,PatternScan_AMP_BINDING,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CASP5 838 hgsc.bcm.edu 36 11 104383251 104383251 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 104383251 104383251 T - DEL CASP5 NM_004347 human genbank 54_36p -1 reviewed frame_shift_del c.154 p.T52fs 0 "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52129,HMMSmart_CASc,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" "(deletion:cds_exon[104383020,104383271])" no_errors CAT 847 hgsc.bcm.edu 36 11 34439404 34439404 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 34439404 34439404 C T SNP CAT NM_001752 human genbank 54_36p 1 validated missense c.1087 p.R363C 1 "superfamily_Catalase_N,HMMPfam_Catalase" "superfamily_Catalase_N,HMMPfam_Catalase,PatternScan_CATALASE_2,PatternScan_CATALASE_1,HMMPfam_Catalase-rel" - no_errors CATSPER1 117144 hgsc.bcm.edu 36 11 65544913 65544913 + Silent SNP G G A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 65544913 65544913 G A SNP CATSPER1 NM_053054 human genbank 54_36p -1 reviewed silent c.1872 p.F624 0.95 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CATSPER1 117144 hgsc.bcm.edu 36 11 65549931 65549931 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 65549931 65549931 C T SNP CATSPER1 NM_053054 human genbank 54_36p -1 reviewed missense c.496 p.V166M 0.72 NULL "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors CCDC67 159989 hgsc.bcm.edu 36 11 92742901 92742901 + Silent SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 92742901 92742901 G A SNP CCDC67 NM_181645 human genbank 54_36p 1 validated silent c.447 p.K149 1 NULL NULL - no_errors CCDC67 159989 hgsc.bcm.edu 36 11 92744058 92744058 + Silent SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 92744058 92744058 C T SNP CCDC67 NM_181645 human genbank 54_36p 1 validated silent c.753 p.L251 1 NULL NULL - no_errors CCDC84 338657 hgsc.bcm.edu 36 11 118391303 118391303 + Silent SNP A A T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 118391303 118391303 A T SNP CCDC84 NM_198489 human genbank 54_36p 1 provisional silent c.882 p.A294 0.99 NULL NULL - no_errors CCDC87 55231 hgsc.bcm.edu 36 11 66116013 66116014 + Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 66116013 66116014 CC - DEL CCDC87 NM_018219 human genbank 54_36p -1 validated frame_shift_del c.1050_1049 p.G350fs 0.001:0.000 NULL NULL "(deletion:cds_exon[66114513,66117062])" no_errors CCKBR 887 hgsc.bcm.edu 36 11 6247615 6247615 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 6247615 6247615 G T SNP CCKBR NM_176875 human genbank 54_36p 1 reviewed missense c.292 p.V98F 0.98 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CD3E 916 hgsc.bcm.edu 36 11 117689679 117689679 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 117689679 117689679 G C SNP CD3E NM_000733 human genbank 54_36p 1 reviewed missense c.400 p.V134L 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_ITAM,HMMSmart_SM00077" - no_errors CD3E 916 hgsc.bcm.edu 36 11 117691453 117691453 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 117691453 117691453 C G SNP CD3E NM_000733 human genbank 54_36p 1 reviewed missense c.610 p.Q204E 1 "HMMPfam_ITAM,HMMSmart_SM00077" "HMMPfam_ITAM,HMMSmart_SM00077,HMMSmart_SM00408,superfamily_Immunoglobulin" - no_errors CHKA 1119 hgsc.bcm.edu 36 11 67594313 67594313 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 67594313 67594313 A G SNP CHKA NM_001277 human genbank 54_36p -1 reviewed missense c.788 p.I263T 0.72 "superfamily_Protein kinase-like (PK-like),HMMPfam_Choline_kinase" "superfamily_Protein kinase-like (PK-like),HMMPfam_Choline_kinase" - no_errors CLP1 10978 hgsc.bcm.edu 36 11 57183719 57183719 + Silent SNP T T A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 57183719 57183719 T A SNP CLP1 NM_006831 human genbank 54_36p 1 validated silent c.195 p.V65 0.97 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Clp1" - no_errors CNTF 1270 hgsc.bcm.edu 36 11 58148441 58148441 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 58148441 58148441 G A SNP CNTF NM_000614 human genbank 54_36p 1 reviewed missense c.473 p.G158D 1 "HMMPfam_CNTF,superfamily_4-helical cytokines" "HMMPfam_CNTF,superfamily_4-helical cytokines" - no_errors COMMD9 29099 hgsc.bcm.edu 36 11 36252823 36252823 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 36252823 36252823 G C SNP COMMD9 NM_014186 human genbank 54_36p -1 validated missense c.532 p.L178V 0.99 HMMPfam_HCaRG HMMPfam_HCaRG - no_errors COPB1 1315 hgsc.bcm.edu 36 11 14455092 14455092 + Silent SNP G G C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 14455092 14455092 G C SNP COPB1 NM_016451 human genbank 54_36p -1 reviewed silent c.1404 p.T468 1 "HMMPfam_Adaptin_N,superfamily_ARM-type_fold" "HMMPfam_Adaptin_N,superfamily_ARM-type_fold,HMMPfam_Coatamer_beta_C" - no_errors CTR9 9646 hgsc.bcm.edu 36 11 10734923 10734923 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 10734923 10734923 A G SNP CTR9 NM_014633 human genbank 54_36p 1 provisional missense c.554 p.Y185C 1 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors CTSF 8722 hgsc.bcm.edu 36 11 66089927 66089928 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 66089927 66089928 CT - DEL CTSF NM_003793 human genbank 54_36p -1 reviewed frame_shift_del c.915_914 p.E305fs 1.000:1.000 "superfamily_SSF54001,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1" "PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Inhibitor_I29,superfamily_SSF54001,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS" "(deletion:cds_exon[66089878,66089974])" no_errors DCHS1 8642 hgsc.bcm.edu 36 11 6618172 6618172 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 6618172 6618172 G - DEL DCHS1 NM_003737 human genbank 54_36p -1 reviewed frame_shift_del c.1249 p.Q417fs 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" "(deletion:cds_exon[6617624,6619420])" no_errors DDB1 1642 hgsc.bcm.edu 36 11 60836040 60836040 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 60836040 60836040 G A SNP DDB1 NM_001923 human genbank 54_36p -1 validated missense c.2162 p.P721L 1 NULL HMMPfam_CPSF_A - no_errors DDB1 1642 hgsc.bcm.edu 36 11 60838245 60838245 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C G G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 60838245 60838245 C G SNP DDB1 NM_001923 human genbank 54_36p -1 validated missense c.1603 p.E535Q 1 NULL HMMPfam_CPSF_A - no_errors DDX25 29118 hgsc.bcm.edu 36 11 125293764 125293765 + In_Frame_Ins INS - - GAT novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 125293764 125293765 - GAT INS DDX25 NM_013264 human genbank 54_36p 1 reviewed in_frame_ins c.728_729 p.245in_frame_insM 1.000:1.000 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors EHD1 10938 hgsc.bcm.edu 36 11 64398552 64398552 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 64398552 64398552 T - DEL EHD1 NM_006795 human genbank 54_36p -1 reviewed frame_shift_del c.419 p.Q140fs 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1" "(deletion:cds_exon[64398469,64398566])" no_errors ELP4 26610 hgsc.bcm.edu 36 11 31628239 31628239 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 31628239 31628239 G C SNP ELP4 NM_019040 human genbank 54_36p 1 reviewed missense c.1037 p.G346A 1 HMMPfam_PAXNEB HMMPfam_PAXNEB - no_errors F2 2147 hgsc.bcm.edu 36 11 46697948 46697948 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 46697948 46697948 A T SNP F2 NM_000506 human genbank 54_36p 1 reviewed missense c.200 p.Y67F 0.98 "HMMSmart_GLA,superfamily_VitK_dep_GLA,HMMPfam_Gla,PatternScan_GLA_1" ############################################################################################################################################################################################################################################################### - no_errors FADS2 9415 hgsc.bcm.edu 36 11 61352599 61352600 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 61352599 61352600 - G INS FADS2 NM_004265 human genbank 54_36p 1 reviewed frame_shift_ins c.161_162 p.Q57fs 1.000:0.973 "superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5" "superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_FA_desaturase" - no_errors FAM111A 63901 hgsc.bcm.edu 36 11 58677422 58677422 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 58677422 58677422 C G SNP FAM111A NM_022074 human genbank 54_36p 1 validated missense c.1705 p.R569G 0 superfamily_Pept_Ser_Cys superfamily_Pept_Ser_Cys - no_errors FCHSD2 9873 hgsc.bcm.edu 36 11 72389705 72389705 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 72389705 72389705 A - DEL FCHSD2 NM_014824 human genbank 54_36p -1 validated frame_shift_del c.197 p.L66fs 1 NULL "HMMPfam_FCH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" "(deletion:cds_exon[72389683,72389827])" no_errors GAB2 9846 hgsc.bcm.edu 36 11 77608095 77608095 + Silent SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 77608095 77608095 G C SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed silent c.1902 p.S634 0.27 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors GAB2 9846 hgsc.bcm.edu 36 11 77615537 77615537 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 77615537 77615537 G A SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed missense c.829 p.H277Y 0.49 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors GAS2 2620 hgsc.bcm.edu 36 11 22663843 22663843 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 22663843 22663843 C A SNP GAS2 NM_005256 human genbank 54_36p 1 reviewed missense c.199 p.L67I 1 "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243" - no_errors GDPD5 81544 hgsc.bcm.edu 36 11 74866335 74866335 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 74866335 74866335 G A SNP GDPD5 NM_030792 human genbank 54_36p -1 validated missense c.94 p.R32C 1 NULL "superfamily_PLC-like phosphodiesterases,HMMPfam_GDPD" - no_errors GRIK4 2900 hgsc.bcm.edu 36 11 120207880 120207880 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 120207880 120207880 C T SNP GRIK4 NM_014619 human genbank 54_36p 1 reviewed silent c.621 p.I207 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRM5 2915 hgsc.bcm.edu 36 11 87939936 87939936 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 87939936 87939936 C T SNP GRM5 NM_000842 human genbank 54_36p -1 reviewed missense c.2563 p.A855T 0.98 NULL "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg" - no_errors HIPK3 10114 hgsc.bcm.edu 36 11 33331534 33331534 + Silent SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 33331534 33331534 C T SNP HIPK3 NM_005734 human genbank 54_36p 1 validated silent c.3492 p.V1164 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors IGHMBP2 3508 hgsc.bcm.edu 36 11 68460338 68460338 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 68460338 68460338 G - DEL IGHMBP2 NM_002180 human genbank 54_36p 1 reviewed frame_shift_del c.1814 p.R605fs 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154" "(deletion:cds_exon[68460281,68461135])" no_errors IGSF9B 22997 hgsc.bcm.edu 36 11 133306213 133306213 + Silent SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 133306213 133306213 G A SNP IGSF9B NM_014987 human genbank 54_36p -1 validated silent c.1395 p.H465 1 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3" - no_errors IL10RA 3587 hgsc.bcm.edu 36 11 117375476 117375476 + Silent SNP C C A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 117375476 117375476 C A SNP IL10RA NM_001558 human genbank 54_36p 1 reviewed silent c.1647 p.G549 0.02 NULL "HMMPfam_IL10Ra-bind,superfamily_Fibronectin type III" - no_errors INSC 387755 hgsc.bcm.edu 36 11 15090598 15090598 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 15090598 15090598 C T SNP INSC NM_001031853 human genbank 54_36p 1 provisional missense c.7 p.R3W 0.73 NULL "PatternScan_PA2_HIS,superfamily_ARM repeat,HMMSmart_SM00185" - no_errors INSC 387755 hgsc.bcm.edu 36 11 15203905 15203906 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 15203905 15203906 CT - DEL INSC NM_001031853 human genbank 54_36p 1 provisional frame_shift_del c.1266_1267 p.C423fs 1.000:1.000 superfamily_ARM repeat "HMMSmart_SM00185,PatternScan_PA2_HIS,superfamily_ARM repeat" "(deletion:cds_exon[15203772,15203950])" no_errors KBTBD4 55709 hgsc.bcm.edu 36 11 47551243 47551243 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 47551243 47551243 C G SNP KBTBD4 NM_016506 human genbank 54_36p -1 validated missense c.1372 p.E458Q 1 superfamily_Gal_oxid_central "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMPfam_Kelch_2,superfamily_Gal_oxid_central,HMMPfam_Kelch_1" - no_errors KCNA4 3739 hgsc.bcm.edu 36 11 29990204 29990204 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 29990204 29990204 T C SNP KCNA4 NM_002233 human genbank 54_36p -1 reviewed missense c.598 p.T200A 1 "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" "HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCNJ1 3758 hgsc.bcm.edu 36 11 128214571 128214571 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 128214571 128214571 A T SNP KCNJ1 NM_000220 human genbank 54_36p -1 reviewed missense c.835 p.F279I 1 "HMMPfam_IRK,superfamily_E set domains" "superfamily_Voltage-gated potassium channels,HMMPfam_IRK,superfamily_E set domains" - no_errors KCNJ1 3758 hgsc.bcm.edu 36 11 128215201 128215201 + Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A - A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 128215201 128215201 A - DEL KCNJ1 NM_000220 human genbank 54_36p -1 reviewed frame_shift_del c.205 p.W69fs 1 "HMMPfam_IRK,superfamily_Voltage-gated potassium channels" "HMMPfam_IRK,superfamily_E set domains,superfamily_Voltage-gated potassium channels" "(deletion:cds_exon[128214230,128215369])" no_errors KCTD14 65987 hgsc.bcm.edu 36 11 77405438 77405438 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 77405438 77405438 G A SNP KCTD14 NM_023930 human genbank 54_36p -1 validated missense c.617 p.A206V 1 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" - no_errors KDM2A 22992 hgsc.bcm.edu 36 11 66739976 66739976 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 66739976 66739976 C T SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.667 p.H223Y 1 "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-CXXC,PatternScan_2FE2S_FER_1,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367" - no_errors KDM2A 22992 hgsc.bcm.edu 36 11 66776851 66776851 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 66776851 66776851 G A SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.2879 p.S960N 1 superfamily_RNI-like "HMMPfam_F-box,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00558,PatternScan_2FE2S_FER_1,HMMSmart_SM00367,HMMPfam_JmjC,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,superfamily_RNI-like" - no_errors KRTAP5-5 439915 hgsc.bcm.edu 36 11 1607696 1607696 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 1607696 1607696 G T SNP KRTAP5-5 NM_001001480 human genbank 54_36p 1 validated missense c.50 p.R17L 0.99 NULL "PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_2FE2S_FER_1" - no_errors LRP5 4041 hgsc.bcm.edu 36 11 67872115 67872115 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 67872115 67872115 G A SNP LRP5 NM_002335 human genbank 54_36p 1 validated missense c.316 p.G106S 1 "superfamily_YWTD domain,HMMPfam_Ldl_recept_b,HMMSmart_SM00135" "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors MADD 8567 hgsc.bcm.edu 36 11 47302391 47302391 + Splice_Site SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 47302391 47302391 G T SNP MADD NM_003682 human genbank 54_36p 1 reviewed splice_site c.4543-1 e31-1 1 - - - no_errors MADD 8567 hgsc.bcm.edu 36 11 47307260 47307260 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 47307260 47307260 C T SNP MADD NM_003682 human genbank 54_36p 1 reviewed missense c.4927 p.R1643W 1 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMSmart_SM00801,HMMPfam_dDENN" - no_errors MED19 219541 hgsc.bcm.edu 36 11 57229139 57229139 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 57229139 57229139 G A SNP MED19 NM_153450 human genbank 54_36p -1 provisional missense c.356 p.P119L 1 HMMPfam_Med19 HMMPfam_Med19 - no_errors MEN1 4221 hgsc.bcm.edu 36 11 64329795 64329795 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 64329795 64329795 T C SNP MEN1 NM_000244 human genbank 54_36p -1 reviewed missense c.1088 p.E363G 1 HMMPfam_Menin HMMPfam_Menin - no_errors METTL12 751071 hgsc.bcm.edu 36 11 62189931 62189932 + Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 62189931 62189932 - C INS METTL12 NM_001043229 human genbank 54_36p 1 validated frame_shift_ins c.4_5 p.A3fs 0.199:0.108 NULL "superfamily_SSF53335,HMMPfam_Methyltransf_11" - no_errors MLL 4297 hgsc.bcm.edu 36 11 117848588 117848588 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 117848588 117848588 G T SNP MLL NM_005933 human genbank 54_36p 1 validated nonsense c.1504 p.E502* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL 4297 hgsc.bcm.edu 36 11 117882474 117882474 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 117882474 117882474 G C SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.10648 p.G3550R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MMP1 4312 hgsc.bcm.edu 36 11 102168642 102168642 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 102168642 102168642 C G SNP MMP1 NM_002421 human genbank 54_36p -1 reviewed missense c.937 p.E313Q 0.39 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors MMP27 64066 hgsc.bcm.edu 36 11 102069922 102069922 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 102069922 102069922 A T SNP MMP27 NM_022122 human genbank 54_36p -1 reviewed missense c.1118 p.V373E 0.9 superfamily_Hemopexin-like domain ############################################################################################################################################################################################################################################################### - no_errors MMP3 4314 hgsc.bcm.edu 36 11 102215174 102215174 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 102215174 102215174 G A SNP MMP3 NM_002422 human genbank 54_36p -1 reviewed missense c.946 p.R316C 1 "superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" ############################################################################################################################################################################################################################################################### - no_errors MS4A14 84689 hgsc.bcm.edu 36 11 59927101 59927101 + Silent SNP T T C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 59927101 59927101 T C SNP MS4A14 NM_032597 human genbank 54_36p 1 validated silent c.459 p.T153 0 HMMPfam_CD20 HMMPfam_CD20 - no_errors MS4A3 932 hgsc.bcm.edu 36 11 59586643 59586643 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 59586643 59586643 G T SNP MS4A3 NM_006138 human genbank 54_36p 1 reviewed missense c.283 p.G95C 0.55 HMMPfam_CD20 HMMPfam_CD20 - no_errors MTL5 9633 hgsc.bcm.edu 36 11 68269133 68269133 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 68269133 68269133 C G SNP MTL5 NM_004923 human genbank 54_36p -1 reviewed missense c.653 p.G218A 0.99 NULL HMMPfam_CXC - no_errors MUC15 143662 hgsc.bcm.edu 36 11 26541255 26541255 + Silent SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 26541255 26541255 G A SNP MUC15 NM_145650 human genbank 54_36p -1 validated silent c.828 p.D276 0.99 NULL NULL - no_errors MUC6 4588 hgsc.bcm.edu 36 11 1006041 1006042 + Frame_Shift_Ins INS - - C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 1006041 1006042 - C INS MUC6 NM_005961 human genbank 54_36p -1 validated frame_shift_ins c.6760_6759 p.T2253fs 0.391:0.326 NULL "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00041" - no_errors MUC6 4588 hgsc.bcm.edu 36 11 1007069 1007069 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 1007069 1007069 G A SNP MUC6 NM_005961 human genbank 54_36p -1 validated missense c.5732 p.T1911M 0.02 NULL "HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,HMMSmart_SM00215,HMMPfam_C8,HMMPfam_TIL" - no_errors MUC6 4588 hgsc.bcm.edu 36 11 1007773 1007773 + Silent SNP G G A rs57384288 Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 1007773 1007773 G A SNP MUC6 NM_005961 human genbank 54_36p -1 validated silent c.5028 p.S1676 0 NULL "HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,HMMSmart_SM00215,HMMPfam_C8,HMMPfam_TIL" - no_errors MUS81 80198 hgsc.bcm.edu 36 11 65389356 65389356 + Nonsense_Mutation SNP C C G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 65389356 65389356 C G SNP MUS81 NM_025128 human genbank 54_36p 1 validated nonsense c.1491 p.Y497* 1 NULL "superfamily_DNApol_B_N_like,superfamily_Restrict_endonuc_II-like_core,HMMPfam_ERCC4,HMMSmart_HhH1" - no_errors MYBPC3 4607 hgsc.bcm.edu 36 11 47315686 47315686 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 47315686 47315686 T G SNP MYBPC3 NM_000256 human genbank 54_36p -1 reviewed missense c.2434 p.K812Q 1 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2" - no_errors NAT10 55226 hgsc.bcm.edu 36 11 34114772 34114772 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 34114772 34114772 G A SNP NAT10 NM_024662 human genbank 54_36p 1 validated missense c.2036 p.S679N 1 NULL "HMMPfam_DUF1726,HMMPfam_DUF699,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors NFRKB 4798 hgsc.bcm.edu 36 11 129251844 129251844 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 129251844 129251844 C T SNP NFRKB NM_006165 human genbank 54_36p -1 validated missense c.1804 p.V602I 1 NULL NULL - no_errors NPAS4 266743 hgsc.bcm.edu 36 11 65948061 65948063 + In_Frame_Del DEL TCC TCC - novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 TCC TCC . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 65948061 65948063 TCC - DEL NPAS4 NM_178864 human genbank 54_36p 1 validated in_frame_del c.1124_1126 p.FP375in_frame_delS 0.683:0.649:0.550 NULL "HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3" "(deletion:cds_exon[65947882,65949317])" no_errors NR1H3 10062 hgsc.bcm.edu 36 11 47237984 47237984 + Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 47237984 47237984 G - DEL NR1H3 NM_005693 human genbank 54_36p 1 validated frame_shift_del c.110 p.S37fs 0 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[47237918,47238106])" no_errors NR1H3 10062 hgsc.bcm.edu 36 11 47238769 47238769 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 47238769 47238769 C A SNP NR1H3 NM_005693 human genbank 54_36p 1 validated missense c.466 p.R156S 1 "HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" ############################################################################################################################################################################################################################################################### - no_errors NTM 50863 hgsc.bcm.edu 36 11 131521478 131521478 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 131521478 131521478 G A SNP NTM NM_001048209 human genbank 54_36p 1 reviewed missense c.260 p.R87H 1 "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig" - no_errors NTM 50863 hgsc.bcm.edu 36 11 131521553 131521553 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 131521553 131521553 C A SNP NTM NM_001048209 human genbank 54_36p 1 reviewed missense c.335 p.P112H 0.92 "HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726" "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors NUP160 23279 hgsc.bcm.edu 36 11 47771032 47771032 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 47771032 47771032 T G SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.3332 p.E1111A 1 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors NUP98 4928 hgsc.bcm.edu 36 11 3709314 3709314 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 3709314 3709314 C T SNP NUP98 NM_016320 human genbank 54_36p -1 reviewed missense c.1613 p.R538H 1 NULL "superfamily_SSF88633,HMMPfam_Nucleoporin2,superfamily_Peptidase_S59" - no_errors ODZ4 26011 hgsc.bcm.edu 36 11 78050282 78050282 + Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 78050282 78050282 C - DEL ODZ4 NM_001098816 human genbank 54_36p -1 validated frame_shift_del c.5425 p.V1809fs 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_TolB C-terminal domain,HMMPfam_NHL,HMMPfam_RHS_repeat" "(deletion:cds_exon[78050142,78050284])" no_errors OLFML1 283298 hgsc.bcm.edu 36 11 7466019 7466019 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 7466019 7466019 G T SNP OLFML1 NM_198474 human genbank 54_36p 1 provisional missense c.215 p.G72V 0.99 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors OPCML 4978 hgsc.bcm.edu 36 11 131811293 131811293 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 131811293 131811293 C T SNP OPCML NM_002545 human genbank 54_36p -1 reviewed missense c.834 p.M278I 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig" - no_errors OPCML 4978 hgsc.bcm.edu 36 11 131812378 131812378 + Silent SNP C C T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 131812378 131812378 C T SNP OPCML NM_002545 human genbank 54_36p -1 reviewed silent c.612 p.A204 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors OR10A6 390093 hgsc.bcm.edu 36 11 7906244 7906244 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 7906244 7906244 G T SNP OR10A6 NM_001004461 human genbank 54_36p -1 provisional missense c.542 p.T181N 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10W1 81341 hgsc.bcm.edu 36 11 57791172 57791172 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 57791172 57791172 G T SNP OR10W1 NM_207374 human genbank 54_36p -1 provisional nonsense c.735 p.C245* 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2D2 120776 hgsc.bcm.edu 36 11 6869840 6869840 + Silent SNP A A C novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 6869840 6869840 A C SNP OR2D2 NM_003700 human genbank 54_36p -1 provisional silent c.468 p.S156 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4C11 219429 hgsc.bcm.edu 36 11 55128035 55128035 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 55128035 55128035 G C SNP OR4C11 NM_001004700 human genbank 54_36p -1 provisional missense c.391 p.P131A 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51I1 390063 hgsc.bcm.edu 36 11 5418528 5418528 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 5418528 5418528 G A SNP OR51I1 NM_001005288 human genbank 54_36p -1 provisional missense c.793 p.R265C 0.08 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52N5 390075 hgsc.bcm.edu 36 11 5756228 5756228 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 5756228 5756228 A - DEL OR52N5 NM_001001922 human genbank 54_36p -1 provisional frame_shift_del c.213 p.F71fs 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[5755466,5756440])" no_errors OR56A4 120793 hgsc.bcm.edu 36 11 5980446 5980446 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 5980446 5980446 A T SNP OR56A4 NM_001005179 human genbank 54_36p -1 provisional missense c.509 p.F170Y 0.1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5B17 219965 hgsc.bcm.edu 36 11 57882755 57882755 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 57882755 57882755 C T SNP OR5B17 NM_001005489 human genbank 54_36p -1 provisional missense c.364 p.A122T 0.07 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B17 219965 hgsc.bcm.edu 36 11 57882931 57882931 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 57882931 57882931 T C SNP OR5B17 NM_001005489 human genbank 54_36p -1 provisional missense c.188 p.N63S 0.99 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5B2 390190 hgsc.bcm.edu 36 11 57946569 57946569 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 57946569 57946569 C T SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional missense c.742 p.V248I 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M1 390168 hgsc.bcm.edu 36 11 56137239 56137239 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 56137239 56137239 C T SNP OR5M1 NM_001004740 human genbank 54_36p -1 provisional missense c.316 p.A106T 0.26 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M9 390162 hgsc.bcm.edu 36 11 55986717 55986717 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 55986717 55986717 A T SNP OR5M9 NM_001004743 human genbank 54_36p -1 provisional missense c.737 p.V246D 0.97 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR6A2 8590 hgsc.bcm.edu 36 11 6773503 6773503 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 6773503 6773503 T C SNP OR6A2 NM_003696 human genbank 54_36p -1 provisional missense c.13 p.N5D 0.53 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6T1 219874 hgsc.bcm.edu 36 11 123319595 123319595 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 123319595 123319595 C T SNP OR6T1 NM_001005187 human genbank 54_36p -1 provisional missense c.161 p.R54H 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8B12 219858 hgsc.bcm.edu 36 11 123918150 123918150 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 123918150 123918150 A G SNP OR8B12 NM_001005195 human genbank 54_36p -1 provisional missense c.611 p.V204A 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8B2 26595 hgsc.bcm.edu 36 11 123758339 123758339 + Silent SNP G G T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 123758339 123758339 G T SNP OR8B2 NM_001005468 human genbank 54_36p -1 provisional silent c.111 p.V37 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8B4 283162 hgsc.bcm.edu 36 11 123799338 123799338 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 123799338 123799338 C A SNP OR8B4 NM_001005196 human genbank 54_36p -1 provisional missense c.640 p.V214F 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8D1 283159 hgsc.bcm.edu 36 11 123685530 123685530 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 123685530 123685530 G C SNP OR8D1 NM_001002917 human genbank 54_36p -1 provisional missense c.343 p.L115V 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8I2 120586 hgsc.bcm.edu 36 11 55617883 55617883 + Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 55617883 55617883 A - DEL OR8I2 NM_001003750 human genbank 54_36p 1 provisional frame_shift_del c.524 p.H175fs 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[55617360,55618292])" no_errors OR8K5 219453 hgsc.bcm.edu 36 11 55683671 55683671 + Silent SNP G G T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 55683671 55683671 G T SNP OR8K5 NM_001004058 human genbank 54_36p -1 validated silent c.699 p.G233 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8U1 219417 hgsc.bcm.edu 36 11 55899702 55899702 + Silent SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 55899702 55899702 G A SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional silent c.27 p.A9 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR9G4 283189 hgsc.bcm.edu 36 11 56267006 56267006 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 56267006 56267006 G C SNP OR9G4 NM_001005284 human genbank 54_36p -1 provisional missense c.858 p.D286E 0.48 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR9G4 283189 hgsc.bcm.edu 36 11 56267121 56267121 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 56267121 56267121 C T SNP OR9G4 NM_001005284 human genbank 54_36p -1 provisional missense c.743 p.G248E 0.2 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR9Q1 219956 hgsc.bcm.edu 36 11 57704181 57704181 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 57704181 57704181 C T SNP OR9Q1 NM_001005212 human genbank 54_36p 1 provisional missense c.689 p.A230V 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors P2RY2 5029 hgsc.bcm.edu 36 11 72623100 72623100 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 72623100 72623100 C T SNP P2RY2 NM_002564 human genbank 54_36p 1 reviewed missense c.248 p.A83V 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PAMR1 25891 hgsc.bcm.edu 36 11 35414034 35414034 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 35414034 35414034 G T SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated nonsense c.1377 p.C459* 1 "HMMSmart_CCP,superfamily_Complement_control_module,HMMPfam_Sushi" "HMMSmart_EGF,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" - no_errors PAX6 5080 hgsc.bcm.edu 36 11 31778935 31778935 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 31778935 31778935 G C SNP PAX6 NM_001604 human genbank 54_36p -1 reviewed missense c.445 p.Q149E 1 NULL "HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PC 5091 hgsc.bcm.edu 36 11 66396081 66396081 + Silent SNP C C G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 66396081 66396081 C G SNP PC NM_000920 human genbank 54_36p -1 reviewed silent c.126 p.V42 1 "HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like" ############################################################################################################################################################################################################################################################### - no_errors PCSK7 9159 hgsc.bcm.edu 36 11 116583912 116583912 + Silent SNP A A C rs596314 Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 116583912 116583912 A C SNP PCSK7 NM_004716 human genbank 54_36p -1 reviewed silent c.1770 p.L590 0.02 "superfamily_Gal_bind_like,HMMPfam_P_proprotein" "PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Gal_bind_like,HMMPfam_P_proprotein" - no_errors PDZD3 79849 hgsc.bcm.edu 36 11 118564416 118564417 + In_Frame_Ins INS - - TCATAA novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 118564416 118564417 - TCATAA INS PDZD3 NM_024791 human genbank 54_36p 1 provisional in_frame_ins c.963_964 p.CVS322in_frame_ins* 0.062:0.003 "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors PEX16 9409 hgsc.bcm.edu 36 11 45893650 45893650 + Silent SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 45893650 45893650 G T SNP PEX16 NM_057174 human genbank 54_36p -1 reviewed silent c.405 p.L135 1 HMMPfam_Pex16 HMMPfam_Pex16 - no_errors PGR 5241 hgsc.bcm.edu 36 11 100427471 100427471 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 100427471 100427471 T A SNP PGR NM_000926 human genbank 54_36p -1 reviewed missense c.2251 p.I751F 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMPfam_Prog_receptor,HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors PHF21A 51317 hgsc.bcm.edu 36 11 45924007 45924007 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 45924007 45924007 G T SNP PHF21A NM_001101802 human genbank 54_36p -1 validated missense c.1409 p.P470H 1 NULL "HMMPfam_AT_hook,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors PLEKHA7 144100 hgsc.bcm.edu 36 11 16849266 16849266 + Silent SNP C C T novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 16849266 16849266 C T SNP PLEKHA7 NM_175058 human genbank 54_36p -1 provisional silent c.261 p.T87 0.55 "superfamily_WW domain,HMMSmart_SM00456" "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PPFIA1 8500 hgsc.bcm.edu 36 11 69848644 69848644 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 69848644 69848644 G A SNP PPFIA1 NM_003626 human genbank 54_36p 1 reviewed missense c.410 p.R137Q 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPFIA1 8500 hgsc.bcm.edu 36 11 69898704 69898704 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 69898704 69898704 C T SNP PPFIA1 NM_003626 human genbank 54_36p 1 reviewed missense c.3172 p.R1058C 0.99 "HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" "HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" - no_errors PPP2R5B 5526 hgsc.bcm.edu 36 11 64455654 64455654 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 64455654 64455654 G A SNP PPP2R5B ENST00000359279 human ensembl 54_36p 1 known missense c.1069 p.G357R 1 NULL HMMPfam_B56 - no_start_codon PPP2R5B 5526 hgsc.bcm.edu 36 11 64455917 64455917 + Splice_Site SNP G G T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 64455917 64455917 G T SNP PPP2R5B NM_006244 human genbank 54_36p 1 reviewed splice_site c.1116+1 e10+1 1 - - - no_errors PSMC3 5702 hgsc.bcm.edu 36 11 47402832 47402832 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 47402832 47402832 C G SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed missense c.292 p.D98H 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors PYGM 5837 hgsc.bcm.edu 36 11 64279349 64279349 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 64279349 64279349 A G SNP PYGM NM_005609 human genbank 54_36p -1 validated missense c.827 p.I276T 1 "superfamily_SSF53756,HMMPfam_Phosphorylase" "superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE" - no_errors QSER1 79832 hgsc.bcm.edu 36 11 32936071 32936071 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 32936071 32936071 C A SNP QSER1 NM_001076786 human genbank 54_36p 1 provisional missense c.4445 p.S1482Y 0.99 NULL NULL - no_errors SIK3 23387 hgsc.bcm.edu 36 11 116235319 116235319 + Silent SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 116235319 116235319 G A SNP KIAA0999 NM_025164 human genbank 54_36p -1 validated silent c.2319 p.R773 0.72 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors RAG2 5897 hgsc.bcm.edu 36 11 36571142 36571142 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 36571142 36571142 A G SNP RAG2 NM_000536 human genbank 54_36p -1 reviewed missense c.1153 p.C385R 1 HMMPfam_RAG2 "HMMPfam_RAG2,PatternScan_PEROXIDASE_1" - no_errors RIC3 79608 hgsc.bcm.edu 36 11 8147016 8147016 + Frame_Shift_Del DEL G G - novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 8147016 8147016 G - DEL RIC3 NM_024557 human genbank 54_36p -1 validated frame_shift_del c.97 p.R33fs 1 NULL NULL "(deletion:cds_exon[8146989,8147112])" no_errors ARHGAP32 9743 hgsc.bcm.edu 36 11 128348122 128348122 + Silent SNP C C A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 128348122 128348122 C A SNP RICS NM_014715 human genbank 54_36p -1 validated silent c.2400 p.G800 0.11 NULL "superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors ARHGAP32 9743 hgsc.bcm.edu 36 11 128361112 128361112 + Missense_Mutation SNP A C C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A C C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 128361112 128361112 A C SNP RICS NM_014715 human genbank 54_36p -1 validated missense c.433 p.Y145D 1 "HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP" "HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP" - no_errors PPP6R3 55291 hgsc.bcm.edu 36 11 68061779 68061779 + Missense_Mutation SNP T T G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 68061779 68061779 T G SNP SAPS3 NM_018312 human genbank 54_36p 1 validated missense c.71 p.L24R 1 NULL HMMPfam_SAPS - no_errors SART1 9092 hgsc.bcm.edu 36 11 65501815 65501815 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 65501815 65501815 A G SNP SART1 NM_005146 human genbank 54_36p 1 reviewed missense c.2041 p.I681V 1 HMMPfam_SART-1 HMMPfam_SART-1 - no_errors SCUBE2 57758 hgsc.bcm.edu 36 11 9011822 9011822 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 9011822 9011822 A C SNP SCUBE2 NM_020974 human genbank 54_36p -1 provisional missense c.2013 p.C671W 1 "superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3" ############################################################################################################################################################################################################################################################### - no_errors SCYL1 57410 hgsc.bcm.edu 36 11 65060098 65060098 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 65060098 65060098 C G SNP SCYL1 NM_020680 human genbank 54_36p 1 reviewed missense c.1485 p.H495Q 1 superfamily_ARM repeat "superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,HMMPfam_HEAT" - no_errors SCYL1 57410 hgsc.bcm.edu 36 11 65062051 65062051 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 65062051 65062051 A G SNP SCYL1 NM_020680 human genbank 54_36p 1 reviewed missense c.2069 p.E690G 0.86 NULL "HMMPfam_HEAT,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" - no_errors SF1 7536 hgsc.bcm.edu 36 11 64294341 64294341 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 64294341 64294341 C G SNP SF1 NM_004630 human genbank 54_36p -1 validated missense c.352 p.A118P 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors SHANK2 22941 hgsc.bcm.edu 36 11 70009443 70009443 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 70009443 70009443 C A SNP SHANK2 NM_012309 human genbank 54_36p -1 reviewed missense c.2818 p.D940Y 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors SLC17A6 57084 hgsc.bcm.edu 36 11 22337562 22337562 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 22337562 22337562 C T SNP SLC17A6 NM_020346 human genbank 54_36p 1 validated silent c.486 p.T162 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SLC22A10 387775 hgsc.bcm.edu 36 11 62821382 62821382 + Silent SNP T T C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 62821382 62821382 T C SNP SLC22A10 NM_001039752 human genbank 54_36p 1 validated silent c.538 p.L180 0 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC5A12 159963 hgsc.bcm.edu 36 11 26661948 26661948 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 26661948 26661948 C T SNP SLC5A12 NM_178498 human genbank 54_36p -1 validated missense c.1240 p.G414S 1 NULL HMMPfam_SSF - no_errors SLC6A5 9152 hgsc.bcm.edu 36 11 20582513 20582513 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 20582513 20582513 A T SNP SLC6A5 NM_004211 human genbank 54_36p 1 validated missense c.646 p.R216W 1 "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1" "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2,PatternScan_ASP_GLU_RACEMASE_1" - no_errors SNX19 399979 hgsc.bcm.edu 36 11 130255845 130255845 + Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 130255845 130255845 A - DEL SNX19 NM_014758 human genbank 54_36p -1 validated frame_shift_del c.2640 p.Q881fs 1 HMMPfam_Nexin_C "HMMPfam_PXA,HMMSmart_SM00313,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_Nexin_C" "(deletion:cds_exon[130255727,130255911])" no_errors SPTBN2 6712 hgsc.bcm.edu 36 11 66214144 66214144 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 66214144 66214144 C A SNP SPTBN2 NM_006946 human genbank 54_36p -1 validated nonsense c.5752 p.E1918* 1 "HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors SRPR 6734 hgsc.bcm.edu 36 11 125642297 125642297 + Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 125642297 125642297 T - DEL SRPR NM_003139 human genbank 54_36p -1 provisional frame_shift_del c.509 p.K170fs 0.99 HMMPfam_SRP-alpha_N "HMMPfam_SRP-alpha_N,superfamily_SRP54,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_SRP54,PatternScan_SRP54" "(deletion:cds_exon[125642280,125642440])" no_errors SSRP1 6749 hgsc.bcm.edu 36 11 56851820 56851820 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 56851820 56851820 G A SNP SSRP1 NM_003146 human genbank 54_36p -1 reviewed missense c.1724 p.T575M 1 "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" "HMMPfam_SSrecog,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors STX3 6809 hgsc.bcm.edu 36 11 59311176 59311176 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 59311176 59311176 C A SNP STX3 NM_004177 human genbank 54_36p 1 provisional missense c.205 p.P69T 0.99 "HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin" "HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors STX5 6811 hgsc.bcm.edu 36 11 62355160 62355161 + Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 62355160 62355161 - G INS STX5 NM_003164 human genbank 54_36p -1 validated frame_shift_ins c.132_131 p.V45fs 0.940:0.981 NULL "superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors SYT7 9066 hgsc.bcm.edu 36 11 61042737 61042737 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 61042737 61042737 A T SNP SYT7 NM_004200 human genbank 54_36p -1 validated missense c.1150 p.W384R 1 "superfamily_C2_CaLB,HMMSmart_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYTL2 54843 hgsc.bcm.edu 36 11 85113015 85113015 + Silent SNP A A T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 85113015 85113015 A T SNP SYTL2 NM_206927 human genbank 54_36p -1 reviewed silent c.2133 p.T711 0.01 NULL "PatternScan_PHOSPHOPANTETHEINE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors TAF6L 10629 hgsc.bcm.edu 36 11 62299862 62299862 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 62299862 62299862 G A SNP TAF6L NM_006473 human genbank 54_36p 1 reviewed missense c.31 p.E11K 1 "superfamily_Histone-fold,HMMPfam_TAF,HMMSmart_SM00803" "superfamily_Histone-fold,HMMPfam_TAF,HMMSmart_SM00803,HMMPfam_DUF1546" - no_errors TMEM135 65084 hgsc.bcm.edu 36 11 86456441 86456441 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 86456441 86456441 G C SNP TMEM135 NM_022918 human genbank 54_36p 1 provisional missense c.199 p.E67Q 1 NULL NULL - no_errors TMEM136 219902 hgsc.bcm.edu 36 11 119703344 119703344 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 119703344 119703344 G A SNP TMEM136 NM_174926 human genbank 54_36p 1 provisional nonsense c.50 p.W17* 0.06 NULL HMMPfam_TRAM_LAG1_CLN8 - no_errors TMPRSS5 80975 hgsc.bcm.edu 36 11 113065743 113065743 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 113065743 113065743 T C SNP TMPRSS5 NM_030770 human genbank 54_36p -1 reviewed missense c.1313 p.Y438C 1 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_SRCR-like,PatternScan_SRCR_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TRIM21 6737 hgsc.bcm.edu 36 11 4364784 4364784 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 4364784 4364784 C G SNP TRIM21 NM_003141 human genbank 54_36p -1 reviewed missense c.748 p.V250L 0.73 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors TRIM68 55128 hgsc.bcm.edu 36 11 4578596 4578596 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 4578596 4578596 C T SNP TRIM68 NM_018073 human genbank 54_36p -1 reviewed missense c.944 p.R315H 0.02 HMMSmart_PRY "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors UBE4A 9354 hgsc.bcm.edu 36 11 117765790 117765790 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 117765790 117765790 C A SNP UBE4A NM_004788 human genbank 54_36p 1 reviewed missense c.2749 p.Q917K 1 HMMPfam_Ufd2P_core "HMMPfam_Ufd2P_core,HMMPfam_U-box,HMMSmart_SM00504,superfamily_RING/U-box" - no_errors UBE4A 9354 hgsc.bcm.edu 36 11 117766648 117766651 + Frame_Shift_Del DEL ACAG ACAG - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 ACAG ACAG . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 117766648 117766651 ACAG - DEL UBE4A NM_004788 human genbank 54_36p 1 reviewed frame_shift_del c.2856_2859 p.T954fs 0.989:1.000:1.000:1.000 HMMPfam_Ufd2P_core "HMMPfam_U-box,HMMSmart_SM00504,HMMPfam_Ufd2P_core,superfamily_RING/U-box" "(deletion:cds_exon[117766582,117766729])" no_errors UBQLN3 50613 hgsc.bcm.edu 36 11 5485474 5485474 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G C C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 5485474 5485474 G C SNP UBQLN3 NM_017481 human genbank 54_36p -1 reviewed missense c.1891 p.R631G 1 "superfamily_UBA_like,HMMSmart_UBA,HMMPfam_UBA" "PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin,HMMSmart_STI1,superfamily_UBA_like,HMMSmart_UBA,HMMPfam_UBA" - no_errors USP28 57646 hgsc.bcm.edu 36 11 113206856 113206856 + Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 113206856 113206856 C A SNP USP28 NM_020886 human genbank 54_36p -1 validated nonsense c.853 p.E285* 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_UBA-like,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_CPSASE_2" - no_errors USP35 57558 hgsc.bcm.edu 36 11 77598511 77598512 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 77598511 77598512 - A INS USP35 NM_020798 human genbank 54_36p 1 validated frame_shift_ins c.1962_1963 p.T654fs 0.000:0.000 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP47 55031 hgsc.bcm.edu 36 11 11920691 11920691 + Silent SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 11920691 11920691 G A SNP USP47 NM_017944 human genbank 54_36p 1 validated silent c.2343 p.V781 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors VSIG2 23584 hgsc.bcm.edu 36 11 124122712 124122712 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 124122712 124122712 C G SNP VSIG2 NM_014312 human genbank 54_36p -1 provisional missense c.913 p.G305R 0.07 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors VSIG2 23584 hgsc.bcm.edu 36 11 124123821 124123821 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 11 124123821 124123821 G A SNP VSIG2 NM_014312 human genbank 54_36p -1 provisional missense c.635 p.S212L 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors VWCE 220001 hgsc.bcm.edu 36 11 60810381 60810381 + Silent SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 60810381 60810381 G T SNP VWCE NM_152718 human genbank 54_36p -1 validated silent c.522 p.A174 0.96 "HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181" ############################################################################################################################################################################################################################################################### - no_errors WDR74 54663 hgsc.bcm.edu 36 11 62358533 62358533 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 62358533 62358533 G C SNP WDR74 NM_018093 human genbank 54_36p -1 validated missense c.661 p.L221V 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors WEE1 7465 hgsc.bcm.edu 36 11 9555328 9555328 + Silent SNP A A G novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 9555328 9555328 A G SNP WEE1 NM_003390 human genbank 54_36p 1 reviewed silent c.1083 p.R361 0.92 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors WNT11 7481 hgsc.bcm.edu 36 11 75575791 75575791 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 75575791 75575791 C T SNP WNT11 NM_004626 human genbank 54_36p -1 reviewed missense c.1031 p.C344Y 0.99 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT11 7481 hgsc.bcm.edu 36 11 75575791 75575791 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 75575791 75575791 C T SNP WNT11 NM_004626 human genbank 54_36p -1 reviewed missense c.1031 p.C344Y 0.99 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors ZBTB16 7704 hgsc.bcm.edu 36 11 113439427 113439427 + Silent SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 11 113439427 113439427 C T SNP ZBTB16 NM_001018011 human genbank 54_36p 1 reviewed silent c.195 p.R65 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors ZDHHC24 254359 hgsc.bcm.edu 36 11 66067851 66067851 + Silent SNP G G T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 66067851 66067851 G T SNP ZDHHC24 NM_207340 human genbank 54_36p -1 provisional silent c.459 p.V153 0.65 NULL HMMPfam_zf-DHHC - no_errors ZW10 9183 hgsc.bcm.edu 36 11 113115315 113115315 + Splice_Site SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 113115315 113115315 C G SNP ZW10 NM_004724 human genbank 54_36p -1 reviewed splice_site c.1584-1 e12-1 1 - - - no_errors hCG_1646420 644672 hgsc.bcm.edu 36 11 113155760 113155761 + Frame_Shift_Ins INS - - G novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 113155760 113155761 - G INS LOC644672 NM_001101389 human genbank 54_36p 1 inferred frame_shift_ins c.33_34 p.L13fs 0.242:0.869 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors A2M 2 hgsc.bcm.edu 36 12 9121687 9121687 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 9121687 9121687 T G SNP A2M NM_000014 human genbank 54_36p -1 reviewed missense c.3153 p.Q1051H 0.99 "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp" ############################################################################################################################################################################################################################################################### - no_errors ABCD2 225 hgsc.bcm.edu 36 12 38266235 38266235 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 38266235 38266235 A T SNP ABCD2 NM_005164 human genbank 54_36p -1 reviewed missense c.1778 p.V593D 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "HMMPfam_ABC_membrane_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCD2 225 hgsc.bcm.edu 36 12 38284054 38284054 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 T T C T T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 38284054 38284054 T C SNP ABCD2 NM_005164 human genbank 54_36p -1 reviewed missense c.1427 p.H476R 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,HMMPfam_ABC_membrane_2,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ACACB 32 hgsc.bcm.edu 36 12 108107791 108107791 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 108107791 108107791 C T SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.1843 p.R615W 1 "superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2" ############################################################################################################################################################################################################################################################### - no_errors ACACB 32 hgsc.bcm.edu 36 12 108156007 108156007 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 108156007 108156007 C T SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.4211 p.T1404I 0.01 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors ACAD10 80724 hgsc.bcm.edu 36 12 110677862 110677862 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 110677862 110677862 C T SNP ACAD10 NM_025247 human genbank 54_36p 1 reviewed missense c.2969 p.A990V 0.89 "HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like" ############################################################################################################################################################################################################################################################### - no_errors ACSS3 79611 hgsc.bcm.edu 36 12 80137972 80137972 + Silent SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 80137972 80137972 A G SNP ACSS3 NM_024560 human genbank 54_36p 1 validated silent c.1500 p.G500 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ADAMTS20 80070 hgsc.bcm.edu 36 12 42182410 42182421 + In_Frame_Del DEL CATTAAGATCTT CATTAAGATCTT - novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 CATTAAGATCTT CATTAAGATCTT CATTAAGATCTT - CATTAAGATCTT CATTAAGATCTT Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 42182410 42182421 CATTAAGATCTT - DEL ADAMTS20 NM_025003 human genbank 54_36p -1 validated in_frame_del c.679_668 p.EDLN223in_frame_del 0.000:0.000:0.008:0.006:0.004:0.004:0.009:0.055:0.110:0.111:0.109:0.093 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" "(deletion:cds_exon[42182222,42182475])" no_errors ALDH2 217 hgsc.bcm.edu 36 12 110714309 110714310 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 110714309 110714310 - G INS ALDH2 NM_000690 human genbank 54_36p 1 reviewed frame_shift_ins c.857_858 p.K289fs 1.000:0.998 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU" "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors AMHR2 269 hgsc.bcm.edu 36 12 52105797 52105797 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 52105797 52105797 G C SNP AMHR2 NM_020547 human genbank 54_36p 1 validated missense c.679 p.V227L 0.92 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" "superfamily_Snake toxin-like,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" - no_errors AMIGO2 347902 hgsc.bcm.edu 36 12 45758633 45758633 + Silent SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 45758633 45758633 C T SNP AMIGO2 NM_181847 human genbank 54_36p -1 validated silent c.420 p.L140 0.98 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors ANKRD52 283373 hgsc.bcm.edu 36 12 54933797 54933797 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 54933797 54933797 G A SNP ANKRD52 NM_173595 human genbank 54_36p -1 validated missense c.961 p.R321C 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "HMMSmart_ANK,HMMPfam_Ank,superfamily_ANK" - no_errors ANO4 121601 hgsc.bcm.edu 36 12 100001650 100001650 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 100001650 100001650 G C SNP ANO4 NM_178826 human genbank 54_36p 1 validated missense c.1354 p.G452R 1 NULL HMMPfam_DUF590 - no_errors ANO4 121601 hgsc.bcm.edu 36 12 100029480 100029480 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 100029480 100029480 T C SNP ANO4 NM_178826 human genbank 54_36p 1 validated missense c.2206 p.Y736H 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors ANO6 196527 hgsc.bcm.edu 36 12 44096836 44096836 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 44096836 44096836 G C SNP ANO6 NM_001025356 human genbank 54_36p 1 validated missense c.2099 p.R700T 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors APAF1 317 hgsc.bcm.edu 36 12 97585494 97585494 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 97585494 97585494 G A SNP APAF1 NM_181861 human genbank 54_36p 1 reviewed missense c.1435 p.D479N 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMPfam_CARD,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NB-ARC,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ARID2 196528 hgsc.bcm.edu 36 12 44530469 44530469 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 44530469 44530469 C T SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.2296 p.P766S 1 NULL "HMMPfam_ARID,superfamily_ARID-like,HMMSmart_SM00501,superfamily_Winged helix DNA-binding domain,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARID2 196528 hgsc.bcm.edu 36 12 44530530 44530530 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 44530530 44530530 G C SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.2357 p.G786A 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Winged helix DNA-binding domain" - no_errors AVIL 10677 hgsc.bcm.edu 36 12 56487699 56487699 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 56487699 56487699 G T SNP AVIL NM_006576 human genbank 54_36p -1 reviewed missense c.1273 p.L425M 1 "superfamily_C-terminal gelsolin-like domain of Sec23/24,superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin" "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_C-terminal gelsolin-like domain of Sec23/24,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors BBS10 79738 hgsc.bcm.edu 36 12 75264523 75264523 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 75264523 75264523 G C SNP BBS10 NM_024685 human genbank 54_36p -1 validated missense c.1373 p.P458R 0 superfamily_GroEL-ATPase "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1" - no_errors BCL7A 605 hgsc.bcm.edu 36 12 120977237 120977237 + Silent SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 120977237 120977237 A C SNP BCL7A NM_020993 human genbank 54_36p 1 reviewed silent c.583 p.R195 0 NULL HMMPfam_BCL_N - no_errors C12orf10 60314 hgsc.bcm.edu 36 12 51980231 51980231 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 51980231 51980231 G A SNP C12orf10 NM_021640 human genbank 54_36p 1 validated missense c.247 p.E83K 0 HMMPfam_UPF0160 HMMPfam_UPF0160 - no_errors C12orf10 60314 hgsc.bcm.edu 36 12 51986779 51986779 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 51986779 51986779 T A SNP C12orf10 NM_021640 human genbank 54_36p 1 validated missense c.814 p.W272R 1 HMMPfam_UPF0160 HMMPfam_UPF0160 - no_errors C12orf41 54934 hgsc.bcm.edu 36 12 47359151 47359151 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 47359151 47359151 C G SNP C12orf41 NM_017822 human genbank 54_36p -1 validated missense c.480 p.Q160H 1 NULL NULL - no_errors C12orf63 374467 hgsc.bcm.edu 36 12 95674375 95674375 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 95674375 95674375 G C SNP C12orf63 NM_198520 human genbank 54_36p 1 validated missense c.3124 p.E1042Q 1 NULL NULL - no_errors C1QL4 338761 hgsc.bcm.edu 36 12 48013235 48013236 + Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 48013235 48013236 - TT INS C1QL4 NM_001008223 human genbank 54_36p -1 provisional frame_shift_ins c.586_585 p.A195fs 1.000:0.997 "HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q" "HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q" - no_errors C3AR1 719 hgsc.bcm.edu 36 12 8103788 8103788 + Silent SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 8103788 8103788 C T SNP C3AR1 NM_004054 human genbank 54_36p -1 validated silent c.261 p.Q87 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CACNA1C 775 hgsc.bcm.edu 36 12 2631107 2631107 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 2631107 2631107 G T SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.3986 p.R1329L 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CASC1 55259 hgsc.bcm.edu 36 12 25188836 25188836 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 25188836 25188836 C A SNP CASC1 NM_018272 human genbank 54_36p -1 validated missense c.732 p.E244D 0.46 NULL NULL - no_errors CCDC64 92558 hgsc.bcm.edu 36 12 118920788 118920788 + Silent SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 118920788 118920788 G A SNP CCDC64 NM_207311 human genbank 54_36p 1 validated silent c.510 p.L170 1 NULL NULL - no_errors CCNT1 904 hgsc.bcm.edu 36 12 47379887 47379887 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 47379887 47379887 A C SNP CCNT1 NM_001240 human genbank 54_36p -1 reviewed missense c.437 p.F146C 1 "superfamily_Cyclin_like,HMMPfam_Cyclin_N" "PatternScan_CYCLINS,superfamily_Cyclin_like,HMMPfam_Cyclin_N,HMMSmart_CYCLIN" - no_errors CD163 9332 hgsc.bcm.edu 36 12 7527277 7527277 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 7527277 7527277 C T SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.3041 p.G1014D 0.98 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CD163 9332 hgsc.bcm.edu 36 12 7545208 7545208 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 7545208 7545208 G C SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.251 p.A84G 0.01 "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD63 967 hgsc.bcm.edu 36 12 54406845 54406845 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 54406845 54406845 A G SNP CD63 NM_001780 human genbank 54_36p -1 reviewed missense c.332 p.V111A 0.84 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors CELA1 1990 hgsc.bcm.edu 36 12 50009865 50009866 + Frame_Shift_Ins INS - - G rs17860363 Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 50009865 50009866 - G INS ELA1 NM_001971 human genbank 54_36p -1 reviewed frame_shift_ins c.629_628 p.L210fs 1.000:0.972 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors CHD4 1108 hgsc.bcm.edu 36 12 6574788 6574788 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 6574788 6574788 C A SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.2094 p.E698D 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases ############################################################################################################################################################################################################################################################### - no_errors CHD4 1108 hgsc.bcm.edu 36 12 6575524 6575524 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 6575524 6575524 G C SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.1933 p.R645G 1 "HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors CHD4 1108 hgsc.bcm.edu 36 12 6580815 6580815 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 6580815 6580815 C A SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.700 p.V234L 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors CIT 11113 hgsc.bcm.edu 36 12 118683234 118683234 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 118683234 118683234 G C SNP CIT NM_007174 human genbank 54_36p -1 validated missense c.2187 p.D729E 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CLEC4C 170482 hgsc.bcm.edu 36 12 7785372 7785372 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 7785372 7785372 G C SNP CLEC4C NM_130441 human genbank 54_36p -1 reviewed missense c.147 p.S49R 0.01 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors DDIT3 1649 hgsc.bcm.edu 36 12 56197026 56197026 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 56197026 56197026 C T SNP DDIT3 NM_004083 human genbank 54_36p -1 validated missense c.343 p.A115T 1 "HMMSmart_SM00338,HMMPfam_bZIP_2" "HMMSmart_SM00338,HMMPfam_bZIP_2" - no_errors DDX54 79039 hgsc.bcm.edu 36 12 112084116 112084116 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 112084116 112084116 G T SNP DDX54 NM_024072 human genbank 54_36p -1 reviewed missense c.2265 p.S755R 1 HMMPfam_DBP10CT "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DBP10CT" - no_errors DDX54 79039 hgsc.bcm.edu 36 12 112085228 112085228 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 112085228 112085228 C - DEL DDX54 NM_024072 human genbank 54_36p -1 reviewed frame_shift_del c.2087 p.S696fs 1 NULL "PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_DEAD,HMMPfam_DBP10CT,HMMSmart_DEXDc,superfamily_SSF52540" "(deletion:cds_exon[112085120,112085233])" no_errors DDX55 57696 hgsc.bcm.edu 36 12 122656610 122656610 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 122656610 122656610 C G SNP DDX55 NM_020936 human genbank 54_36p 1 reviewed missense c.197 p.P66R 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors DENND5B 160518 hgsc.bcm.edu 36 12 31433568 31433568 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 31433568 31433568 C A SNP DENND5B NM_144973 human genbank 54_36p -1 validated missense c.3598 p.G1200W 1 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT" - no_errors DIP2B 57609 hgsc.bcm.edu 36 12 49360789 49360789 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 49360789 49360789 A T SNP DIP2B NM_173602 human genbank 54_36p 1 validated missense c.1182 p.E394D 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "HMMPfam_DMAP_binding,superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" - no_errors DIP2B 57609 hgsc.bcm.edu 36 12 49384188 49384188 + Splice_Site SNP A A T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 49384188 49384188 A T SNP DIP2B NM_173602 human genbank 54_36p 1 validated splice_site c.2326-2 e20-2 1 - - - no_errors DNAH10 196385 hgsc.bcm.edu 36 12 122981851 122981851 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 122981851 122981851 G - DEL DNAH10 ENST00000409039 human ensembl 54_36p 1 known frame_shift_del c.12441 p.A4148fs 1 HMMPfam_Dynein_heavy "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" "(deletion:cds_exon[122981841,122981972])" no_errors DNAJC14 85406 hgsc.bcm.edu 36 12 54502086 54502086 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 54502086 54502086 G A SNP DNAJC14 NM_032364 human genbank 54_36p -1 validated missense c.2051 p.P684L 1 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ" - no_errors E2F7 144455 hgsc.bcm.edu 36 12 75968547 75968547 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 75968547 75968547 T G SNP E2F7 NM_203394 human genbank 54_36p -1 validated missense c.478 p.S160R 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_E2F_TDP" "superfamily_Winged helix DNA-binding domain,HMMPfam_E2F_TDP" - no_errors EEA1 8411 hgsc.bcm.edu 36 12 91697092 91697092 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 91697092 91697092 A G SNP EEA1 NM_003566 human genbank 54_36p -1 validated missense c.3584 p.I1195T 0.2 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors EP400 57634 hgsc.bcm.edu 36 12 131068798 131068798 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 131068798 131068798 C T SNP EP400 NM_015409 human genbank 54_36p 1 validated missense c.4198 p.R1400W 0.92 NULL "HMMPfam_HSA,HMMSmart_HSA,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,superfamily_Homeodomain_like" - no_errors FAM186B 84070 hgsc.bcm.edu 36 12 48283334 48283334 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 48283334 48283334 T C SNP FAM186B NM_032130 human genbank 54_36p -1 predicted missense c.406 p.K136E 0.34 NULL NULL - no_errors ESYT1 23344 hgsc.bcm.edu 36 12 54808606 54808606 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 54808606 54808606 G T SNP FAM62A NM_015292 human genbank 54_36p 1 provisional missense c.236 p.G79V 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FGD6 55785 hgsc.bcm.edu 36 12 94090529 94090529 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 94090529 94090529 G T SNP FGD6 NM_018351 human genbank 54_36p -1 validated missense c.2564 p.P855H 0.68 superfamily_DBL homology domain (DH-domain) "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1" - no_errors FGF6 2251 hgsc.bcm.edu 36 12 4424771 4424771 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 4424771 4424771 C A SNP FGF6 NM_020996 human genbank 54_36p -1 reviewed missense c.227 p.S76I 0.99 NULL "superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors FMNL3 91010 hgsc.bcm.edu 36 12 48333864 48333864 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 48333864 48333864 C T SNP FMNL3 NM_175736 human genbank 54_36p -1 validated missense c.1132 p.V378M 1 HMMPfam_Drf_FH3 "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors FOXN4 121643 hgsc.bcm.edu 36 12 108202085 108202085 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 108202085 108202085 A T SNP FOXN4 NM_213596 human genbank 54_36p -1 validated missense c.788 p.F263Y 1 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors GDF3 9573 hgsc.bcm.edu 36 12 7739486 7739486 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 7739486 7739486 C - DEL GDF3 NM_020634 human genbank 54_36p -1 reviewed frame_shift_del c.106 p.D36fs 0.05 NULL "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" "(deletion:cds_exon[7739324,7739591])" no_errors GLI1 2735 hgsc.bcm.edu 36 12 56144865 56144865 + Silent SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 56144865 56144865 G A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed silent c.336 p.S112 0.98 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GLI1 2735 hgsc.bcm.edu 36 12 56144873 56144873 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 56144873 56144873 C T SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.344 p.T115I 0.99 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors GLI1 2735 hgsc.bcm.edu 36 12 56152069 56152069 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 56152069 56152069 A T SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.3279 p.R1093S 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors GLT8D2 83468 hgsc.bcm.edu 36 12 102921214 102921214 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 102921214 102921214 T G SNP GLT8D2 NM_031302 human genbank 54_36p -1 provisional missense c.113 p.D38A 0.91 NULL "superfamily_SSF53448,HMMPfam_Glyco_transf_8" - no_errors GPR162 27239 hgsc.bcm.edu 36 12 6804977 6804977 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 6804977 6804977 G A SNP GPR162 NM_019858 human genbank 54_36p 1 reviewed missense c.935 p.C312Y 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR19 2842 hgsc.bcm.edu 36 12 12705437 12705437 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 12705437 12705437 G C SNP GPR19 NM_006143 human genbank 54_36p -1 validated missense c.1213 p.P405A 1 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GRIN2B 2904 hgsc.bcm.edu 36 12 13614102 13614102 + Missense_Mutation SNP C A A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 13614102 13614102 C A SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.2288 p.G763V 1 "superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan" "superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C" - no_errors GRIN2B 2904 hgsc.bcm.edu 36 12 13659413 13659413 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 13659413 13659413 C T SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.1556 p.R519Q 1 "HMMSmart_PBPe,superfamily_SSF53850" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_NMDAR2_C,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850" - no_errors GUCY2C 2984 hgsc.bcm.edu 36 12 14685296 14685296 + Silent SNP A A G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 14685296 14685296 A G SNP GUCY2C NM_004963 human genbank 54_36p -1 validated silent c.2055 p.C685 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors GUCY2C 2984 hgsc.bcm.edu 36 12 14685306 14685306 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 14685306 14685306 G A SNP GUCY2C NM_004963 human genbank 54_36p -1 validated missense c.2045 p.T682I 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors HCFC2 29915 hgsc.bcm.edu 36 12 102997488 102997488 + Silent SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 102997488 102997488 T C SNP HCFC2 NM_013320 human genbank 54_36p 1 reviewed silent c.609 p.S203 0.98 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2" "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors HDAC7 51564 hgsc.bcm.edu 36 12 46466668 46466668 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 46466668 46466668 C T SNP HDAC7 NM_001098416 human genbank 54_36p -1 reviewed missense c.2428 p.A810T 0.02 "superfamily_SSF52768,HMMPfam_Hist_deacetyl" "superfamily_SSF52768,HMMPfam_Hist_deacetyl" - no_errors HIP1R 9026 hgsc.bcm.edu 36 12 121906808 121906808 + Silent SNP T T C novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 121906808 121906808 T C SNP HIP1R NM_003959 human genbank 54_36p 1 validated silent c.1365 p.S455 0.15 NULL "HMMPfam_ANTH,superfamily_ENTH_VHS,HMMSmart_ENTH,superfamily_SSF109885,HMMSmart_ILWEQ,HMMPfam_I_LWEQ" - no_errors HIST4H4 121504 hgsc.bcm.edu 36 12 14815177 14815177 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 14815177 14815177 G A SNP HIST4H4 NM_175054 human genbank 54_36p -1 reviewed missense c.109 p.R37C 1 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HNF1A 6927 hgsc.bcm.edu 36 12 119921766 119921766 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 119921766 119921766 G A SNP HNF1A NM_000545 human genbank 54_36p 1 reviewed missense c.1721 p.S574N 0.09 HMMPfam_HNF-1A_C "superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C,HMMPfam_HNF-1A_C" - no_errors HSP90B1 7184 hgsc.bcm.edu 36 12 102848445 102848445 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 102848445 102848445 G C SNP HSP90B1 NM_003299 human genbank 54_36p 1 provisional missense c.22 p.G8R 1 NULL "superfamily_ATP_bd_ATPase,PatternScan_HSP90,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF110942,PatternScan_ER_TARGET" - no_errors IFFO1 25900 hgsc.bcm.edu 36 12 6530377 6530390 + Frame_Shift_Del DEL CTCATTTACACGGT CTCATTTACACGGT - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 CTCATTTACACGGT CTCATTTACACGGT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 6530377 6530390 CTCATTTACACGGT - DEL IFFO1 NM_001039670 human genbank 54_36p -1 validated frame_shift_del c.825_812 p.D271fs 1.000:1.000:0.991:0.019:0.022:0.039:0.051:0.985:0.997:0.998:1.000:1.000:0.998:1.000 NULL PatternScan_LECTIN_LEGUME_BETA "(deletion:cds_exon[6530368,6530428])" no_errors IGFBP6 3489 hgsc.bcm.edu 36 12 51781191 51781191 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 51781191 51781191 G T SNP IGFBP6 NM_002178 human genbank 54_36p 1 validated missense c.580 p.G194C 0.98 "superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY" "PatternScan_IGFBP_N_1,HMMSmart_IB,HMMPfam_IGFBP,superfamily_Grow_fac_recept,superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY" - no_errors IRAK3 11213 hgsc.bcm.edu 36 12 64924587 64924587 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 64924587 64924587 G T SNP IRAK3 NM_007199 human genbank 54_36p 1 validated missense c.942 p.M314I 0.91 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" - no_errors IRAK3 11213 hgsc.bcm.edu 36 12 64925256 64925256 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T G G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 64925256 64925256 T G SNP IRAK3 NM_007199 human genbank 54_36p 1 validated missense c.1261 p.L421V 0.28 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" "HMMPfam_Death,HMMSmart_SM00005,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_DEATH domain,HMMPfam_Pkinase" - no_errors ITGB7 3695 hgsc.bcm.edu 36 12 51871969 51871969 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 51871969 51871969 A G SNP ITGB7 NM_000889 human genbank 54_36p -1 provisional missense c.2257 p.Y753H 1 HMMPfam_Integrin_b_cyt ############################################################################################################################################################################################################################################################### - no_errors ITPR2 3709 hgsc.bcm.edu 36 12 26726809 26726809 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 26726809 26726809 T C SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.1213 p.I405V 1 "HMMPfam_MIR,superfamily_MIR domain (Pfam 02815)" "HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors KCNA1 3736 hgsc.bcm.edu 36 12 4891330 4891330 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 4891330 4891330 G A SNP KCNA1 NM_000217 human genbank 54_36p 1 reviewed missense c.525 p.M175I 1 superfamily_SSF81324 "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA5 3741 hgsc.bcm.edu 36 12 5024994 5024995 + Frame_Shift_Del DEL GC GC - novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 GC GC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 5024994 5024995 GC - DEL KCNA5 NM_002234 human genbank 54_36p 1 reviewed frame_shift_del c.1420_1421 p.A474fs 1.000:1.000 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "(deletion:cds_exon[5023575,5025416])" no_errors KCNA6 3742 hgsc.bcm.edu 36 12 4789756 4789757 + Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 4789756 4789757 - A INS KCNA6 NM_002235 human genbank 54_36p 1 reviewed frame_shift_ins c.288_289 p.L96fs 1.000:1.000 "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA6 3742 hgsc.bcm.edu 36 12 4789939 4789940 + Frame_Shift_Del DEL GC GC - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 GC GC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 4789939 4789940 GC - DEL KCNA6 NM_002235 human genbank 54_36p 1 reviewed frame_shift_del c.471_472 p.R158fs 1.000:1.000 NULL "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" "(deletion:cds_exon[4789469,4791058])" no_errors KCNA6 3742 hgsc.bcm.edu 36 12 4790267 4790267 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 4790267 4790267 G C SNP KCNA6 NM_002235 human genbank 54_36p 1 reviewed missense c.799 p.E267Q 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KIAA1467 57613 hgsc.bcm.edu 36 12 13112649 13112649 + Splice_Site SNP G G C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 13112649 13112649 G C SNP KIAA1467 NM_020853 human genbank 54_36p 1 validated splice_site c.1286+1 e8+1 1 - - - no_errors SRRM4 84530 hgsc.bcm.edu 36 12 118067871 118067872 + Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 118067871 118067872 - C INS KIAA1853 NM_194286 human genbank 54_36p 1 validated frame_shift_ins c.1074_1075 p.R358fs 0.953:0.998 NULL NULL - no_errors KIF5A 3798 hgsc.bcm.edu 36 12 56261522 56261522 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 56261522 56261522 C G SNP KIF5A NM_004984 human genbank 54_36p 1 reviewed missense c.2813 p.T938S 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_Prefoldin" - no_errors KLHDC5 57542 hgsc.bcm.edu 36 12 27835958 27835958 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 27835958 27835958 G A SNP KLHDC5 NM_020782 human genbank 54_36p 1 validated missense c.923 p.G308E 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors KLRC2 3822 hgsc.bcm.edu 36 12 10479729 10479729 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 10479729 10479729 C A SNP KLRC2 NM_002260 human genbank 54_36p -1 reviewed nonsense c.124 p.E42* 0.01 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" - no_errors KNTC1 9735 hgsc.bcm.edu 36 12 121613140 121613140 + Silent SNP G G A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 121613140 121613140 G A SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed silent c.1545 p.V515 0.99 NULL "HMMPfam_Rod_C,PatternScan_BZIP_BASIC" - no_errors KNTC1 9735 hgsc.bcm.edu 36 12 121623725 121623726 + Frame_Shift_Del DEL AA AA - novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 121623725 121623726 AA - DEL KNTC1 NM_014708 human genbank 54_36p 1 reviewed frame_shift_del c.2223_2224 p.I741fs 0.002:0.045 NULL "PatternScan_BZIP_BASIC,HMMPfam_Rod_C" "(deletion:cds_exon[121623642,121623785])" no_errors KRT6A 3853 hgsc.bcm.edu 36 12 51168594 51168594 + Silent SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 51168594 51168594 G A SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed silent c.1209 p.A403 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6B 3854 hgsc.bcm.edu 36 12 51130513 51130513 + Silent SNP A A G rs28542657 Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 51130513 51130513 A G SNP KRT6B NM_005555 human genbank 54_36p -1 reviewed silent c.699 p.G233 0 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT77 374454 hgsc.bcm.edu 36 12 51383082 51383082 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C G G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 51383082 51383082 C G SNP KRT77 NM_175078 human genbank 54_36p -1 validated missense c.404 p.G135A 0.99 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT85 3891 hgsc.bcm.edu 36 12 51047407 51047408 + Frame_Shift_Del DEL TT TT - novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 TT TT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 51047407 51047408 TT - DEL KRT85 NM_002283 human genbank 54_36p -1 reviewed frame_shift_del c.50_49 p.N17fs 0.056:0.048 NULL "HMMPfam_Filament,PatternScan_IF" "(deletion:cds_exon[51047037,51047456])" no_errors LEMD3 23592 hgsc.bcm.edu 36 12 63850524 63850525 + Frame_Shift_Ins INS - - C novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 63850524 63850525 - C INS LEMD3 NM_014319 human genbank 54_36p 1 validated frame_shift_ins c.881_882 p.L297fs 0.003:0.001 NULL "HMMPfam_LEM,HMMSmart_LEM,superfamily_LEM_like,HMMPfam_MAN1_C,superfamily_SSF54928" - no_errors LEMD3 23592 hgsc.bcm.edu 36 12 63921033 63921033 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 63921033 63921033 G A SNP LEMD3 NM_014319 human genbank 54_36p 1 validated missense c.2204 p.R735Q 1 HMMPfam_MAN1_C "HMMPfam_LEM,HMMSmart_LEM,superfamily_LEM_like,HMMPfam_MAN1_C,superfamily_SSF54928" - no_errors LRP1 4035 hgsc.bcm.edu 36 12 55838612 55838612 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 55838612 55838612 C A SNP LRP1 NM_002332 human genbank 54_36p 1 validated nonsense c.1722 p.Y574* 1 "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b" ############################################################################################################################################################################################################################################################### - no_errors LRP1 4035 hgsc.bcm.edu 36 12 55857204 55857204 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 55857204 55857204 G A SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.4105 p.E1369K 1 "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain" ############################################################################################################################################################################################################################################################### - no_errors LRP1 4035 hgsc.bcm.edu 36 12 55864460 55864460 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C G C C Unknown Valid Somatic Phase_IV Capture SOLID SOLID 12 55864460 55864460 C G SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.6144 p.N2048K 0.75 "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain" ############################################################################################################################################################################################################################################################### - no_errors LRP1 4035 hgsc.bcm.edu 36 12 55889230 55889230 + Silent SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 55889230 55889230 G T SNP LRP1 NM_002332 human genbank 54_36p 1 validated silent c.12243 p.V4081 1 "HMMPfam_Ldl_recept_b,superfamily_YWTD domain" ############################################################################################################################################################################################################################################################### - no_errors LRP1 4035 hgsc.bcm.edu 36 12 55891256 55891256 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 55891256 55891256 G T SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.12947 p.G4316V 0.86 "HMMSmart_SM00181,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors LRRK2 120892 hgsc.bcm.edu 36 12 38985901 38985901 + Silent SNP C C G novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 38985901 38985901 C G SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed silent c.3825 p.V1275 0.71 "superfamily_SSF52058,HMMPfam_LRR_1" "superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2" - no_errors MED13L 23389 hgsc.bcm.edu 36 12 114891260 114891260 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 114891260 114891260 G C SNP MED13L NM_015335 human genbank 54_36p -1 validated missense c.6093 p.F2031L 1 NULL HMMPfam_TRAP_240kDa - no_errors MED13L 23389 hgsc.bcm.edu 36 12 114906387 114906387 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 114906387 114906387 T G SNP MED13L NM_015335 human genbank 54_36p -1 validated missense c.4512 p.Q1504H 1 HMMPfam_TRAP_240kDa HMMPfam_TRAP_240kDa - no_errors MGAT4C 25834 hgsc.bcm.edu 36 12 84897953 84897953 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 84897953 84897953 G A SNP MGAT4C NM_013244 human genbank 54_36p -1 validated nonsense c.682 p.R228* 1 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors MLEC 9761 hgsc.bcm.edu 36 12 119618610 119618610 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 119618610 119618610 G C SNP MLEC NM_014730 human genbank 54_36p 1 validated missense c.758 p.R253P 1 NULL NULL - no_errors MLL2 8085 hgsc.bcm.edu 36 12 47711527 47711527 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 47711527 47711527 C A SNP MLL2 NM_003482 human genbank 54_36p -1 validated missense c.13228 p.A4410S 0.11 NULL ############################################################################################################################################################################################################################################################### - no_errors MUC19 283463 hgsc.bcm.edu 36 12 39108069 39108069 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 39108069 39108069 G A SNP MUC19 XM_497341 human genbank 54_36p 1 model missense c.551 p.G184E 0.76 "superfamily_Serine proterase inhibitors,HMMPfam_TIL" "HMMPfam_VWD,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_C8,superfamily_PMP inhibitors" - no_errors MYBPC1 4604 hgsc.bcm.edu 36 12 100595261 100595261 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 100595261 100595261 G C SNP MYBPC1 NM_002465 human genbank 54_36p 1 validated missense c.3067 p.D1023H 1 superfamily_Fibronectin type III "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors MYO1A 4640 hgsc.bcm.edu 36 12 55717073 55717073 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 55717073 55717073 G A SNP MYO1A NM_005379 human genbank 54_36p -1 reviewed nonsense c.2125 p.R709* 1 "superfamily_SSF52540,HMMSmart_IQ,HMMPfam_IQ" "HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_TH1" - no_errors MYO1A 4640 hgsc.bcm.edu 36 12 55717626 55717626 + Silent SNP T T A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 55717626 55717626 T A SNP MYO1A NM_005379 human genbank 54_36p -1 reviewed silent c.2028 p.T676 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_TH1,superfamily_SSF52540" - no_errors NAV3 89795 hgsc.bcm.edu 36 12 77037330 77037330 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T T C T T Unknown Valid Somatic Phase_IV Capture SOLID SOLID 12 77037330 77037330 T C SNP NAV3 NM_014903 human genbank 54_36p 1 validated missense c.3223 p.S1075P 0.78 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors NCAPD2 9918 hgsc.bcm.edu 36 12 6505552 6505552 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 6505552 6505552 T G SNP NCAPD2 NM_014865 human genbank 54_36p 1 validated missense c.2406 p.D802E 0.04 superfamily_ARM repeat superfamily_ARM repeat - no_errors NCKAP1L 3071 hgsc.bcm.edu 36 12 53179515 53179515 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 53179515 53179515 C T SNP NCKAP1L NM_005337 human genbank 54_36p 1 reviewed missense c.212 p.T71M 1 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors NCOR2 9612 hgsc.bcm.edu 36 12 123405987 123405990 + Frame_Shift_Del DEL TGAG TGAG - novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 TGAG TGAG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 123405987 123405990 TGAG - DEL NCOR2 NM_006312 human genbank 54_36p -1 validated frame_shift_del c.3346_3343 p.L1115fs 1.000:1.000:1.000:1.000 NULL "superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" "(deletion:cds_exon[123405931,123406070])" no_errors NCOR2 9612 hgsc.bcm.edu 36 12 123470525 123470525 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 123470525 123470525 G T SNP NCOR2 NM_006312 human genbank 54_36p -1 validated nonsense c.1413 p.Y471* 1 "HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding" "HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding" - no_errors NEUROD4 58158 hgsc.bcm.edu 36 12 53706710 53706710 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 53706710 53706710 A T SNP NEUROD4 NM_021191 human genbank 54_36p 1 validated nonsense c.220 p.K74* 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors NOS1 4842 hgsc.bcm.edu 36 12 116210390 116210390 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 116210390 116210390 C G SNP NOS1 NM_000620 human genbank 54_36p -1 validated missense c.999 p.E333D 1 superfamily_Nitric oxide (NO) synthase oxygenase domain ############################################################################################################################################################################################################################################################### - no_errors NR1H4 9971 hgsc.bcm.edu 36 12 99454957 99454957 + Splice_Site SNP G G A novel Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 99454957 99454957 G A SNP NR1H4 NM_005123 human genbank 54_36p 1 provisional splice_site c.919+1 e6+1 1 - - - no_errors OAS1 4938 hgsc.bcm.edu 36 12 111838826 111838826 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 111838826 111838826 G C SNP OAS1 NM_001032409 human genbank 54_36p 1 reviewed missense c.784 p.V262L 0 "HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain" "superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2" - no_errors OAS3 4940 hgsc.bcm.edu 36 12 111863798 111863798 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 111863798 111863798 G T SNP OAS3 NM_006187 human genbank 54_36p 1 reviewed missense c.218 p.C73F 0 "superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1" "superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMPfam_NTP_transf_2" - no_errors OLR1 4973 hgsc.bcm.edu 36 12 10210806 10210806 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 10210806 10210806 G A SNP OLR1 NM_002543 human genbank 54_36p -1 validated missense c.196 p.L66F 0.34 NULL "PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold,HMMSmart_CLECT,HMMPfam_Lectin_C" - no_errors PAH 5053 hgsc.bcm.edu 36 12 101761622 101761622 + Silent SNP G G A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 101761622 101761622 G A SNP PAH NM_000277 human genbank 54_36p -1 reviewed silent c.1131 p.Y377 0.32 "superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H" "superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL" - no_errors PAH 5053 hgsc.bcm.edu 36 12 101773205 101773205 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 101773205 101773205 T C SNP PAH NM_000277 human genbank 54_36p -1 reviewed missense c.545 p.E182G 1 "HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase" "HMMPfam_ACT,PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase,superfamily_SSF55021" - no_errors PAN2 9924 hgsc.bcm.edu 36 12 55005108 55005108 + Silent SNP A A C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 55005108 55005108 A C SNP PAN2 NM_014871 human genbank 54_36p -1 validated silent c.1551 p.A517 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_WD40 repeat-like,superfamily_Cysteine proteinases,HMMPfam_UCH,superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T" - no_errors PDE3A 5139 hgsc.bcm.edu 36 12 20679213 20679213 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 20679213 20679213 G C SNP PDE3A NM_000921 human genbank 54_36p 1 validated missense c.1957 p.A653P 0 NULL "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDE6H 5149 hgsc.bcm.edu 36 12 15022348 15022348 + Splice_Site SNP G G C novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G C C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 15022348 15022348 G C SNP PDE6H NM_006205 human genbank 54_36p 1 provisional splice_site c.134+1 e1+1 1 - - - no_errors PDZRN4 29951 hgsc.bcm.edu 36 12 40252443 40252445 + In_Frame_Del DEL AAG AAG - novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 AAG AAG . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 40252443 40252445 AAG - DEL PDZRN4 NM_013377 human genbank 54_36p 1 validated in_frame_del c.821_823 p.E278in_frame_del 0.991:0.868:1.000 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" "(deletion:cds_exon[40252433,40253959])" no_errors PEX5 5830 hgsc.bcm.edu 36 12 7253018 7253018 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 7253018 7253018 C T SNP PEX5 NM_000319 human genbank 54_36p 1 reviewed silent c.1521 p.L507 1 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" "superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1" - no_errors PFDN5 5204 hgsc.bcm.edu 36 12 51976327 51976327 + Splice_Site SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 51976327 51976327 G C SNP PFDN5 NM_002624 human genbank 54_36p 1 reviewed splice_site c.207+1 e3+1 1 - - - no_errors PHC1 1911 hgsc.bcm.edu 36 12 8964923 8964923 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 8964923 8964923 G A SNP PHC1 NM_004426 human genbank 54_36p 1 reviewed missense c.301 p.A101T 1 NULL "HMMPfam_zf-FCS,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors PLXNC1 10154 hgsc.bcm.edu 36 12 93165974 93165974 + Silent SNP G G T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 93165974 93165974 G T SNP PLXNC1 NM_005761 human genbank 54_36p 1 provisional silent c.2553 p.V851 0.2 HMMSmart_IPT "superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_TIG,HMMSmart_IPT,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors POLE 5426 hgsc.bcm.edu 36 12 131724744 131724744 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 131724744 131724744 G C SNP POLE NM_006231 human genbank 54_36p -1 validated missense c.5607 p.N1869K 1 HMMPfam_DUF1744 "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,HMMPfam_DNA_pol_B,superfamily_SSF56672,HMMPfam_DUF1744" - no_errors PPFIA2 8499 hgsc.bcm.edu 36 12 80257111 80257111 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 80257111 80257111 T C SNP PPFIA2 NM_003625 human genbank 54_36p -1 reviewed missense c.2527 p.K843E 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPHLN1 51535 hgsc.bcm.edu 36 12 41015986 41015986 + Silent SNP A A C novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 41015986 41015986 A C SNP PPHLN1 NM_016488 human genbank 54_36p 1 reviewed silent c.15 p.G5 1 NULL NULL - no_errors PPHLN1 51535 hgsc.bcm.edu 36 12 41055006 41055006 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 41055006 41055006 G C SNP PPHLN1 NM_016488 human genbank 54_36p 1 reviewed missense c.374 p.R125T 1 NULL NULL - no_errors PRB1 5542 hgsc.bcm.edu 36 12 11397670 11397670 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 11397670 11397670 A G SNP PRB1 ENST00000381832 human ensembl 54_36p -1 known missense c.820 p.S274P 0 NULL NULL - no_errors PRICKLE1 144165 hgsc.bcm.edu 36 12 41144643 41144643 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 41144643 41144643 C G SNP PRICKLE1 NM_153026 human genbank 54_36p -1 validated missense c.1460 p.S487T 1 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors PRPF40B 25766 hgsc.bcm.edu 36 12 48310665 48310665 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 48310665 48310665 C T SNP PRPF40B NM_001031698 human genbank 54_36p 1 provisional missense c.8 p.P3L 1 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF" - no_errors PRR4 11272 hgsc.bcm.edu 36 12 10891057 10891057 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 10891057 10891057 G A SNP PRR4 NM_001098538 human genbank 54_36p -1 validated nonsense c.316 p.R106* 0 NULL NULL - no_errors PTPN11 5781 hgsc.bcm.edu 36 12 111400126 111400126 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 111400126 111400126 A G SNP PTPN11 NM_002834 human genbank 54_36p 1 reviewed missense c.1016 p.N339S 0.97 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRR 5801 hgsc.bcm.edu 36 12 69341132 69341132 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 69341132 69341132 T C SNP PTPRR NM_002849 human genbank 54_36p -1 reviewed missense c.1621 p.T541A 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors RARG 5916 hgsc.bcm.edu 36 12 51907577 51907577 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 51907577 51907577 C T SNP RARG NM_000966 human genbank 54_36p -1 validated missense c.20 p.R7Q 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors RIMBP2 23504 hgsc.bcm.edu 36 12 129463119 129463119 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 129463119 129463119 A G SNP RIMBP2 NM_015347 human genbank 54_36p -1 validated missense c.2819 p.I940T 1 superfamily_SH3-domain "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" - no_errors RND1 27289 hgsc.bcm.edu 36 12 47545777 47545777 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 47545777 47545777 C A SNP RND1 NM_014470 human genbank 54_36p -1 provisional missense c.41 p.C14F 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors RNF10 9921 hgsc.bcm.edu 36 12 119489034 119489034 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 119489034 119489034 G A SNP RNF10 NM_014868 human genbank 54_36p 1 reviewed missense c.1909 p.E637K 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors RNFT2 84900 hgsc.bcm.edu 36 12 115771534 115771534 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 115771534 115771534 G C SNP RNFT2 NM_001109903 human genbank 54_36p 1 validated missense c.1233 p.W411C 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors SDSL 113675 hgsc.bcm.edu 36 12 112358951 112358951 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 112358951 112358951 C - DEL SDSL NM_138432 human genbank 54_36p 1 provisional frame_shift_del c.684 p.L229fs 0.94 "superfamily_PyrdxlP-dep_enz_bsu,HMMPfam_PALP" "superfamily_PyrdxlP-dep_enz_bsu,HMMPfam_PALP,PatternScan_DEHYDRATASE_SER_THR" "(deletion:cds_exon[112358939,112359063])" no_errors SRSF2IP 9169 hgsc.bcm.edu 36 12 44606752 44606756 + Frame_Shift_Del DEL TTTTC TTTTC - novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 TTTTC TTTTC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 44606752 44606756 TTTTC - DEL SFRS2IP NM_004719 human genbank 54_36p -1 validated frame_shift_del c.2999_2995 p.E999fs 0.809:0.948:0.981:0.990:0.991 NULL "superfamily_RING/U-box,HMMSmart_SM00184,PatternScan_ZF_RING_1" "(deletion:cds_exon[44606192,44608909])" no_errors SRSF2IP 9169 hgsc.bcm.edu 36 12 44628582 44628582 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 44628582 44628582 T A SNP SFRS2IP NM_004719 human genbank 54_36p -1 validated missense c.303 p.Q101H 1 superfamily_RING/U-box "HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_RING/U-box" - no_errors SILV 6490 hgsc.bcm.edu 36 12 54641463 54641463 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 54641463 54641463 G C SNP SILV NM_006928 human genbank 54_36p -1 validated missense c.239 p.A80G 1 NULL "superfamily_PKD domain,HMMPfam_PKD,HMMSmart_SM00089" - no_errors SLC2A14 144195 hgsc.bcm.edu 36 12 7861875 7861875 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 7861875 7861875 A C SNP SLC2A14 NM_153449 human genbank 54_36p -1 provisional missense c.1163 p.F388C 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC2A3 6515 hgsc.bcm.edu 36 12 7966868 7966868 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 7966868 7966868 C T SNP SLC2A3 NM_006931 human genbank 54_36p -1 validated missense c.1088 p.S363N 0.97 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC4A8 9498 hgsc.bcm.edu 36 12 50175052 50175052 + Silent SNP C C T novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 50175052 50175052 C T SNP SLC4A8 NM_001039960 human genbank 54_36p 1 validated silent c.2826 p.I942 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC6A15 55117 hgsc.bcm.edu 36 12 83809943 83809943 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 83809943 83809943 C T SNP SLC6A15 NM_182767 human genbank 54_36p -1 validated missense c.88 p.A30T 0.99 NULL "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLCO1C1 53919 hgsc.bcm.edu 36 12 20759467 20759467 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 20759467 20759467 C A SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.657 p.D219E 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP" "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors SLCO1C1 53919 hgsc.bcm.edu 36 12 20767338 20767338 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 20767338 20767338 C A SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1069 p.L357I 0.42 "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors STAB2 55576 hgsc.bcm.edu 36 12 102613465 102613465 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 102613465 102613465 T A SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.3383 p.V1128D 0.38 "superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1" ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 hgsc.bcm.edu 36 12 102629420 102629420 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 102629420 102629420 G A SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.4330 p.A1444T 1 HMMSmart_EGF ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 hgsc.bcm.edu 36 12 102660312 102660312 + Splice_Site SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 102660312 102660312 G C SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed splice_site c.5882-1 e56-1 1 - - - no_errors STAB2 55576 hgsc.bcm.edu 36 12 102677123 102677123 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 102677123 102677123 T G SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.7190 p.L2397R 0.44 "HMMSmart_FAS1,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 hgsc.bcm.edu 36 12 102679209 102679209 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 102679209 102679209 C T SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.7250 p.T2417M 0.98 "HMMSmart_FAS1,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors STAC3 246329 hgsc.bcm.edu 36 12 55924221 55924221 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 55924221 55924221 G A SNP STAC3 NM_145064 human genbank 54_36p -1 provisional missense c.913 p.R305W 1 "superfamily_SH3-domain,HMMSmart_SM00326" "superfamily_Cysteine-rich domain,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors STAC3 246329 hgsc.bcm.edu 36 12 55929311 55929311 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 55929311 55929311 C A SNP STAC3 NM_145064 human genbank 54_36p -1 provisional missense c.114 p.K38N 0.47 NULL "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_SH3_2,superfamily_Cysteine-rich domain" - no_errors STAT6 6778 hgsc.bcm.edu 36 12 55782944 55782944 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 55782944 55782944 C G SNP STAT6 NM_003153 human genbank 54_36p -1 reviewed missense c.1240 p.V414L 1 "HMMPfam_STAT_bind,superfamily_p53-like transcription factors" "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,HMMPfam_STAT_alpha,superfamily_STAT,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2,HMMSmart_SM00252" - no_errors STYK1 55359 hgsc.bcm.edu 36 12 10675157 10675157 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 12 10675157 10675157 G C SNP STYK1 NM_018423 human genbank 54_36p -1 validated missense c.205 p.P69A 0.06 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_TYR" - no_errors SYT1 6857 hgsc.bcm.edu 36 12 78203762 78203762 + Silent SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 78203762 78203762 T C SNP SYT1 NM_005639 human genbank 54_36p 1 validated silent c.231 p.F77 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors TAS2R20 259295 hgsc.bcm.edu 36 12 11041321 11041321 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 11041321 11041321 C T SNP TAS2R20 NM_176889 human genbank 54_36p -1 validated missense c.421 p.V141I 0 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors TAS2R42 353164 hgsc.bcm.edu 36 12 11230144 11230144 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 11230144 11230144 C G SNP TAS2R42 NM_181429 human genbank 54_36p -1 provisional missense c.667 p.D223H 0.05 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors TBX3 6926 hgsc.bcm.edu 36 12 113599811 113599811 + Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 113599811 113599811 C - DEL TBX3 NM_016569 human genbank 54_36p -1 reviewed frame_shift_del c.898 p.A300fs 1 "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box" "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" "(deletion:cds_exon[113599768,113599844])" no_errors TBX5 6910 hgsc.bcm.edu 36 12 113317074 113317074 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 113317074 113317074 A T SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.518 p.L173Q 1 "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box" "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBX5 6910 hgsc.bcm.edu 36 12 113324089 113324089 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 113324089 113324089 A G SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.167 p.V56A 1 "HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors" "HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors TDG 6996 hgsc.bcm.edu 36 12 102897858 102897859 + Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 102897858 102897859 - A INS TDG NM_003211 human genbank 54_36p 1 reviewed frame_shift_ins c.286_287 p.I98fs 1.000:1.000 NULL "superfamily_UDNA_glycsylseSF,HMMPfam_UDG" - no_errors TIMELESS 8914 hgsc.bcm.edu 36 12 55102188 55102188 + Silent SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 55102188 55102188 C T SNP TIMELESS NM_003920 human genbank 54_36p -1 validated silent c.2493 p.R831 1 HMMPfam_TIMELESS_C "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors TIMELESS 8914 hgsc.bcm.edu 36 12 55103428 55103428 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 12 55103428 55103428 T C SNP TIMELESS NM_003920 human genbank 54_36p -1 validated missense c.2189 p.H730R 1 HMMPfam_TIMELESS_C "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors TMEM132D 121256 hgsc.bcm.edu 36 12 128124502 128124502 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 128124502 128124502 G T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.3171 p.D1057E 0.13 NULL NULL - no_errors TMEM132D 121256 hgsc.bcm.edu 36 12 128124941 128124941 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 128124941 128124941 T A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.2732 p.K911I 1 NULL NULL - no_errors TMPO 7112 hgsc.bcm.edu 36 12 97445894 97445894 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 97445894 97445894 T C SNP TMPO NM_003276 human genbank 54_36p 1 provisional missense c.379 p.Y127H 1 "superfamily_LEM domain,HMMPfam_LEM,HMMSmart_SM00540" "HMMPfam_Thymopoietin,superfamily_LEM domain,HMMPfam_LEM,HMMSmart_SM00540" - no_errors TMPO 7112 hgsc.bcm.edu 36 12 97465572 97465572 + Silent SNP T T C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 97465572 97465572 T C SNP TMPO NM_001032283 human genbank 54_36p 1 provisional silent c.1170 p.Y390 0.99 NULL "HMMPfam_LEM,HMMSmart_SM00540,superfamily_LEM domain,HMMPfam_Thymopoietin" - no_errors TNFRSF1A 7132 hgsc.bcm.edu 36 12 6312834 6312834 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 6312834 6312834 G C SNP TNFRSF1A NM_001065 human genbank 54_36p -1 reviewed missense c.432 p.F144L 0 "superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1,HMMPfam_TNFR_c6,HMMSmart_SM00208" "superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors TRPV4 59341 hgsc.bcm.edu 36 12 108706569 108706569 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 108706569 108706569 T C SNP TRPV4 NM_021625 human genbank 54_36p -1 reviewed missense c.2393 p.D798G 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors UHRF1BP1L 23074 hgsc.bcm.edu 36 12 98977382 98977382 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 98977382 98977382 T C SNP UHRF1BP1L NM_015054 human genbank 54_36p -1 validated missense c.1804 p.I602V 0.92 NULL NULL - no_errors UNG 7374 hgsc.bcm.edu 36 12 108020600 108020600 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 108020600 108020600 T C SNP UNG NM_003362 human genbank 54_36p 1 reviewed missense c.86 p.L29P 0 NULL "superfamily_DNA glycosylase,HMMPfam_UDG,PatternScan_U_DNA_GLYCOSYLASE" - no_errors VEZT 55591 hgsc.bcm.edu 36 12 94205647 94205647 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 94205647 94205647 C G SNP VEZT NM_017599 human genbank 54_36p 1 validated missense c.1405 p.P469A 1 NULL NULL - no_errors VPS33A 65082 hgsc.bcm.edu 36 12 121311781 121311781 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 121311781 121311781 C A SNP VPS33A NM_022916 human genbank 54_36p -1 validated nonsense c.463 p.E155* 1 "superfamily_Sec1-like,HMMPfam_Sec1" "superfamily_Sec1-like,HMMPfam_Sec1" - no_errors VWF 7450 hgsc.bcm.edu 36 12 5947587 5947587 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 5947587 5947587 C T SNP VWF NM_000552 human genbank 54_36p -1 reviewed missense c.7737 p.M2579I 0.08 NULL ############################################################################################################################################################################################################################################################### - no_errors VWF 7450 hgsc.bcm.edu 36 12 5947592 5947592 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 5947592 5947592 G C SNP VWF NM_000552 human genbank 54_36p -1 reviewed missense c.7732 p.R2578G 0.94 NULL ############################################################################################################################################################################################################################################################### - no_errors VWF 7450 hgsc.bcm.edu 36 12 5973307 5973308 + Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 5973307 5973308 - C INS VWF NM_000552 human genbank 54_36p -1 reviewed frame_shift_ins c.6580_6579 p.R2193fs 1.000:1.000 HMMPfam_C8 ############################################################################################################################################################################################################################################################### - no_errors ABCC4 10257 hgsc.bcm.edu 36 13 94656996 94656996 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 13 94656996 94656996 C T SNP ABCC4 NM_005845 human genbank 54_36p -1 reviewed missense c.952 p.G318R 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ALOX5AP 241 hgsc.bcm.edu 36 13 30216290 30216290 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 13 30216290 30216290 C T SNP ALOX5AP NM_001629 human genbank 54_36p 1 reviewed missense c.164 p.T55I 1 "HMMPfam_MAPEG,PatternScan_FLAP_GST2_LTC4S" "HMMPfam_MAPEG,PatternScan_FLAP_GST2_LTC4S" - no_errors ATP8A2 51761 hgsc.bcm.edu 36 13 24941210 24941211 + Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 24941210 24941211 - T INS ATP8A2 NM_016529 human genbank 54_36p 1 validated frame_shift_ins c.172_173 p.Y59fs 1.000:1.000 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors BRCA2 675 hgsc.bcm.edu 36 13 31809921 31809921 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 31809921 31809921 A T SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed missense c.3429 p.E1143D 0 NULL "HMMPfam_BRCA2,superfamily_BRCA2_helical,HMMPfam_BRCA-2_helical,superfamily_Nucleic_acid_OB,HMMPfam_BRCA-2_OB1,HMMPfam_Tower,superfamily_SSF81878,HMMPfam_BRCA-2_OB3" - no_errors BRCA2 675 hgsc.bcm.edu 36 13 31834675 31834675 + Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T - - T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 31834675 31834675 T - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.7821 p.P2608fs 0.95 "HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical" "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31834660,31834830])" no_errors BRCA2 675 hgsc.bcm.edu 36 13 31870481 31870481 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G - - G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 31870481 31870481 G - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.9831 p.P3278fs 0.87 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31870299,31870907])" no_errors CCNA1 8900 hgsc.bcm.edu 36 13 35913329 35913329 + Silent SNP T T A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 35913329 35913329 T A SNP CCNA1 NM_003914 human genbank 54_36p 1 reviewed silent c.1173 p.A391 0.96 "HMMPfam_Cyclin_C,superfamily_Cyclin-like,HMMSmart_SM00385" "superfamily_Cyclin-like,HMMPfam_Cyclin_N,PatternScan_CYCLINS,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors CCNA1 8900 hgsc.bcm.edu 36 13 35913329 35913329 + Silent SNP T T A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 35913329 35913329 T A SNP CCNA1 NM_003914 human genbank 54_36p 1 reviewed silent c.1173 p.A391 0.96 "HMMPfam_Cyclin_C,HMMSmart_SM00385,superfamily_Cyclin-like" "HMMPfam_Cyclin_C,HMMSmart_SM00385,HMMPfam_Cyclin_N,PatternScan_CYCLINS,superfamily_Cyclin-like" - no_errors CENPJ 55835 hgsc.bcm.edu 36 13 24382157 24382157 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 24382157 24382157 C G SNP CENPJ NM_018451 human genbank 54_36p -1 reviewed missense c.636 p.E212D 0.05 NULL HMMPfam_Tcp10_C - no_errors CSNK1A1L 122011 hgsc.bcm.edu 36 13 36577077 36577077 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 36577077 36577077 C T SNP CSNK1A1L NM_145203 human genbank 54_36p -1 provisional missense c.317 p.R106K 1 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DACH1 1602 hgsc.bcm.edu 36 13 71045086 71045086 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 71045086 71045086 C T SNP DACH1 NM_080759 human genbank 54_36p -1 reviewed missense c.1192 p.A398T 1 NULL "HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain" - no_errors DCLK1 9201 hgsc.bcm.edu 36 13 35584117 35584117 + Silent SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 35584117 35584117 C T SNP DCLK1 NM_004734 human genbank 54_36p -1 validated silent c.612 p.L204 1 "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX" "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ERCC5 2073 hgsc.bcm.edu 36 13 102322697 102322697 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G T T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 102322697 102322697 G T SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed missense c.2827 p.D943Y 1 superfamily_5' to 3' exonuclease C-terminal subdomain "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors FLT3 2322 hgsc.bcm.edu 36 13 27487292 27487292 + Splice_Site SNP A A C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A C C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 27487292 27487292 A C SNP FLT3 NM_004119 human genbank 54_36p -1 reviewed splice_site c.2753+2 e22+2 1 - - - no_errors FRY 10129 hgsc.bcm.edu 36 13 31629510 31629510 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 31629510 31629510 G C SNP FRY NM_023037 human genbank 54_36p 1 validated missense c.1752 p.Q584H 1 NULL PatternScan_GHMP_KINASES_ATP - no_errors FRY 10129 hgsc.bcm.edu 36 13 31733792 31733792 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 31733792 31733792 C G SNP FRY NM_023037 human genbank 54_36p 1 validated missense c.7456 p.R2486G 1 NULL PatternScan_GHMP_KINASES_ATP - no_errors GJB6 10804 hgsc.bcm.edu 36 13 19695042 19695042 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 19695042 19695042 A T SNP GJB6 NM_006783 human genbank 54_36p -1 reviewed missense c.578 p.I193N 0.93 HMMPfam_Connexin_CCC "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors GRK1 6011 hgsc.bcm.edu 36 13 113373856 113373856 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C T T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 113373856 113373856 C T SNP GRK1 NM_002929 human genbank 54_36p 1 reviewed missense c.869 p.P290L 0 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_stop_codon:bad_bp_length_for_coding_region GRTP1 79774 hgsc.bcm.edu 36 13 113057664 113057664 + Silent SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 113057664 113057664 G A SNP GRTP1 NM_024719 human genbank 54_36p -1 validated silent c.315 p.P105 0.25 "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,PatternScan_SOMATOTROPIN_2" - no_errors HS6ST3 266722 hgsc.bcm.edu 36 13 96282995 96282995 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 96282995 96282995 G A SNP HS6ST3 NM_153456 human genbank 54_36p 1 validated missense c.958 p.V320M 1 HMMPfam_HS6ST HMMPfam_HS6ST - no_errors HTR2A 3356 hgsc.bcm.edu 36 13 46307727 46307727 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 13 46307727 46307727 A G SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.662 p.V221A 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTR2A 3356 hgsc.bcm.edu 36 13 46364629 46364629 + Silent SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 46364629 46364629 C T SNP HTR2A NM_000621 human genbank 54_36p -1 validated silent c.510 p.S170 0.09 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors IFT88 8100 hgsc.bcm.edu 36 13 20128512 20128512 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C G G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 20128512 20128512 C G SNP IFT88 NM_175605 human genbank 54_36p 1 reviewed missense c.2038 p.Q680E 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "HMMSmart_SM00028,superfamily_TPR-like,HMMSmart_SM00671,HMMPfam_TPR_1" - no_errors IPO5 3843 hgsc.bcm.edu 36 13 97450847 97450847 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 97450847 97450847 G T SNP IPO5 NM_002271 human genbank 54_36p 1 reviewed missense c.1109 p.G370V 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_HEAT" - no_errors KDELC1 79070 hgsc.bcm.edu 36 13 102239516 102239516 + Silent SNP C C T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 102239516 102239516 C T SNP KDELC1 NM_024089 human genbank 54_36p -1 reviewed silent c.1140 p.L380 0.9 "HMMPfam_DUF821,HMMSmart_CAP10" "HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN,HMMPfam_DUF821,HMMSmart_CAP10,PatternScan_ER_TARGET" - no_errors KIAA0564 23078 hgsc.bcm.edu 36 13 41283438 41283438 + Silent SNP C C G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 41283438 41283438 C G SNP KIAA0564 NM_015058 human genbank 54_36p -1 validated silent c.1986 p.L662 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327" - no_errors KL 9365 hgsc.bcm.edu 36 13 32536043 32536043 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 32536043 32536043 G A SNP KL NM_004795 human genbank 54_36p 1 reviewed missense c.2759 p.R920H 0.73 superfamily_(Trans)glycosidases "HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors LATS2 26524 hgsc.bcm.edu 36 13 20517951 20517951 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 20517951 20517951 G A SNP LATS2 NM_014572 human genbank 54_36p -1 reviewed missense c.215 p.P72L 1 NULL "HMMPfam_UBA,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors LRRC63 220416 hgsc.bcm.edu 36 13 45700067 45700067 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 45700067 45700067 C A SNP LOC220416 XM_001716651 human genbank 54_36p 1 model missense c.505 p.Q169K 0 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors MYCBP2 23077 hgsc.bcm.edu 36 13 76593607 76593607 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 76593607 76593607 G A SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.7928 p.S2643F 0.99 NULL "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,HMMPfam_PHR,superfamily_E set domains,superfamily_Galactose-binding domain-like,superfamily_RING/U-box,HMMSmart_SM00184" - no_errors NALCN 259232 hgsc.bcm.edu 36 13 100595214 100595214 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 100595214 100595214 T C SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.1874 p.E625G 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors NALCN 259232 hgsc.bcm.edu 36 13 100827077 100827077 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 100827077 100827077 A G SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.619 p.C207R 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NUPL1 9818 hgsc.bcm.edu 36 13 24808372 24808372 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 24808372 24808372 C A SNP NUPL1 NM_001008565 human genbank 54_36p 1 reviewed missense c.1457 p.A486E 1 NULL NULL - no_errors PABPC3 5042 hgsc.bcm.edu 36 13 24569333 24569333 + Frame_Shift_Del DEL A A - novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 13 24569333 24569333 A - DEL PABPC3 NM_030979 human genbank 54_36p 1 validated frame_shift_del c.997 p.F335fs 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361,superfamily_PABC (PABP) domain,HMMPfam_PABP,HMMSmart_SM00517" "(deletion:cds_exon[24568337,24570232])" no_errors PABPC3 5042 hgsc.bcm.edu 36 13 24569668 24569668 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 24569668 24569668 G C SNP PABPC3 NM_030979 human genbank 54_36p 1 validated missense c.1332 p.K444N 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_PABP,HMMSmart_SM00517,superfamily_PABC (PABP) domain,HMMSmart_SM00361,superfamily_RNA-binding domain RBD" - no_errors PAN3 255967 hgsc.bcm.edu 36 13 27749443 27749443 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 27749443 27749443 C G SNP PAN3 NM_175854 human genbank 54_36p 1 validated missense c.1519 p.R507G 1 superfamily_Kinase_like superfamily_Kinase_like - no_errors PCDH20 64881 hgsc.bcm.edu 36 13 60884665 60884665 + Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 13 60884665 60884665 A C SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.1487 p.V496G 1 "superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" "HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDH20 64881 hgsc.bcm.edu 36 13 60885447 60885447 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 60885447 60885447 C A SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.705 p.E235D 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PDS5B 23047 hgsc.bcm.edu 36 13 32139958 32139958 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 32139958 32139958 G C SNP PDS5B NM_015032 human genbank 54_36p 1 validated missense c.682 p.A228P 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook" - no_errors RASA3 22821 hgsc.bcm.edu 36 13 113783234 113783235 + In_Frame_Ins INS - - CTC novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 113783234 113783235 - CTC INS RASA3 NM_007368 human genbank 54_36p -1 reviewed in_frame_ins c.1861_1860 p.620in_frame_insE 0.979:0.743 "superfamily_Rho_GAP,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK" - no_errors RASA3 22821 hgsc.bcm.edu 36 13 113835644 113835644 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 13 113835644 113835644 T A SNP RASA3 NM_007368 human genbank 54_36p -1 reviewed missense c.262 p.R88W 1 "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,HMMPfam_BTK,HMMSmart_BTK,HMMPfam_PH,HMMSmart_PH,HMMPfam_RasGAP,HMMSmart_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_Rho_GAP,superfamily_C2_CaLB,superfamily_SSF50729" - no_errors RCBTB2 1102 hgsc.bcm.edu 36 13 47984006 47984006 + Silent SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 47984006 47984006 G A SNP RCBTB2 NM_001268 human genbank 54_36p -1 reviewed silent c.684 p.V228 1 "superfamily_RCC1/BLIP-II,HMMPfam_RCC1" "superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_2,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors RNF113B 140432 hgsc.bcm.edu 36 13 97626796 97626796 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 97626796 97626796 C A SNP RNF113B NM_178861 human genbank 54_36p -1 validated missense c.696 p.E232D 1 NULL "superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors SACS 26278 hgsc.bcm.edu 36 13 22802819 22802819 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 22802819 22802819 G C SNP SACS NM_014363 human genbank 54_36p -1 validated missense c.12755 p.T4252S 1 NULL "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,superfamily_Chaperone J-domain,HMMPfam_HEPN,superfamily_Nucleotidyltransferase substrate binding subunit/domain,HMMSmart_SM00748" - no_errors SACS 26278 hgsc.bcm.edu 36 13 22808712 22808712 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 22808712 22808712 G C SNP SACS NM_014363 human genbank 54_36p -1 validated missense c.6862 p.L2288V 1 NULL "superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain" - no_errors SETDB2 83852 hgsc.bcm.edu 36 13 48953233 48953233 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 48953233 48953233 C A SNP SETDB2 NM_031915 human genbank 54_36p 1 provisional missense c.1172 p.T391K 0.99 "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" "HMMPfam_MBD,superfamily_DNA-binding domain,HMMSmart_SM00391,superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SM00317" - no_errors SIAH3 283514 hgsc.bcm.edu 36 13 45255914 45255914 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 45255914 45255914 C T SNP SIAH3 NM_198849 human genbank 54_36p -1 validated missense c.415 p.A139T 0.18 "superfamily_Traf_like,HMMPfam_Sina" "superfamily_Traf_like,HMMPfam_Sina" - no_errors SLAIN1 122060 hgsc.bcm.edu 36 13 77233213 77233213 + Missense_Mutation SNP T G G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T G G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 77233213 77233213 T G SNP SLAIN1 NM_001040153 human genbank 54_36p 1 validated missense c.941 p.L314R 1 NULL NULL - no_errors SLITRK1 114798 hgsc.bcm.edu 36 13 83353110 83353110 + Silent SNP G G T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 83353110 83353110 G T SNP SLITRK1 NM_052910 human genbank 54_36p -1 validated silent c.534 p.P178 1 superfamily_SSF52058 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMSmart_LRRNT" - no_errors SPATA13 221178 hgsc.bcm.edu 36 13 23762949 23762949 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 23762949 23762949 A C SNP SPATA13 NM_153023 human genbank 54_36p 1 provisional missense c.1132 p.T378P 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "PatternScan_PROTAMINE_P1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors TFDP1 7027 hgsc.bcm.edu 36 13 113335471 113335471 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 113335471 113335471 G A SNP TFDP1 NM_007111 human genbank 54_36p 1 reviewed missense c.344 p.G115D 1 "HMMPfam_E2F_TDP,superfamily_SSF46785" "HMMPfam_E2F_TDP,superfamily_SSF46785,HMMPfam_DP" - no_errors TFDP1 7027 hgsc.bcm.edu 36 13 113336853 113336853 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G T T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 13 113336853 113336853 G T SNP TFDP1 NM_007111 human genbank 54_36p 1 reviewed nonsense c.622 p.E208* 1 HMMPfam_DP "HMMPfam_E2F_TDP,HMMPfam_DP,superfamily_SSF46785" - no_errors THSD1 55901 hgsc.bcm.edu 36 13 51869792 51869792 + Silent SNP A A T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 51869792 51869792 A T SNP THSD1 NM_018676 human genbank 54_36p -1 reviewed silent c.597 p.G199 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors UGGT2 55757 hgsc.bcm.edu 36 13 95377328 95377328 + Nonsense_Mutation SNP T A A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T A A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 95377328 95377328 T A SNP UGCGL2 NM_020121 human genbank 54_36p -1 provisional nonsense c.2155 p.K719* 1 NULL "HMMPfam_UDP-g_GGTase,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors ZC3H13 23091 hgsc.bcm.edu 36 13 45517620 45517620 + Silent SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 45517620 45517620 G A SNP ZC3H13 NM_015070 human genbank 54_36p -1 validated silent c.24 p.V8 1 NULL "superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH" - no_errors ZMYM2 7750 hgsc.bcm.edu 36 13 19536635 19536635 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 13 19536635 19536635 G A SNP ZMYM2 NM_003453 human genbank 54_36p 1 validated missense c.3082 p.V1028I 1 NULL "HMMPfam_zf-FCS,HMMSmart_TRASH" - no_errors ZNF828 283489 hgsc.bcm.edu 36 13 114108839 114108839 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 13 114108839 114108839 G C SNP ZNF828 NM_032436 human genbank 54_36p 1 provisional missense c.1420 p.G474R 0.12 NULL "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ADCK1 57143 hgsc.bcm.edu 36 14 77467723 77467723 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 77467723 77467723 G A SNP ADCK1 NM_020421 human genbank 54_36p 1 validated missense c.1316 p.R439H 1 NULL "superfamily_Kinase_like,HMMPfam_ABC1" - no_errors ADCY4 196883 hgsc.bcm.edu 36 14 23857808 23857808 + Silent SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 23857808 23857808 G T SNP ADCY4 NM_139247 human genbank 54_36p -1 reviewed silent c.2973 p.P991 0.98 "HMMSmart_SM00044,HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain" "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors AHNAK2 113146 hgsc.bcm.edu 36 14 104475974 104475975 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 104475974 104475975 - G INS AHNAK2 NM_138420 human genbank 54_36p -1 validated frame_shift_ins c.16859_16858 p.Q5620fs 0.000:0.000 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin" - no_errors AHNAK2 113146 hgsc.bcm.edu 36 14 104484364 104484365 + Frame_Shift_Del DEL GA GA - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 GA GA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 104484364 104484365 GA - DEL AHNAK2 NM_138420 human genbank 54_36p -1 validated frame_shift_del c.8469_8468 p.F2823fs 0.003:0.009 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "(deletion:cds_exon[104475445,104492181])" no_errors AK7 122481 hgsc.bcm.edu 36 14 95992538 95992538 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 95992538 95992538 T G SNP AK7 NM_152327 human genbank 54_36p 1 validated missense c.1200 p.D400E 0.01 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dpy-30" - no_errors AKAP6 9472 hgsc.bcm.edu 36 14 32217296 32217296 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 32217296 32217296 C T SNP AKAP6 NM_004274 human genbank 54_36p 1 reviewed missense c.2759 p.A920V 1 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,PatternScan_PFKB_KINASES_2" - no_errors ANG 283 hgsc.bcm.edu 36 14 20231685 20231685 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 20231685 20231685 A T SNP ANG NM_001097577 human genbank 54_36p 1 reviewed missense c.122 p.K41I 0.53 "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA" "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors ANGEL1 23357 hgsc.bcm.edu 36 14 76342754 76342754 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 76342754 76342754 G A SNP ANGEL1 NM_015305 human genbank 54_36p -1 validated nonsense c.1138 p.Q380* 0 "HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos" "HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos" - no_errors APEX1 328 hgsc.bcm.edu 36 14 19995274 19995274 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 19995274 19995274 G T SNP APEX1 NM_001641 human genbank 54_36p 1 reviewed nonsense c.724 p.E242* 1 "superfamily_DNase I-like,HMMPfam_Exo_endo_phos" "superfamily_DNase I-like,HMMPfam_Exo_endo_phos,PatternScan_AP_NUCLEASE_F1_1,PatternScan_AP_NUCLEASE_F1_2,PatternScan_AP_NUCLEASE_F1_3" - no_errors ATL1 51062 hgsc.bcm.edu 36 14 50157077 50157078 + Frame_Shift_Del DEL TG TG - novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 TG TG . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 50157077 50157078 TG - DEL ATL1 NM_015915 human genbank 54_36p 1 reviewed frame_shift_del c.873_874 p.D291fs 0.980:1.000 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" "(deletion:cds_exon[50157067,50157194])" no_errors BAZ1A 11177 hgsc.bcm.edu 36 14 34333744 34333744 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 34333744 34333744 A G SNP BAZ1A NM_013448 human genbank 54_36p -1 validated missense c.1325 p.F442S 1 "HMMPfam_DDT,HMMSmart_SM00571" "HMMPfam_WAC_Acf1_DNA_bd,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BDKRB1 623 hgsc.bcm.edu 36 14 95800448 95800448 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 95800448 95800448 C A SNP BDKRB1 NM_000710 human genbank 54_36p 1 reviewed missense c.676 p.L226M 0.11 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors BRF1 2972 hgsc.bcm.edu 36 14 104755073 104755073 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 104755073 104755073 A G SNP BRF1 NM_001519 human genbank 54_36p -1 reviewed missense c.1625 p.V542A 1 HMMPfam_BRF1 "HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,HMMPfam_BRF1" - no_errors C14orf106 55320 hgsc.bcm.edu 36 14 44785769 44785769 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 44785769 44785769 T - DEL C14orf106 NM_018353 human genbank 54_36p -1 validated frame_shift_del c.471 p.K157fs 0.01 NULL "HMMPfam_SANTA,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" "(deletion:cds_exon[44785696,44786239])" no_errors VRTN 55237 hgsc.bcm.edu 36 14 73894215 73894216 + Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 73894215 73894216 - G INS C14orf115 NM_018228 human genbank 54_36p 1 validated frame_shift_ins c.976_977 p.V329fs 0.998:0.997 NULL HMMPfam_Transposase_8 - no_errors C14orf118 55668 hgsc.bcm.edu 36 14 75708025 75708025 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 75708025 75708025 G C SNP C14orf118 NM_017926 human genbank 54_36p 1 validated missense c.814 p.D272H 1 NULL NULL - no_errors C14orf148 122945 hgsc.bcm.edu 36 14 76950212 76950212 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 76950212 76950212 T A SNP C14orf148 NM_138791 human genbank 54_36p -1 predicted missense c.167 p.N56I 0 NULL "superfamily_NAD(P)-bd,HMMPfam_F420_oxidored" - no_errors C14orf159 80017 hgsc.bcm.edu 36 14 90709423 90709423 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 90709423 90709423 G T SNP C14orf159 NM_001102368 human genbank 54_36p 1 validated missense c.494 p.C165F 1 HMMPfam_DUF1445 HMMPfam_DUF1445 - no_errors C14orf28 122525 hgsc.bcm.edu 36 14 44443399 44443399 + Silent SNP C C A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 44443399 44443399 C A SNP C14orf28 NM_001017923 human genbank 54_36p 1 validated silent c.666 p.P222 1 NULL NULL - no_errors C14orf4 64207 hgsc.bcm.edu 36 14 76563302 76563302 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 76563302 76563302 G A SNP C14orf4 NM_024496 human genbank 54_36p -1 validated missense c.587 p.P196L 1 NULL NULL - no_errors CDH24 1016 hgsc.bcm.edu 36 14 22588718 22588718 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 22588718 22588718 G C SNP CDH24 NM_022478 human genbank 54_36p -1 validated missense c.1669 p.P557A 0.82 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH24 1016 hgsc.bcm.edu 36 14 22588879 22588879 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 22588879 22588879 G T SNP CDH24 NM_022478 human genbank 54_36p -1 validated missense c.1591 p.P531T 0.65 "HMMPfam_Cadherin,superfamily_Cadherin-like" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors CDKL1 8814 hgsc.bcm.edu 36 14 49875490 49875490 + Silent SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 49875490 49875490 G A SNP CDKL1 NM_004196 human genbank 54_36p -1 reviewed silent c.666 p.L222 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CHD8 57680 hgsc.bcm.edu 36 14 20940066 20940066 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 20940066 20940066 C A SNP CHD8 NM_020920 human genbank 54_36p -1 validated nonsense c.3115 p.E1039* 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors CHD8 57680 hgsc.bcm.edu 36 14 20944889 20944889 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 20944889 20944889 C T SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.2036 p.C679Y 1 "HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHMP4A 29082 hgsc.bcm.edu 36 14 23748961 23748961 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 23748961 23748961 C T SNP CHMP4A NM_014169 human genbank 54_36p -1 validated missense c.760 p.E254K 0.94 NULL HMMPfam_Snf7 - no_errors CHMP4A 29082 hgsc.bcm.edu 36 14 23750470 23750470 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 23750470 23750470 T G SNP CHMP4A NM_014169 human genbank 54_36p -1 validated missense c.479 p.Y160S 1 HMMPfam_Snf7 HMMPfam_Snf7 - no_errors DAAM1 23002 hgsc.bcm.edu 36 14 58867691 58867693 + In_Frame_Del DEL TGC TGC - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 TGC TGC . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 58867691 58867693 TGC - DEL DAAM1 NM_014992 human genbank 54_36p 1 reviewed in_frame_del c.1572_1574 p.A525in_frame_del 0.999:1.000:0.995 NULL "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "(deletion:cds_exon[58867680,58867979])" no_errors DAD1 1603 hgsc.bcm.edu 36 14 22113848 22113850 + In_Frame_Del DEL CAA CAA - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 CAA CAA . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 22113848 22113850 CAA - DEL DAD1 NM_001344 human genbank 54_36p -1 reviewed in_frame_del c.337_335 p.V112in_frame_del 1.000:0.996:1.000 HMMPfam_DAD HMMPfam_DAD "(deletion:cds_exon[22113843,22113973])" no_errors DDHD1 80821 hgsc.bcm.edu 36 14 52594974 52594975 + Frame_Shift_Del DEL GT GT - novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 GT GT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 52594974 52594975 GT - DEL DDHD1 NM_030637 human genbank 54_36p -1 provisional frame_shift_del c.1963_1962 p.L654fs 1.000:1.000 HMMPfam_DDHD HMMPfam_DDHD "(deletion:cds_exon[52594945,52595094])" no_errors DPF3 8110 hgsc.bcm.edu 36 14 72289787 72289787 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 72289787 72289787 C T SNP DPF3 NM_012074 human genbank 54_36p -1 provisional missense c.239 p.R80H 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors EML1 2009 hgsc.bcm.edu 36 14 99411069 99411069 + Silent SNP G G A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 99411069 99411069 G A SNP EML1 NM_001008707 human genbank 54_36p 1 reviewed silent c.432 p.S144 0 NULL "HMMPfam_HELP,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like,PatternScan_EF_HAND_1,PatternScan_HIS_ACID_PHOSPHAT_2" - no_errors EML5 161436 hgsc.bcm.edu 36 14 88221225 88221225 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 88221225 88221225 C A SNP EML5 NM_183387 human genbank 54_36p -1 validated missense c.2869 p.D957Y 1 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "HMMPfam_HELP,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors ENTPD5 957 hgsc.bcm.edu 36 14 73519524 73519524 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 73519524 73519524 C G SNP ENTPD5 NM_001249 human genbank 54_36p -1 reviewed missense c.391 p.A131P 1 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors EXD2 55218 hgsc.bcm.edu 36 14 68765378 68765378 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 68765378 68765378 C G SNP EXD2 NM_018199 human genbank 54_36p 1 provisional missense c.51 p.I17M 0.03 superfamily_RNaseH_fold "superfamily_RNaseH_fold,HMMPfam_3_5_exonuc" - no_errors EXD2 55218 hgsc.bcm.edu 36 14 68771270 68771270 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 68771270 68771270 A C SNP EXD2 NM_018199 human genbank 54_36p 1 provisional missense c.443 p.D148A 0 NULL "HMMPfam_3_5_exonuc,superfamily_RNaseH_fold" - no_errors FANCM 57697 hgsc.bcm.edu 36 14 44714795 44714795 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 44714795 44714795 C T SNP FANCM NM_020937 human genbank 54_36p 1 reviewed nonsense c.3088 p.R1030* 0.12 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Restriction endonuclease-like,HMMPfam_ERCC4,superfamily_RuvA domain 2-like" - no_errors FBLN5 10516 hgsc.bcm.edu 36 14 91413697 91413697 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 91413697 91413697 C G SNP FBLN5 NM_006329 human genbank 54_36p -1 reviewed missense c.1072 p.G358R 1 NULL "superfamily_EGF/Laminin,HMMPfam_EGF_CA,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors FBLN5 10516 hgsc.bcm.edu 36 14 91473124 91473124 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 91473124 91473124 G C SNP FBLN5 NM_006329 human genbank 54_36p -1 reviewed nonsense c.299 p.S100* 0.89 NULL "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors FCF1 51077 hgsc.bcm.edu 36 14 74270578 74270578 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 74270578 74270578 G T SNP FCF1 NM_015962 human genbank 54_36p 1 validated missense c.500 p.R167I 1 "superfamily_PIN domain-like,HMMPfam_Fcf1" "superfamily_PIN domain-like,HMMSmart_SM00670,HMMPfam_Fcf1" - no_errors FITM1 161247 hgsc.bcm.edu 36 14 23670707 23670707 + Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 23670707 23670707 C - DEL FIT1 NM_203402 human genbank 54_36p 1 validated frame_shift_del c.95 p.S33fs 1 NULL HMMPfam_Scs3p "(deletion:cds_exon[23670613,23670878])" no_errors FLJ10357 55701 hgsc.bcm.edu 36 14 20614818 20614818 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 20614818 20614818 C G SNP FLJ10357 NM_018071 human genbank 54_36p 1 validated missense c.1963 p.P655A 1 NULL "superfamily_DBL homology domain (DH-domain),superfamily_PH domain-like,HMMSmart_SM00233" - no_errors FLRT2 23768 hgsc.bcm.edu 36 14 85158949 85158949 + Silent SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 85158949 85158949 C T SNP FLRT2 NM_013231 human genbank 54_36p 1 reviewed silent c.1338 p.T446 0.7 "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors FLVCR2 55640 hgsc.bcm.edu 36 14 75177289 75177289 + Silent SNP C C A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 75177289 75177289 C A SNP FLVCR2 NM_017791 human genbank 54_36p 1 validated silent c.1353 p.I451 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors FOXG1 2290 hgsc.bcm.edu 36 14 28307616 28307616 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 28307616 28307616 G C SNP FOXG1 NM_005249 human genbank 54_36p 1 reviewed missense c.1380 p.L460F 1 NULL "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors RALGAPA1 253959 hgsc.bcm.edu 36 14 35144664 35144664 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 35144664 35144664 C A SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.5414 p.R1805L 1 superfamily_SSF111347 "superfamily_SSF111347,HMMPfam_Rap_GAP" - no_errors RALGAPA1 253959 hgsc.bcm.edu 36 14 35174434 35174434 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 35174434 35174434 T C SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.4280 p.N1427S 1 NULL "HMMPfam_Rap_GAP,superfamily_SSF111347" - no_errors HAUS4 54930 hgsc.bcm.edu 36 14 22486947 22486947 + Silent SNP C C A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 22486947 22486947 C A SNP C14orf94 NM_017815 human genbank 54_36p -1 predicted silent c.678 p.L226 0.99 NULL NULL - no_errors HECTD1 25831 hgsc.bcm.edu 36 14 30648466 30648466 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 30648466 30648466 A T SNP HECTD1 NM_015382 human genbank 54_36p -1 validated missense c.6368 p.F2123Y 1 NULL "superfamily_ARM repeat,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC,HMMPfam_MIB_HERC2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors KCNH5 27133 hgsc.bcm.edu 36 14 62244288 62244288 + Silent SNP C C T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 62244288 62244288 C T SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed silent c.2658 p.E886 0.99 NULL "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors KCNH5 27133 hgsc.bcm.edu 36 14 62523610 62523610 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 62523610 62523610 C A SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed missense c.482 p.S161I 1 NULL "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors KCNK10 54207 hgsc.bcm.edu 36 14 87763626 87763626 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 87763626 87763626 C G SNP KCNK10 NM_138317 human genbank 54_36p -1 reviewed missense c.527 p.G176A 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" - no_errors KIAA0317 9870 hgsc.bcm.edu 36 14 74201301 74201301 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 74201301 74201301 G C SNP KIAA0317 NM_001039479 human genbank 54_36p -1 validated missense c.2184 p.F728L 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_E set domains,HMMPfam_Filamin,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors KHNYN 23351 hgsc.bcm.edu 36 14 23971894 23971894 + Silent SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 23971894 23971894 C T SNP KIAA0323 NM_015299 human genbank 54_36p 1 validated silent c.1476 p.V492 1 NULL NULL - no_errors KHNYN 23351 hgsc.bcm.edu 36 14 23976081 23976081 + Splice_Site SNP G G T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 23976081 23976081 G T SNP KIAA0323 NM_015299 human genbank 54_36p 1 validated splice_site c.1788-1 e7-1 0.95 - - - no_errors NYNRIN 57523 hgsc.bcm.edu 36 14 23949056 23949056 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 23949056 23949056 T G SNP KIAA1305 NM_025081 human genbank 54_36p 1 validated missense c.2216 p.F739C 0 NULL "superfamily_DNA/RNA polymerases,superfamily_Ribonuclease H-like" - no_errors KIAA1409 57578 hgsc.bcm.edu 36 14 93129916 93129916 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 93129916 93129916 G A SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated nonsense c.2639 p.W880* 1 NULL NULL - no_errors KIAA1409 57578 hgsc.bcm.edu 36 14 93133499 93133499 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 93133499 93133499 T C SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.2701 p.S901P 1 NULL NULL - no_errors KIAA1409 57578 hgsc.bcm.edu 36 14 93190053 93190053 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 93190053 93190053 C T SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.5797 p.R1933W 1 NULL NULL - no_errors KTN1 3895 hgsc.bcm.edu 36 14 55173781 55173781 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 55173781 55173781 G A SNP KTN1 NM_001079521 human genbank 54_36p 1 validated missense c.1662 p.M554I 1 NULL superfamily_Spectrin repeat - no_errors KTN1 3895 hgsc.bcm.edu 36 14 55189516 55189516 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 55189516 55189516 A G SNP KTN1 NM_001079521 human genbank 54_36p 1 validated missense c.2723 p.K908R 0.89 NULL superfamily_Spectrin repeat - no_errors LRP10 26020 hgsc.bcm.edu 36 14 22414216 22414216 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 22414216 22414216 G A SNP LRP10 NM_014045 human genbank 54_36p 1 validated missense c.328 p.G110S 1 "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042" "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_CUB,PatternScan_LDLRA_1" - no_errors LRP10 26020 hgsc.bcm.edu 36 14 22414700 22414700 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 22414700 22414700 C G SNP LRP10 NM_014045 human genbank 54_36p 1 validated missense c.703 p.R235G 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module" - no_errors MARK3 4140 hgsc.bcm.edu 36 14 102988019 102988019 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 102988019 102988019 G A SNP MARK3 NM_002376 human genbank 54_36p 1 validated missense c.358 p.E120K 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Kinase associated domain 1 KA1,HMMPfam_KA1" - no_errors MDGA2 161357 hgsc.bcm.edu 36 14 46600366 46600366 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 46600366 46600366 C T SNP MDGA2 NM_182830 human genbank 54_36p -1 validated missense c.467 p.R156Q 1 "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_MAM,HMMPfam_MAM" - no_errors METT11D1 64745 hgsc.bcm.edu 36 14 20528562 20528562 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 20528562 20528562 C A SNP METT11D1 NM_001029991 human genbank 54_36p 1 validated missense c.329 p.A110D 0.83 NULL "HMMPfam_Rsm22,superfamily_SSF53335" - no_errors MNAT1 4331 hgsc.bcm.edu 36 14 60355243 60355243 + Silent SNP A A G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 60355243 60355243 A G SNP MNAT1 NM_002431 human genbank 54_36p 1 validated silent c.612 p.R204 1 HMMPfam_MAT1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_MAT1" - no_errors MTHFD1 4522 hgsc.bcm.edu 36 14 63956328 63956328 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 63956328 63956328 A G SNP MTHFD1 NM_005956 human genbank 54_36p 1 reviewed missense c.659 p.E220G 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_THF_DHG_CYH_C" ############################################################################################################################################################################################################################################################### - no_errors NOVA1 4857 hgsc.bcm.edu 36 14 25987867 25987867 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 25987867 25987867 A G SNP NOVA1 NM_002515 human genbank 54_36p -1 reviewed missense c.662 p.V221A 1 "superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1" - no_errors NPAS3 64067 hgsc.bcm.edu 36 14 32754188 32754188 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 32754188 32754188 C T SNP NPAS3 NM_173159 human genbank 54_36p 1 validated missense c.100 p.R34W 1 "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMPfam_PAS,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC" - no_errors NRXN3 9369 hgsc.bcm.edu 36 14 78502450 78502450 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 78502450 78502450 C A SNP NRXN3 NM_004796 human genbank 54_36p 1 reviewed missense c.1606 p.L536I 1 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" "PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_4.1m,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors OR11G2 390439 hgsc.bcm.edu 36 14 19736015 19736016 + Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 19736015 19736016 - A INS OR11G2 NM_001005503 human genbank 54_36p 1 provisional frame_shift_ins c.681_682 p.G229fs 0.127:0.000 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4E2 26686 hgsc.bcm.edu 36 14 21203148 21203148 + Silent SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 21203148 21203148 A C SNP OR4E2 NM_001001912 human genbank 54_36p 1 validated silent c.12 p.L4 0.22 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PACS2 23241 hgsc.bcm.edu 36 14 104928592 104928592 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 104928592 104928592 G A SNP PACS2 NM_001100913 human genbank 54_36p 1 validated missense c.2047 p.V683M 1 HMMPfam_Pacs-1 HMMPfam_Pacs-1 - no_errors PCK2 5106 hgsc.bcm.edu 36 14 23642652 23642652 + Missense_Mutation SNP G G A rs35618680 byCluster;byFrequency TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 23642652 23642652 G A SNP PCK2 NM_004563 human genbank 54_36p 1 reviewed missense c.1562 p.R521H 0.98 "HMMPfam_PEPCK,superfamily_PEP carboxykinase-like" "superfamily_PEP carboxykinase N-terminal domain,HMMPfam_PEPCK,superfamily_PEP carboxykinase-like,PatternScan_PEPCK_GTP" - no_errors PGF 5228 hgsc.bcm.edu 36 14 74479185 74479185 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 74479185 74479185 C T SNP PGF NM_002632 human genbank 54_36p -1 validated missense c.490 p.G164S 0.43 NULL "superfamily_Cystine-knot cytokines,HMMSmart_SM00141,HMMPfam_PDGF,PatternScan_PDGF_1" - no_errors PRKCH 5583 hgsc.bcm.edu 36 14 60994040 60994040 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 60994040 60994040 G A SNP PRKCH NM_006255 human genbank 54_36p 1 reviewed missense c.1168 p.V390M 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PRKD1 5587 hgsc.bcm.edu 36 14 29177749 29177749 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 29177749 29177749 G A SNP PRKD1 NM_002742 human genbank 54_36p -1 validated missense c.809 p.P270L 1 superfamily_SSF57889 "superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PRMT5 10419 hgsc.bcm.edu 36 14 22463692 22463692 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 22463692 22463692 G C SNP PRMT5 NM_006109 human genbank 54_36p -1 validated missense c.1006 p.Q336E 1 "HMMPfam_PRMT5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_PRMT5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors PSME1 5720 hgsc.bcm.edu 36 14 23676234 23676234 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 23676234 23676234 G - DEL PSME1 NM_176783 human genbank 54_36p 1 reviewed frame_shift_del c.115 p.E39fs 0.99 "superfamily_Prot_act_regA,HMMPfam_PA28_alpha" "superfamily_Prot_act_regA,HMMPfam_PA28_alpha,HMMPfam_PA28_beta" "(deletion:cds_exon[23676192,23676254])" no_errors PTPN21 11099 hgsc.bcm.edu 36 14 88005598 88005598 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 88005598 88005598 A G SNP PTPN21 NM_007039 human genbank 54_36p -1 reviewed missense c.3233 p.L1078S 0.99 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404" ############################################################################################################################################################################################################################################################### - no_errors RAB2B 84932 hgsc.bcm.edu 36 14 21001674 21001674 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 21001674 21001674 G C SNP RAB2B NM_032846 human genbank 54_36p -1 provisional missense c.455 p.T152R 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors RBM25 58517 hgsc.bcm.edu 36 14 72645841 72645841 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 72645841 72645841 A G SNP RBM25 NM_021239 human genbank 54_36p 1 validated missense c.1580 p.K527R 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI" - no_errors RDH12 145226 hgsc.bcm.edu 36 14 67270307 67270307 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 67270307 67270307 C T SNP RDH12 NM_152443 human genbank 54_36p 1 reviewed missense c.940 p.R314W 1 NULL "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" - no_errors RIPK3 11035 hgsc.bcm.edu 36 14 23876508 23876508 + Splice_Site SNP T T A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 23876508 23876508 T A SNP RIPK3 NM_006871 human genbank 54_36p -1 reviewed splice_site c.901-2 e8-2 0.85 - - - no_errors RIPK3 11035 hgsc.bcm.edu 36 14 23877326 23877326 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 23877326 23877326 C T SNP RIPK3 NM_006871 human genbank 54_36p -1 reviewed missense c.633 p.M211I 0.95 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors RNASE11 122651 hgsc.bcm.edu 36 14 20121908 20121908 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 20121908 20121908 A C SNP RNASE11 NM_145250 human genbank 54_36p -1 validated missense c.566 p.L189R 1 superfamily_RNase A-like superfamily_RNase A-like - no_errors RNASE11 122651 hgsc.bcm.edu 36 14 20122180 20122180 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 20122180 20122180 G A SNP RNASE11 NM_145250 human genbank 54_36p -1 validated silent c.294 p.C98 0 superfamily_RNase A-like superfamily_RNase A-like - no_errors SALL2 6297 hgsc.bcm.edu 36 14 21060819 21060819 + Silent SNP C C T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 21060819 21060819 C T SNP SALL2 NM_005407 human genbank 54_36p -1 validated silent c.2883 p.L961 0.94 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SEC23A 10484 hgsc.bcm.edu 36 14 38584206 38584206 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 38584206 38584206 C T SNP SEC23A NM_006364 human genbank 54_36p -1 reviewed missense c.1811 p.R604H 1 "superfamily_Sec23_helical,HMMPfam_Sec23_helical" "superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin" - no_errors SERPINA12 145264 hgsc.bcm.edu 36 14 94034154 94034154 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 94034154 94034154 G T SNP SERPINA12 NM_173850 human genbank 54_36p -1 provisional missense c.334 p.L112I 0.01 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "PatternScan_SERPIN,superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" - no_errors SERPINA4 5267 hgsc.bcm.edu 36 14 94100013 94100013 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 94100013 94100013 C A SNP SERPINA4 NM_006215 human genbank 54_36p 1 provisional missense c.441 p.H147Q 0 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors SERPINA4 5267 hgsc.bcm.edu 36 14 94100151 94100151 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 94100151 94100151 G C SNP SERPINA4 NM_006215 human genbank 54_36p 1 provisional missense c.579 p.K193N 1 "HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin" "HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin" - no_errors SERPINA6 866 hgsc.bcm.edu 36 14 93850271 93850271 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 93850271 93850271 C G SNP SERPINA6 NM_001756 human genbank 54_36p -1 reviewed missense c.468 p.L156F 0 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SIPA1L1 26037 hgsc.bcm.edu 36 14 71125513 71125513 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 71125513 71125513 G A SNP SIPA1L1 NM_015556 human genbank 54_36p 1 provisional missense c.1171 p.D391N 1 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors SLC24A4 123041 hgsc.bcm.edu 36 14 92018837 92018837 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 92018837 92018837 T A SNP SLC24A4 NM_153646 human genbank 54_36p 1 validated missense c.1265 p.V422D 0.97 NULL HMMPfam_Na_Ca_ex - no_errors SOCS4 122809 hgsc.bcm.edu 36 14 54580048 54580048 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 54580048 54580048 G C SNP SOCS4 NM_080867 human genbank 54_36p 1 reviewed missense c.536 p.R179T 0 NULL "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00253,HMMPfam_SOCS_box" - no_errors SPTB 6710 hgsc.bcm.edu 36 14 64322388 64322388 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 64322388 64322388 G C SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.3596 p.S1199C 1 "HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors SPTB 6710 hgsc.bcm.edu 36 14 64331923 64331925 + In_Frame_Del DEL CAT CAT - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 CAT CAT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 64331923 64331925 CAT - DEL SPTB NM_001024858 human genbank 54_36p -1 validated in_frame_del c.1529_1527 p.W510in_frame_del 1.000:1.000:1.000 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729" "(deletion:cds_exon[64331808,64332110])" no_errors SPTB 6710 hgsc.bcm.edu 36 14 64332020 64332020 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 64332020 64332020 C G SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.1432 p.V478L 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729" - no_errors STRN3 29966 hgsc.bcm.edu 36 14 30494614 30494614 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 30494614 30494614 C T SNP STRN3 NM_001083893 human genbank 54_36p -1 validated silent c.423 p.L141 1 HMMPfam_Striatin "HMMPfam_Striatin,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors SYNE2 23224 hgsc.bcm.edu 36 14 63586233 63586234 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 - - - T - - Unknown Valid Somatic Phase_IV Capture SOLID SOLID 14 63586233 63586234 - T INS SYNE2 NM_182914 human genbank 54_36p 1 validated frame_shift_ins c.7529_7530 p.L2511fs 0.602:0.610 NULL "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH" - no_errors SYNE2 23224 hgsc.bcm.edu 36 14 63586268 63586268 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 63586268 63586268 C T SNP SYNE2 NM_182914 human genbank 54_36p 1 validated missense c.7564 p.L2522F 0.02 NULL "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors SYNE2 23224 hgsc.bcm.edu 36 14 63666294 63666294 + Silent SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 63666294 63666294 C T SNP SYNE2 NM_182914 human genbank 54_36p 1 validated silent c.14061 p.S4687 0.79 NULL "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors SYNE2 23224 hgsc.bcm.edu 36 14 63754929 63754929 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 63754929 63754929 G C SNP SYNE2 NM_182914 human genbank 54_36p 1 validated missense c.19603 p.G6535R 0.02 NULL "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors TECPR2 9895 hgsc.bcm.edu 36 14 101970556 101970556 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 101970556 101970556 T - DEL TECPR2 NM_014844 human genbank 54_36p 1 validated frame_shift_del c.1649 p.L550fs 0.58 NULL "PatternScan_WD_REPEATS_1,HMMSmart_WD40,superfamily_WD40_like,HMMSmart_TECPR,HMMPfam_Hyd_WA" "(deletion:cds_exon[101970325,101971301])" no_errors TECPR2 9895 hgsc.bcm.edu 36 14 101970790 101970790 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 101970790 101970790 A T SNP TECPR2 NM_014844 human genbank 54_36p 1 validated missense c.1883 p.E628V 0 NULL "HMMSmart_WD40,HMMPfam_Hyd_WA,HMMSmart_TECPR,superfamily_WD40_like,PatternScan_WD_REPEATS_1" - no_errors TEP1 7011 hgsc.bcm.edu 36 14 19921295 19921295 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 19921295 19921295 G A SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed nonsense c.3925 p.Q1309* 0.17 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT" "HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors TOX4 9878 hgsc.bcm.edu 36 14 21031164 21031164 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 14 21031164 21031164 G C SNP TOX4 NM_014828 human genbank 54_36p 1 validated missense c.1549 p.E517Q 0.99 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors TSHR 7253 hgsc.bcm.edu 36 14 80679100 80679100 + Silent SNP G G C novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 80679100 80679100 G C SNP TSHR NM_000369 human genbank 54_36p 1 reviewed silent c.945 p.V315 0.04 NULL "superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TSHR 7253 hgsc.bcm.edu 36 14 80679162 80679162 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 80679162 80679162 G A SNP TSHR NM_000369 human genbank 54_36p 1 reviewed missense c.1007 p.G336E 0.3 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like" - no_errors TSHR 7253 hgsc.bcm.edu 36 14 80679299 80679299 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 80679299 80679299 G C SNP TSHR NM_000369 human genbank 54_36p 1 reviewed missense c.1144 p.D382H 1 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like" - no_errors TSHR 7253 hgsc.bcm.edu 36 14 80679338 80679338 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 80679338 80679338 G A SNP TSHR NM_000369 human genbank 54_36p 1 reviewed missense c.1183 p.D395N 1 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like" - no_errors TSHR 7253 hgsc.bcm.edu 36 14 80679406 80679406 + Silent SNP G G C novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 80679406 80679406 G C SNP TSHR NM_000369 human genbank 54_36p 1 reviewed silent c.1251 p.L417 1 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like" - no_errors ZFP36L1 677 hgsc.bcm.edu 36 14 68329376 68329376 + Silent SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 68329376 68329376 G A SNP ZFP36L1 NM_004926 human genbank 54_36p -1 reviewed silent c.33 p.F11 1 HMMPfam_Tis11B_N "HMMPfam_Tis11B_N,superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH" - no_errors ZFYVE1 53349 hgsc.bcm.edu 36 14 72512089 72512089 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 72512089 72512089 C A SNP ZFYVE1 NM_021260 human genbank 54_36p -1 reviewed nonsense c.1729 p.G577* 0.68 superfamily_FYVE/PHD zinc finger "superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE" - no_errors ZFYVE26 23503 hgsc.bcm.edu 36 14 67302709 67302709 + Frame_Shift_Del DEL G G - novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 67302709 67302709 G - DEL ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed frame_shift_del c.5999 p.A2000fs 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" "(deletion:cds_exon[67302697,67302917])" no_errors ZFYVE26 23503 hgsc.bcm.edu 36 14 67314115 67314115 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 67314115 67314115 A C SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.4888 p.L1630V 1 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 hgsc.bcm.edu 36 14 67321709 67321709 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 67321709 67321709 C A SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.3343 p.A1115S 0.75 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ACTC1 70 hgsc.bcm.edu 36 15 32871670 32871670 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 32871670 32871670 T C SNP ACTC1 NM_005159 human genbank 54_36p -1 reviewed missense c.721 p.S241G 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors ADAMTSL3 57188 hgsc.bcm.edu 36 15 82442585 82442585 + Silent SNP A A T novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 82442585 82442585 A T SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated silent c.3201 p.A1067 0.04 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC" - no_errors ADAMTSL3 57188 hgsc.bcm.edu 36 15 82442881 82442881 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 82442881 82442881 A T SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.3497 p.N1166I 0 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors ANXA2 302 hgsc.bcm.edu 36 15 58461889 58461890 + Frame_Shift_Ins INS - - TATA novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 58461889 58461890 - TATA INS ANXA2 NM_001002858 human genbank 54_36p -1 reviewed frame_shift_ins c.146_145 p.T49fs 0.969:0.970 superfamily_Annexin "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors AP3B2 8120 hgsc.bcm.edu 36 15 81130227 81130227 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 81130227 81130227 C A SNP AP3B2 ENST00000261722 human ensembl 54_36p -1 known missense c.2148 p.E716D 0.98 NULL "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain" - no_errors ATP10A 57194 hgsc.bcm.edu 36 15 23476013 23476014 + Frame_Shift_Ins INS - - AA novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 15 23476013 23476014 - AA INS ATP10A NM_024490 human genbank 54_36p -1 reviewed frame_shift_ins c.4068_4067 p.T1357fs 0.000:0.000 NULL "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3" - no_errors ATP8B4 79895 hgsc.bcm.edu 36 15 48010714 48010714 + Silent SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 48010714 48010714 G A SNP ATP8B4 NM_024837 human genbank 54_36p -1 validated silent c.1536 p.S512 1 "superfamily_SSF81665,superfamily_SSF56784,superfamily_SSF81660" "superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3" - no_errors BNC1 646 hgsc.bcm.edu 36 15 81723828 81723828 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 81723828 81723828 G T SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.1179 p.N393K 1 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors BNC1 646 hgsc.bcm.edu 36 15 81723836 81723836 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 81723836 81723836 C T SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.1171 p.G391R 1 HMMSmart_ZnF_C2H2 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors C15orf42 90381 hgsc.bcm.edu 36 15 87946163 87946163 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 87946163 87946163 A C SNP C15orf42 NM_152259 human genbank 54_36p 1 validated missense c.2519 p.E840A 0.78 NULL NULL - no_errors CHD2 1106 hgsc.bcm.edu 36 15 91300692 91300692 + Splice_Site SNP G G C novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 91300692 91300692 G C SNP CHD2 NM_001271 human genbank 54_36p 1 reviewed splice_site c.1810-1 e15-1 1 - - - no_errors CHRM5 1133 hgsc.bcm.edu 36 15 32142634 32142634 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 32142634 32142634 C T SNP CHRM5 NM_012125 human genbank 54_36p 1 validated missense c.424 p.R142C 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CHRNA7 1139 hgsc.bcm.edu 36 15 30237996 30237996 + Silent SNP G G A rs1042722 Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 30237996 30237996 G A SNP CHRNA7 NM_000746 human genbank 54_36p 1 reviewed silent c.690 p.T230 0.18 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,superfamily_Neu_channel_TM" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors CLN6 54982 hgsc.bcm.edu 36 15 66293728 66293728 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 66293728 66293728 T - DEL CLN6 NM_017882 human genbank 54_36p -1 reviewed frame_shift_del c.251 p.Y84fs 1 NULL NULL "(deletion:cds_exon[66293682,66293780])" no_errors CORO2B 10391 hgsc.bcm.edu 36 15 66798548 66798548 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 66798548 66798548 C A SNP CORO2B NM_006091 human genbank 54_36p 1 validated nonsense c.1092 p.Y364* 1 HMMPfam_DUF1900 "HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900" - no_errors CRTC3 64784 hgsc.bcm.edu 36 15 88948681 88948681 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 88948681 88948681 C G SNP CRTC3 NM_022769 human genbank 54_36p 1 validated missense c.474 p.N158K 1 NULL NULL - no_errors CYFIP1 23191 hgsc.bcm.edu 36 15 20479891 20479891 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 20479891 20479891 G C SNP CYFIP1 NM_014608 human genbank 54_36p 1 validated missense c.327 p.E109D 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors CYFIP1 23191 hgsc.bcm.edu 36 15 20515284 20515284 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 20515284 20515284 G A SNP CYFIP1 NM_014608 human genbank 54_36p 1 validated missense c.2357 p.R786Q 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors CYP1A2 1544 hgsc.bcm.edu 36 15 72829288 72829288 + Silent SNP G G A novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 72829288 72829288 G A SNP CYP1A2 NM_000761 human genbank 54_36p 1 reviewed silent c.156 p.G52 0.89 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP1A2 1544 hgsc.bcm.edu 36 15 72829453 72829453 + Silent SNP C C A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 72829453 72829453 C A SNP CYP1A2 NM_000761 human genbank 54_36p 1 reviewed silent c.321 p.G107 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors DENND4A 10260 hgsc.bcm.edu 36 15 63797187 63797187 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 63797187 63797187 G C SNP DENND4A NM_005848 human genbank 54_36p -1 validated missense c.1790 p.S597C 1 "HMMPfam_dDENN,HMMSmart_dDENN" "HMMSmart_uDENN,HMMPfam_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_PPR" - no_errors DMXL2 23312 hgsc.bcm.edu 36 15 49579143 49579143 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A T T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 49579143 49579143 A T SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.3570 p.N1190K 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DUOX1 53905 hgsc.bcm.edu 36 15 43213718 43213718 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 43213718 43213718 C G SNP DUOX1 NM_017434 human genbank 54_36p 1 reviewed missense c.226 p.R76G 1 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" ############################################################################################################################################################################################################################################################### - no_errors DUOX1 53905 hgsc.bcm.edu 36 15 43221589 43221589 + Silent SNP T T C novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 43221589 43221589 T C SNP DUOX1 NM_017434 human genbank 54_36p 1 reviewed silent c.1809 p.C603 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DUOX1 53905 hgsc.bcm.edu 36 15 43223678 43223678 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 43223678 43223678 C G SNP DUOX1 NM_017434 human genbank 54_36p 1 reviewed missense c.2089 p.R697G 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors DUOX2 50506 hgsc.bcm.edu 36 15 43185225 43185225 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 43185225 43185225 C T SNP DUOX2 NM_014080 human genbank 54_36p -1 reviewed missense c.2242 p.E748K 0.52 NULL ############################################################################################################################################################################################################################################################### - no_errors DUOX2 50506 hgsc.bcm.edu 36 15 43186126 43186126 + Silent SNP G G A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 43186126 43186126 G A SNP DUOX2 NM_014080 human genbank 54_36p -1 reviewed silent c.1837 p.L613 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DYX1C1 161582 hgsc.bcm.edu 36 15 53510211 53510211 + Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 53510211 53510211 A T SNP DYX1C1 NM_001033559 human genbank 54_36p -1 validated nonsense c.1106 p.L369* 0.99 NULL "superfamily_HSP20_chap,HMMPfam_CS,superfamily_SSF48452,HMMPfam_TPR_1" - no_errors DYX1C1 161582 hgsc.bcm.edu 36 15 53512085 53512085 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 53512085 53512085 T A SNP DYX1C1 NM_130810 human genbank 54_36p -1 validated missense c.1055 p.E352V 1 "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like" "HMMPfam_TPR_1,superfamily_HSP20-like chaperones,HMMPfam_CS,HMMSmart_SM00028,superfamily_TPR-like" - no_errors DYX1C1 161582 hgsc.bcm.edu 36 15 53546534 53546534 + Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 53546534 53546534 T - DEL DYX1C1 NM_130810 human genbank 54_36p -1 validated frame_shift_del c.523 p.I175fs 0.03 NULL "HMMPfam_TPR_1,superfamily_HSP20-like chaperones,HMMPfam_CS,HMMSmart_SM00028,superfamily_TPR-like" "(deletion:cds_exon[53546420,53546651])" no_errors EXD1 161829 hgsc.bcm.edu 36 15 39263912 39263912 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 39263912 39263912 T G SNP EXD1 NM_152596 human genbank 54_36p -1 provisional missense c.1054 p.K352Q 0 NULL "superfamily_Ribonuclease H-like,HMMSmart_SM00474,HMMPfam_3_5_exonuc" - no_errors FMN1 342184 hgsc.bcm.edu 36 15 30878421 30878421 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 30878421 30878421 C T SNP FMN1 NM_001103184 human genbank 54_36p -1 provisional missense c.3337 p.G1113R 1 "superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" - no_errors FSIP1 161835 hgsc.bcm.edu 36 15 37697564 37697564 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 37697564 37697564 C A SNP FSIP1 NM_152597 human genbank 54_36p -1 validated nonsense c.1363 p.E455* 0 NULL NULL - no_errors FURIN 5045 hgsc.bcm.edu 36 15 89225685 89225685 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 15 89225685 89225685 G A SNP FURIN NM_002569 human genbank 54_36p 1 reviewed missense c.1958 p.G653E 1 "superfamily_Grow_fac_recept,HMMSmart_FU" "superfamily_Prot_inh_propept,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Gal_bind_like,HMMPfam_P_proprotein,HMMSmart_FU,superfamily_Grow_fac_recept" - no_errors GCNT3 9245 hgsc.bcm.edu 36 15 57698527 57698527 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 57698527 57698527 A T SNP GCNT3 NM_004751 human genbank 54_36p 1 reviewed missense c.798 p.K266N 1 HMMPfam_Branch HMMPfam_Branch - no_errors GPR176 11245 hgsc.bcm.edu 36 15 37880665 37880665 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 37880665 37880665 C A SNP GPR176 NM_007223 human genbank 54_36p -1 provisional missense c.1508 p.R503I 1 NULL "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors HCN4 10021 hgsc.bcm.edu 36 15 71404530 71404530 + Silent SNP C C T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 71404530 71404530 C T SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed silent c.1797 p.A599 0.97 "superfamily_cNMP_binding,HMMSmart_cNMP" "PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1" - no_errors HEXA 3073 hgsc.bcm.edu 36 15 70427491 70427491 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 70427491 70427491 T C SNP HEXA NM_000520 human genbank 54_36p -1 reviewed missense c.1025 p.K342R 0.45 "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" "superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" - no_errors HMG20A 10363 hgsc.bcm.edu 36 15 75550436 75550436 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 75550436 75550436 C T SNP HMG20A NM_018200 human genbank 54_36p 1 provisional nonsense c.580 p.Q194* 1 NULL "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors IL16 3603 hgsc.bcm.edu 36 15 79359025 79359025 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 79359025 79359025 C A SNP IL16 NM_172217 human genbank 54_36p 1 reviewed missense c.936 p.H312Q 0.36 superfamily_PDZ domain-like "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors IL16 3603 hgsc.bcm.edu 36 15 79372383 79372383 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 79372383 79372383 A G SNP IL16 NM_172217 human genbank 54_36p 1 reviewed missense c.1852 p.R618G 0.12 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors KIF7 374654 hgsc.bcm.edu 36 15 87989647 87989647 + Silent SNP G G A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 87989647 87989647 G A SNP KIF7 NM_198525 human genbank 54_36p -1 validated silent c.423 p.R141 0 NULL NULL - no_errors LINGO1 84894 hgsc.bcm.edu 36 15 75694900 75694900 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 75694900 75694900 G A SNP LINGO1 NM_032808 human genbank 54_36p -1 validated missense c.404 p.P135L 1 "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors MEIS2 4212 hgsc.bcm.edu 36 15 35175832 35175832 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 35175832 35175832 C T SNP MEIS2 NM_170675 human genbank 54_36p -1 reviewed missense c.337 p.V113I 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors MGA 23269 hgsc.bcm.edu 36 15 39839925 39839925 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 39839925 39839925 G A SNP MGA NM_001080541 human genbank 54_36p 1 provisional missense c.7451 p.R2484Q 1 "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" "HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2" - no_errors MGA 23269 hgsc.bcm.edu 36 15 39846076 39846076 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 39846076 39846076 A C SNP MGA NM_001080541 human genbank 54_36p 1 provisional missense c.8651 p.Q2884P 1 NULL "HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2" - no_errors MKRN3 7681 hgsc.bcm.edu 36 15 21362280 21362280 + Silent SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 21362280 21362280 G A SNP MKRN3 NM_005664 human genbank 54_36p 1 reviewed silent c.258 p.P86 0 NULL "HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors MPI 4351 hgsc.bcm.edu 36 15 72975547 72975547 + Silent SNP G G A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 72975547 72975547 G A SNP MPI NM_002435 human genbank 54_36p 1 reviewed silent c.672 p.A224 1 "superfamily_RmlC-like cupins,HMMPfam_PMI_typeI" "superfamily_RmlC-like cupins,HMMPfam_PMI_typeI,PatternScan_PMI_I_1,PatternScan_PMI_I_2" - no_errors MTFMT 123263 hgsc.bcm.edu 36 15 63095844 63095844 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 63095844 63095844 G T SNP MTFMT NM_139242 human genbank 54_36p -1 validated missense c.541 p.R181S 0.98 "HMMPfam_Formyl_trans_C,superfamily_FMT C-terminal domain-like" "HMMPfam_Formyl_trans_N,superfamily_Formyltransferase,HMMPfam_Formyl_trans_C,superfamily_FMT C-terminal domain-like" - no_errors MYO5A 4644 hgsc.bcm.edu 36 15 50393636 50393636 + Silent SNP A A G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 50393636 50393636 A G SNP MYO5A NM_000259 human genbank 54_36p -1 reviewed silent c.5391 p.S1797 0.61 NULL "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors MYO5C 55930 hgsc.bcm.edu 36 15 50340571 50340571 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 50340571 50340571 C G SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.1093 p.E365Q 0.95 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors MYO9A 4649 hgsc.bcm.edu 36 15 69909696 69909696 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 69909696 69909696 C T SNP MYO9A NM_006901 human genbank 54_36p -1 validated missense c.6848 p.R2283H 0.96 NULL ############################################################################################################################################################################################################################################################### - no_errors NTRK3 4916 hgsc.bcm.edu 36 15 86224606 86224606 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 86224606 86224606 G A SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed missense c.2233 p.R745W 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors NTRK3 4916 hgsc.bcm.edu 36 15 86377174 86377174 + Silent SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 86377174 86377174 C G SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed silent c.1503 p.V501 1 NULL ############################################################################################################################################################################################################################################################### - no_errors OCA2 4948 hgsc.bcm.edu 36 15 25870554 25870554 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 25870554 25870554 G C SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed missense c.1922 p.S641W 1 HMMPfam_CitMHS HMMPfam_CitMHS - no_errors OR4F4 26682 hgsc.bcm.edu 36 15 100280710 100280711 + Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 100280710 100280711 - A INS OR4F4 NM_001004195 human genbank 54_36p -1 provisional frame_shift_ins c.76_75 p.V25fs 0.000:0.000 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PAQR5 54852 hgsc.bcm.edu 36 15 67464184 67464184 + Silent SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 67464184 67464184 C T SNP PAQR5 NM_001104554 human genbank 54_36p 1 validated silent c.294 p.S98 1 HMMPfam_HlyIII HMMPfam_HlyIII - no_errors PLA2G4D 283748 hgsc.bcm.edu 36 15 40164629 40164629 + Splice_Site SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 40164629 40164629 C T SNP PLA2G4D NM_178034 human genbank 54_36p -1 validated splice_site c.429-1 e6-1 0.46 - - - no_errors PLA2G4E 123745 hgsc.bcm.edu 36 15 40089630 40089630 + Frame_Shift_Del DEL A A - novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 40089630 40089630 A - DEL PLA2G4E NM_001080490 human genbank 54_36p -1 provisional frame_shift_del c.108 p.A39fs 0 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" "(deletion:cds_exon[40089569,40089737])" no_errors PRC1 9055 hgsc.bcm.edu 36 15 89313802 89313802 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 15 89313802 89313802 C A SNP PRC1 NM_003981 human genbank 54_36p -1 reviewed missense c.1628 p.G543V 0.03 HMMPfam_MAP65_ASE1 HMMPfam_MAP65_ASE1 - no_errors PSTPIP1 9051 hgsc.bcm.edu 36 15 75097609 75097609 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 75097609 75097609 G C SNP PSTPIP1 NM_003978 human genbank 54_36p 1 reviewed missense c.102 p.K34N 1 "HMMPfam_FCH,HMMSmart_SM00055,superfamily_Prismane protein-like" "HMMPfam_FCH,HMMSmart_SM00055,superfamily_Prismane protein-like,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors PYGO1 26108 hgsc.bcm.edu 36 15 53628417 53628417 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 53628417 53628417 G A SNP PYGO1 NM_015617 human genbank 54_36p -1 provisional missense c.118 p.R40C 1 NULL "superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,PatternScan_ZF_PHD_1" - no_errors RAD51 5888 hgsc.bcm.edu 36 15 38788604 38788604 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 38788604 38788604 C T SNP RAD51 NM_002875 human genbank 54_36p 1 reviewed nonsense c.433 p.Q145* 1 "HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" "superfamily_Rad51 N-terminal domain-like,HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors RYR3 6263 hgsc.bcm.edu 36 15 31924372 31924374 + In_Frame_Del DEL AGA AGA - novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 AGA AGA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 31924372 31924374 AGA - DEL RYR3 NM_001036 human genbank 54_36p 1 validated in_frame_del c.13314_13316 p.E4441in_frame_del 0.840:0.998:0.998 HMMPfam_RR_TM4-6 "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" "(deletion:cds_exon[31924355,31924555])" no_errors SCG5 6447 hgsc.bcm.edu 36 15 30776074 30776074 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 30776074 30776074 T C SNP SCG5 NM_003020 human genbank 54_36p 1 validated missense c.608 p.F203S 1 HMMPfam_Secretogranin_V HMMPfam_Secretogranin_V - no_errors SIN3A 25942 hgsc.bcm.edu 36 15 73469099 73469099 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 73469099 73469099 G A SNP SIN3A NM_015477 human genbank 54_36p -1 reviewed missense c.2968 p.H990Y 1 NULL "superfamily_PAH,HMMPfam_PAH,HMMPfam_HDAC_interact,HMMSmart_HDAC_interact" - no_errors SLC12A6 9990 hgsc.bcm.edu 36 15 32320198 32320198 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 32320198 32320198 C A SNP SLC12A6 NM_133647 human genbank 54_36p -1 reviewed missense c.2392 p.G798W 1 NULL "HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1" - no_errors SLC12A6 9990 hgsc.bcm.edu 36 15 32330137 32330141 + Frame_Shift_Del DEL GGTCA GGTCA - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 GGTCA GGTCA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 32330137 32330141 GGTCA - DEL SLC12A6 NM_133647 human genbank 54_36p -1 reviewed frame_shift_del c.1578_1574 p.L525fs 1.000:1.000:1.000:0.995:0.994 HMMPfam_AA_permease "HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1" "(deletion:cds_exon[32330124,32330222])" no_errors SLC27A2 11001 hgsc.bcm.edu 36 15 48277034 48277034 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 48277034 48277034 A G SNP SLC27A2 NM_003645 human genbank 54_36p 1 reviewed missense c.524 p.D175G 0.91 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors SLC28A1 9154 hgsc.bcm.edu 36 15 83248464 83248464 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 83248464 83248464 T A SNP SLC28A1 NM_004213 human genbank 54_36p 1 validated missense c.594 p.H198Q 0.94 HMMPfam_Nucleos_tra2_N "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SLTM 79811 hgsc.bcm.edu 36 15 56976705 56976705 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 56976705 56976705 A G SNP SLTM ENST00000249735 human ensembl 54_36p -1 known missense c.461 p.V154A 1 NULL "superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" - no_errors SPG11 80208 hgsc.bcm.edu 36 15 42699756 42699756 + Silent SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 42699756 42699756 G A SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed silent c.2758 p.L920 1 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors SPRED1 161742 hgsc.bcm.edu 36 15 36430643 36430643 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 36430643 36430643 A C SNP SPRED1 NM_152594 human genbank 54_36p 1 reviewed missense c.821 p.D274A 1 NULL "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_Sprouty" - no_errors SQRDL 58472 hgsc.bcm.edu 36 15 43741448 43741448 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 43741448 43741448 C T SNP SQRDL NM_021199 human genbank 54_36p 1 provisional missense c.238 p.H80Y 1 "superfamily_SSF51905,HMMPfam_Pyr_redox_2" "superfamily_SSF51905,HMMPfam_Pyr_redox_2" - no_errors TARSL2 123283 hgsc.bcm.edu 36 15 100043682 100043682 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 100043682 100043682 A C SNP TARSL2 NM_152334 human genbank 54_36p -1 validated missense c.1427 p.F476C 1 "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b" "HMMPfam_TGS,superfamily_TGS-like,superfamily_ThrRS/AlaRS common domain,HMMPfam_tRNA_SAD,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors TBC1D21 161514 hgsc.bcm.edu 36 15 71964280 71964280 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 71964280 71964280 A T SNP TBC1D21 NM_153356 human genbank 54_36p 1 provisional missense c.473 p.Q158L 0.98 "superfamily_RabGAP_TBC,HMMSmart_TBC" "superfamily_RabGAP_TBC,HMMSmart_TBC" - no_errors TBC1D21 161514 hgsc.bcm.edu 36 15 71965556 71965556 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 71965556 71965556 G C SNP TBC1D21 NM_153356 human genbank 54_36p 1 provisional missense c.664 p.A222P 1 "HMMSmart_TBC,superfamily_RabGAP_TBC" "HMMSmart_TBC,superfamily_RabGAP_TBC" - no_errors THAP10 56906 hgsc.bcm.edu 36 15 68961967 68961967 + Silent SNP T T C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 68961967 68961967 T C SNP THAP10 NM_020147 human genbank 54_36p -1 provisional silent c.654 p.R218 0 NULL "HMMPfam_THAP,HMMSmart_SM00692" - no_errors TLN2 83660 hgsc.bcm.edu 36 15 60827911 60827911 + Silent SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 60827911 60827911 C T SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed silent c.4095 p.C1365 1 NULL "PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ" - no_errors TM2D3 80213 hgsc.bcm.edu 36 15 100000284 100000284 + Missense_Mutation SNP A A T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 100000284 100000284 A T SNP TM2D3 NM_078474 human genbank 54_36p -1 reviewed missense c.665 p.L222Q 1 HMMPfam_TM2 HMMPfam_TM2 - no_errors TMCO5A 145942 hgsc.bcm.edu 36 15 36022863 36022863 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 15 36022863 36022863 A G SNP TMCO5A NM_152453 human genbank 54_36p 1 provisional missense c.599 p.E200G 0 NULL NULL - no_errors TMEM62 80021 hgsc.bcm.edu 36 15 41226042 41226042 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 41226042 41226042 G A SNP TMEM62 NM_024956 human genbank 54_36p 1 provisional missense c.536 p.G179D 1 superfamily_SSF56300 superfamily_SSF56300 - no_errors TMOD2 29767 hgsc.bcm.edu 36 15 49846027 49846027 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 15 49846027 49846027 G C SNP TMOD2 NM_014548 human genbank 54_36p 1 reviewed missense c.97 p.E33Q 1 HMMPfam_Tropomodulin "HMMPfam_Tropomodulin,superfamily_SSF52047" - no_errors TP53BP1 7158 hgsc.bcm.edu 36 15 41507627 41507627 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 41507627 41507627 G A SNP TP53BP1 NM_005657 human genbank 54_36p -1 validated missense c.3692 p.P1231L 1 NULL "HMMPfam_53-BP1_Tudor,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00292,superfamily_BRCT domain,HMMPfam_BRCT" - no_errors TP53BP1 7158 hgsc.bcm.edu 36 15 41558900 41558900 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 15 41558900 41558900 G A SNP TP53BP1 NM_005657 human genbank 54_36p -1 validated missense c.760 p.P254S 0 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMPfam_53-BP1_Tudor,superfamily_Tudor/PWWP/MBT" - no_errors TYRO3 7301 hgsc.bcm.edu 36 15 39644530 39644530 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 15 39644530 39644530 C T SNP TYRO3 NM_006293 human genbank 54_36p 1 provisional missense c.682 p.P228S 1 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors UBL7 84993 hgsc.bcm.edu 36 15 72530914 72530914 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 72530914 72530914 C T SNP UBL7 NM_032907 human genbank 54_36p -1 validated missense c.388 p.V130I 1 NULL "HMMSmart_UBQ,superfamily_SSF54236,HMMPfam_ubiquitin,superfamily_UBA_like,HMMPfam_UBA,HMMSmart_UBA" - no_errors ZFP106 64397 hgsc.bcm.edu 36 15 40521625 40521625 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 15 40521625 40521625 T C SNP ZFP106 NM_022473 human genbank 54_36p -1 provisional missense c.3632 p.N1211S 0.4 NULL "PatternScan_WD_REPEATS_1,HMMSmart_ZnF_C2H2,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMSmart_PQQ,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF592 9640 hgsc.bcm.edu 36 15 83143379 83143379 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 15 83143379 83143379 C A SNP ZNF592 NM_014630 human genbank 54_36p 1 validated missense c.3071 p.T1024N 0.99 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ABCA3 21 hgsc.bcm.edu 36 16 2276769 2276769 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 2276769 2276769 G A SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.3205 p.H1069Y 0.04 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA3 21 hgsc.bcm.edu 36 16 2279473 2279473 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 2279473 2279473 A G SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.2663 p.I888T 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCC1 4363 hgsc.bcm.edu 36 16 16037833 16037833 + Silent SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 16037833 16037833 G A SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed silent c.681 p.L227 1 NULL "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC12 94160 hgsc.bcm.edu 36 16 46732202 46732202 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 46732202 46732202 G A SNP ABCC12 NM_033226 human genbank 54_36p -1 reviewed missense c.554 p.A185V 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ACSM3 6296 hgsc.bcm.edu 36 16 20688980 20688980 + Silent SNP C C G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 20688980 20688980 C G SNP ACSM3 NM_005622 human genbank 54_36p 1 validated silent c.123 p.S41 0.67 superfamily_Acetyl-CoA synthetase-like "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ADCY7 113 hgsc.bcm.edu 36 16 48898514 48898515 + In_Frame_Ins INS - - GTG novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 48898514 48898515 - GTG INS ADCY7 NM_001114 human genbank 54_36p 1 reviewed in_frame_ins c.1805_1806 p.603in_frame_insW 0.472:0.482 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors AP1G1 164 hgsc.bcm.edu 36 16 70330380 70330380 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 70330380 70330380 A G SNP AP1G1 NM_001030007 human genbank 54_36p -1 reviewed missense c.2243 p.M748T 1 "superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809" "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809" - no_errors ARHGAP17 55114 hgsc.bcm.edu 36 16 24866326 24866328 + In_Frame_Del DEL AGT AGT - novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 AGT AGT . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 24866326 24866328 AGT - DEL ARHGAP17 NM_001006634 human genbank 54_36p -1 validated in_frame_del c.1219_1217 p.NL406in_frame_delM 1.000:1.000:1.000 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "HMMPfam_BAR,HMMSmart_SM00721,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,PatternScan_AA_TRNA_LIGASE_I" "(deletion:cds_exon[24866304,24866417])" no_errors ATF7IP2 80063 hgsc.bcm.edu 36 16 10432514 10432514 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 10432514 10432514 A G SNP ATF7IP2 NM_024997 human genbank 54_36p 1 validated missense c.536 p.Q179R 0 NULL NULL - no_errors ATP2A1 487 hgsc.bcm.edu 36 16 28820694 28820694 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 28820694 28820694 G T SNP ATP2A1 NM_173201 human genbank 54_36p 1 reviewed missense c.2110 p.G704C 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_HAD-like" ############################################################################################################################################################################################################################################################### - no_errors BFAR 51283 hgsc.bcm.edu 36 16 14656541 14656542 + Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 14656541 14656542 - C INS BFAR NM_016561 human genbank 54_36p 1 provisional frame_shift_ins c.756_757 p.Q254fs 1.000:1.000 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors SLX4 84464 hgsc.bcm.edu 36 16 3596513 3596513 + Silent SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 3596513 3596513 G C SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional silent c.723 p.V241 0.04 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors C16orf5 29965 hgsc.bcm.edu 36 16 4502578 4502578 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 4502578 4502578 C A SNP C16orf5 NM_013399 human genbank 54_36p -1 validated missense c.623 p.C208F 1 NULL "HMMSmart_SM00714,HMMPfam_zf-LITAF-like" - no_errors C16orf70 80262 hgsc.bcm.edu 36 16 65738489 65738490 + Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 65738489 65738490 - C INS C16orf70 NM_025187 human genbank 54_36p 1 provisional frame_shift_ins c.1223_1224 p.R411fs 1.000:1.000 NULL HMMPfam_UPF0183 - no_errors C16orf79 283870 hgsc.bcm.edu 36 16 2199694 2199694 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 2199694 2199694 C A SNP C16orf79 NM_182563 human genbank 54_36p -1 predicted missense c.453 p.W151C 0 NULL NULL - no_errors C16orf89 146556 hgsc.bcm.edu 36 16 5055851 5055851 + Silent SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 5055851 5055851 G A SNP C16orf89 NM_152459 human genbank 54_36p -1 validated silent c.174 p.S58 0.24 NULL PatternScan_GLYCO_HORMONE_BETA_1 - no_errors CACNG3 10368 hgsc.bcm.edu 36 16 24265611 24265611 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 24265611 24265611 C A SNP CACNG3 NM_006539 human genbank 54_36p 1 reviewed nonsense c.267 p.Y89* 1 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors CACNG3 10368 hgsc.bcm.edu 36 16 24265617 24265617 + Silent SNP G G A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 24265617 24265617 G A SNP CACNG3 NM_006539 human genbank 54_36p 1 reviewed silent c.273 p.Q91 0.98 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors CCL17 6361 hgsc.bcm.edu 36 16 56006603 56006603 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 56006603 56006603 T A SNP CCL17 NM_002987 human genbank 54_36p 1 reviewed missense c.180 p.D60E 0.04 "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CC" "HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CC" - no_errors CCNF 899 hgsc.bcm.edu 36 16 2435507 2435507 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 2435507 2435507 T C SNP CCNF NM_001761 human genbank 54_36p 1 reviewed missense c.977 p.F326S 1 "HMMPfam_Cyclin_N,superfamily_Cyclin_like,PatternScan_CYCLINS,HMMSmart_CYCLIN" "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,HMMPfam_Cyclin_N,superfamily_Cyclin_like,PatternScan_CYCLINS,HMMSmart_CYCLIN,HMMPfam_Cyclin_C" - no_errors CDH1 999 hgsc.bcm.edu 36 16 67403201 67403201 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A G A A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 67403201 67403201 A G SNP CDH1 NM_004360 human genbank 54_36p 1 reviewed missense c.946 p.M316V 0.91 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH11 1009 hgsc.bcm.edu 36 16 63539460 63539460 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 63539460 63539460 T A SNP CDH11 NM_001797 human genbank 54_36p -1 reviewed missense c.1938 p.E646D 1 HMMPfam_Cadherin_C "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH5 1003 hgsc.bcm.edu 36 16 64978238 64978238 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 64978238 64978238 A C SNP CDH5 NM_001795 human genbank 54_36p 1 reviewed missense c.236 p.N79T 0.99 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CES5A 221223 hgsc.bcm.edu 36 16 54438072 54438072 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 54438072 54438072 G A SNP CES7 NM_145024 human genbank 54_36p -1 validated missense c.1370 p.S457F 0.24 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1" - no_errors CES5A 221223 hgsc.bcm.edu 36 16 54452929 54452929 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 54452929 54452929 G T SNP CES7 NM_145024 human genbank 54_36p -1 validated missense c.811 p.L271M 0.99 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,superfamily_SSF53474" - no_errors CIITA 4261 hgsc.bcm.edu 36 16 10908922 10908922 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 10908922 10908922 C A SNP CIITA NM_000246 human genbank 54_36p 1 reviewed missense c.2072 p.A691D 0 NULL "HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,HMMPfam_LRR_1" - no_errors CLCN7 1186 hgsc.bcm.edu 36 16 1455272 1455272 + Silent SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G A A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 1455272 1455272 G A SNP CLCN7 NM_001287 human genbank 54_36p -1 reviewed silent c.210 p.D70 1 NULL "superfamily_Cl-channel_core,HMMPfam_Voltage_CLC,HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631" - no_errors CLEC16A 23274 hgsc.bcm.edu 36 16 10972560 10972560 + Silent SNP A A G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 10972560 10972560 A G SNP CLEC16A NM_015226 human genbank 54_36p 1 validated silent c.570 p.V190 0.99 HMMPfam_FPL "HMMPfam_FPL,PatternScan_C_TYPE_LECTIN_1" - no_errors CREBBP 1387 hgsc.bcm.edu 36 16 3729725 3729725 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 3729725 3729725 A C SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.4135 p.F1379V 1 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors CREBBP 1387 hgsc.bcm.edu 36 16 3730513 3730513 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 3730513 3730513 G A SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed nonsense c.4021 p.R1341* 1 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors CREBBP 1387 hgsc.bcm.edu 36 16 3759258 3759258 + Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 3759258 3759258 G - DEL CREBBP NM_004380 human genbank 54_36p -1 reviewed frame_shift_del c.2978 p.P993fs 0.02 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[3759176,3759355])" no_errors CREBBP 1387 hgsc.bcm.edu 36 16 3760802 3760802 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 3760802 3760802 C T SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.2650 p.A884T 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DNAH3 55567 hgsc.bcm.edu 36 16 20888755 20888755 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 20888755 20888755 G A SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.8318 p.A2773V 0.98 NULL "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy" - no_errors DPEP3 64180 hgsc.bcm.edu 36 16 66567359 66567360 + Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 66567359 66567360 - A INS DPEP3 NM_022357 human genbank 54_36p -1 reviewed frame_shift_ins c.1352_1351 p.P451fs 0.372:0.400 superfamily_Metallo-dependent hydrolases "superfamily_Metallo-dependent hydrolases,HMMPfam_Peptidase_M19,PatternScan_RENAL_DIPEPTIDASE_1" - no_errors DUS2L 54920 hgsc.bcm.edu 36 16 66668099 66668100 + Frame_Shift_Del DEL GT GT - novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 GT GT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 66668099 66668100 GT - DEL DUS2L NM_017803 human genbank 54_36p 1 provisional frame_shift_del c.1146_1147 p.K382fs 1.000:0.985 "superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" "superfamily_FMN-linked oxidoreductases,HMMPfam_Dus,PatternScan_UPF0034,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" "(deletion:cds_exon[66668036,66668123])" no_errors EEF2K 29904 hgsc.bcm.edu 36 16 22185533 22185533 + Nonsense_Mutation SNP C C G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 22185533 22185533 C G SNP EEF2K NM_013302 human genbank 54_36p 1 reviewed nonsense c.1599 p.Y533* 1 HMMPfam_Sel1 "superfamily_Kinase_like,HMMSmart_Alpha_kinase,HMMPfam_Alpha_kinase,HMMPfam_Sel1,superfamily_SSF81901" - no_errors ERN2 10595 hgsc.bcm.edu 36 16 23611111 23611111 + Missense_Mutation SNP A A T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 23611111 23611111 A T SNP ERN2 NM_033266 human genbank 54_36p -1 validated missense c.2287 p.Y763N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors FAM65A 79567 hgsc.bcm.edu 36 16 66134424 66134424 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 66134424 66134424 C A SNP FAM65A NM_024519 human genbank 54_36p 1 validated nonsense c.2234 p.S745* 0.01 NULL superfamily_ARM-type_fold - no_errors FANCA 2175 hgsc.bcm.edu 36 16 88342636 88342636 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 88342636 88342636 T C SNP FANCA NM_000135 human genbank 54_36p -1 reviewed missense c.3280 p.S1094G 0 NULL HMMPfam_Fanconi_A - no_errors FANCA 2175 hgsc.bcm.edu 36 16 88343806 88343807 + Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 88343806 88343807 - A INS FANCA NM_000135 human genbank 54_36p -1 reviewed frame_shift_ins c.3072_3071 p.M1024fs 0.930:0.983 NULL HMMPfam_Fanconi_A - no_errors FANCA 2175 hgsc.bcm.edu 36 16 88376984 88376984 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 88376984 88376984 G C SNP FANCA NM_000135 human genbank 54_36p -1 reviewed missense c.1498 p.P500A 0.75 NULL HMMPfam_Fanconi_A - no_errors FBXO31 79791 hgsc.bcm.edu 36 16 85951471 85951471 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 85951471 85951471 A G SNP FBXO31 NM_024735 human genbank 54_36p -1 validated missense c.343 p.Y115H 1 superfamily_F-box domain "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256" - no_errors FUK 197258 hgsc.bcm.edu 36 16 69055049 69055049 + Silent SNP G G T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 69055049 69055049 G T SNP FUK NM_145059 human genbank 54_36p 1 reviewed silent c.105 p.R35 0.4 NULL "HMMPfam_Fucokinase,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_GHMP_kinases_N,superfamily_GHMP Kinase C-terminal domain,HMMPfam_GHMP_kinases_C" - no_errors GABARAPL2 11345 hgsc.bcm.edu 36 16 74168751 74168751 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 74168751 74168751 A G SNP GABARAPL2 NM_007285 human genbank 54_36p 1 provisional missense c.337 p.N113D 1 "superfamily_Ubiquitin-like,HMMPfam_MAP1_LC3" "superfamily_Ubiquitin-like,HMMPfam_MAP1_LC3" - no_errors GLG1 2734 hgsc.bcm.edu 36 16 73057104 73057104 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 73057104 73057104 G A SNP GLG1 NM_012201 human genbank 54_36p -1 validated missense c.2638 p.L880F 1 HMMPfam_Cys_rich_FGFR HMMPfam_Cys_rich_FGFR - no_errors GLG1 2734 hgsc.bcm.edu 36 16 73057108 73057108 + Nonsense_Mutation SNP G G C novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 73057108 73057108 G C SNP GLG1 NM_012201 human genbank 54_36p -1 validated nonsense c.2634 p.Y878* 0.85 HMMPfam_Cys_rich_FGFR HMMPfam_Cys_rich_FGFR - no_errors GLIS2 84662 hgsc.bcm.edu 36 16 4323357 4323358 + Frame_Shift_Ins INS - - T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 4323357 4323358 - T INS GLIS2 NM_032575 human genbank 54_36p 1 validated frame_shift_ins c.181_182 p.N62fs 1.000:1.000 NULL "superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors GP2 2813 hgsc.bcm.edu 36 16 20243023 20243023 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 20243023 20243023 G C SNP GP2 NM_001007240 human genbank 54_36p -1 validated missense c.151 p.P51A 0.1 NULL "HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors GP2 2813 hgsc.bcm.edu 36 16 20243031 20243031 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 20243031 20243031 C G SNP GP2 NM_001007240 human genbank 54_36p -1 validated missense c.143 p.C48S 0.13 NULL "HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors GPR114 221188 hgsc.bcm.edu 36 16 56158066 56158067 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 56158066 56158067 - G INS GPR114 NM_153837 human genbank 54_36p 1 provisional frame_shift_ins c.601_602 p.W204fs 0.479:0.999 "HMMPfam_GPS,HMMSmart_SM00303" "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors GPT2 84706 hgsc.bcm.edu 36 16 45489108 45489108 + Silent SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 45489108 45489108 C T SNP GPT2 NM_133443 human genbank 54_36p 1 validated silent c.291 p.D97 0.97 superfamily_PLP-dependent transferases "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" - no_errors GRIN2A 2903 hgsc.bcm.edu 36 16 9765235 9765235 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 9765235 9765235 T A SNP GRIN2A NM_000833 human genbank 54_36p -1 reviewed missense c.3667 p.T1223S 1 HMMPfam_NMDAR2_C "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C" - no_errors HAGH 3029 hgsc.bcm.edu 36 16 1812926 1812926 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 1812926 1812926 G C SNP HAGH NM_005326 human genbank 54_36p -1 reviewed missense c.190 p.L64V 1 "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B" "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B" - no_errors HYDIN 54768 hgsc.bcm.edu 36 16 69418777 69418777 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 69418777 69418777 G A SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.14312 p.P4771L 0.03 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 hgsc.bcm.edu 36 16 69453539 69453539 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 69453539 69453539 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.11687 p.G3896E 0.09 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 hgsc.bcm.edu 36 16 69556200 69556200 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 69556200 69556200 T A SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.5717 p.K1906I 0.98 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 hgsc.bcm.edu 36 16 69619066 69619066 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 69619066 69619066 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.2982 p.M994I 1 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors IFT140 9742 hgsc.bcm.edu 36 16 1515306 1515306 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 1515306 1515306 G A SNP IFT140 NM_014714 human genbank 54_36p -1 validated missense c.2791 p.R931C 0.99 superfamily_TPR-like "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_TPR-like" - no_errors ITGAL 3683 hgsc.bcm.edu 36 16 30414931 30414931 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 30414931 30414931 G A SNP ITGAL NM_002209 human genbank 54_36p 1 reviewed missense c.1516 p.E506K 0 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors JMJD5 79831 hgsc.bcm.edu 36 16 27129006 27129006 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 27129006 27129006 G T SNP JMJD5 NM_024773 human genbank 54_36p 1 reviewed missense c.61 p.A21S 0.86 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558" - no_errors KIAA0182 23199 hgsc.bcm.edu 36 16 84225055 84225055 + Silent SNP G G A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 84225055 84225055 G A SNP KIAA0182 NM_014615 human genbank 54_36p 1 validated silent c.42 p.G14 1 NULL NULL - no_errors KIAA0430 9665 hgsc.bcm.edu 36 16 15637141 15637141 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 15637141 15637141 C A SNP KIAA0430 NM_014647 human genbank 54_36p -1 validated missense c.704 p.G235V 0.98 NULL "HMMPfam_DUF537,superfamily_RNA-binding domain RBD,HMMSmart_SM00360" - no_errors KIAA0430 9665 hgsc.bcm.edu 36 16 15637503 15637506 + Frame_Shift_Del DEL CATT CATT - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 CATT CATT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 15637503 15637506 CATT - DEL KIAA0430 NM_014647 human genbank 54_36p -1 validated frame_shift_del c.342_339 p.M114fs 0.242:0.232:0.142:0.134 NULL "HMMSmart_SM00360,HMMPfam_DUF537,superfamily_RNA-binding domain RBD" "(deletion:cds_exon[15637014,15637700])" no_errors KIAA0556 23247 hgsc.bcm.edu 36 16 27537315 27537315 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 27537315 27537315 G C SNP KIAA0556 NM_015202 human genbank 54_36p 1 validated missense c.132 p.Q44H 1 NULL "superfamily_Galactose-binding domain-like,PatternScan_AKH" - no_errors MGRN1 23295 hgsc.bcm.edu 36 16 4640454 4640455 + Frame_Shift_Ins INS - - GCCG novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 4640454 4640455 - GCCG INS MGRN1 NM_015246 human genbank 54_36p 1 validated frame_shift_ins c.176_177 p.D59fs 1.000:1.000 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors MVP 9961 hgsc.bcm.edu 36 16 29759024 29759024 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 29759024 29759024 C A SNP MVP NM_005115 human genbank 54_36p 1 reviewed missense c.934 p.P312T 1 HMMPfam_Vault HMMPfam_Vault - no_errors MYH11 4629 hgsc.bcm.edu 36 16 15761906 15761906 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 15761906 15761906 T C SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.1261 p.K421E 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH11 4629 hgsc.bcm.edu 36 16 15777486 15777486 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 15777486 15777486 G C SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.860 p.T287R 0.99 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors N4BP1 9683 hgsc.bcm.edu 36 16 47153235 47153235 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 47153235 47153235 C G SNP N4BP1 NM_153029 human genbank 54_36p -1 validated missense c.820 p.E274Q 0.41 NULL NULL - no_errors NAE1 8883 hgsc.bcm.edu 36 16 65400416 65400416 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 65400416 65400416 T G SNP NAE1 NM_003905 human genbank 54_36p -1 reviewed missense c.1214 p.D405A 1 superfamily_Activating enzymes of the ubiquitin-like proteins "superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF" - no_errors NLRC5 84166 hgsc.bcm.edu 36 16 55673842 55673842 + Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 55673842 55673842 C - DEL NLRC5 NM_032206 human genbank 54_36p 1 validated frame_shift_del c.5502 p.I1836fs 0.14 superfamily_RNI-like "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368,HMMPfam_LRR_1" "(deletion:cds_exon[55673830,55673941])" no_errors NOMO2 283820 hgsc.bcm.edu 36 16 18427994 18427994 + Silent SNP A A G rs8921 Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 18427994 18427994 A G SNP NOMO2 NM_001004060 human genbank 54_36p -1 reviewed silent c.3318 p.D1106 1 NULL "superfamily_Starch-binding domain-like,HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain" - no_errors NOMO2 283820 hgsc.bcm.edu 36 16 18436033 18436033 + Silent SNP G G T rs393246 Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 18436033 18436033 G T SNP NOMO2 NM_001004060 human genbank 54_36p -1 reviewed silent c.2736 p.G912 1 "HMMPfam_Cna_B,superfamily_Starch-binding domain-like" "HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain,superfamily_Starch-binding domain-like" - no_errors NOMO2 283820 hgsc.bcm.edu 36 16 18457472 18457472 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 18457472 18457472 C T SNP NOMO2 NM_001004060 human genbank 54_36p -1 reviewed missense c.1097 p.R366H 1 superfamily_Starch-binding domain-like "HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain,superfamily_Starch-binding domain-like" - no_errors OTOA 146183 hgsc.bcm.edu 36 16 21647159 21647159 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 21647159 21647159 G A SNP OTOA NM_144672 human genbank 54_36p 1 provisional missense c.2113 p.A705T 1 NULL NULL - no_errors PHKG2 5261 hgsc.bcm.edu 36 16 30675919 30675919 + Silent SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 30675919 30675919 G A SNP PHKG2 NM_000294 human genbank 54_36p 1 provisional silent c.1221 p.*407 0.22 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PLA2G15 23659 hgsc.bcm.edu 36 16 66840782 66840782 + Silent SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 66840782 66840782 C T SNP PLA2G15 NM_012320 human genbank 54_36p 1 reviewed silent c.216 p.Y72 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_LACT" "superfamily_alpha/beta-Hydrolases,HMMPfam_LACT" - no_errors PLA2G15 23659 hgsc.bcm.edu 36 16 66850922 66850923 + Frame_Shift_Del DEL GT GT - novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 GT GT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 66850922 66850923 GT - DEL PLA2G15 NM_012320 human genbank 54_36p 1 reviewed frame_shift_del c.1100_1101 p.A368fs 1.000:0.990 "HMMPfam_LACT,superfamily_alpha/beta-Hydrolases" "HMMPfam_LACT,superfamily_alpha/beta-Hydrolases" "(deletion:cds_exon[66850550,66851061])" no_errors PRKCB 5579 hgsc.bcm.edu 36 16 23907388 23907388 + Silent SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 23907388 23907388 C T SNP PRKCB NM_002738 human genbank 54_36p 1 reviewed silent c.264 p.G88 0.82 "superfamily_Cysteine-rich domain,HMMPfam_C1_1" ############################################################################################################################################################################################################################################################### - no_errors PRSS27 83886 hgsc.bcm.edu 36 16 2703552 2703552 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 2703552 2703552 C G SNP PRSS27 NM_031948 human genbank 54_36p -1 validated missense c.657 p.E219D 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors RBBP6 5930 hgsc.bcm.edu 36 16 24485992 24485992 + Silent SNP C C T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 24485992 24485992 C T SNP RBBP6 NM_006910 human genbank 54_36p 1 reviewed silent c.1617 p.S539 1 NULL "HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00184" - no_errors RBBP6 5930 hgsc.bcm.edu 36 16 24486179 24486179 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 24486179 24486179 C T SNP RBBP6 NM_006910 human genbank 54_36p 1 reviewed missense c.1804 p.P602S 1 NULL "HMMSmart_SM00184,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_U-box,HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,superfamily_RING/U-box" - no_errors RBBP6 5930 hgsc.bcm.edu 36 16 24489826 24489826 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 24489826 24489826 T C SNP RBBP6 NM_006910 human genbank 54_36p 1 reviewed missense c.3938 p.M1313T 1 NULL "HMMSmart_SM00184,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_U-box,HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,superfamily_RING/U-box" - no_errors RBL2 5934 hgsc.bcm.edu 36 16 52055717 52055717 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 52055717 52055717 C G SNP RBL2 NM_005611 human genbank 54_36p 1 validated missense c.1639 p.P547A 1 "HMMPfam_RB_A,superfamily_Cyclin_like" "HMMSmart_CYCLIN,HMMPfam_RB_A,superfamily_Cyclin_like,HMMPfam_RB_B" - no_errors RRN3 54700 hgsc.bcm.edu 36 16 15066636 15066636 + Frame_Shift_Del DEL C C - novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 15066636 15066636 C - DEL RRN3 NM_018427 human genbank 54_36p -1 validated frame_shift_del c.1647 p.Q550fs 1 HMMPfam_RRN3 HMMPfam_RRN3 "(deletion:cds_exon[15066577,15066729])" no_errors SALL1 6299 hgsc.bcm.edu 36 16 49731057 49731057 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 49731057 49731057 C G SNP SALL1 NM_002968 human genbank 54_36p -1 reviewed missense c.2577 p.E859D 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors SH2B1 25970 hgsc.bcm.edu 36 16 28791510 28791510 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 28791510 28791510 C T SNP SH2B1 NM_015503 human genbank 54_36p 1 reviewed missense c.1880 p.S627F 1 superfamily_SH2 domain "HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors SIAH1 6477 hgsc.bcm.edu 36 16 46953802 46953802 + Silent SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 46953802 46953802 G C SNP SIAH1 NM_001006610 human genbank 54_36p -1 reviewed silent c.132 p.T44 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_Sina,superfamily_Traf_like" - no_errors SLC12A3 6559 hgsc.bcm.edu 36 16 55483539 55483539 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 55483539 55483539 C A SNP SLC12A3 NM_000339 human genbank 54_36p 1 reviewed missense c.2412 p.S804R 0 NULL "HMMPfam_AA_permease_N,HMMPfam_AA_permease" - no_errors SLC6A2 6530 hgsc.bcm.edu 36 16 54263578 54263578 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 54263578 54263578 G T SNP SLC6A2 NM_001043 human genbank 54_36p 1 validated nonsense c.634 p.E212* 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLC9A5 6553 hgsc.bcm.edu 36 16 65846483 65846483 + Silent SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 65846483 65846483 G A SNP SLC9A5 NM_004594 human genbank 54_36p 1 validated silent c.549 p.A183 0.11 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors SPG7 6687 hgsc.bcm.edu 36 16 88140595 88140596 + Frame_Shift_Ins INS - - G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 88140595 88140596 - G INS SPG7 NM_003119 human genbank 54_36p 1 reviewed frame_shift_ins c.1478_1479 p.K494fs 1.000:1.000 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA" "HMMPfam_FtsH_ext,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,HMMPfam_Peptidase_M41" - no_errors SRCAP 10847 hgsc.bcm.edu 36 16 30639697 30639697 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 30639697 30639697 G C SNP SRCAP NM_006662 human genbank 54_36p 1 validated missense c.3150 p.M1050I 1 NULL "HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384" - no_errors SRL 6345 hgsc.bcm.edu 36 16 4182769 4182769 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 4182769 4182769 C T SNP SRL NM_001098814 human genbank 54_36p -1 validated missense c.808 p.G270R 1 superfamily_SSF52540 superfamily_SSF52540 - no_errors SRRM2 23524 hgsc.bcm.edu 36 16 2753121 2753121 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 2753121 2753121 C T SNP SRRM2 NM_016333 human genbank 54_36p 1 validated missense c.2591 p.S864F 0.25 NULL HMMPfam_cwf21 - no_errors SRRM2 23524 hgsc.bcm.edu 36 16 2755497 2755497 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 2755497 2755497 A T SNP SRRM2 NM_016333 human genbank 54_36p 1 validated missense c.4967 p.E1656V 0.98 NULL HMMPfam_cwf21 - no_errors ST3GAL2 6483 hgsc.bcm.edu 36 16 68973235 68973235 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 68973235 68973235 C T SNP ST3GAL2 NM_006927 human genbank 54_36p -1 reviewed missense c.911 p.R304Q 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors ST3GAL2 6483 hgsc.bcm.edu 36 16 68974620 68974620 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 68974620 68974620 A G SNP ST3GAL2 NM_006927 human genbank 54_36p -1 reviewed missense c.733 p.S245P 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors TFAP4 7023 hgsc.bcm.edu 36 16 4252653 4252653 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 4252653 4252653 C T SNP TFAP4 NM_003223 human genbank 54_36p -1 validated missense c.140 p.R47Q 1 superfamily_HLH_basic "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors THOC6 79228 hgsc.bcm.edu 36 16 3016880 3016880 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 3016880 3016880 G C SNP THOC6 NM_024339 human genbank 54_36p 1 validated missense c.598 p.A200P 0.94 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors TMED6 146456 hgsc.bcm.edu 36 16 67934832 67934832 + Silent SNP A A G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 67934832 67934832 A G SNP TMED6 NM_144676 human genbank 54_36p -1 provisional silent c.702 p.D234 0.39 NULL HMMPfam_EMP24_GP25L - no_errors TNRC6A 27327 hgsc.bcm.edu 36 16 24709047 24709047 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 24709047 24709047 A G SNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.1583 p.N528S 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors TUFM 7284 hgsc.bcm.edu 36 16 28763585 28763585 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 28763585 28763585 T G SNP TUFM NM_003321 human genbank 54_36p -1 reviewed missense c.619 p.T207P 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain" - no_errors WFDC1 58189 hgsc.bcm.edu 36 16 82915529 82915529 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 82915529 82915529 G T SNP WFDC1 NM_021197 human genbank 54_36p 1 reviewed missense c.566 p.G189V 1 NULL "superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE" - no_errors XPO6 23214 hgsc.bcm.edu 36 16 28026440 28026440 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C G G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 28026440 28026440 C G SNP XPO6 NM_015171 human genbank 54_36p -1 provisional missense c.2401 p.G801R 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Xpo1" - no_errors XYLT1 64131 hgsc.bcm.edu 36 16 17135852 17135852 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 17135852 17135852 G A SNP XYLT1 NM_022166 human genbank 54_36p -1 validated missense c.2006 p.T669M 0.91 NULL HMMPfam_Branch - no_errors XYLT1 64131 hgsc.bcm.edu 36 16 17160197 17160197 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 16 17160197 17160197 C T SNP XYLT1 NM_022166 human genbank 54_36p -1 validated missense c.1360 p.D454N 1 HMMPfam_Branch HMMPfam_Branch - no_errors ZFHX3 463 hgsc.bcm.edu 36 16 71384705 71384705 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 71384705 71384705 A C SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated missense c.9377 p.L3126R 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZFHX3 100132068 hgsc.bcm.edu 36 16 71549101 71549101 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 71549101 71549101 C G SNP LOC100132068 XM_001719562 human genbank 54_36p 1 model missense c.46 p.H16D 1 NULL PatternScan_ASP_PROTEASE - no_errors ZFHX3 463 hgsc.bcm.edu 36 16 71549769 71549769 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 71549769 71549769 C A SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated nonsense c.1777 p.E593* 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF500 26048 hgsc.bcm.edu 36 16 4742731 4742731 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 16 4742731 4742731 C T SNP ZNF500 NM_021646 human genbank 54_36p -1 validated missense c.1090 p.D364N 0.28 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF821 55565 hgsc.bcm.edu 36 16 70452024 70452024 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C G G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 16 70452024 70452024 C G SNP ZNF821 NM_017530 human genbank 54_36p -1 provisional missense c.511 p.E171Q 0.94 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2" - no_errors ABCA5 23461 hgsc.bcm.edu 36 17 64767510 64767510 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 64767510 64767510 C A SNP ABCA5 NM_018672 human genbank 54_36p -1 reviewed missense c.3663 p.W1221C 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA9 10350 hgsc.bcm.edu 36 17 64524034 64524034 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 64524034 64524034 A C SNP ABCA9 NM_080283 human genbank 54_36p -1 reviewed missense c.2994 p.F998L 0.96 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_errors ABR 29 hgsc.bcm.edu 36 17 856123 856124 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 856123 856124 - G INS ABR NM_021962 human genbank 54_36p -1 reviewed frame_shift_ins c.2527_2526 p.I842fs 1.000:1.000 superfamily_GTPase activation domain GAP ############################################################################################################################################################################################################################################################### - no_errors ACADVL 37 hgsc.bcm.edu 36 17 7068074 7068074 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7068074 7068074 G A SNP ACADVL NM_000018 human genbank 54_36p 1 reviewed missense c.1396 p.D466N 1 "HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like" "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2" - no_errors ACADVL 37 hgsc.bcm.edu 36 17 7068415 7068416 + In_Frame_Ins INS - - TCC novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 7068415 7068416 - TCC INS ACADVL NM_000018 human genbank 54_36p 1 reviewed in_frame_ins c.1584_1585 p.528in_frame_insS 0.998:0.998 NULL "PatternScan_ACYL_COA_DH_1,PatternScan_ACYL_COA_DH_2,HMMPfam_Acyl-CoA_dh_1,HMMPfam_Acyl-CoA_dh_M,HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,superfamily_Acyl-CoA dehydrogenase NM domain-like" - no_errors ACE 1636 hgsc.bcm.edu 36 17 58914588 58914588 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 58914588 58914588 G A SNP ACE NM_000789 human genbank 54_36p 1 reviewed missense c.1523 p.R508Q 0.53 "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ACE 1636 hgsc.bcm.edu 36 17 58925479 58925479 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 58925479 58925479 G A SNP ACE NM_000789 human genbank 54_36p 1 reviewed missense c.3296 p.G1099D 1 "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ACOX1 51 hgsc.bcm.edu 36 17 71457037 71457037 + Splice_Site SNP C C G novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 71457037 71457037 C G SNP ACOX1 NM_004035 human genbank 54_36p -1 reviewed splice_site c.1585-1 e12-1 1 - - - no_errors ALOXE3 59344 hgsc.bcm.edu 36 17 7961899 7961899 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 7961899 7961899 G T SNP ALOXE3 NM_021628 human genbank 54_36p -1 validated missense c.135 p.F45L 0.77 "HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase" "HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2" - no_errors AOC2 314 hgsc.bcm.edu 36 17 38250869 38250871 + In_Frame_Del DEL CTT CTT - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 CTT CTT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 38250869 38250871 CTT - DEL AOC2 NM_009590 human genbank 54_36p 1 reviewed in_frame_del c.700_702 p.L234in_frame_del 1.000:1.000:1.000 "superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN3" "superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2" "(deletion:cds_exon[38250170,38251757])" no_errors AOC2 314 hgsc.bcm.edu 36 17 38251215 38251216 + Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 38251215 38251216 - G INS AOC2 NM_009590 human genbank 54_36p 1 reviewed frame_shift_ins c.1046_1047 p.E351fs 0.997:0.994 "HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain" "PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2,HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase N-terminal region" - no_errors ARHGEF15 22899 hgsc.bcm.edu 36 17 8159931 8159932 + In_Frame_Ins INS - - ATT novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 8159931 8159932 - ATT INS ARHGEF15 NM_173728 human genbank 54_36p 1 reviewed in_frame_ins c.1555_1556 p.ETYS519in_frame_insD* 1.000:1.000 "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF" "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729" - no_errors ARSG 22901 hgsc.bcm.edu 36 17 63892821 63892821 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 63892821 63892821 C G SNP ARSG NM_014960 human genbank 54_36p 1 validated missense c.1004 p.T335R 1 "superfamily_Alkaline_phosphatase_core,HMMPfam_Sulfatase" "superfamily_Alkaline_phosphatase_core,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2" - no_errors ATP2A3 489 hgsc.bcm.edu 36 17 3778023 3778023 + Splice_Site SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 3778023 3778023 C G SNP ATP2A3 NM_174953 human genbank 54_36p -1 reviewed splice_site c.3139+1 e22+1 0 - - - no_errors AXIN2 8313 hgsc.bcm.edu 36 17 60984833 60984833 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 60984833 60984833 T G SNP AXIN2 NM_004655 human genbank 54_36p -1 reviewed missense c.368 p.K123T 1 "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,HMMPfam_Axin_b-cat_bind,HMMPfam_DIX,HMMSmart_SM00021" - no_errors BPTF 2186 hgsc.bcm.edu 36 17 63338405 63338405 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 63338405 63338405 A - DEL BPTF NM_182641 human genbank 54_36p 1 reviewed frame_shift_del c.3943 p.I1315fs 0.36 NULL "HMMPfam_FYDLN_acid,HMMPfam_DDT,HMMSmart_DDT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_EGF_2,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" "(deletion:cds_exon[63337455,63339765])" no_errors C17orf49 124944 hgsc.bcm.edu 36 17 6860705 6860705 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 6860705 6860705 C A SNP C17orf49 NM_174893 human genbank 54_36p 1 validated missense c.386 p.P129H 0.96 NULL HMMSmart_SANT - no_errors C17orf53 78995 hgsc.bcm.edu 36 17 39581475 39581475 + Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 39581475 39581475 C - DEL C17orf53 NM_024032 human genbank 54_36p 1 predicted frame_shift_del c.778 p.T261fs 0 NULL NULL "(deletion:cds_exon[39580752,39581921])" no_errors C17orf71 55181 hgsc.bcm.edu 36 17 54645299 54645299 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 54645299 54645299 A C SNP C17orf71 NM_018149 human genbank 54_36p 1 validated missense c.2333 p.N778T 1 HMMPfam_DUF2146 HMMPfam_DUF2146 - no_errors C17orf75 64149 hgsc.bcm.edu 36 17 27683051 27683051 + Nonsense_Mutation SNP A A C novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 27683051 27683051 A C SNP C17orf75 NM_022344 human genbank 54_36p -1 validated nonsense c.1035 p.Y345* 1 NULL NULL - no_errors CACNA1G 8913 hgsc.bcm.edu 36 17 46033183 46033183 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 46033183 46033183 C G SNP CACNA1G NM_018896 human genbank 54_36p 1 validated missense c.3788 p.S1263C 0.99 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CALCOCO2 10241 hgsc.bcm.edu 36 17 44292736 44292736 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 44292736 44292736 C T SNP CALCOCO2 NM_005831 human genbank 54_36p 1 reviewed missense c.1070 p.P357L 0 HMMPfam_CALCOCO1 HMMPfam_CALCOCO1 - no_errors CAMKK1 84254 hgsc.bcm.edu 36 17 3734453 3734453 + Silent SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 3734453 3734453 G A SNP CAMKK1 NM_172207 human genbank 54_36p -1 reviewed silent c.378 p.N126 1 superfamily_Kinase_like "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CCDC57 284001 hgsc.bcm.edu 36 17 77745287 77745287 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T G G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 77745287 77745287 T G SNP CCDC57 NM_198082 human genbank 54_36p -1 validated missense c.636 p.K212N 0.96 NULL NULL - no_errors CCL15 6359 hgsc.bcm.edu 36 17 31349505 31349505 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 31349505 31349505 T C SNP CCL15 NM_032965 human genbank 54_36p -1 reviewed missense c.172 p.I58V 0 "superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC" "superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC" - no_errors CCL7 6354 hgsc.bcm.edu 36 17 29622313 29622313 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 29622313 29622313 T A SNP CCL7 NM_006273 human genbank 54_36p 1 reviewed missense c.112 p.F38I 0 "HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC" "HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC" - no_errors CCT6B 10693 hgsc.bcm.edu 36 17 30303122 30303122 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 30303122 30303122 C G SNP CCT6B NM_006584 human genbank 54_36p -1 reviewed missense c.574 p.E192Q 1 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like" - no_errors CDC27 996 hgsc.bcm.edu 36 17 42571159 42571159 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 42571159 42571159 A C SNP CDC27 NM_001256 human genbank 54_36p -1 reviewed missense c.1649 p.V550G 1 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors CDC27 996 hgsc.bcm.edu 36 17 42571161 42571161 + Missense_Mutation SNP A C C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 42571161 42571161 A C SNP CDC27 NM_001256 human genbank 54_36p -1 reviewed missense c.1647 p.D549E 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors CDC27 996 hgsc.bcm.edu 36 17 42602388 42602388 + Frame_Shift_Del DEL T T - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 42602388 42602388 T - DEL CDC27 NM_001256 human genbank 54_36p -1 reviewed frame_shift_del c.271 p.I91fs 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" "(deletion:cds_exon[42602282,42602407])" no_errors CHAD 1101 hgsc.bcm.edu 36 17 45900481 45900481 + Silent SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 45900481 45900481 C G SNP CHAD NM_001267 human genbank 54_36p -1 reviewed silent c.693 p.L231 0.99 "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - no_errors CHMP6 79643 hgsc.bcm.edu 36 17 76587526 76587526 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 76587526 76587526 C T SNP CHMP6 NM_024591 human genbank 54_36p 1 validated missense c.584 p.A195V 0.99 NULL HMMPfam_Snf7 - no_errors CHRNB1 1140 hgsc.bcm.edu 36 17 7299395 7299395 + Silent SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7299395 7299395 G A SNP CHRNB1 NM_000747 human genbank 54_36p 1 reviewed silent c.1113 p.P371 0.27 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors COASY 80347 hgsc.bcm.edu 36 17 37969699 37969699 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 37969699 37969699 A G SNP COASY NM_001042529 human genbank 54_36p 1 validated missense c.895 p.N299D 1 "superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2" "superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2,HMMPfam_CoaE,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors COX10 1352 hgsc.bcm.edu 36 17 13913676 13913677 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 CA CA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 13913676 13913677 CA - DEL COX10 NM_001303 human genbank 54_36p 1 reviewed frame_shift_del c.29_30 p.R11fs 0.999:1.000 NULL "HMMPfam_UbiA,PatternScan_UBIA" "(deletion:cds_exon[13913648,13913690])" no_errors CYTH1 9267 hgsc.bcm.edu 36 17 74183809 74183809 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 74183809 74183809 C T SNP CYTH1 NM_004762 human genbank 54_36p -1 reviewed missense c.1156 p.A386T 1 NULL "superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors SPECC1 92521 hgsc.bcm.edu 36 17 20048385 20048385 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 20048385 20048385 C G SNP CYTSB NM_001033553 human genbank 54_36p 1 validated missense c.431 p.T144R 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors SPECC1 92521 hgsc.bcm.edu 36 17 20091152 20091152 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 20091152 20091152 T - DEL CYTSB NM_001033553 human genbank 54_36p 1 validated frame_shift_del c.2526 p.H842fs 0.78 NULL "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" "(deletion:cds_exon[20091124,20091224])" no_errors DBF4B 80174 hgsc.bcm.edu 36 17 40174303 40174303 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 40174303 40174303 C G SNP DBF4B NM_145663 human genbank 54_36p 1 validated missense c.787 p.P263A 0.57 NULL "HMMPfam_zf-DBF,HMMSmart_SM00586" - no_errors DHX8 1659 hgsc.bcm.edu 36 17 38926649 38926649 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 38926649 38926649 G T SNP DHX8 NM_004941 human genbank 54_36p 1 reviewed nonsense c.1081 p.E361* 1 NULL "superfamily_Nucleic_acid_OB,HMMPfam_S1,HMMSmart_S1,HMMSmart_DEXDc,superfamily_SSF52540,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DNAH2 146754 hgsc.bcm.edu 36 17 7577141 7577141 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7577141 7577141 G C SNP DNAH2 NM_020877 human genbank 54_36p 1 validated missense c.411 p.Q137H 1 NULL "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH2 146754 hgsc.bcm.edu 36 17 7577230 7577230 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 7577230 7577230 A T SNP DNAH2 NM_020877 human genbank 54_36p 1 validated missense c.500 p.Y167F 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH9 1770 hgsc.bcm.edu 36 17 11513178 11513178 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 11513178 11513178 C T SNP DNAH9 NM_001372 human genbank 54_36p 1 reviewed missense c.2804 p.P935L 0.95 NULL "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2" - no_errors DNAI2 64446 hgsc.bcm.edu 36 17 69789693 69789693 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 69789693 69789693 G C SNP DNAI2 NM_023036 human genbank 54_36p 1 validated missense c.142 p.D48H 0.99 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DOC2BL 653051 hgsc.bcm.edu 36 17 11294 11295 + In_Frame_Ins INS - - CAGTCC novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 11294 11295 - CAGTCC INS LOC653051 XM_925795 human genbank 54_36p -1 model in_frame_ins c.677_676 p.226in_frame_insGT 1.000:1.000 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors DRG2 1819 hgsc.bcm.edu 36 17 17944642 17944645 + Frame_Shift_Del DEL CAGT CAGT - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 CAGT CAGT - - CAGT CAGT Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 17944642 17944645 CAGT - DEL DRG2 NM_001388 human genbank 54_36p 1 reviewed frame_shift_del c.575_578 p.V193fs 1.000:0.971:1.000:1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1,PatternScan_GTP1_OBG,HMMPfam_TGS" "(deletion:cds_exon[17944608,17944698])" no_errors EME1 146956 hgsc.bcm.edu 36 17 45808532 45808532 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 45808532 45808532 G A SNP EME1 NM_152463 human genbank 54_36p 1 provisional silent c.882 p.R294 1 HMMPfam_ERCC4 HMMPfam_ERCC4 - no_errors ENO3 2027 hgsc.bcm.edu 36 17 4800876 4800876 + Silent SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 4800876 4800876 G A SNP ENO3 NM_001976 human genbank 54_36p 1 reviewed silent c.1203 p.S401 0.31 "superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C" "HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like,superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C,PatternScan_ENOLASE" - no_errors ERBB2 2064 hgsc.bcm.edu 36 17 35121734 35121734 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 35121734 35121734 C T SNP ERBB2 NM_004448 human genbank 54_36p 1 reviewed missense c.929 p.S310F 1 "superfamily_Growth factor receptor domain,HMMPfam_Furin-like" ############################################################################################################################################################################################################################################################### - no_errors ERBB2 2064 hgsc.bcm.edu 36 17 35134658 35134658 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 35134658 35134658 G T SNP ERBB2 NM_004448 human genbank 54_36p 1 reviewed missense c.2461 p.D821Y 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors ERBB2 2064 hgsc.bcm.edu 36 17 35135143 35135143 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 35135143 35135143 G A SNP ERBB2 NM_004448 human genbank 54_36p 1 reviewed missense c.2687 p.R896H 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EVI2B 2124 hgsc.bcm.edu 36 17 26656494 26656494 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 26656494 26656494 G A SNP EVI2B NM_006495 human genbank 54_36p -1 validated missense c.260 p.T87I 0 NULL NULL - no_errors EVPL 2125 hgsc.bcm.edu 36 17 71515272 71515273 + Frame_Shift_Ins INS - - CC novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 71515272 71515273 - CC INS EVPL NM_001988 human genbank 54_36p -1 validated frame_shift_ins c.5609_5608 p.D1870fs 1.000:1.000 "superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" "superfamily_Spectrin repeat,HMMSmart_SM00150,HMMSmart_SM00250,superfamily_Prefoldin,superfamily_Plakin repeat,HMMPfam_Plectin" - no_errors EZH1 2145 hgsc.bcm.edu 36 17 38108439 38108439 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 38108439 38108439 T A SNP EZH1 NM_001991 human genbank 54_36p -1 validated missense c.2165 p.E722V 1 "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" "HMMSmart_SM00717,PatternScan_AP_NUCLEASE_F2_1,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" - no_errors FBF1 85302 hgsc.bcm.edu 36 17 71434554 71434554 + Splice_Site SNP C C G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 71434554 71434554 C G SNP FBF1 NM_001080542 human genbank 54_36p -1 provisional splice_site c.434-1 e8-1 0.62 - - - no_errors FBXL20 84961 hgsc.bcm.edu 36 17 34678605 34678605 + Splice_Site SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 34678605 34678605 C T SNP FBXL20 NM_032875 human genbank 54_36p -1 provisional splice_site c.933+1 e12+1 1 - - - no_errors FBXO47 494188 hgsc.bcm.edu 36 17 34354744 34354744 + Missense_Mutation SNP T T A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 34354744 34354744 T A SNP FBXO47 NM_001008777 human genbank 54_36p -1 validated missense c.788 p.Q263L 0.88 NULL HMMPfam_F-box - no_errors FTSJ3 117246 hgsc.bcm.edu 36 17 59257684 59257684 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 59257684 59257684 C A SNP FTSJ3 NM_017647 human genbank 54_36p -1 reviewed missense c.148 p.D50Y 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_FtsJ" "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_FtsJ,HMMPfam_Spb1_C" - no_errors GEMIN4 50628 hgsc.bcm.edu 36 17 596827 596827 + Silent SNP G G A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 596827 596827 G A SNP GEMIN4 NM_015721 human genbank 54_36p -1 reviewed silent c.1206 p.I402 0.2 NULL NULL - no_errors GGA3 23163 hgsc.bcm.edu 36 17 70747108 70747108 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 70747108 70747108 T A SNP GGA3 NM_138619 human genbank 54_36p -1 reviewed nonsense c.1723 p.K575* 0 NULL "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_GAT-like domain,HMMPfam_GAT,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809" - no_errors GGA3 23163 hgsc.bcm.edu 36 17 70748031 70748031 + Nonsense_Mutation SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 70748031 70748031 C T SNP GGA3 NM_138619 human genbank 54_36p -1 reviewed nonsense c.1250 p.W417* 1 NULL "HMMPfam_VHS,HMMPfam_GAT,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_ENTH/VHS domain,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00288,superfamily_GAT-like domain" - no_errors GPATCH8 23131 hgsc.bcm.edu 36 17 39831700 39831700 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 39831700 39831700 T C SNP GPATCH8 NM_001002909 human genbank 54_36p -1 validated missense c.3271 p.K1091E 1 NULL "HMMSmart_SM00443,HMMPfam_G-patch,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GPATCH8 23131 hgsc.bcm.edu 36 17 39834010 39834010 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 39834010 39834010 C T SNP GPATCH8 NM_001002909 human genbank 54_36p -1 validated missense c.961 p.D321N 1 NULL "HMMPfam_G-patch,HMMSmart_SM00443,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GRB2 2885 hgsc.bcm.edu 36 17 70828143 70828143 + Silent SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G A A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 70828143 70828143 G A SNP GRB2 NM_002086 human genbank 54_36p -1 reviewed silent c.555 p.V185 1 "superfamily_SH2 domain,HMMPfam_SH3_1,HMMSmart_SM00326" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors GRB2 2885 hgsc.bcm.edu 36 17 70901278 70901278 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 70901278 70901278 G T SNP GRB2 NM_002086 human genbank 54_36p -1 reviewed missense c.27 p.F9L 1 "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" "HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain" - no_errors GRIN2C 2905 hgsc.bcm.edu 36 17 70357608 70357608 + Silent SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 70357608 70357608 G A SNP GRIN2C NM_000835 human genbank 54_36p -1 reviewed silent c.1551 p.S517 0.05 "superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GSDMB 55876 hgsc.bcm.edu 36 17 35316761 35316761 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 35316761 35316761 C A SNP GSDMB NM_001042471 human genbank 54_36p -1 validated missense c.667 p.D223Y 0 HMMPfam_Gasdermin HMMPfam_Gasdermin - no_errors GSG2 83903 hgsc.bcm.edu 36 17 3574813 3574814 + Frame_Shift_Ins INS - - TG novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 3574813 3574814 - TG INS GSG2 NM_031965 human genbank 54_36p 1 validated frame_shift_ins c.835_836 p.N279fs 0.000:0.000 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" - no_errors GSG2 83903 hgsc.bcm.edu 36 17 3575170 3575171 + Frame_Shift_Ins INS - - AA novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 3575170 3575171 - AA INS GSG2 NM_031965 human genbank 54_36p 1 validated frame_shift_ins c.1192_1193 p.D398fs 0.000:0.000 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" - no_errors H3F3B 3021 hgsc.bcm.edu 36 17 71286798 71286799 + Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 71286798 71286799 - G INS H3F3B NM_005324 human genbank 54_36p -1 reviewed frame_shift_ins c.53_52 p.R18fs 1.000:0.999 "superfamily_Histone-fold,PatternScan_HISTONE_H3_1" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HLF 3131 hgsc.bcm.edu 36 17 50753035 50753035 + Silent SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 50753035 50753035 C T SNP HLF NM_002126 human genbank 54_36p 1 reviewed silent c.684 p.Y228 1 "HMMSmart_SM00338,HMMPfam_bZIP_2" "HMMSmart_SM00338,HMMPfam_bZIP_2" - no_errors HNF1B 6928 hgsc.bcm.edu 36 17 33165699 33165699 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 33165699 33165699 C A SNP HNF1B NM_000458 human genbank 54_36p -1 validated nonsense c.1045 p.G349* 1 HMMPfam_HNF-1B_C "superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C" - no_errors HNF1B 6928 hgsc.bcm.edu 36 17 33167738 33167738 + Missense_Mutation SNP A G G novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 A A G G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 33167738 33167738 A G SNP HNF1B NM_000458 human genbank 54_36p -1 validated missense c.734 p.I245T 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_HNF-1B_C,HMMPfam_HNF-1_N,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1,superfamily_Dimerization cofactor of HNF-1 alpha" - no_errors HSF5 124535 hgsc.bcm.edu 36 17 53895186 53895186 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 A A T T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 53895186 53895186 A T SNP HSF5 NM_001080439 human genbank 54_36p -1 provisional missense c.1498 p.S500T 1 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00415,HMMPfam_HSF_DNA-bind" - no_errors ITGA2B 3674 hgsc.bcm.edu 36 17 39808546 39808546 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 39808546 39808546 C A SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed missense c.2666 p.R889L 0.89 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ITGA2B 3674 hgsc.bcm.edu 36 17 39808977 39808977 + Splice_Site SNP A A T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 39808977 39808977 A T SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed splice_site c.2448+2 e24+2 0.95 - - - no_errors ITGA2B 3674 hgsc.bcm.edu 36 17 39810591 39810591 + Splice_Site SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 39810591 39810591 C T SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed splice_site c.2187+1 e21+1 1 - - - no_errors ITGA3 3675 hgsc.bcm.edu 36 17 45503245 45503245 + Missense_Mutation SNP T C C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T C C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 45503245 45503245 T C SNP ITGA3 NM_005501 human genbank 54_36p 1 reviewed missense c.703 p.S235P 0.66 superfamily_Integrin alpha N-terminal domain "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" - no_errors JUP 3728 hgsc.bcm.edu 36 17 37173014 37173014 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 37173014 37173014 A T SNP JUP NM_002230 human genbank 54_36p -1 reviewed missense c.1244 p.L415H 1 "superfamily_ARM-type_fold,HMMPfam_Arm,HMMSmart_ARM" "superfamily_ARM-type_fold,HMMSmart_ARM,HMMPfam_HEAT,HMMPfam_Arm" - no_errors KCNJ12 3768 hgsc.bcm.edu 36 17 21260275 21260275 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 21260275 21260275 C T SNP KCNJ12 NM_021012 human genbank 54_36p 1 validated missense c.1028 p.S343L 1 "HMMPfam_IRK,superfamily_Ig_E-set" "HMMPfam_IRK_N,superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set" - no_errors KCNJ12 3768 hgsc.bcm.edu 36 17 21260275 21260275 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 21260275 21260275 C T SNP KCNJ12 NM_021012 human genbank 54_36p 1 validated missense c.1028 p.S343L 1 "HMMPfam_IRK,superfamily_Ig_E-set" "HMMPfam_IRK,HMMPfam_IRK_N,superfamily_Ig_E-set,superfamily_SSF81324" - no_errors KIAA0195 9772 hgsc.bcm.edu 36 17 71002621 71002621 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 71002621 71002621 C G SNP KIAA0195 NM_014738 human genbank 54_36p 1 validated missense c.2639 p.S880C 1 NULL superfamily_Calcium ATPase transmembrane domain M - no_errors KIF2B 84643 hgsc.bcm.edu 36 17 49255721 49255721 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 49255721 49255721 C T SNP KIF2B NM_032559 human genbank 54_36p 1 validated missense c.328 p.R110C 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF2B 84643 hgsc.bcm.edu 36 17 49257167 49257167 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 49257167 49257167 C T SNP KIF2B NM_032559 human genbank 54_36p 1 validated nonsense c.1774 p.Q592* 0.03 NULL "HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF2B 84643 hgsc.bcm.edu 36 17 49257303 49257303 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 49257303 49257303 G T SNP KIF2B NM_032559 human genbank 54_36p 1 validated missense c.1910 p.C637F 0.97 NULL "HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF2B 84643 hgsc.bcm.edu 36 17 49257364 49257364 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 49257364 49257364 G T SNP KIF2B NM_032559 human genbank 54_36p 1 validated missense c.1971 p.K657N 0.17 NULL "HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KPNB1 3837 hgsc.bcm.edu 36 17 43089426 43089426 + Splice_Site SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 43089426 43089426 G C SNP KPNB1 NM_002265 human genbank 54_36p 1 reviewed splice_site c.483+1 e4+1 1 - - - no_errors KRT27 342574 hgsc.bcm.edu 36 17 36189533 36189534 + Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 36189533 36189534 - A INS KRT27 NM_181537 human genbank 54_36p -1 validated frame_shift_ins c.791_790 p.Y264fs 1.000:1.000 HMMPfam_Filament HMMPfam_Filament - no_errors KRT38 8687 hgsc.bcm.edu 36 17 36849119 36849119 + Silent SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 36849119 36849119 G C SNP KRT38 NM_006771 human genbank 54_36p -1 reviewed silent c.594 p.S198 0.84 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT9 3857 hgsc.bcm.edu 36 17 36979738 36979738 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 36979738 36979738 G A SNP KRT9 NM_000226 human genbank 54_36p -1 reviewed missense c.781 p.R261W 0.97 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors MAP2K4 6416 hgsc.bcm.edu 36 17 11925507 11925507 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 11925507 11925507 C T SNP MAP2K4 NM_003010 human genbank 54_36p 1 reviewed nonsense c.328 p.R110* 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MAP3K3 4215 hgsc.bcm.edu 36 17 59122227 59122227 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 59122227 59122227 C A SNP MAP3K3 NM_203351 human genbank 54_36p 1 reviewed missense c.1339 p.L447I 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" - no_errors MED24 9862 hgsc.bcm.edu 36 17 35436433 35436433 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 35436433 35436433 G A SNP MED24 NM_014815 human genbank 54_36p -1 reviewed missense c.1802 p.S601F 1 NULL NULL - no_errors METT10D 79066 hgsc.bcm.edu 36 17 2323678 2323678 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 2323678 2323678 A T SNP METT10D NM_024086 human genbank 54_36p -1 validated missense c.359 p.L120H 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_10" "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_10" - no_errors MFSD11 79157 hgsc.bcm.edu 36 17 72275062 72275062 + Splice_Site SNP G G C novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 72275062 72275062 G C SNP MFSD11 NM_024311 human genbank 54_36p 1 provisional splice_site c.683-1 e9-1 1 - - - no_errors MLX 6945 hgsc.bcm.edu 36 17 37974394 37974394 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 37974394 37974394 T - DEL MLX NM_170607 human genbank 54_36p 1 reviewed frame_shift_del c.345 p.S115fs 0.99 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,superfamily_Bet v1-like" "(deletion:cds_exon[37974381,37974487])" no_errors MMP28 79148 hgsc.bcm.edu 36 17 31119441 31119442 + Frame_Shift_Ins INS - - GC novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 31119441 31119442 - GC INS MMP28 ENST00000338839 human ensembl 54_36p -1 known frame_shift_ins c.918_917 p.D306fs 0.715:0.978 NULL "superfamily_PGBD-like,HMMPfam_PG_binding_1,superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" - no_errors MYH1 4619 hgsc.bcm.edu 36 17 10339305 10339305 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 10339305 10339305 G T SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.5224 p.Q1742K 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH1 4619 hgsc.bcm.edu 36 17 10340195 10340195 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 10340195 10340195 C A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.4966 p.D1656Y 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 hgsc.bcm.edu 36 17 10352551 10352551 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 10352551 10352551 T A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.1751 p.H584L 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH2 4620 hgsc.bcm.edu 36 17 10375771 10375771 + Silent SNP G G A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 10375771 10375771 G A SNP MYH2 NM_001100112 human genbank 54_36p -1 validated silent c.2601 p.D867 0.05 NULL "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH2 4620 hgsc.bcm.edu 36 17 10381372 10381372 + Missense_Mutation SNP G T T novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G T T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 10381372 10381372 G T SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.1800 p.N600K 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH3 4621 hgsc.bcm.edu 36 17 10476613 10476613 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 10476613 10476613 C A SNP MYH3 NM_002470 human genbank 54_36p -1 reviewed missense c.4861 p.G1621W 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH3 4621 hgsc.bcm.edu 36 17 10476630 10476630 + Missense_Mutation SNP A A C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 10476630 10476630 A C SNP MYH3 NM_002470 human genbank 54_36p -1 reviewed missense c.4844 p.L1615R 0.86 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH4 4622 hgsc.bcm.edu 36 17 10291142 10291142 + Silent SNP T T A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 10291142 10291142 T A SNP MYH4 NM_017533 human genbank 54_36p -1 validated silent c.5082 p.A1694 0.98 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH4 4622 hgsc.bcm.edu 36 17 10298821 10298821 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G A A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 10298821 10298821 G A SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.2467 p.R823C 1 "HMMSmart_IQ,superfamily_SSF52540" "HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYO18A 399687 hgsc.bcm.edu 36 17 24443508 24443508 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 24443508 24443508 G C SNP MYO18A NM_078471 human genbank 54_36p -1 validated missense c.5166 p.D1722E 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin" - no_errors NAGLU 4669 hgsc.bcm.edu 36 17 37944271 37944271 + Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 37944271 37944271 G - DEL NAGLU NM_000263 human genbank 54_36p 1 reviewed frame_shift_del c.736 p.A246fs 0.82 HMMPfam_NAGLU HMMPfam_NAGLU "(deletion:cds_exon[37944214,37944299])" no_errors NARF 26502 hgsc.bcm.edu 36 17 78039282 78039283 + Frame_Shift_Ins INS - - GA novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 78039282 78039283 - GA INS NARF NM_012336 human genbank 54_36p 1 reviewed frame_shift_ins c.1331_1332 p.S444fs 0.009:0.000 "superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_SSU" "superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C,HMMPfam_Fe_hyd_SSU" - no_errors NOS2 4843 hgsc.bcm.edu 36 17 23125533 23125533 + Nonsense_Mutation SNP G G C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 23125533 23125533 G C SNP NOS2 NM_000625 human genbank 54_36p -1 reviewed nonsense c.1353 p.Y451* 1 "superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_NO_synthase" ############################################################################################################################################################################################################################################################### - no_errors NUP85 79902 hgsc.bcm.edu 36 17 70743280 70743280 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 70743280 70743280 G C SNP NUP85 NM_024844 human genbank 54_36p 1 reviewed missense c.1882 p.E628Q 1 NULL HMMPfam_Nucleopor_Nup85 - no_errors PFAS 5198 hgsc.bcm.edu 36 17 8107262 8107262 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 8107262 8107262 G C SNP PFAS NM_012393 human genbank 54_36p 1 reviewed missense c.1521 p.K507N 0 "superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C" "superfamily_PurS-like,superfamily_FGAM synthase PurL linker domain,superfamily_PurM N-terminal domain-like,HMMPfam_AIRS,superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C,superfamily_Class I glutamine amidotransferase-like" - no_errors PFAS 5198 hgsc.bcm.edu 36 17 8111088 8111090 + In_Frame_Del DEL CGG CGG - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 CGG CGG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 8111088 8111090 CGG - DEL PFAS NM_012393 human genbank 54_36p 1 reviewed in_frame_del c.2985_2987 p.NG995in_frame_delK 0.295:0.297:0.290 superfamily_PurM C-terminal domain-like "HMMPfam_AIRS,HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like,superfamily_PurM N-terminal domain-like,superfamily_FGAM synthase PurL linker domain,superfamily_Class I glutamine amidotransferase-like,superfamily_PurS-like" "(deletion:cds_exon[8111071,8111278])" no_errors PGAP3 93210 hgsc.bcm.edu 36 17 35097631 35097631 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 35097631 35097631 T C SNP PERLD1 NM_033419 human genbank 54_36p -1 validated missense c.163 p.I55V 1 HMMPfam_Per1 HMMPfam_Per1 - no_errors PHF12 57649 hgsc.bcm.edu 36 17 24268578 24268578 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 24268578 24268578 T C SNP PHF12 NM_001033561 human genbank 54_36p -1 validated missense c.985 p.M329V 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SMAD/FHA domain" - no_errors PITPNM3 83394 hgsc.bcm.edu 36 17 6322056 6322056 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 6322056 6322056 G A SNP PITPNM3 NM_031220 human genbank 54_36p -1 validated missense c.863 p.A288V 1 NULL "HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors PROCA1 147011 hgsc.bcm.edu 36 17 24055007 24055007 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 24055007 24055007 A C SNP PROCA1 NM_152465 human genbank 54_36p -1 provisional missense c.707 p.L236W 0.57 NULL "superfamily_PhospholipaseA2,PatternScan_PA2_HIS" - no_errors PRPSAP1 5635 hgsc.bcm.edu 36 17 71820648 71820648 + Silent SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 71820648 71820648 C T SNP PRPSAP1 NM_002766 human genbank 54_36p -1 validated silent c.810 p.E270 1 "superfamily_PRTase-like,HMMPfam_Pribosyltran" "superfamily_PRTase-like,HMMPfam_Pribosyltran" - no_errors PSMB6 5694 hgsc.bcm.edu 36 17 4648583 4648583 + Silent SNP C C T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C T T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 4648583 4648583 C T SNP PSMB6 NM_002798 human genbank 54_36p 1 reviewed silent c.628 p.L210 1 "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome" "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors RAB37 326624 hgsc.bcm.edu 36 17 70248526 70248526 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 70248526 70248526 G A SNP RAB37 NM_001006638 human genbank 54_36p 1 validated missense c.118 p.V40I 1 "superfamily_SSF52540,HMMPfam_Ras,HMMSmart_RAB" "superfamily_SSF52540,HMMPfam_Ras,HMMSmart_RAB" - no_errors RABEP1 9135 hgsc.bcm.edu 36 17 5227143 5227143 + Silent SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 5227143 5227143 G A SNP RABEP1 NM_004703 human genbank 54_36p 1 validated silent c.2490 p.V830 1 NULL "HMMPfam_Rabaptin,HMMPfam_Rab5-bind" - no_errors RGS9 8787 hgsc.bcm.edu 36 17 60651718 60651718 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 60651718 60651718 G A SNP RGS9 NM_003835 human genbank 54_36p 1 validated missense c.1544 p.R515Q 1 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_Transducin (heterotrimeric G protein) gamma chain,HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors RHBDF2 79651 hgsc.bcm.edu 36 17 71980731 71980731 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 71980731 71980731 C - DEL RHBDF2 NM_024599 human genbank 54_36p -1 validated frame_shift_del c.1948 p.V650fs 0.99 HMMPfam_Rhomboid HMMPfam_Rhomboid "(deletion:cds_exon[71980682,71980782])" no_errors RHOT1 55288 hgsc.bcm.edu 36 17 27550123 27550123 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 27550123 27550123 C T SNP RHOT1 NM_001033568 human genbank 54_36p 1 validated missense c.914 p.A305V 1 "superfamily_SSF47473,HMMPfam_EF_assoc_2" "superfamily_SSF52540,HMMPfam_Miro,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_EF_assoc_2,HMMPfam_EF_assoc_1" - no_errors RILP 83547 hgsc.bcm.edu 36 17 1498504 1498504 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 1498504 1498504 C G SNP RILP NM_031430 human genbank 54_36p -1 validated missense c.711 p.E237D 0.06 NULL "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_Jnk-SapK_ap_N" - no_errors RNF157 114804 hgsc.bcm.edu 36 17 71663972 71663972 + Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 71663972 71663972 T - DEL RNF157 NM_052916 human genbank 54_36p -1 validated frame_shift_del c.1439 p.E480fs 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "(deletion:cds_exon[71663886,71663997])" no_errors RNF213 57674 hgsc.bcm.edu 36 17 75934929 75934929 + Silent SNP G G A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 75934929 75934929 G A SNP RNF213 NM_020914 human genbank 54_36p 1 validated silent c.2418 p.L806 0.02 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RNF213 57674 hgsc.bcm.edu 36 17 75977623 75977623 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 75977623 75977623 G A SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.9275 p.S3092N 1 NULL "HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box" - no_errors RPA1 6117 hgsc.bcm.edu 36 17 1733866 1733866 + Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 1733866 1733866 G - DEL RPA1 NM_002945 human genbank 54_36p 1 validated frame_shift_del c.1252 p.E418fs 1 superfamily_Nucleic acid-binding proteins "superfamily_Nucleic acid-binding proteins,HMMPfam_Rep-A_N,HMMPfam_tRNA_anti,HMMPfam_Rep_fac-A_C" "(deletion:cds_exon[1733856,1733988])" no_errors RPA1 6117 hgsc.bcm.edu 36 17 1747193 1747194 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 1747193 1747194 - G INS RPA1 NM_002945 human genbank 54_36p 1 validated frame_shift_ins c.1825_1826 p.S609fs 0.965:0.969 superfamily_Nucleic acid-binding proteins "HMMPfam_tRNA_anti,HMMPfam_Rep-A_N,HMMPfam_Rep_fac-A_C,superfamily_Nucleic acid-binding proteins" - no_errors RPTOR 57521 hgsc.bcm.edu 36 17 76342410 76342411 + Frame_Shift_Ins INS - - G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 76342410 76342411 - G INS KIAA1303 NM_020761 human genbank 54_36p 1 validated frame_shift_ins c.660_661 p.A220fs 0.637:0.991 NULL "superfamily_ARM repeat,HMMPfam_HEAT,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors RUNDC3A 10900 hgsc.bcm.edu 36 17 39747660 39747660 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 39747660 39747660 C T SNP RUNDC3A NM_006695 human genbank 54_36p 1 validated missense c.490 p.R164W 0.98 "HMMPfam_RUN,HMMSmart_RUN" "HMMPfam_RUN,HMMSmart_RUN" - no_errors SCN4A 6329 hgsc.bcm.edu 36 17 59376564 59376564 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 59376564 59376564 A T SNP SCN4A NM_000334 human genbank 54_36p -1 reviewed missense c.3608 p.V1203D 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ" - no_errors SCN4A 6329 hgsc.bcm.edu 36 17 59388340 59388340 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 59388340 59388340 C T SNP SCN4A NM_000334 human genbank 54_36p -1 reviewed missense c.2290 p.E764K 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SEC14L1 6397 hgsc.bcm.edu 36 17 72702455 72702455 + Silent SNP A A G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 72702455 72702455 A G SNP SEC14L1 NM_001039573 human genbank 54_36p 1 reviewed silent c.576 p.T192 0 NULL "HMMPfam_PRELI,superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,HMMPfam_CRAL_TRIO,superfamily_Supernatant protein factor (SPF) C-terminal domain" - no_errors SGSM2 9905 hgsc.bcm.edu 36 17 2213626 2213627 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 CA CA . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 2213626 2213627 CA - DEL SGSM2 NM_014853 human genbank 54_36p 1 validated frame_shift_del c.790_791 p.H264fs 1.000:1.000 NULL "HMMPfam_RUN,HMMSmart_RUN,superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC" "(deletion:cds_exon[2213509,2213643])" no_errors SLC16A13 201232 hgsc.bcm.edu 36 17 6882348 6882348 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 6882348 6882348 A T SNP SLC16A13 NM_201566 human genbank 54_36p 1 validated missense c.497 p.Y166F 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC4A1 6521 hgsc.bcm.edu 36 17 39686139 39686139 + Silent SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G A A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 39686139 39686139 G A SNP SLC4A1 NM_000342 human genbank 54_36p -1 reviewed silent c.2184 p.T728 0.39 HMMPfam_HCO3_cotransp "superfamily_PTrfase/Anion_transptr,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2" - no_errors SLC5A10 125206 hgsc.bcm.edu 36 17 18813098 18813099 + In_Frame_Ins INS - - TAC novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 18813098 18813099 - TAC INS SLC5A10 NM_152351 human genbank 54_36p 1 validated in_frame_ins c.462_463 p.155in_frame_insY 1.000:1.000 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_2" - no_errors SLC5A10 125206 hgsc.bcm.edu 36 17 18857504 18857504 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 18857504 18857504 G A SNP SLC5A10 NM_152351 human genbank 54_36p 1 validated missense c.1087 p.G363S 1 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_2" - no_errors SLFN11 91607 hgsc.bcm.edu 36 17 30704004 30704004 + Silent SNP T T A novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 30704004 30704004 T A SNP SLFN11 NM_001104587 human genbank 54_36p -1 validated silent c.2190 p.I730 0.2 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SLFN13 146857 hgsc.bcm.edu 36 17 30793372 30793373 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 30793372 30793373 - T INS SLFN13 NM_144682 human genbank 54_36p -1 validated frame_shift_ins c.1245_1244 p.L416fs 0.519:0.537 NULL "HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SLFN13 146857 hgsc.bcm.edu 36 17 30793377 30793377 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 30793377 30793377 T A SNP SLFN13 NM_144682 human genbank 54_36p -1 validated nonsense c.1240 p.K414* 0.49 NULL "HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SLFN5 162394 hgsc.bcm.edu 36 17 30615640 30615640 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 30615640 30615640 A T SNP SLFN5 NM_144975 human genbank 54_36p 1 validated missense c.1464 p.L488F 0.04 NULL "HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SMG6 23293 hgsc.bcm.edu 36 17 2149950 2149950 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 2149950 2149950 G A SNP SMG6 NM_017575 human genbank 54_36p -1 validated nonsense c.847 p.Q283* 0.99 NULL "HMMPfam_EST1,superfamily_PIN domain-like,HMMSmart_SM00670" - no_errors SMG6 23293 hgsc.bcm.edu 36 17 2149950 2149950 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 2149950 2149950 G A SNP SMG6 NM_017575 human genbank 54_36p -1 validated nonsense c.847 p.Q283* 0.99 NULL "HMMSmart_SM00670,HMMPfam_EST1,superfamily_PIN domain-like" - no_errors SMYD4 114826 hgsc.bcm.edu 36 17 1631355 1631355 + Missense_Mutation SNP G G T rs58337165 Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 1631355 1631355 G T SNP SMYD4 NM_052928 human genbank 54_36p -1 validated missense c.2390 p.P797H 0 NULL "superfamily_TPR-like,superfamily_SET domain,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" - no_errors SPAG5 10615 hgsc.bcm.edu 36 17 23942909 23942909 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 23942909 23942909 G T SNP SPAG5 NM_006461 human genbank 54_36p -1 reviewed missense c.1371 p.S457R 0 NULL NULL - no_errors SPDYE4 388333 hgsc.bcm.edu 36 17 8602399 8602407 + In_Frame_Del DEL CGGGGGGCG CGGGGGGCG - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 CGGGGGGCG CGGGGGGCG CGGGGGGCG - CGGGGGGCG CGGGGGGCG Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 8602399 8602407 CGGGGGGCG - DEL SPDYE4 ENST00000328794 human ensembl 54_36p -1 known in_frame_del c.45_37 p.RPP13in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL "(deletion:cds_exon[8602317,8602443])" no_start_codon SPOP 8405 hgsc.bcm.edu 36 17 45039703 45039703 + Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 45039703 45039703 C A SNP SPOP NM_001007226 human genbank 54_36p -1 reviewed nonsense c.745 p.E249* 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors SUPT6H 6830 hgsc.bcm.edu 36 17 24036018 24036018 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 24036018 24036018 A G SNP SUPT6H NM_003170 human genbank 54_36p 1 validated missense c.2399 p.N800S 1 HMMSmart_SM00732 "HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252" - no_errors TANC2 26115 hgsc.bcm.edu 36 17 58669167 58669167 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 58669167 58669167 G A SNP TANC2 NM_025185 human genbank 54_36p 1 validated missense c.808 p.A270T 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors TBCD 6904 hgsc.bcm.edu 36 17 78457104 78457104 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 78457104 78457104 T C SNP TBCD NM_005993 human genbank 54_36p 1 reviewed missense c.1808 p.F603S 0.13 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors TBCD 6904 hgsc.bcm.edu 36 17 78483848 78483848 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 78483848 78483848 C G SNP TBCD NM_005993 human genbank 54_36p 1 reviewed missense c.3139 p.L1047V 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors TBX4 9496 hgsc.bcm.edu 36 17 56915159 56915159 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 56915159 56915159 C T SNP TBX4 NM_018488 human genbank 54_36p 1 reviewed missense c.1138 p.P380S 1 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBX4 9496 hgsc.bcm.edu 36 17 56915244 56915244 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 56915244 56915244 A G SNP TBX4 NM_018488 human genbank 54_36p 1 reviewed missense c.1223 p.D408G 1 NULL "HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors TEKT1 83659 hgsc.bcm.edu 36 17 6663236 6663236 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 6663236 6663236 C A SNP TEKT1 NM_053285 human genbank 54_36p -1 reviewed missense c.356 p.R119M 1 HMMPfam_Tektin HMMPfam_Tektin - no_errors TEKT3 64518 hgsc.bcm.edu 36 17 15175183 15175183 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 15175183 15175183 G A SNP TEKT3 NM_031898 human genbank 54_36p -1 reviewed missense c.445 p.R149C 1 HMMPfam_Tektin HMMPfam_Tektin - no_errors TEX14 56155 hgsc.bcm.edu 36 17 53993928 53993928 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 53993928 53993928 G A SNP TEX14 NM_198393 human genbank 54_36p -1 reviewed missense c.4229 p.P1410L 0.87 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr" - no_errors TEX14 56155 hgsc.bcm.edu 36 17 54054028 54054028 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 54054028 54054028 C T SNP TEX14 NM_198393 human genbank 54_36p -1 reviewed missense c.536 p.C179Y 0.99 NULL "HMMPfam_Pkinase_Tyr,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_Kinase_like" - no_errors TEX2 55852 hgsc.bcm.edu 36 17 59619296 59619296 + Silent SNP C C G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 59619296 59619296 C G SNP TEX2 NM_018469 human genbank 54_36p -1 validated silent c.2409 p.L803 0.89 NULL "PatternScan_PTS_HPR_SER,HMMSmart_PH,HMMPfam_DUF2404" - no_errors TM4SF5 9032 hgsc.bcm.edu 36 17 4632568 4632568 + Silent SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 4632568 4632568 G A SNP TM4SF5 NM_003963 human genbank 54_36p 1 reviewed silent c.282 p.S94 0.19 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors TNS4 84951 hgsc.bcm.edu 36 17 35892141 35892142 + Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 35892141 35892142 - T INS TNS4 NM_032865 human genbank 54_36p -1 validated frame_shift_ins c.1555_1554 p.G518fs 1.000:1.000 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMPfam_PTB" - no_errors TOB1 10140 hgsc.bcm.edu 36 17 46296048 46296049 + Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 46296048 46296049 - A INS TOB1 NM_005749 human genbank 54_36p -1 reviewed frame_shift_ins c.330_329 p.K110fs 1.000:1.000 HMMPfam_BTG "HMMSmart_SM00099,HMMPfam_BTG,PatternScan_BTG_1,PatternScan_BTG_2" - no_errors TRIM65 201292 hgsc.bcm.edu 36 17 71398629 71398629 + Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 71398629 71398629 G - DEL TRIM65 NM_173547 human genbank 54_36p -1 validated frame_shift_del c.1380 p.C461fs 0.95 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449" "(deletion:cds_exon[71398455,71399023])" no_errors TRPV3 162514 hgsc.bcm.edu 36 17 3374364 3374364 + Silent SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 3374364 3374364 A G SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed silent c.1621 p.L541 1 HMMPfam_Ion_trans "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors USP22 23326 hgsc.bcm.edu 36 17 20855138 20855139 + Frame_Shift_Del DEL GG GG - novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 GG GG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 20855138 20855139 GG - DEL USP22 NM_015276 human genbank 54_36p -1 validated frame_shift_del c.1021_1020 p.L341fs 1.000:0.859 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" "(deletion:cds_exon[20855056,20855214])" no_errors USP36 57602 hgsc.bcm.edu 36 17 74310144 74310149 + In_Frame_Del DEL TTTTTC TTTTTC - novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 TTTTTC TTTTTC . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 74310144 74310149 TTTTTC - DEL USP36 NM_025090 human genbank 54_36p -1 validated in_frame_del c.2879_2874 p.KK959in_frame_del 0.331:0.331:0.310:0.343:0.348:0.354 NULL "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_IG_MHC" "(deletion:cds_exon[74310001,74310212])" no_errors USP6 9098 hgsc.bcm.edu 36 17 4977965 4977965 + Silent SNP G G A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 4977965 4977965 G A SNP USP6 NM_004505 human genbank 54_36p 1 validated silent c.444 p.V148 0.99 "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors WSCD1 23302 hgsc.bcm.edu 36 17 5934489 5934491 + In_Frame_Del DEL GGG GGG - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 GGG GGG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 5934489 5934491 GGG - DEL WSCD1 NM_015253 human genbank 54_36p 1 validated in_frame_del c.667_669 p.G223in_frame_del 1.000:1.000:0.993 "HMMSmart_WSC,HMMPfam_WSC" "HMMSmart_WSC,HMMPfam_WSC,superfamily_SSF52540" "(deletion:cds_exon[5934365,5934549])" no_errors ZBTB4 57659 hgsc.bcm.edu 36 17 7310833 7310834 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 7310833 7310834 - G INS ZBTB4 NM_020899 human genbank 54_36p -1 validated frame_shift_ins c.12_11 p.A5fs 0.976:0.990 superfamily_POZ domain "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF286A 57335 hgsc.bcm.edu 36 17 15552269 15552269 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 15552269 15552269 C T SNP ZNF286A NM_020652 human genbank 54_36p 1 validated missense c.317 p.P106L 0.01 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ALPK2 115701 hgsc.bcm.edu 36 18 54342170 54342170 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 18 54342170 54342170 G A SNP ALPK2 NM_052947 human genbank 54_36p -1 validated missense c.5606 p.A1869V 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Protein kinase-like (PK-like)" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase" - no_errors ALPK2 115701 hgsc.bcm.edu 36 18 54397446 54397446 + Silent SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 54397446 54397446 C T SNP ALPK2 NM_052947 human genbank 54_36p -1 validated silent c.1542 p.T514 0 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors ANKRD12 23253 hgsc.bcm.edu 36 18 9245224 9245224 + Silent SNP T T C novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 9245224 9245224 T C SNP ANKRD12 NM_015208 human genbank 54_36p 1 validated silent c.1959 p.H653 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors ASXL3 80816 hgsc.bcm.edu 36 18 29578248 29578248 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 29578248 29578248 A T SNP ASXL3 NM_030632 human genbank 54_36p 1 validated missense c.4438 p.T1480S 1 NULL NULL - no_errors ASXL3 80816 hgsc.bcm.edu 36 18 29579797 29579798 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 29579797 29579798 - G INS ASXL3 NM_030632 human genbank 54_36p 1 validated frame_shift_ins c.5987_5988 p.K1997fs 0.524:0.456 NULL NULL - no_errors ATP8B1 5205 hgsc.bcm.edu 36 18 53472236 53472236 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 18 53472236 53472236 C A SNP ATP8B1 NM_005603 human genbank 54_36p -1 reviewed missense c.3001 p.G1001W 1 superfamily_SSF81665 "superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660" - no_errors ATP9B 374868 hgsc.bcm.edu 36 18 75198300 75198300 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 75198300 75198300 G A SNP ATP9B NM_198531 human genbank 54_36p 1 validated missense c.2146 p.D716N 0.99 "superfamily_HAD-like,HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N" "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors C18orf1 753 hgsc.bcm.edu 36 18 13611197 13611197 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 18 13611197 13611197 A G SNP C18orf1 NM_181481 human genbank 54_36p 1 validated missense c.263 p.H88R 1 NULL "superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors C18orf34 374864 hgsc.bcm.edu 36 18 29157491 29157491 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 29157491 29157491 C A SNP C18orf34 NM_001105528 human genbank 54_36p -1 validated missense c.984 p.K328N 0 NULL NULL - no_errors FAM69C 125704 hgsc.bcm.edu 36 18 70254717 70254717 + Frame_Shift_Del DEL T T - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 70254717 70254717 T - DEL C18orf51 NM_001044369 human genbank 54_36p -1 validated frame_shift_del c.362 p.*121fs 0.25 NULL NULL "(deletion:cds_exon[70254716,70254934])" no_errors CABLES1 91768 hgsc.bcm.edu 36 18 19087758 19087758 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 19087758 19087758 G A SNP CABLES1 NM_001100619 human genbank 54_36p 1 validated missense c.1621 p.A541T 1 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors CDH7 1005 hgsc.bcm.edu 36 18 61678026 61678034 + In_Frame_Del DEL TTGAAAGAT TTGAAAGAT - novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 TTGAAAGAT TTGAAAGAT - - TTGAAAGAT TTGAAAGAT Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 18 61678026 61678034 TTGAAAGAT - DEL CDH7 NM_004361 human genbank 54_36p 1 reviewed in_frame_del c.1597_1605 p.LKD533in_frame_del 0.022:0.859:0.862:0.986:0.994:0.992:1.000:1.000:0.981 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" "(deletion:cds_exon[61677924,61678041])" no_errors CETN1 1068 hgsc.bcm.edu 36 18 570475 570475 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 570475 570475 C - DEL CETN1 NM_004066 human genbank 54_36p 1 reviewed frame_shift_del c.67 p.E24fs 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,PatternScan_DEAD_ATP_HELICASE" "(deletion:cds_exon[570409,570927])" no_errors CLUL1 27098 hgsc.bcm.edu 36 18 634982 634982 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 634982 634982 C A SNP CLUL1 NM_014410 human genbank 54_36p 1 validated missense c.1282 p.P428T 0.99 "HMMPfam_Clusterin,HMMSmart_CLa" "HMMPfam_Clusterin,HMMSmart_CLb,HMMSmart_CLa" - no_errors DCC 1630 hgsc.bcm.edu 36 18 48959483 48959483 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 18 48959483 48959483 G C SNP DCC NM_005215 human genbank 54_36p 1 validated missense c.1572 p.E524D 1 superfamily_Fibronectin type III "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C" - no_errors DCC 1630 hgsc.bcm.edu 36 18 48988184 48988184 + Silent SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 18 48988184 48988184 C T SNP DCC NM_005215 human genbank 54_36p 1 validated silent c.1860 p.D620 1 superfamily_Fibronectin type III "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_Neogenin_C,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors DSC3 1825 hgsc.bcm.edu 36 18 26835613 26835613 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 26835613 26835613 G A SNP DSC3 NM_001941 human genbank 54_36p -1 reviewed missense c.2204 p.S735L 1 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DSEL 92126 hgsc.bcm.edu 36 18 63332454 63332454 + Silent SNP A A G novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 63332454 63332454 A G SNP DSEL NM_032160 human genbank 54_36p -1 validated silent c.402 p.N134 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors EPB41L3 23136 hgsc.bcm.edu 36 18 5406037 5406037 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 18 5406037 5406037 A T SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.1847 p.L616H 1 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD" - no_errors FAM59A 64762 hgsc.bcm.edu 36 18 28120994 28120994 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 28120994 28120994 C G SNP FAM59A NM_022751 human genbank 54_36p -1 predicted missense c.1564 p.A522P 1 NULL "superfamily_SAM_homology,HMMPfam_SAM_1" - no_errors GALNT1 2589 hgsc.bcm.edu 36 18 31521018 31521018 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 31521018 31521018 G A SNP GALNT1 NM_020474 human genbank 54_36p 1 reviewed missense c.730 p.D244N 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors KCTD1 284252 hgsc.bcm.edu 36 18 22293730 22293730 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 22293730 22293730 G A SNP KCTD1 NM_198991 human genbank 54_36p -1 validated missense c.467 p.T156M 1 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" - no_errors KIAA0427 9811 hgsc.bcm.edu 36 18 44541794 44541794 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 18 44541794 44541794 G C SNP KIAA0427 NM_014772 human genbank 54_36p 1 validated missense c.1107 p.Q369H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" - no_errors KIAA1632 57724 hgsc.bcm.edu 36 18 41750070 41750070 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 41750070 41750070 C G SNP KIAA1632 NM_020964 human genbank 54_36p -1 validated missense c.3484 p.E1162Q 1 NULL NULL - no_errors LAMA1 284217 hgsc.bcm.edu 36 18 6961901 6961901 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 6961901 6961901 C G SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.6854 p.W2285S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LAMA1 284217 hgsc.bcm.edu 36 18 6976307 6976307 + Silent SNP G G A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 6976307 6976307 G A SNP LAMA1 NM_005559 human genbank 54_36p -1 validated silent c.5208 p.Y1736 0 "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I" ############################################################################################################################################################################################################################################################### - no_errors LAMA1 284217 hgsc.bcm.edu 36 18 6989480 6989480 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 18 6989480 6989480 C A SNP LAMA1 NM_005559 human genbank 54_36p -1 validated nonsense c.4627 p.E1543* 0.86 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors MAPRE2 10982 hgsc.bcm.edu 36 18 30904249 30904249 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 30904249 30904249 C A SNP MAPRE2 NM_014268 human genbank 54_36p 1 reviewed missense c.215 p.S72Y 1 "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMPfam_EB1" - no_errors MC2R 4158 hgsc.bcm.edu 36 18 13874979 13874979 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 13874979 13874979 G A SNP MC2R NM_000529 human genbank 54_36p -1 reviewed missense c.539 p.S180L 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MEP1B 4225 hgsc.bcm.edu 36 18 28049142 28049142 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 28049142 28049142 G C SNP MEP1B NM_005925 human genbank 54_36p 1 validated missense c.1679 p.S560T 0.47 "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" "superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors MIB1 57534 hgsc.bcm.edu 36 18 17632062 17632062 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 17632062 17632062 G A SNP MIB1 NM_020774 human genbank 54_36p 1 validated missense c.1112 p.R371Q 1 NULL "PatternScan_ZF_RING_1,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors MPPE1 65258 hgsc.bcm.edu 36 18 11876921 11876921 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 11876921 11876921 G A SNP MPPE1 NM_023075 human genbank 54_36p -1 validated nonsense c.673 p.R225* 0.97 "superfamily_Metallo-dependent phosphatases,HMMPfam_Metallophos" "superfamily_Metallo-dependent phosphatases,HMMPfam_Metallophos,PatternScan_HEMOPEXIN" - no_errors NDC80 10403 hgsc.bcm.edu 36 18 2606527 2606527 + Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 18 2606527 2606527 A - DEL NDC80 NM_006101 human genbank 54_36p 1 validated frame_shift_del c.1883 p.D628fs 1 NULL HMMPfam_Ndc80_HEC "(deletion:cds_exon[2606436,2606573])" no_errors NEDD4L 23327 hgsc.bcm.edu 36 18 54063704 54063704 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 54063704 54063704 C A SNP NEDD4L NM_015277 human genbank 54_36p 1 validated missense c.188 p.T63K 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors PHLPP1 23239 hgsc.bcm.edu 36 18 58776856 58776856 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 18 58776856 58776856 C A SNP PHLPP NM_194449 human genbank 54_36p 1 validated missense c.1803 p.S601R 1 superfamily_L domain-like "HMMPfam_PH,superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C" - no_errors PIAS2 9063 hgsc.bcm.edu 36 18 42662067 42662067 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 42662067 42662067 C A SNP PIAS2 NM_004671 human genbank 54_36p -1 validated missense c.1361 p.C454F 1 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors PIGN 23556 hgsc.bcm.edu 36 18 57976014 57976014 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 57976014 57976014 T C SNP PIGN ENST00000357637 human ensembl 54_36p -1 known missense c.229 p.I77V 0.99 "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest,HMMPfam_PigN" - no_errors POLI 11201 hgsc.bcm.edu 36 18 50051770 50051770 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 50051770 50051770 G C SNP POLI NM_007195 human genbank 54_36p 1 validated missense c.158 p.R53T 1 superfamily_DNA/RNA polymerases "superfamily_DNA/RNA polymerases,HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain" - no_errors RTTN 25914 hgsc.bcm.edu 36 18 65946681 65946681 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 18 65946681 65946681 C A SNP RTTN NM_173630 human genbank 54_36p -1 validated missense c.3036 p.L1012F 1 NULL superfamily_ARM repeat - no_errors STARD6 147323 hgsc.bcm.edu 36 18 50117577 50117581 + Frame_Shift_Del DEL TAGTT TAGTT - novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 TAGTT TAGTT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 50117577 50117581 TAGTT - DEL STARD6 NM_139171 human genbank 54_36p -1 provisional frame_shift_del c.183_179 p.K60fs 0.896:0.871:0.633:0.348:0.375 "superfamily_SSF55961,HMMPfam_START,HMMSmart_START" "superfamily_SSF55961,HMMPfam_START,HMMSmart_START" "(deletion:cds_exon[50117493,50117619])" no_errors TTC39C 125488 hgsc.bcm.edu 36 18 19914798 19914798 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 19914798 19914798 C T SNP TTC39C NM_153211 human genbank 54_36p 1 validated missense c.529 p.L177F 1 HMMPfam_Deme6 "HMMPfam_Deme6,superfamily_SSF48452" - no_errors TTR 7276 hgsc.bcm.edu 36 18 27429116 27429116 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 27429116 27429116 C T SNP TTR NM_000371 human genbank 54_36p 1 reviewed missense c.236 p.T79I 0.98 "superfamily_Transthyretin,HMMSmart_TR_THY,HMMPfam_Transthyretin" "superfamily_Transthyretin,HMMSmart_TR_THY,HMMPfam_Transthyretin,PatternScan_TRANSTHYRETIN_1,PatternScan_TRANSTHYRETIN_2" - no_errors TXNDC2 84203 hgsc.bcm.edu 36 18 9877064 9877064 + Silent SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 18 9877064 9877064 G A SNP TXNDC2 NM_001098529 human genbank 54_36p 1 validated silent c.588 p.K196 0 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" - no_errors VPS4B 9525 hgsc.bcm.edu 36 18 59218825 59218825 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 59218825 59218825 G C SNP VPS4B NM_004869 human genbank 54_36p -1 reviewed missense c.576 p.N192K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "HMMSmart_SM00745,HMMPfam_MIT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Vps4_C" - no_errors WDR7 23335 hgsc.bcm.edu 36 18 52754083 52754083 + Silent SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 18 52754083 52754083 G A SNP WDR7 NM_015285 human genbank 54_36p 1 reviewed silent c.3780 p.S1260 0.25 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_Prolyl oligopeptidase N-terminal domain,PatternScan_WD_REPEATS_1,superfamily_WD40 repeat-like" - no_errors ZBTB7C 201501 hgsc.bcm.edu 36 18 43821394 43821394 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 43821394 43821394 C T SNP ZBTB7C NM_001039360 human genbank 54_36p -1 validated missense c.83 p.R28Q 1 "superfamily_POZ domain,HMMPfam_BTB" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors ZNF407 55628 hgsc.bcm.edu 36 18 70472001 70472001 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 18 70472001 70472001 A G SNP ZNF407 NM_017757 human genbank 54_36p 1 provisional missense c.38 p.D13G 0.89 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00451,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors MARCH2 51257 hgsc.bcm.edu 36 19 8397569 8397569 + Missense_Mutation SNP A A T novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 8397569 8397569 A T SNP 03/02/10 NM_001005415 human genbank 54_36p 1 validated missense c.253 p.T85S 1 "superfamily_SSF57850,HMMSmart_RINGv,HMMPfam_zf-C3HC4" "superfamily_SSF57850,HMMSmart_RINGv,HMMPfam_zf-C3HC4" - no_errors AKAP8 10270 hgsc.bcm.edu 36 19 15330826 15330826 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 15330826 15330826 A C SNP AKAP8 NM_005858 human genbank 54_36p -1 reviewed missense c.1575 p.S525R 1 HMMPfam_AKAP95 "superfamily_SSF56935,HMMSmart_ZnF_C2H2,HMMPfam_AKAP95,HMMPfam_RII_binding_1" - no_errors ANKRD24 170961 hgsc.bcm.edu 36 19 4161079 4161079 + Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 4161079 4161079 C - DEL ANKRD24 NM_133475 human genbank 54_36p 1 provisional frame_shift_del c.895 p.Q299fs 0.02 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "(deletion:cds_exon[4161055,4161135])" no_errors ATP8B3 148229 hgsc.bcm.edu 36 19 1734212 1734212 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 1734212 1734212 G A SNP ATP8B3 NM_138813 human genbank 54_36p -1 reviewed missense c.3718 p.H1240Y 0 NULL "superfamily_SSF81653,HMMPfam_E1-E2_ATPase,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3,PatternScan_EF_HAND_1" - no_errors AURKC 6795 hgsc.bcm.edu 36 19 62435364 62435364 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 62435364 62435364 C G SNP AURKC NM_001015878 human genbank 54_36p 1 reviewed missense c.256 p.H86D 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BCAT2 587 hgsc.bcm.edu 36 19 54001784 54001784 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 54001784 54001784 A - DEL BCAT2 NM_001190 human genbank 54_36p -1 validated frame_shift_del c.102 p.A35fs 0.93 superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes "superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes,HMMPfam_Aminotran_4,PatternScan_AA_TRANSFER_CLASS_4" "(deletion:cds_exon[54001586,54001786])" no_errors BLOC1S3 388552 hgsc.bcm.edu 36 19 50374977 50374977 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 50374977 50374977 G - DEL BLOC1S3 NM_212550 human genbank 54_36p 1 reviewed frame_shift_del c.583 p.E195fs 0.12 NULL NULL "(deletion:cds_exon[50374395,50375003])" no_errors BST2 684 hgsc.bcm.edu 36 19 17377374 17377374 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 17377374 17377374 G A SNP BST2 NM_004335 human genbank 54_36p -1 reviewed missense c.11 p.T4I 0 NULL NULL - no_errors C19orf18 147685 hgsc.bcm.edu 36 19 63161859 63161859 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 63161859 63161859 G C SNP C19orf18 NM_152474 human genbank 54_36p -1 predicted missense c.571 p.L191V 0.01 NULL NULL - no_errors C19orf44 84167 hgsc.bcm.edu 36 19 16481461 16481463 + In_Frame_Del DEL AGC AGC - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 AGC AGC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 16481461 16481463 AGC - DEL C19orf44 NM_032207 human genbank 54_36p 1 validated in_frame_del c.1301_1303 p.EH434in_frame_delD 0.564:0.538:0.220 NULL NULL "(deletion:cds_exon[16481310,16481799])" no_errors C19orf47 126526 hgsc.bcm.edu 36 19 45533868 45533868 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 45533868 45533868 C T SNP C19orf47 NM_178830 human genbank 54_36p -1 predicted missense c.121 p.V41M 1 NULL NULL - no_errors C19orf57 79173 hgsc.bcm.edu 36 19 13862101 13862101 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 13862101 13862101 G T SNP C19orf57 NM_024323 human genbank 54_36p -1 predicted missense c.568 p.Q190K 0.03 NULL NULL - no_errors C19orf6 91304 hgsc.bcm.edu 36 19 962130 962130 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 962130 962130 T - DEL C19orf6 NM_001033026 human genbank 54_36p -1 validated frame_shift_del c.1282 p.S428fs 1 NULL HMMPfam_Membralin "(deletion:cds_exon[962095,962194])" no_errors CACNA1A 773 hgsc.bcm.edu 36 19 13184516 13184521 + In_Frame_Del DEL CGGGGG CGGGGG - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 CGGGGG CGGGGG CGGGGG - CGGGGG CGGGGG Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 13184516 13184521 CGGGGG - DEL CACNA1A ENST00000325084 human ensembl 54_36p -1 known in_frame_del c.5982_5977 p.PP1993in_frame_del 0.608:0.862:0.862:0.791:0.999:1.000 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" "(deletion:cds_exon[13184445,13184554])" no_errors CAPN12 147968 hgsc.bcm.edu 36 19 43926452 43926452 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 43926452 43926452 G A SNP CAPN12 NM_144691 human genbank 54_36p -1 validated missense c.194 p.P65L 0.8 "superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2" ############################################################################################################################################################################################################################################################### - no_errors CASP14 23581 hgsc.bcm.edu 36 19 15027304 15027304 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 15027304 15027304 T A SNP CASP14 NM_012114 human genbank 54_36p 1 reviewed missense c.584 p.F195Y 0.96 "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14" "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_CYS" - no_errors CBLC 23624 hgsc.bcm.edu 36 19 49989347 49989347 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 49989347 49989347 C T SNP CBLC NM_012116 human genbank 54_36p 1 validated missense c.1331 p.P444L 0.01 NULL "HMMPfam_Cbl_N,superfamily_N-terminal domain of cbl (N-cbl),HMMPfam_Cbl_N2,superfamily_EF-hand,HMMPfam_Cbl_N3,superfamily_SH2 domain,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors CCDC123 84902 hgsc.bcm.edu 36 19 38142646 38142646 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 38142646 38142646 C A SNP CCDC123 NM_032816 human genbank 54_36p -1 validated missense c.305 p.R102L 0.48 NULL NULL - no_errors CCDC155 147872 hgsc.bcm.edu 36 19 54589629 54589629 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 54589629 54589629 C T SNP CCDC155 NM_144688 human genbank 54_36p 1 provisional missense c.128 p.A43V 1 NULL NULL - no_errors CD3EAP 10849 hgsc.bcm.edu 36 19 50604020 50604020 + Silent SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 50604020 50604020 G A SNP CD3EAP NM_012099 human genbank 54_36p 1 provisional silent c.954 p.L318 0.81 NULL HMMPfam_RNA_polI_A34 - no_errors CD79A 973 hgsc.bcm.edu 36 19 47074976 47074976 + Silent SNP C C T novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 47074976 47074976 C T SNP CD79A NM_001783 human genbank 54_36p 1 reviewed silent c.156 p.F52 0.05 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ITAM,HMMSmart_SM00077" - no_errors CEACAM18 729767 hgsc.bcm.edu 36 19 56673604 56673604 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 56673604 56673604 C T SNP CEACAM18 NM_001080405 human genbank 54_36p 1 provisional nonsense c.79 p.R27* 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors CEACAM20 125931 hgsc.bcm.edu 36 19 49707978 49707978 + Splice_Site SNP T T C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 49707978 49707978 T C SNP CEACAM20 ENST00000316962 human ensembl 54_36p -1 known splice_site c.1511-2 e10-2 0.8 - - - no_errors CEACAM6 4680 hgsc.bcm.edu 36 19 46952499 46952499 + Silent SNP A A G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 46952499 46952499 A G SNP CEACAM6 NM_002483 human genbank 54_36p 1 validated silent c.216 p.R72 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors COMP 1311 hgsc.bcm.edu 36 19 18757323 18757324 + Frame_Shift_Ins INS - - GA novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 18757323 18757324 - GA INS COMP NM_000095 human genbank 54_36p -1 reviewed frame_shift_ins c.1702_1701 p.P567fs 1.000:1.000 "superfamily_ConA_like_lec_gl,HMMPfam_TSP_C" "PatternScan_EGF_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,superfamily_ConA_like_lec_gl,HMMPfam_TSP_C" - no_errors CPAMD8 27151 hgsc.bcm.edu 36 19 16900883 16900884 + Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 16900883 16900884 - C INS CPAMD8 NM_015692 human genbank 54_36p -1 validated frame_shift_ins c.3154_3153 p.H1051fs 0.972:0.910 NULL ############################################################################################################################################################################################################################################################### - no_errors CPAMD8 27151 hgsc.bcm.edu 36 19 16993877 16993877 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 16993877 16993877 C G SNP CPAMD8 NM_015692 human genbank 54_36p -1 validated missense c.348 p.Q116H 1 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors CRLF1 9244 hgsc.bcm.edu 36 19 18568727 18568728 + Frame_Shift_Del DEL CG CG - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 CG CG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 18568727 18568728 CG - DEL CRLF1 NM_004750 human genbank 54_36p -1 validated frame_shift_del c.830_829 p.R277fs 0.992:0.998 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "superfamily_FN_III-like,HMMPfam_EpoR_lig-bind,HMMSmart_FN3,HMMPfam_fn3" "(deletion:cds_exon[18568702,18568859])" no_errors CYP2A7 1549 hgsc.bcm.edu 36 19 46078260 46078260 + Missense_Mutation SNP A A C rs56081734 Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 46078260 46078260 A C SNP CYP2A7 NM_000764 human genbank 54_36p -1 reviewed missense c.457 p.S153A 0 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYTH2 9266 hgsc.bcm.edu 36 19 53669277 53669277 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 53669277 53669277 G A SNP CYTH2 NM_017457 human genbank 54_36p 1 reviewed missense c.574 p.V192I 0.75 "superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222" "superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors DDX49 54555 hgsc.bcm.edu 36 19 18898162 18898162 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 18898162 18898162 G T SNP DDX49 NM_019070 human genbank 54_36p 1 provisional missense c.1078 p.V360L 1 superfamily_SSF52540 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors DNASE2 1777 hgsc.bcm.edu 36 19 12847912 12847912 + Silent SNP T T G novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 12847912 12847912 T G SNP DNASE2 NM_001375 human genbank 54_36p -1 reviewed silent c.975 p.T325 0 HMMPfam_DNase_II "HMMPfam_DNase_II,PatternScan_AKH" - no_errors DNMT1 1786 hgsc.bcm.edu 36 19 10109608 10109608 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 10109608 10109608 G A SNP DNMT1 NM_001379 human genbank 54_36p -1 reviewed missense c.4145 p.S1382L 0.82 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "HMMPfam_DMAP_binding,HMMPfam_zf-CXXC,HMMPfam_BAH,HMMSmart_SM00439,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1,PatternScan_C5_MTASE_2" - no_errors DOCK6 57572 hgsc.bcm.edu 36 19 11172647 11172647 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 11172647 11172647 G A SNP DOCK6 NM_020812 human genbank 54_36p -1 validated missense c.5770 p.P1924S 1 HMMPfam_Ded_cyto HMMPfam_Ded_cyto - no_errors DOCK6 57572 hgsc.bcm.edu 36 19 11214933 11214933 + Splice_Site SNP C C A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 11214933 11214933 C A SNP DOCK6 NM_020812 human genbank 54_36p -1 validated splice_site c.1386+1 e12+1 1 - - - no_errors DPY19L3 147991 hgsc.bcm.edu 36 19 37637701 37637701 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 37637701 37637701 G A SNP DPY19L3 NM_207325 human genbank 54_36p 1 provisional missense c.1004 p.G335E 1 HMMPfam_DUF2211 HMMPfam_DUF2211 - no_errors DPY19L3 147991 hgsc.bcm.edu 36 19 37647510 37647510 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 37647510 37647510 C G SNP DPY19L3 NM_207325 human genbank 54_36p 1 provisional missense c.1594 p.L532V 1 HMMPfam_DUF2211 HMMPfam_DUF2211 - no_errors ELAVL3 1995 hgsc.bcm.edu 36 19 11430363 11430363 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 11430363 11430363 G A SNP ELAVL3 NM_001420 human genbank 54_36p -1 reviewed missense c.397 p.P133S 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00361,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors EPS15L1 58513 hgsc.bcm.edu 36 19 16413987 16413987 + Splice_Site SNP A A G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 16413987 16413987 A G SNP EPS15L1 NM_021235 human genbank 54_36p -1 provisional splice_site c.75+2 e2+2 1 - - - no_errors ERCC2 2068 hgsc.bcm.edu 36 19 50550798 50550798 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 50550798 50550798 G C SNP ERCC2 NM_000400 human genbank 54_36p -1 reviewed missense c.1508 p.A503G 1 NULL "superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_DEAD_2,PatternScan_DEAH_ATP_HELICASE,HMMPfam_DUF1227,HMMSmart_HELICc2" - no_errors FAM129C 199786 hgsc.bcm.edu 36 19 17505411 17505411 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 17505411 17505411 G A SNP FAM129C NM_173544 human genbank 54_36p 1 validated missense c.421 p.G141S 0.01 "superfamily_PH domain-like,HMMSmart_SM00233" "superfamily_PH domain-like,HMMSmart_SM00233" - no_errors FBN3 84467 hgsc.bcm.edu 36 19 8106925 8106925 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 8106925 8106925 C A SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed missense c.1511 p.R504L 1 "PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181" "HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain" - no_errors FCGBP 8857 hgsc.bcm.edu 36 19 45100661 45100661 + Missense_Mutation SNP C G G rs45613437 Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 45100661 45100661 C G SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.4018 p.V1340L 0 "HMMSmart_VWD,HMMPfam_VWD" "HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC" - no_errors C19orf75 284369 hgsc.bcm.edu 36 19 56460670 56460670 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 56460670 56460670 A T SNP FLJ40235 NM_173635 human genbank 54_36p 1 predicted nonsense c.259 p.K87* 0.83 NULL NULL - no_errors FOSB 2354 hgsc.bcm.edu 36 19 50665777 50665777 + Silent SNP C C G novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 50665777 50665777 C G SNP FOSB NM_006732 human genbank 54_36p 1 reviewed silent c.177 p.T59 1 NULL "PatternScan_SUBTILASE_SER,HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC" - no_errors FPR1 2357 hgsc.bcm.edu 36 19 56941244 56941244 + Missense_Mutation SNP C C A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 56941244 56941244 C A SNP FPR1 NM_002029 human genbank 54_36p -1 validated missense c.816 p.L272F 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GADD45B 4616 hgsc.bcm.edu 36 19 2428147 2428148 + Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 2428147 2428148 - G INS GADD45B NM_015675 human genbank 54_36p 1 reviewed frame_shift_ins c.267_268 p.V89fs 0.999:1.000 HMMPfam_Ribosomal_L7Ae HMMPfam_Ribosomal_L7Ae - no_errors GADD45GIP1 90480 hgsc.bcm.edu 36 19 12926326 12926326 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 12926326 12926326 G T SNP GADD45GIP1 NM_052850 human genbank 54_36p -1 provisional missense c.365 p.A122E 0.1 HMMPfam_CR6_interact HMMPfam_CR6_interact - no_errors GEMIN7 79760 hgsc.bcm.edu 36 19 50285351 50285351 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 50285351 50285351 G T SNP GEMIN7 NM_001007269 human genbank 54_36p 1 reviewed missense c.139 p.A47S 0 NULL NULL - no_errors GPR4 2828 hgsc.bcm.edu 36 19 50786000 50786000 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 50786000 50786000 G T SNP GPR4 NM_005282 human genbank 54_36p -1 validated missense c.965 p.T322N 1 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GRIN2D 2906 hgsc.bcm.edu 36 19 53614307 53614307 + Silent SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 53614307 53614307 C T SNP GRIN2D NM_000836 human genbank 54_36p 1 reviewed silent c.1740 p.P580 1 "superfamily_SSF53850,HMMSmart_PBPe" "superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRLF1 2909 hgsc.bcm.edu 36 19 52114999 52114999 + Silent SNP C C A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 52114999 52114999 C A SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed silent c.1227 p.T409 0 HMMSmart_SM00441 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors GRLF1 2909 hgsc.bcm.edu 36 19 52116700 52116700 + Silent SNP G G A novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 52116700 52116700 G A SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed silent c.2928 p.P976 0.11 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GSK3A 2931 hgsc.bcm.edu 36 19 47436052 47436052 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 47436052 47436052 G C SNP GSK3A NM_019884 human genbank 54_36p -1 validated missense c.366 p.I122M 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GYS1 2997 hgsc.bcm.edu 36 19 54177337 54177337 + Missense_Mutation SNP T G G novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 T T G G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 54177337 54177337 T G SNP GYS1 NM_002103 human genbank 54_36p -1 provisional missense c.1049 p.N350T 1 "HMMPfam_Glycogen_syn,superfamily_SSF53756" "HMMPfam_Glycogen_syn,superfamily_SSF53756" - no_errors HAUS8 93323 hgsc.bcm.edu 36 19 17030444 17030444 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 17030444 17030444 T - DEL HICE1 NM_033417 human genbank 54_36p -1 validated frame_shift_del c.560 p.K187fs 0 NULL NULL "(deletion:cds_exon[17030359,17030517])" no_errors ICAM3 3385 hgsc.bcm.edu 36 19 10311218 10311218 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G A A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 10311218 10311218 G A SNP ICAM3 NM_002162 human genbank 54_36p -1 reviewed missense c.73 p.P25S 0.08 HMMPfam_ICAM_N "HMMPfam_ICAM_N,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors ILF3 3609 hgsc.bcm.edu 36 19 10650296 10650296 + Silent SNP A A G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 10650296 10650296 A G SNP ILF3 NM_012218 human genbank 54_36p 1 reviewed silent c.567 p.L189 1 "HMMSmart_SM00572,HMMPfam_DZF" "HMMSmart_SM00572,HMMPfam_DZF,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" - no_errors ILF3 3609 hgsc.bcm.edu 36 19 10653682 10653683 + Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 10653682 10653683 - C INS ILF3 NM_012218 human genbank 54_36p 1 reviewed frame_shift_ins c.1194_1195 p.Q400fs 0.998:0.999 superfamily_dsRNA-binding domain-like "HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_DZF,HMMSmart_SM00572,superfamily_dsRNA-binding domain-like" - no_errors ILVBL 10994 hgsc.bcm.edu 36 19 15089699 15089699 + Silent SNP A A T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 15089699 15089699 A T SNP ILVBL NM_006844 human genbank 54_36p -1 reviewed silent c.1179 p.A393 0.79 "superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_TPP_enzyme_M" "HMMPfam_TPP_enzyme_N,superfamily_Thiamin diphosphate-binding fold (THDP-binding),superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_TPP_enzyme_M,HMMPfam_TPP_enzyme_C,PatternScan_TPP_ENZYMES" - no_errors IRF3 3661 hgsc.bcm.edu 36 19 54857686 54857686 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 54857686 54857686 C T SNP IRF3 NM_001571 human genbank 54_36p -1 validated missense c.409 p.E137K 0.06 NULL "HMMSmart_IRF,superfamily_SSF46785,HMMPfam_IRF,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3" - no_errors KIR2DL4 3805 hgsc.bcm.edu 36 19 60006956 60006956 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 60006956 60006956 T A SNP KIR2DL4 NM_001080770 human genbank 54_36p 1 reviewed missense c.38 p.L13H 0.16 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors KIR2DL4 3805 hgsc.bcm.edu 36 19 60016487 60016487 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 60016487 60016487 A - DEL KIR2DL4 NM_001080772 human genbank 54_36p 1 reviewed frame_shift_del c.802 p.M271fs 0 NULL "HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "(deletion:cds_exon[60016392,60016495])" no_errors KIR3DL1 3811 hgsc.bcm.edu 36 19 60023022 60023022 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 60023022 60023022 T A SNP KIR3DL1 NM_013289 human genbank 54_36p 1 reviewed missense c.398 p.L133Q 0.01 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors KIR3DL3 115653 hgsc.bcm.edu 36 19 59931054 59931054 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 59931054 59931054 C T SNP KIR3DL3 NM_153443 human genbank 54_36p 1 reviewed missense c.521 p.A174V 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors KLC3 147700 hgsc.bcm.edu 36 19 50543809 50543809 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 50543809 50543809 C T SNP KLC3 NM_177417 human genbank 54_36p 1 reviewed missense c.845 p.T282M 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "HMMPfam_Rab5-bind,superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors KLK10 5655 hgsc.bcm.edu 36 19 56211177 56211177 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 56211177 56211177 C A SNP KLK10 NM_001077500 human genbank 54_36p -1 reviewed missense c.317 p.G106V 0.83 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS" - no_errors KLK7 5650 hgsc.bcm.edu 36 19 56172733 56172733 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 56172733 56172733 G T SNP KLK7 NM_005046 human genbank 54_36p -1 reviewed nonsense c.633 p.C211* 0.99 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors LAIR1 3903 hgsc.bcm.edu 36 19 59559971 59559971 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 59559971 59559971 A T SNP LAIR1 NM_002287 human genbank 54_36p -1 reviewed missense c.524 p.L175H 0.03 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors LAIR2 3904 hgsc.bcm.edu 36 19 59711144 59711144 + Silent SNP T T C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 59711144 59711144 T C SNP LAIR2 NM_002288 human genbank 54_36p 1 reviewed silent c.297 p.Y99 0 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors LILRB3 11025 hgsc.bcm.edu 36 19 59414824 59414827 + Frame_Shift_Del DEL TTGC TTGC - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 TTGC TTGC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 59414824 59414827 TTGC - DEL LILRB3 NM_001081450 human genbank 54_36p -1 reviewed frame_shift_del c.1412_1409 p.S470fs 0.002:0.002:0.001:0.000 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "(deletion:cds_exon[59414810,59414926])" no_errors MAN2B1 4125 hgsc.bcm.edu 36 19 12636781 12636781 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T C C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 12636781 12636781 T C SNP MAN2B1 NM_000528 human genbank 54_36p -1 reviewed missense c.455 p.N152S 1 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors MAP3K10 4294 hgsc.bcm.edu 36 19 45396137 45396137 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 45396137 45396137 C A SNP MAP3K10 NM_002446 human genbank 54_36p 1 reviewed missense c.698 p.A233D 0.96 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MAP3K10 4294 hgsc.bcm.edu 36 19 45412744 45412744 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 45412744 45412744 G A SNP MAP3K10 NM_002446 human genbank 54_36p 1 reviewed missense c.2570 p.R857H 1 NULL "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors MARK4 57787 hgsc.bcm.edu 36 19 50475515 50475515 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 50475515 50475515 G T SNP MARK4 NM_031417 human genbank 54_36p 1 provisional missense c.1050 p.E350D 0.99 "HMMPfam_UBA,HMMSmart_UBA" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_UBA,HMMSmart_UBA" - no_errors MARK4 57787 hgsc.bcm.edu 36 19 50475785 50475785 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 50475785 50475785 G A SNP MARK4 NM_031417 human genbank 54_36p 1 provisional missense c.1229 p.R410Q 1 NULL "HMMPfam_UBA,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_UBA,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors MAST1 22983 hgsc.bcm.edu 36 19 12823779 12823779 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 12823779 12823779 C A SNP MAST1 NM_014975 human genbank 54_36p 1 provisional missense c.806 p.A269D 1 HMMPfam_DUF1908 "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors MAST3 23031 hgsc.bcm.edu 36 19 18093499 18093500 + Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 18093499 18093500 - G INS MAST3 NM_015016 human genbank 54_36p 1 validated frame_shift_ins c.76_77 p.S27fs 1.000:1.000 NULL "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors MUC16 94025 hgsc.bcm.edu 36 19 8947715 8947716 + Frame_Shift_Ins INS - - ACTCATT novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 8947715 8947716 - ACTCATT INS MUC16 NM_024690 human genbank 54_36p -1 validated frame_shift_ins c.5100_5099 p.S1701fs 0.005:0.002 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 hgsc.bcm.edu 36 19 8948711 8948711 + Silent SNP A A T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 8948711 8948711 A T SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.4104 p.P1368 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MYBPC2 4606 hgsc.bcm.edu 36 19 55653730 55653731 + Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 55653730 55653731 - C INS MYBPC2 NM_004533 human genbank 54_36p 1 validated frame_shift_ins c.2413_2414 p.R806fs 1.000:0.999 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2" - no_errors MYO1F 4542 hgsc.bcm.edu 36 19 8522669 8522669 + Silent SNP G G A novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 8522669 8522669 G A SNP MYO1F NM_012335 human genbank 54_36p -1 provisional silent c.726 p.Y242 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors NCAN 1463 hgsc.bcm.edu 36 19 19195995 19195995 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 19195995 19195995 G A SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.641 p.R214H 1 "superfamily_C-type_lectin_fold,HMMSmart_LINK,HMMPfam_Xlink,PatternScan_LINK_1" ############################################################################################################################################################################################################################################################### - no_errors NFKBID 84807 hgsc.bcm.edu 36 19 41073211 41073211 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 41073211 41073211 C G SNP NFKBID NM_139239 human genbank 54_36p -1 provisional missense c.628 p.V210L 0.87 "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors NLRP12 91662 hgsc.bcm.edu 36 19 59002700 59002700 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 T T C C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 59002700 59002700 T C SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed missense c.2104 p.S702G 1 superfamily_RNI-like "HMMPfam_PAAD_DAPIN,superfamily_DEATH domain,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP4 147945 hgsc.bcm.edu 36 19 61061256 61061256 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 61061256 61061256 G A SNP NLRP4 NM_134444 human genbank 54_36p 1 validated missense c.685 p.V229I 0.99 "HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRP8 126205 hgsc.bcm.edu 36 19 61158007 61158007 + Silent SNP C C T novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 61158007 61158007 C T SNP NLRP8 NM_176811 human genbank 54_36p 1 provisional silent c.771 p.S257 0.85 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT" "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP8 126205 hgsc.bcm.edu 36 19 61182580 61182580 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 61182580 61182580 A T SNP NLRP8 NM_176811 human genbank 54_36p 1 provisional missense c.2885 p.N962I 0 "HMMSmart_SM00368,superfamily_RNI-like" "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NPHS1 4868 hgsc.bcm.edu 36 19 41025145 41025145 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 41025145 41025145 G A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated missense c.2482 p.R828W 0.98 HMMSmart_SM00409 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors NPHS1 4868 hgsc.bcm.edu 36 19 41025228 41025228 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 41025228 41025228 C T SNP NPHS1 NM_004646 human genbank 54_36p -1 validated missense c.2399 p.R800H 0.99 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors NR2C2AP 126382 hgsc.bcm.edu 36 19 19174199 19174199 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 19174199 19174199 C T SNP NR2C2AP NM_176880 human genbank 54_36p -1 validated missense c.244 p.G82S 0 superfamily_Gal_bind_like superfamily_Gal_bind_like - no_errors NWD1 284434 hgsc.bcm.edu 36 19 16731240 16731240 + Splice_Site SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 16731240 16731240 G A SNP NWD1 NM_001007525 human genbank 54_36p 1 validated splice_site c.1568+1 e3+1 1 - - - no_errors OR10H1 26539 hgsc.bcm.edu 36 19 15779201 15779201 + Missense_Mutation SNP A A G rs61745520 Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 15779201 15779201 A G SNP OR10H1 NM_013940 human genbank 54_36p -1 validated missense c.647 p.L216P 0.2 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10H1 26539 hgsc.bcm.edu 36 19 15779380 15779380 + Silent SNP C C T rs28426969 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 15779380 15779380 C T SNP OR10H1 NM_013940 human genbank 54_36p -1 validated silent c.468 p.G156 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR10H2 26538 hgsc.bcm.edu 36 19 15700078 15700078 + Silent SNP G G A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 15700078 15700078 G A SNP OR10H2 NM_013939 human genbank 54_36p 1 validated silent c.225 p.V75 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10H2 26538 hgsc.bcm.edu 36 19 15700642 15700642 + Silent SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 15700642 15700642 C A SNP OR10H2 NM_013939 human genbank 54_36p 1 validated silent c.789 p.P263 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR7D2 162998 hgsc.bcm.edu 36 19 9158069 9158069 + Silent SNP T T A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 9158069 9158069 T A SNP OR7D2 NM_175883 human genbank 54_36p 1 provisional silent c.612 p.G204 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PDE4A 5141 hgsc.bcm.edu 36 19 10433644 10433644 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 10433644 10433644 T A SNP PDE4A NM_006202 human genbank 54_36p 1 validated missense c.995 p.L332H 1 "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I" "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDE4C 5143 hgsc.bcm.edu 36 19 18182934 18182934 + Silent SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 18182934 18182934 G A SNP PDE4C NM_000923 human genbank 54_36p -1 validated silent c.1944 p.P648 0 superfamily_HD-domain/PDEase-like "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PEG3 5178 hgsc.bcm.edu 36 19 62019829 62019829 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 62019829 62019829 C T SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.1793 p.R598H 0.07 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PEG3 5178 hgsc.bcm.edu 36 19 62020752 62020752 + Silent SNP T T C novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 62020752 62020752 T C SNP PEG3 NM_006210 human genbank 54_36p -1 provisional silent c.870 p.K290 0.12 NULL "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors PGLYRP2 114770 hgsc.bcm.edu 36 19 15443817 15443817 + Silent SNP C C A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 15443817 15443817 C A SNP PGLYRP2 NM_052890 human genbank 54_36p -1 validated silent c.1227 p.V409 1 "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" - no_errors PIK3R2 5296 hgsc.bcm.edu 36 19 18133834 18133835 + Frame_Shift_Del DEL TT TT - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 TT TT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 18133834 18133835 TT - DEL PIK3R2 NM_005027 human genbank 54_36p 1 validated frame_shift_del c.874_875 p.L292fs 0.013:0.276 HMMSmart_SM00324 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" "(deletion:cds_exon[18133776,18133861])" no_errors PKN1 5585 hgsc.bcm.edu 36 19 14441799 14441799 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 14441799 14441799 G T SNP PKN1 NM_213560 human genbank 54_36p 1 reviewed missense c.2310 p.E770D 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PLAUR 5329 hgsc.bcm.edu 36 19 48851563 48851563 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 48851563 48851563 G A SNP PLAUR NM_002659 human genbank 54_36p -1 reviewed missense c.475 p.R159C 0 "superfamily_Snake toxin-like,HMMSmart_SM00134,PatternScan_LY6_UPAR" "superfamily_Snake toxin-like,HMMSmart_SM00134,PatternScan_LY6_UPAR,HMMPfam_UPAR_LY6" - no_errors PLD3 23646 hgsc.bcm.edu 36 19 45575839 45575839 + Silent SNP C C T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 45575839 45575839 C T SNP PLD3 NM_001031696 human genbank 54_36p 1 validated silent c.1392 p.F464 1 superfamily_SSF56024 "superfamily_SSF56024,HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope" - no_errors PLVAP 83483 hgsc.bcm.edu 36 19 17348777 17348777 + Silent SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 17348777 17348777 G A SNP PLVAP NM_031310 human genbank 54_36p -1 provisional silent c.321 p.R107 0.08 HMMPfam_PV-1 HMMPfam_PV-1 - no_errors PPP2R1A 5518 hgsc.bcm.edu 36 19 57408146 57408146 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 57408146 57408146 C T SNP PPP2R1A NM_014225 human genbank 54_36p 1 reviewed missense c.778 p.R260C 1 "superfamily_ARM repeat,HMMPfam_HEAT" "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors PRKCG 5582 hgsc.bcm.edu 36 19 59087648 59087648 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 59087648 59087648 G A SNP PRKCG NM_002739 human genbank 54_36p 1 reviewed missense c.760 p.D254N 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" ############################################################################################################################################################################################################################################################### - no_errors PRMT1 3276 hgsc.bcm.edu 36 19 54879103 54879103 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C T T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 54879103 54879103 C T SNP PRMT1 NM_001536 human genbank 54_36p 1 validated missense c.520 p.L174F 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors PRPF31 26121 hgsc.bcm.edu 36 19 59323308 59323308 + Frame_Shift_Del DEL C C - novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 59323308 59323308 C - DEL PRPF31 NM_015629 human genbank 54_36p 1 reviewed frame_shift_del c.994 p.Q332fs 1 HMMPfam_Nop "HMMPfam_NOSIC,superfamily_Nop domain,HMMPfam_Nop,HMMPfam_Prp31_C" "(deletion:cds_exon[59323260,59323387])" no_errors PRTN3 5657 hgsc.bcm.edu 36 19 798909 798909 + Silent SNP C C T novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 798909 798909 C T SNP PRTN3 NM_002777 human genbank 54_36p 1 validated silent c.711 p.A237 0.95 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors PSMC4 5704 hgsc.bcm.edu 36 19 45177589 45177589 + Silent SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 45177589 45177589 G A SNP PSMC4 NM_006503 human genbank 54_36p 1 reviewed silent c.699 p.S233 0.32 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors PTPRS 5802 hgsc.bcm.edu 36 19 5173817 5173817 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 5173817 5173817 T C SNP PTPRS NM_002850 human genbank 54_36p -1 reviewed missense c.2986 p.T996A 0.99 "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" ############################################################################################################################################################################################################################################################### - no_errors RAB3D 9545 hgsc.bcm.edu 36 19 11297141 11297141 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 11297141 11297141 C T SNP RAB3D NM_004283 human genbank 54_36p -1 provisional missense c.593 p.G198D 0.71 NULL "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" - no_errors RRAS 6237 hgsc.bcm.edu 36 19 54832155 54832155 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 54832155 54832155 G C SNP RRAS NM_006270 human genbank 54_36p -1 provisional nonsense c.198 p.Y66* 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors RTN2 6253 hgsc.bcm.edu 36 19 50683961 50683961 + Silent SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 50683961 50683961 G A SNP RTN2 NM_005619 human genbank 54_36p -1 reviewed silent c.1365 p.L455 0.98 HMMPfam_Reticulon HMMPfam_Reticulon - no_errors RYR1 6261 hgsc.bcm.edu 36 19 43651614 43651614 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 43651614 43651614 G T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.3550 p.G1184W 1 "HMMPfam_SPRY,HMMSmart_SM00449" "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR1 6261 hgsc.bcm.edu 36 19 43672661 43672661 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 43672661 43672661 C T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.5920 p.R1974W 0.98 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors SARS2 54938 hgsc.bcm.edu 36 19 44113066 44113066 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 44113066 44113066 C A SNP SARS2 NM_017827 human genbank 54_36p -1 reviewed missense c.151 p.G51C 1 NULL "superfamily_tRNA_binding_arm,HMMPfam_Seryl_tRNA_N,superfamily_SSF55681,HMMPfam_tRNA-synt_2b" - no_errors SGTA 6449 hgsc.bcm.edu 36 19 2713579 2713579 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 2713579 2713579 C G SNP SGTA NM_003021 human genbank 54_36p -1 reviewed missense c.561 p.E187D 1 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors SIGLEC11 114132 hgsc.bcm.edu 36 19 55145299 55145299 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 55145299 55145299 G A SNP SIGLEC11 NM_052884 human genbank 54_36p -1 validated nonsense c.1801 p.Q601* 0 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMPfam_I-set,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC" - no_errors SIGLEC11 114132 hgsc.bcm.edu 36 19 55153779 55153779 + Silent SNP T T G novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 55153779 55153779 T G SNP SIGLEC11 NM_052884 human genbank 54_36p -1 validated silent c.1260 p.G420 0 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIGLEC9 27180 hgsc.bcm.edu 36 19 56323492 56323493 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 56323492 56323493 - T INS SIGLEC9 NM_014441 human genbank 54_36p 1 provisional frame_shift_ins c.1116_1117 p.C372fs 0.386:0.057 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig" - no_errors SIN3B 23309 hgsc.bcm.edu 36 19 16813586 16813586 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 16813586 16813586 C T SNP SIN3B NM_015260 human genbank 54_36p 1 provisional missense c.389 p.S130L 0.01 NULL "superfamily_PAH2 domain,HMMPfam_PAH,HMMPfam_HDAC_interact,HMMSmart_SM00761" - no_errors SIN3B 23309 hgsc.bcm.edu 36 19 16834182 16834182 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 16834182 16834182 G T SNP SIN3B NM_015260 human genbank 54_36p 1 provisional missense c.1078 p.A360S 1 "HMMPfam_PAH,superfamily_PAH2 domain" "HMMPfam_PAH,superfamily_PAH2 domain,HMMPfam_HDAC_interact,HMMSmart_SM00761" - no_errors SLC17A7 57030 hgsc.bcm.edu 36 19 54627599 54627599 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 54627599 54627599 A - DEL SLC17A7 NM_020309 human genbank 54_36p -1 reviewed frame_shift_del c.1139 p.M380fs 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "(deletion:cds_exon[54627588,54627720])" no_errors SLC1A6 6511 hgsc.bcm.edu 36 19 14940174 14940174 + Silent SNP C C T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 14940174 14940174 C T SNP SLC1A6 NM_005071 human genbank 54_36p -1 provisional silent c.489 p.L163 0.96 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors SLC5A5 6528 hgsc.bcm.edu 36 19 17853859 17853859 + Silent SNP C C T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 17853859 17853859 C T SNP SLC5A5 NM_000453 human genbank 54_36p 1 validated silent c.1149 p.L383 0 NULL "PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors SLC7A10 56301 hgsc.bcm.edu 36 19 38394218 38394218 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 38394218 38394218 A G SNP SLC7A10 NM_019849 human genbank 54_36p -1 validated missense c.854 p.I285T 0.74 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors SMARCA4 6597 hgsc.bcm.edu 36 19 10974731 10974731 + Silent SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 10974731 10974731 C T SNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed silent c.1839 p.S613 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_BRK,HMMSmart_SM00592" ############################################################################################################################################################################################################################################################### - no_errors SPINT2 10653 hgsc.bcm.edu 36 19 43466240 43466240 + Silent SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 43466240 43466240 C T SNP SPINT2 NM_021102 human genbank 54_36p 1 validated silent c.240 p.T80 0.89 "superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" "superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors SYDE1 85360 hgsc.bcm.edu 36 19 15083225 15083225 + Silent SNP G G A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 15083225 15083225 G A SNP SYDE1 NM_033025 human genbank 54_36p 1 provisional silent c.1392 p.L464 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors SYT5 6861 hgsc.bcm.edu 36 19 60379269 60379270 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 60379269 60379270 - A INS SYT5 NM_003180 human genbank 54_36p -1 validated frame_shift_ins c.288_287 p.S97fs 0.150:0.389 NULL "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors TBC1D17 79735 hgsc.bcm.edu 36 19 55073581 55073582 + In_Frame_Ins INS - - CTG novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 55073581 55073582 - CTG INS TBC1D17 NM_024682 human genbank 54_36p 1 provisional in_frame_ins c.135_136 p.46in_frame_insL 0.346:0.883 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC" - no_errors TNPO2 30000 hgsc.bcm.edu 36 19 12686707 12686708 + Frame_Shift_Ins INS - - CGTTG novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 12686707 12686708 - CGTTG INS TNPO2 NM_013433 human genbank 54_36p -1 validated frame_shift_ins c.818_817 p.E273fs 1.000:1.000 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_HEAT" - no_errors TOMM40 10452 hgsc.bcm.edu 36 19 50089096 50089096 + Silent SNP G G C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 50089096 50089096 G C SNP TOMM40 NM_006114 human genbank 54_36p 1 validated silent c.576 p.G192 1 HMMPfam_Porin_3 HMMPfam_Porin_3 - no_errors TSHZ3 57616 hgsc.bcm.edu 36 19 36462022 36462022 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 36462022 36462022 C T SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated missense c.517 p.A173T 1 NULL "PatternScan_HOMEOBOX_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors TULP2 7288 hgsc.bcm.edu 36 19 54077126 54077126 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 54077126 54077126 G T SNP TULP2 NM_003323 human genbank 54_36p -1 reviewed missense c.1422 p.N474K 1 "superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1" "PatternScan_TUB_2,superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1" - no_errors TYK2 7297 hgsc.bcm.edu 36 19 10337311 10337311 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 10337311 10337311 A T SNP TYK2 NM_003331 human genbank 54_36p -1 reviewed missense c.893 p.V298E 0 NULL "PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors U2AF2 11338 hgsc.bcm.edu 36 19 60871699 60871699 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 60871699 60871699 G A SNP U2AF2 NM_007279 human genbank 54_36p 1 reviewed missense c.757 p.V253M 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors UBE2M 9040 hgsc.bcm.edu 36 19 63759885 63759885 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 63759885 63759885 C T SNP UBE2M NM_003969 human genbank 54_36p -1 reviewed missense c.328 p.V110I 1 "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con,PatternScan_UBIQUITIN_CONJUGAT_1" "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con,PatternScan_UBIQUITIN_CONJUGAT_1" - no_errors UQCR11 10975 hgsc.bcm.edu 36 19 1550447 1550447 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 1550447 1550447 C G SNP UQCR NM_006830 human genbank 54_36p -1 provisional missense c.163 p.D55H 0.99 HMMPfam_UCR_6-4kD "superfamily_Subunit XI (6.4 kDa protein) of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase),HMMPfam_UCR_6-4kD" - no_errors VAV1 7409 hgsc.bcm.edu 36 19 6779827 6779827 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 6779827 6779827 A G SNP VAV1 NM_005428 human genbank 54_36p 1 reviewed missense c.1181 p.D394G 1 superfamily_SSF50729 ############################################################################################################################################################################################################################################################### - no_errors VAV1 7409 hgsc.bcm.edu 36 19 6779900 6779900 + Silent SNP C C G novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 6779900 6779900 C G SNP VAV1 NM_005428 human genbank 54_36p 1 reviewed silent c.1254 p.S418 1 "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" ############################################################################################################################################################################################################################################################### - no_errors VAV1 7409 hgsc.bcm.edu 36 19 6783147 6783147 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 6783147 6783147 T C SNP VAV1 NM_005428 human genbank 54_36p 1 reviewed missense c.1444 p.Y482H 1 "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" ############################################################################################################################################################################################################################################################### - no_errors WDR88 126248 hgsc.bcm.edu 36 19 38320501 38320501 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 38320501 38320501 A T SNP WDR88 NM_173479 human genbank 54_36p 1 validated missense c.355 p.S119C 0.97 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,HMMSmart_SM00564,HMMPfam_PQQ,PatternScan_WD_REPEATS_1" - no_errors XRCC1 7515 hgsc.bcm.edu 36 19 48742969 48742969 + Silent SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 48742969 48742969 C T SNP XRCC1 NM_006297 human genbank 54_36p -1 reviewed silent c.1200 p.R400 1 superfamily_BRCT domain "HMMPfam_XRCC1_N,superfamily_Galactose-binding domain-like,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292" - no_errors YIPF2 78992 hgsc.bcm.edu 36 19 10895080 10895080 + Frame_Shift_Del DEL A A - novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 10895080 10895080 A - DEL YIPF2 NM_024029 human genbank 54_36p -1 provisional frame_shift_del c.838 p.Y280fs 0.93 NULL HMMPfam_Yip1 "(deletion:cds_exon[10894967,10895083])" no_errors ZFP112 7771 hgsc.bcm.edu 36 19 49523985 49523985 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 49523985 49523985 T C SNP ZFP112 NM_001083335 human genbank 54_36p -1 validated missense c.2183 p.K728R 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZIM2 23619 hgsc.bcm.edu 36 19 61985245 61985245 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 61985245 61985245 G T SNP ZIM2 NM_015363 human genbank 54_36p -1 provisional missense c.534 p.F178L 0.07 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF132 7691 hgsc.bcm.edu 36 19 63637215 63637215 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 63637215 63637215 G C SNP ZNF132 NM_003433 human genbank 54_36p -1 validated missense c.1408 p.Q470E 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF136 7695 hgsc.bcm.edu 36 19 12157714 12157714 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 12157714 12157714 C G SNP ZNF136 NM_003437 human genbank 54_36p 1 validated missense c.118 p.L40V 0 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF155 7711 hgsc.bcm.edu 36 19 49193296 49193296 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 49193296 49193296 C A SNP ZNF155 NM_003445 human genbank 54_36p 1 validated missense c.1447 p.P483T 0.6 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF180 7733 hgsc.bcm.edu 36 19 49693201 49693201 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 49693201 49693201 G A SNP ZNF180 NM_013256 human genbank 54_36p -1 validated missense c.107 p.P36L 0.01 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF211 10520 hgsc.bcm.edu 36 19 62844567 62844567 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 62844567 62844567 A C SNP ZNF211 NM_006385 human genbank 54_36p 1 validated missense c.940 p.I314L 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF211 10520 hgsc.bcm.edu 36 19 62844913 62844913 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 62844913 62844913 G A SNP ZNF211 NM_006385 human genbank 54_36p 1 validated missense c.1286 p.R429Q 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF222 7673 hgsc.bcm.edu 36 19 49228433 49228433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 49228433 49228433 C T SNP ZNF222 NM_013360 human genbank 54_36p 1 validated missense c.766 p.P256S 0.83 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF235 9310 hgsc.bcm.edu 36 19 49484668 49484668 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 49484668 49484668 G A SNP ZNF235 NM_004234 human genbank 54_36p -1 reviewed missense c.760 p.R254C 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF333 84449 hgsc.bcm.edu 36 19 14689502 14689502 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 14689502 14689502 G C SNP ZNF333 NM_032433 human genbank 54_36p 1 validated missense c.857 p.S286T 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF333 84449 hgsc.bcm.edu 36 19 14690061 14690061 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 19 14690061 14690061 A G SNP ZNF333 NM_032433 human genbank 54_36p 1 validated missense c.922 p.K308E 0.95 NULL "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF432 9668 hgsc.bcm.edu 36 19 57235607 57235607 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 57235607 57235607 G A SNP ZNF432 NM_014650 human genbank 54_36p -1 provisional nonsense c.184 p.R62* 0.4 "superfamily_Krueppel-associated_box,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF45 7596 hgsc.bcm.edu 36 19 49109815 49109815 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 49109815 49109815 C A SNP ZNF45 NM_003425 human genbank 54_36p -1 provisional missense c.1613 p.S538I 0.03 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF528 84436 hgsc.bcm.edu 36 19 57610440 57610440 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 57610440 57610440 C A SNP ZNF528 NM_032423 human genbank 54_36p 1 validated missense c.523 p.Q175K 0 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF536 9745 hgsc.bcm.edu 36 19 35717640 35717640 + Silent SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 35717640 35717640 G A SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional silent c.2217 p.A739 0.8 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF546 339327 hgsc.bcm.edu 36 19 45205058 45205058 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 45205058 45205058 C G SNP ZNF546 NM_178544 human genbank 54_36p 1 validated missense c.209 p.S70C 0.01 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF554 115196 hgsc.bcm.edu 36 19 2783405 2783405 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C - C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 2783405 2783405 C - DEL ZNF554 NM_001102651 human genbank 54_36p 1 validated frame_shift_del c.358 p.L120fs 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[2783301,2783492])" no_errors ZNF555 148254 hgsc.bcm.edu 36 19 2804696 2804696 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 2804696 2804696 T C SNP ZNF555 NM_152791 human genbank 54_36p 1 provisional missense c.1633 p.F545L 0.11 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_IG_MHC" - no_errors ZNF559 84527 hgsc.bcm.edu 36 19 9313608 9313608 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 9313608 9313608 C A SNP ZNF559 NM_032497 human genbank 54_36p 1 provisional missense c.481 p.H161N 0 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF563 147837 hgsc.bcm.edu 36 19 12290870 12290870 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 12290870 12290870 G C SNP ZNF563 NM_145276 human genbank 54_36p -1 validated missense c.969 p.S323R 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF571 51276 hgsc.bcm.edu 36 19 42747734 42747734 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 42747734 42747734 C T SNP ZNF571 NM_016536 human genbank 54_36p -1 validated missense c.1436 p.C479Y 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF582 147948 hgsc.bcm.edu 36 19 61587606 61587606 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 19 61587606 61587606 G C SNP ZNF582 NM_144690 human genbank 54_36p -1 provisional missense c.992 p.T331S 0.06 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF615 284370 hgsc.bcm.edu 36 19 57188024 57188024 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 57188024 57188024 C T SNP ZNF615 NM_198480 human genbank 54_36p -1 provisional missense c.2117 p.R706K 0.99 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF681 148213 hgsc.bcm.edu 36 19 23719582 23719583 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 CA CA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 23719582 23719583 CA - DEL ZNF681 NM_138286 human genbank 54_36p -1 validated frame_shift_del c.610_609 p.C203fs 1.000:1.000 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[23718254,23719965])" no_errors ZNF780B 163131 hgsc.bcm.edu 36 19 45233535 45233535 + Silent SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 45233535 45233535 A C SNP ZNF780B NM_001005851 human genbank 54_36p -1 provisional silent c.1071 p.G357 0.99 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF8 7554 hgsc.bcm.edu 36 19 63498700 63498700 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 19 63498700 63498700 A G SNP ZNF8 NM_021089 human genbank 54_36p 1 validated missense c.1714 p.R572G 0.83 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF823 55552 hgsc.bcm.edu 36 19 11694208 11694208 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 19 11694208 11694208 T C SNP ZNF823 NM_001080493 human genbank 54_36p -1 validated missense c.1141 p.T381A 0.01 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF85 7639 hgsc.bcm.edu 36 19 20923504 20923504 + Missense_Mutation SNP G G T rs56231962 Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 20923504 20923504 G T SNP ZNF85 NM_003429 human genbank 54_36p 1 validated missense c.344 p.R115I 0.04 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ZINC_PROTEASE" - no_errors ZNF99 7652 hgsc.bcm.edu 36 19 22734121 22734121 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 22734121 22734121 T C SNP ZNF99 NM_001080409 human genbank 54_36p -1 provisional missense c.493 p.I165V 0.25 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ADAM33 80332 hgsc.bcm.edu 36 20 3603433 3603433 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 3603433 3603433 A G SNP ADAM33 NM_025220 human genbank 54_36p -1 reviewed missense c.397 p.C133R 1 HMMPfam_Pep_M12B_propep ############################################################################################################################################################################################################################################################### - no_errors ANGPT4 51378 hgsc.bcm.edu 36 20 844772 844772 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 844772 844772 G A SNP ANGPT4 NM_015985 human genbank 54_36p -1 reviewed missense c.86 p.A29V 0.01 NULL "HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors ANKRD5 63926 hgsc.bcm.edu 36 20 9978141 9978141 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 9978141 9978141 A T SNP ANKRD5 NM_022096 human genbank 54_36p 1 validated missense c.924 p.R308S 0.2 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_EF-hand" - no_errors ARFGAP1 55738 hgsc.bcm.edu 36 20 61377916 61377916 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 61377916 61377916 C G SNP ARFGAP1 NM_175609 human genbank 54_36p 1 reviewed missense c.89 p.P30R 1 "superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105" "superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105" - no_errors ARFGEF2 10564 hgsc.bcm.edu 36 20 47038451 47038451 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 47038451 47038451 C G SNP ARFGEF2 NM_006420 human genbank 54_36p 1 reviewed missense c.2378 p.T793R 1 "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7" "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors ATP9A 10079 hgsc.bcm.edu 36 20 49689290 49689290 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 49689290 49689290 C T SNP ATP9A NM_006045 human genbank 54_36p -1 validated missense c.1667 p.R556Q 1 "superfamily_HAD-like,HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N" "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors BMP2 650 hgsc.bcm.edu 36 20 6706978 6706978 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 6706978 6706978 A C SNP BMP2 NM_001200 human genbank 54_36p 1 reviewed missense c.433 p.I145L 0.99 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors BPI 671 hgsc.bcm.edu 36 20 36369480 36369480 + Silent SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 36369480 36369480 G A SNP BPI NM_001725 human genbank 54_36p 1 reviewed silent c.240 p.G80 0 "superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP" "superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2" - no_errors BTBD3 22903 hgsc.bcm.edu 36 20 11851653 11851653 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 11851653 11851653 C A SNP BTBD3 NM_014962 human genbank 54_36p 1 validated missense c.908 p.A303E 0.04 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_PHR" - no_errors C20orf185 359710 hgsc.bcm.edu 36 20 31120364 31120364 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 31120364 31120364 T A SNP C20orf185 NM_182658 human genbank 54_36p 1 provisional missense c.1073 p.V358D 0.43 "superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" "PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" - no_errors C20orf186 149954 hgsc.bcm.edu 36 20 31134874 31134875 + Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 31134874 31134875 - C INS C20orf186 NM_182519 human genbank 54_36p 1 validated frame_shift_ins c.93_94 p.V34fs 0.080:0.074 NULL "HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" - no_errors C20orf43 51507 hgsc.bcm.edu 36 20 54521818 54521818 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 54521818 54521818 A G SNP C20orf43 NM_016407 human genbank 54_36p 1 validated missense c.518 p.N173S 1 HMMPfam_DUF602 HMMPfam_DUF602 - no_errors C20orf54 113278 hgsc.bcm.edu 36 20 692283 692283 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 692283 692283 T C SNP C20orf54 NM_033409 human genbank 54_36p -1 validated missense c.932 p.N311S 0.93 HMMPfam_DUF1011 HMMPfam_DUF1011 - no_errors C20orf70 140683 hgsc.bcm.edu 36 20 31224428 31224428 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 31224428 31224428 G C SNP C20orf70 NM_080574 human genbank 54_36p 1 validated missense c.187 p.G63R 0 "HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom" "HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom" - no_errors C20orf85 128602 hgsc.bcm.edu 36 20 56169159 56169159 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 56169159 56169159 G T SNP C20orf85 NM_178456 human genbank 54_36p 1 validated missense c.289 p.G97C 1 NULL NULL - no_errors CDH22 64405 hgsc.bcm.edu 36 20 44303188 44303188 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 44303188 44303188 C T SNP CDH22 NM_021248 human genbank 54_36p -1 reviewed missense c.371 p.R124H 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH26 60437 hgsc.bcm.edu 36 20 58021179 58021179 + Frame_Shift_Del DEL A A - novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 58021179 58021179 A - DEL CDH26 NM_177980 human genbank 54_36p 1 reviewed frame_shift_del c.2498 p.*833fs 0.01 NULL "superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" "(deletion:cds_exon[58020977,58021180])" no_errors CDH4 1002 hgsc.bcm.edu 36 20 59853165 59853165 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 59853165 59853165 C T SNP CDH4 NM_001794 human genbank 54_36p 1 reviewed missense c.623 p.T208M 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDK5RAP1 51654 hgsc.bcm.edu 36 20 31448341 31448341 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 31448341 31448341 G T SNP CDK5RAP1 NM_016408 human genbank 54_36p -1 reviewed missense c.191 p.T64N 0.92 NULL "HMMPfam_UPF0004,superfamily_Radical SAM enzymes,HMMSmart_SM00729,PatternScan_UPF0004,HMMPfam_Radical_SAM,HMMPfam_TRAM" - no_errors CEP250 11190 hgsc.bcm.edu 36 20 33513745 33513745 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 33513745 33513745 G A SNP CEP250 NM_007186 human genbank 54_36p 1 reviewed missense c.139 p.E47K 1 NULL superfamily_Prefoldin - no_errors CHD6 84181 hgsc.bcm.edu 36 20 39475435 39475435 + Silent SNP C C G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 39475435 39475435 C G SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed silent c.7074 p.L2358 0.73 NULL "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHD6 84181 hgsc.bcm.edu 36 20 39483980 39483980 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 39483980 39483980 T C SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed missense c.4709 p.Y1570C 1 NULL "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHD6 84181 hgsc.bcm.edu 36 20 39514845 39514845 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 39514845 39514845 C T SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed missense c.3272 p.R1091H 1 NULL "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHD6 84181 hgsc.bcm.edu 36 20 39518018 39518018 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 39518018 39518018 T C SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed missense c.2845 p.K949E 1 NULL "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHD6 84181 hgsc.bcm.edu 36 20 39545470 39545470 + Silent SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 39545470 39545470 C T SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed silent c.2361 p.L787 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors COX4I2 84701 hgsc.bcm.edu 36 20 29690491 29690491 + Silent SNP A A C novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 29690491 29690491 A C SNP COX4I2 NM_032609 human genbank 54_36p 1 reviewed silent c.10 p.R4 0.4 NULL "HMMPfam_COX4,superfamily_COX4" - no_errors CPNE1 8904 hgsc.bcm.edu 36 20 33678648 33678649 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 33678648 33678649 - A INS CPNE1 NM_003915 human genbank 54_36p -1 reviewed frame_shift_ins c.1204_1203 p.A401fs 1.000:0.999 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" "HMMSmart_C2,HMMPfam_C2,superfamily_C2_CaLB,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" - no_errors CST9 128822 hgsc.bcm.edu 36 20 23532223 23532223 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 23532223 23532223 C G SNP CST9 NM_001008693 human genbank 54_36p -1 reviewed missense c.404 p.S135T 0 superfamily_SSF54403 superfamily_SSF54403 - no_errors CTSA 5476 hgsc.bcm.edu 36 20 43956098 43956098 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 43956098 43956098 G C SNP CTSA NM_000308 human genbank 54_36p 1 reviewed missense c.811 p.D271H 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10" "superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10,PatternScan_CARBOXYPEPT_SER_SER,PatternScan_CARBOXYPEPT_SER_HIS" - no_errors DNMT3B 1789 hgsc.bcm.edu 36 20 30840389 30840389 + Silent SNP C C G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 30840389 30840389 C G SNP DNMT3B NM_006892 human genbank 54_36p 1 reviewed silent c.723 p.A241 1 "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293" "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1" - no_errors DNMT3B 1789 hgsc.bcm.edu 36 20 30846958 30846958 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 30846958 30846958 C G SNP DNMT3B NM_006892 human genbank 54_36p 1 reviewed missense c.1209 p.C403W 0.08 NULL "HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT" - no_errors EBF4 57593 hgsc.bcm.edu 36 20 2634893 2634893 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 2634893 2634893 G A SNP EBF4 XM_001713721 human genbank 54_36p 1 model missense c.385 p.D129N 1 NULL "PatternScan_COE,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors GSS 2937 hgsc.bcm.edu 36 20 32988441 32988441 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 32988441 32988441 C G SNP GSS NM_000178 human genbank 54_36p -1 reviewed missense c.655 p.D219H 1 "superfamily_SSF56059,HMMPfam_GSH_synth_ATP,HMMPfam_GSH_synthase,superfamily_PreATP-grasp-like" "superfamily_SSF56059,HMMPfam_GSH_synth_ATP,HMMPfam_GSH_synthase,superfamily_PreATP-grasp-like" - no_errors HAO1 54363 hgsc.bcm.edu 36 20 7814210 7814210 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 7814210 7814210 C T SNP HAO1 NM_017545 human genbank 54_36p -1 reviewed missense c.1000 p.E334K 0.99 "superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh" "superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1" - no_errors HAO1 54363 hgsc.bcm.edu 36 20 7863282 7863282 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 7863282 7863282 T A SNP HAO1 NM_017545 human genbank 54_36p -1 reviewed missense c.138 p.R46S 1 "HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases" "HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1,superfamily_FMN-linked oxidoreductases" - no_errors ID1 3397 hgsc.bcm.edu 36 20 29657150 29657150 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 29657150 29657150 A G SNP ID1 NM_002165 human genbank 54_36p 1 reviewed missense c.299 p.D100G 1 "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" - no_errors ITPA 3704 hgsc.bcm.edu 36 20 3142676 3142676 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 3142676 3142676 G T SNP ITPA NM_033453 human genbank 54_36p 1 reviewed missense c.235 p.A79S 1 "superfamily_SSF52972,HMMPfam_Ham1p_like" "superfamily_SSF52972,HMMPfam_Ham1p_like" - no_errors KCNQ2 3785 hgsc.bcm.edu 36 20 61541487 61541487 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 61541487 61541487 C T SNP KCNQ2 NM_172107 human genbank 54_36p -1 reviewed missense c.835 p.G279S 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors TTI1 9675 hgsc.bcm.edu 36 20 36075018 36075018 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 36075018 36075018 C G SNP KIAA0406 NM_014657 human genbank 54_36p -1 predicted missense c.615 p.L205F 1 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors L3MBTL1 26013 hgsc.bcm.edu 36 20 41602222 41602222 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 41602222 41602222 G A SNP L3MBTL NM_015478 human genbank 54_36p 1 reviewed missense c.1921 p.V641M 0.47 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_CCHHC domain,HMMPfam_zf-C2HC" - no_errors LBP 3929 hgsc.bcm.edu 36 20 36431116 36431116 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 36431116 36431116 C A SNP LBP NM_004139 human genbank 54_36p 1 reviewed missense c.1045 p.L349M 0.39 "HMMPfam_LBP_BPI_CETP_C,superfamily_Bactericidal permeability-increasing protein BPI,HMMSmart_SM00329" "superfamily_Bactericidal permeability-increasing protein BPI,PatternScan_LBP_BPI_CETP,HMMSmart_SM00328,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329" - no_errors MMP9 4318 hgsc.bcm.edu 36 20 44071077 44071077 + Silent SNP G G C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 44071077 44071077 G C SNP MMP9 NM_004994 human genbank 54_36p 1 reviewed silent c.105 p.L35 0.09 superfamily_PGBD-like ############################################################################################################################################################################################################################################################### - no_errors MOCS3 27304 hgsc.bcm.edu 36 20 49009312 49009312 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 49009312 49009312 G T SNP MOCS3 NM_014484 human genbank 54_36p 1 reviewed missense c.526 p.V176L 1 "superfamily_MoeB,HMMPfam_ThiF" "superfamily_MoeB,HMMPfam_ThiF,HMMPfam_MoeZ_MoeB,superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD" - no_errors MYBL2 4605 hgsc.bcm.edu 36 20 41777255 41777255 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 41777255 41777255 T C SNP MYBL2 NM_002466 human genbank 54_36p 1 reviewed missense c.1892 p.L631P 1 NULL "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMPfam_Cmyb_C" - no_errors MYH7B 57644 hgsc.bcm.edu 36 20 33032526 33032526 + Splice_Site SNP T T G novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 33032526 33032526 T G SNP MYH7B NM_020884 human genbank 54_36p 1 validated splice_site c.653+2 e7+2 1 - - - no_errors NCOA3 8202 hgsc.bcm.edu 36 20 45711204 45711205 + In_Frame_Ins INS - - CTG novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 45711204 45711205 - CTG INS NCOA3 NM_181659 human genbank 54_36p 1 reviewed in_frame_ins c.3595_3596 p.1201in_frame_insA 0.000:0.000 NULL ############################################################################################################################################################################################################################################################### - no_errors NFATC2 4773 hgsc.bcm.edu 36 20 49524079 49524079 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 49524079 49524079 A G SNP NFATC2 NM_173091 human genbank 54_36p -1 reviewed missense c.1553 p.I518T 1 "superfamily_p53-like transcription factors,HMMPfam_RHD" "superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors PHF20 51230 hgsc.bcm.edu 36 20 33920870 33920870 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 33920870 33920870 G A SNP PHF20 NM_016436 human genbank 54_36p 1 validated missense c.905 p.R302Q 1 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors PLCB1 23236 hgsc.bcm.edu 36 20 8646361 8646361 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 8646361 8646361 A G SNP PLCB1 NM_015192 human genbank 54_36p 1 reviewed missense c.1379 p.Y460C 1 "HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases" "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors PREX1 57580 hgsc.bcm.edu 36 20 46784490 46784490 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 46784490 46784490 C G SNP PREX1 NM_020820 human genbank 54_36p -1 reviewed missense c.519 p.L173F 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors PROKR2 128674 hgsc.bcm.edu 36 20 5242732 5242732 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 A A A G A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 5242732 5242732 A G SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.284 p.L95P 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PRPF6 24148 hgsc.bcm.edu 36 20 62112060 62112060 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 62112060 62112060 A T SNP PRPF6 NM_012469 human genbank 54_36p 1 reviewed missense c.1250 p.E417V 1 "superfamily_SSF48452,HMMSmart_HAT" "HMMPfam_PRP1_N,HMMSmart_HAT,superfamily_SSF48452,HMMPfam_TPR_1" - no_errors PTK6 5753 hgsc.bcm.edu 36 20 61632607 61632607 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 61632607 61632607 T C SNP PTK6 NM_005975 human genbank 54_36p -1 reviewed missense c.950 p.N317S 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors PTPRT 11122 hgsc.bcm.edu 36 20 40160575 40160575 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 40160575 40160575 G T SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.3803 p.T1268N 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPRT 11122 hgsc.bcm.edu 36 20 40223576 40223588 + Frame_Shift_Del DEL GCTCCCCGCGGCT GCTCCCCGCGGCT - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 GCTCCCCGCGGCT GCTCCCCGCGGCT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 40223576 40223588 GCTCCCCGCGGCT - DEL PTPRT NM_133170 human genbank 54_36p -1 reviewed frame_shift_del c.2569_2557 p.S853fs 0.998:1.000:1.000:1.000:0.960:0.973:0.974:0.872:0.994:1.000:1.000:1.000:1.000 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[40223406,40223596])" no_errors PTPRT 11122 hgsc.bcm.edu 36 20 40842323 40842323 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 40842323 40842323 G A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.517 p.H173Y 1 "HMMPfam_MAM,HMMSmart_SM00137" ############################################################################################################################################################################################################################################################### - no_errors RALY 22913 hgsc.bcm.edu 36 20 32125080 32125080 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 32125080 32125080 A T SNP RALY NM_016732 human genbank 54_36p 1 reviewed nonsense c.307 p.R103* 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors RBPJL 11317 hgsc.bcm.edu 36 20 43375525 43375525 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 43375525 43375525 G T SNP RBPJL NM_014276 human genbank 54_36p 1 reviewed missense c.623 p.C208F 1 "superfamily_Beta-trefoil,HMMPfam_Beta-trefoil" "superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind,superfamily_Beta-trefoil,HMMPfam_Beta-trefoil,superfamily_Ig_E-set,HMMPfam_TIG" - no_errors RP5-1022P6.2 56261 hgsc.bcm.edu 36 20 5504594 5504594 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 5504594 5504594 C T SNP RP5-1022P6.2 NM_019593 human genbank 54_36p -1 validated missense c.736 p.D246N 1 NULL "superfamily_CBD_4,HMMPfam_CBM_20,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD" - no_errors SALL4 57167 hgsc.bcm.edu 36 20 49840295 49840295 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 49840295 49840295 G A SNP SALL4 NM_020436 human genbank 54_36p -1 reviewed missense c.2134 p.L712F 0 NULL "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors SALL4 57167 hgsc.bcm.edu 36 20 49841710 49841710 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 49841710 49841710 T - DEL SALL4 NM_020436 human genbank 54_36p -1 reviewed frame_shift_del c.719 p.N240fs 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "(deletion:cds_exon[49839968,49842298])" no_errors SIRPD 128646 hgsc.bcm.edu 36 20 1480452 1480452 + Silent SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 1480452 1480452 G T SNP SIRPD NM_178460 human genbank 54_36p -1 provisional silent c.306 p.T102 0.43 "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" - no_errors SIRPD 128646 hgsc.bcm.edu 36 20 1480543 1480543 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 1480543 1480543 C T SNP SIRPD NM_178460 human genbank 54_36p -1 provisional missense c.215 p.R72Q 0 "HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726" - no_errors SLC12A5 57468 hgsc.bcm.edu 36 20 44107056 44107056 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 44107056 44107056 C T SNP SLC12A5 NM_020708 human genbank 54_36p 1 reviewed missense c.1439 p.A480V 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors SLC12A5 57468 hgsc.bcm.edu 36 20 44108387 44108387 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 44108387 44108387 C G SNP SLC12A5 NM_020708 human genbank 54_36p 1 reviewed missense c.1692 p.F564L 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors SLC23A2 9962 hgsc.bcm.edu 36 20 4785800 4785800 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 4785800 4785800 C G SNP SLC23A2 NM_005116 human genbank 54_36p -1 reviewed missense c.1771 p.G591R 1 NULL "HMMPfam_Xan_ur_permease,PatternScan_XANTH_URACIL_PERMASE" - no_errors SLC24A3 57419 hgsc.bcm.edu 36 20 19209705 19209705 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 19209705 19209705 G A SNP SLC24A3 NM_020689 human genbank 54_36p 1 validated missense c.245 p.R82Q 0 NULL HMMPfam_Na_Ca_ex - no_errors SLC9A8 23315 hgsc.bcm.edu 36 20 47865032 47865032 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 47865032 47865032 C T SNP SLC9A8 NM_015266 human genbank 54_36p 1 validated missense c.107 p.P36L 1 NULL HMMPfam_Na_H_Exchanger - no_errors SLCO4A1 28231 hgsc.bcm.edu 36 20 60769848 60769848 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 60769848 60769848 T A SNP SLCO4A1 NM_016354 human genbank 54_36p 1 validated missense c.1678 p.S560T 0.97 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SNPH 9751 hgsc.bcm.edu 36 20 1225867 1225867 + Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 20 1225867 1225867 C G SNP SNPH NM_014723 human genbank 54_36p 1 reviewed nonsense c.129 p.Y43* 1 NULL NULL - no_errors SNPH 9751 hgsc.bcm.edu 36 20 1233810 1233810 + Silent SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 1233810 1233810 G A SNP SNPH NM_014723 human genbank 54_36p 1 reviewed silent c.597 p.E199 0.43 NULL NULL - no_errors SNRPB 6628 hgsc.bcm.edu 36 20 2394385 2394385 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 2394385 2394385 G A SNP SNRPB NM_198216 human genbank 54_36p -1 reviewed missense c.236 p.S79L 1 "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors SPINT4 391253 hgsc.bcm.edu 36 20 43784521 43784521 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 43784521 43784521 G A SNP SPINT4 NM_178455 human genbank 54_36p 1 provisional missense c.101 p.C34Y 0.01 NULL "PatternScan_BPTI_KUNITZ_1,superfamily_Prot_inh_Kunz-m,HMMSmart_KU,HMMPfam_Kunitz_BPTI" - no_errors SRC 6714 hgsc.bcm.edu 36 20 35464354 35464354 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 35464354 35464354 G C SNP SRC NM_005417 human genbank 54_36p 1 reviewed missense c.1219 p.D407H 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors SULF2 55959 hgsc.bcm.edu 36 20 45727427 45727427 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 45727427 45727427 G C SNP SULF2 NM_018837 human genbank 54_36p -1 validated missense c.1920 p.N640K 1 superfamily_Alkaline phosphatase-like "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1" - no_errors SULF2 55959 hgsc.bcm.edu 36 20 45798860 45798860 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 20 45798860 45798860 G A SNP SULF2 NM_018837 human genbank 54_36p -1 validated missense c.409 p.R137W 1 "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like" "HMMPfam_Sulfatase,PatternScan_SULFATASE_1,superfamily_Alkaline phosphatase-like" - no_errors TSHZ2 128553 hgsc.bcm.edu 36 20 51306452 51306452 + Silent SNP G G A novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 51306452 51306452 G A SNP TSHZ2 NM_173485 human genbank 54_36p 1 validated silent c.3048 p.T1016 1 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX,HMMPfam_Homeobox,HMMPfam_zf-C2H2" - no_errors XRN2 22803 hgsc.bcm.edu 36 20 21284789 21284789 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 20 21284789 21284789 G T SNP XRN2 NM_012255 human genbank 54_36p 1 reviewed nonsense c.2092 p.E698* 1 NULL HMMPfam_XRN_N - no_errors YTHDF1 54915 hgsc.bcm.edu 36 20 61304644 61304644 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 20 61304644 61304644 G A SNP YTHDF1 NM_017798 human genbank 54_36p -1 validated missense c.1093 p.H365Y 1 NULL HMMPfam_YTH - no_errors ZFP64 55734 hgsc.bcm.edu 36 20 50202719 50202719 + Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 50202719 50202719 C - DEL ZFP64 NM_018197 human genbank 54_36p -1 validated frame_shift_del c.1419 p.L475fs 0.41 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[50202092,50203374])" no_errors ABCG1 9619 hgsc.bcm.edu 36 21 42581464 42581464 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 21 42581464 42581464 G T SNP ABCG1 NM_004915 human genbank 54_36p 1 reviewed missense c.1233 p.R411S 1 HMMPfam_ABC2_membrane "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors ADAMTS5 11096 hgsc.bcm.edu 36 21 27227082 27227082 + Silent SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 27227082 27227082 G A SNP ADAMTS5 NM_007038 human genbank 54_36p -1 reviewed silent c.1842 p.R614 0.95 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors BACE2 25825 hgsc.bcm.edu 36 21 41544648 41544648 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 41544648 41544648 C G SNP BACE2 NM_012105 human genbank 54_36p 1 reviewed missense c.1084 p.L362V 1 "superfamily_Acid proteases,HMMPfam_Asp" "superfamily_Acid proteases,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors BACH1 571 hgsc.bcm.edu 36 21 29636933 29636933 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 29636933 29636933 G T SNP BACH1 NM_001186 human genbank 54_36p 1 reviewed nonsense c.2119 p.E707* 0.23 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors GCFC1 94104 hgsc.bcm.edu 36 21 33056492 33056492 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 33056492 33056492 A C SNP C21orf66 NM_016631 human genbank 54_36p -1 reviewed missense c.657 p.I219M 1 NULL HMMPfam_GCFC - no_errors C2CD2 25966 hgsc.bcm.edu 36 21 42200301 42200301 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 42200301 42200301 G - DEL C2CD2 NM_015500 human genbank 54_36p -1 validated frame_shift_del c.1187 p.P396fs 1 NULL "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "(deletion:cds_exon[42200170,42200344])" no_errors DONSON 29980 hgsc.bcm.edu 36 21 33876164 33876164 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 33876164 33876164 C A SNP DONSON NM_017613 human genbank 54_36p -1 reviewed missense c.1114 p.D372Y 1 NULL NULL - no_errors DOPEY2 9980 hgsc.bcm.edu 36 21 36531450 36531450 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 36531450 36531450 G C SNP DOPEY2 NM_005128 human genbank 54_36p 1 validated missense c.2643 p.W881C 1 NULL HMMPfam_Dopey_N - no_errors DSCAM 1826 hgsc.bcm.edu 36 21 40569949 40569949 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 40569949 40569949 C G SNP DSCAM NM_001389 human genbank 54_36p -1 validated missense c.2301 p.K767N 1 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors DYRK1A 1859 hgsc.bcm.edu 36 21 37784529 37784529 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 37784529 37784529 A G SNP DYRK1A NM_001396 human genbank 54_36p 1 reviewed missense c.847 p.I283V 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GART 2618 hgsc.bcm.edu 36 21 33803992 33803992 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 33803992 33803992 T - DEL GART NM_000819 human genbank 54_36p -1 reviewed frame_shift_del c.2420 p.K807fs 0.72 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[33803960,33804097])" no_errors GART 2618 hgsc.bcm.edu 36 21 33803992 33803992 + Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 21 33803992 33803992 T - DEL GART NM_000819 human genbank 54_36p -1 reviewed frame_shift_del c.2420 p.K807fs 0.72 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[33803960,33804097])" no_errors GART 2618 hgsc.bcm.edu 36 21 33815163 33815163 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 33815163 33815163 C G SNP GART NM_000819 human genbank 54_36p -1 reviewed missense c.1423 p.G475R 1 "HMMPfam_AIRS,superfamily_PurM N-terminal domain-like" ############################################################################################################################################################################################################################################################### - no_errors ITSN1 6453 hgsc.bcm.edu 36 21 34176536 34176536 + Silent SNP C C G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 21 34176536 34176536 C G SNP ITSN1 NM_003024 human genbank 54_36p 1 reviewed silent c.4461 p.L1487 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" ############################################################################################################################################################################################################################################################### - no_errors KCNJ15 3772 hgsc.bcm.edu 36 21 38594008 38594008 + Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 38594008 38594008 A T SNP KCNJ15 NM_002243 human genbank 54_36p 1 reviewed nonsense c.955 p.K319* 1 "HMMPfam_IRK,superfamily_Ig_E-set" "superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set" - no_errors KCNJ15 3772 hgsc.bcm.edu 36 21 38594117 38594117 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 38594117 38594117 A T SNP KCNJ15 NM_002243 human genbank 54_36p 1 reviewed missense c.1064 p.Y355F 1 "HMMPfam_IRK,superfamily_Ig_E-set" "HMMPfam_IRK,superfamily_Ig_E-set,superfamily_SSF81324" - no_errors KRTAP19-4 337971 hgsc.bcm.edu 36 21 30791141 30791141 + Silent SNP G G A novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 21 30791141 30791141 G A SNP KRTAP19-4 NM_181610 human genbank 54_36p -1 provisional silent c.159 p.C53 0 NULL NULL - no_errors KRTAP19-4 337971 hgsc.bcm.edu 36 21 30791269 30791269 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 30791269 30791269 G T SNP KRTAP19-4 NM_181610 human genbank 54_36p -1 provisional missense c.31 p.L11M 0.98 NULL NULL - no_errors KRTAP27-1 643812 hgsc.bcm.edu 36 21 30631311 30631311 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 30631311 30631311 G A SNP KRTAP27-1 NM_001077711 human genbank 54_36p -1 provisional missense c.547 p.P183S 0 HMMPfam_PMG HMMPfam_PMG - no_errors MCM3AP 8888 hgsc.bcm.edu 36 21 46479757 46479757 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 21 46479757 46479757 C T SNP MCM3AP NM_003906 human genbank 54_36p -1 reviewed missense c.5796 p.M1932I 0 NULL "superfamily_SSF54928,HMMPfam_SAC3_GANP" - no_errors MCM3AP 8888 hgsc.bcm.edu 36 21 46487228 46487228 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 46487228 46487228 T C SNP MCM3AP NM_003906 human genbank 54_36p -1 reviewed missense c.5342 p.N1781S 0.92 NULL "HMMPfam_SAC3_GANP,superfamily_SSF54928" - no_errors MCM3AP 8888 hgsc.bcm.edu 36 21 46487232 46487233 + Frame_Shift_Ins INS - - GG novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 46487232 46487233 - GG INS MCM3AP NM_003906 human genbank 54_36p -1 reviewed frame_shift_ins c.5338_5337 p.K1779fs 1.000:1.000 NULL "HMMPfam_SAC3_GANP,superfamily_SSF54928" - no_errors MORC3 23515 hgsc.bcm.edu 36 21 36666647 36666647 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 36666647 36666647 G A SNP MORC3 NM_015358 human genbank 54_36p 1 reviewed missense c.2614 p.V872I 1 NULL "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMPfam_zf-CW" - no_errors PRMT2 3275 hgsc.bcm.edu 36 21 46888723 46888723 + Silent SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 46888723 46888723 C T SNP PRMT2 NM_001535 human genbank 54_36p 1 validated silent c.222 p.G74 0.97 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_MTS" - no_errors TMPRSS15 5651 hgsc.bcm.edu 36 21 18620749 18620749 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 21 18620749 18620749 C A SNP PRSS7 NM_002772 human genbank 54_36p -1 reviewed missense c.1792 p.G598W 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" ############################################################################################################################################################################################################################################################### - no_errors TMPRSS15 5651 hgsc.bcm.edu 36 21 18623405 18623405 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 21 18623405 18623405 C T SNP PRSS7 NM_002772 human genbank 54_36p -1 reviewed missense c.1732 p.D578N 0.97 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" ############################################################################################################################################################################################################################################################### - no_errors LTN1 26046 hgsc.bcm.edu 36 21 29261077 29261077 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 29261077 29261077 T - DEL RNF160 NM_015565 human genbank 54_36p -1 validated frame_shift_del c.1607 p.N536fs 0 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4" "(deletion:cds_exon[29260563,29261372])" no_errors SAMSN1 64092 hgsc.bcm.edu 36 21 14811202 14811202 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 21 14811202 14811202 C T SNP SAMSN1 NM_022136 human genbank 54_36p -1 validated missense c.161 p.G54E 0.98 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors SETD4 54093 hgsc.bcm.edu 36 21 36342503 36342503 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 21 36342503 36342503 C T SNP SETD4 NM_017438 human genbank 54_36p -1 validated missense c.269 p.R90Q 0.64 "HMMPfam_SET,superfamily_SET domain" "HMMPfam_SET,superfamily_SET domain,HMMPfam_Rubis-subs-bind" - no_errors TIAM1 7074 hgsc.bcm.edu 36 21 31539714 31539714 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 21 31539714 31539714 G C SNP TIAM1 NM_003253 human genbank 54_36p -1 validated missense c.1545 p.F515L 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_RBD,HMMSmart_RBD,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1" - no_errors TMPRSS2 7113 hgsc.bcm.edu 36 21 41762266 41762266 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 41762266 41762266 T A SNP TMPRSS2 NM_005656 human genbank 54_36p -1 reviewed missense c.1241 p.Y414F 0 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TMPRSS3 64699 hgsc.bcm.edu 36 21 42676377 42676377 + Splice_Site SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 42676377 42676377 C A SNP TMPRSS3 NM_024022 human genbank 54_36p -1 reviewed splice_site c.617-1 e7-1 1 - - - no_errors TMPRSS3 64699 hgsc.bcm.edu 36 21 42676377 42676377 + Splice_Site SNP C C A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 21 42676377 42676377 C A SNP TMPRSS3 NM_024022 human genbank 54_36p -1 reviewed splice_site c.617-1 e7-1 1 - - - no_errors TTC3 7267 hgsc.bcm.edu 36 21 37420263 37420263 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 21 37420263 37420263 C T SNP TTC3 NM_001001894 human genbank 54_36p 1 validated missense c.1247 p.A416V 0 "superfamily_SSF48452,superfamily_Spectrin" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,superfamily_Spectrin,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors TTC3 7267 hgsc.bcm.edu 36 21 37446113 37446113 + Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 21 37446113 37446113 A - DEL TTC3 NM_001001894 human genbank 54_36p 1 validated frame_shift_del c.2327 p.E779fs 1 "superfamily_Spectrin,superfamily_SSF48452" "HMMPfam_TPR_1,HMMSmart_RING,HMMPfam_zf-C3HC4,HMMSmart_TPR,superfamily_Spectrin,superfamily_SSF48452,superfamily_SSF57850" "(deletion:cds_exon[37446063,37446199])" no_errors ZNF295 49854 hgsc.bcm.edu 36 21 42284620 42284620 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 42284620 42284620 T G SNP ZNF295 NM_001098402 human genbank 54_36p -1 validated missense c.2654 p.E885A 0.97 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF295 49854 hgsc.bcm.edu 36 21 42284620 42284620 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 21 42284620 42284620 T G SNP ZNF295 NM_001098402 human genbank 54_36p -1 validated missense c.2654 p.E885A 0.97 NULL "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ADRBK2 157 hgsc.bcm.edu 36 22 24448326 24448326 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 22 24448326 24448326 G C SNP ADRBK2 NM_005160 human genbank 54_36p 1 reviewed missense c.1976 p.R659P 0.98 superfamily_SSF50729 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors AIFM3 150209 hgsc.bcm.edu 36 22 19660811 19660811 + Silent SNP G G T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 19660811 19660811 G T SNP AIFM3 NM_144704 human genbank 54_36p 1 provisional silent c.1014 p.V338 1 "HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_Rieske,superfamily_ISP domain,superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain" - no_errors AP1B1 162 hgsc.bcm.edu 36 22 28067638 28067638 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 22 28067638 28067638 C T SNP AP1B1 NM_001127 human genbank 54_36p -1 reviewed missense c.1648 p.E550K 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C" - no_errors APOBEC3H 164668 hgsc.bcm.edu 36 22 37827334 37827334 + Silent SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 37827334 37827334 C T SNP APOBEC3H NM_181773 human genbank 54_36p 1 validated silent c.297 p.H99 0 "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like" "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like,PatternScan_CYT_DCMP_DEAMINASES,HMMPfam_APOBEC_C" - no_errors APOL3 80833 hgsc.bcm.edu 36 22 34886755 34886755 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 34886755 34886755 G T SNP APOL3 NM_145640 human genbank 54_36p -1 reviewed missense c.131 p.S44Y 0 NULL HMMPfam_ApoL - no_errors BCR 613 hgsc.bcm.edu 36 22 21964794 21964794 + Missense_Mutation SNP A A T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 21964794 21964794 A T SNP BCR NM_004327 human genbank 54_36p 1 reviewed missense c.2849 p.Y950F 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" ############################################################################################################################################################################################################################################################### - no_errors BPIL2 254240 hgsc.bcm.edu 36 22 31145387 31145387 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 31145387 31145387 G A SNP BPIL2 NM_174932 human genbank 54_36p -1 provisional missense c.1222 p.R408C 1 "HMMPfam_LBP_BPI_CETP_C,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2" "superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2" - no_errors C22orf32 91689 hgsc.bcm.edu 36 22 40805873 40805873 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 40805873 40805873 G A SNP C22orf32 NM_033318 human genbank 54_36p 1 predicted missense c.155 p.R52H 1 HMMPfam_DDDD HMMPfam_DDDD - no_errors CABIN1 23523 hgsc.bcm.edu 36 22 22813449 22813449 + Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 22813449 22813449 T - DEL CABIN1 NM_012295 human genbank 54_36p 1 reviewed frame_shift_del c.3308 p.Q1104fs 1 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,HMMPfam_MEF2_binding" "(deletion:cds_exon[22813405,22813666])" no_errors CABIN1 23523 hgsc.bcm.edu 36 22 22813449 22813449 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 22813449 22813449 T A SNP CABIN1 NM_012295 human genbank 54_36p 1 reviewed missense c.3308 p.I1103N 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMPfam_MEF2_binding,HMMSmart_TPR,superfamily_SSF48452" - no_errors CPT1B 1375 hgsc.bcm.edu 36 22 49359711 49359711 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 49359711 49359711 T - DEL CPT1B NM_004377 human genbank 54_36p -1 reviewed frame_shift_del c.889 p.M297fs 1 "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf" "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2" "(deletion:cds_exon[49359630,49359714])" no_errors CSF2RB 1439 hgsc.bcm.edu 36 22 35652027 35652027 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 35652027 35652027 G T SNP CSF2RB NM_000395 human genbank 54_36p 1 reviewed missense c.253 p.A85S 0 superfamily_Fibronectin type III "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1" - no_errors ELFN2 114794 hgsc.bcm.edu 36 22 36100588 36100588 + Silent SNP C C A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 36100588 36100588 C A SNP ELFN2 NM_052906 human genbank 54_36p -1 validated silent c.933 p.L311 1 HMMSmart_FN3 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMSmart_FN3" - no_errors EWSR1 2130 hgsc.bcm.edu 36 22 28013064 28013064 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 28013064 28013064 G T SNP EWSR1 NM_005243 human genbank 54_36p 1 reviewed missense c.734 p.G245V 1 NULL "HMMPfam_SVS_QK,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors FBLN1 2192 hgsc.bcm.edu 36 22 44316768 44316782 + In_Frame_Del DEL GTTTCCGCTGCGAAT GTTTCCGCTGCGAAT - novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 GTTTCCGCTGCGAAT GTTTCCGCTGCGAAT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 44316768 44316782 GTTTCCGCTGCGAAT - DEL FBLN1 NM_006486 human genbank 54_36p 1 reviewed in_frame_del c.1136_1150 p.FRCEC380in_frame_del 0.477:0.479:0.995:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.870:1.000:1.000:0.987:1.000 "PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL" "HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL" "(deletion:cds_exon[44316699,44316827])" no_errors GTPBP1 9567 hgsc.bcm.edu 36 22 37442787 37442787 + Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 37442787 37442787 G C SNP GTPBP1 NM_004286 human genbank 54_36p 1 reviewed missense c.670 p.V224L 1 "superfamily_SSF52540,HMMPfam_GTP_EFTU" "superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_Elong_init_C,HMMPfam_GTP_EFTU_D3" - no_errors HIRA 7290 hgsc.bcm.edu 36 22 17753104 17753104 + Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 17753104 17753104 C G SNP HIRA NM_003325 human genbank 54_36p -1 reviewed missense c.1269 p.M423I 0.02 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_HIRA_B,HMMPfam_Hira" - no_errors JOSD1 9929 hgsc.bcm.edu 36 22 37425923 37425923 + Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 37425923 37425923 A - DEL JOSD1 NM_014876 human genbank 54_36p -1 validated frame_shift_del c.16 p.W6fs 1 NULL HMMPfam_Josephin "(deletion:cds_exon[37425754,37425938])" no_errors LDOC1L 84247 hgsc.bcm.edu 36 22 43271543 43271543 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 43271543 43271543 G - DEL LDOC1L NM_032287 human genbank 54_36p -1 validated frame_shift_del c.558 p.A187fs 0.71 NULL NULL "(deletion:cds_exon[43271381,43272100])" no_errors MAPK1 5594 hgsc.bcm.edu 36 22 20490202 20490202 + Silent SNP A A T novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 20490202 20490202 A T SNP MAPK1 NM_002745 human genbank 54_36p -1 reviewed silent c.429 p.A143 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST" - no_errors MKL1 57591 hgsc.bcm.edu 36 22 39146900 39146900 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C C - C C Unknown Valid Somatic Phase_IV Capture SOLID SOLID 22 39146900 39146900 C - DEL MKL1 NM_020831 human genbank 54_36p -1 validated frame_shift_del c.778 p.A260fs 1 NULL "HMMSmart_RPEL,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" "(deletion:cds_exon[39146797,39147050])" no_errors MORC2 22880 hgsc.bcm.edu 36 22 29660113 29660113 + Silent SNP C C T novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 29660113 29660113 C T SNP MORC2 NM_014941 human genbank 54_36p -1 provisional silent c.2073 p.E691 0.85 NULL "superfamily_ATP_bd_ATPase,HMMPfam_zf-CW" - no_errors MTMR3 8897 hgsc.bcm.edu 36 22 28746336 28746338 + In_Frame_Del DEL GTC GTC - novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 GTC GTC . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 28746336 28746338 GTC - DEL MTMR3 NM_021090 human genbank 54_36p 1 reviewed in_frame_del c.2688_2690 p.S897in_frame_del 0.000:0.000:0.036 NULL "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" "(deletion:cds_exon[28745469,28746873])" no_errors MTMR3 8897 hgsc.bcm.edu 36 22 28746522 28746522 + Silent SNP C C T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 28746522 28746522 C T SNP MTMR3 NM_021090 human genbank 54_36p 1 reviewed silent c.2874 p.C958 0.06 NULL "HMMPfam_FYVE,HMMSmart_SM00064,HMMSmart_SM00404,HMMPfam_Myotub-related,superfamily_FYVE/PHD zinc finger,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors MYH9 4627 hgsc.bcm.edu 36 22 35042574 35042574 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 22 35042574 35042574 G T SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed missense c.1314 p.D438E 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS" - no_errors MYO18B 84700 hgsc.bcm.edu 36 22 24494303 24494303 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 22 24494303 24494303 G C SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.420 p.K140N 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors NCF4 4689 hgsc.bcm.edu 36 22 35593412 35593412 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 35593412 35593412 G A SNP NCF4 NM_013416 human genbank 54_36p 1 validated missense c.304 p.A102T 0.98 "superfamily_PX,HMMPfam_PX,HMMSmart_PX" "superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors NEFH 4744 hgsc.bcm.edu 36 22 28215437 28215438 + Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 28215437 28215438 - G INS NEFH NM_021076 human genbank 54_36p 1 reviewed frame_shift_ins c.1808_1809 p.A604fs 0.835:0.850 HMMPfam_DUF1388 "HMMPfam_Filament,PatternScan_IF,HMMPfam_DUF1388" - no_errors PKDREJ 10343 hgsc.bcm.edu 36 22 45032793 45032793 + Silent SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 45032793 45032793 G A SNP PKDREJ NM_006071 human genbank 54_36p -1 reviewed silent c.5091 p.F1697 0.02 NULL "HMMPfam_REJ,HMMSmart_SM00303,HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PLXNB2 23654 hgsc.bcm.edu 36 22 49063285 49063285 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 49063285 49063285 G C SNP PLXNB2 NM_012401 human genbank 54_36p -1 validated missense c.2969 p.P990R 0.52 "superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors PNPLA5 150379 hgsc.bcm.edu 36 22 42617026 42617027 + Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 42617026 42617027 - G INS PNPLA5 NM_138814 human genbank 54_36p -1 provisional frame_shift_ins c.478_477 p.E159fs 0.091:0.104 "superfamily_FabD/lysophospholipase-like,HMMPfam_Patatin" "superfamily_FabD/lysophospholipase-like,HMMPfam_Patatin" - no_errors PPIL2 23759 hgsc.bcm.edu 36 22 20366752 20366752 + Silent SNP C C T novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 20366752 20366752 C T SNP PPIL2 NM_148176 human genbank 54_36p 1 reviewed silent c.414 p.A138 1 NULL "superfamily_SSF57850,HMMSmart_Ubox,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors RP1-199H16.1 646851 hgsc.bcm.edu 36 22 37325838 37325838 + Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 37325838 37325838 G - DEL LOC646851 XM_929809 human genbank 54_36p -1 model frame_shift_del c.1313 p.S438fs 0 NULL NULL "(deletion:cds_exon[37325692,37325872])" no_errors SCUBE1 80274 hgsc.bcm.edu 36 22 41934105 41934105 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 41934105 41934105 C T SNP SCUBE1 NM_173050 human genbank 54_36p -1 validated missense c.2651 p.R884H 1 "superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB" "PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF,HMMSmart_EGF,superfamily_Grow_fac_recept,HMMPfam_GCC2_GCC3,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB" - no_errors SEC14L3 266629 hgsc.bcm.edu 36 22 29190822 29190822 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 29190822 29190822 T A SNP SEC14L3 NM_174975 human genbank 54_36p -1 reviewed missense c.649 p.I217F 1 "HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO" "superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO,superfamily_SSF101576" - no_errors SFI1 9814 hgsc.bcm.edu 36 22 30343014 30343014 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 30343014 30343014 G T SNP SFI1 NM_001007467 human genbank 54_36p 1 validated missense c.3462 p.E1154D 1 NULL NULL - no_errors SLC2A11 66035 hgsc.bcm.edu 36 22 22547312 22547312 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 22547312 22547312 C A SNP SLC2A11 NM_030807 human genbank 54_36p 1 validated missense c.311 p.S104Y 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2" - no_errors SLC5A1 6523 hgsc.bcm.edu 36 22 30825226 30825226 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 30825226 30825226 C G SNP SLC5A1 NM_000343 human genbank 54_36p 1 validated nonsense c.1337 p.S446* 1 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2" - no_errors SMARCB1 6598 hgsc.bcm.edu 36 22 22505823 22505823 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 22505823 22505823 C T SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed missense c.1051 p.P351S 1 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors SMARCB1 6598 hgsc.bcm.edu 36 22 22505875 22505875 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 22 22505875 22505875 A G SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed missense c.1103 p.Q368R 1 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors SMARCB1 6598 hgsc.bcm.edu 36 22 22505888 22505888 + Silent SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 22505888 22505888 G A SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed silent c.1116 p.T372 0.98 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors SMC1B 27127 hgsc.bcm.edu 36 22 44126997 44126997 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 22 44126997 44126997 G C SNP SMC1B NM_148674 human genbank 54_36p -1 validated missense c.3423 p.H1141Q 1 "superfamily_SSF52540,HMMPfam_SMC_N" "superfamily_SSF52540,HMMPfam_SMC_N,superfamily_SMC_hinge,HMMPfam_SMC_hinge" - no_errors SMC1B 27127 hgsc.bcm.edu 36 22 44176884 44176884 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 44176884 44176884 C G SNP SMC1B NM_148674 human genbank 54_36p -1 validated missense c.847 p.E283Q 1 "HMMPfam_SMC_N,superfamily_SSF52540" "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540" - no_errors SMTN 6525 hgsc.bcm.edu 36 22 29817798 29817799 + Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 29817798 29817799 - C INS SMTN NM_134270 human genbank 54_36p 1 reviewed frame_shift_ins c.1597_1598 p.S536fs 1.000:0.998 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors SREBF2 6721 hgsc.bcm.edu 36 22 40599771 40599771 + Silent SNP C C G novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 40599771 40599771 C G SNP SREBF2 NM_004599 human genbank 54_36p 1 reviewed silent c.891 p.T297 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors TBC1D22A 25771 hgsc.bcm.edu 36 22 45811697 45811697 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 45811697 45811697 A C SNP TBC1D22A NM_014346 human genbank 54_36p 1 provisional missense c.1268 p.N423T 1 "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" "PatternScan_AA_TRNA_LIGASE_I,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors TBX1 6899 hgsc.bcm.edu 36 22 18132518 18132518 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 18132518 18132518 T C SNP TBX1 NM_080647 human genbank 54_36p 1 reviewed missense c.722 p.F241S 1 "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box" "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TMPRSS6 164656 hgsc.bcm.edu 36 22 35824418 35824418 + Missense_Mutation SNP G G T novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 G G T T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 22 35824418 35824418 G T SNP TMPRSS6 NM_153609 human genbank 54_36p -1 reviewed missense c.347 p.A116D 0.99 superfamily_SEA domain ############################################################################################################################################################################################################################################################### - no_errors TOM1 10043 hgsc.bcm.edu 36 22 34047995 34047995 + Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 22 34047995 34047995 A C SNP TOM1 NM_005488 human genbank 54_36p 1 reviewed missense c.181 p.N61H 1 "superfamily_ENTH_VHS,HMMPfam_VHS,HMMSmart_VHS" "superfamily_ENTH_VHS,HMMPfam_VHS,HMMSmart_VHS,superfamily_SSF89009,HMMPfam_GAT" - no_errors TOM1 10043 hgsc.bcm.edu 36 22 34060380 34060380 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 34060380 34060380 G A SNP TOM1 NM_005488 human genbank 54_36p 1 reviewed missense c.1087 p.E363K 1 NULL "HMMPfam_VHS,HMMPfam_GAT,superfamily_ENTH_VHS,HMMSmart_VHS,superfamily_SSF89009" - no_errors TRIOBP 11078 hgsc.bcm.edu 36 22 36450122 36450124 + In_Frame_Del DEL CCT CCT - novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 CCT CCT . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 36450122 36450124 CCT - DEL TRIOBP NM_001039141 human genbank 54_36p 1 reviewed in_frame_del c.1613_1615 p.S540in_frame_del 0.020:0.014:0.022 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "(deletion:cds_exon[36449138,36452456])" no_errors WBP2NL 164684 hgsc.bcm.edu 36 22 40752961 40752961 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 40752961 40752961 G A SNP WBP2NL NM_152613 human genbank 54_36p 1 validated missense c.760 p.A254T 0.01 NULL HMMPfam_WWbp - no_errors XPNPEP3 63929 hgsc.bcm.edu 36 22 39652372 39652372 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 39652372 39652372 G C SNP XPNPEP3 NM_022098 human genbank 54_36p 1 validated missense c.1511 p.S504T 0.84 superfamily_Creatinase/aminopeptidase "superfamily_Creatinase/prolidase N-terminal domain,HMMPfam_AMP_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24" - no_errors ZC3H7B 23264 hgsc.bcm.edu 36 22 40065092 40065092 + Nonsense_Mutation SNP C C G novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 40065092 40065092 C G SNP ZC3H7B NM_017590 human genbank 54_36p 1 reviewed nonsense c.767 p.S256* 0.98 NULL "superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF90229,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,HMMSmart_ZnF_C2H2" - no_errors ZDHHC8 29801 hgsc.bcm.edu 36 22 18506823 18506823 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 18506823 18506823 G T SNP ZDHHC8 NM_013373 human genbank 54_36p 1 validated missense c.211 p.G71C 0.99 NULL HMMPfam_zf-DHHC - no_errors ZMAT5 55954 hgsc.bcm.edu 36 22 28464344 28464344 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 G G A A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 22 28464344 28464344 G A SNP ZMAT5 NM_001003692 human genbank 54_36p -1 validated missense c.358 p.R120W 1 NULL "HMMPfam_zf-U1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors NOC2L 26155 broad.mit.edu 36 1 882497 882497 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 882497 882497 A G SNP NOC2L NM_015658 human genbank 54_36p -1 validated missense c.199 p.S67P 0.99 NULL HMMPfam_Noc2 - no_errors UBE2J2 118424 broad.mit.edu 36 1 1182541 1182541 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 1182541 1182541 T A SNP UBE2J2 NM_194315 human genbank 54_36p -1 reviewed missense c.233 p.H78L 1 "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" - no_errors CCNL2 81669 broad.mit.edu 36 1 1324415 1324415 + Silent SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 1324415 1324415 C T SNP CCNL2 NM_030937 human genbank 54_36p -1 validated silent c.135 p.V45 1 HMMPfam_Cyclin_N "HMMPfam_Cyclin_N,superfamily_Cyclin-like,HMMSmart_SM00385" - no_errors NADK 65220 broad.mit.edu 36 1 1675976 1675976 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 1675976 1675976 C T SNP NADK NM_023018 human genbank 54_36p -1 validated missense c.710 p.R237Q 1 "superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase" "superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase" - no_errors KIAA1751 85452 broad.mit.edu 36 1 1887722 1887722 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 1887722 1887722 A G SNP KIAA1751 NM_001080484 human genbank 54_36p -1 predicted missense c.1349 p.L450S 0.03 NULL NULL - no_errors GABRD 2563 broad.mit.edu 36 1 1951290 1951290 + Silent SNP G G C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 1951290 1951290 G C SNP GABRD NM_000815 human genbank 54_36p 1 reviewed silent c.1068 p.V356 1 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRD 2563 broad.mit.edu 36 1 1951512 1951512 + Silent SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 1951512 1951512 C T SNP GABRD NM_000815 human genbank 54_36p 1 reviewed silent c.1290 p.Y430 0.8 "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM" "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL" - no_errors PLCH2 9651 broad.mit.edu 36 1 2410548 2410548 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 2410548 2410548 C G SNP PLCH2 NM_014638 human genbank 54_36p 1 provisional missense c.1278 p.I426M 0.02 "HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases" ############################################################################################################################################################################################################################################################### - no_errors PANK4 55229 broad.mit.edu 36 1 2439497 2439497 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 2439497 2439497 T A SNP PANK4 NM_018216 human genbank 54_36p -1 reviewed missense c.1184 p.E395V 0.9 NULL "HMMPfam_Fumble,superfamily_Hypothetical protein At2g17340,HMMPfam_DUF89" - no_errors PANK4 55229 broad.mit.edu 36 1 2442107 2442107 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 2442107 2442107 T G SNP PANK4 NM_018216 human genbank 54_36p -1 reviewed missense c.521 p.D174A 1 HMMPfam_Fumble "HMMPfam_DUF89,superfamily_Hypothetical protein At2g17340,HMMPfam_Fumble" - no_errors MMEL1 79258 broad.mit.edu 36 1 2515210 2515210 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 2515210 2515210 C A SNP MMEL1 NM_033467 human genbank 54_36p -1 reviewed missense c.1743 p.Q581H 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors ACTRT2 140625 broad.mit.edu 36 1 2928909 2928909 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 2928909 2928909 C G SNP ACTRT2 NM_080431 human genbank 54_36p 1 reviewed missense c.799 p.Q267E 0 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE" - no_errors PRDM16 63976 broad.mit.edu 36 1 3318574 3318574 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 3318574 3318574 C T SNP PRDM16 NM_022114 human genbank 54_36p 1 reviewed silent c.1953 p.G651 0.41 NULL "superfamily_SET domain,HMMSmart_SM00317,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PRDM16 63976 broad.mit.edu 36 1 3318830 3318830 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 3318830 3318830 C G SNP PRDM16 NM_022114 human genbank 54_36p 1 reviewed missense c.2209 p.L737V 1 NULL "HMMSmart_SM00317,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_SET domain" - no_errors LRRC47 57470 broad.mit.edu 36 1 3687746 3687746 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 3687746 3687746 C G SNP LRRC47 NM_020710 human genbank 54_36p -1 validated missense c.1518 p.M506I 1 HMMPfam_B3_4 "superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMPfam_B3_4" - no_errors AJAP1 55966 broad.mit.edu 36 1 4671908 4671908 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 4671908 4671908 G A SNP AJAP1 NM_001042478 human genbank 54_36p 1 validated missense c.118 p.A40T 0.04 NULL PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors NPHP4 261734 broad.mit.edu 36 1 5859763 5859763 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 5859763 5859763 C T SNP NPHP4 NM_015102 human genbank 54_36p -1 reviewed missense c.2794 p.G932S 0 NULL NULL - no_errors NPHP4 261734 broad.mit.edu 36 1 5930817 5930817 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 5930817 5930817 C G SNP NPHP4 NM_015102 human genbank 54_36p -1 reviewed missense c.892 p.V298L 1 NULL NULL - no_errors CHD5 26038 broad.mit.edu 36 1 6109327 6109328 + Frame_Shift_Ins INS - AT - novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 6109327 6109328 - AT INS CHD5 NM_015557 human genbank 54_36p -1 provisional frame_shift_ins c.3970_3969 p.L1323fs 1.000:0.998 HMMPfam_DUF1087 ############################################################################################################################################################################################################################################################### - no_errors CHD5 26038 broad.mit.edu 36 1 6111605 6111605 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 6111605 6111605 T C SNP CHD5 NM_015557 human genbank 54_36p -1 provisional missense c.3499 p.M1167V 1 superfamily_SSF52540 ############################################################################################################################################################################################################################################################### - no_errors RNF207 388591 broad.mit.edu 36 1 6193033 6193033 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 6193033 6193033 G T SNP RNF207 NM_207396 human genbank 54_36p 1 validated missense c.890 p.C297F 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain" - no_errors HES2 54626 broad.mit.edu 36 1 6401937 6401937 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 6401937 6401937 C T SNP HES2 NM_019089 human genbank 54_36p -1 validated silent c.192 p.V64 1 "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_Hairy_orange,HMMSmart_SM00511" - no_errors ESPN 83715 broad.mit.edu 36 1 6423026 6423026 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 6423026 6423026 A G SNP ESPN NM_031475 human genbank 54_36p 1 validated missense c.614 p.D205G 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_WH2,HMMSmart_SM00246" - no_errors ZBTB48 3104 broad.mit.edu 36 1 6569905 6569905 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 6569905 6569905 G A SNP ZBTB48 NM_005341 human genbank 54_36p 1 validated missense c.1191 p.M397I 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors DNAJC11 55735 broad.mit.edu 36 1 6619976 6619976 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 6619976 6619976 C T SNP DNAJC11 NM_018198 human genbank 54_36p -1 validated missense c.1393 p.V465I 0.98 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1" - no_errors CAMTA1 23261 broad.mit.edu 36 1 7715179 7715179 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 7715179 7715179 A C SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated missense c.2999 p.K1000T 1 NULL "HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ" - no_errors CAMTA1 23261 broad.mit.edu 36 1 7733854 7733854 + Silent SNP T T A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 7733854 7733854 T A SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated silent c.4698 p.L1566 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_IQ,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_TIG,HMMPfam_CG-1,superfamily_E set domains,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TNFRSF9 3604 broad.mit.edu 36 1 7922616 7922616 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 7922616 7922616 A T SNP TNFRSF9 NM_001561 human genbank 54_36p -1 reviewed missense c.26 p.V9E 0.02 NULL "HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1,superfamily_SSF57586" - no_errors ERRFI1 54206 broad.mit.edu 36 1 7996687 7996687 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 7996687 7996687 T C SNP ERRFI1 NM_018948 human genbank 54_36p -1 validated missense c.559 p.T187A 0.02 NULL HMMPfam_GTPase_binding - no_errors SLC45A1 50651 broad.mit.edu 36 1 8313185 8313185 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 8313185 8313185 G A SNP SLC45A1 NM_001080397 human genbank 54_36p 1 provisional missense c.1045 p.G349S 1 HMMPfam_MFS_1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC45A1 50651 broad.mit.edu 36 1 8322189 8322189 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 8322189 8322189 C T SNP SLC45A1 NM_001080397 human genbank 54_36p 1 provisional silent c.1824 p.F608 1 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors RERE 473 broad.mit.edu 36 1 8341536 8341536 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 8341536 8341536 G A SNP RERE NM_001042681 human genbank 54_36p -1 reviewed missense c.3646 p.R1216C 1 HMMPfam_Atrophin-1 "HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_GATA,HMMPfam_Atrophin-1" - no_errors RERE 473 broad.mit.edu 36 1 8342455 8342456 + In_Frame_Ins INS - CTCCTT - novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 8342455 8342456 - CTCCTT INS RERE NM_001042681 human genbank 54_36p -1 reviewed in_frame_ins c.3574_3573 p.1191in_frame_insKE 0.997:1.000 HMMPfam_Atrophin-1 "HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_GATA,HMMPfam_Atrophin-1" - no_errors RERE 473 broad.mit.edu 36 1 8477741 8477741 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 8477741 8477741 C T SNP RERE NM_001042681 human genbank 54_36p -1 reviewed missense c.1073 p.R358Q 1 NULL "HMMPfam_GATA,HMMSmart_SM00401,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_Atrophin-1,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors CA6 765 broad.mit.edu 36 1 8939918 8939918 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 8939918 8939918 G C SNP CA6 NM_001215 human genbank 54_36p 1 reviewed missense c.395 p.R132T 0.18 "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors CA6 765 broad.mit.edu 36 1 8941642 8941642 + Silent SNP C C T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 8941642 8941642 C T SNP CA6 NM_001215 human genbank 54_36p 1 reviewed silent c.495 p.F165 0 "HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd" "HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd,PatternScan_ALPHA_CA_1" - no_errors H6PD 9563 broad.mit.edu 36 1 9247369 9247372 + Frame_Shift_Del DEL GTCC - GTCC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GTCC GTCC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 9247369 9247372 GTCC - DEL H6PD NM_004285 human genbank 54_36p 1 reviewed frame_shift_del c.2230_2233 p.V744fs 0.965:0.979:0.939:0.991 "superfamily_SSF100950,HMMPfam_Glucosamine_iso" "superfamily_NAD(P)-bd,HMMPfam_G6PD_N,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347,HMMPfam_G6PD_C,superfamily_SSF100950,HMMPfam_Glucosamine_iso" "(deletion:cds_exon[9246155,9247515])" no_errors PGD 5226 broad.mit.edu 36 1 10400053 10400053 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 10400053 10400053 C G SNP PGD NM_002631 human genbank 54_36p 1 reviewed missense c.1009 p.Q337E 1 "superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,HMMPfam_6PGD" "HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,HMMPfam_6PGD,PatternScan_6PGD" - no_errors CASZ1 54897 broad.mit.edu 36 1 10627589 10627589 + Silent SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 10627589 10627589 G A SNP CASZ1 NM_001079843 human genbank 54_36p -1 validated silent c.3840 p.F1280 1 NULL "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CASZ1 54897 broad.mit.edu 36 1 10636042 10636042 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 10636042 10636042 G C SNP CASZ1 NM_001079843 human genbank 54_36p -1 validated missense c.2659 p.P887A 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors MASP2 10747 broad.mit.edu 36 1 11009954 11009954 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11009954 11009954 T A SNP MASP2 NM_006610 human genbank 54_36p -1 reviewed missense c.1636 p.S546C 0 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors MASP2 10747 broad.mit.edu 36 1 11020432 11020432 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11020432 11020432 C G SNP MASP2 NM_006610 human genbank 54_36p -1 reviewed missense c.913 p.A305P 0.97 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" ############################################################################################################################################################################################################################################################### - no_errors MTOR 2475 broad.mit.edu 36 1 11195525 11195525 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11195525 11195525 C T SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.3313 p.A1105T 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_SSF48452,HMMPfam_FAT,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors MTOR 2475 broad.mit.edu 36 1 11230470 11230470 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 11230470 11230470 A T SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.1109 p.F370Y 1 superfamily_ARM-type_fold "HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_FAT,HMMPfam_FATC,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF48452" - no_errors MTOR 2475 broad.mit.edu 36 1 11241933 11241933 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 11241933 11241933 C A SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.121 p.A41S 1 superfamily_ARM-type_fold "HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_FAT,HMMPfam_FATC,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF48452" - no_errors PTCHD2 57540 broad.mit.edu 36 1 11483988 11483988 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11483988 11483988 C T SNP PTCHD2 NM_020780 human genbank 54_36p 1 validated missense c.352 p.R118C 1 NULL "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors FBXO44 93611 broad.mit.edu 36 1 11640949 11640949 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11640949 11640949 G A SNP FBXO44 NM_001014765 human genbank 54_36p 1 reviewed missense c.304 p.D102N 0.94 "HMMPfam_FBA,superfamily_Galactose-binding domain-like" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMPfam_FBA,superfamily_Galactose-binding domain-like" - no_errors NPPA 4878 broad.mit.edu 36 1 11828658 11828658 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11828658 11828658 A G SNP NPPA NM_006172 human genbank 54_36p -1 provisional missense c.451 p.Y151H 0.99 NULL "HMMPfam_ANP,HMMSmart_NAT_PEP,PatternScan_NATRIURETIC_PEPTIDE" - no_errors NPPB 4879 broad.mit.edu 36 1 11840951 11840951 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11840951 11840951 G A SNP NPPB NM_002521 human genbank 54_36p -1 reviewed missense c.295 p.R99W 0.02 HMMPfam_ANP "HMMPfam_ANP,HMMSmart_NAT_PEP,PatternScan_NATRIURETIC_PEPTIDE" - no_errors KIAA2013 90231 broad.mit.edu 36 1 11905787 11905787 + Silent SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11905787 11905787 C T SNP KIAA2013 NM_138346 human genbank 54_36p -1 provisional silent c.1380 p.G460 0.99 HMMPfam_DUF2152 HMMPfam_DUF2152 - no_errors PLOD1 5351 broad.mit.edu 36 1 11941249 11941249 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 11941249 11941249 C T SNP PLOD1 NM_000302 human genbank 54_36p 1 reviewed silent c.933 p.L311 0.07 NULL "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE" - no_errors TNFRSF8 943 broad.mit.edu 36 1 12087120 12087120 + Silent SNP T T C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 12087120 12087120 T C SNP TNFRSF8 NM_001243 human genbank 54_36p 1 reviewed silent c.366 p.C122 1 "superfamily_TNF receptor-like,HMMSmart_SM00208" "HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1" - no_errors VPS13D 55187 broad.mit.edu 36 1 12255739 12255739 + Silent SNP T T A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 12255739 12255739 T A SNP VPS13D NM_015378 human genbank 54_36p 1 reviewed silent c.2196 p.V732 1 NULL "superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_DUF1162" - no_errors VPS13D 55187 broad.mit.edu 36 1 12325666 12325666 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 12325666 12325666 A C SNP VPS13D NM_015378 human genbank 54_36p 1 reviewed missense c.8856 p.E2952D 1 NULL "HMMPfam_UBA,superfamily_UBA-like,HMMPfam_DUF1162,HMMSmart_SM00165" - no_errors VPS13D 55187 broad.mit.edu 36 1 12397828 12397828 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 12397828 12397828 C T SNP VPS13D NM_015378 human genbank 54_36p 1 reviewed silent c.12132 p.F4044 1 NULL "HMMPfam_UBA,superfamily_UBA-like,HMMPfam_DUF1162,HMMSmart_SM00165" - no_errors VPS13D 55187 broad.mit.edu 36 1 12480139 12480139 + Splice_Site SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 12480139 12480139 A G SNP VPS13D NM_015378 human genbank 54_36p 1 reviewed splice_site c.12663-2 e67-2 0.96 - - - no_errors AADACL4 343066 broad.mit.edu 36 1 12648632 12648632 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 12648632 12648632 A C SNP AADACL4 NM_001013630 human genbank 54_36p 1 provisional missense c.523 p.K175Q 0.96 "superfamily_SSF53474,HMMPfam_Abhydrolase_3" "PatternScan_LIPASE_GDXG_HIS,PatternScan_LIPASE_GDXG_SER,superfamily_SSF53474,HMMPfam_Abhydrolase_3" - no_errors C1orf158 93190 broad.mit.edu 36 1 12741948 12741948 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 12741948 12741948 G C SNP C1orf158 NM_152290 human genbank 54_36p 1 predicted missense c.344 p.R115P 0.08 NULL NULL - no_errors PRAMEF1 65121 broad.mit.edu 36 1 12777122 12777122 + Silent SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 12777122 12777122 A T SNP PRAMEF1 NM_023013 human genbank 54_36p 1 provisional silent c.759 p.G253 0 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF4 400735 broad.mit.edu 36 1 12862293 12862293 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 12862293 12862293 C G SNP PRAMEF4 NM_001009611 human genbank 54_36p -1 validated missense c.1096 p.D366H 0.03 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF10 343071 broad.mit.edu 36 1 12877151 12877151 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 12877151 12877151 G T SNP PRAMEF10 NM_001039361 human genbank 54_36p -1 validated missense c.719 p.A240D 0 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF18 391003 broad.mit.edu 36 1 13347702 13347712 + Frame_Shift_Del DEL CTCAAGACGGA - CTCAAGACGGA novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 CTCAAGACGGA CTCAAGACGGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 13347702 13347712 CTCAAGACGGA - DEL PRAMEF18 NM_001099850 human genbank 54_36p -1 validated frame_shift_del c.1014_1004 p.I335fs 0.014:0.007:0.006:0.003:0.002:0.003:0.003:0.002:0.000:0.000:0.000 superfamily_SSF52047 superfamily_SSF52047 "(deletion:cds_exon[13347276,13347849])" no_errors PDPN 10630 broad.mit.edu 36 1 13809526 13809526 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 13809526 13809526 G C SNP PDPN NM_006474 human genbank 54_36p 1 reviewed missense c.487 p.E163Q 0.01 HMMPfam_Podoplanin HMMPfam_Podoplanin - no_errors PDPN 10630 broad.mit.edu 36 1 13809592 13809592 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 13809592 13809592 T C SNP PDPN NM_006474 human genbank 54_36p 1 reviewed missense c.553 p.S185P 0 HMMPfam_Podoplanin HMMPfam_Podoplanin - no_errors CELA2A 63036 broad.mit.edu 36 1 15666565 15666565 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 15666565 15666565 A G SNP ELA2A NM_033440 human genbank 54_36p 1 reviewed missense c.737 p.Y246C 0.96 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors PLEKHM2 23207 broad.mit.edu 36 1 15927387 15927388 + Missense_Mutation DNP GC GC TG novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 15927387 15927388 GC TG DNP PLEKHM2 NM_015164 human genbank 54_36p 1 validated missense c.2178_2179 p.Q727E 1.000:1.000 NULL "HMMPfam_RUN,HMMSmart_SM00593,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors PLEKHM2 23207 broad.mit.edu 36 1 15929708 15929708 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 15929708 15929708 C G SNP PLEKHM2 NM_015164 human genbank 54_36p 1 validated missense c.2612 p.P871R 0.16 superfamily_PH domain-like "HMMPfam_PH,HMMSmart_SM00233,HMMPfam_RUN,HMMSmart_SM00593,PatternScan_ALDEHYDE_DEHYDR_CYS,superfamily_PH domain-like" - no_errors SPEN 23013 broad.mit.edu 36 1 16131779 16131779 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 16131779 16131779 G A SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.6457 p.V2153M 0 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC" - no_errors SPEN 23013 broad.mit.edu 36 1 16132924 16132924 + Silent SNP G G C novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 16132924 16132924 G C SNP SPEN NM_015001 human genbank 54_36p 1 reviewed silent c.7602 p.L2534 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928" - no_errors SPEN 23013 broad.mit.edu 36 1 16133684 16133684 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16133684 16133684 G C SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.8362 p.G2788R 0.99 NULL "HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928" - no_errors SPEN 23013 broad.mit.edu 36 1 16133869 16133869 + Silent SNP G G A novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;ManualReview;Capture Illumina GAIIx 1 16133869 16133869 G A SNP SPEN NM_015001 human genbank 54_36p 1 reviewed silent c.8547 p.Q2849 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928" - no_errors ZBTB17 7709 broad.mit.edu 36 1 16141745 16141745 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16141745 16141745 G C SNP ZBTB17 NM_003443 human genbank 54_36p -1 validated missense c.1904 p.T635S 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZBTB17 7709 broad.mit.edu 36 1 16146090 16146090 + Silent SNP G G C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16146090 16146090 G C SNP ZBTB17 NM_003443 human genbank 54_36p -1 validated silent c.321 p.A107 1 "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CLCNKA 1187 broad.mit.edu 36 1 16232309 16232309 + Silent SNP A A C novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 16232309 16232309 A C SNP CLCNKA NM_004070 human genbank 54_36p 1 reviewed silent c.1987 p.R663 0.92 HMMPfam_CBS "superfamily_Cl-channel_core,HMMPfam_Voltage_CLC,superfamily_SSF54631,HMMPfam_CBS,HMMSmart_CBS" - no_errors CLCNKB 1188 broad.mit.edu 36 1 16247118 16247118 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16247118 16247118 G A SNP CLCNKB NM_000085 human genbank 54_36p 1 validated missense c.490 p.G164R 1 "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC" "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116" - no_errors CLCNKB 1188 broad.mit.edu 36 1 16251279 16251279 + Splice_Site SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16251279 16251279 G A SNP CLCNKB NM_000085 human genbank 54_36p 1 validated splice_site c.1409-1 e14-1 1 - - - no_errors EPHA2 1969 broad.mit.edu 36 1 16324359 16324359 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 16324359 16324359 G A SNP EPHA2 NM_004431 human genbank 54_36p -1 reviewed missense c.2869 p.R957C 1 "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" ############################################################################################################################################################################################################################################################### - no_errors ARHGEF19 128272 broad.mit.edu 36 1 16407167 16407167 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16407167 16407167 G C SNP ARHGEF19 NM_153213 human genbank 54_36p -1 provisional missense c.553 p.R185G 0.18 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" - no_errors FBXO42 54455 broad.mit.edu 36 1 16450213 16450213 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 16450213 16450213 C A SNP FBXO42 NM_018994 human genbank 54_36p -1 provisional missense c.1693 p.A565S 1 NULL "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_Gal_oxid_central,HMMPfam_Kelch_2,HMMPfam_Kelch_1" - no_errors NBPF1 55672 broad.mit.edu 36 1 16780516 16780516 + Silent SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 16780516 16780516 T C SNP NBPF1 NM_017940 human genbank 54_36p -1 predicted silent c.1365 p.E455 0 HMMPfam_DUF1220 HMMPfam_DUF1220 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CROCC 9696 broad.mit.edu 36 1 17123477 17123477 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 17123477 17123477 G C SNP CROCC NM_014675 human genbank 54_36p 1 validated missense c.267 p.E89D 1 NULL superfamily_Prefoldin - no_errors CROCC 9696 broad.mit.edu 36 1 17154522 17154522 + Silent SNP A A G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17154522 17154522 A G SNP CROCC NM_014675 human genbank 54_36p 1 validated silent c.3594 p.A1198 0.04 NULL superfamily_Prefoldin - no_errors ATP13A2 23400 broad.mit.edu 36 1 17199516 17199517 + Missense_Mutation DNP AT AT GA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 AT AT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17199516 17199517 AT GA DNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed missense c.806_805 p.I269S 0.926:0.011 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase" ############################################################################################################################################################################################################################################################### - no_errors ATP13A2 23400 broad.mit.edu 36 1 17203442 17203442 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17203442 17203442 C T SNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed missense c.529 p.E177K 0.96 NULL ############################################################################################################################################################################################################################################################### - no_errors PADI1 29943 broad.mit.edu 36 1 17431991 17431991 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17431991 17431991 G A SNP PADI1 NM_013358 human genbank 54_36p 1 reviewed missense c.1252 p.V418I 1 "HMMPfam_PAD,superfamily_Pentein" "HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein" - no_errors PADI3 51702 broad.mit.edu 36 1 17466930 17466930 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 17466930 17466930 A G SNP PADI3 NM_016233 human genbank 54_36p 1 reviewed missense c.538 p.M180V 1 "HMMPfam_PAD_M,superfamily_PAD_central" "HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909" - no_errors PADI6 353238 broad.mit.edu 36 1 17594100 17594100 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17594100 17594100 G A SNP PADI6 NM_207421 human genbank 54_36p 1 validated missense c.1405 p.G469S 0.53 NULL "HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PADI6 353238 broad.mit.edu 36 1 17600483 17600483 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17600483 17600483 G C SNP PADI6 ENST00000358481 human ensembl 54_36p 1 known missense c.2044 p.V682L 0.98 "HMMPfam_PAD,superfamily_Pentein" "superfamily_Cupredoxins,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,superfamily_Pentein" - no_errors ARHGEF10L 55160 broad.mit.edu 36 1 17815273 17815273 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17815273 17815273 A T SNP ARHGEF10L NM_018125 human genbank 54_36p 1 validated missense c.824 p.K275M 1 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,superfamily_WD40 repeat-like" - no_errors ARHGEF10L 55160 broad.mit.edu 36 1 17833633 17833633 + Silent SNP T T G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17833633 17833633 T G SNP ARHGEF10L NM_018125 human genbank 54_36p 1 validated silent c.1734 p.P578 0.99 superfamily_PH domain-like "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_WD40 repeat-like,superfamily_PH domain-like" - no_errors ARHGEF10L 55160 broad.mit.edu 36 1 17834064 17834064 + Silent SNP C C T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17834064 17834064 C T SNP ARHGEF10L NM_018125 human genbank 54_36p 1 validated silent c.1893 p.G631 0.96 superfamily_PH domain-like "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_WD40 repeat-like,superfamily_PH domain-like" - no_errors ARHGEF10L 55160 broad.mit.edu 36 1 17886718 17886718 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 17886718 17886718 G A SNP ARHGEF10L NM_018125 human genbank 54_36p 1 validated missense c.3073 p.G1025S 1 superfamily_WD40 repeat-like "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_WD40 repeat-like,superfamily_PH domain-like" - no_errors ACTL8 81569 broad.mit.edu 36 1 18024900 18024900 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 18024900 18024900 C T SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional nonsense c.400 p.Q134* 1 "superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN" "superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN" - no_errors IGSF21 84966 broad.mit.edu 36 1 18564705 18564705 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 18564705 18564705 C A SNP IGSF21 NM_032880 human genbank 54_36p 1 provisional missense c.942 p.D314E 1 superfamily_SSF48726 "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" - no_errors IGSF21 84966 broad.mit.edu 36 1 18575958 18575958 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 18575958 18575958 C T SNP IGSF21 NM_032880 human genbank 54_36p 1 provisional silent c.1179 p.D393 0.95 "HMMSmart_IG,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726" - no_errors UBR4 23352 broad.mit.edu 36 1 19293085 19293085 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 19293085 19293085 C A SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.13882 p.V4628L 0.62 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-UBR,HMMSmart_SM00396,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 broad.mit.edu 36 1 19314717 19314717 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 19314717 19314717 G T SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.10825 p.P3609T 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 broad.mit.edu 36 1 19316315 19316316 + Nonsense_Mutation DNP CC CC AT novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 19316315 19316316 CC AT DNP UBR4 NM_020765 human genbank 54_36p -1 validated nonsense c.10810_10809 p.EL3604* 1.000:1.000 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors MRTO4 51154 broad.mit.edu 36 1 19457617 19457617 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 19457617 19457617 G A SNP MRTO4 NM_016183 human genbank 54_36p 1 reviewed missense c.553 p.E185K 1 NULL HMMPfam_Ribosomal_L10 - no_errors AKR7L 246181 broad.mit.edu 36 1 19467716 19467716 + Silent SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 19467716 19467716 G A SNP AKR7L NM_201252 human genbank 54_36p -1 reviewed silent c.237 p.G79 0.15 superfamily_Aldo/ket_red superfamily_Aldo/ket_red - no_errors AKR7A3 22977 broad.mit.edu 36 1 19483139 19483139 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 19483139 19483139 C A SNP AKR7A3 NM_012067 human genbank 54_36p -1 validated missense c.772 p.A258S 0.95 superfamily_Aldo/ket_red "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" - no_errors CAPZB 832 broad.mit.edu 36 1 19618803 19618803 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 19618803 19618803 T A SNP CAPZB NM_004930 human genbank 54_36p -1 reviewed missense c.32 p.D11V 1 "superfamily_Subunits of heterodimeric actin filament capping protein Capz,HMMPfam_F_actin_cap_B" "superfamily_Subunits of heterodimeric actin filament capping protein Capz,HMMPfam_F_actin_cap_B,PatternScan_F_ACTIN_CAPPING_BETA" - no_errors NBL1 4681 broad.mit.edu 36 1 19854233 19854233 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 19854233 19854233 C T SNP NBL1 NM_182744 human genbank 54_36p 1 reviewed silent c.228 p.T76 1 "HMMPfam_DAN,HMMSmart_CT" "HMMPfam_DAN,HMMSmart_CT" - no_errors HTR6 3362 broad.mit.edu 36 1 19878209 19878209 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 19878209 19878209 C T SNP HTR6 NM_000871 human genbank 54_36p 1 provisional missense c.1084 p.P362S 0.9 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PLA2G2F 64600 broad.mit.edu 36 1 20338596 20338596 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 20338596 20338596 G T SNP PLA2G2F NM_022819 human genbank 54_36p 1 validated missense c.89 p.G30V 0.07 NULL "HMMSmart_PA2c,HMMPfam_Phospholip_A2_1,superfamily_PhospholipaseA2,PatternScan_PA2_HIS" - no_errors PINK1 65018 broad.mit.edu 36 1 20848267 20848267 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 20848267 20848267 G A SNP PINK1 NM_032409 human genbank 54_36p 1 reviewed missense c.1444 p.V482M 0 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors KIF17 57576 broad.mit.edu 36 1 20897531 20897531 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 20897531 20897531 C G SNP KIF17 NM_020816 human genbank 54_36p -1 validated missense c.1161 p.Q387H 0.01 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors EIF4G3 8672 broad.mit.edu 36 1 21050446 21050446 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 21050446 21050446 G C SNP EIF4G3 NM_003760 human genbank 54_36p -1 validated missense c.3496 p.Q1166E 1 NULL "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,superfamily_PH domain-like,HMMSmart_SM00515,HMMPfam_W2" - no_errors ECE1 1889 broad.mit.edu 36 1 21419087 21419087 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 21419087 21419087 C T SNP ECE1 NM_001397 human genbank 54_36p -1 validated missense c.2261 p.R754H 0.98 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,PatternScan_ZINC_PROTEASE" - no_errors ECE1 1889 broad.mit.edu 36 1 21444134 21444134 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 21444134 21444134 A C SNP ECE1 NM_001397 human genbank 54_36p -1 validated missense c.1213 p.F405V 1 "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (zincins) catalytic domain" "PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ALPL 249 broad.mit.edu 36 1 21762289 21762289 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 21762289 21762289 G A SNP ALPL NM_000478 human genbank 54_36p 1 reviewed missense c.397 p.A133T 0.47 "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc" "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE" - no_errors RAP1GAP 5909 broad.mit.edu 36 1 21809219 21809219 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 21809219 21809219 G A SNP RAP1GAP NM_002885 human genbank 54_36p -1 validated missense c.980 p.P327L 0.75 "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" "HMMPfam_GoLoco,HMMSmart_SM00390,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" - no_errors RAP1GAP 5909 broad.mit.edu 36 1 21816446 21816446 + Silent SNP G G T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 21816446 21816446 G T SNP RAP1GAP NM_002885 human genbank 54_36p -1 validated silent c.231 p.T77 0.88 NULL "HMMPfam_Rap_GAP,HMMPfam_GoLoco,HMMSmart_SM00390,superfamily_Rap/Ran-GAP (Pfam 02145)" - no_errors USP48 84196 broad.mit.edu 36 1 21920755 21920755 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 21920755 21920755 T A SNP USP48 NM_032236 human genbank 54_36p -1 reviewed missense c.1738 p.N580Y 1 NULL "HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like" - no_errors HSPG2 3339 broad.mit.edu 36 1 22031587 22031587 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 22031587 22031587 C T SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.11195 p.R3732K 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 broad.mit.edu 36 1 22041354 22041354 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 22041354 22041354 G A SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.9017 p.T3006I 0.27 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 broad.mit.edu 36 1 22050720 22050720 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 22050720 22050720 C G SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.7064 p.G2355A 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_ig,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 broad.mit.edu 36 1 22077668 22077668 + Silent SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 22077668 22077668 G T SNP HSPG2 NM_005529 human genbank 54_36p -1 validated silent c.2547 p.R849 1 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 broad.mit.edu 36 1 22095357 22095357 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 22095357 22095357 A G SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.97 p.S33P 0.7 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHB2 2048 broad.mit.edu 36 1 22983771 22983771 + Silent SNP A A C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 22983771 22983771 A C SNP EPHB2 NM_004442 human genbank 54_36p 1 reviewed silent c.426 p.A142 0.48 "superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd" ############################################################################################################################################################################################################################################################### - no_errors EPHB2 2048 broad.mit.edu 36 1 23081500 23081500 + Silent SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 23081500 23081500 G A SNP EPHB2 NM_004442 human genbank 54_36p 1 reviewed silent c.1365 p.S455 1 "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" ############################################################################################################################################################################################################################################################### - no_errors E2F2 1870 broad.mit.edu 36 1 23720971 23720971 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 23720971 23720971 C T SNP E2F2 NM_004091 human genbank 54_36p -1 reviewed missense c.523 p.V175M 1 "superfamily_SSF46785,HMMPfam_E2F_TDP" "superfamily_SSF46785,HMMPfam_E2F_TDP" - no_errors E2F2 1870 broad.mit.edu 36 1 23729810 23729810 + Silent SNP C C A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 23729810 23729810 C A SNP E2F2 NM_004091 human genbank 54_36p -1 reviewed silent c.63 p.A21 0.03 NULL "HMMPfam_E2F_TDP,superfamily_SSF46785" - no_errors TCEB3 6924 broad.mit.edu 36 1 23950097 23950097 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 23950097 23950097 C A SNP TCEB3 NM_003198 human genbank 54_36p 1 reviewed missense c.415 p.L139I 0.28 NULL "superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMPfam_TFIIS,HMMSmart_SM00509,HMMPfam_Elongin_A" - no_errors LYPLA2 11313 broad.mit.edu 36 1 23993658 23993658 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 23993658 23993658 T C SNP LYPLA2 NM_007260 human genbank 54_36p 1 reviewed missense c.626 p.M209T 1 "superfamily_SSF53474,HMMPfam_Abhydrolase_2" "superfamily_SSF53474,HMMPfam_Abhydrolase_2" - no_errors HMGCL 3155 broad.mit.edu 36 1 24003512 24003512 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 24003512 24003512 G A SNP HMGCL NM_000191 human genbank 54_36p -1 validated silent c.841 p.L281 1 "superfamily_Aldolase,HMMPfam_HMGL-like" "superfamily_Aldolase,HMMPfam_HMGL-like,PatternScan_HMG_COA_LYASE" - no_errors MYOM3 127294 broad.mit.edu 36 1 24307664 24307665 + Frame_Shift_Ins INS - G - novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 24307664 24307665 - G INS MYOM3 NM_152372 human genbank 54_36p -1 validated frame_shift_ins c.50_49 p.Q17fs 0.938:0.957 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_EF_HAND_1,HMMPfam_ig" - no_errors GRHL3 57822 broad.mit.edu 36 1 24536807 24536807 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 24536807 24536807 G A SNP GRHL3 NM_021180 human genbank 54_36p 1 reviewed missense c.796 p.V266I 0.34 HMMPfam_CP2 HMMPfam_CP2 - no_errors C1orf201 90529 broad.mit.edu 36 1 24572784 24572784 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 24572784 24572784 G A SNP C1orf201 NM_178122 human genbank 54_36p -1 predicted missense c.425 p.P142L 1 NULL NULL - no_errors SRRM1 10250 broad.mit.edu 36 1 24861854 24861854 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 24861854 24861854 C T SNP SRRM1 NM_005839 human genbank 54_36p 1 validated nonsense c.1600 p.R534* 1 NULL "superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI" - no_errors TMEM57 55219 broad.mit.edu 36 1 25690650 25690650 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 25690650 25690650 G A SNP TMEM57 NM_018202 human genbank 54_36p 1 validated missense c.1780 p.E594K 1 HMMPfam_Macoilin "HMMPfam_Macoilin,superfamily_Prefoldin" - no_errors SEPN1 57190 broad.mit.edu 36 1 26000121 26000121 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 26000121 26000121 G T SNP SEPN1 ENST00000354177 human ensembl 54_36p 1 known nonsense c.184 p.E62* 1 NULL NULL - no_errors PAFAH2 5051 broad.mit.edu 36 1 26175832 26175832 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 26175832 26175832 C T SNP PAFAH2 NM_000437 human genbank 54_36p -1 reviewed missense c.686 p.R229H 0.81 "HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases" "HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases" - no_errors EXTL1 2134 broad.mit.edu 36 1 26221812 26221812 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 26221812 26221812 C T SNP EXTL1 NM_004455 human genbank 54_36p 1 reviewed missense c.88 p.L30F 0.99 NULL "HMMPfam_Exostosin,superfamily_SSF53448,HMMPfam_Glyco_transf_64" - no_errors TRIM63 84676 broad.mit.edu 36 1 26260276 26260276 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 26260276 26260276 C A SNP TRIM63 NM_032588 human genbank 54_36p -1 reviewed missense c.469 p.A157S 1 "HMMPfam_zf-B_box,HMMSmart_BBOX" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX" - no_errors PDIK1L 149420 broad.mit.edu 36 1 26321116 26321116 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 26321116 26321116 C G SNP PDIK1L NM_152835 human genbank 54_36p 1 validated missense c.487 p.R163G 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CNKSR1 10256 broad.mit.edu 36 1 26387314 26387314 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 26387314 26387314 G A SNP CNKSR1 NM_006314 human genbank 54_36p 1 reviewed nonsense c.1457 p.W486* 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2,HMMPfam_CRIC_ras_sig,superfamily_PDZ domain-like,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors CNKSR1 10256 broad.mit.edu 36 1 26388500 26388504 + Frame_Shift_Del DEL CAGCT - CAGCT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CAGCT CAGCT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 26388500 26388504 CAGCT - DEL CNKSR1 NM_006314 human genbank 54_36p 1 reviewed frame_shift_del c.2016_2020 p.S673fs 0.006:0.000:0.000:0.001:0.000 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2,HMMPfam_CRIC_ras_sig,superfamily_PDZ domain-like,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "(deletion:cds_exon[26388357,26388626])" no_errors CATSPER4 378807 broad.mit.edu 36 1 26400507 26400507 + Silent SNP G G A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 26400507 26400507 G A SNP CATSPER4 NM_198137 human genbank 54_36p 1 validated silent c.1275 p.T425 0 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors UBXN11 91544 broad.mit.edu 36 1 26481399 26481476 + Splice_Site DEL CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA - CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 26481399 26481476 CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA - DEL UBXN11 ENST00000389235 human ensembl 54_36p -1 known splice_site_del c.1397_1363 p.P455fs 0.003:0.002:0.002:0.005:0.006:0.005:0.011:0.017:0.022:0.027:0.032:0.036:0.039:0.043:0.046:0.048:0.050:0.052:0.054:0.055:0.055:0.056:0.056:0.056:0.056:0.055:0.054:0.053:0.051:0.049:0.047:0.041:0.032:0.029:0.030 NULL "superfamily_NSFL1 (p97 ATPase) cofactor p47 SEP domain,HMMPfam_SEP,superfamily_Ubiquitin-like,HMMPfam_UBX" "(deletion:cds_exon[26481377,26481433], intron[26481434,26481478])" no_errors UBXN11 91544 broad.mit.edu 36 1 26483246 26483246 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 26483246 26483246 G A SNP UBXN11 NM_183008 human genbank 54_36p -1 reviewed missense c.1051 p.R351W 1 NULL "superfamily_NSFL1 (p97 ATPase) cofactor p47 SEP domain,HMMPfam_SEP,superfamily_Ubiquitin-like,HMMPfam_UBX" - no_errors RPS6KA1 6195 broad.mit.edu 36 1 26758014 26758014 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 26758014 26758014 A G SNP RPS6KA1 NM_001006665 human genbank 54_36p 1 reviewed missense c.1241 p.Q414R 1 superfamily_Kinase_like "superfamily_Kinase_like,HMMPfam_Pkinase,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors RPS6KA1 6195 broad.mit.edu 36 1 26770634 26770634 + Silent SNP T T G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 26770634 26770634 T G SNP RPS6KA1 NM_001006665 human genbank 54_36p 1 reviewed silent c.1725 p.A575 0.73 "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" "HMMSmart_S_TK_X,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors NUDC 10726 broad.mit.edu 36 1 27140889 27140889 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 27140889 27140889 G A SNP NUDC NM_006600 human genbank 54_36p 1 provisional missense c.422 p.G141E 0.99 NULL "superfamily_HSP20_chap,HMMPfam_CS" - no_errors WASF2 10163 broad.mit.edu 36 1 27611675 27611675 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 27611675 27611675 G C SNP WASF2 NM_006990 human genbank 54_36p -1 reviewed missense c.802 p.P268A 1 NULL "HMMPfam_WH2,HMMSmart_WH2" - no_errors SMPDL3B 27293 broad.mit.edu 36 1 28153489 28153489 + Silent SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 28153489 28153489 G T SNP SMPDL3B NM_014474 human genbank 54_36p 1 validated silent c.555 p.G185 0 "superfamily_Metallo-dependent phosphatases,HMMPfam_Metallophos" "superfamily_Metallo-dependent phosphatases,HMMPfam_Metallophos" - no_errors EYA3 2140 broad.mit.edu 36 1 28187735 28187735 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 28187735 28187735 G C SNP EYA3 NM_001990 human genbank 54_36p -1 reviewed missense c.1438 p.L480V 1 HMMPfam_Hydrolase HMMPfam_Hydrolase - no_errors RCC1 1104 broad.mit.edu 36 1 28735875 28735875 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 28735875 28735875 T G SNP RCC1 NM_001048194 human genbank 54_36p 1 validated missense c.1060 p.Y354D 1 "superfamily_RCC1/BLIP-II,HMMPfam_RCC1" "superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_1,PatternScan_RCC1_2" - no_errors OPRD1 4985 broad.mit.edu 36 1 29062295 29062295 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 29062295 29062295 C G SNP OPRD1 NM_000911 human genbank 54_36p 1 validated missense c.1032 p.S344R 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors EPB41 2035 broad.mit.edu 36 1 29264184 29264184 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 29264184 29264184 G C SNP EPB41 NM_203343 human genbank 54_36p 1 validated missense c.1844 p.W615S 1 HMMPfam_SAB "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD" - no_errors EPB41 2035 broad.mit.edu 36 1 29308495 29308495 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 29308495 29308495 T C SNP EPB41 NM_203343 human genbank 54_36p 1 validated missense c.2107 p.S703P 1 HMMPfam_4_1_CTD "HMMPfam_SAB,HMMPfam_4_1_CTD,HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF54236" - no_errors TMEM200B 399474 broad.mit.edu 36 1 29320207 29320207 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 29320207 29320207 T A SNP TMEM200B NM_001003682 human genbank 54_36p -1 validated missense c.721 p.T241S 0.04 NULL HMMPfam_DUF2371 - no_errors SRSF4 6429 broad.mit.edu 36 1 29347560 29347560 + Silent SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 29347560 29347560 A C SNP SFRS4 NM_005626 human genbank 54_36p -1 reviewed silent c.1434 p.S478 0.93 NULL "HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1" - no_errors PTPRU 10076 broad.mit.edu 36 1 29504461 29504461 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 29504461 29504461 C A SNP PTPRU NM_005704 human genbank 54_36p 1 reviewed missense c.2784 p.H928Q 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors NKAIN1 79570 broad.mit.edu 36 1 31427293 31427293 + Splice_Site SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31427293 31427293 C G SNP NKAIN1 NM_024522 human genbank 54_36p -1 provisional splice_site c.482+1 e5+1 1 - - - no_errors FABP3 2170 broad.mit.edu 36 1 31618432 31618432 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 31618432 31618432 A C SNP FABP3 NM_004102 human genbank 54_36p -1 reviewed missense c.17 p.L6R 0 "HMMPfam_Lipocalin,superfamily_Lipocalins" "PatternScan_FABP,HMMPfam_Lipocalin,superfamily_Lipocalins" - no_errors SERINC2 347735 broad.mit.edu 36 1 31674871 31674871 + Silent SNP C C T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 31674871 31674871 C T SNP SERINC2 NM_178865 human genbank 54_36p 1 validated silent c.912 p.N304 0 HMMPfam_Serinc HMMPfam_Serinc - no_errors COL16A1 1307 broad.mit.edu 36 1 31890972 31890972 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31890972 31890972 C A SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed missense c.4682 p.G1561V 1 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL16A1 1307 broad.mit.edu 36 1 31898820 31898820 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31898820 31898820 G A SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed missense c.3832 p.P1278S 1 HMMPfam_Collagen "HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors COL16A1 1307 broad.mit.edu 36 1 31929813 31929813 + Silent SNP G G T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31929813 31929813 G T SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed silent c.1275 p.I425 1 HMMPfam_Collagen "HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors COL16A1 1307 broad.mit.edu 36 1 31936148 31936148 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31936148 31936148 C A SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed missense c.603 p.R201S 0 "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases" "HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors COL16A1 1307 broad.mit.edu 36 1 31938013 31938013 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31938013 31938013 G T SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed missense c.254 p.T85N 0.77 HMMSmart_SM00210 "HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors BAI2 576 broad.mit.edu 36 1 31969150 31969150 + Silent SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 31969150 31969150 C T SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed silent c.4218 p.L1406 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors BAI2 576 broad.mit.edu 36 1 31974808 31974808 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 31974808 31974808 C G SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.3083 p.R1028P 0.98 HMMPfam_7tm_2 "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors BAI2 576 broad.mit.edu 36 1 31978222 31978222 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 31978222 31978222 C T SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.2059 p.V687M 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors BAI2 576 broad.mit.edu 36 1 31979906 31979906 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 31979906 31979906 A C SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.1593 p.H531Q 0.96 "HMMPfam_HRM,HMMSmart_SM00008" "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors BAI2 576 broad.mit.edu 36 1 31994493 31994493 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 31994493 31994493 G T SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.532 p.L178I 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors SPOCD1 90853 broad.mit.edu 36 1 32052195 32052195 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32052195 32052195 C G SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.1327 p.D443H 0.06 NULL "superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510,HMMPfam_TFIIS_M,HMMPfam_SPOC" - no_errors SPOCD1 90853 broad.mit.edu 36 1 32053345 32053345 + Silent SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 32053345 32053345 G T SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional silent c.177 p.I59 0 NULL "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors KHDRBS1 10657 broad.mit.edu 36 1 32276782 32276782 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32276782 32276782 G A SNP KHDRBS1 NM_006559 human genbank 54_36p 1 provisional missense c.1150 p.E384K 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1" - no_errors TMEM39B 55116 broad.mit.edu 36 1 32333107 32333107 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 32333107 32333107 G C SNP TMEM39B NM_018056 human genbank 54_36p 1 validated missense c.682 p.G228R 1 HMMPfam_Tmp39 HMMPfam_Tmp39 - no_errors CCDC28B 79140 broad.mit.edu 36 1 32440214 32440214 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 32440214 32440214 A C SNP CCDC28B NM_024296 human genbank 54_36p 1 reviewed missense c.91 p.T31P 1 NULL NULL - no_errors IQCC 55721 broad.mit.edu 36 1 32444397 32444397 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32444397 32444397 A T SNP IQCC NM_018134 human genbank 54_36p 1 provisional missense c.98 p.Y33F 1 NULL HMMPfam_IQ - no_errors IQCC 55721 broad.mit.edu 36 1 32445218 32445218 + Silent SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32445218 32445218 C T SNP IQCC NM_018134 human genbank 54_36p 1 provisional silent c.468 p.S156 0.08 NULL HMMPfam_IQ - no_errors IQCC 55721 broad.mit.edu 36 1 32445780 32445780 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32445780 32445780 A T SNP IQCC NM_018134 human genbank 54_36p 1 provisional missense c.911 p.D304V 0 NULL HMMPfam_IQ - no_errors EIF3I 8668 broad.mit.edu 36 1 32460735 32460735 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32460735 32460735 C G SNP EIF3I NM_003757 human genbank 54_36p 1 validated missense c.13 p.L5V 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FAM167B 84734 broad.mit.edu 36 1 32485670 32485670 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32485670 32485670 G T SNP FAM167B NM_032648 human genbank 54_36p 1 validated missense c.61 p.G21W 1 NULL NULL - no_errors FAM167B 84734 broad.mit.edu 36 1 32486679 32486684 + In_Frame_Del DEL GAGCTG - GAGCTG novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 GAGCTG GAGCTG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 32486679 32486684 GAGCTG - DEL FAM167B NM_032648 human genbank 54_36p 1 validated in_frame_del c.382_387 p.LE131in_frame_del 1.000:1.000:0.999:1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[32486559,32486789])" no_errors LCK 3932 broad.mit.edu 36 1 32518373 32518373 + Silent SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32518373 32518373 C T SNP LCK NM_001042771 human genbank 54_36p 1 reviewed silent c.1302 p.V434 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors HDAC1 3065 broad.mit.edu 36 1 32540833 32540833 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 32540833 32540833 G C SNP HDAC1 NM_004964 human genbank 54_36p 1 reviewed missense c.74 p.G25A 1 superfamily_Arginase/deacetylase "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" - no_errors SYNC 81493 broad.mit.edu 36 1 32933141 32933141 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 32933141 32933141 G A SNP SYNC NM_030786 human genbank 54_36p -1 validated missense c.152 p.A51V 0.99 NULL NULL - no_errors KIAA1522 57648 broad.mit.edu 36 1 33008802 33008802 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 33008802 33008802 C T SNP KIAA1522 NM_020888 human genbank 54_36p 1 validated missense c.1435 p.R479W 0.36 NULL NULL - no_errors KIAA1522 57648 broad.mit.edu 36 1 33008825 33008825 + Silent SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 33008825 33008825 C A SNP KIAA1522 NM_020888 human genbank 54_36p 1 validated silent c.1458 p.G486 0.07 NULL NULL - no_errors HPCA 3208 broad.mit.edu 36 1 33127266 33127266 + Silent SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 33127266 33127266 C T SNP HPCA NM_002143 human genbank 54_36p 1 reviewed silent c.180 p.D60 1 superfamily_EF-hand "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors HPCA 3208 broad.mit.edu 36 1 33127444 33127444 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 33127444 33127444 G C SNP HPCA NM_002143 human genbank 54_36p 1 reviewed missense c.358 p.E120Q 1 "HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" "HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" - no_errors ADC 113451 broad.mit.edu 36 1 33322260 33322260 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 33322260 33322260 C G SNP ADC NM_052998 human genbank 54_36p 1 validated missense c.224 p.P75R 0.01 "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1" "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC" - no_errors PHC2 1912 broad.mit.edu 36 1 33567230 33567230 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 33567230 33567230 C G SNP PHC2 NM_198040 human genbank 54_36p -1 reviewed missense c.2250 p.L750F 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors CSMD2 114784 broad.mit.edu 36 1 33771391 33771391 + Silent SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 33771391 33771391 C T SNP CSMD2 NM_052896 human genbank 54_36p -1 validated silent c.9585 p.T3195 0.99 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC" - no_errors CSMD2 114784 broad.mit.edu 36 1 33843510 33843510 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 33843510 33843510 C A SNP CSMD2 NM_052896 human genbank 54_36p -1 validated missense c.6497 p.G2166V 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC,superfamily_Complement control module/SCR domain" - no_errors CSMD2 114784 broad.mit.edu 36 1 33849271 33849271 + Silent SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 33849271 33849271 G A SNP CSMD2 NM_052896 human genbank 54_36p -1 validated silent c.6180 p.S2060 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC,superfamily_Complement control module/SCR domain" - no_errors CSMD2 114784 broad.mit.edu 36 1 33901210 33901210 + Silent SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 33901210 33901210 C T SNP CSMD2 NM_052896 human genbank 54_36p -1 validated silent c.4002 p.E1334 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC,superfamily_Complement control module/SCR domain" - no_errors CSMD2 114784 broad.mit.edu 36 1 33901272 33901272 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 33901272 33901272 A T SNP CSMD2 NM_052896 human genbank 54_36p -1 validated missense c.3940 p.F1314I 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC,superfamily_Complement control module/SCR domain" - no_errors CSMD2 114784 broad.mit.edu 36 1 33937113 33937113 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 33937113 33937113 C A SNP CSMD2 NM_052896 human genbank 54_36p -1 validated missense c.3632 p.C1211F 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC,superfamily_Complement control module/SCR domain" - no_errors CSMD2 114784 broad.mit.edu 36 1 34270780 34270780 + Splice_Site SNP A A C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 34270780 34270780 A C SNP CSMD2 NM_052896 human genbank 54_36p -1 validated splice_site c.397+2 e3+2 1 - - - no_errors GJB4 127534 broad.mit.edu 36 1 34999784 34999784 + Silent SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 34999784 34999784 G A SNP GJB4 NM_153212 human genbank 54_36p 1 validated silent c.342 p.P114 0 HMMPfam_Connexin "HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors DLGAP3 58512 broad.mit.edu 36 1 35107237 35107237 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 35107237 35107237 C T SNP DLGAP3 NM_001080418 human genbank 54_36p -1 provisional missense c.2041 p.V681M 1 HMMPfam_GKAP HMMPfam_GKAP - no_errors DLGAP3 58512 broad.mit.edu 36 1 35143560 35143560 + Silent SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 35143560 35143560 G A SNP DLGAP3 NM_001080418 human genbank 54_36p -1 provisional silent c.12 p.Y4 1 NULL HMMPfam_GKAP - no_errors ZMYM6 9204 broad.mit.edu 36 1 35225435 35225437 + In_Frame_Del DEL AAA - AAA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 AAA AAA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 35225435 35225437 AAA - DEL ZMYM6 NM_007167 human genbank 54_36p -1 validated in_frame_del c.3835_3833 p.F1278in_frame_del 1.000:1.000:1.000 NULL "HMMPfam_zf-FCS,HMMSmart_SM00746" "(deletion:cds_exon[35225292,35227123])" no_errors ZMYM6 9204 broad.mit.edu 36 1 35253011 35253011 + Silent SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 35253011 35253011 T C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated silent c.669 p.K223 1 "HMMPfam_zf-FCS,HMMSmart_SM00746" "HMMPfam_zf-FCS,HMMSmart_SM00746" - no_errors ZMYM4 9202 broad.mit.edu 36 1 35625678 35625678 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 35625678 35625678 G A SNP ZMYM4 NM_005095 human genbank 54_36p 1 validated missense c.2149 p.D717N 1 "HMMPfam_zf-FCS,HMMSmart_SM00746" "HMMPfam_zf-FCS,HMMSmart_SM00746,PatternScan_GLYCO_HORMONE_BETA_1" - no_errors CLSPN 63967 broad.mit.edu 36 1 35974712 35974712 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 35974712 35974712 C T SNP CLSPN NM_022111 human genbank 54_36p -1 reviewed missense c.3992 p.R1331Q 0.78 NULL NULL - no_errors EIF2C4 192670 broad.mit.edu 36 1 36064236 36064236 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36064236 36064236 A G SNP EIF2C4 NM_017629 human genbank 54_36p 1 reviewed missense c.748 p.K250E 1 "superfamily_PAZ domain,HMMPfam_PAZ" "superfamily_PAZ domain,HMMPfam_DUF1785,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi" - no_errors EIF2C1 26523 broad.mit.edu 36 1 36140247 36140247 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36140247 36140247 T C SNP EIF2C1 NM_012199 human genbank 54_36p 1 reviewed missense c.1252 p.Y418H 1 NULL "superfamily_PAZ domain,HMMPfam_DUF1785,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi" - no_errors MAP7D1 55700 broad.mit.edu 36 1 36414442 36414442 + Silent SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 36414442 36414442 G A SNP MAP7D1 NM_018067 human genbank 54_36p 1 provisional silent c.906 p.T302 1 NULL HMMPfam_MAP7 - no_errors MAP7D1 55700 broad.mit.edu 36 1 36418125 36418125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36418125 36418125 G C SNP MAP7D1 NM_018067 human genbank 54_36p 1 provisional missense c.2385 p.Q795H 1 NULL HMMPfam_MAP7 - no_errors MAP7D1 55700 broad.mit.edu 36 1 36418127 36418127 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 36418127 36418127 A G SNP MAP7D1 NM_018067 human genbank 54_36p 1 provisional missense c.2387 p.E796G 1 NULL HMMPfam_MAP7 - no_errors THRAP3 9967 broad.mit.edu 36 1 36525163 36525163 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 36525163 36525163 C G SNP THRAP3 NM_005119 human genbank 54_36p 1 validated missense c.745 p.P249A 1 NULL NULL - no_errors THRAP3 9967 broad.mit.edu 36 1 36527639 36527639 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36527639 36527639 C A SNP THRAP3 NM_005119 human genbank 54_36p 1 validated missense c.1432 p.P478T 0 NULL NULL - no_errors THRAP3 9967 broad.mit.edu 36 1 36530793 36530793 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36530793 36530793 C A SNP THRAP3 NM_005119 human genbank 54_36p 1 validated missense c.1926 p.H642Q 1 NULL NULL - no_errors STK40 83931 broad.mit.edu 36 1 36586901 36586901 + Silent SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36586901 36586901 G A SNP STK40 NM_032017 human genbank 54_36p -1 provisional silent c.726 p.P242 0.2 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors OSCP1 127700 broad.mit.edu 36 1 36660987 36660987 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 36660987 36660987 C T SNP C1orf102 NM_145047 human genbank 54_36p -1 validated missense c.748 p.G250R 1 NULL HMMPfam_Oscp1 - no_errors MRPS15 64960 broad.mit.edu 36 1 36694499 36694499 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 36694499 36694499 C T SNP MRPS15 NM_031280 human genbank 54_36p -1 reviewed missense c.512 p.R171H 0.99 "superfamily_S15/NS1 RNA-binding domain,HMMPfam_Ribosomal_S15" "superfamily_S15/NS1 RNA-binding domain,HMMPfam_Ribosomal_S15" - no_errors CSF3R 1441 broad.mit.edu 36 1 36709817 36709817 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 36709817 36709817 T A SNP CSF3R NM_156039 human genbank 54_36p -1 reviewed missense c.1089 p.E363D 0 "superfamily_FN_III-like,HMMSmart_FN3" "HMMPfam_Lep_receptor_Ig,superfamily_FN_III-like,HMMSmart_FN3,PatternScan_HEMATOPO_REC_L_F2,HMMPfam_fn3" - no_errors GRIK3 2899 broad.mit.edu 36 1 37118979 37118979 + Silent SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 37118979 37118979 G A SNP GRIK3 NM_000831 human genbank 54_36p -1 reviewed silent c.393 p.P131 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,superfamily_SSF55620" - no_errors GRIK3 2899 broad.mit.edu 36 1 37119018 37119018 + Silent SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 37119018 37119018 G A SNP GRIK3 NM_000831 human genbank 54_36p -1 reviewed silent c.354 p.T118 1 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850,superfamily_SSF55620" - no_errors GRIK3 2899 broad.mit.edu 36 1 37129116 37129116 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 37129116 37129116 G C SNP GRIK3 NM_000831 human genbank 54_36p -1 reviewed missense c.284 p.T95S 1 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850,superfamily_SSF55620" - no_errors GRIK3 2899 broad.mit.edu 36 1 37129210 37129211 + Missense_Mutation DNP CA CA AG novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 37129210 37129211 CA AG DNP GRIK3 NM_000831 human genbank 54_36p -1 reviewed missense c.190_189 p.A64S 1.000:1.000 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850,superfamily_SSF55620" - no_errors ZC3H12A 80149 broad.mit.edu 36 1 37718539 37718539 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 37718539 37718539 G A SNP ZC3H12A NM_025079 human genbank 54_36p 1 validated missense c.505 p.E169K 1 NULL NULL - no_errors ZC3H12A 80149 broad.mit.edu 36 1 37721663 37721663 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 37721663 37721663 G A SNP ZC3H12A NM_025079 human genbank 54_36p 1 validated missense c.1664 p.S555N 0.35 NULL NULL - no_errors SNIP1 79753 broad.mit.edu 36 1 37792280 37792280 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 37792280 37792280 C T SNP SNIP1 NM_024700 human genbank 54_36p -1 provisional silent c.138 p.P46 0.01 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA" - no_errors GNL2 29889 broad.mit.edu 36 1 37812874 37812874 + Silent SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 37812874 37812874 G A SNP GNL2 NM_013285 human genbank 54_36p -1 validated silent c.1281 p.F427 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_NGP1NT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1" - no_errors EPHA10 284656 broad.mit.edu 36 1 37958608 37958609 + Splice_Site DNP AC AC CT novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 37958608 37958609 AC CT DNP EPHA10 NM_001099439 human genbank 54_36p -1 validated splice_site c.2412+1_2412+1 e13+1 1.000:1.000 - - - no_errors MTF1 4520 broad.mit.edu 36 1 38078292 38078292 + Silent SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 38078292 38078292 G A SNP MTF1 NM_005955 human genbank 54_36p -1 reviewed silent c.534 p.G178 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RRAGC 64121 broad.mit.edu 36 1 39094114 39094114 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 39094114 39094114 T C SNP RRAGC NM_022157 human genbank 54_36p -1 provisional missense c.494 p.Y165C 1 "superfamily_SSF52540,HMMPfam_Gtr1_RagA" "superfamily_SSF52540,HMMPfam_Gtr1_RagA" - no_errors MACF1 23499 broad.mit.edu 36 1 39570443 39570443 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 39570443 39570443 C G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.916 p.L306V 0.92 "superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin" "superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2" - no_errors MACF1 23499 broad.mit.edu 36 1 39571992 39571992 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 39571992 39571992 G A SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.2465 p.C822Y 0.89 "HMMPfam_Plectin,HMMSmart_PLEC,superfamily_SSF75399" "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MACF1 23499 broad.mit.edu 36 1 39579069 39579069 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 39579069 39579069 G C SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.5758 p.V1920L 0.48 NULL "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MACF1 23499 broad.mit.edu 36 1 39599810 39599810 + Silent SNP A A G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 39599810 39599810 A G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed silent c.7965 p.L2655 1 NULL "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MACF1 23499 broad.mit.edu 36 1 39626441 39626441 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 39626441 39626441 A T SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.10660 p.M3554L 0.76 superfamily_Spectrin "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MACF1 23499 broad.mit.edu 36 1 39626601 39626601 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 39626601 39626601 A G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.10820 p.N3607S 0.26 "HMMSmart_SPEC,superfamily_Spectrin" "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors KIAA0754 643314 broad.mit.edu 36 1 39649926 39649926 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 39649926 39649926 C T SNP KIAA0754 NM_015038 human genbank 54_36p 1 predicted missense c.1402 p.L468F 1 NULL NULL - no_errors KIAA0754 643314 broad.mit.edu 36 1 39651979 39651979 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 39651979 39651979 C T SNP KIAA0754 NM_015038 human genbank 54_36p 1 predicted missense c.3455 p.T1152I 0 NULL NULL - no_errors MACF1 23499 broad.mit.edu 36 1 39672880 39672880 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 39672880 39672880 G C SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.13093 p.E4365Q 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors MACF1 23499 broad.mit.edu 36 1 39689404 39689404 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 39689404 39689404 G A SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed silent c.15681 p.Q5227 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_EFh,HMMPfam_GAS2,HMMSmart_GAS2,PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SPEC,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin,superfamily_SSF47473,superfamily_SSF75399" - no_errors HEYL 26508 broad.mit.edu 36 1 39877855 39877855 + Silent SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 39877855 39877855 G A SNP HEYL NM_014571 human genbank 54_36p -1 reviewed silent c.30 p.S10 1 NULL "HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH,HMMSmart_ORANGE,HMMPfam_Hairy_orange" - no_errors NT5C1A 84618 broad.mit.edu 36 1 39899355 39899355 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 39899355 39899355 T C SNP NT5C1A NM_032526 human genbank 54_36p -1 provisional missense c.724 p.N242D 1 HMMPfam_5-nucleotidase HMMPfam_5-nucleotidase - no_errors NT5C1A 84618 broad.mit.edu 36 1 39899461 39899461 + Silent SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 39899461 39899461 C T SNP NT5C1A NM_032526 human genbank 54_36p -1 provisional silent c.618 p.L206 1 HMMPfam_5-nucleotidase HMMPfam_5-nucleotidase - no_errors TRIT1 54802 broad.mit.edu 36 1 40088471 40088471 + Frame_Shift_Del DEL G - G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 40088471 40088471 G - DEL TRIT1 NM_017646 human genbank 54_36p -1 validated frame_shift_del c.610 p.H204fs 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IPPT" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IPPT,HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[40088378,40088520])" no_errors TRIT1 54802 broad.mit.edu 36 1 40091117 40091117 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 40091117 40091117 C T SNP TRIT1 NM_017646 human genbank 54_36p -1 validated missense c.433 p.E145K 0.01 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IPPT" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IPPT,HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MFSD2A 84879 broad.mit.edu 36 1 40207006 40207006 + Splice_Site SNP T T G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 40207006 40207006 T G SNP MFSD2 NM_032793 human genbank 54_36p 1 validated splice_site c.1529+2 e13+2 1 - - - no_errors RLF 6018 broad.mit.edu 36 1 40399896 40399896 + Splice_Site SNP G G T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 40399896 40399896 G T SNP RLF NM_012421 human genbank 54_36p 1 validated splice_site c.237+1 e1+1 1 - - - no_errors RLF 6018 broad.mit.edu 36 1 40476178 40476178 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 40476178 40476178 A G SNP RLF NM_012421 human genbank 54_36p 1 validated missense c.3217 p.K1073E 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,superfamily_SSF57667" - no_errors TMCO2 127391 broad.mit.edu 36 1 40489833 40489833 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 40489833 40489833 G C SNP TMCO2 NM_001008740 human genbank 54_36p 1 validated missense c.529 p.G177R 1 NULL NULL - no_errors COL9A2 1298 broad.mit.edu 36 1 40544415 40544432 + In_Frame_Del DEL CCTCCTTTTGTCCCAGGC - CCTCCTTTTGTCCCAGGC novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W CCTCCTTTTGTCCCAGGC CCTCCTTTTGTCCCAGGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 40544415 40544432 CCTCCTTTTGTCCCAGGC - DEL COL9A2 NM_001852 human genbank 54_36p -1 reviewed in_frame_del c.1040_1023 p.QPGTKGG341in_frame_delH 0.998:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.998:1.000:1.000:0.975 NULL HMMPfam_Collagen "(deletion:cds_exon[40544402,40544446])" no_errors COL9A2 1298 broad.mit.edu 36 1 40549971 40549971 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 40549971 40549971 C T SNP COL9A2 NM_001852 human genbank 54_36p -1 reviewed missense c.421 p.D141N 0.28 HMMPfam_Collagen HMMPfam_Collagen - no_errors SMAP2 64744 broad.mit.edu 36 1 40651355 40651355 + Silent SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 40651355 40651355 G A SNP SMAP2 NM_022733 human genbank 54_36p 1 provisional silent c.483 p.V161 1 NULL "superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105" - no_errors ZNF643 65243 broad.mit.edu 36 1 40695662 40695662 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 40695662 40695662 C G SNP ZNF643 NM_023070 human genbank 54_36p 1 provisional missense c.94 p.L32V 0.05 HMMSmart_KRAB "superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF643 65243 broad.mit.edu 36 1 40701834 40701834 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 40701834 40701834 A G SNP ZNF643 NM_023070 human genbank 54_36p 1 provisional missense c.1285 p.S429G 0 NULL "HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors HIVEP3 59269 broad.mit.edu 36 1 41818545 41818545 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 41818545 41818545 G A SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.4511 p.S1504L 0.12 NULL "PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors HIVEP3 59269 broad.mit.edu 36 1 41821633 41821633 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 41821633 41821633 C T SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.1423 p.V475M 1 NULL "PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors HIVEP3 59269 broad.mit.edu 36 1 41822050 41822050 + Nonsense_Mutation SNP C C A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 41822050 41822050 C A SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated nonsense c.1006 p.E336* 0.99 NULL "PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors FOXJ3 22887 broad.mit.edu 36 1 42444044 42444044 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 42444044 42444044 C T SNP FOXJ3 NM_014947 human genbank 54_36p -1 validated silent c.606 p.L202 1 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors FOXJ3 22887 broad.mit.edu 36 1 42466212 42466212 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 42466212 42466212 C A SNP FOXJ3 NM_014947 human genbank 54_36p -1 validated missense c.457 p.A153S 1 "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain" "HMMPfam_Fork_head,HMMSmart_SM00339,PatternScan_FORK_HEAD_1,PatternScan_FORK_HEAD_2,superfamily_Winged helix DNA-binding domain" - no_errors ZMYND12 84217 broad.mit.edu 36 1 42688283 42688283 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 42688283 42688283 T G SNP ZMYND12 NM_032257 human genbank 54_36p -1 provisional missense c.145 p.I49L 1 "PatternScan_ZF_MYND_1,HMMPfam_zf-MYND" "PatternScan_ZF_MYND_1,HMMPfam_zf-MYND,superfamily_TPR-like" - no_errors CCDC30 728621 broad.mit.edu 36 1 42883054 42883054 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 42883054 42883054 C T SNP LOC728621 NM_001080850 human genbank 54_36p 1 validated missense c.1879 p.R627C 0.01 NULL NULL - no_errors YBX1 4904 broad.mit.edu 36 1 42921706 42921706 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 42921706 42921706 G T SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.212 p.G71V 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357" "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK" - no_errors LEPRE1 64175 broad.mit.edu 36 1 42986028 42986028 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 42986028 42986028 C T SNP LEPRE1 NM_022356 human genbank 54_36p -1 reviewed missense c.1867 p.D623N 1 "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" "superfamily_SSF48452,HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" - no_errors LEPRE1 64175 broad.mit.edu 36 1 42993203 42993203 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 42993203 42993203 G T SNP LEPRE1 NM_022356 human genbank 54_36p -1 reviewed missense c.1269 p.N423K 1 NULL "HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc,superfamily_SSF48452" - no_errors LEPRE1 64175 broad.mit.edu 36 1 43004891 43004891 + Silent SNP A A T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 43004891 43004891 A T SNP LEPRE1 NM_022356 human genbank 54_36p -1 reviewed silent c.339 p.L113 1 superfamily_SSF48452 "HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc,superfamily_SSF48452" - no_errors C1orf50 79078 broad.mit.edu 36 1 43013004 43013004 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43013004 43013004 G T SNP C1orf50 NM_024097 human genbank 54_36p 1 predicted missense c.292 p.D98Y 1 HMMPfam_DUF2452 HMMPfam_DUF2452 - no_errors ERMAP 114625 broad.mit.edu 36 1 43080955 43080955 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43080955 43080955 A T SNP ERMAP NM_001017922 human genbank 54_36p 1 reviewed missense c.893 p.Y298F 0.07 "HMMPfam_SPRY,HMMSmart_SPRY" "HMMSmart_IG,superfamily_SSF48726,HMMPfam_V-set,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors FAM183A 440585 broad.mit.edu 36 1 43394541 43394541 + Silent SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43394541 43394541 G A SNP FAM183A NM_001101376 human genbank 54_36p 1 validated silent c.375 p.T125 0.99 NULL NULL - no_errors TIE1 7075 broad.mit.edu 36 1 43545181 43545181 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 43545181 43545181 A T SNP TIE1 NM_005424 human genbank 54_36p 1 provisional missense c.568 p.S190C 0.12 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" ############################################################################################################################################################################################################################################################### - no_errors TIE1 7075 broad.mit.edu 36 1 43559540 43559540 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 43559540 43559540 G T SNP TIE1 NM_005424 human genbank 54_36p 1 provisional missense c.3121 p.V1041F 1 "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like" ############################################################################################################################################################################################################################################################### - no_errors KIAA0467 23334 broad.mit.edu 36 1 43671326 43671326 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43671326 43671326 G A SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted silent c.2985 p.R995 0.96 NULL NULL - no_errors KIAA0467 23334 broad.mit.edu 36 1 43686214 43686214 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43686214 43686214 A T SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted missense c.6851 p.E2284V 1 NULL NULL - no_errors PTPRF 5792 broad.mit.edu 36 1 43817146 43817146 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 43817146 43817146 G A SNP PTPRF NM_002840 human genbank 54_36p 1 reviewed missense c.647 p.R216H 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409" ############################################################################################################################################################################################################################################################### - no_errors PTPRF 5792 broad.mit.edu 36 1 43847746 43847746 + Nonsense_Mutation SNP C C G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43847746 43847746 C G SNP PTPRF NM_002840 human genbank 54_36p 1 reviewed nonsense c.3963 p.Y1321* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PTPRF 5792 broad.mit.edu 36 1 43858402 43858402 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 43858402 43858402 G C SNP PTPRF NM_002840 human genbank 54_36p 1 reviewed missense c.5161 p.E1721Q 1 "HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" ############################################################################################################################################################################################################################################################### - no_errors ST3GAL3 6487 broad.mit.edu 36 1 44132700 44132700 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44132700 44132700 C T SNP ST3GAL3 NM_174963 human genbank 54_36p 1 reviewed missense c.568 p.R190W 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors ST3GAL3 6487 broad.mit.edu 36 1 44168413 44168413 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44168413 44168413 G A SNP ST3GAL3 NM_174963 human genbank 54_36p 1 reviewed missense c.1268 p.R423Q 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors IPO13 9670 broad.mit.edu 36 1 44196337 44196337 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 44196337 44196337 G A SNP IPO13 NM_014652 human genbank 54_36p 1 reviewed missense c.1642 p.V548M 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_Xpo1" - no_errors DPH2 1802 broad.mit.edu 36 1 44210323 44210323 + Silent SNP T T C novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44210323 44210323 T C SNP DPH2 NM_001384 human genbank 54_36p 1 reviewed silent c.1162 p.L388 0.82 NULL HMMPfam_Diphthamide_syn - no_errors SLC6A9 6536 broad.mit.edu 36 1 44236171 44236171 + Silent SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 44236171 44236171 G A SNP SLC6A9 NM_201649 human genbank 54_36p -1 validated silent c.1869 p.C623 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors KLF17 128209 broad.mit.edu 36 1 44367741 44367741 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 44367741 44367741 C A SNP KLF17 NM_173484 human genbank 54_36p 1 validated missense c.211 p.P71T 0 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors KLF17 128209 broad.mit.edu 36 1 44368256 44368256 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44368256 44368256 G T SNP KLF17 NM_173484 human genbank 54_36p 1 validated missense c.726 p.Q242H 0 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ERI3 79033 broad.mit.edu 36 1 44551427 44551427 + Splice_Site SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44551427 44551427 C G SNP ERI3 NM_024066 human genbank 54_36p -1 validated splice_site c.666+1 e5+1 1 - - - no_errors ERI3 79033 broad.mit.edu 36 1 44577347 44577347 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44577347 44577347 A G SNP ERI3 NM_024066 human genbank 54_36p -1 validated missense c.446 p.L149P 1 "superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T" "superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T" - no_errors TMEM53 79639 broad.mit.edu 36 1 44892896 44892896 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44892896 44892896 G A SNP TMEM53 NM_024587 human genbank 54_36p -1 provisional silent c.756 p.H252 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_DUF829" "superfamily_alpha/beta-Hydrolases,HMMPfam_DUF829" - no_errors TMEM53 79639 broad.mit.edu 36 1 44893252 44893252 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 44893252 44893252 G T SNP TMEM53 NM_024587 human genbank 54_36p -1 provisional missense c.400 p.R134S 1 "HMMPfam_DUF829,superfamily_alpha/beta-Hydrolases" "HMMPfam_DUF829,superfamily_alpha/beta-Hydrolases" - no_errors KIF2C 11004 broad.mit.edu 36 1 44985645 44985645 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 44985645 44985645 T G SNP KIF2C NM_006845 human genbank 54_36p 1 validated missense c.168 p.I56M 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors RPS8 6202 broad.mit.edu 36 1 45016021 45016021 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45016021 45016021 C T SNP RPS8 NM_001012 human genbank 54_36p 1 reviewed silent c.360 p.P120 1 HMMPfam_Ribosomal_S8e "HMMPfam_Ribosomal_S8e,PatternScan_RIBOSOMAL_S8E" - no_errors RPS8 6202 broad.mit.edu 36 1 45016024 45016024 + Silent SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 45016024 45016024 G T SNP RPS8 NM_001012 human genbank 54_36p 1 reviewed silent c.363 p.L121 1 HMMPfam_Ribosomal_S8e "HMMPfam_Ribosomal_S8e,PatternScan_RIBOSOMAL_S8E" - no_errors BEST4 266675 broad.mit.edu 36 1 45023441 45023441 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45023441 45023441 C G SNP BEST4 NM_153274 human genbank 54_36p -1 reviewed missense c.838 p.A280P 0 HMMPfam_Bestrophin HMMPfam_Bestrophin - no_errors EIF2B3 8891 broad.mit.edu 36 1 45113910 45113910 + Silent SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45113910 45113910 G C SNP EIF2B3 NM_020365 human genbank 54_36p -1 validated silent c.1020 p.V340 0.73 "superfamily_Nucleotide-diphospho-sugar transferases,superfamily_Trimeric LpxA-like enzymes" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_NTP_transferase,superfamily_Trimeric LpxA-like enzymes" - no_errors HECTD3 79654 broad.mit.edu 36 1 45247932 45247932 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45247932 45247932 T C SNP HECTD3 NM_024602 human genbank 54_36p -1 validated missense c.770 p.N257S 1 "superfamily_Galactose-binding domain-like,HMMPfam_APC10" "superfamily_Galactose-binding domain-like,HMMPfam_APC10,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_HECT" - no_errors CCDC163P 126661 broad.mit.edu 36 1 45737794 45737794 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45737794 45737794 A T SNP LOC126661 NM_001102601 human genbank 54_36p -1 predicted missense c.75 p.N25K 1 NULL NULL - no_errors NASP 4678 broad.mit.edu 36 1 45853636 45853636 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 45853636 45853636 A G SNP NASP NM_172164 human genbank 54_36p 1 reviewed missense c.1934 p.K645R 1 NULL "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMPfam_SHNi-TPR" - no_errors CCDC17 149483 broad.mit.edu 36 1 45859040 45859040 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45859040 45859040 A G SNP CCDC17 ENST00000343901 human ensembl 54_36p -1 known missense c.1556 p.V519A 0.11 NULL NULL - no_errors CCDC17 149483 broad.mit.edu 36 1 45861055 45861055 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 45861055 45861055 G T SNP CCDC17 ENST00000343901 human ensembl 54_36p -1 known missense c.599 p.S200Y 0 NULL NULL - no_errors GPBP1L1 60313 broad.mit.edu 36 1 45892901 45892901 + Silent SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45892901 45892901 G A SNP GPBP1L1 NM_021639 human genbank 54_36p -1 validated silent c.378 p.S126 1 NULL NULL - no_errors TMEM69 51249 broad.mit.edu 36 1 45932007 45932007 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45932007 45932007 C T SNP TMEM69 NM_016486 human genbank 54_36p 1 validated missense c.587 p.A196V 1 NULL NULL - no_errors IPP 3652 broad.mit.edu 36 1 45952625 45952625 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 45952625 45952625 T C SNP IPP NM_005897 human genbank 54_36p -1 reviewed missense c.1411 p.M471V 1 "HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors MAST2 23139 broad.mit.edu 36 1 46062785 46062785 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 46062785 46062785 C G SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.271 p.L91V 1 NULL "HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" - no_errors MAST2 23139 broad.mit.edu 36 1 46262069 46262069 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 46262069 46262069 G A SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.1610 p.R537H 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors POMGNT1 55624 broad.mit.edu 36 1 46431602 46431602 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 46431602 46431602 G C SNP POMGNT1 NM_017739 human genbank 54_36p -1 reviewed missense c.1072 p.H358D 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_GNT-I" - no_errors LRRC41 10489 broad.mit.edu 36 1 46517267 46517267 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 46517267 46517267 G A SNP LRRC41 NM_006369 human genbank 54_36p -1 validated missense c.2296 p.H766Y 1 superfamily_RNI-like "superfamily_RNI-like,HMMSmart_SM00368" - no_errors LRRC41 10489 broad.mit.edu 36 1 46524584 46524584 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 46524584 46524584 C T SNP LRRC41 NM_006369 human genbank 54_36p -1 validated missense c.532 p.E178K 0.98 NULL "HMMSmart_SM00368,superfamily_RNI-like" - no_errors KNCN 148930 broad.mit.edu 36 1 46789436 46789436 + Silent SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 46789436 46789436 C A SNP KNCN NM_001097611 human genbank 54_36p -1 provisional silent c.39 p.L13 1 NULL NULL - no_errors CYP4B1 1580 broad.mit.edu 36 1 47052562 47052562 + Silent SNP C C G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 47052562 47052562 C G SNP CYP4B1 NM_001099772 human genbank 54_36p 1 reviewed silent c.870 p.L290 0.99 "superfamily_Cytochrome_P450,HMMPfam_p450" "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors CYP4A11 1579 broad.mit.edu 36 1 47173847 47173847 + Silent SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 47173847 47173847 G A SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed silent c.570 p.S190 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP4A11 1579 broad.mit.edu 36 1 47175040 47175040 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 47175040 47175040 C G SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.393 p.L131F 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP4A22 284541 broad.mit.edu 36 1 47380453 47380453 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 47380453 47380453 C T SNP CYP4A22 NM_001010969 human genbank 54_36p 1 reviewed missense c.469 p.P157S 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CMPK1 51727 broad.mit.edu 36 1 47611278 47611278 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 47611278 47611278 G T SNP CMPK1 NM_016308 human genbank 54_36p 1 validated missense c.383 p.R128I 1 "superfamily_SSF52540,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE" "superfamily_SSF52540,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE" - no_errors SLC5A9 200010 broad.mit.edu 36 1 48463001 48463001 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 48463001 48463001 C T SNP SLC5A9 NM_001011547 human genbank 54_36p 1 validated nonsense c.160 p.R54* 1 NULL "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors AGBL4 84871 broad.mit.edu 36 1 49283865 49283865 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 49283865 49283865 C T SNP AGBL4 NM_032785 human genbank 54_36p -1 validated missense c.17 p.R6Q 1 "HMMPfam_Peptidase_M14,superfamily_SSF53187" "HMMPfam_Peptidase_M14,superfamily_SSF53187" - no_errors CDKN2C 1031 broad.mit.edu 36 1 51208750 51208750 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 51208750 51208750 C G SNP CDKN2C NM_001262 human genbank 54_36p 1 reviewed missense c.122 p.A41G 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors CDKN2C 1031 broad.mit.edu 36 1 51212213 51212213 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 51212213 51212213 G A SNP CDKN2C NM_001262 human genbank 54_36p 1 reviewed missense c.190 p.D64N 0.96 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors OSBPL9 114883 broad.mit.edu 36 1 51952316 51952316 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 51952316 51952316 C A SNP OSBPL9 NM_148909 human genbank 54_36p 1 reviewed missense c.295 p.L99I 1 "HMMPfam_PH,HMMSmart_PH" "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors CC2D1B 200014 broad.mit.edu 36 1 52595956 52595956 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 52595956 52595956 G A SNP CC2D1B NM_032449 human genbank 54_36p -1 validated missense c.1600 p.R534W 0.03 NULL "HMMSmart_SM00685,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors ORC1 4998 broad.mit.edu 36 1 52631834 52631834 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 52631834 52631834 G C SNP ORC1L NM_004153 human genbank 54_36p -1 reviewed missense c.951 p.I317M 0.06 NULL "HMMPfam_BAH,HMMSmart_BAH,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF46785,HMMPfam_Cdc6_C" - no_errors ZYG11B 79699 broad.mit.edu 36 1 53040373 53040373 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 53040373 53040373 A T SNP ZYG11B NM_024646 human genbank 54_36p 1 validated missense c.1669 p.I557F 1 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_RNI-like" - no_errors SCP2 6342 broad.mit.edu 36 1 53226381 53226381 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 53226381 53226381 C T SNP SCP2 NM_002979 human genbank 54_36p 1 reviewed missense c.1066 p.P356S 1 "HMMPfam_Thiolase_C,superfamily_Thiolase-like,PatternScan_THIOLASE_2" "HMMPfam_Thiolase_N,superfamily_Thiolase-like,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,superfamily_Sterol carrier protein SCP,HMMPfam_SCP2" - no_errors PODN 127435 broad.mit.edu 36 1 53312904 53312904 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 53312904 53312904 A C SNP PODN NM_153703 human genbank 54_36p 1 validated missense c.589 p.N197H 1 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047" - no_errors PODN 127435 broad.mit.edu 36 1 53315557 53315557 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 53315557 53315557 G A SNP PODN NM_153703 human genbank 54_36p 1 validated missense c.833 p.R278H 0.55 superfamily_SSF52058 "HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047,superfamily_SSF52058" - no_errors SLC1A7 6512 broad.mit.edu 36 1 53328074 53328074 + Silent SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 53328074 53328074 G C SNP SLC1A7 NM_006671 human genbank 54_36p -1 validated silent c.1347 p.A449 0.8 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors GLIS1 148979 broad.mit.edu 36 1 53744907 53744908 + Missense_Mutation DNP GT GT TG novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 53744907 53744908 GT TG DNP GLIS1 NM_147193 human genbank 54_36p -1 validated missense c.1836_1835 p.H612P 1.000:1.000 NULL "superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors SSBP3 23648 broad.mit.edu 36 1 54467080 54467080 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 54467080 54467080 A T SNP SSBP3 NM_145716 human genbank 54_36p -1 validated missense c.935 p.M312K 1 HMMPfam_SSDP "HMMSmart_SM00667,HMMPfam_SSDP" - no_errors BSND 7809 broad.mit.edu 36 1 55246503 55246503 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 55246503 55246503 C T SNP BSND NM_057176 human genbank 54_36p 1 reviewed missense c.577 p.P193S 1 NULL NULL - no_errors PCSK9 255738 broad.mit.edu 36 1 55284884 55284884 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 55284884 55284884 G T SNP PCSK9 NM_174936 human genbank 54_36p 1 reviewed missense c.500 p.R167L 0 superfamily_Subtilisin-like "superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8" - no_errors PCSK9 255738 broad.mit.edu 36 1 55299722 55299723 + Missense_Mutation DNP GG GG AA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 55299722 55299723 GG AA DNP PCSK9 NM_174936 human genbank 54_36p 1 reviewed missense c.1768_1769 p.G590N 0.002:0.002 NULL "HMMPfam_Peptidase_S8,superfamily_Subtilisin-like,superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9" - no_errors USP24 23358 broad.mit.edu 36 1 55363661 55363661 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 55363661 55363661 A T SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.3400 p.S1134T 1 NULL "superfamily_Ubiquitin-like,PatternScan_SUGAR_TRANSPORT_1,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP24 23358 broad.mit.edu 36 1 55375897 55375897 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 55375897 55375897 T C SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.2600 p.E867G 1 superfamily_Ubiquitin-like "HMMPfam_UCH,PatternScan_SUGAR_TRANSPORT_1,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like" - no_errors USP24 23358 broad.mit.edu 36 1 55397282 55397282 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 55397282 55397282 G C SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.748 p.P250A 1 NULL "HMMPfam_UCH,PatternScan_SUGAR_TRANSPORT_1,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like" - no_errors PRKAA2 5563 broad.mit.edu 36 1 56912766 56912766 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 56912766 56912766 T A SNP PRKAA2 NM_006252 human genbank 54_36p 1 validated missense c.219 p.H73Q 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PRKAA2 5563 broad.mit.edu 36 1 56945831 56945831 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 56945831 56945831 A G SNP PRKAA2 NM_006252 human genbank 54_36p 1 validated missense c.1516 p.T506A 0.03 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors C1orf168 199920 broad.mit.edu 36 1 56961914 56961914 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 56961914 56961914 T C SNP C1orf168 NM_001004303 human genbank 54_36p -1 validated missense c.1909 p.K637E 0.78 NULL superfamily_SH3-domain - no_errors C1orf168 199920 broad.mit.edu 36 1 56978974 56978974 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 56978974 56978974 A G SNP C1orf168 NM_001004303 human genbank 54_36p -1 validated missense c.1687 p.S563P 0.75 NULL superfamily_SH3-domain - no_errors C8A 731 broad.mit.edu 36 1 57113214 57113214 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 57113214 57113214 G A SNP C8A NM_000562 human genbank 54_36p 1 reviewed missense c.176 p.R59Q 1 "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1" "PatternScan_EGF_2,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,superfamily_SSF57196,PatternScan_EGF_1" - no_errors C8B 732 broad.mit.edu 36 1 57187956 57187956 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 57187956 57187956 G C SNP C8B NM_000066 human genbank 54_36p -1 reviewed missense c.724 p.R242G 0.14 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_SM00457,PatternScan_MAC_PERFORIN,PatternScan_EGF_1" - no_errors DAB1 1600 broad.mit.edu 36 1 57249422 57249422 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 57249422 57249422 C A SNP DAB1 NM_021080 human genbank 54_36p -1 reviewed missense c.1556 p.S519I 1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" - no_errors DAB1 1600 broad.mit.edu 36 1 57253287 57253287 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 57253287 57253287 G T SNP DAB1 NM_021080 human genbank 54_36p -1 reviewed missense c.1301 p.P434H 1 NULL "HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors DAB1 1600 broad.mit.edu 36 1 57253676 57253676 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 57253676 57253676 G A SNP DAB1 NM_021080 human genbank 54_36p -1 reviewed silent c.912 p.G304 1 NULL "HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors C1orf87 127795 broad.mit.edu 36 1 60278292 60278292 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 60278292 60278292 C T SNP C1orf87 NM_152377 human genbank 54_36p -1 predicted missense c.632 p.G211E 1 superfamily_EF-hand superfamily_EF-hand - no_errors TM2D1 83941 broad.mit.edu 36 1 61947587 61947587 + Splice_Site SNP A A C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 61947587 61947587 A C SNP TM2D1 NM_032027 human genbank 54_36p -1 reviewed splice_site c.347+2 e3+2 1 - - - no_errors INADL 10207 broad.mit.edu 36 1 62001353 62001353 + Silent SNP T T C novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 62001353 62001353 T C SNP INADL NM_176877 human genbank 54_36p 1 reviewed silent c.103 p.L35 0.78 "HMMPfam_L27_2,HMMSmart_SM00569,superfamily_L27 domain" "HMMPfam_L27_2,HMMSmart_SM00569,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors INADL 10207 broad.mit.edu 36 1 62004545 62004545 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 62004545 62004545 C T SNP INADL NM_176877 human genbank 54_36p 1 reviewed missense c.196 p.H66Y 0.53 "HMMSmart_SM00569,superfamily_L27 domain" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00569,HMMPfam_L27_2,superfamily_L27 domain" - no_errors L1TD1 54596 broad.mit.edu 36 1 62448356 62448356 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 62448356 62448356 A G SNP L1TD1 NM_019079 human genbank 54_36p 1 validated missense c.1322 p.E441G 0 NULL HMMPfam_Transposase_22 - no_errors KANK4 163782 broad.mit.edu 36 1 62512126 62512126 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 62512126 62512126 A T SNP KANK4 NM_181712 human genbank 54_36p -1 validated missense c.1238 p.M413K 0 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors KANK4 163782 broad.mit.edu 36 1 62513112 62513112 + Silent SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 62513112 62513112 T C SNP KANK4 NM_181712 human genbank 54_36p -1 validated silent c.252 p.A84 0.03 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors DOCK7 85440 broad.mit.edu 36 1 62869514 62869514 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 62869514 62869514 C T SNP DOCK7 NM_033407 human genbank 54_36p -1 validated missense c.1267 p.E423K 1 NULL HMMPfam_Ded_cyto - no_errors ROR1 4919 broad.mit.edu 36 1 64416902 64416902 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 64416902 64416902 A G SNP ROR1 NM_005012 human genbank 54_36p 1 validated missense c.2590 p.S864G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CACHD1 57685 broad.mit.edu 36 1 64919545 64919545 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 64919545 64919545 G A SNP CACHD1 NM_020925 human genbank 54_36p 1 validated missense c.3270 p.M1090I 1 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Cache_1,superfamily_Winged helix DNA-binding domain" - no_errors JAK1 3716 broad.mit.edu 36 1 65095951 65095951 + Silent SNP G G A rs55788790 Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 65095951 65095951 G A SNP JAK1 NM_002227 human genbank 54_36p -1 reviewed silent c.1434 p.T478 0.53 "superfamily_SSF55550,HMMSmart_SH2" "PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors PDE4B 5142 broad.mit.edu 36 1 66601809 66601809 + Silent SNP G G T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 66601809 66601809 G T SNP PDE4B NM_001037341 human genbank 54_36p 1 reviewed silent c.1251 p.S417 0.88 "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I" "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors SGIP1 84251 broad.mit.edu 36 1 66920155 66920155 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 66920155 66920155 C A SNP SGIP1 NM_032291 human genbank 54_36p 1 validated missense c.830 p.A277D 1 NULL HMMPfam_SAFF - no_errors SGIP1 84251 broad.mit.edu 36 1 66927510 66927510 + Silent SNP A A T novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 66927510 66927510 A T SNP SGIP1 NM_032291 human genbank 54_36p 1 validated silent c.1407 p.P469 0.99 NULL HMMPfam_SAFF - no_errors SGIP1 84251 broad.mit.edu 36 1 66978959 66978959 + Silent SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 66978959 66978959 G A SNP SGIP1 NM_032291 human genbank 54_36p 1 validated silent c.2265 p.K755 1 NULL HMMPfam_SAFF - no_errors WDR78 79819 broad.mit.edu 36 1 67163048 67163048 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 67163048 67163048 A T SNP WDR78 NM_024763 human genbank 54_36p -1 validated missense c.55 p.W19R 0.01 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors C1orf141 400757 broad.mit.edu 36 1 67331662 67331662 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 67331662 67331662 G C SNP C1orf141 NM_001013674 human genbank 54_36p -1 predicted missense c.817 p.P273A 0 NULL NULL - no_errors IL12RB2 3595 broad.mit.edu 36 1 67589210 67589210 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture Broad454 Illumina GAIIx 1 67589210 67589210 G A SNP IL12RB2 NM_001559 human genbank 54_36p 1 reviewed missense c.1108 p.G370R 0 superfamily_Fibronectin type III "HMMPfam_Lep_receptor_Ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors GADD45A 1647 broad.mit.edu 36 1 67924773 67924773 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 67924773 67924773 A G SNP GADD45A NM_001924 human genbank 54_36p 1 reviewed missense c.299 p.E100G 1 "superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae" "superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae" - no_errors RPE65 6121 broad.mit.edu 36 1 68677271 68677271 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 68677271 68677271 G C SNP RPE65 NM_000329 human genbank 54_36p -1 reviewed missense c.940 p.H314D 1 HMMPfam_RPE65 HMMPfam_RPE65 - no_errors LRRC7 57554 broad.mit.edu 36 1 70030338 70030338 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 70030338 70030338 C G SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.214 p.R72G 1 "superfamily_L domain-like,HMMSmart_SM00364" "superfamily_L domain-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors LRRC7 57554 broad.mit.edu 36 1 70274829 70274829 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 70274829 70274829 G C SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.2108 p.R703P 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors LRRC40 55631 broad.mit.edu 36 1 70423164 70423164 + Silent SNP G G C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 70423164 70423164 G C SNP LRRC40 NM_017768 human genbank 54_36p -1 provisional silent c.429 p.L143 0.32 "superfamily_SSF52058,HMMPfam_LRR_1" "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors SRSF11 9295 broad.mit.edu 36 1 70488228 70488228 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 70488228 70488228 G C SNP SFRS11 NM_004768 human genbank 54_36p 1 reviewed missense c.1028 p.R343T 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors SRSF11 9295 broad.mit.edu 36 1 70489053 70489053 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 70489053 70489053 G T SNP SFRS11 NM_004768 human genbank 54_36p 1 reviewed nonsense c.1432 p.E478* 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors ZRANB2 9406 broad.mit.edu 36 1 71305075 71305075 + Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 71305075 71305075 T A SNP ZRANB2 NM_203350 human genbank 54_36p -1 validated nonsense c.901 p.R301* 1 NULL "superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors ZRANB2 9406 broad.mit.edu 36 1 71316933 71316933 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 71316933 71316933 C A SNP ZRANB2 NM_203350 human genbank 54_36p -1 validated missense c.103 p.G35C 1 "HMMPfam_zf-RanBP,HMMSmart_SM00547,superfamily_Znf265 first zinc-finger domain" "HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain" - no_errors LRRIQ3 127255 broad.mit.edu 36 1 74279941 74279941 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 74279941 74279941 C G SNP LRRIQ3 NM_001105659 human genbank 54_36p -1 inferred missense c.1262 p.S421T 0 NULL "superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1" - no_errors LRRIQ3 127255 broad.mit.edu 36 1 74420873 74420873 + Silent SNP A A G novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 74420873 74420873 A G SNP LRRIQ3 NM_001105659 human genbank 54_36p -1 inferred silent c.510 p.L170 1 superfamily_Outer arm dynein light chain 1 "HMMPfam_LRR_1,superfamily_Outer arm dynein light chain 1" - no_errors TNNI3K 51086 broad.mit.edu 36 1 74581390 74581390 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 74581390 74581390 C G SNP TNNI3K NM_015978 human genbank 54_36p 1 validated missense c.871 p.Q291E 1 "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP" - no_errors TNNI3K 51086 broad.mit.edu 36 1 74592275 74592275 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 74592275 74592275 G A SNP TNNI3K NM_015978 human genbank 54_36p 1 validated missense c.1051 p.G351S 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Pkinase_Tyr,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP" - no_errors C1orf173 127254 broad.mit.edu 36 1 74828082 74828082 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 74828082 74828082 T G SNP C1orf173 NM_001002912 human genbank 54_36p -1 predicted missense c.1997 p.E666A 0 NULL NULL - no_errors LHX8 431707 broad.mit.edu 36 1 75395266 75395266 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 75395266 75395266 C A SNP LHX8 NM_001001933 human genbank 54_36p 1 validated missense c.911 p.P304Q 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors LHX8 431707 broad.mit.edu 36 1 75399099 75399099 + Silent SNP A A C novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 75399099 75399099 A C SNP LHX8 NM_001001933 human genbank 54_36p 1 validated silent c.1002 p.S334 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors SLC44A5 204962 broad.mit.edu 36 1 75476848 75476848 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 75476848 75476848 C G SNP SLC44A5 NM_152697 human genbank 54_36p -1 validated missense c.594 p.K198N 0.04 NULL HMMPfam_DUF580 - no_errors RABGGTB 5876 broad.mit.edu 36 1 76032914 76032914 + Silent SNP A A G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 76032914 76032914 A G SNP RABGGTB NM_004582 human genbank 54_36p 1 provisional silent c.987 p.L329 1 NULL "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Prenyltrans" - no_errors ASB17 127247 broad.mit.edu 36 1 76170547 76170547 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 76170547 76170547 T A SNP ASB17 NM_080868 human genbank 54_36p -1 validated missense c.18 p.K6N 0.96 NULL HMMPfam_SOCS_box - no_errors ST6GALNAC3 256435 broad.mit.edu 36 1 76552079 76552079 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 76552079 76552079 G T SNP ST6GALNAC3 NM_152996 human genbank 54_36p 1 provisional missense c.20 p.R7I 1 NULL HMMPfam_Glyco_transf_29 - no_errors ST6GALNAC3 256435 broad.mit.edu 36 1 76650491 76650491 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 76650491 76650491 T C SNP ST6GALNAC3 NM_152996 human genbank 54_36p 1 provisional missense c.424 p.Y142H 0.98 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors PIGK 10026 broad.mit.edu 36 1 77392875 77392875 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 77392875 77392875 C T SNP PIGK NM_005482 human genbank 54_36p -1 reviewed missense c.833 p.S278N 1 HMMPfam_Peptidase_C13 HMMPfam_Peptidase_C13 - no_errors ZZZ3 26009 broad.mit.edu 36 1 77814395 77814395 + Silent SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 77814395 77814395 A G SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional silent c.2277 p.D759 1 NULL "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors ZZZ3 26009 broad.mit.edu 36 1 77870155 77870155 + Silent SNP T T C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 77870155 77870155 T C SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional silent c.1473 p.E491 1 NULL "HMMPfam_ZZ,PatternScan_ZF_ZZ_1,HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding" - no_errors FAM73A 374986 broad.mit.edu 36 1 78021524 78021524 + Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 78021524 78021524 C A SNP FAM73A NM_198549 human genbank 54_36p 1 predicted missense c.95 p.A32D 1 NULL HMMPfam_DUF2217 - no_errors FAM73A 374986 broad.mit.edu 36 1 78081625 78081625 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 78081625 78081625 G T SNP FAM73A NM_198549 human genbank 54_36p 1 predicted missense c.941 p.G314V 0.97 HMMPfam_DUF2217 HMMPfam_DUF2217 - no_errors NEXN 91624 broad.mit.edu 36 1 78155936 78155936 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 78155936 78155936 G T SNP NEXN NM_144573 human genbank 54_36p 1 validated missense c.125 p.R42M 1 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409" - no_errors NEXN 91624 broad.mit.edu 36 1 78156487 78156487 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 78156487 78156487 G T SNP NEXN NM_144573 human genbank 54_36p 1 validated nonsense c.388 p.E130* 1 NULL "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors DNAJB4 11080 broad.mit.edu 36 1 78254490 78254490 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 78254490 78254490 G T SNP DNAJB4 NM_007034 human genbank 54_36p 1 provisional missense c.985 p.V329L 1 "HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain" "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP40/DnaJ peptide-binding domain,HMMPfam_DnaJ_C" - no_errors GIPC2 54810 broad.mit.edu 36 1 78319011 78319011 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 78319011 78319011 G A SNP GIPC2 NM_017655 human genbank 54_36p 1 validated missense c.305 p.G102E 1 superfamily_PDZ "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors PTGFR 5737 broad.mit.edu 36 1 78731443 78731443 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 78731443 78731443 C A SNP PTGFR NM_000959 human genbank 54_36p 1 reviewed missense c.427 p.H143N 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PTGFR 5737 broad.mit.edu 36 1 78731774 78731774 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 78731774 78731774 C T SNP PTGFR NM_000959 human genbank 54_36p 1 reviewed missense c.758 p.A253V 0.82 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors IFI44 10561 broad.mit.edu 36 1 78888697 78888697 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 78888697 78888697 A G SNP IFI44 NM_006417 human genbank 54_36p 1 validated missense c.229 p.I77V 0 NULL superfamily_SSF52540 - no_errors TTLL7 79739 broad.mit.edu 36 1 84180810 84180810 + Frame_Shift_Del DEL A - A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 84180810 84180810 A - DEL TTLL7 NM_024686 human genbank 54_36p -1 validated frame_shift_del c.647 p.L216fs 1 "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "(deletion:cds_exon[84180734,84180950])" no_errors DNASE2B 58511 broad.mit.edu 36 1 84636855 84636855 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 84636855 84636855 C A SNP DNASE2B NM_021233 human genbank 54_36p 1 reviewed missense c.8 p.A3E 0.83 NULL HMMPfam_DNase_II - no_errors CTBS 1486 broad.mit.edu 36 1 84808932 84808932 + Silent SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 84808932 84808932 T C SNP CTBS NM_004388 human genbank 54_36p -1 validated silent c.237 p.T79 1 "superfamily_(Trans)glycosidases,HMMSmart_SM00636" "superfamily_(Trans)glycosidases,HMMSmart_SM00636,HMMPfam_Glyco_hydro_18,PatternScan_CHITINASE_18" - no_errors SSX2IP 117178 broad.mit.edu 36 1 84896645 84896645 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 84896645 84896645 C T SNP SSX2IP NM_014021 human genbank 54_36p -1 provisional missense c.1022 p.S341N 1 NULL NULL - no_errors SSX2IP 117178 broad.mit.edu 36 1 84900740 84900740 + Silent SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 84900740 84900740 A G SNP SSX2IP NM_014021 human genbank 54_36p -1 provisional silent c.735 p.G245 0.61 NULL NULL - no_errors LPAR3 23566 broad.mit.edu 36 1 85103869 85103869 + Frame_Shift_Del DEL C - C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 85103869 85103869 C - DEL LPAR3 NM_012152 human genbank 54_36p -1 reviewed frame_shift_del c.523 p.A175fs 0.02 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[85103656,85104391])" no_errors MCOLN2 255231 broad.mit.edu 36 1 85169778 85169778 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 85169778 85169778 A G SNP MCOLN2 NM_153259 human genbank 54_36p -1 reviewed missense c.1397 p.F466S 1 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors MCOLN2 255231 broad.mit.edu 36 1 85169786 85169786 + Silent SNP A A G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 85169786 85169786 A G SNP MCOLN2 NM_153259 human genbank 54_36p -1 reviewed silent c.1389 p.D463 1 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors WDR63 126820 broad.mit.edu 36 1 85311356 85311356 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 85311356 85311356 G C SNP WDR63 NM_145172 human genbank 54_36p 1 validated missense c.96 p.E32D 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ODF2L 57489 broad.mit.edu 36 1 86594815 86594815 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 86594815 86594815 G A SNP ODF2L NM_020729 human genbank 54_36p -1 validated missense c.1331 p.T444M 0.1 NULL superfamily_tRNA-binding arm - no_errors CLCA1 1179 broad.mit.edu 36 1 86731793 86731793 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 86731793 86731793 A T SNP CLCA1 NM_001285 human genbank 54_36p 1 reviewed missense c.1603 p.S535C 1 HMMPfam_DUF1973 "HMMPfam_CLCA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_DUF1973,PatternScan_ATPASE_GAMMA" - no_errors CLCA4 22802 broad.mit.edu 36 1 86804090 86804090 + Silent SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 86804090 86804090 C T SNP CLCA4 NM_012128 human genbank 54_36p 1 reviewed silent c.753 p.N251 0.01 HMMPfam_CLCA_N "HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973" - no_errors GTF2B 2959 broad.mit.edu 36 1 89098279 89098279 + Nonsense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89098279 89098279 G A SNP GTF2B NM_001514 human genbank 54_36p -1 reviewed nonsense c.409 p.R137* 1 "superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB" "superfamily_Zinc beta-ribbon,HMMPfam_TFIIB_Zn_Ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,PatternScan_TFIIB" - no_errors CCBL2 56267 broad.mit.edu 36 1 89221358 89221358 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89221358 89221358 C G SNP CCBL2 NM_019610 human genbank 54_36p -1 reviewed missense c.740 p.G247A 1 NULL "HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1,HMMPfam_RBM1CTR" - no_errors CCBL2 56267 broad.mit.edu 36 1 89221583 89221583 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 89221583 89221583 C T SNP CCBL2 NM_019610 human genbank 54_36p -1 reviewed missense c.515 p.R172H 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_RBM1CTR,superfamily_SSF54928" - no_errors GBP3 2635 broad.mit.edu 36 1 89251537 89251537 + Nonsense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89251537 89251537 G A SNP GBP3 NM_018284 human genbank 54_36p -1 reviewed nonsense c.787 p.Q263* 0.98 superfamily_SSF52540 "superfamily_SSF52540,HMMPfam_GBP_C,superfamily_GBP" - no_errors GBP6 163351 broad.mit.edu 36 1 89607795 89607795 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89607795 89607795 C A SNP GBP6 NM_198460 human genbank 54_36p 1 validated missense c.293 p.T98N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors LRRC8B 23507 broad.mit.edu 36 1 89820905 89820905 + Silent SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89820905 89820905 G T SNP LRRC8B NM_015350 human genbank 54_36p 1 validated silent c.108 p.L36 1 NULL "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors LRRC8B 23507 broad.mit.edu 36 1 89822190 89822190 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89822190 89822190 C G SNP LRRC8B NM_015350 human genbank 54_36p 1 validated missense c.1393 p.L465V 1 superfamily_SSF52058 "HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors LRRC8C 84230 broad.mit.edu 36 1 89952291 89952291 + Missense_Mutation SNP T T G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89952291 89952291 T G SNP LRRC8C NM_032270 human genbank 54_36p 1 validated missense c.1574 p.L525R 0.99 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors LRRC8C 84230 broad.mit.edu 36 1 89952954 89952954 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 89952954 89952954 C T SNP LRRC8C NM_032270 human genbank 54_36p 1 validated missense c.2237 p.P746L 1 superfamily_L domain-like "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" - no_errors LRRC8D 55144 broad.mit.edu 36 1 90172512 90172512 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 90172512 90172512 C A SNP LRRC8D NM_018103 human genbank 54_36p 1 validated missense c.1297 p.R433S 1 NULL "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors ZNF644 84146 broad.mit.edu 36 1 91177507 91177507 + Silent SNP T T A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 91177507 91177507 T A SNP ZNF644 NM_201269 human genbank 54_36p -1 validated silent c.1992 p.T664 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF644 84146 broad.mit.edu 36 1 91178903 91178904 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 91178903 91178904 GA TT DNP ZNF644 NM_201269 human genbank 54_36p -1 validated missense c.596_595 p.S199K 1.000:1.000 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CDC7 8317 broad.mit.edu 36 1 91746068 91746068 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 91746068 91746068 A G SNP CDC7 NM_003503 human genbank 54_36p 1 reviewed missense c.185 p.D62G 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CDC7 8317 broad.mit.edu 36 1 91762452 91762452 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 91762452 91762452 G C SNP CDC7 NM_003503 human genbank 54_36p 1 reviewed missense c.1597 p.E533Q 0.21 "HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors BTBD8 284697 broad.mit.edu 36 1 92340678 92340678 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 92340678 92340678 G T SNP BTBD8 NM_183242 human genbank 54_36p 1 validated missense c.408 p.K136N 0.32 "superfamily_POZ domain,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors C1orf146 388649 broad.mit.edu 36 1 92483776 92483806 + Frame_Shift_Del DEL TTCAGAAGATAAAACTGAATAGTGATTCAGT - TTCAGAAGATAAAACTGAATAGTGATTCAGT novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 TTCAGAAGATAAAACTGAATAGTGATTCAGT TTCAGAAGATAAAACTGAATAGTGATTCAGT - - TTCAGAAGATAAAACTGAATAGTGATTCAGT TTCAGAAGATAAAACTGAATAGTGATTCAGT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 92483776 92483806 TTCAGAAGATAAAACTGAATAGTGATTCAGT - DEL C1orf146 NM_001012425 human genbank 54_36p 1 validated frame_shift_del c.500_530 p.Q168fs 1.000:1.000:1.000:0.996:0.950:0.951:0.953:0.929:0.485:0.462:0.445:0.395:0.386:0.347:0.342:0.306:0.218:0.078:0.011:0.009:0.007:0.032:0.092:0.095:0.086:0.004:0.002:0.001:0.003:0.004:0.071 NULL NULL "(deletion:cds_exon[92483685,92483819])" no_errors GFI1 2672 broad.mit.edu 36 1 92721062 92721062 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 92721062 92721062 C T SNP GFI1 NM_005263 human genbank 54_36p -1 reviewed missense c.245 p.R82Q 0.02 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2HC" - no_errors MTF2 22823 broad.mit.edu 36 1 93353231 93353231 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 93353231 93353231 A C SNP MTF2 NM_007358 human genbank 54_36p 1 validated missense c.481 p.K161Q 1 superfamily_FYVE/PHD zinc finger "HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors TMED5 50999 broad.mit.edu 36 1 93418292 93418292 + Silent SNP G G C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 93418292 93418292 G C SNP TMED5 NM_016040 human genbank 54_36p -1 provisional silent c.96 p.L32 0.87 NULL "HMMPfam_EMP24_GP25L,superfamily_SSF101576" - no_errors DNTTIP2 30836 broad.mit.edu 36 1 94115352 94115352 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 94115352 94115352 G A SNP DNTTIP2 NM_014597 human genbank 54_36p -1 provisional nonsense c.727 p.Q243* 0.01 NULL HMMPfam_Fcf2 - no_errors ABCA4 24 broad.mit.edu 36 1 94267639 94267639 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 94267639 94267639 T A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.4489 p.T1497S 1 NULL "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA4 24 broad.mit.edu 36 1 94294785 94294785 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 94294785 94294785 G T SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.2342 p.A781D 1 NULL "HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors ARHGAP29 9411 broad.mit.edu 36 1 94417975 94417975 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 94417975 94417975 T C SNP ARHGAP29 NM_004815 human genbank 54_36p -1 validated missense c.2374 p.M792V 0 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors RWDD3 25950 broad.mit.edu 36 1 95482369 95482369 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 95482369 95482369 G C SNP RWDD3 NM_015485 human genbank 54_36p 1 validated missense c.100 p.V34L 0.29 "HMMPfam_RWD,superfamily_UBC-like,HMMSmart_SM00591" "HMMPfam_RWD,superfamily_UBC-like,HMMSmart_SM00591" - no_errors DPYD 1806 broad.mit.edu 36 1 98066259 98066259 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 98066259 98066259 T A SNP DPYD NM_000110 human genbank 54_36p -1 reviewed nonsense c.232 p.R78* 1 superfamily_Helical_ferredxn "superfamily_Helical_ferredxn,superfamily_SSF51971,HMMPfam_Pyr_redox_2,superfamily_SSF51395,HMMPfam_DHO_dh,superfamily_SSF54862,HMMPfam_Fer4,PatternScan_4FE4S_FER_1" - no_errors SNX7 51375 broad.mit.edu 36 1 98929307 98929307 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 98929307 98929307 C G SNP SNX7 NM_015976 human genbank 54_36p 1 reviewed missense c.260 p.A87G 1 "superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX" "superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX" - no_errors LPPR4 9890 broad.mit.edu 36 1 99539933 99539933 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 99539933 99539933 T A SNP LPPR4 NM_014839 human genbank 54_36p 1 reviewed missense c.858 p.F286L 1 "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors LPPR4 9890 broad.mit.edu 36 1 99544192 99544192 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 99544192 99544192 T A SNP LPPR4 NM_014839 human genbank 54_36p 1 reviewed missense c.1330 p.S444T 0.99 NULL "HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase" - no_errors PALMD 54873 broad.mit.edu 36 1 99927002 99927002 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 99927002 99927002 G C SNP PALMD NM_017734 human genbank 54_36p 1 validated missense c.598 p.D200H 0.98 HMMPfam_Paralemmin HMMPfam_Paralemmin - no_errors CCDC76 54482 broad.mit.edu 36 1 100386036 100386036 + Splice_Site SNP A A C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 100386036 100386036 A C SNP CCDC76 NM_019083 human genbank 54_36p 1 provisional splice_site c.818-2 e10-2 1 - - - no_errors LRRC39 127495 broad.mit.edu 36 1 100398634 100398634 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 100398634 100398634 C T SNP LRRC39 NM_144620 human genbank 54_36p -1 provisional silent c.195 p.L65 0.99 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors S1PR1 1901 broad.mit.edu 36 1 101477260 101477260 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 1 101477260 101477260 C A SNP S1PR1 NM_001400 human genbank 54_36p 1 reviewed missense c.132 p.S44R 0.78 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors S1PR1 1901 broad.mit.edu 36 1 101477918 101477918 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 101477918 101477918 G A SNP S1PR1 NM_001400 human genbank 54_36p 1 reviewed missense c.790 p.V264I 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors COL11A1 1301 broad.mit.edu 36 1 103177215 103177215 + Silent SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 103177215 103177215 C T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed silent c.3438 p.P1146 0.48 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors COL11A1 1301 broad.mit.edu 36 1 103242778 103242778 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 103242778 103242778 C T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.1909 p.G637S 1 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors COL11A1 1301 broad.mit.edu 36 1 103263665 103263665 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 103263665 103263665 C T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed silent c.1026 p.E342 1 NULL "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors NTNG1 22854 broad.mit.edu 36 1 107668441 107668441 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 107668441 107668441 G A SNP NTNG1 NM_014917 human genbank 54_36p 1 provisional missense c.261 p.M87I 1 "HMMPfam_Laminin_N,HMMSmart_LamNT" "HMMPfam_Laminin_N,HMMSmart_LamNT,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,HMMSmart_EGF,HMMPfam_EGF_2" - no_errors NTNG1 22854 broad.mit.edu 36 1 107780840 107780840 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 107780840 107780840 A C SNP NTNG1 ENST00000370068 human ensembl 54_36p 1 known missense c.1286 p.H429P 1 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin" "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,PatternScan_EGF_1,HMMPfam_EGF_2,superfamily_EGF/Laminin" - no_errors VAV3 10451 broad.mit.edu 36 1 108112631 108112631 + Silent SNP T T C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 108112631 108112631 T C SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed silent c.672 p.R224 1 "superfamily_Calponin-homology domain CH-domain,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors VAV3 10451 broad.mit.edu 36 1 108308902 108308902 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 108308902 108308902 C G SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed missense c.113 p.R38P 1 "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" ############################################################################################################################################################################################################################################################### - no_errors FNDC7 163479 broad.mit.edu 36 1 109075033 109075033 + Silent SNP C C A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 109075033 109075033 C A SNP FNDC7 ENST00000370017 human ensembl 54_36p 1 known silent c.1428 p.T476 0.02 "superfamily_Fibronectin type III,HMMSmart_SM00060" "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors STXBP3 6814 broad.mit.edu 36 1 109102718 109102718 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109102718 109102718 A G SNP STXBP3 NM_007269 human genbank 54_36p 1 validated missense c.322 p.I108V 0.99 "superfamily_Sec1-like,HMMPfam_Sec1" "superfamily_Sec1-like,HMMPfam_Sec1" - no_errors AKNAD1 254268 broad.mit.edu 36 1 109196514 109196514 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109196514 109196514 G A SNP C1orf62 NM_152763 human genbank 54_36p -1 validated missense c.296 p.A99V 0 NULL NULL - no_errors C1orf194 127003 broad.mit.edu 36 1 109452069 109452069 + Silent SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 109452069 109452069 G A SNP C1orf194 ENST00000369948 human ensembl 54_36p -1 known silent c.195 p.P65 0.02 NULL NULL - no_errors KIAA1324 57535 broad.mit.edu 36 1 109508684 109508684 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109508684 109508684 C A SNP KIAA1324 NM_020775 human genbank 54_36p 1 validated missense c.315 p.D105E 1 superfamily_Growth factor receptor domain "superfamily_Growth factor receptor domain,superfamily_Mannose 6-phosphate receptor domain" - no_errors SARS 6301 broad.mit.edu 36 1 109580633 109580633 + Silent SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 109580633 109580633 G A SNP SARS NM_006513 human genbank 54_36p 1 reviewed silent c.1197 p.T399 0.95 superfamily_Class II aaRS and biotin synthetases "HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b" - no_errors CELSR2 1952 broad.mit.edu 36 1 109594631 109594631 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 109594631 109594631 C A SNP CELSR2 NM_001408 human genbank 54_36p 1 reviewed missense c.407 p.P136Q 0.03 NULL ############################################################################################################################################################################################################################################################### - no_errors CELSR2 1952 broad.mit.edu 36 1 109595278 109595278 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109595278 109595278 C T SNP CELSR2 NM_001408 human genbank 54_36p 1 reviewed missense c.1054 p.R352C 0.35 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors CELSR2 1952 broad.mit.edu 36 1 109595695 109595695 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109595695 109595695 G C SNP CELSR2 NM_001408 human genbank 54_36p 1 reviewed missense c.1471 p.V491L 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors CELSR2 1952 broad.mit.edu 36 1 109596284 109596284 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109596284 109596284 C T SNP CELSR2 NM_001408 human genbank 54_36p 1 reviewed missense c.2060 p.A687V 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors MYBPHL 343263 broad.mit.edu 36 1 109641626 109641626 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 109641626 109641626 T G SNP MYBPHL NM_001010985 human genbank 54_36p -1 validated missense c.371 p.Q124P 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors SORT1 6272 broad.mit.edu 36 1 109671666 109671666 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109671666 109671666 G A SNP SORT1 NM_002959 human genbank 54_36p -1 reviewed silent c.1452 p.A484 0.99 "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602" "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,PatternScan_HEMOCYANIN_2" - no_errors SYPL2 284612 broad.mit.edu 36 1 109820954 109820954 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109820954 109820954 C T SNP SYPL2 NM_001040709 human genbank 54_36p 1 validated silent c.288 p.C96 0.98 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors ATXN7L2 127002 broad.mit.edu 36 1 109831160 109831160 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109831160 109831160 C T SNP ATXN7L2 NM_153340 human genbank 54_36p 1 validated missense c.307 p.H103Y 1 NULL HMMPfam_SCA7 - no_errors AMIGO1 57463 broad.mit.edu 36 1 109852263 109852263 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109852263 109852263 C T SNP AMIGO1 NM_020703 human genbank 54_36p -1 validated silent c.795 p.L265 0.63 "superfamily_SSF52058,HMMSmart_LRRCT" "superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors GNAI3 2773 broad.mit.edu 36 1 109917913 109917913 + Silent SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 109917913 109917913 G A SNP GNAI3 NM_006496 human genbank 54_36p 1 validated silent c.150 p.V50 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" - no_errors GSTM1 2944 broad.mit.edu 36 1 110032380 110032381 + Missense_Mutation DNP GA GA TC novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 110032380 110032381 GA TC DNP GSTM1 NM_000561 human genbank 54_36p 1 reviewed missense c.102_103 p.M35L 0.000:0.000 "superfamily_Thioredoxin-like,HMMPfam_GST_N" "superfamily_Thioredoxin-like,HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C" - no_errors GSTM5 2949 broad.mit.edu 36 1 110059274 110059274 + Splice_Site SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 110059274 110059274 G A SNP GSTM5 NM_000851 human genbank 54_36p 1 reviewed splice_site c.457-1 e7-1 1 - - - no_errors EPS8L3 79574 broad.mit.edu 36 1 110102785 110102785 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 110102785 110102785 G C SNP EPS8L3 NM_139053 human genbank 54_36p -1 reviewed missense c.488 p.P163R 0.02 NULL "HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors EPS8L3 79574 broad.mit.edu 36 1 110103833 110103833 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 110103833 110103833 A G SNP EPS8L3 NM_139053 human genbank 54_36p -1 reviewed missense c.245 p.I82T 0.99 HMMPfam_PTB "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PTB" - no_errors UBL4B 164153 broad.mit.edu 36 1 110457186 110457186 + Frame_Shift_Del DEL G - G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 110457186 110457186 G - DEL UBL4B NM_203412 human genbank 54_36p 1 validated frame_shift_del c.507 p.A170fs 0 NULL "PatternScan_UBIQUITIN_1,HMMSmart_UBQ,superfamily_SSF54236,HMMPfam_ubiquitin" "(deletion:cds_exon[110456680,110457204])" no_errors RBM15 64783 broad.mit.edu 36 1 110684843 110684843 + Silent SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 110684843 110684843 A G SNP RBM15 NM_022768 human genbank 54_36p 1 validated silent c.1293 p.K431 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,superfamily_SPOC domain-like,HMMPfam_SPOC" - no_errors RBM15 64783 broad.mit.edu 36 1 110685238 110685238 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 110685238 110685238 G C SNP RBM15 NM_022768 human genbank 54_36p 1 validated missense c.1688 p.G563A 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_SPOC,superfamily_SPOC domain-like,superfamily_RNA-binding domain RBD" - no_errors SLC16A4 9122 broad.mit.edu 36 1 110723108 110723108 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 110723108 110723108 G C SNP SLC16A4 NM_004696 human genbank 54_36p -1 provisional missense c.920 p.S307C 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors HBXIP 10542 broad.mit.edu 36 1 110745685 110745685 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 110745685 110745685 G T SNP HBXIP NM_006402 human genbank 54_36p -1 reviewed missense c.505 p.H169N 1 NULL NULL - no_errors KCNA10 3744 broad.mit.edu 36 1 110862799 110862799 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 110862799 110862799 G A SNP KCNA10 NM_005549 human genbank 54_36p -1 reviewed missense c.134 p.S45F 1 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA3 3738 broad.mit.edu 36 1 111017919 111017919 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 111017919 111017919 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.1036 p.E346K 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors CEPT1 10390 broad.mit.edu 36 1 111505352 111505352 + Silent SNP T T C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 111505352 111505352 T C SNP CEPT1 NM_001007794 human genbank 54_36p 1 reviewed silent c.540 p.D180 1 HMMPfam_CDP-OH_P_transf "HMMPfam_CDP-OH_P_transf,PatternScan_CDP_ALCOHOL_P_TRANSF" - no_errors C1orf88 128344 broad.mit.edu 36 1 111692773 111692773 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 111692773 111692773 A C SNP C1orf88 NM_181643 human genbank 54_36p 1 validated missense c.371 p.K124T 0.04 NULL NULL - no_errors OVGP1 5016 broad.mit.edu 36 1 111765514 111765515 + Frame_Shift_Ins INS - A - novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 111765514 111765515 - A INS OVGP1 NM_002557 human genbank 54_36p -1 reviewed frame_shift_ins c.810_809 p.K271fs 0.013:0.111 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" - no_errors OVGP1 5016 broad.mit.edu 36 1 111765549 111765549 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 111765549 111765549 C T SNP OVGP1 NM_002557 human genbank 54_36p -1 reviewed missense c.775 p.G259R 1 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" - no_errors KCND3 3752 broad.mit.edu 36 1 112325794 112325794 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 112325794 112325794 A G SNP KCND3 NM_004980 human genbank 54_36p -1 reviewed missense c.1078 p.Y360H 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CTTNBP2NL 55917 broad.mit.edu 36 1 112798625 112798625 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 112798625 112798625 G T SNP CTTNBP2NL NM_018704 human genbank 54_36p 1 validated missense c.362 p.R121L 1 HMMPfam_CortBP2 HMMPfam_CortBP2 - no_errors WNT2B 7482 broad.mit.edu 36 1 112861398 112861398 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 112861398 112861398 G T SNP WNT2B NM_024494 human genbank 54_36p 1 reviewed missense c.814 p.A272S 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors MOV10 4343 broad.mit.edu 36 1 113019167 113019167 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 113019167 113019167 C G SNP MOV10 NM_020963 human genbank 54_36p 1 validated missense c.110 p.T37S 0.2 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ER_TARGET" - no_errors MOV10 4343 broad.mit.edu 36 1 113038243 113038243 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 113038243 113038243 G T SNP MOV10 NM_020963 human genbank 54_36p 1 validated missense c.1221 p.Q407H 0.06 NULL "PatternScan_ER_TARGET,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RHOC 389 broad.mit.edu 36 1 113047244 113047244 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 113047244 113047244 G T SNP RHOC NM_001042678 human genbank 54_36p -1 reviewed missense c.177 p.D59E 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00173,HMMSmart_SM00174" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00173,HMMSmart_SM00174" - no_errors FAM19A3 284467 broad.mit.edu 36 1 113067209 113067232 + In_Frame_Del DEL GCAACCGGAACCGCATCGAGGAGC - GCAACCGGAACCGCATCGAGGAGC novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D GCAACCGGAACCGCATCGAGGAGC GCAACCGGAACCGCATCGAGGAGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 113067209 113067232 GCAACCGGAACCGCATCGAGGAGC - DEL FAM19A3 NM_001004440 human genbank 54_36p 1 reviewed in_frame_del c.164_187 p.NRNRIEER56in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.940:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[113067161,113067310])" no_errors LRIG2 9860 broad.mit.edu 36 1 113468234 113468234 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 113468234 113468234 T G SNP LRIG2 NM_014813 human genbank 54_36p 1 provisional missense c.3186 p.S1062R 0.1 NULL "superfamily_SSF52047,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMPfam_I-set,HMMSmart_IGc2" - no_errors MAGI3 260425 broad.mit.edu 36 1 113993436 113993436 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 113993436 113993436 G C SNP MAGI3 NM_152900 human genbank 54_36p 1 validated missense c.2210 p.G737A 1 "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" "superfamily_PDZ,HMMSmart_PDZ,HMMSmart_GuKc,superfamily_SSF52540,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_PDZ" - no_errors MAGI3 260425 broad.mit.edu 36 1 114003284 114003284 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 114003284 114003284 C G SNP MAGI3 NM_152900 human genbank 54_36p 1 validated missense c.2689 p.L897V 0.87 "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ" "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540" - no_errors MAGI3 260425 broad.mit.edu 36 1 114015900 114015900 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 114015900 114015900 G A SNP MAGI3 NM_152900 human genbank 54_36p 1 validated missense c.2837 p.G946E 1 superfamily_PDZ "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540" - no_errors RSBN1 54665 broad.mit.edu 36 1 114156376 114156376 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 114156376 114156376 G T SNP RSBN1 NM_018364 human genbank 54_36p -1 validated missense c.182 p.A61E 1 NULL NULL - no_errors AP4B1 10717 broad.mit.edu 36 1 114240158 114240158 + Silent SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 114240158 114240158 C A SNP AP4B1 NM_006594 human genbank 54_36p -1 validated silent c.1536 p.R512 0.74 "superfamily_ARM-type_fold,HMMPfam_Adaptin_N" "superfamily_ARM-type_fold,HMMPfam_Adaptin_N,HMMPfam_B2-adapt-app_C" - no_errors HIPK1 204851 broad.mit.edu 36 1 114284761 114284761 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 114284761 114284761 C A SNP HIPK1 NM_198268 human genbank 54_36p 1 reviewed missense c.233 p.A78D 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors AMPD1 270 broad.mit.edu 36 1 115018116 115018116 + Silent SNP G G A rs34778674 Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 115018116 115018116 G A SNP AMPD1 NM_000036 human genbank 54_36p -1 reviewed silent c.1911 p.F637 1 "superfamily_SSF51556,HMMPfam_A_deaminase" "superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE" - no_errors NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T T C rs11554290 by-hapmap TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 115058052 115058052 T C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1 "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T T C rs11554290 by-hapmap TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 115058052 115058052 T C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors CSDE1 7812 broad.mit.edu 36 1 115064767 115064767 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 115064767 115064767 C A SNP CSDE1 NM_001007553 human genbank 54_36p -1 validated missense c.1968 p.L656F 1 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK,PatternScan_PEROXIDASE_2" - no_errors SLC22A15 55356 broad.mit.edu 36 1 116363748 116363748 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 116363748 116363748 C A SNP SLC22A15 NM_018420 human genbank 54_36p 1 validated missense c.287 p.S96Y 0.66 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" - no_errors IGSF3 3321 broad.mit.edu 36 1 116923710 116923710 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 116923710 116923710 C G SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.3221 p.R1074P 1 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig" - no_errors IGSF3 3321 broad.mit.edu 36 1 116923765 116923765 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 116923765 116923765 C T SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.3166 p.V1056M 1 "HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726" - no_errors CD101 9398 broad.mit.edu 36 1 117355939 117355939 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 117355939 117355939 G C SNP IGSF2 NM_004258 human genbank 54_36p 1 validated missense c.669 p.Q223H 0.01 "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors MAN1A2 10905 broad.mit.edu 36 1 117712505 117712505 + Silent SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 117712505 117712505 C T SNP MAN1A2 NM_006699 human genbank 54_36p 1 validated silent c.177 p.D59 1 NULL "superfamily_Glyco_hydro_47,HMMPfam_Glyco_hydro_47" - no_errors FAM46C 54855 broad.mit.edu 36 1 117967330 117967330 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 117967330 117967330 A T SNP FAM46C NM_017709 human genbank 54_36p 1 validated missense c.317 p.Q106L 1 HMMPfam_DUF1693 HMMPfam_DUF1693 - no_errors GDAP2 54834 broad.mit.edu 36 1 118225983 118225983 + Silent SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 118225983 118225983 G A SNP GDAP2 NM_017686 human genbank 54_36p -1 validated silent c.1287 p.P429 1 "superfamily_CRAL/TRIO domain,HMMSmart_SM00516" "superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_CRAL/TRIO domain,HMMSmart_SM00516" - no_errors SPAG17 200162 broad.mit.edu 36 1 118425746 118425746 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 118425746 118425746 A C SNP SPAG17 NM_206996 human genbank 54_36p -1 validated missense c.1805 p.F602C 1 NULL NULL - no_errors TBX15 6913 broad.mit.edu 36 1 119228927 119228927 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 119228927 119228927 T A SNP TBX15 NM_152380 human genbank 54_36p -1 validated missense c.1442 p.Y481F 1 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors HAO2 51179 broad.mit.edu 36 1 119737936 119737936 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 119737936 119737936 C T SNP HAO2 NM_001005783 human genbank 54_36p 1 reviewed missense c.1006 p.R336W 1 "superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh" "superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1" - no_errors HSD3B2 3284 broad.mit.edu 36 1 119766472 119766472 + Silent SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 119766472 119766472 T C SNP HSD3B2 NM_000198 human genbank 54_36p 1 validated silent c.825 p.F275 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3Beta_HSD" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3Beta_HSD" - no_errors HSD3B1 3283 broad.mit.edu 36 1 119858396 119858396 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 119858396 119858396 C A SNP HSD3B1 NM_000862 human genbank 54_36p 1 validated missense c.727 p.P243T 1 "superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD" "superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD" - no_errors ZNF697 100130667 broad.mit.edu 36 1 119967025 119967025 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 119967025 119967025 C T SNP LOC100130667 XM_001715213 human genbank 54_36p 1 model missense c.583 p.R195C 1 NULL NULL - no_errors PHGDH 26227 broad.mit.edu 36 1 120086007 120086007 + Silent SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 120086007 120086007 G A SNP PHGDH NM_006623 human genbank 54_36p 1 reviewed silent c.1173 p.V391 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HMGCS2 3158 broad.mit.edu 36 1 120108340 120108340 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 120108340 120108340 C T SNP HMGCS2 NM_005518 human genbank 54_36p -1 validated nonsense c.537 p.W179* 1 "HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like" "HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like,PatternScan_HMG_COA_SYNTHASE,HMMPfam_HMG_CoA_synt_C" - no_errors REG4 83998 broad.mit.edu 36 1 120143975 120143975 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 120143975 120143975 G C SNP REG4 NM_032044 human genbank 54_36p -1 validated missense c.199 p.L67V 0.91 "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors ADAM30 11085 broad.mit.edu 36 1 120239173 120239173 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 120239173 120239173 G C SNP ADAM30 NM_021794 human genbank 54_36p -1 reviewed missense c.1310 p.A437G 0.01 "HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin)" ############################################################################################################################################################################################################################################################### - no_errors PDE4DIP 9659 broad.mit.edu 36 1 143565954 143565959 + In_Frame_Del DEL TCGCTC - TCGCTC novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 TCGCTC TCGCTC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 143565954 143565959 TCGCTC - DEL PDE4DIP NM_014644 human genbank 54_36p -1 validated in_frame_del c.6873_6868 p.ER2290in_frame_del 0.024:0.018:0.153:0.669:0.953:0.974 NULL HMMPfam_Microtub_assoc "(deletion:cds_exon[143565875,143566013])" no_errors PDE4DIP 9659 broad.mit.edu 36 1 143590640 143590640 + Silent SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 143590640 143590640 C A SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated silent c.4167 p.S1389 1 NULL HMMPfam_Microtub_assoc - no_errors PDE4DIP 9659 broad.mit.edu 36 1 143663557 143663557 + Splice_Site SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 143663557 143663557 C T SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated splice_site c.518+1 e4+1 1 - - - no_errors PDE4DIP 9659 broad.mit.edu 36 1 143706014 143706014 + Silent SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 143706014 143706014 G A SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated silent c.75 p.R25 1 HMMPfam_Microtub_assoc HMMPfam_Microtub_assoc - no_errors ITGA10 8515 broad.mit.edu 36 1 144245273 144245273 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 144245273 144245273 G A SNP ITGA10 NM_003637 human genbank 54_36p 1 reviewed missense c.1562 p.R521H 0.11 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" - no_errors ANKRD35 148741 broad.mit.edu 36 1 144274407 144274407 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 144274407 144274407 A T SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.2738 p.K913I 0.02 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD35 148741 broad.mit.edu 36 1 144274409 144274409 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 144274409 144274409 G A SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.2740 p.E914K 0.89 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors RNF115 27246 broad.mit.edu 36 1 144393403 144393403 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 144393403 144393403 G A SNP RNF115 NM_014455 human genbank 54_36p 1 validated missense c.452 p.G151E 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors FMO5 2330 broad.mit.edu 36 1 145139448 145139448 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 145139448 145139448 T G SNP FMO5 NM_001461 human genbank 54_36p -1 reviewed missense c.1093 p.T365P 1 "HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors FMO5 2330 broad.mit.edu 36 1 145139682 145139682 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 145139682 145139682 C T SNP FMO5 NM_001461 human genbank 54_36p -1 reviewed missense c.859 p.D287N 1 "HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_FAD/NAD(P)-binding domain" - no_errors CHD1L 9557 broad.mit.edu 36 1 145218467 145218467 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 145218467 145218467 A T SNP CHD1L NM_004284 human genbank 54_36p 1 validated missense c.1684 p.S562C 0.02 NULL "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors ACP6 51205 broad.mit.edu 36 1 145593007 145593007 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 145593007 145593007 T C SNP ACP6 NM_016361 human genbank 54_36p -1 validated missense c.706 p.K236E 0.78 "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A" "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1" - no_errors GJA8 2703 broad.mit.edu 36 1 145846993 145846993 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 145846993 145846993 C T SNP GJA8 NM_005267 human genbank 54_36p 1 validated missense c.287 p.A96V 1 HMMPfam_Connexin "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin50" - no_errors NBPF14 25832 broad.mit.edu 36 1 146471213 146471213 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 146471213 146471213 G A SNP NBPF14 NM_015383 human genbank 54_36p -1 predicted missense c.2725 p.L909F 0 NULL HMMPfam_DUF1220 - no_errors FCGR1A 2209 broad.mit.edu 36 1 148028411 148028412 + Missense_Mutation DNP AA AA CG novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 AA AA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 148028411 148028412 AA CG DNP FCGR1A NM_000566 human genbank 54_36p 1 reviewed missense c.737_738 p.Q246P 0.480:0.327 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors HIST2H2BE 8349 broad.mit.edu 36 1 148124459 148124459 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 148124459 148124459 A G SNP HIST2H2BE NM_003528 human genbank 54_36p -1 reviewed missense c.356 p.V119A 1 "superfamily_Histone-fold,HMMSmart_SM00427" "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST2H2AC 8338 broad.mit.edu 36 1 148125221 148125221 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 148125221 148125221 C T SNP HIST2H2AC NM_003517 human genbank 54_36p 1 reviewed nonsense c.73 p.Q25* 1 "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors SV2A 9900 broad.mit.edu 36 1 148147672 148147672 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 148147672 148147672 G A SNP SV2A NM_014849 human genbank 54_36p -1 validated missense c.1255 p.R419C 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_2" - no_errors SF3B4 10262 broad.mit.edu 36 1 148164355 148164355 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 148164355 148164355 G A SNP SF3B4 NM_005850 human genbank 54_36p -1 reviewed missense c.910 p.P304S 1 NULL "HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1" - no_errors CA14 23632 broad.mit.edu 36 1 148502146 148502146 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 148502146 148502146 C T SNP CA14 NM_012113 human genbank 54_36p 1 reviewed missense c.644 p.S215L 1 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" - no_errors RPRD2 23248 broad.mit.edu 36 1 148710426 148710426 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 148710426 148710426 G A SNP RPRD2 NM_015203 human genbank 54_36p 1 validated missense c.2267 p.G756D 1 NULL "HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS" - no_errors TARS2 80222 broad.mit.edu 36 1 148736708 148736708 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 148736708 148736708 C T SNP TARS2 NM_025150 human genbank 54_36p 1 provisional missense c.1099 p.H367Y 1 "superfamily_SSF55681,HMMPfam_tRNA-synt_2b" "HMMPfam_TGS,superfamily_TGS-like,superfamily_Thr/Ala-tRNA-synth_IIc_edit,HMMPfam_tRNA_SAD,superfamily_SSF55681,HMMPfam_tRNA-synt_2b,superfamily_Anticodon_bd,HMMPfam_HGTP_anticodon" - no_errors ECM1 1893 broad.mit.edu 36 1 148750178 148750178 + Silent SNP A A G novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 148750178 148750178 A G SNP ECM1 NM_004425 human genbank 54_36p 1 reviewed silent c.588 p.P196 0.99 HMMPfam_ECM1 "HMMPfam_ECM1,superfamily_Serum albumin-like" - no_errors ADAMTSL4 54507 broad.mit.edu 36 1 148797711 148797711 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 148797711 148797711 T A SNP ADAMTSL4 NM_019032 human genbank 54_36p 1 reviewed missense c.2521 p.C841S 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors SETDB1 9869 broad.mit.edu 36 1 149190067 149190067 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 149190067 149190067 T C SNP SETDB1 NM_012432 human genbank 54_36p 1 reviewed missense c.2090 p.I697T 1 "superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET" "HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors FAM63A 55793 broad.mit.edu 36 1 149237234 149237234 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 149237234 149237234 G A SNP FAM63A NM_018379 human genbank 54_36p -1 validated missense c.1121 p.P374L 0.02 NULL HMMPfam_DUF544 - no_errors PRUNE 58497 broad.mit.edu 36 1 149273181 149273181 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 149273181 149273181 G C SNP PRUNE NM_021222 human genbank 54_36p 1 provisional missense c.1209 p.E403D 1 NULL "HMMPfam_DHH,superfamily_DHH phosphoesterases,HMMPfam_DHHA2,PatternScan_GLYCOSYL_HYDROL_F5" - no_errors C1orf56 54964 broad.mit.edu 36 1 149287040 149287040 + Silent SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 149287040 149287040 C G SNP C1orf56 NM_017860 human genbank 54_36p 1 predicted silent c.93 p.T31 0.02 NULL NULL - no_errors SEMA6C 10500 broad.mit.edu 36 1 149377178 149377178 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 149377178 149377178 G C SNP SEMA6C NM_030913 human genbank 54_36p -1 reviewed missense c.575 p.A192G 0.95 "superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema" "superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,HMMPfam_PSI,superfamily_Plexin repeat" - no_errors PI4KB 5298 broad.mit.edu 36 1 149541337 149541337 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 149541337 149541337 G C SNP PI4KB NM_002651 human genbank 54_36p -1 provisional missense c.1618 p.P540A 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors POGZ 23126 broad.mit.edu 36 1 149667507 149667507 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 149667507 149667507 C T SNP POGZ NM_015100 human genbank 54_36p -1 reviewed missense c.575 p.G192D 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMPfam_CenpB-DNA-bind,superfamily_Homeodomain-like,HMMSmart_SM00674,HMMPfam_DDE" - no_errors CGN 57530 broad.mit.edu 36 1 149763795 149763795 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 149763795 149763795 C A SNP CGN NM_020770 human genbank 54_36p 1 validated missense c.1423 p.L475I 0.99 NULL HMMPfam_Myosin_tail_1 - no_errors SNX27 81609 broad.mit.edu 36 1 149907704 149907704 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 149907704 149907704 A G SNP SNX27 NM_030918 human genbank 54_36p 1 reviewed missense c.1118 p.N373S 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PX,HMMSmart_PX,HMMPfam_PX,HMMPfam_RA" - no_errors TDRKH 11022 broad.mit.edu 36 1 150022058 150022058 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150022058 150022058 C A SNP TDRKH NM_001083963 human genbank 54_36p -1 validated missense c.65 p.G22V 0.99 NULL "superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" - no_errors LINGO4 339398 broad.mit.edu 36 1 150040530 150040530 + Silent SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150040530 150040530 T C SNP LINGO4 NM_001004432 human genbank 54_36p -1 provisional silent c.1275 p.A425 0.84 "superfamily_SSF48726,HMMPfam_I-set" "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors RORC 6097 broad.mit.edu 36 1 150052047 150052047 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150052047 150052047 G A SNP RORC NM_005060 human genbank 54_36p -1 reviewed missense c.1285 p.H429Y 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors TCHHL1 126637 broad.mit.edu 36 1 150326075 150326075 + Missense_Mutation SNP T T G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150326075 150326075 T G SNP TCHHL1 NM_001008536 human genbank 54_36p -1 provisional missense c.707 p.D236A 0 NULL "PatternScan_S100_CABP,superfamily_SSF47473,HMMPfam_S_100" - no_errors TCHH 7062 broad.mit.edu 36 1 150350676 150350676 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150350676 150350676 C T SNP TCHH NM_007113 human genbank 54_36p -1 provisional silent c.1641 p.E547 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1" - no_errors HRNR 388697 broad.mit.edu 36 1 150459028 150459028 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150459028 150459028 C A SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.1701 p.R567S 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK" - no_errors HRNR 388697 broad.mit.edu 36 1 150459981 150459981 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150459981 150459981 C T SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.748 p.G250S 0 NULL "PatternScan_S100_CABP,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG 2312 broad.mit.edu 36 1 150543512 150543512 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150543512 150543512 C A SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.10474 p.D3492Y 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin" - no_errors FLG 2312 broad.mit.edu 36 1 150545247 150545247 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150545247 150545247 T G SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.8739 p.R2913S 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 broad.mit.edu 36 1 150545296 150545296 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150545296 150545296 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.8690 p.S2897N 0 HMMPfam_Filaggrin "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 broad.mit.edu 36 1 150549287 150549287 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150549287 150549287 G A SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.4699 p.R1567W 0 HMMPfam_Filaggrin "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 broad.mit.edu 36 1 150552420 150552420 + Silent SNP T T G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150552420 150552420 T G SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.1566 p.S522 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 broad.mit.edu 36 1 150554440 150554440 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150554440 150554440 C A SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.117 p.K39N 0 "HMMPfam_S_100,superfamily_SSF47473" "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG2 388698 broad.mit.edu 36 1 150590300 150590300 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150590300 150590300 G T SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.6586 p.H2196N 0.01 NULL "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin" - no_errors FLG2 388698 broad.mit.edu 36 1 150590679 150590679 + Silent SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150590679 150590679 G A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional silent c.6207 p.H2069 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 broad.mit.edu 36 1 150592486 150592486 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150592486 150592486 G A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.4400 p.T1467I 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 broad.mit.edu 36 1 150593692 150593692 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150593692 150593692 C A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.3194 p.G1065V 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 broad.mit.edu 36 1 150595170 150595170 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150595170 150595170 C G SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.1716 p.L572F 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors CRNN 49860 broad.mit.edu 36 1 150649344 150649344 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150649344 150649344 G T SNP CRNN NM_016190 human genbank 54_36p -1 reviewed missense c.838 p.Q280K 0.16 NULL "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors LCE5A 254910 broad.mit.edu 36 1 150750732 150750732 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150750732 150750732 C T SNP LCE5A NM_178438 human genbank 54_36p 1 validated missense c.98 p.P33L 0.28 NULL NULL - no_errors CRCT1 54544 broad.mit.edu 36 1 150754708 150754708 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150754708 150754708 C T SNP CRCT1 NM_019060 human genbank 54_36p 1 validated silent c.225 p.C75 0.03 NULL NULL - no_errors LCE2C 353140 broad.mit.edu 36 1 150915333 150915333 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 150915333 150915333 T G SNP LCE2C NM_178429 human genbank 54_36p 1 validated missense c.218 p.L73R 0.4 NULL NULL - no_errors LCE2B 26239 broad.mit.edu 36 1 150926273 150926273 + Silent SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150926273 150926273 C T SNP LCE2B NM_014357 human genbank 54_36p 1 reviewed silent c.330 p.C110 0.99 NULL NULL - no_errors KPRP 448834 broad.mit.edu 36 1 150999246 150999246 + Silent SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 150999246 150999246 C T SNP KPRP NM_001025231 human genbank 54_36p 1 provisional silent c.558 p.G186 0.02 NULL NULL - no_errors KPRP 448834 broad.mit.edu 36 1 151000175 151000175 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 151000175 151000175 G A SNP KPRP NM_001025231 human genbank 54_36p 1 provisional missense c.1487 p.R496H 0 NULL NULL - no_errors IVL 3713 broad.mit.edu 36 1 151149425 151149425 + Silent SNP G G A rs11205136 "by-cluster,by-2hit-2allele" TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151149425 151149425 G A SNP IVL NM_005547 human genbank 54_36p 1 reviewed silent c.528 p.P176 0 HMMPfam_Involucrin "PatternScan_INVOLUCRIN,HMMPfam_Involucrin_N,HMMPfam_Involucrin" - no_errors SPRR3 6707 broad.mit.edu 36 1 151242154 151242154 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 151242154 151242154 C G SNP SPRR3 NM_001097589 human genbank 54_36p 1 validated missense c.34 p.P12A 0.05 HMMPfam_Cornifin HMMPfam_Cornifin - no_errors SPRR1B 6699 broad.mit.edu 36 1 151271566 151271637 + In_Frame_Del DEL TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA - TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 151271566 151271637 TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA - DEL SPRR1B NM_003125 human genbank 54_36p 1 provisional in_frame_del c.121_192 p.KVPEPCHPKVPEPCQPKVPEPCHP44in_frame_del ############################################################################################################################################################################################################################################################### HMMPfam_Cornifin HMMPfam_Cornifin "(deletion:cds_exon[151271446,151271715])" no_errors SPRR2A 6700 broad.mit.edu 36 1 151295623 151295623 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151295623 151295623 G T SNP SPRR2A NM_005988 human genbank 54_36p -1 validated missense c.213 p.S71R 0.98 NULL NULL - no_errors SPRR2E 6704 broad.mit.edu 36 1 151332732 151332732 + Silent SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151332732 151332732 C T SNP SPRR2E NM_001024209 human genbank 54_36p -1 validated silent c.120 p.K40 0.01 NULL NULL - no_errors PGLYRP3 114771 broad.mit.edu 36 1 151541551 151541551 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151541551 151541551 G T SNP PGLYRP3 NM_052891 human genbank 54_36p -1 provisional missense c.686 p.S229Y 0.97 "HMMSmart_PGRP,superfamily_Amidase_2,HMMSmart_Ami_2,HMMPfam_Amidase_2" "superfamily_Amidase_2,HMMSmart_PGRP,HMMPfam_Amidase_2,HMMSmart_Ami_2" - no_errors PGLYRP4 57115 broad.mit.edu 36 1 151579548 151579548 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151579548 151579548 G A SNP PGLYRP4 NM_020393 human genbank 54_36p -1 validated missense c.757 p.R253C 0.4 "HMMSmart_SM00701,superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00644,HMMPfam_Amidase_2" "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" - no_errors PGLYRP4 57115 broad.mit.edu 36 1 151584458 151584458 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151584458 151584458 G A SNP PGLYRP4 NM_020393 human genbank 54_36p -1 validated missense c.164 p.T55M 0.02 "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701" "HMMPfam_Amidase_2,HMMSmart_SM00644,superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701" - no_errors S100A6 6277 broad.mit.edu 36 1 151774380 151774380 + Silent SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151774380 151774380 G T SNP S100A6 NM_014624 human genbank 54_36p -1 reviewed silent c.60 p.S20 0.81 "superfamily_SSF47473,HMMPfam_S_100" "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1" - no_errors S100A2 6273 broad.mit.edu 36 1 151800573 151800573 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151800573 151800573 T C SNP S100A2 NM_005978 human genbank 54_36p -1 reviewed missense c.260 p.N87S 0.98 superfamily_EF-hand "superfamily_EF-hand,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1" - no_errors NPR1 4881 broad.mit.edu 36 1 151926389 151926389 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151926389 151926389 G A SNP NPR1 NM_000906 human genbank 54_36p 1 validated silent c.2025 p.K675 1 "HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors INTS3 65123 broad.mit.edu 36 1 151991504 151991504 + Silent SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 151991504 151991504 C T SNP INTS3 NM_023015 human genbank 54_36p 1 validated silent c.855 p.F285 1 HMMPfam_DUF2356 HMMPfam_DUF2356 - no_errors CRTC2 200186 broad.mit.edu 36 1 152187415 152187415 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 152187415 152187415 C A SNP CRTC2 NM_181715 human genbank 54_36p -1 provisional missense c.1876 p.G626C 0.98 NULL NULL - no_errors CRTC2 200186 broad.mit.edu 36 1 152188416 152188416 + Silent SNP T T A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152188416 152188416 T A SNP CRTC2 NM_181715 human genbank 54_36p -1 provisional silent c.1473 p.P491 0.81 NULL NULL - no_errors CRTC2 200186 broad.mit.edu 36 1 152192375 152192375 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152192375 152192375 G A SNP CRTC2 NM_181715 human genbank 54_36p -1 provisional nonsense c.598 p.R200* 1 NULL NULL - no_errors ATP8B2 57198 broad.mit.edu 36 1 152569979 152569980 + Missense_Mutation DNP AG AG GC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 152569979 152569980 AG GC DNP ATP8B2 NM_020452 human genbank 54_36p 1 reviewed missense c.254_255 p.Q85R 1.000:1.000 superfamily_SSF81665 "superfamily_SSF81665,superfamily_SSF81653,HMMPfam_E1-E2_ATPase,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3" - no_errors ATP8B2 57198 broad.mit.edu 36 1 152582580 152582580 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152582580 152582580 T C SNP ATP8B2 NM_020452 human genbank 54_36p 1 reviewed missense c.1769 p.L590P 1 "superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665" "HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665" - no_errors SHE 126669 broad.mit.edu 36 1 152728203 152728203 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152728203 152728203 C A SNP SHE NM_001010846 human genbank 54_36p -1 provisional missense c.972 p.E324D 1 NULL "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" - no_errors SHE 126669 broad.mit.edu 36 1 152738320 152738320 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152738320 152738320 A G SNP SHE NM_001010846 human genbank 54_36p -1 provisional missense c.610 p.Y204H 1 NULL "HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550" - no_errors TDRD10 126668 broad.mit.edu 36 1 152783129 152783129 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152783129 152783129 T G SNP TDRD10 NM_001098475 human genbank 54_36p 1 validated missense c.570 p.H190Q 0 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT" - no_errors ADAR 103 broad.mit.edu 36 1 152825367 152825367 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 152825367 152825367 T C SNP ADAR NM_001111 human genbank 54_36p -1 reviewed missense c.3116 p.K1039R 1 "HMMSmart_SM00552,HMMPfam_A_deamin" "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00550,HMMPfam_z-alpha,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00552,HMMPfam_A_deamin" - no_errors ADAR 103 broad.mit.edu 36 1 152829018 152829018 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152829018 152829018 G A SNP ADAR NM_001111 human genbank 54_36p -1 reviewed missense c.2507 p.T836I 0.83 NULL "HMMPfam_z-alpha,HMMSmart_SM00550,HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_A_deamin,HMMSmart_SM00552,superfamily_Winged helix DNA-binding domain,superfamily_dsRNA-binding domain-like" - no_errors ADAR 103 broad.mit.edu 36 1 152840787 152840787 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152840787 152840787 C A SNP ADAR NM_001111 human genbank 54_36p -1 reviewed missense c.955 p.A319S 0.99 "HMMPfam_z-alpha,HMMSmart_SM00550,superfamily_Winged helix DNA-binding domain" "HMMPfam_z-alpha,HMMSmart_SM00550,HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_A_deamin,HMMSmart_SM00552,superfamily_Winged helix DNA-binding domain,superfamily_dsRNA-binding domain-like" - no_errors ADAR 103 broad.mit.edu 36 1 152840993 152840993 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 152840993 152840993 G A SNP ADAR NM_001111 human genbank 54_36p -1 reviewed missense c.749 p.A250V 0 NULL "HMMPfam_z-alpha,HMMSmart_SM00550,HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_A_deamin,HMMSmart_SM00552,superfamily_Winged helix DNA-binding domain,superfamily_dsRNA-binding domain-like" - no_errors FLAD1 80308 broad.mit.edu 36 1 153227530 153227530 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153227530 153227530 C A SNP FLAD1 NM_025207 human genbank 54_36p 1 reviewed missense c.698 p.T233K 0.71 superfamily_Molybdenum cofactor biosynthesis proteins "PatternScan_CARBAMOYLTRANSFERASE,superfamily_Molybdenum cofactor biosynthesis proteins,HMMPfam_MoCF_biosynth,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_PAPS_reduct" - no_errors FLAD1 80308 broad.mit.edu 36 1 153229299 153229299 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 153229299 153229299 A C SNP FLAD1 NM_025207 human genbank 54_36p 1 reviewed missense c.1306 p.I436L 1 "HMMPfam_PAPS_reduct,superfamily_Adenine nucleotide alpha hydrolases-like" "HMMPfam_MoCF_biosynth,superfamily_Molybdenum cofactor biosynthesis proteins,HMMPfam_PAPS_reduct,PatternScan_CARBAMOYLTRANSFERASE,superfamily_Adenine nucleotide alpha hydrolases-like" - no_errors ZBTB7B 51043 broad.mit.edu 36 1 153254223 153254223 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 153254223 153254223 G A SNP ZBTB7B NM_015872 human genbank 54_36p 1 validated missense c.463 p.D155N 0.13 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2" - no_errors DCST2 127579 broad.mit.edu 36 1 153272231 153272231 + Silent SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153272231 153272231 G A SNP DCST2 NM_144622 human genbank 54_36p -1 validated silent c.402 p.T134 0.01 NULL HMMPfam_DC_STAMP - no_errors DCST1 149095 broad.mit.edu 36 1 153280863 153280863 + Silent SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153280863 153280863 G A SNP DCST1 NM_152494 human genbank 54_36p 1 validated silent c.798 p.K266 0.65 NULL HMMPfam_DC_STAMP - no_errors EFNA4 1945 broad.mit.edu 36 1 153308043 153308043 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 153308043 153308043 T C SNP EFNA4 NM_005227 human genbank 54_36p 1 reviewed missense c.560 p.L187S 0.99 NULL "HMMPfam_Ephrin,superfamily_Cupredoxins,PatternScan_EPHRIN" - no_errors THBS3 7059 broad.mit.edu 36 1 153439255 153439255 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153439255 153439255 T C SNP THBS3 NM_007112 human genbank 54_36p -1 reviewed missense c.929 p.N310S 1 "superfamily_EGF/Laminin,HMMSmart_SM00181" "HMMSmart_SM00210,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_EGF_2,superfamily_TSP type-3 repeat,HMMPfam_TSP_3,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_TSP_C" - no_errors GBA 2629 broad.mit.edu 36 1 153473786 153473786 + Silent SNP T T C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 153473786 153473786 T C SNP GBA NM_000157 human genbank 54_36p -1 reviewed silent c.969 p.Q323 0.77 "HMMPfam_Glyco_hydro_30,superfamily_(Trans)glycosidases" "superfamily_Glycosyl hydrolase domain,HMMPfam_Glyco_hydro_30,superfamily_(Trans)glycosidases" - no_errors FAM189B 10712 broad.mit.edu 36 1 153484651 153484651 + Silent SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153484651 153484651 C G SNP C1orf2 NM_006589 human genbank 54_36p -1 validated silent c.1647 p.R549 0.99 NULL NULL - no_errors SCAMP3 10067 broad.mit.edu 36 1 153494040 153494040 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153494040 153494040 C T SNP SCAMP3 NM_005698 human genbank 54_36p -1 reviewed missense c.550 p.A184T 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors SCAMP3 10067 broad.mit.edu 36 1 153498143 153498143 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153498143 153498143 C G SNP SCAMP3 NM_005698 human genbank 54_36p -1 reviewed missense c.73 p.A25P 1 NULL HMMPfam_SCAMP - no_errors SCAMP3 10067 broad.mit.edu 36 1 153498553 153498553 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153498553 153498553 C G SNP SCAMP3 NM_005698 human genbank 54_36p -1 reviewed missense c.14 p.R5T 0.02 NULL HMMPfam_SCAMP - no_errors PKLR 5313 broad.mit.edu 36 1 153530996 153530996 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153530996 153530996 C A SNP PKLR NM_000298 human genbank 54_36p -1 reviewed missense c.866 p.R289L 1 "superfamily_Phosphoenolpyruvate/pyruvate domain,HMMPfam_PK" "superfamily_Phosphoenolpyruvate/pyruvate domain,HMMPfam_PK,superfamily_PK beta-barrel domain-like,PatternScan_PYRUVATE_KINASE,superfamily_PK C-terminal domain-like,HMMPfam_PK_C" - no_errors RUSC1 23623 broad.mit.edu 36 1 153561519 153561519 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153561519 153561519 C G SNP RUSC1 NM_001105203 human genbank 54_36p 1 validated missense c.1459 p.L487V 1 NULL "HMMPfam_RUN,HMMSmart_SM00593,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors ASH1L 55870 broad.mit.edu 36 1 153715605 153715605 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 153715605 153715605 A G SNP ASH1L NM_018489 human genbank 54_36p -1 reviewed missense c.3680 p.F1227S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ASH1L 55870 broad.mit.edu 36 1 153718701 153718701 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153718701 153718701 G A SNP ASH1L NM_018489 human genbank 54_36p -1 reviewed missense c.584 p.T195I 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DAP3 7818 broad.mit.edu 36 1 153965498 153965498 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153965498 153965498 C T SNP DAP3 NM_004632 human genbank 54_36p 1 reviewed silent c.645 p.S215 1 HMMPfam_DAP3 HMMPfam_DAP3 - no_errors GON4L 54856 broad.mit.edu 36 1 153988537 153988537 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 153988537 153988537 G C SNP GON4L NM_001037533 human genbank 54_36p -1 validated nonsense c.6308 p.S2103* 0.2 NULL "superfamily_PAH2 domain,HMMPfam_PAH,superfamily_Homeodomain-like" - no_errors GON4L 54856 broad.mit.edu 36 1 153993394 153993394 + Silent SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 153993394 153993394 G A SNP GON4L NM_001037533 human genbank 54_36p -1 validated silent c.5496 p.I1832 1 NULL "HMMPfam_PAH,superfamily_PAH2 domain,superfamily_Homeodomain-like" - no_errors GON4L 54856 broad.mit.edu 36 1 153998658 153998658 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 153998658 153998658 C T SNP GON4L NM_001037533 human genbank 54_36p -1 validated missense c.4858 p.D1620N 1 superfamily_PAH2 domain "HMMPfam_PAH,superfamily_PAH2 domain,superfamily_Homeodomain-like" - no_errors GON4L 54856 broad.mit.edu 36 1 154002179 154002179 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154002179 154002179 C T SNP GON4L NM_001037533 human genbank 54_36p -1 validated missense c.3709 p.D1237N 0.26 NULL "HMMPfam_PAH,superfamily_PAH2 domain,superfamily_Homeodomain-like" - no_errors GON4L 54856 broad.mit.edu 36 1 154009625 154009625 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154009625 154009625 G A SNP GON4L NM_001037533 human genbank 54_36p -1 validated missense c.2351 p.A784V 0.26 NULL "HMMPfam_PAH,superfamily_PAH2 domain,superfamily_Homeodomain-like" - no_errors GON4L 54856 broad.mit.edu 36 1 154057945 154057945 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154057945 154057945 G C SNP GON4L NM_001037533 human genbank 54_36p -1 validated missense c.907 p.H303D 1 NULL "HMMPfam_PAH,superfamily_PAH2 domain,superfamily_Homeodomain-like" - no_errors SYT11 23208 broad.mit.edu 36 1 154104980 154104980 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154104980 154104980 C A SNP SYT11 NM_152280 human genbank 54_36p 1 validated missense c.635 p.T212N 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors ARHGEF2 9181 broad.mit.edu 36 1 154188380 154188380 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154188380 154188380 T C SNP ARHGEF2 NM_004723 human genbank 54_36p -1 reviewed missense c.2042 p.N681S 1 NULL "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,superfamily_PH domain-like,HMMSmart_SM00233" - no_errors LMNA 4000 broad.mit.edu 36 1 154374944 154374944 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 154374944 154374944 C A SNP LMNA NM_170707 human genbank 54_36p 1 reviewed missense c.1740 p.N580K 1 NULL "HMMPfam_Filament,PatternScan_IF,superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors SLC25A44 9673 broad.mit.edu 36 1 154446693 154446693 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154446693 154446693 G C SNP SLC25A44 NM_014655 human genbank 54_36p 1 validated missense c.792 p.Q264H 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors PAQR6 79957 broad.mit.edu 36 1 154481219 154481219 + Silent SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 154481219 154481219 G A SNP PAQR6 NM_024897 human genbank 54_36p -1 provisional silent c.399 p.S133 1 HMMPfam_HlyIII HMMPfam_HlyIII - no_errors SMG5 23381 broad.mit.edu 36 1 154496995 154496995 + Silent SNP T T C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154496995 154496995 T C SNP SMG5 NM_015327 human genbank 54_36p -1 validated silent c.2154 p.E718 1 NULL "HMMPfam_EST1,HMMSmart_PINc" - no_errors C1orf85 112770 broad.mit.edu 36 1 154531240 154531240 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154531240 154531240 G A SNP C1orf85 NM_144580 human genbank 54_36p -1 provisional silent c.312 p.P104 0.02 NULL NULL - no_errors C1orf85 112770 broad.mit.edu 36 1 154531311 154531311 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154531311 154531311 C T SNP C1orf85 NM_144580 human genbank 54_36p -1 provisional missense c.241 p.V81I 1 NULL NULL - no_errors CCT3 7203 broad.mit.edu 36 1 154548617 154548617 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 154548617 154548617 C G SNP CCT3 NM_005998 human genbank 54_36p -1 reviewed missense c.994 p.V332L 1 "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029" "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029" - no_errors CCT3 7203 broad.mit.edu 36 1 154555309 154555309 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 154555309 154555309 G C SNP CCT3 NM_005998 human genbank 54_36p -1 reviewed missense c.733 p.L245V 1 "HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849" "PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849" - no_errors RHBG 57127 broad.mit.edu 36 1 154614686 154614686 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154614686 154614686 C A SNP RHBG NM_020407 human genbank 54_36p 1 reviewed missense c.545 p.S182Y 1 "HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)" "HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)" - no_errors RHBG 57127 broad.mit.edu 36 1 154618297 154618297 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154618297 154618297 G T SNP RHBG NM_020407 human genbank 54_36p 1 reviewed missense c.917 p.G306V 1 "HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)" "HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)" - no_errors IQGAP3 128239 broad.mit.edu 36 1 154770282 154770282 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154770282 154770282 C A SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated nonsense c.3883 p.E1295* 1 "superfamily_Rho_GAP,HMMSmart_RasGAP" "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C" - no_errors IQGAP3 128239 broad.mit.edu 36 1 154773631 154773631 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154773631 154773631 G C SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated missense c.3388 p.L1130V 1 "HMMPfam_RasGAP,HMMSmart_RasGAP,superfamily_Rho_GAP" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_RasGAP_C,HMMPfam_CH,HMMSmart_CH,HMMPfam_RasGAP,HMMSmart_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_Rho_GAP,superfamily_Calponin-homology,superfamily_SSF52540" - no_errors GPATCH4 54865 broad.mit.edu 36 1 154835451 154835451 + Silent SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154835451 154835451 G A SNP GPATCH4 NM_182679 human genbank 54_36p -1 validated silent c.12 p.T4 0.28 NULL "HMMSmart_SM00443,HMMPfam_G-patch" - no_errors BCAN 63827 broad.mit.edu 36 1 154883437 154883437 + Nonsense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154883437 154883437 C G SNP BCAN NM_021948 human genbank 54_36p 1 validated nonsense c.312 p.Y104* 0.96 "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406" ############################################################################################################################################################################################################################################################### - no_errors BCAN 63827 broad.mit.edu 36 1 154888064 154888064 + Missense_Mutation SNP C C G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 154888064 154888064 C G SNP BCAN NM_021948 human genbank 54_36p 1 validated missense c.1256 p.S419C 0.08 NULL ############################################################################################################################################################################################################################################################### - no_errors BCAN 63827 broad.mit.edu 36 1 154895500 154895500 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 154895500 154895500 C A SNP BCAN NM_021948 human genbank 54_36p 1 validated missense c.2686 p.R896S 0 NULL ############################################################################################################################################################################################################################################################### - no_errors NES 10763 broad.mit.edu 36 1 154906731 154906731 + Silent SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154906731 154906731 G A SNP NES NM_006617 human genbank 54_36p -1 reviewed silent c.3873 p.L1291 0.05 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors NES 10763 broad.mit.edu 36 1 154907888 154907888 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 154907888 154907888 G C SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.2716 p.P906A 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors NES 10763 broad.mit.edu 36 1 154911706 154911706 + Silent SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154911706 154911706 G T SNP NES NM_006617 human genbank 54_36p -1 reviewed silent c.834 p.I278 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors ISG20L2 81875 broad.mit.edu 36 1 154959853 154959853 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 154959853 154959853 A G SNP ISG20L2 NM_030980 human genbank 54_36p -1 provisional missense c.974 p.V325A 1 "superfamily_RNaseH_fold,HMMSmart_EXOIII,HMMPfam_Exonuc_X-T" "superfamily_RNaseH_fold,HMMSmart_EXOIII,HMMPfam_Exonuc_X-T" - no_errors INSRR 3645 broad.mit.edu 36 1 155082117 155082117 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155082117 155082117 C T SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.2092 p.V698I 0.51 "superfamily_FN_III-like,HMMSmart_FN3" ############################################################################################################################################################################################################################################################### - no_errors INSRR 3645 broad.mit.edu 36 1 155085753 155085753 + Silent SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 155085753 155085753 T C SNP INSRR NM_014215 human genbank 54_36p -1 validated silent c.1353 p.E451 0.99 "HMMPfam_Recep_L_domain,superfamily_SSF52058" ############################################################################################################################################################################################################################################################### - no_errors INSRR 3645 broad.mit.edu 36 1 155088088 155088088 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 155088088 155088088 C T SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.1058 p.S353N 1 "HMMPfam_Recep_L_domain,superfamily_SSF52058" ############################################################################################################################################################################################################################################################### - no_errors INSRR 3645 broad.mit.edu 36 1 155090215 155090215 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155090215 155090215 C A SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.590 p.S197I 0.97 "HMMPfam_Furin-like,superfamily_Grow_fac_recept" ############################################################################################################################################################################################################################################################### - no_errors INSRR 3645 broad.mit.edu 36 1 155090390 155090390 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 155090390 155090390 C G SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.415 p.V139L 1 "HMMPfam_Recep_L_domain,superfamily_SSF52058" ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 broad.mit.edu 36 1 155108112 155108112 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 155108112 155108112 C T SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed missense c.791 p.T264M 0.78 superfamily_Immunoglobulin ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 broad.mit.edu 36 1 155112605 155112605 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 155112605 155112605 C A SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed missense c.1611 p.D537E 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 broad.mit.edu 36 1 155112836 155112836 + Silent SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155112836 155112836 G A SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed silent c.1653 p.E551 0.99 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 broad.mit.edu 36 1 155115677 155115677 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 155115677 155115677 C T SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed missense c.1945 p.R649W 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors PEAR1 375033 broad.mit.edu 36 1 155141269 155141269 + Splice_Site SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155141269 155141269 G A SNP PEAR1 NM_001080471 human genbank 54_36p 1 provisional splice_site c.206+1 e2+1 1 - - - no_errors PEAR1 375033 broad.mit.edu 36 1 155143274 155143274 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 155143274 155143274 C T SNP PEAR1 NM_001080471 human genbank 54_36p 1 provisional missense c.622 p.P208S 0.97 "HMMPfam_Laminin_EGF,PatternScan_EGF_1" "HMMPfam_EMI,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_Grow_fac_recept" - no_errors PEAR1 375033 broad.mit.edu 36 1 155149369 155149369 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155149369 155149369 G A SNP PEAR1 NM_001080471 human genbank 54_36p 1 provisional missense c.2393 p.R798H 0.33 superfamily_Grow_fac_recept "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF,superfamily_Grow_fac_recept,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2" - no_errors ARHGEF11 9826 broad.mit.edu 36 1 155177816 155177816 + Silent SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155177816 155177816 A T SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed silent c.3486 p.G1162 0 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,HMMSmart_RGS,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH" - no_errors ARHGEF11 9826 broad.mit.edu 36 1 155184735 155184735 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 155184735 155184735 C G SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed missense c.2105 p.R702T 1 NULL "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_RGS,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729" - no_errors ETV3L 440695 broad.mit.edu 36 1 155335910 155335910 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155335910 155335910 G C SNP ETV3L NM_001004341 human genbank 54_36p -1 provisional missense c.30 p.I10M 0.01 NULL "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors FCRL5 83416 broad.mit.edu 36 1 155757585 155757585 + Silent SNP A A G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 155757585 155757585 A G SNP FCRL5 NM_031281 human genbank 54_36p -1 validated silent c.2361 p.F787 0.34 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL5 83416 broad.mit.edu 36 1 155775561 155775561 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 155775561 155775561 G A SNP FCRL5 NM_031281 human genbank 54_36p -1 validated silent c.1341 p.Y447 0.85 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FCRL5 83416 broad.mit.edu 36 1 155783467 155783467 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 155783467 155783467 A C SNP FCRL5 NM_031281 human genbank 54_36p -1 validated missense c.197 p.I66R 0 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FCRL2 79368 broad.mit.edu 36 1 155985361 155985361 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 155985361 155985361 G A SNP FCRL2 NM_138738 human genbank 54_36p -1 validated missense c.562 p.P188S 0 NULL superfamily_Immunoglobulin - no_errors FCRL1 115350 broad.mit.edu 36 1 156038814 156038814 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 156038814 156038814 C A SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional missense c.584 p.G195V 0.02 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors CD5L 922 broad.mit.edu 36 1 156069752 156069752 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156069752 156069752 C A SNP CD5L NM_005894 human genbank 54_36p -1 validated missense c.893 p.R298L 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CD1D 912 broad.mit.edu 36 1 156419305 156419305 + Silent SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156419305 156419305 C T SNP CD1D NM_001766 human genbank 54_36p 1 reviewed silent c.621 p.A207 0.96 superfamily_SSF48726 "HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" - no_errors CD1C 911 broad.mit.edu 36 1 156526512 156526512 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156526512 156526512 C T SNP CD1C NM_001765 human genbank 54_36p 1 reviewed missense c.34 p.L12F 0 NULL "superfamily_MHC_I/II-like_Ag-recog,HMMPfam_MHC_I,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" - no_errors CD1B 910 broad.mit.edu 36 1 156565384 156565384 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156565384 156565384 G A SNP CD1B NM_001764 human genbank 54_36p -1 reviewed missense c.931 p.P311S 0 NULL "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" - no_errors OR10T2 128360 broad.mit.edu 36 1 156635631 156635631 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156635631 156635631 C T SNP OR10T2 NM_001004475 human genbank 54_36p -1 provisional missense c.250 p.V84I 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10T2 128360 broad.mit.edu 36 1 156635826 156635826 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156635826 156635826 A G SNP OR10T2 NM_001004475 human genbank 54_36p -1 provisional missense c.55 p.S19P 1 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR6Y1 391112 broad.mit.edu 36 1 156783880 156783880 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156783880 156783880 T G SNP OR6Y1 NM_001005189 human genbank 54_36p -1 provisional missense c.640 p.I214L 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10X1 128367 broad.mit.edu 36 1 156816160 156816161 + Nonsense_Mutation DNP GG GG TT novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 156816160 156816161 GG TT DNP OR10X1 NM_001004477 human genbank 54_36p -1 provisional nonsense c.154_153 p.YLL51* 0.028:0.068 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SPTA1 6708 broad.mit.edu 36 1 156879836 156879836 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 156879836 156879836 C A SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.4342 p.G1448W 1 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen" - no_errors SPTA1 6708 broad.mit.edu 36 1 156917982 156917982 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 156917982 156917982 C G SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.490 p.V164L 0.99 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors AIM2 9447 broad.mit.edu 36 1 157302731 157302731 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 157302731 157302731 G T SNP AIM2 NM_004833 human genbank 54_36p -1 reviewed missense c.409 p.Q137K 0.02 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors AIM2 9447 broad.mit.edu 36 1 157309709 157309709 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 1 157309709 157309709 A T SNP AIM2 NM_004833 human genbank 54_36p -1 reviewed missense c.205 p.F69I 0 "HMMPfam_PAAD_DAPIN,superfamily_DEATH_like" "HMMPfam_PAAD_DAPIN,HMMPfam_HIN,superfamily_DEATH_like" - no_errors OR10J3 441911 broad.mit.edu 36 1 157550844 157550844 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 157550844 157550844 G T SNP OR10J3 NM_001004467 human genbank 54_36p -1 provisional missense c.230 p.A77D 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10J3 441911 broad.mit.edu 36 1 157551009 157551009 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 157551009 157551009 C T SNP OR10J3 NM_001004467 human genbank 54_36p -1 provisional missense c.65 p.R22Q 0.49 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR10J1 26476 broad.mit.edu 36 1 157676530 157676530 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 157676530 157676530 A T SNP OR10J1 NM_012351 human genbank 54_36p 1 provisional missense c.358 p.I120F 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10J5 127385 broad.mit.edu 36 1 157772058 157772058 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 157772058 157772058 G A SNP OR10J5 NM_001004469 human genbank 54_36p -1 provisional missense c.364 p.R122C 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors APCS 325 broad.mit.edu 36 1 157824849 157824849 + Silent SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 157824849 157824849 G A SNP APCS NM_001639 human genbank 54_36p 1 reviewed silent c.399 p.L133 0.1 "HMMSmart_PTX,superfamily_ConA_like_lec_gl,HMMPfam_Pentaxin" "HMMSmart_PTX,superfamily_ConA_like_lec_gl,HMMPfam_Pentaxin,PatternScan_PENTAXIN" - no_errors CCDC19 25790 broad.mit.edu 36 1 158124868 158124868 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158124868 158124868 G C SNP CCDC19 NM_012337 human genbank 54_36p -1 validated missense c.315 p.S105R 1 NULL NULL - no_errors IGSF9 57549 broad.mit.edu 36 1 158170866 158170877 + In_Frame_Del DEL AGGGTGGATGCA - AGGGTGGATGCA novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 AGGGTGGATGCA AGGGTGGATGCA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 158170866 158170877 AGGGTGGATGCA - DEL IGSF9 NM_020789 human genbank 54_36p -1 validated in_frame_del c.934_923 p.LHPPS308in_frame_delP 0.989:0.990:1.000:0.998:0.333:0.399:0.293:0.004:0.003:0.008:0.004:0.005 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" "(deletion:cds_exon[158170839,158170984])" no_errors ATP1A4 480 broad.mit.edu 36 1 158395466 158395466 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158395466 158395466 G A SNP ATP1A4 NM_144699 human genbank 54_36p 1 reviewed silent c.576 p.E192 0.05 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A" ############################################################################################################################################################################################################################################################### - no_errors ATP1A4 480 broad.mit.edu 36 1 158411008 158411008 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158411008 158411008 G A SNP ATP1A4 NM_144699 human genbank 54_36p 1 reviewed missense c.2158 p.V720M 1 "HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M" ############################################################################################################################################################################################################################################################### - no_errors CASQ1 844 broad.mit.edu 36 1 158431493 158431493 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 158431493 158431493 A G SNP CASQ1 NM_001231 human genbank 54_36p 1 reviewed missense c.515 p.D172G 1 "HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd" "HMMPfam_Calsequestrin,PatternScan_CALSEQUESTRIN_1,superfamily_Thiordxn-like_fd,PatternScan_CALSEQUESTRIN_2" - no_errors COPA 1314 broad.mit.edu 36 1 158535565 158535565 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158535565 158535565 G A SNP COPA NM_001098398 human genbank 54_36p -1 reviewed missense c.1808 p.P603L 1 HMMPfam_Coatomer_WDAD "HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_Coatomer_WDAD,HMMPfam_COPI_C,superfamily_Calret_calnex_P" - no_errors NHLH1 4807 broad.mit.edu 36 1 158607168 158607168 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158607168 158607168 T C SNP NHLH1 NM_005598 human genbank 54_36p 1 validated missense c.23 p.M8T 0.98 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors CD84 8832 broad.mit.edu 36 1 158801896 158801896 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158801896 158801896 C T SNP CD84 NM_003874 human genbank 54_36p -1 provisional missense c.310 p.A104T 0.01 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors CD84 8832 broad.mit.edu 36 1 158801956 158801956 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 158801956 158801956 G A SNP CD84 NM_003874 human genbank 54_36p -1 provisional missense c.250 p.R84W 0.01 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMSmart_SM00409,superfamily_Immunoglobulin" - no_errors CD48 962 broad.mit.edu 36 1 158948106 158948106 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 158948106 158948106 G A SNP CD48 NM_001778 human genbank 54_36p -1 provisional silent c.72 p.T24 0.11 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors LY9 4063 broad.mit.edu 36 1 159050292 159050292 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159050292 159050292 T A SNP LY9 NM_002348 human genbank 54_36p 1 validated missense c.697 p.S233T 0.01 NULL "HMMSmart_SM00409,superfamily_Immunoglobulin,PatternScan_AA_TRNA_LIGASE_I" - no_errors CD244 51744 broad.mit.edu 36 1 159074894 159074894 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159074894 159074894 C T SNP CD244 NM_016382 human genbank 54_36p -1 validated missense c.805 p.V269I 0.37 NULL superfamily_Immunoglobulin - no_errors F11R 50848 broad.mit.edu 36 1 159257448 159257448 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159257448 159257448 G A SNP F11R NM_016946 human genbank 54_36p -1 reviewed missense c.40 p.L14F 0.01 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors USF1 7391 broad.mit.edu 36 1 159278103 159278103 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159278103 159278103 G A SNP USF1 NM_007122 human genbank 54_36p -1 reviewed missense c.434 p.S145L 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors ARHGAP30 257106 broad.mit.edu 36 1 159289206 159289206 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 159289206 159289206 C T SNP ARHGAP30 NM_001025598 human genbank 54_36p -1 validated missense c.670 p.E224K 0.98 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP30 257106 broad.mit.edu 36 1 159290802 159290802 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 159290802 159290802 C A SNP ARHGAP30 NM_001025598 human genbank 54_36p -1 validated missense c.514 p.V172L 1 "HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP" "HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP" - no_errors PVRL4 81607 broad.mit.edu 36 1 159314045 159314045 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159314045 159314045 G T SNP PVRL4 NM_030916 human genbank 54_36p -1 validated missense c.552 p.D184E 1 "superfamily_SSF48726,HMMPfam_C2-set_2" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig" - no_errors USP21 27005 broad.mit.edu 36 1 159397442 159397442 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 159397442 159397442 C T SNP USP21 NM_001014443 human genbank 54_36p 1 reviewed missense c.388 p.R130C 0.96 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors PPOX 5498 broad.mit.edu 36 1 159407584 159407584 + Silent SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159407584 159407584 C T SNP PPOX NM_000309 human genbank 54_36p 1 reviewed silent c.1428 p.N476 0.58 NULL "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase" - no_errors ADAMTS4 9507 broad.mit.edu 36 1 159430439 159430439 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159430439 159430439 G C SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.1458 p.H486Q 1 HMMSmart_SM00608 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors MPZ 4359 broad.mit.edu 36 1 159542864 159542864 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159542864 159542864 C T SNP MPZ NM_000530 human genbank 54_36p -1 reviewed missense c.493 p.G165R 1 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_Myelin-PO_N,PatternScan_MYELIN_P0" - no_errors FCGR2A 2212 broad.mit.edu 36 1 159747303 159747303 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159747303 159747303 G A SNP FCGR2A NM_021642 human genbank 54_36p 1 reviewed silent c.672 p.A224 0 NULL "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors FCGR3A 2214 broad.mit.edu 36 1 159781170 159781170 + Silent SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159781170 159781170 C T SNP FCGR3A NM_000569 human genbank 54_36p -1 reviewed silent c.630 p.G210 0.01 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors OLFML2B 25903 broad.mit.edu 36 1 160236674 160236675 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 160236674 160236675 CC AA DNP OLFML2B NM_015441 human genbank 54_36p -1 provisional missense c.802_801 p.A268S 0.015:0.042 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors C1orf111 284680 broad.mit.edu 36 1 160610926 160610926 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 160610926 160610926 C T SNP C1orf111 NM_182581 human genbank 54_36p -1 validated missense c.322 p.E108K 0.53 NULL NULL - no_errors UAP1 6675 broad.mit.edu 36 1 160813371 160813371 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 160813371 160813371 A G SNP UAP1 NM_003115 human genbank 54_36p 1 validated missense c.461 p.Y154C 0.96 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP" - no_errors HSD17B7 51478 broad.mit.edu 36 1 161039937 161039937 + Silent SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 161039937 161039937 G A SNP HSD17B7 NM_016371 human genbank 54_36p 1 validated silent c.735 p.P245 0 superfamily_NAD(P)-binding Rossmann-fold domains "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" - no_errors RGS4 5999 broad.mit.edu 36 1 161310852 161310852 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 161310852 161310852 C T SNP RGS4 NM_001102445 human genbank 54_36p 1 reviewed missense c.787 p.R263C 1 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors LRRC52 440699 broad.mit.edu 36 1 163780187 163780187 + Silent SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 163780187 163780187 G T SNP LRRC52 NM_001005214 human genbank 54_36p 1 validated silent c.30 p.G10 0.01 NULL "HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1" - no_errors POGK 57645 broad.mit.edu 36 1 165085973 165085973 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 165085973 165085973 C A SNP POGK NM_017542 human genbank 54_36p 1 reviewed nonsense c.1533 p.Y511* 0.59 HMMPfam_DDE "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMPfam_BrkDBD,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind,HMMSmart_SM00674,HMMPfam_DDE" - no_errors DUSP27 92235 broad.mit.edu 36 1 165362394 165362394 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 165362394 165362394 G A SNP DUSP27 NM_001080426 human genbank 54_36p 1 provisional missense c.1402 p.A468T 0.43 NULL "PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" - no_errors DUSP27 92235 broad.mit.edu 36 1 165363449 165363449 + Silent SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 165363449 165363449 C A SNP DUSP27 NM_001080426 human genbank 54_36p 1 provisional silent c.2457 p.T819 1 NULL "HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799" - no_errors POU2F1 5451 broad.mit.edu 36 1 165610021 165610021 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 165610021 165610021 A T SNP POU2F1 NM_002697 human genbank 54_36p 1 provisional missense c.386 p.Q129L 1 NULL "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors RCSD1 92241 broad.mit.edu 36 1 165933274 165933274 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 165933274 165933274 G T SNP RCSD1 NM_052862 human genbank 54_36p 1 validated missense c.789 p.K263N 0 HMMPfam_RCSD HMMPfam_RCSD - no_errors ADCY10 55811 broad.mit.edu 36 1 166114492 166114492 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 166114492 166114492 C A SNP ADCY10 NM_018417 human genbank 54_36p -1 validated missense c.1222 p.G408C 1 "superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc" "superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,superfamily_TPR-like" - no_errors GPR161 23432 broad.mit.edu 36 1 166340600 166340600 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 166340600 166340600 G C SNP GPR161 NM_153832 human genbank 54_36p -1 provisional missense c.113 p.T38S 0.99 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors XCL2 6846 broad.mit.edu 36 1 166777941 166777941 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 166777941 166777941 C G SNP XCL2 NM_003175 human genbank 54_36p -1 validated missense c.90 p.R30S 0.01 "superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY" "superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY" - no_errors DPT 1805 broad.mit.edu 36 1 166950153 166950153 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 166950153 166950153 C G SNP DPT NM_001937 human genbank 54_36p -1 reviewed missense c.361 p.E121Q 1 NULL NULL - no_errors ATP1B1 481 broad.mit.edu 36 1 167347334 167347334 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 167347334 167347334 C T SNP ATP1B1 NM_001677 human genbank 54_36p 1 reviewed missense c.200 p.T67I 1 HMMPfam_Na_K-ATPase "HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_1,PatternScan_ATPASE_NA_K_BETA_2" - no_errors F5 2153 broad.mit.edu 36 1 167785707 167785707 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 167785707 167785707 G T SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.1567 p.L523I 1 superfamily_Cupredoxins "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors SELP 6403 broad.mit.edu 36 1 167829531 167829531 + Silent SNP A A G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 167829531 167829531 A G SNP SELP NM_003005 human genbank 54_36p -1 reviewed silent c.2343 p.S781 0.15 NULL "HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors SELP 6403 broad.mit.edu 36 1 167832958 167832958 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 167832958 167832958 A T SNP SELP NM_003005 human genbank 54_36p -1 reviewed missense c.1786 p.S596T 0.95 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin" - no_errors SELE 6401 broad.mit.edu 36 1 167963218 167963218 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 167963218 167963218 G C SNP SELE NM_000450 human genbank 54_36p -1 reviewed missense c.1541 p.T514S 0.19 "HMMSmart_SM00181,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" ############################################################################################################################################################################################################################################################### - no_errors SELE 6401 broad.mit.edu 36 1 167968549 167968549 + Silent SNP T T A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 167968549 167968549 T A SNP SELE NM_000450 human genbank 54_36p -1 reviewed silent c.252 p.V84 1 "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" ############################################################################################################################################################################################################################################################### - no_errors C1orf112 55732 broad.mit.edu 36 1 168083561 168083561 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 168083561 168083561 C G SNP C1orf112 NM_018186 human genbank 54_36p 1 predicted missense c.2051 p.A684G 0.97 NULL NULL - no_errors SCYL3 57147 broad.mit.edu 36 1 168090508 168090508 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 168090508 168090508 C T SNP SCYL3 NM_181093 human genbank 54_36p -1 validated missense c.1696 p.E566K 0 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,superfamily_ARM repeat,HMMPfam_HEAT" - no_errors SCYL3 57147 broad.mit.edu 36 1 168091670 168091670 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 168091670 168091670 C G SNP SCYL3 NM_181093 human genbank 54_36p -1 validated missense c.1365 p.L455F 0.61 NULL "HMMPfam_HEAT,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" - no_errors MYOC 4653 broad.mit.edu 36 1 169872085 169872085 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 169872085 169872085 C A SNP MYOC NM_000261 human genbank 54_36p -1 reviewed missense c.1118 p.W373L 1 "HMMPfam_OLF,HMMSmart_SM00284" "HMMPfam_OLF,HMMSmart_SM00284" - no_errors C1orf9 51430 broad.mit.edu 36 1 170787366 170787366 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 170787366 170787366 G A SNP C1orf9 NM_016227 human genbank 54_36p 1 validated missense c.739 p.E247K 1 NULL "superfamily_Gal_bind_like,HMMPfam_Sad1_UNC" - no_errors C1orf9 51430 broad.mit.edu 36 1 170845647 170845647 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 170845647 170845647 A G SNP C1orf9 NM_016227 human genbank 54_36p 1 validated missense c.3843 p.I1281M 0.56 NULL "superfamily_Gal_bind_like,HMMPfam_Sad1_UNC" - no_errors DARS2 55157 broad.mit.edu 36 1 172069149 172069149 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 172069149 172069149 C G SNP DARS2 NM_018122 human genbank 54_36p 1 validated missense c.505 p.L169V 0.99 "superfamily_SSF55681,HMMPfam_tRNA-synt_2" "superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,superfamily_SSF55681,HMMPfam_tRNA-synt_2,superfamily_SSF55261,HMMPfam_GAD" - no_errors ZBTB37 84614 broad.mit.edu 36 1 172106240 172106240 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 172106240 172106240 C A SNP ZBTB37 NM_032522 human genbank 54_36p 1 provisional missense c.254 p.S85Y 0.99 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" - no_errors RC3H1 149041 broad.mit.edu 36 1 172228718 172228718 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 172228718 172228718 T A SNP RC3H1 NM_172071 human genbank 54_36p -1 validated missense c.29 p.D10V 1 superfamily_RING/U-box "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH" - no_errors RABGAP1L 9910 broad.mit.edu 36 1 172456750 172456750 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 172456750 172456750 T G SNP RABGAP1L NM_014857 human genbank 54_36p 1 validated missense c.156 p.D52E 1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors RABGAP1L 9910 broad.mit.edu 36 1 173193654 173193654 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 173193654 173193654 G C SNP RABGAP1L NM_014857 human genbank 54_36p 1 validated missense c.2437 p.V813L 1 NULL "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors TNN 63923 broad.mit.edu 36 1 173315944 173315944 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 173315944 173315944 G C SNP TNN NM_022093 human genbank 54_36p 1 validated missense c.807 p.Q269H 1 "HMMPfam_fn3,HMMSmart_SM00060" ############################################################################################################################################################################################################################################################### - no_errors TNN 63923 broad.mit.edu 36 1 173321172 173321173 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 173321172 173321173 CC AG DNP TNN NM_022093 human genbank 54_36p 1 validated missense c.1243_1244 p.P415R 0.977:0.974 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors TNN 63923 broad.mit.edu 36 1 173329814 173329814 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 173329814 173329814 G A SNP TNN NM_022093 human genbank 54_36p 1 validated missense c.1390 p.D464N 0.97 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors TNN 63923 broad.mit.edu 36 1 173333294 173333294 + Silent SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 173333294 173333294 C T SNP TNN NM_022093 human genbank 54_36p 1 validated silent c.1707 p.D569 0.96 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors TNN 63923 broad.mit.edu 36 1 173363881 173363881 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 173363881 173363881 G A SNP TNN NM_022093 human genbank 54_36p 1 validated missense c.3136 p.G1046S 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors TNR 7143 broad.mit.edu 36 1 173642136 173642136 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 173642136 173642136 G C SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.338 p.T113S 1 NULL "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" - no_errors TNR 7143 broad.mit.edu 36 1 173642441 173642441 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 173642441 173642441 C A SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.33 p.K11N 0.96 NULL "HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_fn3,HMMSmart_SM00060,HMMSmart_SM00181,superfamily_Fibronectin type III,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin" - no_errors PAPPA2 60676 broad.mit.edu 36 1 174931550 174931550 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 174931550 174931550 A G SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.2678 p.Y893C 1 HMMPfam_Peptidase_M43 ############################################################################################################################################################################################################################################################### - no_errors PAPPA2 60676 broad.mit.edu 36 1 175027208 175027217 + Frame_Shift_Del DEL GTGGAGTACA - GTGGAGTACA novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 GTGGAGTACA GTGGAGTACA - - GTGGAGTACA GTGGAGTACA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 175027208 175027217 GTGGAGTACA - DEL PAPPA2 NM_020318 human genbank 54_36p 1 validated frame_shift_del c.4987_4996 p.V1663fs 0.559:0.959:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[175027106,175027241])" no_errors ASTN1 460 broad.mit.edu 36 1 175266704 175266704 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 175266704 175266704 G T SNP ASTN1 NM_004319 human genbank 54_36p -1 validated missense c.873 p.D291E 1 NULL "HMMSmart_EGF,HMMSmart_MACPF,superfamily_FN_III-like,HMMSmart_FN3" - no_errors SEC16B 89866 broad.mit.edu 36 1 176168489 176168489 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 176168489 176168489 G C SNP SEC16B NM_033127 human genbank 54_36p -1 validated missense c.2899 p.L967V 0.23 NULL PatternScan_PHOSPHOPANTETHEINE - no_errors SEC16B 89866 broad.mit.edu 36 1 176183693 176183693 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 176183693 176183693 C G SNP SEC16B NM_033127 human genbank 54_36p -1 validated missense c.1553 p.G518A 1 NULL PatternScan_PHOSPHOPANTETHEINE - no_errors SEC16B 89866 broad.mit.edu 36 1 176194718 176194728 + Frame_Shift_Del DEL CTTATGTACAT - CTTATGTACAT novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W CTTATGTACAT CTTATGTACAT - - CTTATGTACAT CTTATGTACAT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 176194718 176194728 CTTATGTACAT - DEL SEC16B NM_033127 human genbank 54_36p -1 validated frame_shift_del c.1014_1004 p.D335fs 0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:0.994:1.000 NULL PatternScan_PHOSPHOPANTETHEINE "(deletion:cds_exon[176194598,176194733])" no_errors RASAL2 9462 broad.mit.edu 36 1 176535831 176535831 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 176535831 176535831 G T SNP RASAL2 NM_170692 human genbank 54_36p 1 reviewed nonsense c.358 p.E120* 1 "HMMSmart_PH,superfamily_SSF50729" "HMMSmart_PH,superfamily_SSF50729,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" - no_errors FAM20B 9917 broad.mit.edu 36 1 177279714 177279714 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 177279714 177279714 G A SNP FAM20B NM_014864 human genbank 54_36p 1 validated missense c.109 p.D37N 1 NULL HMMPfam_DUF1193 - no_errors ABL2 27 broad.mit.edu 36 1 177362146 177362146 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 177362146 177362146 C T SNP ABL2 NM_007314 human genbank 54_36p -1 reviewed missense c.676 p.A226T 0.95 "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" ############################################################################################################################################################################################################################################################### - no_errors ABL2 27 broad.mit.edu 36 1 177369080 177369080 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 177369080 177369080 G A SNP ABL2 NM_007314 human genbank 54_36p -1 reviewed silent c.210 p.G70 1 NULL ############################################################################################################################################################################################################################################################### - no_errors C1orf125 126859 broad.mit.edu 36 1 177614484 177614484 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 177614484 177614484 A T SNP C1orf125 NM_144696 human genbank 54_36p 1 validated missense c.464 p.Q155L 0.01 NULL HMMPfam_Ax_dynein_light - no_errors TDRD5 163589 broad.mit.edu 36 1 177875804 177875804 + Silent SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 177875804 177875804 C T SNP TDRD5 NM_173533 human genbank 54_36p 1 provisional silent c.1728 p.F576 1 "HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" "HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" - no_errors TDRD5 163589 broad.mit.edu 36 1 177926529 177926529 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 177926529 177926529 G A SNP TDRD5 NM_173533 human genbank 54_36p 1 provisional missense c.2774 p.R925H 0.01 NULL "HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT" - no_errors TOR1AIP2 163590 broad.mit.edu 36 1 178086742 178086742 + Silent SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 178086742 178086742 G C SNP TOR1AIP2 NM_145034 human genbank 54_36p -1 provisional silent c.414 p.A138 0 HMMPfam_LAP1C HMMPfam_LAP1C - no_errors TOR1AIP1 26092 broad.mit.edu 36 1 178153662 178153662 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 178153662 178153662 C A SNP TOR1AIP1 NM_015602 human genbank 54_36p 1 validated missense c.1417 p.Q473K 0.99 HMMPfam_LAP1C HMMPfam_LAP1C - no_errors CEP350 9857 broad.mit.edu 36 1 178346811 178346811 + Silent SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 178346811 178346811 G A SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed silent c.9243 p.L3081 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors LHX4 89884 broad.mit.edu 36 1 178507763 178507763 + Silent SNP A A T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 178507763 178507763 A T SNP LHX4 NM_033343 human genbank 54_36p 1 reviewed silent c.777 p.R259 1 NULL "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ACBD6 84320 broad.mit.edu 36 1 178524220 178524220 + Silent SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 178524220 178524220 G A SNP ACBD6 NM_032360 human genbank 54_36p -1 provisional silent c.750 p.D250 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "PatternScan_ACB_1,HMMPfam_ACBP,superfamily_ACBP,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors KIAA1614 57710 broad.mit.edu 36 1 179153627 179153627 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 179153627 179153627 G T SNP KIAA1614 NM_020950 human genbank 54_36p 1 validated missense c.1015 p.V339L 0.02 NULL NULL - no_errors KIAA1614 57710 broad.mit.edu 36 1 179176913 179176913 + Missense_Mutation SNP T T A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 179176913 179176913 T A SNP KIAA1614 NM_020950 human genbank 54_36p 1 validated missense c.3028 p.F1010I 0.98 NULL NULL - no_errors KIAA1614 57710 broad.mit.edu 36 1 179180170 179180170 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 179180170 179180170 G T SNP KIAA1614 NM_020950 human genbank 54_36p 1 validated missense c.3182 p.R1061L 0.99 NULL NULL - no_errors IER5 51278 broad.mit.edu 36 1 179324748 179324748 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 179324748 179324748 G A SNP IER5 NM_016545 human genbank 54_36p 1 validated silent c.87 p.K29 1 HMMPfam_IER HMMPfam_IER - no_errors CACNA1E 777 broad.mit.edu 36 1 179969302 179969302 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 179969302 179969302 G A SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed missense c.3055 p.V1019M 0 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1E 777 broad.mit.edu 36 1 179992811 179992811 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 179992811 179992811 G C SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed missense c.4255 p.V1419L 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1E 777 broad.mit.edu 36 1 180030659 180030659 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 180030659 180030659 T C SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed missense c.5935 p.S1979P 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors ZNF648 127665 broad.mit.edu 36 1 180293674 180293674 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 180293674 180293674 T C SNP ZNF648 NM_001009992 human genbank 54_36p -1 provisional missense c.95 p.N32S 0 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NPL 80896 broad.mit.edu 36 1 181054357 181054357 + Silent SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 181054357 181054357 G A SNP NPL NM_030769 human genbank 54_36p 1 provisional silent c.516 p.L172 1 "HMMPfam_DHDPS,superfamily_Aldolase" "HMMPfam_DHDPS,superfamily_Aldolase" - no_errors DHX9 1660 broad.mit.edu 36 1 181089175 181089189 + Splice_Site DEL CGGTAAGGCCAGCAC - CGGTAAGGCCAGCAC novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W CGGTAAGGCCAGCAC CGGTAAGGCCAGCAC - - CGGTAAGGCCAGCAC CGGTAAGGCCAGCAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 181089175 181089189 CGGTAAGGCCAGCAC - DEL DHX9 NM_001357 human genbank 54_36p 1 reviewed splice_site_del c.476_477 p.A159fs 1.000:1.000 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[181089064,181089176], intron[181089177,181089787])" no_errors LAMC1 3915 broad.mit.edu 36 1 181378499 181378499 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 181378499 181378499 A C SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.4781 p.K1594T 1 NULL "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B,PatternScan_EGF_2" - no_errors NCF2 4688 broad.mit.edu 36 1 181801516 181801516 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 181801516 181801516 C T SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.946 p.D316N 0.71 superfamily_SH3 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1" - no_errors RGL1 23179 broad.mit.edu 36 1 182140664 182140664 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 182140664 182140664 A C SNP RGL1 NM_015149 human genbank 54_36p 1 validated missense c.1513 p.M505L 1 "superfamily_Ras GEF,HMMSmart_SM00147" "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314" - no_errors EDEM3 80267 broad.mit.edu 36 1 182930071 182930071 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 182930071 182930071 C T SNP EDEM3 NM_025191 human genbank 54_36p -1 validated missense c.2419 p.A807T 0.05 NULL "superfamily_Seven-hairpin glycosidases,HMMPfam_Glyco_hydro_47,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,PatternScan_ER_TARGET" - no_errors C1orf25 81627 broad.mit.edu 36 1 183379689 183379689 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 183379689 183379689 A G SNP C1orf25 NM_030934 human genbank 54_36p -1 reviewed missense c.751 p.Y251H 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM" "HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM" - no_errors HMCN1 83872 broad.mit.edu 36 1 184100339 184100339 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184100339 184100339 C A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.454 p.L152I 1 superfamily_vWA-like ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184101573 184101573 + Silent SNP A A C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184101573 184101573 A C SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.576 p.T192 1 superfamily_vWA-like ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184164386 184164386 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184164386 184164386 G T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.1516 p.G506C 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184223241 184223241 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 184223241 184223241 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.2990 p.P997L 0.97 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184274722 184274722 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184274722 184274722 C G SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.5990 p.A1997G 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184301077 184301077 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184301077 184301077 G A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.7598 p.R2533H 0.95 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184326562 184326562 + Silent SNP T T C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184326562 184326562 T C SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.9777 p.L3259 0.99 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 broad.mit.edu 36 1 184350680 184350680 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184350680 184350680 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed nonsense c.11383 p.R3795* 1 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors TPR 7175 broad.mit.edu 36 1 184579221 184579221 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 184579221 184579221 G A SNP TPR NM_003292 human genbank 54_36p -1 reviewed nonsense c.3610 p.R1204* 1 HMMPfam_TPR_MLP1_2 "superfamily_Prefoldin,HMMPfam_TPR_MLP1_2" - no_errors FAM5C 339479 broad.mit.edu 36 1 188500691 188500691 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 188500691 188500691 G A SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.545 p.A182V 1 HMMSmart_SM00457 "HMMPfam_MACPF,HMMSmart_SM00457" - no_errors UCHL5 51377 broad.mit.edu 36 1 191285522 191285522 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 191285522 191285522 C G SNP UCHL5 NM_015984 human genbank 54_36p -1 validated missense c.223 p.D75H 1 "HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases" "HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases" - no_errors B3GALT2 8707 broad.mit.edu 36 1 191416309 191416309 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 191416309 191416309 C A SNP B3GALT2 NM_003783 human genbank 54_36p -1 reviewed missense c.1007 p.R336L 1 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors B3GALT2 8707 broad.mit.edu 36 1 191416457 191416457 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 191416457 191416457 C T SNP B3GALT2 NM_003783 human genbank 54_36p -1 reviewed missense c.859 p.A287T 1 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors KCNT2 343450 broad.mit.edu 36 1 194516679 194516679 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 194516679 194516679 A C SNP KCNT2 NM_198503 human genbank 54_36p -1 validated missense c.2844 p.C948W 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a" - no_errors CFH 3075 broad.mit.edu 36 1 194962575 194962575 + Silent SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 194962575 194962575 C A SNP CFH NM_000186 human genbank 54_36p 1 reviewed silent c.2118 p.S706 0.16 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CFHR3 10878 broad.mit.edu 36 1 195025979 195025979 + Silent SNP A A T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 195025979 195025979 A T SNP CFHR3 NM_021023 human genbank 54_36p 1 validated silent c.795 p.I265 0.01 superfamily_Complement_control_module "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors ASPM 259266 broad.mit.edu 36 1 195337700 195337700 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 195337700 195337700 A G SNP ASPM NM_018136 human genbank 54_36p -1 validated missense c.7304 p.I2435T 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" - no_errors ASPM 259266 broad.mit.edu 36 1 195381893 195381893 + Splice_Site SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 195381893 195381893 C A SNP ASPM NM_018136 human genbank 54_36p -1 validated splice_site c.297+1 e1+1 0.68 - - - no_errors ZBTB41 360023 broad.mit.edu 36 1 195435724 195435724 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 195435724 195435724 A C SNP ZBTB41 NM_194314 human genbank 54_36p -1 validated missense c.503 p.I168R 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors CRB1 23418 broad.mit.edu 36 1 195583110 195583110 + Missense_Mutation SNP C C T rs62636263 Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 195583110 195583110 C T SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.866 p.T289M 0 "HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF" ############################################################################################################################################################################################################################################################### - no_errors CRB1 23418 broad.mit.edu 36 1 195657365 195657365 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 195657365 195657365 C G SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.1784 p.A595G 0 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CRB1 23418 broad.mit.edu 36 1 195663207 195663207 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 195663207 195663207 A G SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.2129 p.E710G 0.99 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors DENND1B 163486 broad.mit.edu 36 1 195747698 195747698 + Splice_Site SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 195747698 195747698 C T SNP uc001gud.2 ENST00000294737 human ensembl 54_36p -1 known splice_site c.291-1 e5-1 1 - - - no_errors LHX9 56956 broad.mit.edu 36 1 196153671 196153671 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 196153671 196153671 G T SNP LHX9 NM_020204 human genbank 54_36p 1 reviewed missense c.95 p.G32V 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PTPRC 5788 broad.mit.edu 36 1 196964122 196964122 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 196964122 196964122 C T SNP PTPRC NM_002838 human genbank 54_36p 1 reviewed missense c.1745 p.A582V 0.51 NULL "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors ZNF281 23528 broad.mit.edu 36 1 198643191 198643191 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 198643191 198643191 G T SNP ZNF281 NM_012482 human genbank 54_36p -1 provisional missense c.2266 p.H756N 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors KIF14 9928 broad.mit.edu 36 1 198789432 198789432 + Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 198789432 198789432 G A SNP KIF14 NM_014875 human genbank 54_36p -1 validated missense c.4654 p.P1552S 0 NULL "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA" - no_errors DDX59 83479 broad.mit.edu 36 1 198886348 198886348 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 198886348 198886348 A G SNP DDX59 NM_001031725 human genbank 54_36p -1 validated missense c.1142 p.I381T 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "HMMPfam_zf-HIT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors CAMSAP1L1 23271 broad.mit.edu 36 1 198996695 198996695 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 198996695 198996695 G T SNP CAMSAP1L1 NM_203459 human genbank 54_36p 1 validated missense c.245 p.C82F 1 NULL "superfamily_Calponin-homology domain CH-domain,superfamily_PRC-barrel domain,HMMPfam_DUF1781" - no_errors CAMSAP1L1 23271 broad.mit.edu 36 1 199085868 199085868 + Silent SNP C C A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 199085868 199085868 C A SNP CAMSAP1L1 NM_203459 human genbank 54_36p 1 validated silent c.3348 p.S1116 1 NULL "superfamily_PRC-barrel domain,HMMPfam_DUF1781,superfamily_Calponin-homology domain CH-domain" - no_errors GPR25 2848 broad.mit.edu 36 1 199109766 199109766 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 199109766 199109766 C T SNP GPR25 NM_005298 human genbank 54_36p 1 provisional silent c.978 p.T326 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors C1orf106 55765 broad.mit.edu 36 1 199143622 199143622 + Silent SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 199143622 199143622 G T SNP C1orf106 NM_018265 human genbank 54_36p 1 validated silent c.813 p.G271 0.21 NULL NULL - no_errors KIF21B 23046 broad.mit.edu 36 1 199239430 199239430 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 199239430 199239430 C G SNP KIF21B NM_017596 human genbank 54_36p -1 provisional missense c.1119 p.K373N 1 HMMSmart_KISc "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CACNA1S 779 broad.mit.edu 36 1 199306144 199306144 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 199306144 199306144 C T SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed missense c.2239 p.E747K 1 NULL "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1S 779 broad.mit.edu 36 1 199313732 199313732 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 199313732 199313732 C A SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed missense c.1517 p.S506I 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324" - no_errors CACNA1S 779 broad.mit.edu 36 1 199327779 199327779 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 199327779 199327779 T G SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed missense c.485 p.K162T 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324" - no_errors CACNA1S 779 broad.mit.edu 36 1 199327795 199327795 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 199327795 199327795 C T SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed missense c.469 p.A157T 0.99 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324" - no_errors IGFN1 91156 broad.mit.edu 36 1 199449280 199449280 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 199449280 199449280 G A SNP IGFN1 NM_178275 human genbank 54_36p 1 validated missense c.116 p.R39K 0 NULL "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2" - no_errors IGFN1 91156 broad.mit.edu 36 1 199450000 199450000 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 199450000 199450000 G T SNP IGFN1 NM_178275 human genbank 54_36p 1 validated missense c.281 p.C94F 1 "HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726" "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726" - no_errors PKP1 5317 broad.mit.edu 36 1 199553426 199553426 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 199553426 199553426 G T SNP PKP1 NM_000299 human genbank 54_36p 1 reviewed missense c.950 p.R317M 0.99 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors NAV1 89796 broad.mit.edu 36 1 200016216 200016219 + Frame_Shift_Del DEL CAGA - CAGA novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W CAGA CAGA - - CAGA CAGA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 200016216 200016219 CAGA - DEL NAV1 NM_020443 human genbank 54_36p 1 reviewed frame_shift_del c.1271_1274 p.D425fs 0.976:0.447:1.000:1.000 NULL "PatternScan_PPASE,superfamily_SSF52540,HMMSmart_AAA" "(deletion:cds_exon[200016172,200016310])" no_errors ELF3 1999 broad.mit.edu 36 1 200246975 200246975 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 200246975 200246975 C T SNP ELF3 NM_004433 human genbank 54_36p 1 validated missense c.88 p.P30S 0.01 superfamily_SAM/Pointed domain "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413" - no_errors GPR37L1 9283 broad.mit.edu 36 1 200363835 200363843 + In_Frame_Del DEL CAGTCACCT - CAGTCACCT novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D CAGTCACCT CAGTCACCT - - CAGTCACCT CAGTCACCT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 200363835 200363843 CAGTCACCT - DEL GPR37L1 NM_004767 human genbank 54_36p 1 validated in_frame_del c.974_982 p.TVTC325in_frame_delS 0.996:0.060:0.641:0.925:0.933:0.978:0.993:0.999:1.000 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "(deletion:cds_exon[200363492,200364307])" no_errors LGR6 59352 broad.mit.edu 36 1 200542619 200542619 + Silent SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 200542619 200542619 C T SNP LGR6 NM_001017403 human genbank 54_36p 1 reviewed silent c.1137 p.I379 0.94 "superfamily_RNI-like,HMMSmart_SM00369" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like,HMMSmart_SM00369,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors LGR6 59352 broad.mit.edu 36 1 200550592 200550592 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 200550592 200550592 A G SNP LGR6 NM_001017403 human genbank 54_36p 1 reviewed missense c.1607 p.D536G 1 NULL "HMMPfam_7tm_1,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_Family A G protein-coupled receptor-like" - no_errors PPP1R12B 4660 broad.mit.edu 36 1 200652587 200652587 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 200652587 200652587 G C SNP PPP1R12B NM_032105 human genbank 54_36p 1 reviewed missense c.341 p.R114T 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors PPP1R12B 4660 broad.mit.edu 36 1 200673618 200673618 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 200673618 200673618 C G SNP PPP1R12B NM_032105 human genbank 54_36p 1 reviewed missense c.1301 p.S434C 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors PPP1R12B 4660 broad.mit.edu 36 1 200731221 200731221 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 200731221 200731221 A T SNP PPP1R12B NM_032105 human genbank 54_36p 1 reviewed missense c.2323 p.M775L 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors SYT2 127833 broad.mit.edu 36 1 200838172 200838172 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 200838172 200838172 C T SNP SYT2 NM_177402 human genbank 54_36p -1 validated missense c.590 p.R197Q 0.97 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors KDM5B 10765 broad.mit.edu 36 1 200981711 200981711 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 200981711 200981711 G T SNP JARID1B NM_006618 human genbank 54_36p -1 validated missense c.2221 p.L741I 1 HMMPfam_zf-C5HC2 "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1" - no_errors RABIF 5877 broad.mit.edu 36 1 201124798 201124798 + Silent SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 201124798 201124798 G T SNP RABIF NM_002871 human genbank 54_36p -1 provisional silent c.52 p.R18 0.97 "superfamily_Mss4-like,HMMPfam_Mss4" "superfamily_Mss4-like,HMMPfam_Mss4" - no_errors CYB5R1 51706 broad.mit.edu 36 1 201199452 201199452 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 201199452 201199452 G A SNP CYB5R1 NM_016243 human genbank 54_36p -1 validated missense c.586 p.R196W 1 "superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" "superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" - no_errors CHI3L1 1116 broad.mit.edu 36 1 201416371 201416371 + Silent SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 201416371 201416371 C A SNP CHI3L1 NM_001276 human genbank 54_36p -1 validated silent c.744 p.G248 0.94 "HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat" "PatternScan_CHITINASE_18,HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat,superfamily_SSF54556" - no_errors CHIT1 1118 broad.mit.edu 36 1 201460810 201460810 + Silent SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 201460810 201460810 G A SNP CHIT1 NM_003465 human genbank 54_36p -1 reviewed silent c.303 p.F101 1 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18,superfamily_Chitinase insertion domain,superfamily_Invertebrate chitin-binding proteins,HMMSmart_SM00494,HMMPfam_CBM_14" - no_errors BTG2 7832 broad.mit.edu 36 1 201541360 201541360 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 201541360 201541360 G A SNP BTG2 NM_006763 human genbank 54_36p 1 reviewed missense c.3 p.M1I 0.9 NULL "HMMSmart_btg1,HMMPfam_BTG,PatternScan_BTG_1,PatternScan_BTG_2" - no_errors PRELP 5549 broad.mit.edu 36 1 201719438 201719438 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 201719438 201719438 C T SNP PRELP NM_002725 human genbank 54_36p 1 reviewed missense c.503 p.A168V 0.02 "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369" "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors PRELP 5549 broad.mit.edu 36 1 201719889 201719889 + Silent SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 201719889 201719889 C T SNP PRELP NM_002725 human genbank 54_36p 1 reviewed silent c.954 p.L318 1 "HMMPfam_LRR_1,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like" - no_errors ATP2B4 493 broad.mit.edu 36 1 201975442 201975442 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 201975442 201975442 A T SNP ATP2B4 NM_001684 human genbank 54_36p 1 reviewed missense c.3455 p.E1152V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SOX13 9580 broad.mit.edu 36 1 202350167 202350167 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 202350167 202350167 C G SNP SOX13 NM_005686 human genbank 54_36p 1 reviewed missense c.315 p.N105K 0.98 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors KISS1 3814 broad.mit.edu 36 1 202428580 202428580 + Silent SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 202428580 202428580 G T SNP KISS1 NM_002256 human genbank 54_36p -1 validated silent c.48 p.T16 0.37 NULL NULL - no_errors PLEKHA6 22874 broad.mit.edu 36 1 202481417 202481417 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 202481417 202481417 C T SNP PLEKHA6 NM_014935 human genbank 54_36p -1 validated missense c.1981 p.G661R 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors PLEKHA6 22874 broad.mit.edu 36 1 202503260 202503260 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 202503260 202503260 G C SNP PLEKHA6 NM_014935 human genbank 54_36p -1 validated missense c.246 p.F82L 1 "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors MDM4 4194 broad.mit.edu 36 1 202782580 202782580 + Silent SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 202782580 202782580 G A SNP MDM4 NM_002393 human genbank 54_36p 1 validated silent c.855 p.E285 1 NULL "superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,PatternScan_ZF_RANBP2_1,superfamily_RING/U-box" - no_errors NFASC 23114 broad.mit.edu 36 1 203219849 203219849 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 203219849 203219849 C T SNP NFASC NM_015090 human genbank 54_36p 1 validated missense c.2530 p.R844C 1 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors NUAK2 81788 broad.mit.edu 36 1 203539966 203539966 + Silent SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 203539966 203539966 G C SNP NUAK2 NM_030952 human genbank 54_36p -1 provisional silent c.1122 p.L374 0.96 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors KLHDC8A 55220 broad.mit.edu 36 1 203579005 203579005 + Silent SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 203579005 203579005 G C SNP KLHDC8A NM_018203 human genbank 54_36p -1 provisional silent c.351 p.A117 1 "superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" "superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors SLC45A3 85414 broad.mit.edu 36 1 203898841 203898876 + In_Frame_Del DEL GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC - GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 203898841 203898876 GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC - DEL SLC45A3 NM_033102 human genbank 54_36p -1 validated in_frame_del c.701_666 p.LGPTEPAEGLSA223in_frame_del 0.002:0.010:0.008:0.143:0.161:0.189:0.349:0.371:0.375:0.416:0.408:0.371:0.946:0.941:0.000:0.000:0.000:0.000:0.147:0.162:0.187:0.196:0.196:0.107:0.129:0.000:0.000:0.002:0.000:0.000:0.004:0.008:0.004:0.003:0.001:0.005 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "(deletion:cds_exon[203898584,203899369])" no_errors PM20D1 148811 broad.mit.edu 36 1 204081137 204081137 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 204081137 204081137 C G SNP PM20D1 NM_152491 human genbank 54_36p -1 validated missense c.428 p.G143A 0.97 "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M20" "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Bacterial exopeptidase dimerisation domain" - no_errors SLC26A9 115019 broad.mit.edu 36 1 204171506 204171506 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 204171506 204171506 A T SNP SLC26A9 NM_134325 human genbank 54_36p -1 reviewed missense c.66 p.D22E 0.92 NULL "HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors AVPR1B 553 broad.mit.edu 36 1 204391551 204391551 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 204391551 204391551 T A SNP AVPR1B NM_000707 human genbank 54_36p 1 reviewed missense c.488 p.I163N 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LGTN 1939 broad.mit.edu 36 1 204839560 204839560 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 204839560 204839560 G T SNP LGTN NM_006893 human genbank 54_36p -1 reviewed missense c.1082 p.S361Y 0.98 NULL "superfamily_PUA domain-like,HMMSmart_SM00359,superfamily_SWIB/MDM2 domain,superfamily_eIF1-like,HMMPfam_SUI1" - no_errors IL24 11009 broad.mit.edu 36 1 205142011 205142011 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 205142011 205142011 T A SNP IL24 NM_006850 human genbank 54_36p 1 reviewed missense c.508 p.F170I 0.48 superfamily_4_helix_cytokine "superfamily_4_helix_cytokine,PatternScan_INTERLEUKIN_10" - no_errors PIGR 5284 broad.mit.edu 36 1 205173109 205173109 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 205173109 205173109 C A SNP PIGR NM_002644 human genbank 54_36p -1 provisional missense c.1731 p.K577N 0 NULL "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" - no_errors C1orf116 79098 broad.mit.edu 36 1 205263026 205263026 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 205263026 205263026 A G SNP C1orf116 NM_023938 human genbank 54_36p -1 validated missense c.706 p.S236P 0.01 NULL NULL - no_errors YOD1 55432 broad.mit.edu 36 1 205289203 205289203 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 205289203 205289203 G T SNP YOD1 NM_018566 human genbank 54_36p -1 validated missense c.832 p.P278T 1 NULL "superfamily_Ubiquitin-like,superfamily_Cysteine proteinases,HMMPfam_OTU,PatternScan_ZINC_FINGER_C2H2_1" - no_errors YOD1 55432 broad.mit.edu 36 1 205289356 205289364 + In_Frame_Del DEL TCGATATCT - TCGATATCT novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 TCGATATCT TCGATATCT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 205289356 205289364 TCGATATCT - DEL YOD1 NM_018566 human genbank 54_36p -1 validated in_frame_del c.679_671 p.EISI224in_frame_delV 1.000:0.996:1.000:1.000:0.994:1.000:1.000:1.000:1.000 "superfamily_Cysteine proteinases,HMMPfam_OTU" "superfamily_Ubiquitin-like,superfamily_Cysteine proteinases,HMMPfam_OTU,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[205288988,205289691])" no_errors YOD1 55432 broad.mit.edu 36 1 205290841 205290841 + Missense_Mutation SNP G G C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 205290841 205290841 G C SNP YOD1 NM_018566 human genbank 54_36p -1 validated missense c.158 p.A53G 1 superfamily_Ubiquitin-like "HMMPfam_OTU,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like" - no_errors PFKFB2 5208 broad.mit.edu 36 1 205303127 205303127 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 205303127 205303127 G T SNP PFKFB2 NM_006212 human genbank 54_36p 1 reviewed missense c.325 p.A109S 1 "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like,PatternScan_PG_MUTASE" - no_errors C4BPA 722 broad.mit.edu 36 1 205383942 205383942 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 205383942 205383942 A T SNP C4BPA NM_000715 human genbank 54_36p 1 reviewed missense c.1601 p.E534V 0.65 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CD55 1604 broad.mit.edu 36 1 205562361 205562361 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 205562361 205562361 C A SNP CD55 NM_000574 human genbank 54_36p 1 reviewed missense c.112 p.L38I 0 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CR2 1380 broad.mit.edu 36 1 205706730 205706730 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 205706730 205706730 G T SNP CR2 NM_001006658 human genbank 54_36p 1 validated nonsense c.295 p.G99* 0.09 "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors CR1 1378 broad.mit.edu 36 1 205856626 205856626 + Missense_Mutation SNP A A G rs55770942 Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 205856626 205856626 A G SNP CR1 NM_000651 human genbank 54_36p 1 reviewed missense c.6745 p.I2249V 0.04 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors PLXNA2 5362 broad.mit.edu 36 1 206283066 206283066 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 206283066 206283066 G A SNP PLXNA2 NM_025179 human genbank 54_36p -1 reviewed missense c.3980 p.P1327L 1 HMMPfam_Plexin_cytopl "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors PLXNA2 5362 broad.mit.edu 36 1 206336085 206336085 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 206336085 206336085 C G SNP PLXNA2 NM_025179 human genbank 54_36p -1 reviewed missense c.1894 p.G632R 1 NULL "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat" - no_errors IRF6 3664 broad.mit.edu 36 1 208035326 208035326 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 208035326 208035326 T C SNP IRF6 NM_006147 human genbank 54_36p -1 reviewed missense c.440 p.E147G 1 NULL "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3" - no_errors SYT14 255928 broad.mit.edu 36 1 208261190 208261190 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 208261190 208261190 A T SNP SYT14 NM_153262 human genbank 54_36p 1 validated missense c.410 p.D137V 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors RCOR3 55758 broad.mit.edu 36 1 209552736 209552736 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 209552736 209552736 A G SNP RCOR3 NM_018254 human genbank 54_36p 1 validated missense c.953 p.N318S 1 "superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" "HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors SLC30A1 7779 broad.mit.edu 36 1 209815859 209815865 + Frame_Shift_Del DEL CAGATTC - CAGATTC novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 CAGATTC CAGATTC - - CAGATTC CAGATTC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 209815859 209815865 CAGATTC - DEL SLC30A1 NM_021194 human genbank 54_36p -1 validated frame_shift_del c.1018_1012 p.E338fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Cation_efflux HMMPfam_Cation_efflux "(deletion:cds_exon[209815353,209816254])" no_errors LPGAT1 9926 broad.mit.edu 36 1 210023255 210023255 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 210023255 210023255 C G SNP LPGAT1 NM_014873 human genbank 54_36p -1 validated missense c.666 p.L222F 1 NULL "superfamily_Glycerol-3-phosphate (1)-acyltransferase,HMMSmart_SM00563" - no_errors PPP2R5A 5525 broad.mit.edu 36 1 210596633 210596633 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 1 210596633 210596633 C A SNP PPP2R5A NM_006243 human genbank 54_36p 1 reviewed missense c.970 p.Q324K 1 "superfamily_ARM repeat,HMMPfam_B56" "superfamily_ARM repeat,HMMPfam_B56" - no_errors FAM71A 149647 broad.mit.edu 36 1 210865159 210865159 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 210865159 210865159 A T SNP FAM71A NM_153606 human genbank 54_36p 1 predicted missense c.317 p.K106M 0.14 NULL NULL - no_errors FLVCR1 28982 broad.mit.edu 36 1 211103748 211103748 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 211103748 211103748 A C SNP FLVCR1 NM_014053 human genbank 54_36p 1 validated missense c.797 p.D266A 0.95 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors RPS6KC1 26750 broad.mit.edu 36 1 211480670 211480670 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 211480670 211480670 G A SNP RPS6KC1 NM_012424 human genbank 54_36p 1 validated missense c.1228 p.G410S 1 superfamily_Protein kinase-like (PK-like) "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" - no_errors PROX1 5629 broad.mit.edu 36 1 212236888 212236888 + Silent SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 1 212236888 212236888 C T SNP PROX1 NM_002763 human genbank 54_36p 1 provisional silent c.387 p.C129 1 HMMPfam_Prox1 "HMMPfam_Prox1,superfamily_Homeodomain_like" - no_errors PROX1 5629 broad.mit.edu 36 1 212237324 212237324 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 212237324 212237324 T A SNP PROX1 NM_002763 human genbank 54_36p 1 provisional missense c.823 p.S275T 1 HMMPfam_Prox1 "HMMPfam_Prox1,superfamily_Homeodomain_like" - no_errors PROX1 5629 broad.mit.edu 36 1 212238066 212238066 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 212238066 212238066 C G SNP PROX1 NM_002763 human genbank 54_36p 1 provisional missense c.1565 p.T522R 1 HMMPfam_Prox1 "HMMPfam_Prox1,superfamily_Homeodomain_like" - no_errors PTPN14 5784 broad.mit.edu 36 1 212704749 212704749 + Silent SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 212704749 212704749 G A SNP PTPN14 NM_005401 human genbank 54_36p -1 reviewed silent c.21 p.L7 0.98 NULL "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1" - no_errors CENPF 1063 broad.mit.edu 36 1 212879925 212879925 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 212879925 212879925 C T SNP CENPF NM_016343 human genbank 54_36p 1 reviewed nonsense c.1621 p.Q541* 0.96 NULL "HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F" - no_errors CENPF 1063 broad.mit.edu 36 1 212880170 212880170 + Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 212880170 212880170 G A SNP CENPF NM_016343 human genbank 54_36p 1 reviewed nonsense c.1866 p.W622* 1 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors KCTD3 51133 broad.mit.edu 36 1 213851829 213851829 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 213851829 213851829 A G SNP KCTD3 NM_016121 human genbank 54_36p 1 validated missense c.1505 p.Q502R 1 superfamily_WD40 repeat-like "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1" - no_errors RRP15 51018 broad.mit.edu 36 1 216545005 216545005 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 216545005 216545005 C A SNP RRP15 NM_016052 human genbank 54_36p 1 reviewed missense c.418 p.L140M 1 HMMPfam_Rrp15p HMMPfam_Rrp15p - no_errors RAB3GAP2 25782 broad.mit.edu 36 1 218404757 218404757 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 218404757 218404757 C T SNP RAB3GAP2 NM_012414 human genbank 54_36p -1 validated missense c.3095 p.R1032H 1 NULL NULL - no_errors MARK1 4139 broad.mit.edu 36 1 218875427 218875427 + Silent SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 218875427 218875427 C G SNP MARK1 NM_018650 human genbank 54_36p 1 validated silent c.1209 p.S403 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Kinase associated domain 1 KA1,HMMPfam_KA1" - no_errors HLX 3142 broad.mit.edu 36 1 219119876 219119876 + Silent SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 219119876 219119876 G T SNP HLX NM_021958 human genbank 54_36p 1 validated silent c.54 p.S18 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HLX 3142 broad.mit.edu 36 1 219122164 219122164 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 219122164 219122164 C G SNP HLX NM_021958 human genbank 54_36p 1 validated missense c.808 p.Q270E 1 superfamily_Homeodomain_like "HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1" - no_errors MIA3 375056 broad.mit.edu 36 1 220868349 220868349 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 220868349 220868349 C G SNP MIA3 NM_198551 human genbank 54_36p 1 validated missense c.1164 p.F388L 0.94 NULL "superfamily_SH3-domain,HMMPfam_SH3_2" - no_errors MIA3 375056 broad.mit.edu 36 1 220905509 220905509 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 220905509 220905509 C T SNP MIA3 NM_198551 human genbank 54_36p 1 validated silent c.5649 p.G1883 0 NULL "superfamily_SH3-domain,HMMPfam_SH3_2" - no_errors TLR5 7100 broad.mit.edu 36 1 221351593 221351593 + Silent SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 221351593 221351593 G T SNP TLR5 NM_003268 human genbank 54_36p -1 validated silent c.1404 p.T468 0.01 superfamily_SSF52058 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors TP53BP2 7159 broad.mit.edu 36 1 222052709 222052709 + Silent SNP G G A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 222052709 222052709 G A SNP TP53BP2 NM_001031685 human genbank 54_36p -1 reviewed silent c.1779 p.P593 0.97 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors FBXO28 23219 broad.mit.edu 36 1 222388418 222388418 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 222388418 222388418 A T SNP FBXO28 NM_015176 human genbank 54_36p 1 validated missense c.397 p.N133Y 1 NULL HMMPfam_F-box - no_errors CNIH4 29097 broad.mit.edu 36 1 222614833 222614833 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 222614833 222614833 C T SNP CNIH4 NM_014184 human genbank 54_36p 1 provisional missense c.83 p.S28F 1 HMMPfam_Cornichon HMMPfam_Cornichon - no_errors CNIH4 29097 broad.mit.edu 36 1 222625632 222625632 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 222625632 222625632 C A SNP CNIH4 NM_014184 human genbank 54_36p 1 provisional missense c.276 p.N92K 1 HMMPfam_Cornichon HMMPfam_Cornichon - no_errors LBR 3930 broad.mit.edu 36 1 223664643 223664643 + Silent SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 223664643 223664643 G C SNP LBR NM_002296 human genbank 54_36p -1 reviewed silent c.1287 p.L429 0.32 HMMPfam_ERG4_ERG24 "HMMPfam_LBR_tudor,HMMSmart_TUDOR,HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1,PatternScan_STEROL_REDUCT_2" - no_errors LBR 3930 broad.mit.edu 36 1 223676487 223676487 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 223676487 223676487 G C SNP LBR NM_002296 human genbank 54_36p -1 reviewed missense c.281 p.A94G 0.04 NULL "HMMPfam_ERG4_ERG24,HMMSmart_TUDOR,PatternScan_STEROL_REDUCT_1,PatternScan_STEROL_REDUCT_2,HMMPfam_LBR_tudor" - no_errors EPHX1 2052 broad.mit.edu 36 1 224086101 224086101 + Splice_Site SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 224086101 224086101 A T SNP EPHX1 NM_000120 human genbank 54_36p 1 reviewed splice_site c.184-2 e2-2 0.99 - - - no_errors EPHX1 2052 broad.mit.edu 36 1 224094163 224094163 + Missense_Mutation SNP G G C rs66903687 Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 224094163 224094163 G C SNP EPHX1 NM_000120 human genbank 54_36p 1 reviewed missense c.733 p.G245R 1 "superfamily_SSF53474,HMMPfam_Abhydrolase_1" "superfamily_SSF53474,HMMPfam_EHN,HMMPfam_Abhydrolase_1" - no_errors EPHX1 2052 broad.mit.edu 36 1 224096788 224096788 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 224096788 224096788 G A SNP EPHX1 NM_000120 human genbank 54_36p 1 reviewed missense c.1030 p.G344S 1 "HMMPfam_Abhydrolase_1,superfamily_SSF53474" "HMMPfam_Abhydrolase_1,HMMPfam_EHN,superfamily_SSF53474" - no_errors LEFTY1 10637 broad.mit.edu 36 1 224141128 224141128 + Silent SNP G G T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 224141128 224141128 G T SNP LEFTY1 NM_020997 human genbank 54_36p -1 reviewed silent c.1023 p.V341 1 "superfamily_SSF57501,HMMSmart_TGFB" "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors PARP1 142 broad.mit.edu 36 1 224633543 224633543 + Silent SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 224633543 224633543 G A SNP PARP1 NM_001618 human genbank 54_36p -1 reviewed silent c.1668 p.T556 0.98 "HMMPfam_WGR,HMMSmart_SM00773" ############################################################################################################################################################################################################################################################### - no_errors C1orf95 375057 broad.mit.edu 36 1 224851216 224851216 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 224851216 224851216 C A SNP C1orf95 NM_001003665 human genbank 54_36p 1 predicted missense c.293 p.A98E 0.99 NULL NULL - no_errors C1orf95 375057 broad.mit.edu 36 1 224851224 224851224 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 1 224851224 224851224 C G SNP C1orf95 NM_001003665 human genbank 54_36p 1 predicted missense c.301 p.L101V 1 NULL NULL - no_errors ITPKB 3707 broad.mit.edu 36 1 224989954 224989956 + In_Frame_Del DEL GAG - GAG novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W GAG GAG - - GAG GAG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 224989954 224989956 GAG - DEL ITPKB NM_002221 human genbank 54_36p -1 reviewed in_frame_del c.1829_1827 p.S611in_frame_del 0.998:1.000:1.000 NULL "HMMPfam_IPK,superfamily_SAICAR synthase-like" "(deletion:cds_exon[224989851,224991782])" no_errors CDC42BPA 8476 broad.mit.edu 36 1 225289083 225289083 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 225289083 225289083 C T SNP CDC42BPA NM_003607 human genbank 54_36p -1 reviewed silent c.3267 p.Q1089 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" ############################################################################################################################################################################################################################################################### - no_errors JMJD4 65094 broad.mit.edu 36 1 225987948 225987948 + Silent SNP C C G novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 225987948 225987948 C G SNP JMJD4 NM_023007 human genbank 54_36p -1 provisional silent c.750 p.G250 1 "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors WNT9A 7483 broad.mit.edu 36 1 226176150 226176150 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 226176150 226176150 C T SNP WNT9A NM_003395 human genbank 54_36p -1 validated missense c.790 p.A264T 0.97 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors OBSCN 84033 broad.mit.edu 36 1 226466919 226466919 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 226466919 226466919 G A SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed nonsense c.812 p.W271* 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" ############################################################################################################################################################################################################################################################### - no_errors OBSCN 84033 broad.mit.edu 36 1 226468736 226468736 + Silent SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 226468736 226468736 G T SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed silent c.1497 p.T499 0.08 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors OBSCN 84033 broad.mit.edu 36 1 226471507 226471507 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 226471507 226471507 G T SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.2548 p.G850W 0.52 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors OBSCN 84033 broad.mit.edu 36 1 226536469 226536469 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 226536469 226536469 G A SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.8410 p.A2804T 0.98 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors OBSCN 84033 broad.mit.edu 36 1 226576369 226576369 + Silent SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 226576369 226576369 C A SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed silent c.15204 p.A5068 0.36 NULL ############################################################################################################################################################################################################################################################### - no_errors HIST3H2A 92815 broad.mit.edu 36 1 226711851 226711851 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 226711851 226711851 C T SNP HIST3H2A NM_033445 human genbank 54_36p -1 reviewed silent c.291 p.L97 1 "superfamily_Histone-fold,HMMSmart_SM00414" "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors NUP133 55746 broad.mit.edu 36 1 227697889 227697889 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 227697889 227697889 C T SNP NUP133 NM_018230 human genbank 54_36p -1 reviewed missense c.1022 p.R341Q 0.09 HMMPfam_Nup133_N "HMMPfam_Nup133_N,HMMPfam_Nup133" - no_errors URB2 9816 broad.mit.edu 36 1 227839846 227839846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 227839846 227839846 G A SNP URB2 NM_014777 human genbank 54_36p 1 provisional missense c.2863 p.G955R 0.4 NULL HMMPfam_Urb2 - no_errors GALNT2 2590 broad.mit.edu 36 1 228405525 228405525 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 228405525 228405525 C T SNP GALNT2 NM_004481 human genbank 54_36p 1 reviewed silent c.240 p.D80 1 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors PGBD5 79605 broad.mit.edu 36 1 228564695 228564695 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 228564695 228564695 T C SNP PGBD5 NM_024554 human genbank 54_36p -1 reviewed missense c.368 p.N123S 0.01 NULL NULL - no_errors PGBD5 79605 broad.mit.edu 36 1 228579888 228579888 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 228579888 228579888 G A SNP PGBD5 NM_024554 human genbank 54_36p -1 reviewed nonsense c.103 p.Q35* 0 NULL NULL - no_errors CAPN9 10753 broad.mit.edu 36 1 228992534 228992534 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 228992534 228992534 G A SNP CAPN9 NM_006615 human genbank 54_36p 1 reviewed missense c.1633 p.V545I 0.89 superfamily_EF-hand ############################################################################################################################################################################################################################################################### - no_errors TTC13 79573 broad.mit.edu 36 1 229127284 229127284 + Silent SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 229127284 229127284 C T SNP TTC13 NM_024525 human genbank 54_36p -1 validated silent c.1647 p.S549 0.99 NULL "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2" - no_errors TRIM67 440730 broad.mit.edu 36 1 229417775 229417775 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 229417775 229417775 C A SNP TRIM67 NM_001004342 human genbank 54_36p 1 validated missense c.2318 p.T773N 0.44 NULL ############################################################################################################################################################################################################################################################### - no_errors GNPAT 8443 broad.mit.edu 36 1 229477797 229477797 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 229477797 229477797 T G SNP GNPAT NM_014236 human genbank 54_36p 1 reviewed missense c.1867 p.L623V 0.04 NULL "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" - no_errors SIPA1L2 57568 broad.mit.edu 36 1 230717031 230717031 + Silent SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 230717031 230717031 G C SNP SIPA1L2 NM_020808 human genbank 54_36p -1 validated silent c.678 p.V226 0.09 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors KIAA1804 84451 broad.mit.edu 36 1 231578332 231578332 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 231578332 231578332 C T SNP KIAA1804 NM_032435 human genbank 54_36p 1 validated nonsense c.1723 p.R575* 0.11 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SLC35F3 148641 broad.mit.edu 36 1 232518986 232518986 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 232518986 232518986 C A SNP SLC35F3 NM_173508 human genbank 54_36p 1 provisional missense c.844 p.L282I 1 "superfamily_SSF103481,HMMPfam_DUF6" "superfamily_SSF103481,HMMPfam_DUF6" - no_errors TARBP1 6894 broad.mit.edu 36 1 232631978 232631978 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 232631978 232631978 C T SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed nonsense c.2678 p.W893* 1 NULL "superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase" - no_errors ARID4B 51742 broad.mit.edu 36 1 233412052 233412052 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 233412052 233412052 C T SNP ARID4B NM_016374 human genbank 54_36p -1 reviewed nonsense c.2805 p.W935* 1 NULL "HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors GGPS1 9453 broad.mit.edu 36 1 233565205 233565205 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 233565205 233565205 G C SNP GGPS1 NM_001037277 human genbank 54_36p 1 reviewed missense c.3 p.M1I 1 NULL "superfamily_Terpenoid_synth,HMMPfam_polyprenyl_synt,PatternScan_POLYPRENYL_SYNTHET_1,PatternScan_POLYPRENYL_SYNTHET_2" - no_errors LYST 1130 broad.mit.edu 36 1 233907505 233907505 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 233907505 233907505 T C SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.10838 p.Y3613C 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "PatternScan_COPPER_BLUE,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LYST 1130 broad.mit.edu 36 1 234038960 234038960 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 234038960 234038960 G T SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.1781 p.P594H 1 NULL "HMMPfam_Beach,superfamily_BEACH domain,PatternScan_COPPER_BLUE,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_PH domain-like" - no_errors LYST 1130 broad.mit.edu 36 1 234060259 234060259 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 234060259 234060259 C T SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.82 p.E28K 1 NULL "HMMPfam_Beach,superfamily_BEACH domain,PatternScan_COPPER_BLUE,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_PH domain-like" - no_errors EDARADD 128178 broad.mit.edu 36 1 234712306 234712306 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 234712306 234712306 A C SNP EDARADD NM_145861 human genbank 54_36p 1 reviewed missense c.382 p.K128Q 1 HMMPfam_Death HMMPfam_Death - no_errors HEATR1 55127 broad.mit.edu 36 1 234814953 234814953 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 234814953 234814953 C T SNP HEATR1 NM_018072 human genbank 54_36p -1 validated missense c.2236 p.A746T 0.09 NULL "superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT" - no_errors ACTN2 88 broad.mit.edu 36 1 234987502 234987502 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 234987502 234987502 A G SNP ACTN2 NM_001103 human genbank 54_36p 1 reviewed missense c.2248 p.I750V 1 superfamily_EF-hand ############################################################################################################################################################################################################################################################### - no_errors MTR 4548 broad.mit.edu 36 1 235082450 235082450 + Silent SNP T T C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 235082450 235082450 T C SNP MTR NM_000254 human genbank 54_36p 1 reviewed silent c.1702 p.L568 0.96 "HMMPfam_Pterin_bind,superfamily_Dihydropteroate synthetase-like" ############################################################################################################################################################################################################################################################### - no_errors RYR2 6262 broad.mit.edu 36 1 235560833 235560833 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 1 235560833 235560833 T C SNP RYR2 ENST00000366574 human ensembl 54_36p 1 known missense c.194 p.L65S 1 HMMPfam_Ins145_P3_rec "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR2 6262 broad.mit.edu 36 1 235726661 235726661 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 235726661 235726661 T C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.2189 p.L730P 1 "HMMPfam_SPRY,HMMSmart_SM00449" "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 broad.mit.edu 36 1 235844443 235844443 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 235844443 235844443 G T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5392 p.A1798S 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 broad.mit.edu 36 1 235869021 235869021 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 235869021 235869021 G C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.7012 p.E2338Q 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 broad.mit.edu 36 1 235878517 235878517 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 235878517 235878517 C T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.7493 p.A2498V 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 broad.mit.edu 36 1 235947210 235947210 + Missense_Mutation SNP G G C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 235947210 235947210 G C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.10413 p.K3471N 0.82 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 broad.mit.edu 36 1 236013917 236013917 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 1 236013917 236013917 C T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed silent c.12282 p.I4094 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors ZP4 57829 broad.mit.edu 36 1 236118301 236118301 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 236118301 236118301 G A SNP ZP4 NM_021186 human genbank 54_36p -1 reviewed missense c.533 p.S178F 0.68 "superfamily_Trefoil,HMMSmart_SM00018,HMMPfam_Trefoil" "superfamily_Trefoil,HMMSmart_SM00018,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors CHRM3 1131 broad.mit.edu 36 1 238137855 238137855 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 238137855 238137855 G T SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.481 p.V161F 1 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CHRM3 1131 broad.mit.edu 36 1 238138838 238138838 + Silent SNP A A G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 238138838 238138838 A G SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed silent c.1464 p.K488 0.99 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors FMN2 56776 broad.mit.edu 36 1 238322206 238322206 + Silent SNP C C G rs71168893 Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 238322206 238322206 C G SNP FMN2 NM_020066 human genbank 54_36p 1 validated silent c.603 p.G201 0.37 NULL "PatternScan_LECTIN_LEGUME_BETA,HMMSmart_SM00498,HMMPfam_Drf_FH1,superfamily_Formin homology 2 domain (FH2 domain),HMMPfam_FH2" - no_errors FMN2 56776 broad.mit.edu 36 1 238418141 238418141 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 238418141 238418141 G C SNP FMN2 NM_020066 human genbank 54_36p 1 validated missense c.2371 p.A791P 1 NULL "HMMSmart_SM00498,HMMPfam_Drf_FH1,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain),PatternScan_LECTIN_LEGUME_BETA" - no_errors FMN2 56776 broad.mit.edu 36 1 238437498 238437498 + Silent SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 238437498 238437498 T C SNP FMN2 NM_020066 human genbank 54_36p 1 validated silent c.3192 p.P1064 0.07 "HMMSmart_SM00498,HMMPfam_Drf_FH1" "HMMSmart_SM00498,HMMPfam_Drf_FH1,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain),PatternScan_LECTIN_LEGUME_BETA" - no_errors FMN2 56776 broad.mit.edu 36 1 238437689 238437689 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 238437689 238437689 G C SNP FMN2 NM_020066 human genbank 54_36p 1 validated missense c.3383 p.G1128A 0 "HMMSmart_SM00498,HMMPfam_Drf_FH1" "HMMSmart_SM00498,HMMPfam_Drf_FH1,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain),PatternScan_LECTIN_LEGUME_BETA" - no_errors FMN2 56776 broad.mit.edu 36 1 238438545 238438545 + Silent SNP C C A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 238438545 238438545 C A SNP FMN2 NM_020066 human genbank 54_36p 1 validated silent c.4239 p.G1413 0.95 "HMMSmart_SM00498,superfamily_Formin homology 2 domain (FH2 domain)" "HMMSmart_SM00498,HMMPfam_Drf_FH1,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain),PatternScan_LECTIN_LEGUME_BETA" - no_errors RGS7 6000 broad.mit.edu 36 1 239043642 239043642 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 239043642 239043642 A T SNP RGS7 NM_002924 human genbank 54_36p -1 validated missense c.855 p.S285R 0.99 "superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL" "superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors CHML 1122 broad.mit.edu 36 1 239864667 239864667 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 239864667 239864667 G T SNP CHML NM_001821 human genbank 54_36p -1 reviewed nonsense c.1025 p.S342* 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain" - no_errors CHML 1122 broad.mit.edu 36 1 239864885 239864885 + Silent SNP C C A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 239864885 239864885 C A SNP CHML NM_001821 human genbank 54_36p -1 reviewed silent c.807 p.R269 0.04 "HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors EXO1 9156 broad.mit.edu 36 1 240102020 240102020 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 240102020 240102020 A C SNP EXO1 NM_006027 human genbank 54_36p 1 reviewed missense c.1331 p.K444T 0.93 NULL "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors PLD5 200150 broad.mit.edu 36 1 240319968 240319968 + Silent SNP T T G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 240319968 240319968 T G SNP PLD5 NM_152666 human genbank 54_36p -1 provisional silent c.1146 p.A382 1 superfamily_SSF56024 "superfamily_SSF56024,HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope" - no_errors PLD5 200150 broad.mit.edu 36 1 240330665 240330665 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 240330665 240330665 C G SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.1006 p.E336Q 1 superfamily_SSF56024 "HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope,superfamily_SSF56024" - no_errors PLD5 200150 broad.mit.edu 36 1 240450028 240450028 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 240450028 240450028 G A SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.344 p.T115M 0.94 superfamily_SSF56024 "HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope,superfamily_SSF56024" - no_errors ZNF238 10472 broad.mit.edu 36 1 242284516 242284516 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 242284516 242284516 G A SNP ZNF238 NM_205768 human genbank 54_36p 1 validated missense c.817 p.V273M 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF238 10472 broad.mit.edu 36 1 242284894 242284894 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 242284894 242284894 A T SNP ZNF238 NM_205768 human genbank 54_36p 1 validated missense c.1195 p.S399C 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF238 10472 broad.mit.edu 36 1 242285143 242285143 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 242285143 242285143 C T SNP ZNF238 NM_205768 human genbank 54_36p 1 validated missense c.1444 p.R482C 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors HNRNPU 3192 broad.mit.edu 36 1 243093737 243093737 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 243093737 243093737 G A SNP HNRNPU NM_031844 human genbank 54_36p -1 reviewed missense c.496 p.P166S 1 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,HMMSmart_SM00449,HMMPfam_SPRY,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF26B 55083 broad.mit.edu 36 1 243832597 243832612 + Frame_Shift_Del DEL CTTGTACGATCCCCTG - CTTGTACGATCCCCTG novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W CTTGTACGATCCCCTG CTTGTACGATCCCCTG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 1 243832597 243832612 CTTGTACGATCCCCTG - DEL KIF26B NM_018012 human genbank 54_36p 1 provisional frame_shift_del c.1446_1461 p.Y484fs 0.862:0.850:0.977:0.974:0.995:0.998:0.998:1.000:1.000:0.994:1.000:0.997:0.386:0.408:0.792:0.800 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" "(deletion:cds_exon[243832502,243832708])" no_errors AHCTF1 25909 broad.mit.edu 36 1 245092075 245092075 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 245092075 245092075 C A SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.3544 p.A1182S 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors AHCTF1 25909 broad.mit.edu 36 1 245146189 245146189 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 245146189 245146189 C T SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.253 p.E85K 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors ZNF670 93474 broad.mit.edu 36 1 245267814 245267814 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 245267814 245267814 C T SNP ZNF670 NM_033213 human genbank 54_36p -1 validated missense c.730 p.E244K 0.69 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors VN1R5 317705 broad.mit.edu 36 1 245486642 245486642 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 245486642 245486642 G C SNP VN1R5 NM_173858 human genbank 54_36p 1 validated missense c.646 p.V216L 0 NULL HMMPfam_V1R - pseudogene VN1R5 317705 broad.mit.edu 36 1 245486694 245486694 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 245486694 245486694 C T SNP VN1R5 NM_173858 human genbank 54_36p 1 validated missense c.698 p.P233L 0 NULL HMMPfam_V1R - pseudogene VN1R5 317705 broad.mit.edu 36 1 245486883 245486883 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 245486883 245486883 T C SNP VN1R5 NM_173858 human genbank 54_36p 1 validated missense c.887 p.I296T 0 NULL HMMPfam_V1R - pseudogene NLRP3 114548 broad.mit.edu 36 1 245654785 245654785 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 245654785 245654785 G A SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.1417 p.A473T 1 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1" - no_errors OR2B11 127623 broad.mit.edu 36 1 245681128 245681128 + Silent SNP A A T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 245681128 245681128 A T SNP OR2B11 NM_001004492 human genbank 54_36p -1 provisional silent c.780 p.I260 0.98 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR11L1 391189 broad.mit.edu 36 1 246071712 246071712 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246071712 246071712 A T SNP OR11L1 NM_001001959 human genbank 54_36p -1 provisional missense c.110 p.L37Q 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TRIM58 25893 broad.mit.edu 36 1 246106268 246106268 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 246106268 246106268 C A SNP TRIM58 NM_015431 human genbank 54_36p 1 validated missense c.1315 p.L439I 0.04 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors TRIM58 25893 broad.mit.edu 36 1 246106327 246106327 + Silent SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246106327 246106327 G A SNP TRIM58 NM_015431 human genbank 54_36p 1 validated silent c.1374 p.L458 0 "HMMPfam_SPRY,HMMSmart_SPRY" "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,HMMSmart_PRY,PatternScan_ZF_RING_1,HMMSmart_SPRY,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors OR2W3 343171 broad.mit.edu 36 1 246126017 246126017 + Missense_Mutation SNP G G A rs12083024 "by-frequency,by-hapmap" TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246126017 246126017 G A SNP OR2W3 NM_001001957 human genbank 54_36p 1 provisional missense c.506 p.C169Y 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2L2 26246 broad.mit.edu 36 1 246268229 246268229 + Missense_Mutation SNP T T A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246268229 246268229 T A SNP OR2L2 NM_001004686 human genbank 54_36p 1 provisional missense c.37 p.L13I 0.32 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2L13 284521 broad.mit.edu 36 1 246329995 246329995 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246329995 246329995 G A SNP OR2L13 NM_175911 human genbank 54_36p 1 provisional missense c.695 p.G232E 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2M5 127059 broad.mit.edu 36 1 246375162 246375162 + Silent SNP G G T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246375162 246375162 G T SNP OR2M5 NM_001004690 human genbank 54_36p 1 provisional silent c.90 p.L30 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2M5 127059 broad.mit.edu 36 1 246375175 246375175 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246375175 246375175 T A SNP OR2M5 NM_001004690 human genbank 54_36p 1 provisional missense c.103 p.F35I 0.01 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR2M2 391194 broad.mit.edu 36 1 246409927 246409927 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246409927 246409927 A G SNP OR2M2 NM_001004688 human genbank 54_36p 1 provisional missense c.17 p.Q6R 0.67 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2M2 391194 broad.mit.edu 36 1 246409972 246409972 + Missense_Mutation SNP G G A rs34678055 Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246409972 246409972 G A SNP OR2M2 NM_001004688 human genbank 54_36p 1 provisional missense c.62 p.S21N 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR2M2 391194 broad.mit.edu 36 1 246410342 246410342 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246410342 246410342 G A SNP OR2M2 NM_001004688 human genbank 54_36p 1 provisional missense c.432 p.M144I 0.01 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR2M3 127062 broad.mit.edu 36 1 246433390 246433390 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246433390 246433390 C A SNP OR2M3 NM_001004689 human genbank 54_36p 1 provisional missense c.398 p.T133N 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T12 127064 broad.mit.edu 36 1 246525061 246525061 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246525061 246525061 A T SNP OR2T12 NM_001004692 human genbank 54_36p -1 provisional missense c.443 p.L148H 0.03 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR14C36 127066 broad.mit.edu 36 1 246579363 246579363 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246579363 246579363 A C SNP OR14C36 NM_001001918 human genbank 54_36p 1 provisional missense c.664 p.T222P 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR2T6 254879 broad.mit.edu 36 1 246617796 246617796 + Silent SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246617796 246617796 C T SNP OR2T6 NM_001005471 human genbank 54_36p 1 provisional silent c.264 p.G88 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T2 401992 broad.mit.edu 36 1 246683636 246683636 + Silent SNP A A C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 246683636 246683636 A C SNP OR2T2 NM_001004136 human genbank 54_36p 1 provisional silent c.915 p.V305 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T5 401993 broad.mit.edu 36 1 246718638 246718638 + Silent SNP G G C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 246718638 246718638 G C SNP OR2T5 NM_001004697 human genbank 54_36p 1 provisional silent c.126 p.A42 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T5 401993 broad.mit.edu 36 1 246718654 246718654 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 246718654 246718654 G C SNP OR2T5 NM_001004697 human genbank 54_36p 1 provisional missense c.142 p.V48L 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR2G6 391211 broad.mit.edu 36 1 246751966 246751966 + Silent SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 246751966 246751966 C T SNP OR2G6 NM_001013355 human genbank 54_36p 1 validated silent c.396 p.Y132 0.15 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2G6 391211 broad.mit.edu 36 1 246752338 246752338 + Silent SNP A A T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 246752338 246752338 A T SNP OR2G6 NM_001013355 human genbank 54_36p 1 validated silent c.768 p.I256 0.01 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors SH3BP5L 80851 broad.mit.edu 36 1 247072914 247072914 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 247072914 247072914 G A SNP SH3BP5L NM_030645 human genbank 54_36p -1 provisional silent c.990 p.T330 0.89 NULL HMMPfam_SH3BP5 - no_errors C2orf90 391343 broad.mit.edu 36 2 895896 895896 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 895896 895896 T A SNP LOC391343 NM_001013662 human genbank 54_36p -1 predicted missense c.50 p.H17L 0.26 NULL NULL - no_errors SNTG2 54221 broad.mit.edu 36 2 1069341 1069341 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1069341 1069341 T A SNP SNTG2 ENST00000308624 human ensembl 54_36p 1 known missense c.210 p.N70K 1 superfamily_PDZ domain-like "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors TPO 7173 broad.mit.edu 36 2 1397218 1397218 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1397218 1397218 C G SNP TPO NM_000547 human genbank 54_36p 1 reviewed missense c.31 p.L11V 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors TPO 7173 broad.mit.edu 36 2 1467407 1467407 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1467407 1467407 C T SNP TPO ENST00000308422 human ensembl 54_36p 1 known missense c.391 p.P131S 1 NULL "HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases" - no_start_codon PXDN 7837 broad.mit.edu 36 2 1631032 1631032 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1631032 1631032 T G SNP PXDN NM_012293 human genbank 54_36p -1 validated missense c.3527 p.Y1176S 1 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" ############################################################################################################################################################################################################################################################### - no_errors PXDN 7837 broad.mit.edu 36 2 1649200 1649200 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1649200 1649200 C G SNP PXDN NM_012293 human genbank 54_36p -1 validated missense c.1084 p.E362Q 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors PXDN 7837 broad.mit.edu 36 2 1659804 1659804 + Silent SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1659804 1659804 G C SNP PXDN NM_012293 human genbank 54_36p -1 validated silent c.750 p.S250 0.98 "HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors PXDN 7837 broad.mit.edu 36 2 1670473 1670473 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 1670473 1670473 G A SNP PXDN NM_012293 human genbank 54_36p -1 validated silent c.354 p.Y118 1 "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors MYT1L 23040 broad.mit.edu 36 2 1885923 1885923 + Silent SNP A A G novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1885923 1885923 A G SNP MYT1L NM_015025 human genbank 54_36p -1 validated silent c.1962 p.Y654 1 HMMPfam_MYT1 "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1" - no_errors TTC15 51112 broad.mit.edu 36 2 3370557 3370557 + Silent SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 3370557 3370557 G A SNP TTC15 NM_016030 human genbank 54_36p 1 validated silent c.156 p.S52 0.01 NULL "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors TTC15 51112 broad.mit.edu 36 2 3404746 3404746 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 3404746 3404746 A C SNP TTC15 NM_016030 human genbank 54_36p 1 validated missense c.1252 p.T418P 0.57 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors TTC15 51112 broad.mit.edu 36 2 3448385 3448385 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 3448385 3448385 T C SNP TTC15 NM_016030 human genbank 54_36p 1 validated missense c.1688 p.L563P 1 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors COLEC11 78989 broad.mit.edu 36 2 3669376 3669376 + Silent SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 3669376 3669376 C T SNP COLEC11 NM_024027 human genbank 54_36p 1 validated silent c.609 p.I203 1 "HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C" "HMMPfam_Collagen,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors ALLC 55821 broad.mit.edu 36 2 3707143 3707143 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 3707143 3707143 G C SNP ALLC NM_018436 human genbank 54_36p 1 validated missense c.343 p.A115P 0.89 "superfamily_Gal_bind_like,HMMPfam_Allantoicase" "superfamily_Gal_bind_like,HMMPfam_Allantoicase" - no_errors RSAD2 91543 broad.mit.edu 36 2 6953397 6953397 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 6953397 6953397 C T SNP RSAD2 NM_080657 human genbank 54_36p 1 validated missense c.959 p.P320L 1 NULL "superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM" - no_errors KIDINS220 57498 broad.mit.edu 36 2 8858020 8858020 + Silent SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 8858020 8858020 C T SNP KIDINS220 NM_020738 human genbank 54_36p -1 validated silent c.861 p.A287 0.98 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_KAP_NTPase,superfamily_SAM/Pointed domain" - no_errors KLF11 8462 broad.mit.edu 36 2 10103747 10103747 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 10103747 10103747 G A SNP KLF11 NM_003597 human genbank 54_36p 1 validated missense c.62 p.C21Y 0.98 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors KLF11 8462 broad.mit.edu 36 2 10103874 10103874 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 10103874 10103874 A T SNP KLF11 NM_003597 human genbank 54_36p 1 validated missense c.189 p.K63N 0.85 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors KCNF1 3754 broad.mit.edu 36 2 10970756 10970756 + Silent SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 10970756 10970756 G A SNP KCNF1 NM_002236 human genbank 54_36p 1 reviewed silent c.753 p.A251 0.86 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_POZ domain,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCNF1 3754 broad.mit.edu 36 2 10971379 10971379 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 10971379 10971379 A C SNP KCNF1 NM_002236 human genbank 54_36p 1 reviewed missense c.1376 p.K459T 0.63 NULL "HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels" - no_errors GREB1 9687 broad.mit.edu 36 2 11672796 11672796 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 11672796 11672796 A T SNP GREB1 NM_014668 human genbank 54_36p 1 reviewed missense c.3251 p.N1084I 0.08 NULL NULL - no_errors LPIN1 23175 broad.mit.edu 36 2 11860585 11860585 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 11860585 11860585 C A SNP LPIN1 NM_145693 human genbank 54_36p 1 reviewed missense c.1880 p.T627N 1 NULL "HMMPfam_Lipin_N,superfamily_SSF56784,HMMPfam_LNS2,HMMSmart_LNS2" - no_errors LPIN1 23175 broad.mit.edu 36 2 11862055 11862055 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 11862055 11862055 A G SNP LPIN1 NM_145693 human genbank 54_36p 1 reviewed missense c.1961 p.Q654R 1 NULL "HMMPfam_Lipin_N,HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784" - no_errors NBAS 51594 broad.mit.edu 36 2 15247963 15247963 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 15247963 15247963 T A SNP NBAS NM_015909 human genbank 54_36p -1 validated missense c.6448 p.I2150F 0.96 NULL "superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14" - no_errors DDX1 1653 broad.mit.edu 36 2 15677834 15677834 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 15677834 15677834 G A SNP DDX1 NM_004939 human genbank 54_36p 1 reviewed missense c.1258 p.E420K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMPfam_SPRY,HMMSmart_SM00449,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors VSNL1 7447 broad.mit.edu 36 2 17636864 17636864 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 17636864 17636864 G T SNP VSNL1 NM_003385 human genbank 54_36p 1 reviewed missense c.42 p.E14D 1 superfamily_EF-hand "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors GEN1 348654 broad.mit.edu 36 2 17806287 17806287 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 17806287 17806287 C G SNP GEN1 NM_182625 human genbank 54_36p 1 validated missense c.305 p.S102C 0.17 superfamily_PIN domain-like "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,HMMSmart_SM00484,HMMPfam_XPG_I,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors GEN1 348654 broad.mit.edu 36 2 17826623 17826623 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 17826623 17826623 G C SNP GEN1 NM_182625 human genbank 54_36p 1 validated missense c.2663 p.G888A 0 NULL "HMMPfam_XPG_N,HMMSmart_SM00485,HMMPfam_XPG_I,HMMSmart_SM00484,HMMSmart_SM00279,superfamily_5' to 3' exonuclease C-terminal subdomain,superfamily_PIN domain-like" - no_errors KCNS3 3790 broad.mit.edu 36 2 17976252 17976252 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 17976252 17976252 C G SNP KCNS3 NM_002252 human genbank 54_36p 1 reviewed missense c.496 p.Q166E 0.98 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNS3 3790 broad.mit.edu 36 2 17976259 17976259 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 17976259 17976259 G A SNP KCNS3 NM_002252 human genbank 54_36p 1 reviewed missense c.503 p.R168Q 1 NULL "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KCNS3 3790 broad.mit.edu 36 2 17976889 17976889 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 17976889 17976889 C T SNP KCNS3 NM_002252 human genbank 54_36p 1 reviewed missense c.1133 p.P378L 0.99 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors OSR1 130497 broad.mit.edu 36 2 19415536 19415536 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 19415536 19415536 G T SNP OSR1 NM_145260 human genbank 54_36p -1 validated missense c.782 p.T261N 1 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors WDR35 57539 broad.mit.edu 36 2 19977517 19977517 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 19977517 19977517 G C SNP WDR35 NM_001006657 human genbank 54_36p -1 reviewed missense c.3157 p.L1053V 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors LAPTM4A 9741 broad.mit.edu 36 2 20104232 20104232 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 20104232 20104232 T G SNP LAPTM4A NM_014713 human genbank 54_36p -1 reviewed missense c.133 p.I45L 1 HMMPfam_Mtp HMMPfam_Mtp - no_errors SDC1 6382 broad.mit.edu 36 2 20267222 20267222 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 20267222 20267222 G A SNP SDC1 NM_001006946 human genbank 54_36p -1 reviewed missense c.460 p.H154Y 0.03 HMMPfam_Syndecan "HMMPfam_Syndecan,HMMSmart_4.1m,PatternScan_SYNDECAN" - no_errors APOB 338 broad.mit.edu 36 2 21078462 21078462 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 21078462 21078462 C G SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.13337 p.R4446T 0 NULL "superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081" - no_errors APOB 338 broad.mit.edu 36 2 21079001 21079001 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 21079001 21079001 G C SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.12798 p.I4266M 0 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 broad.mit.edu 36 2 21079460 21079484 + Frame_Shift_Del DEL CTCAGCATTGTTCTGCAGATTTCTT - CTCAGCATTGTTCTGCAGATTTCTT novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 CTCAGCATTGTTCTGCAGATTTCTT CTCAGCATTGTTCTGCAGATTTCTT - - CTCAGCATTGTTCTGCAGATTTCTT CTCAGCATTGTTCTGCAGATTTCTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 21079460 21079484 CTCAGCATTGTTCTGCAGATTTCTT - DEL APOB NM_000384 human genbank 54_36p -1 reviewed frame_shift_del c.12339_12315 p.R4105fs 0.000:0.145:0.175:0.170:0.157:0.130:0.003:0.000:0.001:0.000:0.000:0.000:0.005:0.013:0.007:0.001:0.015:0.009:0.005:0.008:0.020:0.020:0.017:0.013:0.012 NULL "superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081" "(deletion:cds_exon[21078107,21079711])" no_errors APOB 338 broad.mit.edu 36 2 21079652 21079652 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 21079652 21079652 A T SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.12147 p.D4049E 0.09 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 broad.mit.edu 36 2 21083983 21083983 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 21083983 21083983 G T SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.9262 p.Q3088K 0.87 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 broad.mit.edu 36 2 21084376 21084376 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 21084376 21084376 A T SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.8869 p.F2957I 0 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 broad.mit.edu 36 2 21088287 21088287 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 21088287 21088287 G T SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.4958 p.S1653Y 0.8 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 broad.mit.edu 36 2 21088990 21088990 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 21088990 21088990 T C SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.4255 p.T1419A 0.29 NULL "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors APOB 338 broad.mit.edu 36 2 21095401 21095401 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 21095401 21095401 A C SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.3089 p.V1030G 1 HMMPfam_DUF1081 "HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain" - no_errors ITSN2 50618 broad.mit.edu 36 2 24378344 24378344 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 24378344 24378344 G C SNP ITSN2 NM_006277 human genbank 54_36p -1 reviewed missense c.986 p.S329C 0.98 "superfamily_EF-hand,HMMSmart_SM00027" ############################################################################################################################################################################################################################################################### - no_errors NCOA1 8648 broad.mit.edu 36 2 24759360 24759360 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 24759360 24759360 G T SNP NCOA1 NM_003743 human genbank 54_36p 1 reviewed missense c.391 p.G131W 1 "HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain)" ############################################################################################################################################################################################################################################################### - no_errors CENPO 79172 broad.mit.edu 36 2 24876153 24876153 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 24876153 24876153 A T SNP CENPO NM_024322 human genbank 54_36p 1 provisional missense c.152 p.K51M 0.02 NULL HMMPfam_Cenp-O - no_errors ADCY3 109 broad.mit.edu 36 2 24995288 24995288 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture Broad454 Illumina GAIIx 2 24995288 24995288 G A SNP ADCY3 NM_004036 human genbank 54_36p -1 reviewed missense c.73 p.P25S 1 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors POMC 5443 broad.mit.edu 36 2 25241012 25241012 + Splice_Site SNP A A C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 25241012 25241012 A C SNP POMC NM_000939 human genbank 54_36p -1 reviewed splice_site c.132+2 e1+2 1 - - - no_errors DTNB 1838 broad.mit.edu 36 2 25531778 25531778 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 25531778 25531778 C T SNP DTNB NM_021907 human genbank 54_36p -1 reviewed missense c.1169 p.R390H 1 NULL "superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors KIF3C 3797 broad.mit.edu 36 2 26030759 26030759 + Splice_Site SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26030759 26030759 C T SNP KIF3C NM_002254 human genbank 54_36p -1 validated splice_site c.1771-1 e4-1 1 - - - no_errors KIF3C 3797 broad.mit.edu 36 2 26056956 26056956 + Silent SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26056956 26056956 G T SNP KIF3C NM_002254 human genbank 54_36p -1 validated silent c.1335 p.P445 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_RIBOSOMAL_L2,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF3C 3797 broad.mit.edu 36 2 26057982 26057982 + Silent SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 26057982 26057982 C T SNP KIF3C NM_002254 human genbank 54_36p -1 validated silent c.309 p.K103 1 "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_RIBOSOMAL_L2,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RAB10 10890 broad.mit.edu 36 2 26203562 26203562 + Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26203562 26203562 G A SNP RAB10 NM_016131 human genbank 54_36p 1 provisional missense c.373 p.D125N 1 "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors HADHA 3030 broad.mit.edu 36 2 26277614 26277614 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26277614 26277614 C G SNP HADHA NM_000182 human genbank 54_36p -1 reviewed missense c.1300 p.D434H 0.99 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3HCDH_N" "superfamily_ClpP/crotonase,HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,HMMPfam_3HCDH" - no_errors GPR113 165082 broad.mit.edu 36 2 26387192 26387192 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26387192 26387192 C G SNP GPR113 NM_153835 human genbank 54_36p -1 validated missense c.2311 p.G771R 0.18 HMMPfam_7tm_2 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR113 165082 broad.mit.edu 36 2 26387670 26387670 + Silent SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26387670 26387670 G A SNP GPR113 NM_153835 human genbank 54_36p -1 validated silent c.1833 p.A611 0 NULL "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors C2orf39 92749 broad.mit.edu 36 2 26500757 26500757 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26500757 26500757 C T SNP C2orf39 NM_145038 human genbank 54_36p 1 validated silent c.471 p.L157 0.48 NULL NULL - no_errors OTOF 9381 broad.mit.edu 36 2 26540401 26540401 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 26540401 26540401 G A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.5038 p.R1680C 1 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors OTOF 9381 broad.mit.edu 36 2 26558931 26558931 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 26558931 26558931 G A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.1426 p.P476S 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerB,HMMPfam_FerI" - no_errors CIB4 130106 broad.mit.edu 36 2 26671623 26671623 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 26671623 26671623 C T SNP CIB4 NM_001029881 human genbank 54_36p -1 provisional missense c.253 p.V85M 1 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors C2orf18 54978 broad.mit.edu 36 2 26854537 26854537 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 26854537 26854537 G T SNP C2orf18 NM_017877 human genbank 54_36p 1 validated missense c.770 p.G257V 1 NULL "superfamily_SSF103481,HMMPfam_DUF6" - no_errors DPYSL5 56896 broad.mit.edu 36 2 27003805 27003805 + Splice_Site SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27003805 27003805 G A SNP DPYSL5 NM_020134 human genbank 54_36p 1 validated splice_site c.600+1 e3+1 1 - - - no_errors DPYSL5 56896 broad.mit.edu 36 2 27018981 27018981 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27018981 27018981 C G SNP DPYSL5 NM_020134 human genbank 54_36p 1 validated missense c.1299 p.H433Q 1 superfamily_Metalo_hydrolase "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" - no_errors MAPRE3 22924 broad.mit.edu 36 2 27102380 27102380 + Silent SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27102380 27102380 C T SNP MAPRE3 NM_012326 human genbank 54_36p 1 reviewed silent c.753 p.I251 0.99 HMMPfam_EB1 "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMPfam_EB1" - no_errors AGBL5 60509 broad.mit.edu 36 2 27135678 27135678 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27135678 27135678 C T SNP AGBL5 NM_021831 human genbank 54_36p 1 validated missense c.1991 p.S664F 1 NULL "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" - no_errors AGBL5 60509 broad.mit.edu 36 2 27145060 27145060 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27145060 27145060 G T SNP AGBL5 NM_021831 human genbank 54_36p 1 validated missense c.2299 p.G767W 1 NULL "HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases" - no_errors EMILIN1 11117 broad.mit.edu 36 2 27158743 27158743 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27158743 27158743 G A SNP EMILIN1 NM_007046 human genbank 54_36p 1 validated missense c.800 p.G267D 0.02 NULL "HMMPfam_EMI,HMMPfam_Collagen,superfamily_TNF_like,HMMPfam_C1q" - no_errors EMILIN1 11117 broad.mit.edu 36 2 27160227 27160227 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27160227 27160227 C A SNP EMILIN1 NM_007046 human genbank 54_36p 1 validated missense c.2284 p.L762I 0.3 NULL "HMMPfam_C1q,HMMPfam_Collagen,superfamily_TNF_like,HMMPfam_EMI" - no_errors CGREF1 10669 broad.mit.edu 36 2 27178469 27178469 + Silent SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27178469 27178469 C T SNP CGREF1 NM_006569 human genbank 54_36p -1 validated silent c.342 p.P114 0.88 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1" - no_errors C2orf53 339779 broad.mit.edu 36 2 27213657 27213657 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27213657 27213657 G C SNP C2orf53 NM_178553 human genbank 54_36p -1 validated missense c.1045 p.P349A 0.03 NULL NULL - no_errors SLC5A6 8884 broad.mit.edu 36 2 27277434 27277434 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27277434 27277434 G A SNP SLC5A6 NM_021095 human genbank 54_36p -1 provisional missense c.1700 p.P567L 0.61 NULL "PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors SLC5A6 8884 broad.mit.edu 36 2 27279631 27279631 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27279631 27279631 C G SNP SLC5A6 NM_021095 human genbank 54_36p -1 provisional missense c.1181 p.R394P 0.88 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2" - no_errors TRIM54 57159 broad.mit.edu 36 2 27374970 27374970 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27374970 27374970 C G SNP TRIM54 NM_032546 human genbank 54_36p 1 reviewed missense c.200 p.S67C 1 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX" - no_errors GTF3C2 2976 broad.mit.edu 36 2 27405843 27405843 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27405843 27405843 C T SNP GTF3C2 NM_001035521 human genbank 54_36p -1 validated missense c.1784 p.R595Q 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors ZNF513 130557 broad.mit.edu 36 2 27454395 27454395 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27454395 27454395 T A SNP ZNF513 NM_144631 human genbank 54_36p -1 validated missense c.1147 p.S383C 1 superfamily_C2H2 and C2HC zinc fingers "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF513 130557 broad.mit.edu 36 2 27454507 27454507 + Silent SNP T T C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 27454507 27454507 T C SNP ZNF513 NM_144631 human genbank 54_36p -1 validated silent c.1035 p.G345 0.99 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors C2orf16 84226 broad.mit.edu 36 2 27656561 27656561 + Silent SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 27656561 27656561 A G SNP C2orf16 NM_032266 human genbank 54_36p 1 validated silent c.3618 p.Q1206 0 NULL NULL - no_errors C2orf16 84226 broad.mit.edu 36 2 27658063 27658086 + In_Frame_Del DEL AGAGAAGACATCACAGTCCCTCTA - AGAGAAGACATCACAGTCCCTCTA novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W AGAGAAGACATCACAGTCCCTCTA AGAGAAGACATCACAGTCCCTCTA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 27658063 27658086 AGAGAAGACATCACAGTCCCTCTA - DEL C2orf16 NM_032266 human genbank 54_36p 1 validated in_frame_del c.5120_5143 p.RHHSPSKR1709in_frame_del 0.000:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.000 NULL NULL "(deletion:cds_exon[27652944,27658898])" no_errors PLB1 151056 broad.mit.edu 36 2 28625255 28625255 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 28625255 28625255 G A SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.961 p.E321K 0.05 NULL "superfamily_SGNH hydrolase,PatternScan_LIPASE_GDSL_SER,HMMPfam_Lipase_GDSL" - no_errors PLB1 151056 broad.mit.edu 36 2 28654515 28654515 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 28654515 28654515 A G SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.1471 p.M491V 1 "HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase" "HMMPfam_Lipase_GDSL,PatternScan_LIPASE_GDSL_SER,superfamily_SGNH hydrolase" - no_errors PLB1 151056 broad.mit.edu 36 2 28668118 28668118 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 28668118 28668118 G C SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.2175 p.L725F 0 NULL "HMMPfam_Lipase_GDSL,PatternScan_LIPASE_GDSL_SER,superfamily_SGNH hydrolase" - no_errors PLB1 151056 broad.mit.edu 36 2 28678331 28678331 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 28678331 28678331 G T SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.2669 p.R890I 0.03 "HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase" "HMMPfam_Lipase_GDSL,PatternScan_LIPASE_GDSL_SER,superfamily_SGNH hydrolase" - no_errors SPDYA 245711 broad.mit.edu 36 2 28892510 28892510 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 28892510 28892510 T G SNP SPDYA NM_182756 human genbank 54_36p 1 validated missense c.126 p.N42K 1 NULL NULL - no_errors FAM179A 165186 broad.mit.edu 36 2 29074585 29074585 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 29074585 29074585 C T SNP FAM179A NM_199280 human genbank 54_36p 1 validated missense c.101 p.P34L 0.02 NULL superfamily_ARM repeat - no_errors FAM179A 165186 broad.mit.edu 36 2 29093546 29093546 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 29093546 29093546 C A SNP FAM179A NM_199280 human genbank 54_36p 1 validated missense c.1067 p.S356Y 1 NULL superfamily_ARM repeat - no_errors C2orf71 388939 broad.mit.edu 36 2 29149792 29149792 + Silent SNP C C A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 29149792 29149792 C A SNP C2orf71 NM_001029883 human genbank 54_36p -1 predicted silent c.840 p.V280 0 NULL NULL - no_errors ALK 238 broad.mit.edu 36 2 29299735 29299735 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 29299735 29299735 C T SNP ALK NM_004304 human genbank 54_36p -1 reviewed silent c.3336 p.P1112 0.04 superfamily_Protein kinase-like (PK-like) "superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors ALK 238 broad.mit.edu 36 2 29996838 29996838 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 29996838 29996838 G T SNP ALK NM_004304 human genbank 54_36p -1 reviewed missense c.192 p.F64L 1 NULL "HMMPfam_MAM,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00192,superfamily_LDL receptor-like module,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" - no_errors LCLAT1 253558 broad.mit.edu 36 2 30536005 30536005 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 30536005 30536005 T C SNP LCLAT1 NM_182551 human genbank 54_36p 1 validated missense c.23 p.I8T 0.01 NULL "superfamily_Glycerol-3-phosphate (1)-acyltransferase,HMMPfam_Acyltransferase,HMMSmart_SM00563" - no_errors CAPN13 92291 broad.mit.edu 36 2 30846817 30846817 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 30846817 30846817 G C SNP CAPN13 NM_144575 human genbank 54_36p -1 validated missense c.390 p.F130L 1 "superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2" "superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand" - no_errors GALNT14 79623 broad.mit.edu 36 2 31042594 31042594 + Silent SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 31042594 31042594 C T SNP GALNT14 NM_024572 human genbank 54_36p -1 validated silent c.378 p.T126 0.99 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors EHD3 30845 broad.mit.edu 36 2 31337004 31337004 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 31337004 31337004 C A SNP EHD3 NM_014600 human genbank 54_36p 1 provisional missense c.627 p.N209K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1" - no_errors SRD5A2 6716 broad.mit.edu 36 2 31612317 31612317 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 31612317 31612317 T C SNP SRD5A2 ENST00000233139 human ensembl 54_36p -1 known missense c.302 p.N101S 1 NULL HMMPfam_Steroid_dh - no_errors MEMO1 7795 broad.mit.edu 36 2 31996505 31996505 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 31996505 31996505 A T SNP MEMO1 NM_015955 human genbank 54_36p -1 validated missense c.431 p.M144K 1 HMMPfam_Memo HMMPfam_Memo - no_errors NLRC4 58484 broad.mit.edu 36 2 32331086 32331086 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 32331086 32331086 G T SNP NLRC4 NM_021209 human genbank 54_36p -1 validated missense c.168 p.H56Q 0.07 "HMMPfam_CARD,superfamily_DEATH domain" "HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like" - no_errors BIRC6 57448 broad.mit.edu 36 2 32470676 32470676 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 32470676 32470676 G C SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed missense c.905 p.R302T 1 "superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,HMMPfam_BIR" "superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,HMMPfam_BIR,superfamily_Galactose-binding domain-like,superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" - no_errors BIRC6 57448 broad.mit.edu 36 2 32493924 32493924 + Nonsense_Mutation SNP C C G rs3769599 "by-cluster,by-frequency,by-hapmap" TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 32493924 32493924 C G SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed nonsense c.2061 p.Y687* 1 NULL "HMMPfam_UQ_con,HMMSmart_SM00212,HMMPfam_BIR,HMMSmart_SM00238,superfamily_Galactose-binding domain-like,superfamily_UBC-like,superfamily_Inhibitor of apoptosis (IAP) repeat" - no_errors BIRC6 57448 broad.mit.edu 36 2 32541905 32541905 + Silent SNP A A C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 32541905 32541905 A C SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed silent c.4893 p.L1631 0.92 NULL "HMMPfam_UQ_con,HMMSmart_SM00212,HMMPfam_BIR,HMMSmart_SM00238,superfamily_Galactose-binding domain-like,superfamily_UBC-like,superfamily_Inhibitor of apoptosis (IAP) repeat" - no_errors BIRC6 57448 broad.mit.edu 36 2 32543691 32543691 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 32543691 32543691 C G SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed missense c.5311 p.Q1771E 1 NULL "HMMPfam_UQ_con,HMMSmart_SM00212,HMMPfam_BIR,HMMSmart_SM00238,superfamily_Galactose-binding domain-like,superfamily_UBC-like,superfamily_Inhibitor of apoptosis (IAP) repeat" - no_errors BIRC6 57448 broad.mit.edu 36 2 32624379 32624379 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 32624379 32624379 C T SNP BIRC6 NM_016252 human genbank 54_36p 1 reviewed missense c.12758 p.A4253V 1 NULL "HMMPfam_UQ_con,HMMSmart_SM00212,HMMPfam_BIR,HMMSmart_SM00238,superfamily_Galactose-binding domain-like,superfamily_UBC-like,superfamily_Inhibitor of apoptosis (IAP) repeat" - no_errors LTBP1 4052 broad.mit.edu 36 2 33353618 33353618 + Silent SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 33353618 33353618 C T SNP LTBP1 NM_206943 human genbank 54_36p 1 reviewed silent c.2829 p.C943 1 "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors LTBP1 4052 broad.mit.edu 36 2 33444027 33444027 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 33444027 33444027 G A SNP LTBP1 NM_206943 human genbank 54_36p 1 reviewed missense c.4667 p.G1556E 1 "HMMPfam_TB,superfamily_TB module/8-cys domain" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors RASGRP3 25780 broad.mit.edu 36 2 33605748 33605748 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 33605748 33605748 A G SNP RASGRP3 NM_170672 human genbank 54_36p 1 validated missense c.848 p.N283S 1 "superfamily_Ras GEF,HMMPfam_RasGEF,HMMSmart_SM00147" "HMMSmart_SM00229,superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" - no_errors RASGRP3 25780 broad.mit.edu 36 2 33622158 33622158 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 33622158 33622158 T C SNP RASGRP3 NM_170672 human genbank 54_36p 1 validated missense c.1354 p.F452L 1 "HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand" "HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,HMMSmart_SM00054,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Ras GEF,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Cysteine-rich domain" - no_errors HEATR5B 54497 broad.mit.edu 36 2 37081236 37081236 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 37081236 37081236 G T SNP HEATR5B NM_019024 human genbank 54_36p -1 validated missense c.5542 p.P1848T 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors HEATR5B 54497 broad.mit.edu 36 2 37084228 37084228 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 37084228 37084228 C T SNP HEATR5B NM_019024 human genbank 54_36p -1 validated missense c.5011 p.A1671T 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors HEATR5B 54497 broad.mit.edu 36 2 37108713 37108713 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 37108713 37108713 G T SNP HEATR5B NM_019024 human genbank 54_36p -1 validated nonsense c.3710 p.S1237* 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors EIF2AK2 5610 broad.mit.edu 36 2 37195473 37195473 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 37195473 37195473 C T SNP EIF2AK2 NM_002759 human genbank 54_36p -1 validated missense c.1282 p.V428I 0.37 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SULT6B1 391365 broad.mit.edu 36 2 37269169 37269169 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 37269169 37269169 C T SNP SULT6B1 NM_001032377 human genbank 54_36p -1 provisional missense c.5 p.C2Y 0.94 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors C2orf56 55471 broad.mit.edu 36 2 37326751 37326751 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 37326751 37326751 T C SNP C2orf56 NM_144736 human genbank 54_36p 1 validated missense c.845 p.I282T 0.41 HMMPfam_DUF185 HMMPfam_DUF185 - no_errors PRKD3 23683 broad.mit.edu 36 2 37363257 37363257 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 37363257 37363257 A G SNP PRKD3 NM_005813 human genbank 54_36p -1 reviewed missense c.920 p.F307S 1 "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" ############################################################################################################################################################################################################################################################### - no_errors FAM82A1 151393 broad.mit.edu 36 2 38032579 38032579 + Silent SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 38032579 38032579 C A SNP FAM82A1 NM_144713 human genbank 54_36p 1 provisional silent c.717 p.G239 0.03 NULL "superfamily_SSF48452,PatternScan_ER_TARGET" - no_errors SOS1 6654 broad.mit.edu 36 2 39066923 39066923 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 39066923 39066923 G C SNP SOS1 NM_005633 human genbank 54_36p -1 reviewed missense c.3548 p.P1183R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MAP4K3 8491 broad.mit.edu 36 2 39406867 39406867 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 39406867 39406867 C T SNP MAP4K3 NM_003618 human genbank 54_36p -1 reviewed missense c.586 p.D196N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00036,HMMPfam_CNH" - no_errors MAP4K3 8491 broad.mit.edu 36 2 39517539 39517539 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 39517539 39517539 T C SNP MAP4K3 NM_003618 human genbank 54_36p -1 reviewed missense c.94 p.K32E 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors MTA3 57504 broad.mit.edu 36 2 42776439 42776439 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 42776439 42776439 G C SNP MTA3 NM_020744 human genbank 54_36p 1 provisional missense c.922 p.E308Q 1 "HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain_like" "HMMPfam_BAH,HMMSmart_BAH,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain_like,HMMSmart_ZnF_GATA,HMMPfam_GATA" - no_errors ABCG5 64240 broad.mit.edu 36 2 43904698 43904698 + Silent SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 43904698 43904698 C A SNP ABCG5 NM_022436 human genbank 54_36p -1 reviewed silent c.1182 p.L394 0.99 HMMPfam_ABC2_membrane "PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,HMMPfam_ABC2_membrane" - no_errors LRPPRC 10128 broad.mit.edu 36 2 44024521 44024521 + Silent SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 44024521 44024521 C T SNP LRPPRC NM_133259 human genbank 54_36p -1 reviewed silent c.2313 p.L771 1 "superfamily_SSF48452,HMMPfam_PPR" "superfamily_SSF48452,HMMPfam_PPR" - no_errors PRKCE 5581 broad.mit.edu 36 2 46082066 46082066 + Silent SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 46082066 46082066 C T SNP PRKCE NM_005400 human genbank 54_36p 1 reviewed silent c.843 p.H281 1 "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" ############################################################################################################################################################################################################################################################### - no_errors EPAS1 2034 broad.mit.edu 36 2 46436791 46436792 + Splice_Site DNP CA CA AT novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 46436791 46436792 CA AT DNP EPAS1 NM_001430 human genbank 54_36p 1 validated splice_site c.218-3_218-2 e3-2 0.952:0.996 - - - no_errors EPAS1 2034 broad.mit.edu 36 2 46459304 46459304 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 46459304 46459304 A G SNP EPAS1 NM_001430 human genbank 54_36p 1 validated missense c.1448 p.N483S 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC,HMMPfam_HIF-1a_CTAD" - no_errors EPAS1 2034 broad.mit.edu 36 2 46465164 46465165 + Missense_Mutation DNP GG GG CC novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 46465164 46465165 GG CC DNP EPAS1 NM_001430 human genbank 54_36p 1 validated missense c.2474_2475 p.R825P 1.000:1.000 NULL "HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,superfamily_HLH_basic,HMMPfam_PAS_3,HMMPfam_HIF-1a_CTAD,superfamily_SSF55785" - no_errors ATP6V1E2 90423 broad.mit.edu 36 2 46592951 46592951 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 46592951 46592951 C T SNP ATP6V1E2 NM_080653 human genbank 54_36p -1 validated missense c.404 p.R135H 1 HMMPfam_vATP-synt_E HMMPfam_vATP-synt_E - no_errors SOCS5 9655 broad.mit.edu 36 2 46839758 46839758 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 46839758 46839758 C T SNP SOCS5 NM_014011 human genbank 54_36p 1 reviewed silent c.585 p.S195 1 NULL "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00253,HMMPfam_SOCS_box" - no_errors MSH2 4436 broad.mit.edu 36 2 47558954 47558954 + Frame_Shift_Del DEL G - G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 47558954 47558954 G - DEL MSH2 NM_000251 human genbank 54_36p 1 reviewed frame_shift_del c.2250 p.G751fs 1 "HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" "HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" "(deletion:cds_exon[47558915,47559162])" no_errors KCNK12 56660 broad.mit.edu 36 2 47602342 47602342 + Silent SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 47602342 47602342 G A SNP KCNK12 NM_022055 human genbank 54_36p -1 reviewed silent c.501 p.R167 1 "superfamily_SSF81324,HMMPfam_Ion_trans_2" "superfamily_SSF81324,HMMPfam_Ion_trans_2" - no_errors STON1-GTF2A1L 286749 broad.mit.edu 36 2 48727389 48727389 + Missense_Mutation SNP G G A rs61754876 Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 48727389 48727389 G A SNP STON1-GTF2A1L NM_172311 human genbank 54_36p 1 reviewed missense c.2794 p.V932M 0 HMMPfam_TFIIA "superfamily_AP50,HMMPfam_Adap_comp_sub,superfamily_TFIIA_helical,HMMPfam_TFIIA,superfamily_TFIIA_betabarrel" - no_errors LHCGR 3973 broad.mit.edu 36 2 48768695 48768695 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 48768695 48768695 A G SNP LHCGR NM_000233 human genbank 54_36p -1 reviewed missense c.1745 p.M582T 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FSHR 2492 broad.mit.edu 36 2 49043797 49043797 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 49043797 49043797 A T SNP FSHR NM_000145 human genbank 54_36p -1 reviewed missense c.1667 p.V556E 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FSHR 2492 broad.mit.edu 36 2 49044418 49044418 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 49044418 49044418 T A SNP FSHR NM_000145 human genbank 54_36p -1 reviewed missense c.1046 p.K349M 0.93 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like" - no_errors NRXN1 9378 broad.mit.edu 36 2 50553080 50553080 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 50553080 50553080 G A SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.3104 p.T1035I 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_SM00294" - no_errors NRXN1 9378 broad.mit.edu 36 2 50611918 50611918 + Silent SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 50611918 50611918 G T SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed silent c.2298 p.T766 0.96 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin" - no_errors NRXN1 9378 broad.mit.edu 36 2 50619171 50619171 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 50619171 50619171 C T SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.1867 p.A623T 1 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin" - no_errors ERLEC1 27248 broad.mit.edu 36 2 53888966 53888966 + Silent SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 53888966 53888966 G A SNP C2orf30 NM_015701 human genbank 54_36p 1 validated silent c.906 p.E302 1 NULL "HMMPfam_PRKCSH,superfamily_Mannose 6-phosphate receptor domain" - no_errors RTN4 57142 broad.mit.edu 36 2 55106196 55106196 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 55106196 55106196 G C SNP RTN4 NM_020532 human genbank 54_36p -1 reviewed missense c.2543 p.S848C 1 NULL HMMPfam_Reticulon - no_errors C2orf63 130162 broad.mit.edu 36 2 55293345 55293345 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 55293345 55293345 G C SNP C2orf63 NM_152385 human genbank 54_36p -1 validated missense c.467 p.T156S 0 NULL superfamily_ARM repeat - no_errors RPS27A 6233 broad.mit.edu 36 2 55315594 55315594 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 55315594 55315594 T C SNP RPS27A NM_002954 human genbank 54_36p 1 reviewed missense c.313 p.Y105H 1 HMMPfam_Ribosomal_S27 "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1,HMMPfam_Ribosomal_S27" - no_errors MTIF2 4528 broad.mit.edu 36 2 55327035 55327035 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 55327035 55327035 C A SNP MTIF2 NM_001005369 human genbank 54_36p -1 reviewed missense c.1048 p.D350Y 1 superfamily_SSF52540 "superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_SSF52156,PatternScan_IF2" - no_errors CCDC104 112942 broad.mit.edu 36 2 55609605 55609605 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 55609605 55609605 G T SNP CCDC104 NM_080667 human genbank 54_36p 1 validated missense c.370 p.A124S 1 NULL NULL - no_errors CCDC85A 114800 broad.mit.edu 36 2 56453098 56453098 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 56453098 56453098 G A SNP CCDC85A NM_001080433 human genbank 54_36p 1 provisional missense c.1433 p.R478Q 1 NULL HMMPfam_DUF2216 - no_errors VRK2 7444 broad.mit.edu 36 2 58129502 58129502 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 58129502 58129502 T A SNP VRK2 NM_006296 human genbank 54_36p 1 reviewed missense c.32 p.L11H 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" - no_errors FANCL 55120 broad.mit.edu 36 2 58240432 58240432 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 58240432 58240432 G A SNP FANCL NM_018062 human genbank 54_36p -1 reviewed missense c.1100 p.T367I 1 HMMPfam_WD-3 "PatternScan_ZF_RING_1,HMMPfam_WD-3,superfamily_SSF57850,HMMSmart_RING" - no_errors FANCL 55120 broad.mit.edu 36 2 58302626 58302626 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 58302626 58302626 A G SNP FANCL NM_018062 human genbank 54_36p -1 reviewed missense c.329 p.F110S 1 HMMPfam_WD-3 "HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_WD-3,superfamily_SSF57850" - no_errors PAPOLG 64895 broad.mit.edu 36 2 60852164 60852164 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 60852164 60852164 C G SNP PAPOLG NM_022894 human genbank 54_36p 1 reviewed missense c.499 p.L167V 1 "HMMPfam_PAP_central,superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2" "HMMPfam_PAP_central,superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain,HMMPfam_PAP_RNA-bind" - no_errors PUS10 150962 broad.mit.edu 36 2 61033722 61033722 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61033722 61033722 C A SNP PUS10 NM_144709 human genbank 54_36p -1 validated nonsense c.1222 p.E408* 1 NULL NULL - no_errors PUS10 150962 broad.mit.edu 36 2 61089571 61089571 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61089571 61089571 T G SNP PUS10 NM_144709 human genbank 54_36p -1 validated missense c.210 p.K70N 1 NULL NULL - no_errors USP34 9736 broad.mit.edu 36 2 61289609 61289609 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61289609 61289609 T C SNP USP34 NM_014709 human genbank 54_36p -1 validated missense c.8848 p.R2950G 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP34 9736 broad.mit.edu 36 2 61346784 61346784 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61346784 61346784 T A SNP USP34 NM_014709 human genbank 54_36p -1 validated missense c.5456 p.N1819I 1 NULL "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors USP34 9736 broad.mit.edu 36 2 61392182 61392182 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 61392182 61392182 G A SNP USP34 NM_014709 human genbank 54_36p -1 validated missense c.3814 p.P1272S 1 NULL "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors USP34 9736 broad.mit.edu 36 2 61460976 61460976 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61460976 61460976 C G SNP USP34 NM_014709 human genbank 54_36p -1 validated missense c.846 p.Q282H 1 NULL "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors FAM161A 84140 broad.mit.edu 36 2 61920467 61920467 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 61920467 61920467 T A SNP FAM161A NM_032180 human genbank 54_36p -1 validated missense c.849 p.L283F 0.03 HMMPfam_UPF0564 HMMPfam_UPF0564 - no_errors FAM161A 84140 broad.mit.edu 36 2 61920764 61920764 + Silent SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 61920764 61920764 G C SNP FAM161A NM_032180 human genbank 54_36p -1 validated silent c.552 p.L184 0.99 HMMPfam_UPF0564 HMMPfam_UPF0564 - no_errors FAM161A 84140 broad.mit.edu 36 2 61920995 61920995 + Missense_Mutation SNP A A C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 61920995 61920995 A C SNP FAM161A NM_032180 human genbank 54_36p -1 validated missense c.321 p.D107E 0 NULL HMMPfam_UPF0564 - no_errors FAM161A 84140 broad.mit.edu 36 2 61934636 61934636 + Silent SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 61934636 61934636 G A SNP FAM161A ENST00000404929 human ensembl 54_36p -1 known silent c.45 p.L15 0.01 NULL HMMPfam_UPF0564 - no_errors CCT4 10575 broad.mit.edu 36 2 61952835 61952835 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61952835 61952835 C A SNP CCT4 NM_006430 human genbank 54_36p -1 validated missense c.1377 p.E459D 1 "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1" "superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029" - no_errors COMMD1 150684 broad.mit.edu 36 2 61986493 61986493 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 61986493 61986493 T A SNP COMMD1 NM_152516 human genbank 54_36p 1 validated missense c.176 p.L59H 1 HMMPfam_HCaRG HMMPfam_HCaRG - no_errors C2orf86 51057 broad.mit.edu 36 2 63485059 63485059 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 63485059 63485059 C A SNP C2orf86 NM_015910 human genbank 54_36p -1 validated missense c.1063 p.G355C 1 NULL NULL - no_errors VPS54 51542 broad.mit.edu 36 2 64052843 64052843 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 64052843 64052843 G T SNP VPS54 NM_016516 human genbank 54_36p -1 reviewed missense c.418 p.P140T 1 NULL HMMPfam_Vps54 - no_errors AFTPH 54812 broad.mit.edu 36 2 64672626 64672626 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 64672626 64672626 G A SNP AFTPH NM_203437 human genbank 54_36p 1 validated missense c.2764 p.A922T 1 NULL PatternScan_EF_HAND_1 - no_errors SPRED2 200734 broad.mit.edu 36 2 65425505 65425505 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 65425505 65425505 A T SNP SPRED2 NM_181784 human genbank 54_36p -1 validated missense c.56 p.V19E 1 "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like" "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_Sprouty" - no_errors ETAA1 54465 broad.mit.edu 36 2 67485207 67485207 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 67485207 67485207 G C SNP ETAA1 NM_019002 human genbank 54_36p 1 validated missense c.1889 p.S630T 0 NULL NULL - no_errors APLF 200558 broad.mit.edu 36 2 68618673 68618673 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 68618673 68618673 T G SNP APLF NM_173545 human genbank 54_36p 1 validated missense c.970 p.C324G 0 NULL "superfamily_SMAD_FHA,HMMPfam_zf-CCHH" - no_errors BMP10 27302 broad.mit.edu 36 2 68946356 68946356 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 68946356 68946356 G A SNP BMP10 NM_014482 human genbank 54_36p -1 reviewed missense c.1186 p.P396S 1 "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB" "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors ANTXR1 84168 broad.mit.edu 36 2 69151305 69151305 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 69151305 69151305 G C SNP ANTXR1 NM_032208 human genbank 54_36p 1 reviewed missense c.319 p.E107Q 1 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Anth_Ig,HMMPfam_Ant_C" - no_errors GMCL1 64395 broad.mit.edu 36 2 69930290 69930290 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 69930290 69930290 G T SNP GMCL1 NM_178439 human genbank 54_36p 1 provisional missense c.846 p.W282C 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors GMCL1 64395 broad.mit.edu 36 2 69935488 69935488 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 69935488 69935488 G A SNP GMCL1 NM_178439 human genbank 54_36p 1 provisional missense c.964 p.E322K 1 NULL "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" - no_errors ADD2 119 broad.mit.edu 36 2 70753936 70753936 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 70753936 70753936 C G SNP ADD2 NM_017488 human genbank 54_36p -1 reviewed missense c.1772 p.G591A 0 NULL "superfamily_Aldolase_II_N,HMMPfam_Aldolase_II" - no_errors ADD2 119 broad.mit.edu 36 2 70759469 70759469 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 70759469 70759469 G A SNP ADD2 NM_001617 human genbank 54_36p -1 reviewed nonsense c.1258 p.R420* 0.99 NULL "superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II" - no_errors ADD2 119 broad.mit.edu 36 2 70773175 70773175 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 70773175 70773175 C T SNP ADD2 NM_001617 human genbank 54_36p -1 reviewed silent c.573 p.L191 1 "HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase" "HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase" - no_errors CLEC4F 165530 broad.mit.edu 36 2 70896853 70896853 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 70896853 70896853 T C SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.1168 p.I390V 0.4 NULL "PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold" - no_errors CLEC4F 165530 broad.mit.edu 36 2 70897731 70897731 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 70897731 70897731 T C SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.290 p.E97G 0 NULL "superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1" - no_errors CD207 50489 broad.mit.edu 36 2 70916385 70916385 + Silent SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 70916385 70916385 C T SNP CD207 NM_015717 human genbank 54_36p -1 validated silent c.30 p.A10 0.28 NULL "HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors MPHOSPH10 10199 broad.mit.edu 36 2 71211344 71211344 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 71211344 71211344 G C SNP MPHOSPH10 NM_005791 human genbank 54_36p 1 reviewed missense c.41 p.C14S 0.89 NULL HMMPfam_Mpp10 - no_errors DYSF 8291 broad.mit.edu 36 2 71615936 71615936 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 71615936 71615936 C T SNP DYSF NM_003494 human genbank 54_36p 1 reviewed missense c.1384 p.R462C 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694" - no_errors DYSF 8291 broad.mit.edu 36 2 71739621 71739621 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 71739621 71739621 A G SNP DYSF NM_003494 human genbank 54_36p 1 reviewed missense c.4744 p.I1582V 0.25 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI" - no_errors CYP26B1 56603 broad.mit.edu 36 2 72213210 72213211 + Missense_Mutation DNP TC TC AA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 72213210 72213211 TC AA DNP CYP26B1 NM_019885 human genbank 54_36p -1 reviewed missense c.1193_1192 p.D398F 1.000:1.000 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP26B1 56603 broad.mit.edu 36 2 72224762 72224762 + Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 72224762 72224762 C A SNP CYP26B1 NM_019885 human genbank 54_36p -1 reviewed missense c.293 p.G98V 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors EXOC6B 23233 broad.mit.edu 36 2 72580564 72580564 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 72580564 72580564 T A SNP EXOC6B NM_015189 human genbank 54_36p -1 validated missense c.1213 p.I405F 1 NULL HMMPfam_Sec15 - no_errors SPR 6697 broad.mit.edu 36 2 72972028 72972028 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 72972028 72972028 G A SNP SPR NM_003124 human genbank 54_36p 1 reviewed missense c.640 p.V214M 0 superfamily_NAD(P)-bd "superfamily_NAD(P)-bd,HMMPfam_adh_short" - no_errors EGR4 1961 broad.mit.edu 36 2 73372938 73372938 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 73372938 73372938 C T SNP EGR4 NM_001965 human genbank 54_36p -1 validated missense c.616 p.A206T 0.11 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ALMS1 7840 broad.mit.edu 36 2 73466540 73466545 + In_Frame_Del DEL GGAGGA - GGAGGA novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 GGAGGA GGAGGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 73466540 73466545 GGAGGA - DEL ALMS1 NM_015120 human genbank 54_36p 1 reviewed in_frame_del c.36_41 p.EE16in_frame_del 0.986:0.995:0.998:1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[73466505,73466828])" no_errors ALMS1 7840 broad.mit.edu 36 2 73499950 73499950 + Silent SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 73499950 73499950 G T SNP ALMS1 NM_015120 human genbank 54_36p 1 reviewed silent c.642 p.L214 1 NULL NULL - no_errors ALMS1 7840 broad.mit.edu 36 2 73530813 73530813 + Silent SNP A A G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 73530813 73530813 A G SNP ALMS1 NM_015120 human genbank 54_36p 1 reviewed silent c.3648 p.K1216 0 NULL NULL - no_errors NAT8 9027 broad.mit.edu 36 2 73721902 73721902 + Missense_Mutation SNP A A T rs62000430 Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 73721902 73721902 A T SNP NAT8 NM_003960 human genbank 54_36p -1 reviewed missense c.362 p.M121K 1 "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" - no_errors NAT8B 51471 broad.mit.edu 36 2 73781447 73781447 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 73781447 73781447 G A SNP ENSG00000204872 ENST00000377712 human ensembl 54_36p -1 novel missense c.422 p.A141V 1 "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_Acetyltransf_1" "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_Acetyltransf_1" - no_errors C2orf78 388960 broad.mit.edu 36 2 73896358 73896358 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 73896358 73896358 G C SNP C2orf78 NM_001080474 human genbank 54_36p 1 predicted missense c.1500 p.R500S 0.45 NULL NULL - no_errors STAMBP 10617 broad.mit.edu 36 2 73930019 73930019 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 73930019 73930019 G A SNP STAMBP NM_006463 human genbank 54_36p 1 reviewed missense c.764 p.R255H 1 "HMMPfam_Mov34,superfamily_SSF102712" "HMMPfam_Mov34,superfamily_SSF102712,HMMSmart_JAB_MPN" - no_errors TET3 200424 broad.mit.edu 36 2 74128888 74128888 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 74128888 74128888 G A SNP TET3 NM_144993 human genbank 54_36p 1 provisional missense c.1931 p.G644E 0.34 NULL NULL - no_errors TET3 200424 broad.mit.edu 36 2 74182800 74182800 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74182800 74182800 C T SNP TET3 NM_144993 human genbank 54_36p 1 provisional missense c.4972 p.R1658C 1 NULL NULL - no_errors SLC4A5 57835 broad.mit.edu 36 2 74313134 74313134 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74313134 74313134 G A SNP SLC4A5 NM_021196 human genbank 54_36p -1 reviewed missense c.2744 p.P915L 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC4A5 57835 broad.mit.edu 36 2 74332886 74332886 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74332886 74332886 C A SNP SLC4A5 NM_021196 human genbank 54_36p -1 reviewed missense c.1406 p.G469V 0 NULL "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein" - no_errors DCTN1 1639 broad.mit.edu 36 2 74446964 74446964 + Nonsense_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74446964 74446964 G C SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed nonsense c.2675 p.S892* 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat" - no_errors WBP1 23559 broad.mit.edu 36 2 74541197 74541198 + Missense_Mutation DNP GT GT CC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 74541197 74541198 GT CC DNP WBP1 NM_012477 human genbank 54_36p 1 reviewed missense c.691_692 p.V231P 0.982:0.961 NULL NULL - no_errors PCGF1 84759 broad.mit.edu 36 2 74586392 74586392 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74586392 74586392 T C SNP PCGF1 NM_032673 human genbank 54_36p -1 validated missense c.544 p.K182E 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors TLX2 3196 broad.mit.edu 36 2 74596361 74596361 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 74596361 74596361 C G SNP TLX2 NM_016170 human genbank 54_36p 1 provisional missense c.494 p.S165C 1 "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HTRA2 27429 broad.mit.edu 36 2 74611552 74611552 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74611552 74611552 C T SNP HTRA2 NM_013247 human genbank 54_36p 1 reviewed missense c.718 p.L240F 1 "superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" - no_errors LOXL3 84695 broad.mit.edu 36 2 74617073 74617073 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 74617073 74617073 C G SNP LOXL3 NM_032603 human genbank 54_36p -1 reviewed missense c.946 p.G316R 1 "superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1" "superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE" - no_errors C2orf65 130951 broad.mit.edu 36 2 74640855 74640855 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74640855 74640855 G T SNP C2orf65 NM_138804 human genbank 54_36p -1 predicted missense c.1353 p.H451Q 1 NULL NULL - no_errors SEMA4F 10505 broad.mit.edu 36 2 74743412 74743412 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 74743412 74743412 G A SNP SEMA4F NM_004263 human genbank 54_36p 1 provisional missense c.502 p.G168R 1 "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat" - no_errors TACR1 6869 broad.mit.edu 36 2 75130159 75130159 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 75130159 75130159 A C SNP TACR1 NM_001058 human genbank 54_36p -1 reviewed missense c.1132 p.S378A 0.51 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LRRTM4 80059 broad.mit.edu 36 2 77599406 77599406 + Missense_Mutation SNP A A G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 77599406 77599406 A G SNP LRRTM4 NM_024993 human genbank 54_36p -1 provisional missense c.1097 p.V366A 0.11 NULL "HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1" - no_errors LRRTM4 80059 broad.mit.edu 36 2 77599824 77599824 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 77599824 77599824 G C SNP LRRTM4 NM_024993 human genbank 54_36p -1 provisional missense c.679 p.R227G 1 "HMMPfam_LRR_1,superfamily_SSF52058" "HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors LRRTM1 347730 broad.mit.edu 36 2 80382909 80382909 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 80382909 80382909 G T SNP LRRTM1 NM_178839 human genbank 54_36p -1 validated missense c.1547 p.P516H 1 NULL "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors LRRTM1 347730 broad.mit.edu 36 2 80383703 80383703 + Silent SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 80383703 80383703 C A SNP LRRTM1 NM_178839 human genbank 54_36p -1 validated silent c.753 p.S251 1 superfamily_SSF52058 "HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors KCMF1 56888 broad.mit.edu 36 2 85133839 85133839 + Silent SNP A A C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 85133839 85133839 A C SNP KCMF1 NM_020122 human genbank 54_36p 1 validated silent c.942 p.A314 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" - no_errors RETSAT 54884 broad.mit.edu 36 2 85431525 85431525 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 85431525 85431525 A T SNP RETSAT NM_017750 human genbank 54_36p -1 validated missense c.486 p.N162K 0.05 superfamily_FAD/NAD(P)-binding domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_2,PatternScan_RCC1_2" - no_errors ELMOD3 84173 broad.mit.edu 36 2 85452122 85452122 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 85452122 85452122 T A SNP ELMOD3 NM_032213 human genbank 54_36p 1 validated missense c.533 p.I178N 1 HMMPfam_ELMO_CED12 HMMPfam_ELMO_CED12 - no_errors MAT2A 4144 broad.mit.edu 36 2 85623357 85623358 + Silent DNP TC TC AT novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 85623357 85623358 TC AT DNP MAT2A NM_005911 human genbank 54_36p 1 validated silent c.927_928 p.GGLC308 0.999:1.000 "HMMPfam_S-AdoMet_synt_C,superfamily_S-adenosylmethionine synthetase" "HMMPfam_S-AdoMet_synt_N,superfamily_S-adenosylmethionine synthetase,HMMPfam_S-AdoMet_synt_M,PatternScan_ADOMET_SYNTHETASE_1,HMMPfam_S-AdoMet_synt_C,PatternScan_ADOMET_SYNTHETASE_2" - no_errors POLR1A 25885 broad.mit.edu 36 2 86108550 86108550 + Silent SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 86108550 86108550 G A SNP POLR1A NM_015425 human genbank 54_36p -1 validated silent c.5031 p.S1677 1 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase "superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb1_1,HMMSmart_SM00663,HMMPfam_RNA_pol_Rpb1_2,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_4,HMMPfam_RNA_pol_Rpb1_5" - no_errors POLR1A 25885 broad.mit.edu 36 2 86108586 86108586 + Silent SNP G G A novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 86108586 86108586 G A SNP POLR1A NM_015425 human genbank 54_36p -1 validated silent c.4995 p.N1665 1 "HMMPfam_RNA_pol_Rpb1_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase" "HMMPfam_RNA_pol_Rpb1_2,HMMSmart_SM00663,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_1,HMMPfam_RNA_pol_Rpb1_5,HMMPfam_RNA_pol_Rpb1_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase" - no_errors POLR1A 25885 broad.mit.edu 36 2 86111964 86111964 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 86111964 86111964 C T SNP POLR1A NM_015425 human genbank 54_36p -1 validated silent c.4578 p.Q1526 1 "HMMPfam_RNA_pol_Rpb1_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase" "HMMPfam_RNA_pol_Rpb1_2,HMMSmart_SM00663,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_1,HMMPfam_RNA_pol_Rpb1_5,HMMPfam_RNA_pol_Rpb1_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase" - no_errors PTCD3 55037 broad.mit.edu 36 2 86205641 86205641 + Silent SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 86205641 86205641 C T SNP PTCD3 NM_017952 human genbank 54_36p 1 validated silent c.729 p.N243 1 NULL HMMPfam_PPR - no_errors CD8A 925 broad.mit.edu 36 2 86871055 86871055 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 86871055 86871055 C T SNP CD8A NM_001768 human genbank 54_36p -1 reviewed missense c.310 p.D104N 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors EIF2AK3 9451 broad.mit.edu 36 2 88671522 88671522 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 88671522 88671522 T G SNP EIF2AK3 NM_004836 human genbank 54_36p -1 validated missense c.931 p.K311Q 1 superfamily_Quinoprotein alcohol dehydrogenase-like "superfamily_Quinoprotein alcohol dehydrogenase-like,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors EIF2AK3 9451 broad.mit.edu 36 2 88671555 88671555 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 88671555 88671555 C G SNP EIF2AK3 NM_004836 human genbank 54_36p -1 validated missense c.898 p.E300Q 1 superfamily_Quinoprotein alcohol dehydrogenase-like "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),superfamily_Quinoprotein alcohol dehydrogenase-like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors TEKT4 150483 broad.mit.edu 36 2 94903503 94903503 + Silent SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 94903503 94903503 C A SNP TEKT4 NM_144705 human genbank 54_36p 1 provisional silent c.636 p.I212 0.99 HMMPfam_Tektin HMMPfam_Tektin - no_errors MRPS5 64969 broad.mit.edu 36 2 95129978 95129978 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 95129978 95129978 C T SNP MRPS5 NM_031902 human genbank 54_36p -1 reviewed missense c.899 p.R300K 1 "superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_Ribosomal_S5_C" "superfamily_dsRNA-binding domain-like,HMMPfam_Ribosomal_S5,PatternScan_RIBOSOMAL_S5,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_Ribosomal_S5_C" - no_errors PROM2 150696 broad.mit.edu 36 2 95315987 95315987 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 95315987 95315987 G A SNP PROM2 NM_144707 human genbank 54_36p 1 provisional missense c.1981 p.E661K 0.91 HMMPfam_Prominin "HMMPfam_Prominin,PatternScan_PA2_HIS" - no_errors FAHD2A 51011 broad.mit.edu 36 2 95440028 95440028 + Silent SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 95440028 95440028 C T SNP FAHD2A NM_016044 human genbank 54_36p 1 validated silent c.489 p.A163 1 "superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase" "superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase" - no_errors ADRA2B 151 broad.mit.edu 36 2 96145134 96145134 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 96145134 96145134 C T SNP ADRA2B NM_000682 human genbank 54_36p -1 reviewed missense c.482 p.R161H 0.93 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SNRNP200 23020 broad.mit.edu 36 2 96306446 96306446 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 96306446 96306446 C T SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.6097 p.G2033R 0.98 "HMMSmart_SM00611,HMMPfam_Sec63" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMSmart_SM00611,HMMPfam_Sec63" - no_errors SNRNP200 23020 broad.mit.edu 36 2 96320908 96320908 + Silent SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 96320908 96320908 G T SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated silent c.2370 p.T790 1 "HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00611,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SNRNP200 23020 broad.mit.edu 36 2 96321311 96321311 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 96321311 96321311 G A SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.2215 p.R739W 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00611,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SNRNP200 23020 broad.mit.edu 36 2 96328807 96328807 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 96328807 96328807 G A SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.716 p.T239I 1 NULL "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00611,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ITPRIPL1 150771 broad.mit.edu 36 2 96356443 96356443 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 96356443 96356443 G T SNP ITPRIPL1 NM_178495 human genbank 54_36p 1 validated missense c.371 p.G124V 0.01 NULL NULL - no_errors FER1L5 90342 broad.mit.edu 36 2 96727007 96727007 + Silent SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 96727007 96727007 C T SNP FER1L5 NM_001077400 human genbank 54_36p 1 provisional silent c.336 p.Y112 0 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors FER1L5 90342 broad.mit.edu 36 2 96733061 96733061 + Silent SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 96733061 96733061 G A SNP FER1L5 NM_001077400 human genbank 54_36p 1 provisional silent c.2001 p.S667 0.37 NULL "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors CNNM3 26505 broad.mit.edu 36 2 96846657 96846658 + Missense_Mutation DNP AA AA CT novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W AA AA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 96846657 96846658 AA CT DNP CNNM3 NM_017623 human genbank 54_36p 1 validated missense c.916_917 p.K306L 0.997:0.996 HMMPfam_DUF21 "HMMPfam_DUF21,HMMPfam_CBS" - no_errors SEMA4C 54910 broad.mit.edu 36 2 96890669 96890669 + Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 96890669 96890669 G C SNP SEMA4C NM_017789 human genbank 54_36p -1 validated nonsense c.1923 p.Y641* 1 "superfamily_SSF48726,HMMSmart_IG" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG" - no_errors FAM178B 51252 broad.mit.edu 36 2 96907404 96907404 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 96907404 96907404 T C SNP FAM178B NM_016490 human genbank 54_36p -1 predicted missense c.277 p.T93A 0.99 NULL NULL - no_errors ANKRD36 375248 broad.mit.edu 36 2 97143353 97143354 + Nonsense_Mutation DNP CC CC GT novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 97143353 97143354 CC GT DNP ANKRD36 ENST00000289105 human ensembl 54_36p 1 known nonsense c.150_151 p.YLL50* 0.001:0.001 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors ANKRD36 375248 broad.mit.edu 36 2 97143353 97143354 + Nonsense_Mutation DNP CC CC GT novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 97143353 97143354 CC GT DNP ANKRD36 ENST00000289105 human ensembl 54_36p 1 known nonsense c.150_151 p.YLL50* 0.001:0.001 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ZAP70 7535 broad.mit.edu 36 2 97717433 97717433 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 97717433 97717433 A G SNP ZAP70 NM_001079 human genbank 54_36p 1 reviewed missense c.908 p.D303G 0.08 NULL "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors TMEM131 23505 broad.mit.edu 36 2 97795420 97795420 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 97795420 97795420 C A SNP TMEM131 NM_015348 human genbank 54_36p -1 validated missense c.1759 p.D587Y 1 NULL NULL - no_errors VWA3B 200403 broad.mit.edu 36 2 98286608 98286608 + Silent SNP T T A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 98286608 98286608 T A SNP VWA3B NM_144992 human genbank 54_36p 1 provisional silent c.3432 p.P1144 0.99 NULL "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA" - no_errors CNGA3 1261 broad.mit.edu 36 2 98379211 98379211 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 98379211 98379211 C T SNP CNGA3 NM_001298 human genbank 54_36p 1 reviewed silent c.1146 p.V382 0.21 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors CNGA3 1261 broad.mit.edu 36 2 98380026 98380026 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 98380026 98380026 C T SNP CNGA3 NM_001298 human genbank 54_36p 1 reviewed missense c.1961 p.T654I 0.02 NULL "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors INPP4A 3631 broad.mit.edu 36 2 98537169 98537169 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 98537169 98537169 C G SNP INPP4A NM_001566 human genbank 54_36p 1 reviewed missense c.1366 p.R456G 0.99 NULL "superfamily_C2_CaLB,HMMSmart_C2" - no_errors INPP4A 3631 broad.mit.edu 36 2 98547657 98547657 + Silent SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 98547657 98547657 C T SNP INPP4A NM_001566 human genbank 54_36p 1 reviewed silent c.2049 p.Y683 0.97 NULL "HMMSmart_C2,superfamily_C2_CaLB" - no_errors TSGA10 80705 broad.mit.edu 36 2 99054746 99054746 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 99054746 99054746 A G SNP TSGA10 NM_025244 human genbank 54_36p -1 validated missense c.962 p.V321A 1 NULL NULL - no_errors MITD1 129531 broad.mit.edu 36 2 99152488 99152488 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 99152488 99152488 A G SNP MITD1 NM_138798 human genbank 54_36p -1 provisional missense c.611 p.M204T 1 NULL "HMMSmart_MIT,HMMPfam_MIT" - no_errors LYG2 254773 broad.mit.edu 36 2 99228301 99228301 + Silent SNP A A C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 99228301 99228301 A C SNP LYG2 NM_175735 human genbank 54_36p -1 reviewed silent c.237 p.P79 0.03 superfamily_SSF53955 "superfamily_SSF53955,HMMPfam_SLT" - no_errors EIF5B 9669 broad.mit.edu 36 2 99373550 99373550 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 99373550 99373550 C A SNP EIF5B NM_015904 human genbank 54_36p 1 reviewed missense c.2698 p.Q900K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU_D2" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,HMMPfam_GTP_EFTU_D2,superfamily_Initiation factor IF2/eIF5b domain 3,superfamily_Translation proteins" - no_errors NPAS2 4862 broad.mit.edu 36 2 100931172 100931172 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 100931172 100931172 A G SNP NPAS2 NM_002518 human genbank 54_36p 1 reviewed missense c.407 p.Q136R 1 "HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785" "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC" - no_errors NPAS2 4862 broad.mit.edu 36 2 100947013 100947013 + Silent SNP A A G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 100947013 100947013 A G SNP NPAS2 NM_002518 human genbank 54_36p 1 reviewed silent c.660 p.L220 0.53 NULL "HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,superfamily_HLH_basic,HMMPfam_PAS_3,HMMPfam_PAS,superfamily_SSF55785" - no_errors C2orf29 55571 broad.mit.edu 36 2 101236156 101236156 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 101236156 101236156 G C SNP C2orf29 NM_017546 human genbank 54_36p 1 validated missense c.298 p.D100H 1 NULL HMMPfam_DUF2363 - no_errors C2orf29 55571 broad.mit.edu 36 2 101240751 101240751 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 101240751 101240751 G C SNP C2orf29 NM_017546 human genbank 54_36p 1 validated missense c.581 p.R194P 0.99 NULL HMMPfam_DUF2363 - no_errors IL1RL2 8808 broad.mit.edu 36 2 102218109 102218109 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 102218109 102218109 A T SNP IL1RL2 NM_003854 human genbank 54_36p 1 reviewed missense c.1618 p.R540W 0 NULL "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors IL1RL1 9173 broad.mit.edu 36 2 102325147 102325147 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 102325147 102325147 G A SNP IL1RL1 NM_016232 human genbank 54_36p 1 reviewed missense c.643 p.G215R 0 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors IL18R1 8809 broad.mit.edu 36 2 102350806 102350806 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 102350806 102350806 G A SNP IL18R1 NM_003855 human genbank 54_36p 1 reviewed missense c.148 p.E50K 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors IL18R1 8809 broad.mit.edu 36 2 102379668 102379668 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 102379668 102379668 C G SNP IL18R1 NM_003855 human genbank 54_36p 1 reviewed missense c.1516 p.L506V 0.23 "HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR" "HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR,HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726" - no_errors IL18RAP 8807 broad.mit.edu 36 2 102420236 102420236 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 102420236 102420236 G T SNP IL18RAP NM_003853 human genbank 54_36p 1 reviewed missense c.712 p.V238F 1 "HMMSmart_SM00409,superfamily_Immunoglobulin" "superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors POU3F3 5455 broad.mit.edu 36 2 104839468 104839468 + Silent SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 104839468 104839468 G A SNP POU3F3 NM_006236 human genbank 54_36p 1 provisional silent c.1068 p.S356 1 "HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_2" "HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors MRPS9 64965 broad.mit.edu 36 2 105021032 105021032 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 105021032 105021032 T G SNP MRPS9 NM_182640 human genbank 54_36p 1 reviewed missense c.50 p.L17R 0 NULL "superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_Ribosomal_S9,PatternScan_RIBOSOMAL_S9" - no_errors UXS1 80146 broad.mit.edu 36 2 106128237 106128237 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 106128237 106128237 C G SNP UXS1 NM_025076 human genbank 54_36p -1 validated missense c.298 p.V100L 1 "HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains" "HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors UXS1 80146 broad.mit.edu 36 2 106128237 106128237 + Missense_Mutation SNP C C G novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 106128237 106128237 C G SNP UXS1 NM_025076 human genbank 54_36p -1 validated missense c.298 p.V100L 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Epimerase" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Epimerase" - no_errors ST6GAL2 84620 broad.mit.edu 36 2 106789823 106789823 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 106789823 106789823 T C SNP ST6GAL2 NM_032528 human genbank 54_36p -1 validated missense c.1333 p.M445V 1 HMMPfam_Glyco_transf_29 "HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase" - no_errors SLC5A7 60482 broad.mit.edu 36 2 107993138 107993138 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 107993138 107993138 G A SNP SLC5A7 NM_021815 human genbank 54_36p 1 provisional missense c.1132 p.V378I 0.92 HMMPfam_SSF "PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF" - no_errors SULT1C2 6819 broad.mit.edu 36 2 108276684 108276684 + Silent SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 108276684 108276684 C A SNP SULT1C2 NM_176825 human genbank 54_36p 1 reviewed silent c.129 p.L43 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors GCC2 9648 broad.mit.edu 36 2 108454151 108454151 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 108454151 108454151 T G SNP GCC2 NM_181453 human genbank 54_36p 1 reviewed missense c.1934 p.V645G 0.32 NULL "HMMPfam_GRIP,HMMSmart_Grip" - no_errors GCC2 9648 broad.mit.edu 36 2 108482477 108482477 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 108482477 108482477 C G SNP GCC2 NM_181453 human genbank 54_36p 1 reviewed missense c.4819 p.Q1607E 1 NULL "HMMPfam_GRIP,HMMSmart_Grip" - no_errors SH3RF3 344558 broad.mit.edu 36 2 109330756 109330756 + Silent SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 109330756 109330756 C T SNP SH3RF3 NM_001099289 human genbank 54_36p 1 provisional silent c.768 p.H256 0.9 superfamily_SH3-domain "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_stop_codon ANKRD57 65124 broad.mit.edu 36 2 109730229 109730229 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 109730229 109730229 G A SNP ANKRD57 NM_023016 human genbank 54_36p 1 validated missense c.874 p.G292S 0.94 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD57 65124 broad.mit.edu 36 2 109730442 109730442 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 109730442 109730442 G A SNP ANKRD57 NM_023016 human genbank 54_36p 1 validated missense c.1087 p.A363T 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors MALL 7851 broad.mit.edu 36 2 110202545 110202545 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 110202545 110202545 T A SNP MALL NM_005434 human genbank 54_36p -1 validated missense c.292 p.T98S 1 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors NPHP1 4867 broad.mit.edu 36 2 110279507 110279507 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 110279507 110279507 A C SNP NPHP1 NM_000272 human genbank 54_36p -1 reviewed missense c.818 p.I273R 0.63 NULL "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors BUB1 699 broad.mit.edu 36 2 111131611 111131611 + Missense_Mutation SNP T T C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 111131611 111131611 T C SNP BUB1 NM_004336 human genbank 54_36p -1 reviewed missense c.1601 p.N534S 1 NULL "HMMPfam_Mad3_BUB1_I,HMMSmart_SM00777,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TMEM87B 84910 broad.mit.edu 36 2 112563719 112563719 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 112563719 112563719 C G SNP TMEM87B NM_032824 human genbank 54_36p 1 validated missense c.985 p.L329V 0.74 HMMPfam_Lung_7-TM_R HMMPfam_Lung_7-TM_R - no_errors ZC3H6 376940 broad.mit.edu 36 2 112806178 112806178 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 112806178 112806178 C T SNP ZC3H6 NM_198581 human genbank 54_36p 1 validated missense c.3212 p.S1071L 0.58 NULL "superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_Multiheme cytochromes" - no_errors TTL 150465 broad.mit.edu 36 2 112968226 112968226 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 112968226 112968226 G T SNP TTL NM_153712 human genbank 54_36p 1 validated missense c.272 p.C91F 1 HMMPfam_TTL "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors SLC20A1 6574 broad.mit.edu 36 2 113131287 113131287 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 113131287 113131287 A T SNP SLC20A1 NM_005415 human genbank 54_36p 1 provisional missense c.776 p.E259V 1 HMMPfam_PHO4 HMMPfam_PHO4 - no_errors IL1F7 27178 broad.mit.edu 36 2 113392753 113392753 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 113392753 113392753 G C SNP IL1F7 NM_014439 human genbank 54_36p 1 reviewed missense c.553 p.E185Q 0 "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" - no_errors IL1F9 56300 broad.mit.edu 36 2 113458926 113458926 + Silent SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 113458926 113458926 C A SNP IL1F9 NM_019618 human genbank 54_36p 1 reviewed silent c.339 p.P113 0.64 "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" - no_errors IL1F6 27179 broad.mit.edu 36 2 113480759 113480759 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 113480759 113480759 G A SNP IL1F6 NM_014440 human genbank 54_36p 1 provisional missense c.238 p.G80R 0 "superfamily_Cytok_IL1_like,HMMSmart_IL1,HMMPfam_IL1" "PatternScan_INTERLEUKIN_1,superfamily_Cytok_IL1_like,HMMSmart_IL1,HMMPfam_IL1" - no_errors IL1F8 27177 broad.mit.edu 36 2 113500251 113500251 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 113500251 113500251 C T SNP IL1F8 NM_014438 human genbank 54_36p -1 reviewed silent c.291 p.K97 0 superfamily_Cytokine superfamily_Cytokine - no_errors IL1F8 27177 broad.mit.edu 36 2 113503037 113503037 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 113503037 113503037 G C SNP IL1F8 NM_014438 human genbank 54_36p -1 reviewed missense c.211 p.L71V 0.04 superfamily_Cytokine superfamily_Cytokine - no_errors IL1RN 3557 broad.mit.edu 36 2 113605175 113605175 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 113605175 113605175 G T SNP IL1RN NM_173841 human genbank 54_36p 1 reviewed missense c.297 p.K99N 0.98 "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1" "HMMSmart_SM00125,superfamily_Cytokine,HMMPfam_IL1,PatternScan_INTERLEUKIN_1" - no_errors PSD4 23550 broad.mit.edu 36 2 113666579 113666579 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 113666579 113666579 C T SNP PSD4 NM_012455 human genbank 54_36p 1 validated missense c.1780 p.R594C 0.64 "HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222" "HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PSD4 23550 broad.mit.edu 36 2 113671627 113671627 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 113671627 113671627 G A SNP PSD4 NM_012455 human genbank 54_36p 1 validated missense c.2402 p.R801H 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors PAX8 7849 broad.mit.edu 36 2 113715597 113715597 + Splice_Site SNP C C A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 113715597 113715597 C A SNP PAX8 NM_013953 human genbank 54_36p -1 reviewed splice_site c.777+1 e6+1 1 - - - no_errors DPP10 57628 broad.mit.edu 36 2 116227231 116227231 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 116227231 116227231 T A SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed missense c.962 p.I321N 1 "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N" "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9" - no_errors DPP10 57628 broad.mit.edu 36 2 116227271 116227271 + Silent SNP A A T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 116227271 116227271 A T SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed silent c.1002 p.V334 0.48 "HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" "HMMPfam_Peptidase_S9,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" - no_errors INSIG2 51141 broad.mit.edu 36 2 118577263 118577263 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 118577263 118577263 C G SNP INSIG2 NM_016133 human genbank 54_36p 1 reviewed missense c.265 p.P89A 1 HMMPfam_INSIG HMMPfam_INSIG - no_errors MARCO 8685 broad.mit.edu 36 2 119456295 119456295 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 119456295 119456295 G T SNP MARCO NM_006770 human genbank 54_36p 1 reviewed missense c.995 p.R332L 0 NULL "HMMPfam_Collagen,superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors SCTR 6344 broad.mit.edu 36 2 119947568 119947568 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 119947568 119947568 C A SNP SCTR NM_002980 human genbank 54_36p -1 reviewed missense c.336 p.W112C 1 "superfamily_Hormone receptor domain (HRM Pfam 02793),HMMSmart_SM00008,HMMPfam_HRM" "superfamily_Hormone receptor domain (HRM Pfam 02793),HMMSmart_SM00008,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors PTPN4 5775 broad.mit.edu 36 2 120439567 120439567 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 120439567 120439567 C G SNP PTPN4 NM_002830 human genbank 54_36p 1 reviewed missense c.2434 p.Q812E 1 "superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors CLASP1 23332 broad.mit.edu 36 2 121935148 121935148 + Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 121935148 121935148 G A SNP CLASP1 NM_015282 human genbank 54_36p -1 validated missense c.1031 p.A344V 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors CNTNAP5 129684 broad.mit.edu 36 2 124978470 124978470 + Silent SNP A A C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 124978470 124978470 A C SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed silent c.1191 p.T397 0.86 "superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 broad.mit.edu 36 2 125238037 125238037 + Silent SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 125238037 125238037 C T SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed silent c.2373 p.N791 1 superfamily_ConA_like_lec_gl ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 broad.mit.edu 36 2 125246891 125246891 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 125246891 125246891 T C SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed missense c.2576 p.V859A 0 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP5 129684 broad.mit.edu 36 2 125388238 125388238 + Missense_Mutation SNP A A C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 125388238 125388238 A C SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed missense c.3824 p.K1275T 1 NULL ############################################################################################################################################################################################################################################################### - no_errors BIN1 274 broad.mit.edu 36 2 127536175 127536175 + Silent SNP G G C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 127536175 127536175 G C SNP BIN1 NM_139343 human genbank 54_36p -1 reviewed silent c.843 p.V281 0.85 NULL "HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors BIN1 274 broad.mit.edu 36 2 127544637 127544637 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 127544637 127544637 C T SNP BIN1 NM_139343 human genbank 54_36p -1 reviewed missense c.277 p.D93N 0.99 "HMMPfam_BAR,HMMSmart_SM00721" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_BAR,HMMSmart_SM00721" - no_errors ERCC3 2071 broad.mit.edu 36 2 127762878 127762878 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 127762878 127762878 G A SNP ERCC3 NM_000122 human genbank 54_36p -1 reviewed silent c.855 p.I285 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_ResIII,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors MAP3K2 10746 broad.mit.edu 36 2 127799790 127799790 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 127799790 127799790 C G SNP MAP3K2 NM_006609 human genbank 54_36p -1 reviewed missense c.661 p.D221H 1 NULL "HMMPfam_PB1,HMMSmart_SM00666,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors PROC 5624 broad.mit.edu 36 2 127893996 127893996 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 127893996 127893996 A C SNP PROC NM_000312 human genbank 54_36p 1 validated missense c.8 p.Q3P 0.29 NULL ############################################################################################################################################################################################################################################################### - no_errors IWS1 55677 broad.mit.edu 36 2 127978935 127978937 + In_Frame_Del DEL CTT - CTT novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 CTT CTT - - CTT CTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 127978935 127978937 CTT - DEL IWS1 NM_017969 human genbank 54_36p -1 validated in_frame_del c.1014_1012 p.K338in_frame_del 0.000:0.001:0.004 NULL HMMPfam_IWS1_C "(deletion:cds_exon[127978730,127979798])" no_errors MYO7B 4648 broad.mit.edu 36 2 128082867 128082867 + Frame_Shift_Del DEL G - G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 128082867 128082867 G - DEL MYO7B NM_001080527 human genbank 54_36p 1 provisional frame_shift_del c.2758 p.G920fs 1 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[128082753,128082923])" no_errors MYO7B 4648 broad.mit.edu 36 2 128097353 128097353 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 128097353 128097353 A T SNP MYO7B NM_001080527 human genbank 54_36p 1 provisional missense c.3674 p.H1225L 0 HMMSmart_SM00295 ############################################################################################################################################################################################################################################################### - no_errors MYO7B 4648 broad.mit.edu 36 2 128101356 128101356 + Splice_Site SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 128101356 128101356 G T SNP MYO7B NM_001080527 human genbank 54_36p 1 provisional splice_site c.4382+1 e31+1 1 - - - no_errors SAP130 79595 broad.mit.edu 36 2 128429381 128429381 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 128429381 128429381 G T SNP SAP130 NM_024545 human genbank 54_36p -1 validated missense c.2044 p.P682T 1 NULL NULL - no_errors SAP130 79595 broad.mit.edu 36 2 128470461 128470473 + Frame_Shift_Del DEL GGCTACTCCTCTC - GGCTACTCCTCTC novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 GGCTACTCCTCTC GGCTACTCCTCTC - - GGCTACTCCTCTC GGCTACTCCTCTC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 128470461 128470473 GGCTACTCCTCTC - DEL SAP130 NM_024545 human genbank 54_36p -1 validated frame_shift_del c.1366_1354 p.E452fs 1.000:1.000:1.000:0.998:0.784:0.986:0.996:1.000:1.000:1.000:1.000:1.000:0.999 NULL NULL "(deletion:cds_exon[128470394,128470535])" no_errors POTEF 728378 broad.mit.edu 36 2 130594259 130594259 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 130594259 130594259 C A SNP POTEF NM_001099771 human genbank 54_36p -1 validated missense c.300 p.K100N 0.01 superfamily_ANK "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors PTPN18 26469 broad.mit.edu 36 2 130833295 130833295 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 130833295 130833295 C G SNP PTPN18 NM_014369 human genbank 54_36p 1 reviewed missense c.222 p.I74M 0.08 "HMMSmart_PTPc,superfamily_SSF52799,HMMPfam_Y_phosphatase" "HMMSmart_PTPc,superfamily_SSF52799,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPN18 26469 broad.mit.edu 36 2 130843191 130843191 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 130843191 130843191 T C SNP PTPN18 NM_014369 human genbank 54_36p 1 reviewed missense c.430 p.Y144H 1 "HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799" "HMMPfam_Y_phosphatase,HMMSmart_PTPc,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799" - no_errors FAM123C 205147 broad.mit.edu 36 2 131237037 131237037 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 131237037 131237037 A T SNP FAM123C NM_001105193 human genbank 54_36p 1 validated missense c.922 p.R308W 0.22 HMMPfam_WTX HMMPfam_WTX - no_errors FAM123C 205147 broad.mit.edu 36 2 131238031 131238031 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 131238031 131238031 C G SNP FAM123C NM_001105193 human genbank 54_36p 1 validated missense c.1916 p.P639R 0.05 NULL HMMPfam_WTX - no_errors ARHGEF4 50649 broad.mit.edu 36 2 131502028 131502028 + Silent SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 131502028 131502028 C T SNP ARHGEF4 NM_015320 human genbank 54_36p 1 reviewed silent c.468 p.D156 0.79 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors ARHGEF4 50649 broad.mit.edu 36 2 131502040 131502040 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 131502040 131502040 C A SNP ARHGEF4 NM_015320 human genbank 54_36p 1 reviewed missense c.480 p.S160R 0.98 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors ARHGEF4 50649 broad.mit.edu 36 2 131517605 131517605 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 131517605 131517605 C T SNP ARHGEF4 NM_015320 human genbank 54_36p 1 reviewed silent c.1578 p.H526 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors ARHGEF4 50649 broad.mit.edu 36 2 131519516 131519516 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 131519516 131519516 C T SNP ARHGEF4 NM_032995 human genbank 54_36p 1 reviewed missense c.1948 p.R650W 0 NULL "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors PLEKHB2 55041 broad.mit.edu 36 2 131600758 131600758 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 131600758 131600758 C G SNP PLEKHB2 NM_001100623 human genbank 54_36p 1 validated missense c.222 p.D74E 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors POTEE 445582 broad.mit.edu 36 2 131692496 131692497 + Frame_Shift_Del DEL AT - AT novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 AT AT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 131692496 131692497 AT - DEL POTEE NM_001083538 human genbank 54_36p 1 validated frame_shift_del c.51_52 p.F18fs 0.000:0.000 NULL "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" "(deletion:cds_exon[131692446,131692966])" no_errors NCKAP5 344148 broad.mit.edu 36 2 133256692 133256692 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 133256692 133256692 G C SNP NAP5 NM_207363 human genbank 54_36p -1 validated missense c.4162 p.Q1388E 0 NULL NULL - no_errors NCKAP5 344148 broad.mit.edu 36 2 133257527 133257527 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 133257527 133257527 C A SNP NAP5 NM_207363 human genbank 54_36p -1 validated missense c.3327 p.E1109D 0.17 NULL NULL - no_errors NCKAP5 344148 broad.mit.edu 36 2 133258686 133258686 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 133258686 133258686 C G SNP NAP5 NM_207363 human genbank 54_36p -1 validated missense c.2168 p.R723T 0.19 NULL NULL - no_errors MGAT5 4249 broad.mit.edu 36 2 134728478 134728478 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 134728478 134728478 C T SNP MGAT5 NM_002410 human genbank 54_36p 1 validated nonsense c.34 p.Q12* 1 NULL NULL - no_errors CCNT2 905 broad.mit.edu 36 2 135428303 135428303 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 135428303 135428303 T G SNP CCNT2 NM_058241 human genbank 54_36p 1 reviewed missense c.1808 p.V603G 1 NULL "superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385" - no_errors CCNT2 905 broad.mit.edu 36 2 135428333 135428333 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 135428333 135428333 G A SNP CCNT2 NM_058241 human genbank 54_36p 1 reviewed missense c.1838 p.S613N 0.9 NULL "HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like" - no_errors YSK4 80122 broad.mit.edu 36 2 135455238 135455238 + Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 135455238 135455238 A T SNP YSK4 NM_025052 human genbank 54_36p -1 validated nonsense c.3543 p.C1181* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors YSK4 80122 broad.mit.edu 36 2 135461854 135461854 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 135461854 135461854 C A SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.1058 p.G353V 0 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors YSK4 80122 broad.mit.edu 36 2 135495793 135495793 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 135495793 135495793 T A SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.100 p.N34Y 0.89 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors LCT 3938 broad.mit.edu 36 2 136281181 136281181 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 136281181 136281181 G A SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.4160 p.S1387F 0.63 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_2" "superfamily_Glyco_hydro_cat,HMMPfam_Glyco_hydro_1,PatternScan_GLYCOSYL_HYDROL_F1_2,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors LCT 3938 broad.mit.edu 36 2 136283658 136283658 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 136283658 136283658 C A SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.2729 p.G910V 1 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_2" "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors THSD7B 80731 broad.mit.edu 36 2 137885763 137885763 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 137885763 137885763 G T SNP THSD7B NM_001080427 human genbank 54_36p 1 provisional missense c.2717 p.C906F 1 "HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors HNMT 3176 broad.mit.edu 36 2 138487892 138487892 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 138487892 138487892 T A SNP HNMT NM_006895 human genbank 54_36p 1 reviewed missense c.601 p.S201T 0.23 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors LRP1B 53353 broad.mit.edu 36 2 140847100 140847100 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 140847100 140847100 C T SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.10715 p.C3572Y 1 "HMMPfam_Ldl_recept_a,superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_LDLa,PatternScan_LDLRA_1" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 broad.mit.edu 36 2 140918674 140918674 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 140918674 140918674 G A SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.10102 p.L3368F 0.99 "HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 broad.mit.edu 36 2 141075582 141075582 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 141075582 141075582 T A SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.6896 p.D2299V 1 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP1B 53353 broad.mit.edu 36 2 141287810 141287810 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 141287810 141287810 A G SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.5245 p.W1749R 1 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors ARHGAP15 55843 broad.mit.edu 36 2 143909649 143909649 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 143909649 143909649 G T SNP ARHGAP15 NM_018460 human genbank 54_36p 1 validated missense c.484 p.V162L 0.96 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors ZEB2 9839 broad.mit.edu 36 2 144863773 144863773 + Silent SNP C C A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 144863773 144863773 C A SNP ZEB2 NM_014795 human genbank 54_36p -1 validated silent c.3360 p.G1120 1 NULL "PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX" - no_errors ZEB2 9839 broad.mit.edu 36 2 144878083 144878083 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 144878083 144878083 A G SNP ZEB2 NM_014795 human genbank 54_36p -1 validated missense c.677 p.L226P 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1,superfamily_SSF57667" - no_errors ZEB2 9839 broad.mit.edu 36 2 144903880 144903880 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 144903880 144903880 T C SNP ZEB2 NM_014795 human genbank 54_36p -1 validated missense c.257 p.D86G 1 NULL "HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1,superfamily_SSF57667" - no_errors ORC4 5000 broad.mit.edu 36 2 148409633 148409633 + Silent SNP A A G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 148409633 148409633 A G SNP ORC4L NM_002552 human genbank 54_36p -1 reviewed silent c.1227 p.T409 1 NULL "superfamily_SSF52540,HMMSmart_AAA" - no_errors MBD5 55777 broad.mit.edu 36 2 148963614 148963614 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 148963614 148963614 G T SNP MBD5 NM_018328 human genbank 54_36p 1 validated missense c.3244 p.D1082Y 1 NULL "HMMSmart_SM00391,HMMPfam_MBD,superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP" - no_errors LYPD6B 130576 broad.mit.edu 36 2 149777755 149777755 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 149777755 149777755 C T SNP LYPD6B NM_177964 human genbank 54_36p 1 provisional missense c.332 p.T111I 1 "superfamily_SSF57302,HMMSmart_LU" "superfamily_SSF57302,HMMSmart_LU" - no_errors RIF1 55183 broad.mit.edu 36 2 152002102 152002102 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152002102 152002102 G C SNP RIF1 NM_018151 human genbank 54_36p 1 validated missense c.1474 p.D492H 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1" - no_errors RIF1 55183 broad.mit.edu 36 2 152022519 152022519 + Splice_Site SNP A A G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152022519 152022519 A G SNP RIF1 NM_018151 human genbank 54_36p 1 validated splice_site c.2653-2 e23-2 1 - - - no_errors RIF1 55183 broad.mit.edu 36 2 152022643 152022643 + Silent SNP A A G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 152022643 152022643 A G SNP RIF1 NM_018151 human genbank 54_36p 1 validated silent c.2775 p.K925 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1" - no_errors NEB 4703 broad.mit.edu 36 2 152070318 152070318 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152070318 152070318 C G SNP NEB NM_004543 human genbank 54_36p -1 reviewed missense c.18559 p.E6187Q 1 "HMMSmart_SM00227,HMMPfam_Nebulin" "HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors NEB 4703 broad.mit.edu 36 2 152101951 152101951 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152101951 152101951 A C SNP NEB NM_004543 human genbank 54_36p -1 reviewed missense c.16045 p.Y5349D 1 HMMSmart_SM00227 "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" - no_errors NEB 4703 broad.mit.edu 36 2 152106206 152106206 + Splice_Site DEL C - C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 152106206 152106206 C - DEL NEB NM_004543 human genbank 54_36p -1 reviewed splice_site_del c.15579+1 e107+1 1 - - "(deletion:intron[152105562,152106206])" no_errors NEB 4703 broad.mit.edu 36 2 152110759 152110760 + Splice_Site INS - T - novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 152110759 152110760 - T INS NEB NM_004543 human genbank 54_36p -1 reviewed splice_site_ins c.15364-2_15364-1 e106-1 1.000:0.970 - - - no_errors NEB 4703 broad.mit.edu 36 2 152207370 152207370 + Silent SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152207370 152207370 G T SNP NEB NM_004543 human genbank 54_36p -1 reviewed silent c.8337 p.I2779 1 "HMMPfam_Nebulin,HMMSmart_SM00227" "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" - no_errors NEB 4703 broad.mit.edu 36 2 152274462 152274463 + Frame_Shift_Ins INS - T - novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W - - T T - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 152274462 152274463 - T INS NEB NM_004543 human genbank 54_36p -1 reviewed frame_shift_ins c.989_988 p.T330fs 0.999:1.000 "HMMSmart_SM00227,HMMPfam_Nebulin" "HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors CACNB4 785 broad.mit.edu 36 2 152404090 152404090 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152404090 152404090 T A SNP CACNB4 NM_000726 human genbank 54_36p -1 reviewed missense c.1352 p.E451V 1 NULL "superfamily_SH3-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072" - no_errors CACNB4 785 broad.mit.edu 36 2 152437208 152437208 + Silent SNP A A T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152437208 152437208 A T SNP CACNB4 NM_000726 human genbank 54_36p -1 reviewed silent c.567 p.S189 0.98 superfamily_SH3-domain "HMMPfam_Ca_channel_B,superfamily_SH3-domain,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors STAM2 10254 broad.mit.edu 36 2 152696898 152696898 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 152696898 152696898 T G SNP STAM2 NM_005843 human genbank 54_36p -1 reviewed missense c.1001 p.D334A 1 NULL "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,HMMPfam_UIM,HMMSmart_SM00726,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors FMNL2 114793 broad.mit.edu 36 2 153184315 153184315 + Silent SNP C C A rs72290335 Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 153184315 153184315 C A SNP FMNL2 NM_052905 human genbank 54_36p 1 reviewed silent c.1674 p.P558 0.59 NULL "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors FMNL2 114793 broad.mit.edu 36 2 153184318 153184318 + Silent SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 153184318 153184318 T C SNP FMNL2 NM_052905 human genbank 54_36p 1 reviewed silent c.1677 p.P559 0.49 NULL "HMMSmart_FH2,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_FH2_actin_bd" - no_errors GALNT13 114805 broad.mit.edu 36 2 154960832 154960832 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 154960832 154960832 C A SNP GALNT13 NM_052917 human genbank 54_36p 1 validated missense c.1240 p.L414I 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors GALNT13 114805 broad.mit.edu 36 2 155015182 155015182 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 155015182 155015182 G A SNP GALNT13 NM_052917 human genbank 54_36p 1 validated missense c.1544 p.R515Q 1 "HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins" "HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors ERMN 57471 broad.mit.edu 36 2 157886480 157886480 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 157886480 157886480 G A SNP ERMN NM_001009959 human genbank 54_36p -1 validated missense c.443 p.T148I 0 NULL NULL - no_errors CYTIP 9595 broad.mit.edu 36 2 157980773 157980773 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 157980773 157980773 T A SNP CYTIP NM_004288 human genbank 54_36p -1 reviewed missense c.742 p.S248C 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors ACVR1C 130399 broad.mit.edu 36 2 158107611 158107612 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 158107611 158107612 GC AA DNP ACVR1C NM_145259 human genbank 54_36p -1 validated missense c.953_952 p.A318F 1.000:1.000 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase" "superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ACVR1 90 broad.mit.edu 36 2 158345220 158345220 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 158345220 158345220 C A SNP ACVR1 NM_001105 human genbank 54_36p -1 reviewed missense c.206 p.G69V 1 "HMMPfam_Activin_recp,superfamily_SSF57302" "HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PKP4 8502 broad.mit.edu 36 2 159196682 159196682 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 159196682 159196682 T C SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed missense c.1325 p.L442S 0.97 NULL "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors PKP4 8502 broad.mit.edu 36 2 159226104 159226104 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 159226104 159226104 G A SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed missense c.2107 p.A703T 1 superfamily_ARM repeat "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors PKP4 8502 broad.mit.edu 36 2 159227811 159227811 + Nonsense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 159227811 159227811 A T SNP PKP4 NM_003628 human genbank 54_36p 1 reviewed nonsense c.2368 p.K790* 1 superfamily_ARM repeat "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors TANC1 85461 broad.mit.edu 36 2 159743390 159743390 + Silent SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 159743390 159743390 G A SNP TANC1 NM_033394 human genbank 54_36p 1 validated silent c.1980 p.L660 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2" - no_errors TANC1 85461 broad.mit.edu 36 2 159794435 159794435 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 159794435 159794435 A T SNP TANC1 NM_033394 human genbank 54_36p 1 validated nonsense c.4252 p.K1418* 1 superfamily_TPR-like "HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TANC1 85461 broad.mit.edu 36 2 159794529 159794529 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 159794529 159794529 G T SNP TANC1 NM_033394 human genbank 54_36p 1 validated missense c.4346 p.G1449V 0 NULL "HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TANC1 85461 broad.mit.edu 36 2 159794846 159794846 + Nonsense_Mutation SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 159794846 159794846 C T SNP TANC1 NM_033394 human genbank 54_36p 1 validated nonsense c.4663 p.Q1555* 0 NULL "HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TANC1 85461 broad.mit.edu 36 2 159794874 159794874 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 159794874 159794874 G C SNP TANC1 NM_033394 human genbank 54_36p 1 validated missense c.4691 p.S1564T 1 NULL "HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TANC1 85461 broad.mit.edu 36 2 159795659 159795659 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 159795659 159795659 C G SNP TANC1 NM_033394 human genbank 54_36p 1 validated missense c.5476 p.L1826V 0.05 NULL "HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors BAZ2B 29994 broad.mit.edu 36 2 159997727 159997727 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 159997727 159997727 C T SNP BAZ2B NM_013450 human genbank 54_36p -1 validated missense c.1687 p.G563R 1 NULL "superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors PLA2R1 22925 broad.mit.edu 36 2 160542040 160542040 + Splice_Site SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 160542040 160542040 C T SNP PLA2R1 NM_007366 human genbank 54_36p -1 validated splice_site c.2401+1 e15+1 1 - - - no_errors ITGB6 3694 broad.mit.edu 36 2 160702284 160702284 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 160702284 160702284 T C SNP ITGB6 NM_000888 human genbank 54_36p -1 provisional missense c.1567 p.I523V 0.53 "superfamily_EGF/Laminin,HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA" ############################################################################################################################################################################################################################################################### - no_errors RBMS1 5937 broad.mit.edu 36 2 161058099 161058099 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 161058099 161058099 G A SNP RBMS1 NM_016836 human genbank 54_36p -1 reviewed nonsense c.22 p.Q8* 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors SLC4A10 57282 broad.mit.edu 36 2 162515553 162515553 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162515553 162515553 G A SNP SLC4A10 NM_022058 human genbank 54_36p 1 validated missense c.2400 p.M800I 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1" - no_errors DPP4 1803 broad.mit.edu 36 2 162589655 162589655 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162589655 162589655 T C SNP DPP4 NM_001935 human genbank 54_36p -1 reviewed missense c.928 p.R310G 0.26 "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N" "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors DPP4 1803 broad.mit.edu 36 2 162589667 162589667 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162589667 162589667 C T SNP DPP4 NM_001935 human genbank 54_36p -1 reviewed missense c.916 p.A306T 0.99 "HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" "HMMPfam_Peptidase_S9,HMMPfam_DPPIV_N,PatternScan_PRO_ENDOPEP_SER,superfamily_alpha/beta-Hydrolases,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain" - no_errors FAP 2191 broad.mit.edu 36 2 162735796 162735796 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162735796 162735796 G T SNP FAP NM_004460 human genbank 54_36p -1 reviewed missense c.2222 p.T741K 0.01 "superfamily_SSF53474,HMMPfam_Peptidase_S9" "superfamily_SSF82171,HMMPfam_DPPIV_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER" - no_errors FAP 2191 broad.mit.edu 36 2 162753120 162753156 + Splice_Site DEL CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG - CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 162753120 162753156 CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG - DEL FAP NM_004460 human genbank 54_36p -1 reviewed splice_site_del c.1620-37_1620-1 e20-1 1.000:1.000:0.983:0.937:0.460:0.017:0.001:0.008:0.005:0.005:0.004:0.003:0.000:0.001:0.001:0.002:0.001:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.002:0.000:0.001:0.001:0.009:0.001:0.000:0.000 - - "(deletion:intron[162753120,162753858])" no_errors IFIH1 64135 broad.mit.edu 36 2 162852935 162852935 + Missense_Mutation SNP T T C rs35207787 Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162852935 162852935 T C SNP IFIH1 NM_022168 human genbank 54_36p -1 reviewed missense c.1051 p.K351E 0.82 "HMMSmart_SM00487,HMMPfam_ResIII,superfamily_P-loop containing nucleoside triphosphate hydrolases" "superfamily_DEATH domain,HMMPfam_CARD,HMMSmart_SM00487,HMMPfam_ResIII,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors GCA 25801 broad.mit.edu 36 2 162912415 162912415 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 162912415 162912415 G T SNP GCA NM_012198 human genbank 54_36p 1 validated nonsense c.109 p.G37* 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1" - no_errors KCNH7 90134 broad.mit.edu 36 2 162961626 162961626 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162961626 162961626 A T SNP KCNH7 NM_033272 human genbank 54_36p -1 reviewed missense c.2483 p.L828H 1 "superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" "superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors KCNH7 90134 broad.mit.edu 36 2 162988192 162988192 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 162988192 162988192 T C SNP KCNH7 NM_033272 human genbank 54_36p -1 reviewed missense c.2054 p.E685G 1 superfamily_cAMP-binding domain-like "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors KCNH7 90134 broad.mit.edu 36 2 163010919 163010919 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 163010919 163010919 A C SNP KCNH7 NM_033272 human genbank 54_36p -1 reviewed missense c.1409 p.F470C 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors FIGN 55137 broad.mit.edu 36 2 164175267 164175267 + Missense_Mutation SNP G G T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 164175267 164175267 G T SNP FIGN NM_018086 human genbank 54_36p -1 validated missense c.1321 p.P441T 1 NULL "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,PatternScan_AAA" - no_errors GRB14 2888 broad.mit.edu 36 2 165057912 165057912 + Silent SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 165057912 165057912 G A SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed silent c.1503 p.H501 1 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "HMMPfam_RA,HMMSmart_RA,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_BPS,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" - no_errors GRB14 2888 broad.mit.edu 36 2 165184567 165184567 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 165184567 165184567 T A SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed missense c.200 p.K67M 1 NULL "HMMPfam_RA,HMMSmart_RA,HMMPfam_SH2,HMMSmart_SH2,HMMPfam_PH,HMMSmart_PH,HMMPfam_BPS,superfamily_SSF50729,superfamily_SSF55550" - no_errors COBLL1 22837 broad.mit.edu 36 2 165259032 165259032 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 165259032 165259032 G C SNP COBLL1 NM_014900 human genbank 54_36p -1 validated missense c.3230 p.S1077C 0 NULL HMMPfam_Cobl - no_errors COBLL1 22837 broad.mit.edu 36 2 165259149 165259149 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 165259149 165259149 C T SNP COBLL1 NM_014900 human genbank 54_36p -1 validated missense c.3113 p.S1038N 0.97 NULL HMMPfam_Cobl - no_errors SCN3A 6328 broad.mit.edu 36 2 165655606 165655606 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 165655606 165655606 G C SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.5303 p.A1768G 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ" - no_errors SCN3A 6328 broad.mit.edu 36 2 165656048 165656048 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 165656048 165656048 G A SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed nonsense c.4861 p.R1621* 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324" - no_errors SCN3A 6328 broad.mit.edu 36 2 165660402 165660402 + Silent SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 165660402 165660402 A G SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed silent c.4296 p.V1432 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324" - no_errors SCN3A 6328 broad.mit.edu 36 2 165711590 165711590 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 165711590 165711590 A G SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.1576 p.S526P 1 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324" - no_errors SCN2A 6326 broad.mit.edu 36 2 165880396 165880396 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 165880396 165880396 A G SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed missense c.1553 p.E518G 0.99 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN2A 6326 broad.mit.edu 36 2 165907090 165907090 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 165907090 165907090 G T SNP SCN2A NM_001040142 human genbank 54_36p 1 reviewed missense c.2427 p.K809N 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors CSRNP3 80034 broad.mit.edu 36 2 166222658 166222658 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166222658 166222658 G A SNP CSRNP3 NM_024969 human genbank 54_36p 1 provisional missense c.290 p.R97H 1 NULL NULL - no_errors CSRNP3 80034 broad.mit.edu 36 2 166243760 166243760 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166243760 166243760 G C SNP CSRNP3 NM_024969 human genbank 54_36p 1 provisional missense c.1009 p.D337H 1 NULL NULL - no_errors TTC21B 79809 broad.mit.edu 36 2 166505814 166505814 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166505814 166505814 C A SNP TTC21B NM_024753 human genbank 54_36p -1 validated missense c.679 p.D227Y 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors SCN1A 6323 broad.mit.edu 36 2 166556278 166556278 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166556278 166556278 G C SNP SCN1A NM_006920 human genbank 54_36p -1 validated missense c.5720 p.S1907C 1 "HMMSmart_IQ,HMMPfam_IQ" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P" - no_errors SCN1A 6323 broad.mit.edu 36 2 166600990 166600990 + Silent SNP T T A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166600990 166600990 T A SNP SCN1A NM_006920 human genbank 54_36p -1 validated silent c.3210 p.G1070 1 HMMPfam_Na_trans_assoc "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324" - no_errors SCN9A 6335 broad.mit.edu 36 2 166793592 166793592 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 166793592 166793592 G T SNP SCN9A NM_002977 human genbank 54_36p -1 validated missense c.4028 p.T1343K 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN9A 6335 broad.mit.edu 36 2 166802907 166802907 + Silent SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166802907 166802907 A G SNP SCN9A NM_002977 human genbank 54_36p -1 validated silent c.3711 p.Y1237 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN9A 6335 broad.mit.edu 36 2 166857999 166857999 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 166857999 166857999 G C SNP SCN9A NM_002977 human genbank 54_36p -1 validated missense c.1095 p.N365K 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN7A 6332 broad.mit.edu 36 2 166970365 166970365 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 166970365 166970365 C T SNP SCN7A NM_002976 human genbank 54_36p -1 validated missense c.5020 p.E1674K 0.07 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc" - no_errors SCN7A 6332 broad.mit.edu 36 2 167037189 167037189 + Silent SNP A A T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 167037189 167037189 A T SNP SCN7A NM_002976 human genbank 54_36p -1 validated silent c.456 p.L152 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors XIRP2 129446 broad.mit.edu 36 2 167809621 167809621 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 167809621 167809621 A T SNP XIRP2 NM_152381 human genbank 54_36p 1 validated missense c.3473 p.Q1158L 0.99 NULL HMMPfam_Xin - no_errors XIRP2 129446 broad.mit.edu 36 2 167811897 167811897 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 167811897 167811897 C A SNP XIRP2 NM_152381 human genbank 54_36p 1 validated missense c.5749 p.L1917I 0.98 NULL HMMPfam_Xin - no_errors XIRP2 129446 broad.mit.edu 36 2 167822992 167822992 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 167822992 167822992 C A SNP XIRP2 NM_001079810 human genbank 54_36p 1 validated missense c.1690 p.P564T 1 NULL "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors B3GALT1 8708 broad.mit.edu 36 2 168434166 168434166 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 168434166 168434166 C A SNP B3GALT1 NM_020981 human genbank 54_36p 1 reviewed missense c.371 p.P124H 0.98 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors ABCB11 8647 broad.mit.edu 36 2 169541442 169541451 + Splice_Site DEL TTCTGGAGTG - TTCTGGAGTG novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 TTCTGGAGTG TTCTGGAGTG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 169541442 169541451 TTCTGGAGTG - DEL ABCB11 NM_003742 human genbank 54_36p -1 reviewed splice_site_del c.1199_1198 p.K400fs 1.000:0.999 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" "(deletion:cds_exon[169541333,169541443], intron[169541444,169544621])" no_errors LRP2 4036 broad.mit.edu 36 2 169742717 169742717 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 169742717 169742717 G T SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.10235 p.A3412D 1 "superfamily_SSF63825,HMMPfam_Ldl_recept_b,HMMSmart_LY" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169771293 169771293 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 169771293 169771293 A G SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.7183 p.S2395P 0.97 superfamily_SSF63825 ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169771586 169771586 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 169771586 169771586 A G SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.6890 p.L2297S 1 "HMMPfam_Ldl_recept_b,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169776879 169776879 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 169776879 169776879 G C SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.6125 p.S2042C 1 "HMMSmart_EGF,superfamily_SSF57196" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169778553 169778553 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 169778553 169778553 G T SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.5900 p.A1967E 0.59 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169778578 169778578 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 169778578 169778578 G T SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.5875 p.Q1959K 0.63 "HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169812238 169812238 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 169812238 169812238 G A SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.2804 p.A935V 0 "HMMSmart_LY,superfamily_SSF63825" ############################################################################################################################################################################################################################################################### - no_errors LRP2 4036 broad.mit.edu 36 2 169855736 169855736 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 169855736 169855736 C T SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.787 p.V263I 0 superfamily_LDL_rcpt_classA_cys-rich ############################################################################################################################################################################################################################################################### - no_errors BBS5 129880 broad.mit.edu 36 2 170044343 170044343 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 170044343 170044343 G T SNP BBS5 NM_152384 human genbank 54_36p 1 reviewed missense c.34 p.D12Y 1 HMMPfam_DUF1448 "HMMPfam_DUF1448,HMMSmart_SM00683" - no_errors FASTKD1 79675 broad.mit.edu 36 2 170102011 170102011 + Silent SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 170102011 170102011 C T SNP FASTKD1 NM_024622 human genbank 54_36p -1 validated silent c.2160 p.S720 0.32 HMMPfam_FAST_2 "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors FASTKD1 79675 broad.mit.edu 36 2 170125449 170125449 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 170125449 170125449 G C SNP FASTKD1 NM_024622 human genbank 54_36p -1 validated missense c.665 p.T222S 0.93 NULL "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors UBR3 130507 broad.mit.edu 36 2 170580092 170580092 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 170580092 170580092 G T SNP UBR3 NM_172070 human genbank 54_36p 1 validated missense c.982 p.A328S 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4" - no_errors MYO3B 140469 broad.mit.edu 36 2 170948469 170948498 + In_Frame_Del DEL TCCAGACTTTATCATGGGGTGAAACGCGCC - TCCAGACTTTATCATGGGGTGAAACGCGCC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D TCCAGACTTTATCATGGGGTGAAACGCGCC TCCAGACTTTATCATGGGGTGAAACGCGCC - - TCCAGACTTTATCATGGGGTGAAACGCGCC TCCAGACTTTATCATGGGGTGAAACGCGCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 170948469 170948498 TCCAGACTTTATCATGGGGTGAAACGCGCC - DEL MYO3B NM_138995 human genbank 54_36p 1 provisional in_frame_del c.1189_1218 p.RLYHGVKRAS398in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.993:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:0.993:0.997:0.997 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[170948466,170948570])" no_errors MYO3B 140469 broad.mit.edu 36 2 170957158 170957158 + Silent SNP A A T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 170957158 170957158 A T SNP MYO3B NM_138995 human genbank 54_36p 1 provisional silent c.1698 p.G566 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors MYO3B 140469 broad.mit.edu 36 2 170969051 170969051 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 170969051 170969051 G C SNP MYO3B NM_138995 human genbank 54_36p 1 provisional missense c.2326 p.D776H 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors MYO3B 140469 broad.mit.edu 36 2 171064420 171064420 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 171064420 171064420 C G SNP MYO3B NM_138995 human genbank 54_36p 1 provisional missense c.3145 p.H1049D 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors GAD1 2571 broad.mit.edu 36 2 171395746 171395746 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 171395746 171395746 A T SNP GAD1 NM_000817 human genbank 54_36p 1 reviewed missense c.345 p.Q115H 1 superfamily_PLP-dependent transferases "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC" - no_errors DLX2 1746 broad.mit.edu 36 2 172675253 172675253 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 172675253 172675253 A T SNP DLX2 NM_004405 human genbank 54_36p -1 reviewed missense c.260 p.M87K 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PDK1 5163 broad.mit.edu 36 2 173137530 173137531 + Missense_Mutation DNP CA CA AC novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 173137530 173137531 CA AC DNP PDK1 NM_002610 human genbank 54_36p 1 reviewed missense c.464_465 p.T155N 1.000:0.899 "superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain,HMMPfam_BCDHK_Adom3" "superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain,HMMPfam_BCDHK_Adom3,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMSmart_SM00387" - no_errors SP3 6670 broad.mit.edu 36 2 174528838 174528838 + Silent SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 174528838 174528838 G A SNP SP3 NM_003111 human genbank 54_36p -1 reviewed silent c.648 p.A216 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors OLA1 29789 broad.mit.edu 36 2 174714837 174714837 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 174714837 174714837 C G SNP OLA1 NM_013341 human genbank 54_36p -1 validated missense c.511 p.A171P 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1,HMMPfam_YchF-GTPase_C,superfamily_TGS-like" - no_errors SCRN3 79634 broad.mit.edu 36 2 174977289 174977289 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 174977289 174977289 G C SNP SCRN3 NM_024583 human genbank 54_36p 1 validated missense c.754 p.G252R 1 NULL NULL - no_errors GPR155 151556 broad.mit.edu 36 2 175039537 175039537 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 175039537 175039537 G C SNP GPR155 NM_001033045 human genbank 54_36p -1 validated missense c.1247 p.T416S 0.44 NULL "HMMPfam_Mem_trans,superfamily_Winged helix DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP" - no_errors WIPF1 7456 broad.mit.edu 36 2 175144666 175144666 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 175144666 175144666 G T SNP WIPF1 NM_001077269 human genbank 54_36p -1 reviewed missense c.1113 p.D371E 0.55 NULL "HMMPfam_WH2,HMMSmart_SM00246" - no_errors WIPF1 7456 broad.mit.edu 36 2 175145134 175145134 + Silent SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 175145134 175145134 G A SNP WIPF1 NM_001077269 human genbank 54_36p -1 reviewed silent c.645 p.P215 0.03 NULL "HMMPfam_WH2,HMMSmart_SM00246" - no_errors CHRNA1 1134 broad.mit.edu 36 2 175326556 175326556 + Silent SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 175326556 175326556 G A SNP CHRNA1 NM_001039523 human genbank 54_36p -1 reviewed silent c.774 p.Y258 1 superfamily_Neurotransmitter-gated ion-channel transmembrane pore "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHRNA1 1134 broad.mit.edu 36 2 175327322 175327322 + Silent SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 175327322 175327322 C T SNP CHRNA1 NM_001039523 human genbank 54_36p -1 reviewed silent c.486 p.T162 0.02 "HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors KIAA1715 80856 broad.mit.edu 36 2 176512585 176512585 + Silent SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 176512585 176512585 T C SNP KIAA1715 NM_030650 human genbank 54_36p -1 validated silent c.753 p.R251 1 NULL HMMPfam_DUF2296 - no_errors EVX2 344191 broad.mit.edu 36 2 176653723 176653723 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 176653723 176653723 G T SNP EVX2 NM_001080458 human genbank 54_36p -1 provisional nonsense c.789 p.Y263* 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors EVX2 344191 broad.mit.edu 36 2 176656622 176656622 + Silent SNP C C A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 176656622 176656622 C A SNP EVX2 NM_001080458 human genbank 54_36p -1 provisional silent c.129 p.S43 1 NULL "HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1" - no_errors HOXD12 3238 broad.mit.edu 36 2 176672933 176672933 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 176672933 176672933 C A SNP HOXD12 ENST00000306412 human ensembl 54_36p 1 known missense c.158 p.A53D 0.89 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXD10 3236 broad.mit.edu 36 2 176690444 176690444 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 176690444 176690444 G A SNP HOXD10 NM_002148 human genbank 54_36p 1 reviewed missense c.637 p.V213I 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors MTX2 10651 broad.mit.edu 36 2 176899855 176899855 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 176899855 176899855 G A SNP MTX2 NM_006554 human genbank 54_36p 1 reviewed missense c.265 p.V89I 1 HMMPfam_Tom37 "HMMPfam_Tom37,superfamily_GST_C_like" - no_errors HNRNPA3 220988 broad.mit.edu 36 2 177790721 177790721 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 177790721 177790721 G T SNP HNRNPA3 NM_194247 human genbank 54_36p 1 validated missense c.863 p.G288V 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors AGPS 8540 broad.mit.edu 36 2 178010001 178010001 + Silent SNP C C A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 178010001 178010001 C A SNP AGPS NM_003659 human genbank 54_36p 1 reviewed silent c.610 p.R204 1 superfamily_FAD-binding domain "superfamily_FAD-binding domain,HMMPfam_FAD_binding_4,superfamily_FAD-linked oxidases C-terminal domain,HMMPfam_FAD-oxidase_C" - no_errors PDE11A 50940 broad.mit.edu 36 2 178478154 178478154 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 178478154 178478154 G T SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed missense c.1078 p.Q360K 1 "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065" "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors RBM45 129831 broad.mit.edu 36 2 178691042 178691042 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 178691042 178691042 C T SNP RBM45 NM_152945 human genbank 54_36p 1 provisional silent c.438 p.I146 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD" - no_errors FKBP7 51661 broad.mit.edu 36 2 179051426 179051426 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 179051426 179051426 T A SNP FKBP7 NM_181342 human genbank 54_36p -1 reviewed missense c.47 p.Y16F 0 NULL "superfamily_FKBP-like,HMMPfam_FKBP_C,superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors CCDC141 285025 broad.mit.edu 36 2 179409843 179409843 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179409843 179409843 G A SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.2623 p.P875S 0.01 NULL HMMPfam_I-set - no_errors CCDC141 285025 broad.mit.edu 36 2 179410662 179410662 + Silent SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179410662 179410662 G A SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional silent c.1804 p.L602 0 NULL HMMPfam_I-set - no_errors CCDC141 285025 broad.mit.edu 36 2 179410667 179410667 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179410667 179410667 T G SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.1799 p.E600A 0.01 NULL HMMPfam_I-set - no_errors CCDC141 285025 broad.mit.edu 36 2 179441034 179441034 + Silent SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179441034 179441034 G T SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional silent c.813 p.S271 0.2 NULL HMMPfam_I-set - no_errors SESTD1 91404 broad.mit.edu 36 2 179716695 179716695 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179716695 179716695 C T SNP SESTD1 NM_178123 human genbank 54_36p -1 validated missense c.718 p.E240K 1 NULL "superfamily_Spectrin,HMMSmart_SPEC" - no_errors ZNF385B 151126 broad.mit.edu 36 2 180117812 180117812 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 180117812 180117812 G C SNP ZNF385B NM_152520 human genbank 54_36p -1 validated missense c.383 p.P128R 1 NULL "HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors ITGA4 3676 broad.mit.edu 36 2 182058900 182058900 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 182058900 182058900 A T SNP ITGA4 NM_000885 human genbank 54_36p 1 reviewed missense c.1089 p.K363N 1 superfamily_Integrin alpha N-terminal domain "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors CERKL 375298 broad.mit.edu 36 2 182112074 182112074 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 182112074 182112074 C T SNP CERKL NM_201548 human genbank 54_36p -1 validated missense c.1528 p.V510I 1 NULL HMMPfam_DAGK_cat - no_errors CERKL 375298 broad.mit.edu 36 2 182131603 182131603 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 182131603 182131603 C G SNP CERKL NM_201548 human genbank 54_36p -1 validated missense c.755 p.G252A 1 HMMPfam_DAGK_cat HMMPfam_DAGK_cat - no_errors NEUROD1 4760 broad.mit.edu 36 2 182251348 182251348 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 182251348 182251348 C G SNP NEUROD1 NM_002500 human genbank 54_36p -1 reviewed missense c.485 p.S162T 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors NCKAP1 10787 broad.mit.edu 36 2 183498760 183498760 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 183498760 183498760 T C SNP NCKAP1 NM_205842 human genbank 54_36p -1 validated missense c.3320 p.D1107G 1 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors ZNF804A 91752 broad.mit.edu 36 2 185508769 185508769 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 185508769 185508769 G A SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional missense c.401 p.G134D 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF804A 91752 broad.mit.edu 36 2 185509004 185509004 + Silent SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 185509004 185509004 C A SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional silent c.636 p.I212 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF804A 91752 broad.mit.edu 36 2 185509018 185509018 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 185509018 185509018 C A SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional missense c.650 p.A217E 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF804A 91752 broad.mit.edu 36 2 185510677 185510677 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 185510677 185510677 G A SNP ZNF804A NM_194250 human genbank 54_36p 1 provisional missense c.2309 p.R770Q 0.71 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ITGAV 3685 broad.mit.edu 36 2 187214440 187214440 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 187214440 187214440 G C SNP ITGAV NM_002210 human genbank 54_36p 1 reviewed missense c.1039 p.V347L 0.32 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ITGAV 3685 broad.mit.edu 36 2 187225058 187225058 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 187225058 187225058 C A SNP ITGAV NM_002210 human genbank 54_36p 1 reviewed missense c.1502 p.S501Y 1 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_SM00191,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_Integrin domains,superfamily_Integrin alpha N-terminal domain" - no_errors ZSWIM2 151112 broad.mit.edu 36 2 187401221 187401221 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 187401221 187401221 T C SNP ZSWIM2 NM_182521 human genbank 54_36p -1 validated missense c.1637 p.K546R 0.02 NULL "HMMPfam_SWIM,superfamily_SSF57850,HMMSmart_RING,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_zf-C3HC4" - no_errors ZSWIM2 151112 broad.mit.edu 36 2 187421961 187421961 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 187421961 187421961 C A SNP ZSWIM2 NM_182521 human genbank 54_36p -1 validated nonsense c.142 p.E48* 0.73 NULL "HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMSmart_RING,HMMPfam_SWIM,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors CALCRL 10203 broad.mit.edu 36 2 187925271 187925271 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 187925271 187925271 C T SNP CALCRL NM_005795 human genbank 54_36p -1 validated missense c.943 p.V315I 1 HMMPfam_7tm_2 "superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors COL3A1 1281 broad.mit.edu 36 2 189563104 189563104 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 189563104 189563104 G A SNP COL3A1 NM_000090 human genbank 54_36p 1 reviewed missense c.728 p.G243E 1 HMMPfam_Collagen "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL3A1 1281 broad.mit.edu 36 2 189583827 189583827 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 189583827 189583827 A G SNP COL3A1 NM_000090 human genbank 54_36p 1 reviewed missense c.4220 p.K1407R 1 "HMMPfam_COLFI,HMMSmart_SM00038" "HMMPfam_COLFI,HMMSmart_SM00038,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen" - no_errors COL5A2 1290 broad.mit.edu 36 2 189612490 189612490 + Silent SNP A A C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 189612490 189612490 A C SNP COL5A2 NM_000393 human genbank 54_36p -1 reviewed silent c.3678 p.P1226 1 HMMPfam_Collagen "HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI" - no_errors COL5A2 1290 broad.mit.edu 36 2 189635838 189635838 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 189635838 189635838 G A SNP COL5A2 NM_000393 human genbank 54_36p -1 reviewed missense c.1975 p.P659S 0.99 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_COLFI,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen" - no_errors WDR75 84128 broad.mit.edu 36 2 190047719 190047719 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 190047719 190047719 C G SNP WDR75 NM_032168 human genbank 54_36p 1 provisional missense c.2228 p.S743C 1 NULL "PatternScan_WD_REPEATS_1,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40" - no_errors SLC40A1 30061 broad.mit.edu 36 2 190138503 190138503 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 190138503 190138503 C G SNP SLC40A1 NM_014585 human genbank 54_36p -1 reviewed missense c.582 p.Q194H 1 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_FPN1" - no_errors PMS1 5378 broad.mit.edu 36 2 190436884 190436884 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 190436884 190436884 C G SNP PMS1 NM_000534 human genbank 54_36p 1 reviewed missense c.2027 p.P676R 1 NULL "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors MFSD6 54842 broad.mit.edu 36 2 191009653 191009653 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 191009653 191009653 C G SNP MFSD6 NM_017694 human genbank 54_36p 1 validated missense c.653 p.P218R 0 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors MYO1B 4430 broad.mit.edu 36 2 191969465 191969465 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 191969465 191969465 G C SNP MYO1B NM_012223 human genbank 54_36p 1 validated missense c.2292 p.W764C 1 "HMMPfam_IQ,HMMSmart_IQ,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_TH1,superfamily_SSF52540" - no_errors DNAH7 56171 broad.mit.edu 36 2 196369690 196369690 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 196369690 196369690 T A SNP DNAH7 NM_018897 human genbank 54_36p -1 validated missense c.10370 p.K3457I 0.92 "HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT" "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT" - no_errors DNAH7 56171 broad.mit.edu 36 2 196448711 196448711 + Silent SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 196448711 196448711 A G SNP DNAH7 NM_018897 human genbank 54_36p -1 validated silent c.6219 p.Y2073 1 "HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_ADH_SHORT,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N2,PatternScan_EF_HAND_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HECW2 57520 broad.mit.edu 36 2 196892764 196892764 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 196892764 196892764 C G SNP HECW2 NM_020760 human genbank 54_36p -1 provisional missense c.1095 p.Q365H 0 NULL "HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors GTF3C3 9330 broad.mit.edu 36 2 197348106 197348106 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 197348106 197348106 A G SNP GTF3C3 NM_012086 human genbank 54_36p -1 provisional missense c.1810 p.S604P 0.91 superfamily_TPR-like "HMMSmart_SM00028,superfamily_Protein prenylyltransferase,HMMPfam_TPR_2,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors GTF3C3 9330 broad.mit.edu 36 2 197372488 197372488 + Silent SNP G G C novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 197372488 197372488 G C SNP GTF3C3 NM_012086 human genbank 54_36p -1 provisional silent c.93 p.R31 1 NULL "HMMPfam_TPR_1,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_Protein prenylyltransferase,superfamily_TPR-like" - no_errors C2orf66 401027 broad.mit.edu 36 2 197380523 197380523 + Silent SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 197380523 197380523 G A SNP C2orf66 NM_213608 human genbank 54_36p -1 predicted silent c.243 p.F81 0.96 NULL NULL - no_errors PGAP1 80055 broad.mit.edu 36 2 197420956 197420956 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 197420956 197420956 T C SNP PGAP1 NM_024989 human genbank 54_36p -1 validated missense c.1912 p.K638E 1 NULL "HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases" - no_errors ANKRD44 91526 broad.mit.edu 36 2 197586552 197586552 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 197586552 197586552 C G SNP ANKRD44 NM_153697 human genbank 54_36p -1 provisional missense c.1777 p.A593P 0.91 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD44 91526 broad.mit.edu 36 2 197659661 197659661 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 197659661 197659661 T A SNP ANKRD44 NM_153697 human genbank 54_36p -1 provisional missense c.1229 p.D410V 1 "HMMPfam_Ank,superfamily_ANK" "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors SF3B1 23451 broad.mit.edu 36 2 197966064 197966064 + Silent SNP C C T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 197966064 197966064 C T SNP SF3B1 NM_012433 human genbank 54_36p -1 reviewed silent c.3633 p.L1211 1 superfamily_ARM repeat "HMMPfam_SF3b1,superfamily_ARM repeat,HMMPfam_HEAT" - no_errors MOBKL3 25843 broad.mit.edu 36 2 198089100 198089100 + Silent SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 198089100 198089100 G A SNP MOBKL3 NM_015387 human genbank 54_36p 1 reviewed silent c.45 p.P15 1 NULL "HMMPfam_Mob1_phocein,superfamily_Mob1/phocein" - no_errors MARS2 92935 broad.mit.edu 36 2 198279265 198279265 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 198279265 198279265 C G SNP MARS2 NM_138395 human genbank 54_36p 1 validated missense c.891 p.F297L 0.14 "superfamily_SSF52374,HMMPfam_tRNA-synt_1g" "PatternScan_AA_TRNA_LIGASE_I,superfamily_SSF52374,HMMPfam_tRNA-synt_1g,superfamily_tRNAsyn_1a_bind" - no_errors MARS2 92935 broad.mit.edu 36 2 198279444 198279444 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 198279444 198279444 A C SNP MARS2 NM_138395 human genbank 54_36p 1 validated missense c.1070 p.D357A 1 "HMMPfam_tRNA-synt_1g,superfamily_SSF52374" "PatternScan_AA_TRNA_LIGASE_I,superfamily_tRNAsyn_1a_bind,HMMPfam_tRNA-synt_1g,superfamily_SSF52374" - no_errors MARS2 92935 broad.mit.edu 36 2 198279841 198279841 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 198279841 198279841 G T SNP MARS2 NM_138395 human genbank 54_36p 1 validated missense c.1467 p.R489S 1 superfamily_tRNAsyn_1a_bind "PatternScan_AA_TRNA_LIGASE_I,superfamily_tRNAsyn_1a_bind,HMMPfam_tRNA-synt_1g,superfamily_SSF52374" - no_errors BOLL 66037 broad.mit.edu 36 2 198348711 198348711 + Splice_Site SNP T T G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 198348711 198348711 T G SNP BOLL NM_197970 human genbank 54_36p -1 validated splice_site c.313-2 e5-2 1 - - - no_errors PLCL1 5334 broad.mit.edu 36 2 198658277 198658277 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 198658277 198658277 C T SNP PLCL1 NM_006226 human genbank 54_36p 1 provisional silent c.1497 p.Y499 1 "superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SPATS2L 26010 broad.mit.edu 36 2 201050854 201050854 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 201050854 201050854 G C SNP LOC26010 NM_001100422 human genbank 54_36p 1 validated missense c.1532 p.R511T 1 NULL HMMPfam_DUF1387 - no_errors KCTD18 130535 broad.mit.edu 36 2 201079890 201079890 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 201079890 201079890 C A SNP KCTD18 NM_152387 human genbank 54_36p -1 validated missense c.95 p.R32L 1 "superfamily_POZ domain,HMMPfam_K_tetra" "superfamily_POZ domain,HMMPfam_K_tetra" - no_errors SGOL2 151246 broad.mit.edu 36 2 201145883 201145883 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 201145883 201145883 C G SNP SGOL2 NM_152524 human genbank 54_36p 1 provisional missense c.2569 p.Q857E 0 NULL HMMPfam_Shugoshin_N - no_errors SGOL2 151246 broad.mit.edu 36 2 201146632 201146632 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 201146632 201146632 G T SNP SGOL2 NM_152524 human genbank 54_36p 1 provisional missense c.3318 p.K1106N 0 NULL HMMPfam_Shugoshin_N - no_errors AOX1 316 broad.mit.edu 36 2 201235890 201235890 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 201235890 201235890 G A SNP AOX1 NM_001159 human genbank 54_36p 1 reviewed missense c.3496 p.A1166T 1 "superfamily_Molybdenum cofactor-binding domain,HMMPfam_Ald_Xan_dh_C2" ############################################################################################################################################################################################################################################################### - no_errors CLK1 1195 broad.mit.edu 36 2 201430821 201430821 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 201430821 201430821 G T SNP CLK1 NM_004071 human genbank 54_36p -1 reviewed missense c.697 p.H233N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ALS2CR12 130540 broad.mit.edu 36 2 201917201 201917201 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 201917201 201917201 T G SNP ALS2CR12 NM_139163 human genbank 54_36p -1 validated missense c.399 p.Q133H 0.95 NULL NULL - no_errors ALS2CR12 130540 broad.mit.edu 36 2 201917226 201917226 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 201917226 201917226 T A SNP ALS2CR12 NM_139163 human genbank 54_36p -1 validated missense c.374 p.N125I 0.38 NULL NULL - no_errors TRAK2 66008 broad.mit.edu 36 2 201953923 201953923 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 201953923 201953923 G A SNP TRAK2 NM_015049 human genbank 54_36p -1 validated missense c.2333 p.P778L 1 NULL HMMPfam_HAP1_N - no_errors MPP4 58538 broad.mit.edu 36 2 202248210 202248210 + Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 202248210 202248210 G A SNP MPP4 NM_033066 human genbank 54_36p -1 reviewed missense c.959 p.P320L 1 superfamily_SH3-domain ############################################################################################################################################################################################################################################################### - no_errors ALS2 57679 broad.mit.edu 36 2 202306340 202306340 + Silent SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 202306340 202306340 C T SNP ALS2 NM_020919 human genbank 54_36p -1 reviewed silent c.2484 p.Q828 0.06 superfamily_DBL homology domain (DH-domain) ############################################################################################################################################################################################################################################################### - no_errors FZD7 8324 broad.mit.edu 36 2 202608783 202608783 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 202608783 202608783 G A SNP FZD7 NM_003507 human genbank 54_36p 1 reviewed missense c.1168 p.A390T 1 HMMPfam_Frizzled "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled" - no_errors BMPR2 659 broad.mit.edu 36 2 203129284 203129284 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 203129284 203129284 T C SNP BMPR2 NM_001204 human genbank 54_36p 1 reviewed missense c.2651 p.L884P 1 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_SSF57302,HMMPfam_Activin_recp,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors NBEAL1 65065 broad.mit.edu 36 2 203709031 203709031 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 203709031 203709031 G C SNP NBEAL1 NM_001099273 human genbank 54_36p 1 validated missense c.243 p.L81F 1 NULL "superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors CYP20A1 57404 broad.mit.edu 36 2 203851653 203851653 + Silent SNP A A G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 203851653 203851653 A G SNP CYP20A1 NM_177538 human genbank 54_36p 1 reviewed silent c.792 p.Q264 0.99 superfamily_Cytochrome_P450 "superfamily_Cytochrome_P450,HMMPfam_p450" - no_errors RAPH1 65059 broad.mit.edu 36 2 204013183 204013183 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 2 204013183 204013183 G A SNP RAPH1 NM_213589 human genbank 54_36p -1 validated missense c.2975 p.P992L 1 NULL "HMMSmart_SM00314,HMMPfam_RA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors RAPH1 65059 broad.mit.edu 36 2 204014379 204014379 + Silent SNP G G T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 204014379 204014379 G T SNP RAPH1 NM_213589 human genbank 54_36p -1 validated silent c.1779 p.A593 1 NULL "HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors PARD3B 117583 broad.mit.edu 36 2 206188590 206188590 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 206188590 206188590 C G SNP PARD3B NM_152526 human genbank 54_36p 1 validated missense c.3240 p.H1080Q 1 NULL "superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors NRP2 8828 broad.mit.edu 36 2 206300889 206300889 + Silent SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 206300889 206300889 G A SNP NRP2 NM_201266 human genbank 54_36p 1 reviewed silent c.1020 p.T340 0.92 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM" - no_errors INO80D 54891 broad.mit.edu 36 2 206577423 206577423 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 206577423 206577423 T C SNP INO80D NM_017759 human genbank 54_36p -1 validated missense c.2998 p.I1000V 1 NULL NULL - no_errors INO80D 54891 broad.mit.edu 36 2 206577799 206577799 + Silent SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 206577799 206577799 G T SNP INO80D NM_017759 human genbank 54_36p -1 validated silent c.2622 p.T874 0.91 NULL NULL - no_errors INO80D 54891 broad.mit.edu 36 2 206635892 206635892 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 206635892 206635892 C T SNP INO80D NM_017759 human genbank 54_36p -1 validated missense c.94 p.G32S 1 NULL NULL - no_errors ZDBF2 57683 broad.mit.edu 36 2 206878193 206878193 + Silent SNP T T C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 206878193 206878193 T C SNP ZDBF2 NM_020923 human genbank 54_36p 1 validated silent c.696 p.D232 0 NULL HMMPfam_zf-DBF - no_errors ZDBF2 57683 broad.mit.edu 36 2 206880751 206880751 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 206880751 206880751 A G SNP ZDBF2 NM_020923 human genbank 54_36p 1 validated missense c.3254 p.E1085G 0 NULL HMMPfam_zf-DBF - no_errors ADAM23 8745 broad.mit.edu 36 2 207146159 207146159 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 207146159 207146159 G A SNP ADAM23 NM_003812 human genbank 54_36p 1 reviewed missense c.1732 p.G578S 1 "HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin)" "HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors DYTN 391475 broad.mit.edu 36 2 207224851 207224851 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 207224851 207224851 G A SNP DYTN NM_001093730 human genbank 54_36p -1 provisional missense c.1673 p.A558V 0.5 NULL "HMMPfam_efhand_1,superfamily_SSF47473,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1" - no_errors MDH1B 130752 broad.mit.edu 36 2 207322086 207322086 + Silent SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 207322086 207322086 T C SNP MDH1B NM_001039845 human genbank 54_36p -1 validated silent c.1119 p.G373 0.75 superfamily_LDH C-terminal domain-like "superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_LDH C-terminal domain-like" - no_errors MDH1B 130752 broad.mit.edu 36 2 207328020 207328021 + Missense_Mutation DNP CT CT TA novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 207328020 207328021 CT TA DNP MDH1B NM_001039845 human genbank 54_36p -1 validated missense c.868_867 p.EA289DT 1.000:0.993 NULL "superfamily_LDH C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors MDH1B 130752 broad.mit.edu 36 2 207330303 207330303 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 207330303 207330303 C G SNP MDH1B NM_001039845 human genbank 54_36p -1 validated missense c.173 p.S58T 0.9 NULL "superfamily_LDH C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors FASTKD2 22868 broad.mit.edu 36 2 207344916 207344916 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 207344916 207344916 G A SNP FASTKD2 NM_014929 human genbank 54_36p 1 reviewed missense c.1044 p.M348I 1 NULL "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors FASTKD2 22868 broad.mit.edu 36 2 207344979 207344979 + Silent SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 207344979 207344979 G C SNP FASTKD2 NM_014929 human genbank 54_36p 1 reviewed silent c.1107 p.V369 0.01 NULL "HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP" - no_errors CPO 130749 broad.mit.edu 36 2 207512599 207512599 + Silent SNP T T C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 207512599 207512599 T C SNP CPO NM_173077 human genbank 54_36p 1 validated silent c.31 p.L11 0.47 NULL "PatternScan_CARBOXYPEPT_ZN_2,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1" - no_errors FZD5 7855 broad.mit.edu 36 2 208340364 208340364 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 208340364 208340364 G A SNP FZD5 NM_003468 human genbank 54_36p -1 reviewed missense c.1345 p.R449C 1 HMMPfam_Frizzled "HMMPfam_Fz,superfamily_Frizzled_Cys-rich,HMMSmart_FRI,HMMPfam_Frizzled" - no_errors FZD5 7855 broad.mit.edu 36 2 208340499 208340499 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 208340499 208340499 C A SNP FZD5 NM_003468 human genbank 54_36p -1 reviewed missense c.1210 p.V404L 1 HMMPfam_Frizzled "superfamily_Frizzled_Cys-rich,HMMPfam_Frizzled,HMMPfam_Fz,HMMSmart_FRI" - no_errors PLEKHM3 389072 broad.mit.edu 36 2 208550482 208550482 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 208550482 208550482 C T SNP PLEKHM3 NM_001080475 human genbank 54_36p -1 validated nonsense c.684 p.W228* 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PIKFYVE 200576 broad.mit.edu 36 2 208903598 208903598 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 208903598 208903598 G A SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated missense c.3898 p.D1300N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PIKFYVE 200576 broad.mit.edu 36 2 208908841 208908841 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 208908841 208908841 A T SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated nonsense c.4336 p.K1446* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PIKFYVE 200576 broad.mit.edu 36 2 208926972 208926972 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 208926972 208926972 C T SNP PIP5K3 NM_015040 human genbank 54_36p 1 validated nonsense c.5950 p.R1984* 1 "HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like" ############################################################################################################################################################################################################################################################### - no_errors PTH2R 5746 broad.mit.edu 36 2 209066555 209066555 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 209066555 209066555 G C SNP PTH2R NM_005048 human genbank 54_36p 1 reviewed missense c.1579 p.E527Q 0 NULL "superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors MAP2 4133 broad.mit.edu 36 2 210226198 210226198 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 210226198 210226198 C A SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.59 p.T20K 0.84 NULL "HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP" - no_errors MAP2 4133 broad.mit.edu 36 2 210226239 210226239 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 210226239 210226239 C A SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.100 p.Q34K 1 NULL "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210226373 210226373 + Silent SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 210226373 210226373 G A SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed silent c.234 p.E78 1 NULL "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210267400 210267400 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 210267400 210267400 A G SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.2261 p.E754G 1 HMMPfam_MAP2_projctn "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210267648 210267648 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 210267648 210267648 G C SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.2509 p.E837Q 0.84 HMMPfam_MAP2_projctn "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210268820 210268820 + Silent SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 210268820 210268820 T A SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed silent c.3681 p.S1227 0 HMMPfam_MAP2_projctn "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210269925 210269925 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 210269925 210269925 T C SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.4427 p.V1476A 1 HMMPfam_MAP2_projctn "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210278593 210278593 + Silent SNP A A G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 210278593 210278593 A G SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed silent c.4629 p.R1543 1 NULL "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors MAP2 4133 broad.mit.edu 36 2 210283183 210283183 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 210283183 210283183 G C SNP MAP2 NM_002374 human genbank 54_36p 1 reviewed missense c.5033 p.G1678A 1 HMMPfam_Tubulin-binding "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1" - no_errors UNC80 285175 broad.mit.edu 36 2 210362534 210362534 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 210362534 210362534 G A SNP C2orf21 NM_182587 human genbank 54_36p 1 validated missense c.758 p.R253Q 1 NULL NULL - no_errors C2orf67 151050 broad.mit.edu 36 2 210597005 210597005 + Silent SNP G G C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 210597005 210597005 G C SNP C2orf67 NM_152519 human genbank 54_36p -1 validated silent c.2730 p.T910 0.93 NULL NULL - no_errors C2orf67 151050 broad.mit.edu 36 2 210601925 210601925 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 210601925 210601925 C T SNP C2orf67 NM_152519 human genbank 54_36p -1 validated missense c.2285 p.R762Q 1 NULL NULL - no_errors C2orf67 151050 broad.mit.edu 36 2 210648569 210648569 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 210648569 210648569 G C SNP C2orf67 NM_152519 human genbank 54_36p -1 validated missense c.1707 p.H569Q 1 NULL NULL - no_errors CPS1 1373 broad.mit.edu 36 2 211164907 211164907 + Frame_Shift_Del DEL T - T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 211164907 211164907 T - DEL CPS1 NM_001875 human genbank 54_36p 1 reviewed frame_shift_del c.1055 p.F353fs 1 "superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[211164800,211164938])" no_errors CPS1 1373 broad.mit.edu 36 2 211175180 211175180 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 211175180 211175180 G T SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed missense c.1717 p.A573S 1 "HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors ABCA12 26154 broad.mit.edu 36 2 215515967 215515967 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 215515967 215515967 G C SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.7363 p.L2455V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA12 26154 broad.mit.edu 36 2 215551883 215551883 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 215551883 215551883 A G SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.4867 p.F1623L 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA12 26154 broad.mit.edu 36 2 215553475 215553475 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 215553475 215553475 G A SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.4717 p.H1573Y 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA12 26154 broad.mit.edu 36 2 215560750 215560750 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 215560750 215560750 A G SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.3842 p.M1281T 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ATIC 471 broad.mit.edu 36 2 215885547 215885547 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 215885547 215885547 C T SNP ATIC NM_004044 human genbank 54_36p 1 validated missense c.101 p.S34F 0.98 "superfamily_SSF52335,HMMPfam_MGS" "superfamily_SSF52335,HMMPfam_MGS,HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly" - no_errors FN1 2335 broad.mit.edu 36 2 215943354 215943354 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 215943354 215943354 G C SNP FN1 NM_212482 human genbank 54_36p -1 reviewed missense c.6761 p.T2254S 1 "HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3" ############################################################################################################################################################################################################################################################### - no_errors TMEM169 92691 broad.mit.edu 36 2 216669098 216669098 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 216669098 216669098 G A SNP TMEM169 NM_138390 human genbank 54_36p 1 validated missense c.167 p.R56H 1 NULL NULL - no_errors MARCH4 57574 broad.mit.edu 36 2 216850783 216850783 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 216850783 216850783 G C SNP MARCH4 NM_020814 human genbank 54_36p -1 validated missense c.722 p.A241G 1 NULL "HMMSmart_RINGv,HMMPfam_zf-C3HC4" - no_errors SMARCAL1 50485 broad.mit.edu 36 2 217040996 217040996 + Silent SNP G G A rs2271335 by-hapmap TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 217040996 217040996 G A SNP SMARCAL1 NM_014140 human genbank 54_36p 1 reviewed silent c.2226 p.T742 0 "superfamily_SSF52540,HMMSmart_HELICc" "HMMPfam_HARP,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors TNS1 7145 broad.mit.edu 36 2 218386664 218386664 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 218386664 218386664 T C SNP TNS1 NM_022648 human genbank 54_36p -1 reviewed missense c.4538 p.Q1513R 1 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "superfamily_SSF52799,HMMPfam_PTEN_C2,superfamily_C2_CaLB,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PTB" - no_errors PNKD 25953 broad.mit.edu 36 2 218916522 218916522 + Silent SNP G G T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 218916522 218916522 G T SNP PNKD NM_015488 human genbank 54_36p 1 validated silent c.837 p.L279 0.92 "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B" "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B" - no_errors SLC11A1 6556 broad.mit.edu 36 2 218966068 218966068 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 218966068 218966068 G A SNP SLC11A1 NM_000578 human genbank 54_36p 1 reviewed missense c.1285 p.D429N 1 HMMPfam_Nramp HMMPfam_Nramp - no_errors VIL1 7429 broad.mit.edu 36 2 219002836 219002836 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 219002836 219002836 G A SNP VIL1 NM_007127 human genbank 54_36p 1 reviewed silent c.870 p.Q290 0.99 "superfamily_SSF82754,HMMSmart_GEL,HMMPfam_Gelsolin" "superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF82754,superfamily_VHP,HMMPfam_VHP,HMMSmart_VHP" - no_errors USP37 57695 broad.mit.edu 36 2 219032778 219032778 + Silent SNP C C T rs71415835 Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219032778 219032778 C T SNP USP37 NM_020935 human genbank 54_36p -1 validated silent c.2622 p.E874 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,HMMSmart_SM00726,HMMPfam_UIM,PatternScan_UCH_2_2" - no_errors USP37 57695 broad.mit.edu 36 2 219107665 219107665 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 219107665 219107665 T A SNP USP37 NM_020935 human genbank 54_36p -1 validated missense c.689 p.K230M 1 NULL "HMMPfam_UCH,HMMPfam_UIM,HMMSmart_SM00726,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors RQCD1 9125 broad.mit.edu 36 2 219155997 219155997 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219155997 219155997 C A SNP RQCD1 NM_005444 human genbank 54_36p 1 provisional missense c.264 p.N88K 1 "superfamily_ARM repeat,HMMPfam_Rcd1" "superfamily_ARM repeat,HMMPfam_Rcd1" - no_errors PLCD4 84812 broad.mit.edu 36 2 219206695 219206695 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 219206695 219206695 G A SNP PLCD4 NM_032726 human genbank 54_36p 1 provisional missense c.1573 p.E525K 1 "superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149" ############################################################################################################################################################################################################################################################### - no_errors ZNF142 7701 broad.mit.edu 36 2 219217803 219217803 + Silent SNP C C G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219217803 219217803 C G SNP ZNF142 NM_001105537 human genbank 54_36p -1 validated silent c.1680 p.L560 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF142 7701 broad.mit.edu 36 2 219222123 219222123 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 219222123 219222123 T C SNP ZNF142 NM_001105537 human genbank 54_36p -1 validated missense c.752 p.D251G 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors STK36 27148 broad.mit.edu 36 2 219267522 219267522 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 219267522 219267522 G T SNP STK36 NM_015690 human genbank 54_36p 1 validated missense c.2431 p.G811C 0.99 superfamily_ARM repeat "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM repeat,HMMPfam_HEAT" - no_errors TTLL4 9654 broad.mit.edu 36 2 219311967 219311967 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219311967 219311967 G T SNP TTLL4 NM_014640 human genbank 54_36p 1 validated missense c.1324 p.D442Y 0 NULL "HMMPfam_TTL,superfamily_SSF56059" - no_errors TTLL4 9654 broad.mit.edu 36 2 219324711 219324711 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219324711 219324711 G A SNP TTLL4 NM_014640 human genbank 54_36p 1 validated missense c.2914 p.E972K 0.05 NULL "HMMPfam_TTL,superfamily_SSF56059" - no_errors TTLL4 9654 broad.mit.edu 36 2 219325777 219325777 + Silent SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 219325777 219325777 G T SNP TTLL4 NM_014640 human genbank 54_36p 1 validated silent c.3024 p.R1008 0.97 NULL "HMMPfam_TTL,superfamily_SSF56059" - no_errors CYP27A1 1593 broad.mit.edu 36 2 219385950 219385950 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 219385950 219385950 C T SNP CYP27A1 NM_000784 human genbank 54_36p 1 reviewed missense c.904 p.P302S 0.36 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors PRKAG3 53632 broad.mit.edu 36 2 219400225 219400225 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219400225 219400225 G C SNP PRKAG3 NM_017431 human genbank 54_36p -1 reviewed missense c.991 p.L331V 1 "HMMPfam_CBS,superfamily_CBS-domain,HMMSmart_SM00116" "superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116" - no_errors WNT6 7475 broad.mit.edu 36 2 219444537 219444537 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219444537 219444537 C A SNP WNT6 NM_006522 human genbank 54_36p 1 reviewed missense c.388 p.L130M 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT6 7475 broad.mit.edu 36 2 219446779 219446779 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219446779 219446779 C T SNP WNT6 NM_006522 human genbank 54_36p 1 reviewed missense c.1066 p.R356C 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors FAM134A 79137 broad.mit.edu 36 2 219753079 219753079 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219753079 219753079 G C SNP FAM134A NM_024293 human genbank 54_36p 1 validated missense c.423 p.E141D 1 NULL NULL - no_errors ABCB6 10058 broad.mit.edu 36 2 219791287 219791287 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 219791287 219791287 C G SNP ABCB6 NM_005689 human genbank 54_36p -1 reviewed missense c.353 p.G118A 0.66 NULL "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ANKZF1 55139 broad.mit.edu 36 2 219806811 219806811 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219806811 219806811 G T SNP ANKZF1 NM_001042410 human genbank 54_36p 1 validated missense c.950 p.G317V 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKZF1 55139 broad.mit.edu 36 2 219808085 219808085 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 219808085 219808085 G C SNP ANKZF1 NM_001042410 human genbank 54_36p 1 validated missense c.1498 p.A500P 0.9 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors GLB1L 79411 broad.mit.edu 36 2 219811305 219811305 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 219811305 219811305 T G SNP GLB1L NM_024506 human genbank 54_36p -1 provisional missense c.1252 p.T418P 1 NULL "HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases" - no_errors PTPRN 5798 broad.mit.edu 36 2 219874666 219874666 + Silent SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 219874666 219874666 C A SNP PTPRN NM_002846 human genbank 54_36p -1 reviewed silent c.1014 p.L338 0.9 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors ACCN4 55515 broad.mit.edu 36 2 220111012 220111012 + Nonstop_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 220111012 220111012 G T SNP ACCN4 NM_018674 human genbank 54_36p 1 reviewed nonstop c.2001 p.*667Y 0.99 NULL "HMMPfam_ASC,PatternScan_ASC" - no_errors CHPF 79586 broad.mit.edu 36 2 220113991 220113992 + Missense_Mutation DNP GG GG AT novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 220113991 220113992 GG AT DNP CHPF NM_024536 human genbank 54_36p -1 validated missense c.989_988 p.P330I 1.000:1.000 HMMPfam_CHGN HMMPfam_CHGN - no_errors TMEM198 130612 broad.mit.edu 36 2 220120642 220120642 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 220120642 220120642 G T SNP TMEM198 NM_001005209 human genbank 54_36p 1 provisional missense c.337 p.V113L 1 NULL NULL - no_errors OBSL1 23363 broad.mit.edu 36 2 220129621 220129621 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 220129621 220129621 A C SNP OBSL1 NM_015311 human genbank 54_36p -1 provisional missense c.4135 p.F1379V 1 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,HMMPfam_fn3,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_V-set" - no_errors SLC4A3 6508 broad.mit.edu 36 2 220205295 220205295 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 220205295 220205295 G A SNP SLC4A3 NM_201574 human genbank 54_36p 1 validated missense c.1109 p.R370H 1 superfamily_Phoshotransferase/anion transport protein "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2" - no_errors PAX3 5077 broad.mit.edu 36 2 222793186 222793186 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 222793186 222793186 A C SNP PAX3 NM_181459 human genbank 54_36p -1 reviewed missense c.1090 p.S364A 1 NULL "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PAX3 5077 broad.mit.edu 36 2 222866714 222866714 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 222866714 222866714 G T SNP PAX3 NM_013942 human genbank 54_36p -1 reviewed missense c.593 p.A198D 0.56 NULL "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1" - no_errors PAX3 5077 broad.mit.edu 36 2 222868567 222868567 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 222868567 222868567 G C SNP PAX3 NM_181459 human genbank 54_36p -1 reviewed missense c.375 p.N125K 1 "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors SGPP2 130367 broad.mit.edu 36 2 223047552 223047552 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 223047552 223047552 G A SNP SGPP2 NM_152386 human genbank 54_36p 1 provisional missense c.241 p.V81M 1 NULL "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors FARSB 10056 broad.mit.edu 36 2 223173002 223173002 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 223173002 223173002 T G SNP FARSB NM_005687 human genbank 54_36p -1 reviewed missense c.1507 p.N503H 1 superfamily_Class II aaRS and biotin synthetases "superfamily_Putative DNA-binding domain,HMMPfam_B3_4,superfamily_B3/B4 domain of PheRS PheT,HMMPfam_B5,superfamily_Class II aaRS and biotin synthetases" - no_errors ACSL3 2181 broad.mit.edu 36 2 223494251 223494251 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 223494251 223494251 C A SNP ACSL3 NM_004457 human genbank 54_36p 1 reviewed missense c.815 p.P272H 0 "superfamily_SSF56801,HMMPfam_AMP-binding" "superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ACSL3 2181 broad.mit.edu 36 2 223507617 223507617 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 223507617 223507617 T C SNP ACSL3 NM_004457 human genbank 54_36p 1 reviewed missense c.1973 p.V658A 1 superfamily_SSF56801 "HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801" - no_errors KCNE4 23704 broad.mit.edu 36 2 223625895 223625895 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 223625895 223625895 G A SNP KCNE4 NM_080671 human genbank 54_36p 1 validated missense c.103 p.E35K 1 HMMPfam_ISK_Channel HMMPfam_ISK_Channel - no_errors SCG2 7857 broad.mit.edu 36 2 224170895 224170895 + Silent SNP C C T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 224170895 224170895 C T SNP SCG2 NM_003469 human genbank 54_36p -1 reviewed silent c.1350 p.T450 0 HMMPfam_Granin "HMMPfam_Granin,PatternScan_GRANINS_1" - no_errors FAM124B 79843 broad.mit.edu 36 2 224974366 224974366 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 224974366 224974366 G A SNP FAM124B NM_024785 human genbank 54_36p -1 validated nonsense c.364 p.Q122* 0.97 NULL NULL - no_errors CUL3 8452 broad.mit.edu 36 2 225108593 225108593 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 225108593 225108593 C G SNP CUL3 NM_003590 human genbank 54_36p -1 validated missense c.274 p.D92H 1 "superfamily_Cullin repeat,HMMPfam_Cullin" "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_Winged helix DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors DOCK10 55619 broad.mit.edu 36 2 225347989 225347989 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 225347989 225347989 G A SNP DOCK10 NM_014689 human genbank 54_36p -1 validated missense c.5890 p.R1964W 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto" - no_errors IRS1 3667 broad.mit.edu 36 2 227368238 227368238 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 227368238 227368238 C A SNP IRS1 NM_005544 human genbank 54_36p -1 validated missense c.3461 p.G1154V 0.54 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors IRS1 3667 broad.mit.edu 36 2 227371331 227371332 + Missense_Mutation DNP CC CC TT novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 227371331 227371332 CC TT DNP IRS1 NM_005544 human genbank 54_36p -1 validated missense c.368_367 p.G123K 0.043:0.105 NULL "HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729" - no_errors COL4A4 1286 broad.mit.edu 36 2 227580318 227580318 + Silent SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 227580318 227580318 G T SNP COL4A4 NM_000092 human genbank 54_36p -1 reviewed silent c.5040 p.I1680 1 "superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111" "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like" - no_errors COL4A4 1286 broad.mit.edu 36 2 227606426 227606426 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 227606426 227606426 G A SNP COL4A4 NM_000092 human genbank 54_36p -1 reviewed missense c.3521 p.P1174L 0.66 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A4 1286 broad.mit.edu 36 2 227651005 227651005 + Silent SNP T T C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 227651005 227651005 T C SNP COL4A4 NM_000092 human genbank 54_36p -1 reviewed silent c.1836 p.K612 0.18 NULL "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A3 1285 broad.mit.edu 36 2 227855409 227855409 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 227855409 227855409 C T SNP COL4A3 NM_000091 human genbank 54_36p 1 reviewed missense c.2573 p.P858L 1 NULL "HMMPfam_Collagen,PatternScan_CARBOXYPEPT_SER_SER,superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111" - no_errors SLC19A3 80704 broad.mit.edu 36 2 228272329 228272329 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 228272329 228272329 C A SNP SLC19A3 NM_025243 human genbank 54_36p -1 validated missense c.346 p.V116F 0.99 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Folate_carrier" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Folate_carrier" - no_errors SPHKAP 80309 broad.mit.edu 36 2 228563965 228563965 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 228563965 228563965 C G SNP SPHKAP NM_030623 human genbank 54_36p -1 validated missense c.4867 p.E1623Q 1 HMMPfam_AKAP_110 HMMPfam_AKAP_110 - no_errors SPHKAP 80309 broad.mit.edu 36 2 228564127 228564127 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 228564127 228564127 G T SNP SPHKAP NM_030623 human genbank 54_36p -1 validated missense c.4705 p.P1569T 0 NULL HMMPfam_AKAP_110 - no_errors SPHKAP 80309 broad.mit.edu 36 2 228589653 228589653 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 228589653 228589653 C T SNP SPHKAP NM_030623 human genbank 54_36p -1 validated silent c.4161 p.L1387 0.02 NULL HMMPfam_AKAP_110 - no_errors DNER 92737 broad.mit.edu 36 2 229939884 229939884 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 229939884 229939884 C T SNP DNER NM_139072 human genbank 54_36p -1 validated missense c.2051 p.R684H 1 NULL "superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_FOLN" - no_errors TRIP12 9320 broad.mit.edu 36 2 230366008 230366008 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 230366008 230366008 G C SNP TRIP12 NM_004238 human genbank 54_36p -1 provisional missense c.3841 p.Q1281E 1 NULL "superfamily_ARM-type_fold,HMMPfam_WWE,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors TRIP12 9320 broad.mit.edu 36 2 230391454 230391454 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230391454 230391454 A T SNP TRIP12 NM_004238 human genbank 54_36p -1 provisional missense c.1325 p.L442Q 1 superfamily_ARM-type_fold "HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WWE,superfamily_ARM-type_fold" - no_errors FBXO36 130888 broad.mit.edu 36 2 230583769 230583769 + Silent SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230583769 230583769 C A SNP FBXO36 NM_174899 human genbank 54_36p 1 validated silent c.492 p.T164 1 superfamily_F-box domain "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256" - no_errors SLC16A14 151473 broad.mit.edu 36 2 230618979 230618979 + Silent SNP G G T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230618979 230618979 G T SNP SLC16A14 NM_152527 human genbank 54_36p -1 provisional silent c.1107 p.I369 0.99 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC16A14 151473 broad.mit.edu 36 2 230632059 230632059 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230632059 230632059 A C SNP SLC16A14 NM_152527 human genbank 54_36p -1 provisional missense c.254 p.I85R 1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC16A14 151473 broad.mit.edu 36 2 230632123 230632123 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 230632123 230632123 C A SNP SLC16A14 NM_152527 human genbank 54_36p -1 provisional nonsense c.190 p.E64* 1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SP140 11262 broad.mit.edu 36 2 230798842 230798842 + Silent SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 230798842 230798842 A G SNP SP140 NM_007237 human genbank 54_36p 1 validated silent c.39 p.G13 0 NULL "HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors SP140 11262 broad.mit.edu 36 2 230818845 230818845 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230818845 230818845 A G SNP SP140 NM_007237 human genbank 54_36p 1 validated missense c.688 p.I230V 0.01 NULL "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP140 11262 broad.mit.edu 36 2 230857369 230857369 + Silent SNP T T C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230857369 230857369 T C SNP SP140 NM_007237 human genbank 54_36p 1 validated silent c.1563 p.N521 0.07 NULL "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP140 11262 broad.mit.edu 36 2 230883744 230883744 + Silent SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 230883744 230883744 G C SNP SP140 NM_007237 human genbank 54_36p 1 validated silent c.2217 p.P739 0 superfamily_FYVE/PHD zinc finger "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP100 6672 broad.mit.edu 36 2 231017272 231017272 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 231017272 231017272 G A SNP SP100 NM_001080391 human genbank 54_36p 1 validated missense c.406 p.D136N 0 HMMPfam_Sp100 "HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors SP100 6672 broad.mit.edu 36 2 231040173 231040173 + Silent SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 231040173 231040173 G A SNP SP100 NM_001080391 human genbank 54_36p 1 validated silent c.1290 p.K430 0 NULL "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP100 6672 broad.mit.edu 36 2 231077183 231077183 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 231077183 231077183 C T SNP SP100 NM_001080391 human genbank 54_36p 1 validated nonsense c.1804 p.Q602* 0 "HMMPfam_SAND,superfamily_SAND domain-like" "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP100 6672 broad.mit.edu 36 2 231114284 231114284 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 231114284 231114284 G C SNP SP100 NM_001080391 human genbank 54_36p 1 validated missense c.2356 p.V786L 0.11 "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain" "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors ITM2C 81618 broad.mit.edu 36 2 231450491 231450491 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 231450491 231450491 C A SNP ITM2C NM_030926 human genbank 54_36p 1 validated missense c.694 p.R232S 1 NULL HMMPfam_BRICHOS - no_errors ARMC9 80210 broad.mit.edu 36 2 231918008 231918008 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 231918008 231918008 G C SNP ARMC9 NM_025139 human genbank 54_36p 1 validated missense c.1956 p.R652S 0.93 NULL "HMMSmart_LisH,superfamily_ARM-type_fold" - no_errors B3GNT7 93010 broad.mit.edu 36 2 231971623 231971624 + In_Frame_Ins INS - GCG - novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 231971623 231971624 - GCG INS B3GNT7 NM_145236 human genbank 54_36p 1 provisional in_frame_ins c.949_950 p.318in_frame_insG 0.996:0.992 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors NCL 4691 broad.mit.edu 36 2 232033805 232033805 + Silent SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 232033805 232033805 A T SNP NCL NM_005381 human genbank 54_36p -1 reviewed silent c.630 p.A210 0.99 NULL "HMMPfam_FYDLN_acid,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors C2orf57 165100 broad.mit.edu 36 2 232166123 232166123 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 232166123 232166123 G T SNP C2orf57 NM_152614 human genbank 54_36p 1 predicted missense c.217 p.V73F 0 NULL NULL - no_errors PTMA 5757 broad.mit.edu 36 2 232281666 232281666 + Splice_Site SNP A A G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 232281666 232281666 A G SNP PTMA ENST00000409321 human ensembl 54_36p 1 known splice_site c.71-2 e2-2 1 - - - no_errors ALPP 250 broad.mit.edu 36 2 232953634 232953634 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 232953634 232953634 C T SNP ALPP NM_001632 human genbank 54_36p 1 reviewed missense c.923 p.P308L 1 "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc" "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE" - no_errors GIGYF2 26058 broad.mit.edu 36 2 233364332 233364332 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 233364332 233364332 C T SNP GIGYF2 NM_001103147 human genbank 54_36p 1 validated missense c.1277 p.T426M 0.01 NULL "superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF" - no_errors GIGYF2 26058 broad.mit.edu 36 2 233367824 233367824 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 233367824 233367824 G T SNP GIGYF2 NM_001103147 human genbank 54_36p 1 validated missense c.1468 p.V490F 0.06 NULL "HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF" - no_errors GIGYF2 26058 broad.mit.edu 36 2 233392788 233392788 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 233392788 233392788 C T SNP GIGYF2 NM_001103147 human genbank 54_36p 1 validated missense c.2441 p.A814V 1 NULL "HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF" - no_errors GIGYF2 26058 broad.mit.edu 36 2 233420471 233420473 + In_Frame_Del DEL ACA - ACA novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 ACA ACA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 233420471 233420473 ACA - DEL GIGYF2 NM_001103147 human genbank 54_36p 1 validated in_frame_del c.3693_3695 p.Q1235in_frame_del 0.150:0.990:0.985 NULL "superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF" "(deletion:cds_exon[233420302,233420525])" no_errors NGEF 25791 broad.mit.edu 36 2 233461000 233461000 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 233461000 233461000 T C SNP NGEF NM_019850 human genbank 54_36p -1 validated missense c.1334 p.K445R 0.92 "superfamily_DBL homology domain (DH-domain),HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors INPP5D 3635 broad.mit.edu 36 2 233695067 233695067 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 233695067 233695067 G A SNP INPP5D ENST00000359570 human ensembl 54_36p 1 known missense c.205 p.E69K 1 "HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550" "HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos" - no_errors INPP5D 3635 broad.mit.edu 36 2 233698786 233698786 + Nonsense_Mutation SNP C C G novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 233698786 233698786 C G SNP INPP5D ENST00000359570 human ensembl 54_36p 1 known nonsense c.437 p.S146* 0 NULL "HMMSmart_IPPc,HMMPfam_SH2,HMMSmart_SH2,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos,superfamily_SSF55550" - no_errors INPP5D 3635 broad.mit.edu 36 2 233777662 233777662 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 233777662 233777662 C A SNP INPP5D ENST00000359570 human ensembl 54_36p 1 known missense c.2995 p.P999T 0.83 NULL "HMMSmart_IPPc,HMMPfam_SH2,HMMSmart_SH2,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos,superfamily_SSF55550" - no_errors SAG 6295 broad.mit.edu 36 2 233901966 233901966 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 233901966 233901966 C A SNP SAG NM_000541 human genbank 54_36p 1 reviewed missense c.616 p.P206T 1 "superfamily_Ig_E-set,HMMPfam_Arrestin_C" "superfamily_Ig_E-set,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C" - no_errors DGKD 8527 broad.mit.edu 36 2 234041851 234041851 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 234041851 234041851 C A SNP DGKD NM_152879 human genbank 54_36p 1 reviewed missense c.3468 p.H1156Q 0.79 "HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" ############################################################################################################################################################################################################################################################### - no_errors UGT1A8 54576 broad.mit.edu 36 2 234191325 234191325 + Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 234191325 234191325 C G SNP UGT1A8 NM_019076 human genbank 54_36p 1 reviewed nonsense c.233 p.S78* 0 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A10 54575 broad.mit.edu 36 2 234210562 234210562 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 234210562 234210562 T C SNP UGT1A10 NM_019075 human genbank 54_36p 1 reviewed missense c.655 p.F219L 0 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A9 54600 broad.mit.edu 36 2 234245714 234245714 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 234245714 234245714 A T SNP UGT1A9 NM_021027 human genbank 54_36p 1 reviewed missense c.395 p.K132I 0 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A7 54577 broad.mit.edu 36 2 234256082 234256082 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 234256082 234256082 C T SNP UGT1A7 NM_019077 human genbank 54_36p 1 reviewed nonsense c.760 p.R254* 0.94 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A5 54579 broad.mit.edu 36 2 234286633 234286633 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 234286633 234286633 A C SNP UGT1A5 NM_019078 human genbank 54_36p 1 reviewed missense c.257 p.Q86P 0 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A4 54657 broad.mit.edu 36 2 234292325 234292325 + Silent SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 234292325 234292325 C G SNP UGT1A4 NM_007120 human genbank 54_36p 1 reviewed silent c.120 p.P40 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT1A3 54659 broad.mit.edu 36 2 234303353 234303353 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 234303353 234303353 G C SNP UGT1A3 NM_019093 human genbank 54_36p 1 reviewed missense c.842 p.C281S 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors HJURP 55355 broad.mit.edu 36 2 234419109 234419136 + Splice_Site DEL TTACCTCAAAATACTCTGCACCTTGTAG - TTACCTCAAAATACTCTGCACCTTGTAG novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D TTACCTCAAAATACTCTGCACCTTGTAG TTACCTCAAAATACTCTGCACCTTGTAG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 234419109 234419136 TTACCTCAAAATACTCTGCACCTTGTAG - DEL HJURP NM_018410 human genbank 54_36p -1 validated splice_site_del c.495+25_495+1 e7-1 0.027:0.051:0.122:0.139:0.136:0.110:0.011:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.001:0.003 - - "(deletion:intron[234417669,234419112], cds_exon[234419113,234419205])" no_errors ARL4C 10123 broad.mit.edu 36 2 235069407 235069407 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 235069407 235069407 T G SNP ARL4C NM_005737 human genbank 54_36p -1 reviewed missense c.563 p.Q188P 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Arf,HMMSmart_SM00177,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,PatternScan_ARF" - no_errors SH3BP4 23677 broad.mit.edu 36 2 235615757 235615757 + Silent SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 235615757 235615757 G A SNP SH3BP4 NM_014521 human genbank 54_36p 1 reviewed silent c.1605 p.Q535 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors SH3BP4 23677 broad.mit.edu 36 2 235615920 235615920 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 235615920 235615920 C T SNP SH3BP4 NM_014521 human genbank 54_36p 1 reviewed missense c.1768 p.R590W 1 NULL "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2" - no_errors AGAP1 116987 broad.mit.edu 36 2 236372871 236372871 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 236372871 236372871 G A SNP AGAP1 NM_001037131 human genbank 54_36p 1 validated missense c.923 p.R308H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ASB18 401036 broad.mit.edu 36 2 236814733 236814733 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 236814733 236814733 T G SNP ASB18 NM_212556 human genbank 54_36p -1 provisional missense c.257 p.N86T 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_SOCS_box" - no_errors IQCA1 79781 broad.mit.edu 36 2 237060261 237060261 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 237060261 237060261 G A SNP IQCA1 NM_024726 human genbank 54_36p -1 provisional missense c.670 p.R224C 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA" - no_errors COL6A3 1293 broad.mit.edu 36 2 237914270 237914270 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 237914270 237914270 G C SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.8028 p.D2676E 0.03 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors COL6A3 1293 broad.mit.edu 36 2 237940387 237940387 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 237940387 237940387 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.5182 p.V1728L 0 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COL6A3 1293 broad.mit.edu 36 2 237952151 237952151 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 237952151 237952151 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.2364 p.Q788H 0.99 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors LRRFIP1 9208 broad.mit.edu 36 2 238336867 238336867 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 238336867 238336867 T C SNP LRRFIP1 NM_004735 human genbank 54_36p 1 validated missense c.1700 p.V567A 0 NULL HMMPfam_DUF2051 - no_errors RBM44 375316 broad.mit.edu 36 2 238387025 238387025 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 238387025 238387025 G C SNP RBM44 NM_001080504 human genbank 54_36p 1 validated missense c.34 p.G12R 0.01 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors RBM44 375316 broad.mit.edu 36 2 238397705 238397705 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 238397705 238397705 T C SNP RBM44 NM_001080504 human genbank 54_36p 1 validated missense c.2353 p.W785R 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors RBM44 375316 broad.mit.edu 36 2 238402700 238402700 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 238402700 238402700 T C SNP RBM44 NM_001080504 human genbank 54_36p 1 validated missense c.2702 p.V901A 0.76 superfamily_SSF54928 "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors SCLY 51540 broad.mit.edu 36 2 238667798 238667798 + Splice_Site SNP A A C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 238667798 238667798 A C SNP SCLY NM_016510 human genbank 54_36p 1 validated splice_site c.1006-2 e10-2 0.99 - - - no_errors TRAF3IP1 26146 broad.mit.edu 36 2 238929448 238929448 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 238929448 238929448 A T SNP TRAF3IP1 NM_015650 human genbank 54_36p 1 validated missense c.1677 p.K559N 0.86 HMMPfam_MIP-T3 HMMPfam_MIP-T3 - no_errors TRAF3IP1 26146 broad.mit.edu 36 2 238970910 238970910 + Silent SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 238970910 238970910 C T SNP TRAF3IP1 NM_015650 human genbank 54_36p 1 validated silent c.1761 p.R587 0 HMMPfam_MIP-T3 HMMPfam_MIP-T3 - no_errors HDAC4 9759 broad.mit.edu 36 2 239776646 239776647 + Missense_Mutation DNP CA CA AT novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 239776646 239776647 CA AT DNP HDAC4 NM_006037 human genbank 54_36p -1 reviewed missense c.159_158 p.L53H 1.000:1.000 NULL "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" - no_errors PRR21 643905 broad.mit.edu 36 2 240631022 240631022 + Silent SNP G G C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 240631022 240631022 G C SNP LOC643905 NM_001080835 human genbank 54_36p -1 predicted silent c.51 p.G17 0.01 NULL NULL - no_errors OR6B3 150681 broad.mit.edu 36 2 240633458 240633458 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 240633458 240633458 C A SNP OR6B3 NM_173351 human genbank 54_36p -1 provisional missense c.705 p.W235C 0.03 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6B3 150681 broad.mit.edu 36 2 240633892 240633892 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 240633892 240633892 G A SNP OR6B3 NM_173351 human genbank 54_36p -1 provisional missense c.271 p.R91C 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors ANKMY1 51281 broad.mit.edu 36 2 241141048 241141049 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 241141048 241141049 GG TT DNP ANKMY1 NM_016552 human genbank 54_36p -1 validated missense c.169_168 p.H56Q 0.036:0.016 superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain "HMMSmart_SM00698,HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,PatternScan_WW_DOMAIN_1,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" - no_errors CAPN10 11132 broad.mit.edu 36 2 241177488 241177488 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 241177488 241177488 A C SNP CAPN10 NM_023083 human genbank 54_36p 1 reviewed missense c.197 p.K66T 1 "HMMSmart_SM00230,superfamily_Cysteine proteinases,HMMPfam_Peptidase_C2" "HMMSmart_SM00230,superfamily_Cysteine proteinases,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,superfamily_Calpain large subunit middle domain (domain III),HMMPfam_Calpain_III,HMMSmart_SM00720" - no_errors CAPN10 11132 broad.mit.edu 36 2 241183346 241183346 + Silent SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 241183346 241183346 G A SNP CAPN10 NM_023083 human genbank 54_36p 1 reviewed silent c.1230 p.A410 0 "HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III)" "PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_SM00230,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III),superfamily_Cysteine proteinases" - no_errors GPR35 2859 broad.mit.edu 36 2 241218213 241218213 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 241218213 241218213 C G SNP GPR35 NM_005301 human genbank 54_36p 1 provisional missense c.171 p.I57M 0.98 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors AQP12B 653437 broad.mit.edu 36 2 241270473 241270473 + Frame_Shift_Del DEL C - C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 241270473 241270473 C - DEL AQP12B NM_001102467 human genbank 54_36p -1 validated frame_shift_del c.455 p.S152fs 1 superfamily_MIP superfamily_MIP "(deletion:cds_exon[241270321,241270927])" no_errors KIF1A 547 broad.mit.edu 36 2 241333910 241333910 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 241333910 241333910 C A SNP KIF1A NM_004321 human genbank 54_36p -1 reviewed missense c.2989 p.G997C 1 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors AGXT 189 broad.mit.edu 36 2 241466192 241466192 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 241466192 241466192 C A SNP AGXT NM_000030 human genbank 54_36p 1 reviewed missense c.1023 p.D341E 0.76 "HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases" "HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases,PatternScan_AA_TRANSFER_CLASS_5" - no_errors SNED1 25992 broad.mit.edu 36 2 241637192 241637192 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 241637192 241637192 T C SNP SNED1 NM_001080437 human genbank 54_36p 1 provisional missense c.1585 p.C529R 0.99 superfamily_EGF/Laminin ############################################################################################################################################################################################################################################################### - no_errors SNED1 25992 broad.mit.edu 36 2 241670404 241670404 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 241670404 241670404 C T SNP SNED1 NM_001080437 human genbank 54_36p 1 provisional missense c.4073 p.S1358F 0.99 superfamily_EGF/Laminin ############################################################################################################################################################################################################################################################### - no_errors MTERFD2 130916 broad.mit.edu 36 2 241684145 241684145 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 241684145 241684145 C G SNP MTERFD2 NM_182501 human genbank 54_36p -1 provisional missense c.1087 p.E363Q 0.03 NULL "HMMPfam_mTERF,HMMSmart_SM00733" - no_errors PASK 23178 broad.mit.edu 36 2 241700379 241700379 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 241700379 241700379 G T SNP PASK NM_015148 human genbank 54_36p -1 validated missense c.3482 p.T1161N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PASK 23178 broad.mit.edu 36 2 241726813 241726813 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 241726813 241726813 G A SNP PASK NM_015148 human genbank 54_36p -1 validated missense c.670 p.R224C 0 "HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain)" "HMMSmart_SM00091,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_PAS,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_PYP-like sensor domain (PAS domain)" - no_errors PPP1R7 5510 broad.mit.edu 36 2 241748516 241748516 + Silent SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 241748516 241748516 T C SNP PPP1R7 NM_002712 human genbank 54_36p 1 provisional silent c.531 p.S177 0.87 "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1" "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00446" - no_errors PPP1R7 5510 broad.mit.edu 36 2 241754482 241754482 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 2 241754482 241754482 T C SNP PPP1R7 NM_002712 human genbank 54_36p 1 provisional missense c.772 p.Y258H 1 "HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like" "HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00446,HMMSmart_SM00365,superfamily_L domain-like" - no_errors FARP2 9855 broad.mit.edu 36 2 242044963 242044964 + Silent DNP AG AG TC novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 242044963 242044964 AG TC DNP FARP2 NM_014808 human genbank 54_36p 1 provisional silent c.1540_1541 p.LSD513 0.997:0.996 superfamily_DBL homology domain (DH-domain) ############################################################################################################################################################################################################################################################### - no_errors FARP2 9855 broad.mit.edu 36 2 242051477 242051477 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 242051477 242051477 C T SNP FARP2 NM_014808 human genbank 54_36p 1 provisional silent c.1732 p.L578 1 "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)" ############################################################################################################################################################################################################################################################### - no_errors BOK 666 broad.mit.edu 36 2 242150490 242150490 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 242150490 242150490 T C SNP BOK NM_032515 human genbank 54_36p 1 reviewed missense c.275 p.L92P 1 "superfamily_SSF56854,HMMPfam_Bcl-2,HMMSmart_BCL" "PatternScan_BH1,PatternScan_BH2,PatternScan_BH3,PatternScan_BH4_1,superfamily_SSF56854,HMMPfam_Bcl-2,HMMSmart_BCL" - no_errors PDCD1 5133 broad.mit.edu 36 2 242443625 242443625 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 242443625 242443625 C G SNP PDCD1 NM_005018 human genbank 54_36p -1 reviewed missense c.257 p.R86P 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors IL5RA 3568 broad.mit.edu 36 3 3112080 3112080 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 3112080 3112080 C T SNP IL5RA NM_000564 human genbank 54_36p -1 reviewed missense c.758 p.R253H 0.02 superfamily_Fibronectin type III "superfamily_Fibronectin type III,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2" - no_errors SETMAR 6419 broad.mit.edu 36 3 4329990 4329990 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 4329990 4329990 G A SNP SETMAR NM_006515 human genbank 54_36p 1 validated missense c.526 p.D176N 0.05 "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" "HMMSmart_SM00468,HMMPfam_Pre-SET,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMPfam_Transposase_1" - no_errors ITPR1 3708 broad.mit.edu 36 3 4678822 4678822 + Silent SNP T T A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 4678822 4678822 T A SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated silent c.1308 p.S436 1 superfamily_IP3 receptor type 1 binding core domain 2 "HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors EDEM1 9695 broad.mit.edu 36 3 5224779 5224779 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 5224779 5224779 T G SNP EDEM1 NM_014674 human genbank 54_36p 1 validated missense c.1340 p.V447G 1 "superfamily_Seven-hairpin glycosidases,HMMPfam_Glyco_hydro_47" "superfamily_Seven-hairpin glycosidases,HMMPfam_Glyco_hydro_47" - no_errors GRM7 2917 broad.mit.edu 36 3 7431806 7431806 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 7431806 7431806 C T SNP GRM7 NM_181874 human genbank 54_36p 1 reviewed missense c.1130 p.T377M 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GRM7 2917 broad.mit.edu 36 3 7595140 7595140 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 7595140 7595140 G A SNP GRM7 NM_181874 human genbank 54_36p 1 reviewed missense c.1547 p.R516Q 0.99 superfamily_SSF53822 "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822" - no_errors C3orf32 51066 broad.mit.edu 36 3 8650578 8650578 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 8650578 8650578 G C SNP C3orf32 NM_015931 human genbank 54_36p -1 predicted missense c.47 p.P16R 0.06 NULL NULL - no_errors RAD18 56852 broad.mit.edu 36 3 8980025 8980025 + Silent SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 8980025 8980025 G A SNP RAD18 NM_020165 human genbank 54_36p -1 reviewed silent c.45 p.V15 0.84 superfamily_RING/U-box "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00734,HMMPfam_SAP,HMMSmart_SM00513" - no_errors SETD5 55209 broad.mit.edu 36 3 9445678 9445678 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 9445678 9445678 T C SNP SETD5 NM_001080517 human genbank 54_36p 1 provisional missense c.56 p.M19T 1 NULL "superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" - no_errors SETD5 55209 broad.mit.edu 36 3 9487490 9487490 + Silent SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 9487490 9487490 A G SNP SETD5 NM_001080517 human genbank 54_36p 1 provisional silent c.3072 p.G1024 0.86 NULL "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors SETD5 55209 broad.mit.edu 36 3 9492427 9492427 + Silent SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 9492427 9492427 T C SNP SETD5 NM_001080517 human genbank 54_36p 1 provisional silent c.3981 p.S1327 1 NULL "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors LHFPL4 375323 broad.mit.edu 36 3 9522805 9522805 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 9522805 9522805 C T SNP LHFPL4 NM_198560 human genbank 54_36p -1 reviewed silent c.489 p.T163 0.5 HMMPfam_L_HGMIC_fpl HMMPfam_L_HGMIC_fpl - no_errors CPNE9 151835 broad.mit.edu 36 3 9735228 9735228 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 9735228 9735228 C T SNP CPNE9 NM_153635 human genbank 54_36p 1 validated missense c.1183 p.R395C 1 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" - no_errors BRPF1 7862 broad.mit.edu 36 3 9757526 9757526 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 9757526 9757526 C G SNP BRPF1 NM_001003694 human genbank 54_36p 1 reviewed missense c.1623 p.H541Q 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP" - no_errors OGG1 4968 broad.mit.edu 36 3 9782658 9782658 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 9782658 9782658 G C SNP OGG1 NM_016821 human genbank 54_36p 1 reviewed missense c.1114 p.D372H 0 NULL "superfamily_TFIID_C/glycos_N,HMMPfam_OGG_N,superfamily_DNA_glycsylse,HMMPfam_HhH-GPD,HMMSmart_ENDO3c" - no_errors IL17RC 84818 broad.mit.edu 36 3 9934070 9934070 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 9934070 9934070 T G SNP IL17RC NM_153461 human genbank 54_36p 1 reviewed missense c.71 p.L24R 0.39 NULL HMMPfam_SEFIR - no_errors SEC13 6396 broad.mit.edu 36 3 10332041 10332041 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 10332041 10332041 C T SNP SEC13 NM_183352 human genbank 54_36p -1 reviewed missense c.128 p.R43H 1 superfamily_WD40_like "PatternScan_WD_REPEATS_1,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like" - no_errors ATP2B2 491 broad.mit.edu 36 3 10392222 10392222 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 10392222 10392222 G A SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed silent c.1308 p.Y436 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase" ############################################################################################################################################################################################################################################################### - no_errors ATP2B2 491 broad.mit.edu 36 3 10466053 10466053 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 10466053 10466053 G A SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed missense c.175 p.R59C 1 "HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M" ############################################################################################################################################################################################################################################################### - no_errors ATP2B2 491 broad.mit.edu 36 3 10466191 10466191 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 10466191 10466191 T C SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed missense c.37 p.N13D 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SLC6A1 6529 broad.mit.edu 36 3 11034656 11034656 + Silent SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 11034656 11034656 C T SNP SLC6A1 NM_003042 human genbank 54_36p 1 validated silent c.366 p.F122 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors VGLL4 9686 broad.mit.edu 36 3 11618368 11618368 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 11618368 11618368 C A SNP VGLL4 NM_014667 human genbank 54_36p -1 validated nonsense c.193 p.E65* 0.99 NULL HMMSmart_SM00711 - no_errors C3orf31 132001 broad.mit.edu 36 3 11826157 11826157 + Splice_Site SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 11826157 11826157 C G SNP C3orf31 NM_138807 human genbank 54_36p -1 provisional splice_site c.709-1 e6-1 1 - - - no_errors IQSEC1 9922 broad.mit.edu 36 3 12932152 12932152 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 12932152 12932152 T C SNP IQSEC1 NM_014869 human genbank 54_36p -1 validated missense c.2144 p.N715S 1 superfamily_Sec7 domain "superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMSmart_SM00233" - no_errors IQSEC1 9922 broad.mit.edu 36 3 12938738 12938738 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 12938738 12938738 C T SNP IQSEC1 NM_014869 human genbank 54_36p -1 validated missense c.1777 p.V593I 1 "HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain" "HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors NUP210 23225 broad.mit.edu 36 3 13335796 13335796 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 13335796 13335796 C A SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed missense c.5413 p.D1805Y 1 NULL "superfamily_Invasin/intimin cell-adhesion fragments,HMMPfam_Big_2,HMMSmart_SM00635" - no_errors NUP210 23225 broad.mit.edu 36 3 13338792 13338792 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 13338792 13338792 C G SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed missense c.4816 p.E1606Q 0.2 NULL "HMMPfam_Big_2,HMMSmart_SM00635,superfamily_Invasin/intimin cell-adhesion fragments" - no_errors NUP210 23225 broad.mit.edu 36 3 13353308 13353308 + Silent SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 13353308 13353308 G A SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed silent c.3663 p.D1221 0.99 NULL "HMMPfam_Big_2,HMMSmart_SM00635,superfamily_Invasin/intimin cell-adhesion fragments" - no_errors NUP210 23225 broad.mit.edu 36 3 13392904 13392904 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 13392904 13392904 C A SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed missense c.1180 p.A394S 0.02 NULL "HMMPfam_Big_2,HMMSmart_SM00635,superfamily_Invasin/intimin cell-adhesion fragments" - no_errors HDAC11 79885 broad.mit.edu 36 3 13513271 13513271 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 13513271 13513271 C T SNP HDAC11 NM_024827 human genbank 54_36p 1 provisional silent c.288 p.P96 1 "superfamily_SSF52768,HMMPfam_Hist_deacetyl" "superfamily_SSF52768,HMMPfam_Hist_deacetyl" - no_errors HDAC11 79885 broad.mit.edu 36 3 13517290 13517290 + Splice_Site SNP G G C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 13517290 13517290 G C SNP HDAC11 NM_024827 human genbank 54_36p 1 provisional splice_site c.489+1 e6+1 1 - - - no_errors FBLN2 2199 broad.mit.edu 36 3 13588029 13588029 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 13588029 13588029 A G SNP FBLN2 NM_001004019 human genbank 54_36p 1 reviewed missense c.1174 p.I392V 0 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region FBLN2 2199 broad.mit.edu 36 3 13636311 13636311 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 13636311 13636311 G A SNP FBLN2 ENST00000295761 human ensembl 54_36p 1 known missense c.2131 p.A711T 1 "HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin" "HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors FBLN2 2199 broad.mit.edu 36 3 13653070 13653070 + Splice_Site SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 13653070 13653070 G A SNP FBLN2 ENST00000295761 human ensembl 54_36p 1 known splice_site c.3335+1 e17+1 1 - - - no_errors WNT7A 7476 broad.mit.edu 36 3 13835897 13835897 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 13835897 13835897 C G SNP WNT7A NM_004625 human genbank 54_36p -1 reviewed missense c.595 p.E199Q 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors WNT7A 7476 broad.mit.edu 36 3 13871087 13871087 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 13871087 13871087 C A SNP WNT7A NM_004625 human genbank 54_36p -1 reviewed missense c.513 p.E171D 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors WNT7A 7476 broad.mit.edu 36 3 13871219 13871219 + Silent SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 13871219 13871219 G A SNP WNT7A NM_004625 human genbank 54_36p -1 reviewed silent c.381 p.N127 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors XPC 7508 broad.mit.edu 36 3 14165214 14165214 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 14165214 14165214 C G SNP XPC ENST00000285021 human ensembl 54_36p -1 known missense c.2260 p.G754R 1 HMMPfam_BHD_3 "HMMPfam_Rad4,HMMPfam_BHD_1,HMMPfam_BHD_2,HMMPfam_BHD_3" - no_errors GRIP2 80852 broad.mit.edu 36 3 14511477 14511477 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 14511477 14511477 G A SNP GRIP2 NM_001080423 human genbank 54_36p -1 provisional missense c.3142 p.R1048W 0.02 "superfamily_PDZ domain-like,HMMPfam_PDZ" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors C3orf20 84077 broad.mit.edu 36 3 14699308 14699308 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 14699308 14699308 C A SNP C3orf20 NM_032137 human genbank 54_36p 1 predicted silent c.84 p.L28 0.63 NULL NULL - no_errors C3orf20 84077 broad.mit.edu 36 3 14773895 14773895 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 14773895 14773895 G A SNP C3orf20 NM_032137 human genbank 54_36p 1 predicted missense c.1954 p.E652K 0.01 NULL NULL - no_errors C3orf20 84077 broad.mit.edu 36 3 14778011 14778011 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 14778011 14778011 G T SNP C3orf20 NM_032137 human genbank 54_36p 1 predicted missense c.2380 p.G794W 1 NULL NULL - no_errors FGD5 152273 broad.mit.edu 36 3 14837164 14837164 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 14837164 14837164 G C SNP FGD5 NM_152536 human genbank 54_36p 1 validated missense c.859 p.G287R 1 NULL "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF,PatternScan_C_TYPE_LECTIN_1" - no_errors CAPN7 23473 broad.mit.edu 36 3 15257122 15257122 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 15257122 15257122 G C SNP CAPN7 NM_014296 human genbank 54_36p 1 reviewed missense c.1546 p.D516H 1 "superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2" "PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMSmart_MIT,HMMPfam_MIT,superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2,superfamily_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_calpain_III" - no_errors SH3BP5 9467 broad.mit.edu 36 3 15273559 15273559 + Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 15273559 15273559 G A SNP SH3BP5 NM_004844 human genbank 54_36p -1 validated nonsense c.955 p.Q319* 1 NULL HMMPfam_SH3BP5 - no_errors ANKRD28 23243 broad.mit.edu 36 3 15724566 15724566 + Silent SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 15724566 15724566 C T SNP ANKRD28 NM_015199 human genbank 54_36p -1 provisional silent c.1326 p.L442 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank" - no_errors RFTN1 23180 broad.mit.edu 36 3 16333370 16333373 + Frame_Shift_Del DEL ACTT - - novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 ACTT ACTT - - ACTT ACTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 16333370 16333373 ACTT - DEL RFTN1 NM_015150 human genbank 54_36p -1 validated frame_shift_del c.1706_1703 p.E568fs 0.000:0.000:0.000:0.000 NULL NULL "(deletion:cds_exon[16333339,16333743])" no_errors RFTN1 23180 broad.mit.edu 36 3 16333610 16333610 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 16333610 16333610 C A SNP RFTN1 NM_015150 human genbank 54_36p -1 validated missense c.1466 p.G489V 0 NULL NULL - no_errors RFTN1 23180 broad.mit.edu 36 3 16333734 16333734 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 16333734 16333734 G A SNP RFTN1 NM_015150 human genbank 54_36p -1 validated nonsense c.1342 p.R448* 1 NULL NULL - no_errors PLCL2 23228 broad.mit.edu 36 3 17026287 17026287 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 17026287 17026287 C A SNP PLCL2 NM_015184 human genbank 54_36p 1 validated missense c.67 p.L23I 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors TBC1D5 9779 broad.mit.edu 36 3 17177465 17177465 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 17177465 17177465 G T SNP TBC1D5 NM_014744 human genbank 54_36p -1 validated missense c.2382 p.D794E 1 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC" - no_errors KCNH8 131096 broad.mit.edu 36 3 19359136 19359136 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 19359136 19359136 C G SNP KCNH8 NM_144633 human genbank 54_36p 1 reviewed missense c.496 p.R166G 1 NULL "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" - no_errors EFHB 151651 broad.mit.edu 36 3 19896296 19896296 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 19896296 19896296 G A SNP EFHB NM_144715 human genbank 54_36p -1 validated missense c.2333 p.A778V 1 superfamily_EF-hand "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors ZNF385D 79750 broad.mit.edu 36 3 21437843 21437843 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 21437843 21437843 C A SNP ZNF385D NM_024697 human genbank 54_36p -1 provisional missense c.1055 p.S352I 0.99 NULL "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2" - no_errors NKIRAS1 28512 broad.mit.edu 36 3 23909739 23909739 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture Capture Illumina GAIIx 3 23909739 23909739 C T SNP NKIRAS1 NM_020345 human genbank 54_36p -1 validated missense c.430 p.V144I 1 "superfamily_SSF52540,HMMPfam_Ras" "superfamily_SSF52540,HMMPfam_Ras" - no_errors NR1D2 9975 broad.mit.edu 36 3 23993837 23993837 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 23993837 23993837 C A SNP NR1D2 NM_005126 human genbank 54_36p 1 reviewed missense c.1663 p.L555I 1 "superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors TOP2B 7155 broad.mit.edu 36 3 25640152 25640152 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 25640152 25640152 T C SNP TOP2B NM_001068 human genbank 54_36p -1 reviewed missense c.2570 p.Y857C 1 "superfamily_Topo_IIA_cen,HMMSmart_TOP4c,HMMPfam_DNA_topoisoIV" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMSmart_TOP2c,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_gyraseB,superfamily_Topo_IIA_cen,PatternScan_TOPOISOMERASE_II,HMMSmart_TOP4c,HMMPfam_DNA_topoisoIV,HMMPfam_DTHCT" - no_errors LRRC3B 116135 broad.mit.edu 36 3 26726762 26726762 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 26726762 26726762 A G SNP LRRC3B NM_052953 human genbank 54_36p 1 provisional missense c.595 p.K199E 1 NULL "HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors NEK10 152110 broad.mit.edu 36 3 27362694 27362694 + Missense_Mutation SNP G G C rs56125830 Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 27362694 27362694 G C SNP NEK10 ENST00000341435 human ensembl 54_36p -1 known missense c.150 p.F50L 1 NULL "superfamily_ARM repeat,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors SLC4A7 9497 broad.mit.edu 36 3 27414817 27414817 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 27414817 27414817 C G SNP SLC4A7 NM_003615 human genbank 54_36p -1 validated missense c.2432 p.G811A 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC4A7 9497 broad.mit.edu 36 3 27447846 27447846 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 27447846 27447846 G T SNP SLC4A7 NM_003615 human genbank 54_36p -1 validated missense c.1070 p.A357E 0.72 HMMPfam_Band_3_cyto "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein" - no_errors EOMES 8320 broad.mit.edu 36 3 27733589 27733589 + Nonsense_Mutation SNP A A C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 27733589 27733589 A C SNP EOMES NM_005442 human genbank 54_36p -1 reviewed nonsense c.2037 p.Y679* 1 NULL "HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors AZI2 64343 broad.mit.edu 36 3 28355078 28355078 + Silent SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 28355078 28355078 G A SNP AZI2 NM_022461 human genbank 54_36p -1 validated silent c.249 p.S83 1 NULL NULL - no_errors ZCWPW2 152098 broad.mit.edu 36 3 28429700 28429700 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 28429700 28429700 G T SNP ZCWPW2 NM_001040432 human genbank 54_36p 1 provisional missense c.137 p.S46I 1 HMMPfam_zf-CW "HMMPfam_zf-CW,superfamily_SSF63748,HMMPfam_PWWP" - no_errors ZCWPW2 152098 broad.mit.edu 36 3 28429761 28429761 + Silent SNP A A G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 28429761 28429761 A G SNP ZCWPW2 NM_001040432 human genbank 54_36p 1 provisional silent c.198 p.S66 0.02 HMMPfam_zf-CW "HMMPfam_PWWP,HMMPfam_zf-CW,superfamily_SSF63748" - no_errors TGFBR2 7048 broad.mit.edu 36 3 30704919 30704919 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 30704919 30704919 G A SNP TGFBR2 NM_001024847 human genbank 54_36p 1 reviewed missense c.1511 p.R504Q 1 "HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" "HMMPfam_ecTbetaR2,superfamily_Snake toxin-like,HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TRIM71 131405 broad.mit.edu 36 3 32907212 32907212 + Silent SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 32907212 32907212 C A SNP TRIM71 NM_001039111 human genbank 54_36p 1 provisional silent c.1512 p.S504 0.96 "HMMPfam_Filamin,HMMSmart_IG_FLMN,superfamily_Ig_E-set" "HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_Filamin,HMMSmart_IG_FLMN,superfamily_Ig_E-set,superfamily_SSF101898,HMMPfam_NHL" - no_errors SUSD5 26032 broad.mit.edu 36 3 33230456 33230456 + Silent SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 33230456 33230456 G A SNP SUSD5 NM_015551 human genbank 54_36p -1 validated silent c.258 p.C86 0.96 "HMMPfam_Xlink,HMMSmart_LINK,superfamily_C-type_lectin_fold" "HMMSmart_CCP,HMMPfam_Xlink,HMMSmart_LINK,PatternScan_LINK_1,superfamily_Complement_control_module,superfamily_C-type_lectin_fold" - no_errors UBP1 7342 broad.mit.edu 36 3 33456238 33456238 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 33456238 33456238 C A SNP UBP1 NM_014517 human genbank 54_36p -1 validated missense c.107 p.S36I 1 HMMPfam_CP2 "HMMPfam_CP2,superfamily_SAM/Pointed domain" - no_errors ARPP21 10777 broad.mit.edu 36 3 35753797 35753797 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 35753797 35753797 C T SNP ARPP-21 NM_016300 human genbank 54_36p 1 validated missense c.1583 p.P528L 0.29 NULL "HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H" - no_errors STAC 6769 broad.mit.edu 36 3 36509724 36509724 + Silent SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 36509724 36509724 C T SNP STAC NM_003149 human genbank 54_36p 1 provisional silent c.765 p.S255 1 NULL "HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_Cysteine-rich domain,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors EPM2AIP1 9852 broad.mit.edu 36 3 37008083 37008084 + Frame_Shift_Ins INS - C - novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 37008083 37008084 - C INS EPM2AIP1 NM_014805 human genbank 54_36p -1 reviewed frame_shift_ins c.1490_1489 p.E497fs 0.935:0.684 NULL NULL - no_errors EPM2AIP1 9852 broad.mit.edu 36 3 37009561 37009561 + Silent SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 37009561 37009561 C G SNP EPM2AIP1 NM_014805 human genbank 54_36p -1 reviewed silent c.12 p.T4 0.99 NULL NULL - no_errors MLH1 4292 broad.mit.edu 36 3 37017540 37017540 + Nonsense_Mutation SNP C C T rs63751221 Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 37017540 37017540 C T SNP MLH1 NM_000249 human genbank 54_36p 1 reviewed nonsense c.298 p.R100* 1 "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair" - no_errors GOLGA4 2803 broad.mit.edu 36 3 37340324 37340324 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 37340324 37340324 A C SNP GOLGA4 NM_002078 human genbank 54_36p 1 reviewed missense c.1943 p.K648T 0.71 NULL "superfamily_Prefoldin,PatternScan_PHOSPHOPANTETHEINE,HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain" - no_errors C3orf35 339883 broad.mit.edu 36 3 37451453 37451453 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 37451453 37451453 G T SNP C3orf35 NM_178339 human genbank 54_36p 1 validated missense c.341 p.G114V 0 NULL NULL - no_errors DLEC1 9940 broad.mit.edu 36 3 38114099 38114099 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 38114099 38114099 G A SNP DLEC1 NM_007337 human genbank 54_36p 1 reviewed silent c.2532 p.S844 0 NULL NULL - no_errors ACVR2B 93 broad.mit.edu 36 3 38493821 38493821 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 38493821 38493821 A T SNP ACVR2B NM_001106 human genbank 54_36p 1 reviewed missense c.92 p.Y31F 1 "superfamily_Snake toxin-like,HMMPfam_Activin_recp" "superfamily_Snake toxin-like,HMMPfam_Activin_recp,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" - no_errors SCN5A 6331 broad.mit.edu 36 3 38567056 38567056 + Silent SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 38567056 38567056 G A SNP SCN5A NM_001099404 human genbank 54_36p -1 reviewed silent c.5811 p.S1937 0.4 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ" - no_errors SCN5A 6331 broad.mit.edu 36 3 38621301 38621301 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 38621301 38621301 G A SNP SCN5A NM_001099404 human genbank 54_36p -1 reviewed missense c.1441 p.R481W 0.4 NULL "HMMPfam_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN10A 6336 broad.mit.edu 36 3 38745228 38745228 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 38745228 38745228 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated nonsense c.2449 p.R817* 0 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc" - no_errors SCN10A 6336 broad.mit.edu 36 3 38777222 38777222 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 38777222 38777222 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated nonsense c.904 p.R302* 0.01 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324" - no_errors SCN11A 11280 broad.mit.edu 36 3 38916410 38916411 + Missense_Mutation DNP TG TG AT novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 38916410 38916411 TG AT DNP SCN11A NM_014139 human genbank 54_36p -1 validated missense c.2001_2000 p.P667H 0.000:0.000 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc" - no_errors TTC21A 199223 broad.mit.edu 36 3 39145335 39145335 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 39145335 39145335 G A SNP TTC21A NM_001105513 human genbank 54_36p 1 validated missense c.1828 p.G610S 0.16 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors CSRNP1 64651 broad.mit.edu 36 3 39160039 39160039 + Silent SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 39160039 39160039 G A SNP AXUD1 NM_033027 human genbank 54_36p -1 reviewed silent c.1281 p.D427 0.98 NULL NULL - no_errors CSRNP1 64651 broad.mit.edu 36 3 39160375 39160375 + Silent SNP A A T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 39160375 39160375 A T SNP AXUD1 NM_033027 human genbank 54_36p -1 reviewed silent c.945 p.P315 0 NULL NULL - no_errors CSRNP1 64651 broad.mit.edu 36 3 39163086 39163086 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 39163086 39163086 C G SNP AXUD1 NM_033027 human genbank 54_36p -1 reviewed missense c.92 p.R31P 0 NULL NULL - no_errors XIRP1 165904 broad.mit.edu 36 3 39204122 39204122 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 39204122 39204122 C T SNP XIRP1 NM_194293 human genbank 54_36p -1 provisional missense c.1819 p.A607T 0.02 NULL HMMPfam_Xin - no_errors MOBP 4336 broad.mit.edu 36 3 39518705 39518705 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 39518705 39518705 T G SNP MOBP NM_182935 human genbank 54_36p 1 validated missense c.141 p.C47W 1 HMMPfam_MOBP HMMPfam_MOBP - no_errors MYRIP 25924 broad.mit.edu 36 3 40060605 40060605 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 40060605 40060605 G T SNP MYRIP NM_015460 human genbank 54_36p 1 validated missense c.171 p.Q57H 1 "superfamily_FYVE_PHD_ZnF,HMMPfam_MOBP" "superfamily_FYVE_PHD_ZnF,HMMPfam_MOBP" - no_errors MYRIP 25924 broad.mit.edu 36 3 40261045 40261045 + Silent SNP G G A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 40261045 40261045 G A SNP MYRIP NM_015460 human genbank 54_36p 1 validated silent c.2205 p.A735 0.95 NULL "HMMPfam_MOBP,superfamily_FYVE_PHD_ZnF" - no_errors ENTPD3 956 broad.mit.edu 36 3 40432431 40432431 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 40432431 40432431 G T SNP ENTPD3 NM_001248 human genbank 54_36p 1 validated nonsense c.694 p.G232* 0.25 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors ZNF620 253639 broad.mit.edu 36 3 40528908 40528908 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 40528908 40528908 A T SNP ZNF620 NM_175888 human genbank 54_36p 1 validated missense c.163 p.T55S 0.02 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF621 285268 broad.mit.edu 36 3 40548885 40548885 + Missense_Mutation SNP A A G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 40548885 40548885 A G SNP ZNF621 NM_001098414 human genbank 54_36p 1 validated missense c.620 p.Y207C 0.8 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CTNNB1 1499 broad.mit.edu 36 3 41253081 41253081 + Splice_Site SNP A A G rs71811389 Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 41253081 41253081 A G SNP CTNNB1 NM_001098209 human genbank 54_36p 1 validated splice_site c.1955-2 e12-2 1 - - - no_errors ULK4 54986 broad.mit.edu 36 3 41721792 41721792 + Nonsense_Mutation SNP T T A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 41721792 41721792 T A SNP ULK4 NM_017886 human genbank 54_36p -1 validated nonsense c.2644 p.K882* 0.64 NULL "PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,superfamily_ARM-type_fold" - no_errors NKTR 4820 broad.mit.edu 36 3 42662461 42662462 + Missense_Mutation DNP GA GA TC novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 42662461 42662462 GA TC DNP NKTR NM_005385 human genbank 54_36p 1 reviewed missense c.4379_4380 p.R1460I 1.000:1.000 NULL "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors ZBTB47 92999 broad.mit.edu 36 3 42680326 42680326 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 42680326 42680326 C G SNP ZBTB47 NM_145166 human genbank 54_36p 1 validated missense c.643 p.L215V 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors KBTBD5 131377 broad.mit.edu 36 3 42702426 42702426 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 42702426 42702426 G T SNP KBTBD5 NM_152393 human genbank 54_36p 1 validated missense c.312 p.L104F 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors HHATL 57467 broad.mit.edu 36 3 42713345 42713345 + Missense_Mutation SNP G G T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 42713345 42713345 G T SNP HHATL NM_020707 human genbank 54_36p -1 provisional missense c.1039 p.L347I 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors HHATL 57467 broad.mit.edu 36 3 42714831 42714831 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 42714831 42714831 C T SNP HHATL NM_020707 human genbank 54_36p -1 provisional missense c.500 p.G167D 1 NULL HMMPfam_MBOAT - no_errors CCDC13 152206 broad.mit.edu 36 3 42774686 42774686 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 42774686 42774686 C A SNP CCDC13 NM_144719 human genbank 54_36p -1 validated missense c.156 p.E52D 0 NULL NULL - no_errors CYP8B1 1582 broad.mit.edu 36 3 42892237 42892237 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 42892237 42892237 G A SNP CYP8B1 NM_004391 human genbank 54_36p -1 reviewed nonsense c.76 p.R26* 0.32 NULL "superfamily_Cytochrome P450,HMMPfam_p450" - no_errors C3orf39 84892 broad.mit.edu 36 3 43096740 43096740 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 43096740 43096740 C T SNP C3orf39 NM_032806 human genbank 54_36p -1 provisional missense c.1188 p.M396I 0.08 NULL superfamily_Fibronectin type III - no_errors SNRK 54861 broad.mit.edu 36 3 43363914 43363914 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 3 43363914 43363914 G T SNP SNRK NM_001100594 human genbank 54_36p 1 validated missense c.1159 p.V387F 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SNRK 54861 broad.mit.edu 36 3 43364243 43364243 + Silent SNP C C T rs2036617 "by-cluster,by-frequency,by-2hit-2allele,by-hapmap" TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 43364243 43364243 C T SNP SNRK NM_001100594 human genbank 54_36p 1 validated silent c.1488 p.D496 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors SNRK 54861 broad.mit.edu 36 3 43364896 43364899 + Frame_Shift_Del DEL CCAC - CCAC novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W CCAC CCAC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 43364896 43364899 CCAC - DEL SNRK NM_001100594 human genbank 54_36p 1 validated frame_shift_del c.2141_2144 p.T715fs 0.034:0.018:0.005:0.001 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" "(deletion:cds_exon[43363835,43365053])" no_errors ANO10 55129 broad.mit.edu 36 3 43593194 43593194 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 43593194 43593194 A C SNP ANO10 NM_018075 human genbank 54_36p -1 validated missense c.1156 p.S386A 0.26 NULL HMMPfam_DUF590 - no_errors ZNF445 353274 broad.mit.edu 36 3 44471659 44471659 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 44471659 44471659 C G SNP ZNF445 NM_181489 human genbank 54_36p -1 validated missense c.387 p.L129F 1 "HMMPfam_SCAN,HMMSmart_SCAN" "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF167 55888 broad.mit.edu 36 3 44586966 44586966 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 44586966 44586966 C G SNP ZNF167 NM_018651 human genbank 54_36p 1 validated missense c.1360 p.L454V 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF35 7584 broad.mit.edu 36 3 44676299 44676299 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 44676299 44676299 G A SNP ZNF35 NM_003420 human genbank 54_36p 1 validated silent c.1440 p.G480 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TGM4 7047 broad.mit.edu 36 3 44927870 44927870 + Silent SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 44927870 44927870 G T SNP TGM4 NM_003241 human genbank 54_36p 1 validated silent c.1881 p.L627 1 "superfamily_Transglut_C,HMMPfam_Transglut_C" "superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core,superfamily_Transglut_C,HMMPfam_Transglut_C" - no_errors CCR3 1232 broad.mit.edu 36 3 46281819 46281819 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 46281819 46281819 G T SNP CCR3 NM_001837 human genbank 54_36p 1 reviewed missense c.166 p.V56L 0.89 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RTP3 83597 broad.mit.edu 36 3 46517046 46517046 + Silent SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 46517046 46517046 C T SNP RTP3 NM_031440 human genbank 54_36p 1 provisional silent c.352 p.L118 0.94 NULL NULL - no_errors NBEAL2 23218 broad.mit.edu 36 3 47013841 47013841 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 47013841 47013841 C G SNP NBEAL2 NM_015175 human genbank 54_36p 1 validated missense c.2738 p.P913R 0.25 NULL "superfamily_ARM repeat,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors NBEAL2 23218 broad.mit.edu 36 3 47014167 47014167 + Silent SNP C C A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 47014167 47014167 C A SNP NBEAL2 NM_015175 human genbank 54_36p 1 validated silent c.2937 p.I979 1 NULL "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEAL2 23218 broad.mit.edu 36 3 47021022 47021023 + Missense_Mutation DNP TA TA CC novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 TA TA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 47021022 47021023 TA CC DNP NBEAL2 NM_015175 human genbank 54_36p 1 validated missense c.6232_6233 p.Y2078P 1.000:1.000 "HMMPfam_Beach,superfamily_BEACH domain" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors SETD2 29072 broad.mit.edu 36 3 47073750 47073750 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 47073750 47073750 A T SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed nonsense c.5019 p.Y1673* 1 NULL "superfamily_Ferritin/RR_like,superfamily_SSF82199,HMMSmart_AWS,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_SRI_2" - no_errors SETD2 29072 broad.mit.edu 36 3 47100875 47100875 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 47100875 47100875 A T SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.3890 p.I1297N 1 NULL "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,HMMSmart_AWS,superfamily_Ferritin/RR_like,HMMPfam_SRI_2,superfamily_SSF82199" - no_errors CSPG5 10675 broad.mit.edu 36 3 47593426 47593426 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 47593426 47593426 C T SNP CSPG5 NM_006574 human genbank 54_36p -1 validated missense c.1094 p.R365Q 0.2 NULL "HMMPfam_Chon_Sulph_att,HMMSmart_EGF,HMMPfam_Neural_ProG_Cyt" - no_errors DHX30 22907 broad.mit.edu 36 3 47857576 47857577 + Missense_Mutation DNP AG AG CA novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 47857576 47857577 AG CA DNP DHX30 NM_138615 human genbank 54_36p 1 reviewed missense c.572_573 p.E191A 1.000:0.998 NULL "superfamily_dsRNA-binding domain-like,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DHX30 22907 broad.mit.edu 36 3 47866108 47866127 + Splice_Site DEL GCCCTGTGTTCCCTAGGGAG - GCCCTGTGTTCCCTAGGGAG novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D GCCCTGTGTTCCCTAGGGAG GCCCTGTGTTCCCTAGGGAG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 47866108 47866127 GCCCTGTGTTCCCTAGGGAG - DEL DHX30 NM_138615 human genbank 54_36p 1 reviewed splice_site_del c.3192-16_3192-1 e19-1 0.067:0.064:0.006:0.001:0.001:0.000:0.000:0.003:0.149:0.922:0.967:0.971:0.975:0.970:1.000:1.000:1.000:1.000:1.000:0.996 - - "(deletion:intron[47866049,47866123], cds_exon[47866124,47866263])" no_errors ZNF589 51385 broad.mit.edu 36 3 48285204 48285204 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 48285204 48285204 G T SNP ZNF589 NM_016089 human genbank 54_36p 1 validated missense c.1019 p.G340V 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PLXNB1 5364 broad.mit.edu 36 3 48436043 48436043 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48436043 48436043 T C SNP PLXNB1 NM_002673 human genbank 54_36p -1 validated missense c.2656 p.I886V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ATRIP 84126 broad.mit.edu 36 3 48476710 48476710 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48476710 48476710 A G SNP ATRIP NM_130384 human genbank 54_36p 1 reviewed missense c.1253 p.H418R 1 NULL NULL - no_errors ATRIP 84126 broad.mit.edu 36 3 48481410 48481410 + Silent SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48481410 48481410 C T SNP ATRIP NM_130384 human genbank 54_36p 1 reviewed silent c.2232 p.V744 1 NULL NULL - no_errors PFKFB4 5210 broad.mit.edu 36 3 48551058 48551058 + Splice_Site SNP T T A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48551058 48551058 T A SNP PFKFB4 NM_004567 human genbank 54_36p -1 provisional splice_site c.511-2 e7-2 1 - - - no_errors COL7A1 1294 broad.mit.edu 36 3 48584454 48584454 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 48584454 48584454 C G SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed missense c.7052 p.G2351A 1 HMMPfam_Collagen "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_Collagen,superfamily_BPTI-like,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1" - no_errors COL7A1 1294 broad.mit.edu 36 3 48589336 48589336 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48589336 48589336 G A SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed silent c.5589 p.G1863 0.07 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors COL7A1 1294 broad.mit.edu 36 3 48600780 48600780 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 48600780 48600780 C T SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed silent c.2649 p.L883 0.89 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like" - no_errors UQCRC1 7384 broad.mit.edu 36 3 48618282 48618283 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48618282 48618283 CC AA DNP UQCRC1 NM_003365 human genbank 54_36p -1 validated missense c.222_221 p.W74F 1.000:1.000 "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16" "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16,HMMPfam_Peptidase_M16_C" - no_errors SLC26A6 65010 broad.mit.edu 36 3 48645960 48645960 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48645960 48645960 G T SNP SLC26A6 NM_022911 human genbank 54_36p -1 reviewed missense c.136 p.R46S 0.03 NULL "PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_Anti-sigma factor antagonist SpoIIaa,HMMPfam_STAS" - no_errors CELSR3 1951 broad.mit.edu 36 3 48661230 48661230 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48661230 48661230 C A SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.6703 p.A2235S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CELSR3 1951 broad.mit.edu 36 3 48672381 48672381 + Silent SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 48672381 48672381 C A SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed silent c.2691 p.L897 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors CELSR3 1951 broad.mit.edu 36 3 48674196 48674196 + Silent SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 48674196 48674196 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed silent c.876 p.G292 1 NULL ############################################################################################################################################################################################################################################################### - no_errors WDR6 11180 broad.mit.edu 36 3 49024648 49024648 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49024648 49024648 C T SNP WDR6 NM_018031 human genbank 54_36p 1 reviewed missense c.677 p.T226I 0.99 "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LAMB2 3913 broad.mit.edu 36 3 49136172 49136172 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49136172 49136172 C T SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed missense c.3790 p.E1264K 1 NULL "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors USP4 7375 broad.mit.edu 36 3 49312978 49312978 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49312978 49312978 G A SNP USP4 NM_003363 human genbank 54_36p -1 validated missense c.1438 p.P480S 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMSmart_SM00695,HMMPfam_DUF1055,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors BSN 8927 broad.mit.edu 36 3 49655338 49655338 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 49655338 49655338 G T SNP BSN NM_003458 human genbank 54_36p 1 validated nonsense c.1267 p.G423* 0 NULL "HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF" - no_errors BSN 8927 broad.mit.edu 36 3 49663128 49663128 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49663128 49663128 C T SNP BSN NM_003458 human genbank 54_36p 1 validated missense c.1598 p.P533L 0.95 NULL "HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF" - no_errors BSN 8927 broad.mit.edu 36 3 49675367 49675367 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 49675367 49675367 G A SNP BSN NM_003458 human genbank 54_36p 1 validated missense c.10772 p.R3591H 1 NULL "HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF" - no_errors RNF123 63891 broad.mit.edu 36 3 49726570 49726570 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 49726570 49726570 T A SNP RNF123 NM_022064 human genbank 54_36p 1 reviewed missense c.2969 p.L990Q 1 NULL "HMMPfam_SPRY,HMMSmart_SM00449,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors C3orf54 389119 broad.mit.edu 36 3 49817266 49817266 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49817266 49817266 C T SNP C3orf54 NM_203370 human genbank 54_36p 1 validated missense c.706 p.R236W 1 NULL NULL - no_errors UBA7 7318 broad.mit.edu 36 3 49826037 49826037 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49826037 49826037 A T SNP UBA7 NM_003335 human genbank 54_36p -1 reviewed missense c.104 p.V35D 1 "superfamily_MoeB,HMMPfam_ThiF" "PatternScan_UBIQUITIN_ACTIVAT_1,superfamily_MoeB,HMMPfam_ThiF,HMMPfam_UBA_e1_thiolCys,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_UBA_e1_C" - no_errors CAMKV 79012 broad.mit.edu 36 3 49873963 49873963 + Silent SNP C C T novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 49873963 49873963 C T SNP CAMKV NM_024046 human genbank 54_36p -1 validated silent c.354 p.S118 0.96 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" - no_errors MST1R 4486 broad.mit.edu 36 3 49907684 49907684 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 49907684 49907684 G C SNP MST1R NM_002447 human genbank 54_36p -1 validated missense c.3191 p.S1064C 0.01 NULL ############################################################################################################################################################################################################################################################### - no_errors MST1R 4486 broad.mit.edu 36 3 49908185 49908185 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 49908185 49908185 C A SNP MST1R NM_002447 human genbank 54_36p -1 validated missense c.2929 p.V977F 0 NULL ############################################################################################################################################################################################################################################################### - no_errors MST1R 4486 broad.mit.edu 36 3 49914844 49914844 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 49914844 49914844 G T SNP MST1R NM_002447 human genbank 54_36p -1 validated missense c.1203 p.F401L 1 "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain" ############################################################################################################################################################################################################################################################### - no_errors MON1A 84315 broad.mit.edu 36 3 49922959 49922959 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 49922959 49922959 G A SNP MON1A NM_032355 human genbank 54_36p -1 validated missense c.976 p.R326C 0.97 HMMPfam_Mon1 HMMPfam_Mon1 - no_errors MON1A 84315 broad.mit.edu 36 3 49924412 49924412 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 49924412 49924412 C T SNP MON1A NM_032355 human genbank 54_36p -1 validated missense c.164 p.R55H 1 NULL HMMPfam_Mon1 - no_errors RBM6 10180 broad.mit.edu 36 3 50070975 50070975 + Silent SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 50070975 50070975 C G SNP RBM6 NM_005777 human genbank 54_36p 1 provisional silent c.2106 p.G702 1 superfamily_SSF54928 "superfamily_SSF54928,HMMSmart_RRM,HMMSmart_ZnF_C2H2,HMMSmart_G_patch,HMMPfam_G-patch" - no_errors GNAT1 2779 broad.mit.edu 36 3 50205602 50205602 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 50205602 50205602 A C SNP GNAT1 NM_000172 human genbank 54_36p 1 reviewed missense c.139 p.K47Q 1 "superfamily_SSF52540,HMMPfam_G-alpha" "superfamily_SSF52540,HMMPfam_G-alpha,superfamily_Transducn_insert" - no_errors SLC38A3 10991 broad.mit.edu 36 3 50232512 50232512 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 50232512 50232512 C A SNP SLC38A3 ENST00000341160 human ensembl 54_36p 1 known missense c.1414 p.L472M 0.98 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors C3orf45 132228 broad.mit.edu 36 3 50299592 50299592 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 50299592 50299592 C G SNP C3orf45 NM_153215 human genbank 54_36p 1 predicted missense c.450 p.S150R 1 NULL NULL - no_errors HYAL3 8372 broad.mit.edu 36 3 50307756 50307756 + Silent SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 50307756 50307756 G T SNP HYAL3 NM_003549 human genbank 54_36p -1 reviewed silent c.282 p.G94 0.13 "HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases,PatternScan_EGF_1,PatternScan_EGF_2" - no_errors HYAL3 8372 broad.mit.edu 36 3 50307982 50307982 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 50307982 50307982 C T SNP HYAL3 NM_003549 human genbank 54_36p -1 reviewed missense c.56 p.C19Y 0 NULL "HMMPfam_Glyco_hydro_56,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_(Trans)glycosidases" - no_errors HYAL2 8692 broad.mit.edu 36 3 50332670 50332670 + Silent SNP C C G novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Broad454;Sequenom;Capture Illumina GAIIx 3 50332670 50332670 C G SNP HYAL2 NM_003773 human genbank 54_36p -1 reviewed silent c.255 p.L85 1 "HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases,PatternScan_EGF_1,PatternScan_EGF_2" - no_errors ZMYND10 51364 broad.mit.edu 36 3 50357653 50357653 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 50357653 50357653 T C SNP ZMYND10 NM_015896 human genbank 54_36p -1 validated missense c.107 p.H36R 1 NULL "HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" - no_errors MAPKAPK3 7867 broad.mit.edu 36 3 50630116 50630116 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 50630116 50630116 T G SNP MAPKAPK3 NM_004635 human genbank 54_36p 1 reviewed missense c.116 p.V39G 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DOCK3 1795 broad.mit.edu 36 3 51102713 51102713 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 51102713 51102713 C T SNP DOCK3 NM_004947 human genbank 54_36p 1 validated missense c.604 p.R202C 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_Ded_cyto" - no_errors DOCK3 1795 broad.mit.edu 36 3 51374417 51374417 + Silent SNP G G C novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 51374417 51374417 G C SNP DOCK3 NM_004947 human genbank 54_36p 1 validated silent c.5094 p.L1698 1 NULL "superfamily_SH3-domain,HMMPfam_Ded_cyto,HMMPfam_SH3_2" - no_errors DOCK3 1795 broad.mit.edu 36 3 51375143 51375143 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 51375143 51375143 G A SNP DOCK3 NM_004947 human genbank 54_36p 1 validated missense c.5291 p.R1764Q 1 NULL "superfamily_SH3-domain,HMMPfam_Ded_cyto,HMMPfam_SH3_2" - no_errors MANF 7873 broad.mit.edu 36 3 51401519 51401519 + Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 51401519 51401519 A C SNP ARMET NM_006010 human genbank 54_36p 1 reviewed missense c.517 p.K173Q 1 HMMPfam_Armet HMMPfam_Armet - no_start_codon VPRBP 9730 broad.mit.edu 36 3 51492812 51492812 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 51492812 51492812 G A SNP VPRBP ENST00000273612 human ensembl 54_36p -1 known missense c.73 p.H25Y 1 NULL "superfamily_ARM repeat,HMMSmart_SM00667,HMMPfam_LisH,superfamily_WD40 repeat-like" - no_errors RAD54L2 23132 broad.mit.edu 36 3 51638464 51638464 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 51638464 51638464 G A SNP RAD54L2 NM_015106 human genbank 54_36p 1 validated missense c.92 p.R31H 1 NULL "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors RAD54L2 23132 broad.mit.edu 36 3 51639823 51639823 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 51639823 51639823 G T SNP RAD54L2 NM_015106 human genbank 54_36p 1 validated missense c.337 p.V113F 1 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors IQCF3 401067 broad.mit.edu 36 3 51839526 51839526 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 51839526 51839526 G A SNP IQCF3 NM_001085479 human genbank 54_36p 1 provisional missense c.134 p.R45H 0.79 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" - no_errors RRP9 9136 broad.mit.edu 36 3 51950503 51950503 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 51950503 51950503 C A SNP RRP9 NM_004704 human genbank 54_36p -1 provisional missense c.132 p.K44N 0.99 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors DUSP7 1849 broad.mit.edu 36 3 52059944 52059944 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 3 52059944 52059944 G A SNP DUSP7 NM_001947 human genbank 54_36p -1 provisional missense c.1034 p.S345L 0.99 NULL "HMMSmart_SM00450,HMMPfam_Rhodanese,superfamily_Rhodanese/Cell cycle control phosphatase,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195" - no_errors WDR82 80335 broad.mit.edu 36 3 52270475 52270475 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52270475 52270475 C G SNP WDR82 NM_025222 human genbank 54_36p -1 validated missense c.387 p.K129N 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors DNAH1 25981 broad.mit.edu 36 3 52332863 52332863 + Splice_Site SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52332863 52332863 G A SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known splice_site c.334-1 e2-1 1 - - - no_errors DNAH1 25981 broad.mit.edu 36 3 52361049 52361049 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52361049 52361049 C A SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known missense c.2761 p.L921I 0.15 NULL "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH1 25981 broad.mit.edu 36 3 52369044 52369044 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52369044 52369044 G T SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known missense c.4480 p.V1494F 0.97 NULL "HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH1 25981 broad.mit.edu 36 3 52378894 52378894 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52378894 52378894 T C SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known missense c.5957 p.M1986T 1 "HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH1 25981 broad.mit.edu 36 3 52398530 52398530 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52398530 52398530 C T SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known missense c.9701 p.T3234M 0.03 NULL "HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH1 25981 broad.mit.edu 36 3 52405674 52405674 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52405674 52405674 G A SNP DNAH1 ENST00000273600 human ensembl 54_36p 1 known missense c.11623 p.V3875M 0.67 HMMPfam_Dynein_heavy "HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors BAP1 8314 broad.mit.edu 36 3 52415413 52415413 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52415413 52415413 G A SNP BAP1 NM_004656 human genbank 54_36p -1 reviewed missense c.679 p.R227C 1 superfamily_Cysteine proteinases "HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases" - no_errors SEMA3G 56920 broad.mit.edu 36 3 52447095 52447095 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52447095 52447095 C T SNP SEMA3G NM_020163 human genbank 54_36p -1 provisional missense c.1670 p.R557H 1 "HMMSmart_PSI,superfamily_Plexin-like_fold" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG" - no_errors SEMA3G 56920 broad.mit.edu 36 3 52450445 52450445 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52450445 52450445 C T SNP SEMA3G NM_020163 human genbank 54_36p -1 provisional missense c.688 p.A230T 0 "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema" "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726" - no_errors NISCH 11188 broad.mit.edu 36 3 52499841 52499841 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52499841 52499841 C A SNP NISCH NM_007184 human genbank 54_36p 1 validated missense c.3694 p.L1232M 1 NULL "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1,PatternScan_CYTOCHROME_P450" - no_errors NISCH 11188 broad.mit.edu 36 3 52501058 52501058 + Silent SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52501058 52501058 C G SNP NISCH NM_007184 human genbank 54_36p 1 validated silent c.4035 p.L1345 1 NULL "HMMPfam_LRR_1,HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,PatternScan_CYTOCHROME_P450,HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1" - no_errors STAB1 23166 broad.mit.edu 36 3 52513844 52513844 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52513844 52513844 A G SNP STAB1 NM_015136 human genbank 54_36p 1 reviewed missense c.1289 p.H430R 0.98 "superfamily_FAS1 domain,HMMSmart_SM00554" ############################################################################################################################################################################################################################################################### - no_errors SPCS1 28972 broad.mit.edu 36 3 52715333 52715333 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52715333 52715333 C A SNP SPCS1 NM_014041 human genbank 54_36p 1 validated missense c.31 p.Q11K 1 NULL HMMPfam_SPC12 - no_errors ITIH1 3697 broad.mit.edu 36 3 52787494 52787494 + Silent SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52787494 52787494 C A SNP ITIH1 NM_002215 human genbank 54_36p 1 validated silent c.237 p.A79 0 "HMMSmart_SM00609,HMMPfam_VIT" "HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors ITIH1 3697 broad.mit.edu 36 3 52789409 52789409 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52789409 52789409 A T SNP ITIH1 NM_002215 human genbank 54_36p 1 validated missense c.658 p.T220S 0 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00609,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_vWA-like" - no_errors ITIH1 3697 broad.mit.edu 36 3 52797288 52797288 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 52797288 52797288 T A SNP ITIH1 NM_002215 human genbank 54_36p 1 validated missense c.2006 p.V669E 1 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00609,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_vWA-like" - no_errors ITIH3 3699 broad.mit.edu 36 3 52803899 52803899 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 52803899 52803899 C T SNP ITIH3 NM_002217 human genbank 54_36p 1 validated missense c.40 p.L14F 1 NULL "HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors CACNA1D 776 broad.mit.edu 36 3 53506497 53506497 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 53506497 53506497 C T SNP CACNA1D NM_000720 human genbank 54_36p 1 validated nonsense c.346 p.R116* 1 superfamily_SSF81324 "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1D 776 broad.mit.edu 36 3 53728820 53728820 + Splice_Site SNP A A G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 53728820 53728820 A G SNP CACNA1D NM_000720 human genbank 54_36p 1 validated splice_site c.1539-2 e12-2 1 - - - no_errors CACNA1D 776 broad.mit.edu 36 3 53810348 53810348 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 53810348 53810348 A C SNP CACNA1D NM_000720 human genbank 54_36p 1 validated missense c.5324 p.N1775T 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324" - no_errors CHDH 55349 broad.mit.edu 36 3 53827088 53827089 + Frame_Shift_Del DEL CA - CA novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D CA CA - - CA CA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 53827088 53827089 CA - DEL CHDH NM_018397 human genbank 54_36p -1 validated frame_shift_del c.1541_1540 p.C514fs 1.000:1.000 "superfamily_SSF51905,superfamily_SSF54373,HMMPfam_GMC_oxred_C" "superfamily_SSF51905,HMMPfam_GMC_oxred_N,PatternScan_GMC_OXRED_1,PatternScan_GMC_OXRED_2,superfamily_SSF54373,HMMPfam_GMC_oxred_C" "(deletion:cds_exon[53826844,53827262])" no_errors CHDH 55349 broad.mit.edu 36 3 53827159 53827159 + Silent SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 53827159 53827159 G A SNP CHDH NM_018397 human genbank 54_36p -1 validated silent c.1470 p.S490 0.94 "superfamily_SSF51905,superfamily_SSF54373,HMMPfam_GMC_oxred_C" "superfamily_SSF51905,HMMPfam_GMC_oxred_N,PatternScan_GMC_OXRED_1,PatternScan_GMC_OXRED_2,superfamily_SSF54373,HMMPfam_GMC_oxred_C" - no_errors IL17RB 55540 broad.mit.edu 36 3 53857734 53857734 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 53857734 53857734 G A SNP IL17RB NM_018725 human genbank 54_36p 1 reviewed missense c.64 p.V22I 0.93 NULL HMMPfam_SEFIR - no_errors C3orf63 23272 broad.mit.edu 36 3 56642224 56642224 + Nonsense_Mutation SNP A A T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 56642224 56642224 A T SNP C3orf63 NM_015224 human genbank 54_36p -1 validated nonsense c.2324 p.L775* 1 NULL NULL - no_errors C3orf63 23272 broad.mit.edu 36 3 56642329 56642329 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 56642329 56642329 A G SNP C3orf63 NM_015224 human genbank 54_36p -1 validated missense c.2219 p.I740T 0.96 NULL NULL - no_errors ARHGEF3 50650 broad.mit.edu 36 3 56746316 56746316 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 56746316 56746316 G C SNP ARHGEF3 NM_019555 human genbank 54_36p -1 reviewed missense c.978 p.D326E 0.68 "superfamily_DBL homology domain (DH-domain),HMMSmart_SM00233,superfamily_PH domain-like" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_PH" - no_errors DNAH12 201625 broad.mit.edu 36 3 57484582 57484582 + Silent SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 57484582 57484582 A G SNP DNAH12L ENST00000311202 human ensembl 54_36p -1 known silent c.240 p.D80 0.42 NULL NULL - no_errors FAM116A 201627 broad.mit.edu 36 3 57622228 57622228 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 57622228 57622228 G C SNP FAM116A NM_152678 human genbank 54_36p -1 validated missense c.604 p.P202A 1 HMMPfam_DUF1630 HMMPfam_DUF1630 - no_errors FLNB 2317 broad.mit.edu 36 3 58072963 58072963 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 58072963 58072963 G C SNP FLNB NM_001457 human genbank 54_36p 1 validated missense c.2623 p.A875P 1 "superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN" - no_errors PTPRG 5793 broad.mit.edu 36 3 61523076 61523097 + Splice_Site DEL GTGCTTCCCCGGTGAGTGCCGG - GTGCTTCCCCGGTGAGTGCCGG novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D GTGCTTCCCCGGTGAGTGCCGG GTGCTTCCCCGGTGAGTGCCGG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 61523076 61523097 GTGCTTCCCCGGTGAGTGCCGG - DEL PTPRG NM_002841 human genbank 54_36p 1 reviewed splice_site_del c.75_85 p.C26fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000 NULL "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" "(deletion:cds_exon[61523002,61523086], intron[61523087,61709591])" no_errors PTPRG 5793 broad.mit.edu 36 3 62164144 62164144 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 62164144 62164144 C G SNP PTPRG NM_002841 human genbank 54_36p 1 reviewed missense c.1635 p.S545R 0.99 NULL "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRG 5793 broad.mit.edu 36 3 62164218 62164218 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 62164218 62164218 C T SNP PTPRG NM_002841 human genbank 54_36p 1 reviewed missense c.1709 p.P570L 0.01 NULL "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors PTPRG 5793 broad.mit.edu 36 3 62164618 62164618 + Silent SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 62164618 62164618 C T SNP PTPRG NM_002841 human genbank 54_36p 1 reviewed silent c.2109 p.R703 0.93 NULL "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors CADPS 8618 broad.mit.edu 36 3 62474372 62474372 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 62474372 62474372 T G SNP CADPS NM_183394 human genbank 54_36p -1 reviewed missense c.2631 p.Q877H 1 HMMPfam_DUF1041 "HMMSmart_C2,HMMPfam_C2,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_DUF1041" - no_errors CADPS 8618 broad.mit.edu 36 3 62493715 62493715 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 62493715 62493715 A T SNP CADPS NM_003716 human genbank 54_36p -1 reviewed missense c.2162 p.V721D 1 NULL "HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041" - no_errors CADPS 8618 broad.mit.edu 36 3 62714458 62714459 + Missense_Mutation DNP TG TG CA novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 62714458 62714459 TG CA DNP CADPS NM_003716 human genbank 54_36p -1 reviewed missense c.586_585 p.M196V 1.000:0.978 NULL "HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like" - no_errors SNTN 132203 broad.mit.edu 36 3 63624748 63624748 + Silent SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 63624748 63624748 C A SNP SNTN NM_001080537 human genbank 54_36p 1 provisional silent c.381 p.L127 0.93 superfamily_SSF47473 superfamily_SSF47473 - no_errors PRICKLE2 166336 broad.mit.edu 36 3 64060310 64060310 + Silent SNP G G T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 64060310 64060310 G T SNP PRICKLE2 NM_198859 human genbank 54_36p -1 validated silent c.1992 p.P664 0.99 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors MAGI1 9223 broad.mit.edu 36 3 65317511 65317511 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 65317511 65317511 T A SNP MAGI1 NM_001033057 human genbank 54_36p -1 reviewed missense c.3971 p.E1324V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LRIG1 26018 broad.mit.edu 36 3 66513795 66513795 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 66513795 66513795 G T SNP LRIG1 NM_015541 human genbank 54_36p -1 validated missense c.2951 p.A984D 0 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors KBTBD8 84541 broad.mit.edu 36 3 67136980 67136980 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 67136980 67136980 A G SNP KBTBD8 NM_032505 human genbank 54_36p 1 provisional missense c.821 p.K274R 1 superfamily_Galactose oxidase central domain "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors FAM19A1 407738 broad.mit.edu 36 3 68549253 68549253 + Silent SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 68549253 68549253 C T SNP FAM19A1 NM_213609 human genbank 54_36p 1 reviewed silent c.252 p.C84 1 NULL NULL - no_errors C3orf64 285203 broad.mit.edu 36 3 69140344 69140344 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 69140344 69140344 C T SNP C3orf64 NM_173654 human genbank 54_36p -1 provisional missense c.236 p.C79Y 1 NULL "HMMPfam_DUF563,PatternScan_ER_TARGET" - no_errors UBA3 9039 broad.mit.edu 36 3 69193968 69193968 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 69193968 69193968 C T SNP UBA3 NM_003968 human genbank 54_36p -1 reviewed missense c.746 p.C249Y 1 superfamily_Activating enzymes of the ubiquitin-like proteins "superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_E2_bind" - no_errors ARL6IP5 10550 broad.mit.edu 36 3 69236363 69236363 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 69236363 69236363 A C SNP ARL6IP5 NM_006407 human genbank 54_36p 1 reviewed missense c.453 p.K151N 1 HMMPfam_PRA1 HMMPfam_PRA1 - no_errors LMOD3 56203 broad.mit.edu 36 3 69240939 69240939 + Silent SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 69240939 69240939 C T SNP LMOD3 NM_198271 human genbank 54_36p -1 validated silent c.1680 p.A560 0.65 NULL "HMMPfam_Tropomodulin,superfamily_RNI-like,HMMPfam_WH2" - no_errors MITF 4286 broad.mit.edu 36 3 70091212 70091212 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 70091212 70091212 G T SNP MITF NM_198159 human genbank 54_36p 1 reviewed missense c.1112 p.R371L 1 superfamily_HLH_basic "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors MITF 4286 broad.mit.edu 36 3 70096797 70096797 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 70096797 70096797 A C SNP MITF NM_198159 human genbank 54_36p 1 reviewed missense c.1271 p.N424T 1 NULL "HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic" - no_errors GPR27 2850 broad.mit.edu 36 3 71886766 71886766 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 71886766 71886766 C T SNP GPR27 NM_018971 human genbank 54_36p 1 provisional silent c.876 p.L292 0.93 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors SHQ1 55164 broad.mit.edu 36 3 72964217 72964217 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 72964217 72964217 G T SNP SHQ1 NM_018130 human genbank 54_36p -1 validated missense c.592 p.H198N 1 NULL "superfamily_HSP20_chap,HMMPfam_CS,HMMPfam_SHQ1" - no_errors FLJ10213 55096 broad.mit.edu 36 3 73194204 73194204 + Silent SNP A A G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 73194204 73194204 A G SNP FLJ10213 NM_018029 human genbank 54_36p 1 predicted silent c.282 p.Q94 0.01 "HMMPfam_BDV_P40,superfamily_P40_nucleoprot_BD-vir" "HMMPfam_BDV_P40,superfamily_P40_nucleoprot_BD-vir" - no_errors PDZRN3 23024 broad.mit.edu 36 3 73515603 73515603 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 73515603 73515603 T C SNP PDZRN3 NM_015009 human genbank 54_36p -1 provisional missense c.2804 p.K935R 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors PDZRN3 23024 broad.mit.edu 36 3 73516624 73516640 + Frame_Shift_Del DEL CGGTGGCGTCGTCGCCA - CGGTGGCGTCGTCGCCA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CGGTGGCGTCGTCGCCA CGGTGGCGTCGTCGCCA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 73516624 73516640 CGGTGGCGTCGTCGCCA - DEL PDZRN3 NM_015009 human genbank 54_36p -1 provisional frame_shift_del c.1783_1767 p.G590fs 0.052:0.011:0.938:0.987:0.992:1.000:1.000:0.986:1.000:1.000:0.998:1.000:0.996:0.413:0.446:0.946:0.945 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "(deletion:cds_exon[73515206,73516771])" no_errors PDZRN3 23024 broad.mit.edu 36 3 73517521 73517521 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 73517521 73517521 C G SNP PDZRN3 NM_015009 human genbank 54_36p -1 provisional missense c.1624 p.V542L 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00184,superfamily_TRAF domain-like,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors CNTN3 5067 broad.mit.edu 36 3 74429864 74429864 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 74429864 74429864 C G SNP CNTN3 NM_020872 human genbank 54_36p -1 validated missense c.2335 p.G779R 1 "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors FRG2C 100288801 broad.mit.edu 36 3 75797676 75797676 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 75797676 75797676 C T SNP FRG2C ENST00000308062 human ensembl 54_36p 1 known missense c.643 p.R215W 0.43 NULL NULL - no_errors ZNF717 401074 broad.mit.edu 36 3 75869508 75869516 + Intron DEL ACATTCATT - ACATTCATT novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 ACATTCATT ACATTCATT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 75869508 75869516 ACATTCATT - DEL LOC401074 XM_001714392 human genbank 54_36p 1 model intronic c.961-2926_961-2918 e4-2918 0.996:0.997:0.958:0.251:0.222:0.116:0.000:0.001:0.007 - - "(deletion:intron[75804611,75872433])" no_errors ROBO2 6092 broad.mit.edu 36 3 77682761 77682761 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 77682761 77682761 T A SNP ROBO2 NM_002942 human genbank 54_36p 1 reviewed missense c.1162 p.Y388N 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ROBO2 6092 broad.mit.edu 36 3 77734114 77734114 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 3 77734114 77734114 T A SNP ROBO2 NM_002942 human genbank 54_36p 1 reviewed missense c.2918 p.I973N 1 NULL "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors ROBO1 6091 broad.mit.edu 36 3 78732069 78732069 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 78732069 78732069 A T SNP ROBO1 NM_002941 human genbank 54_36p -1 reviewed missense c.4825 p.S1609T 1 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors GBE1 2632 broad.mit.edu 36 3 81668842 81668842 + Silent SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 81668842 81668842 G A SNP GBE1 NM_000158 human genbank 54_36p -1 reviewed silent c.1713 p.D571 1 superfamily_(Trans)glycosidases "superfamily_E set domains,HMMPfam_CBM_48,superfamily_(Trans)glycosidases,HMMSmart_SM00642,HMMPfam_Alpha-amylase,superfamily_Glycosyl hydrolase domain,HMMPfam_Alpha-amylase_C" - no_errors HTR1F 3355 broad.mit.edu 36 3 88123278 88123278 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 88123278 88123278 T A SNP HTR1F NM_000866 human genbank 54_36p 1 validated missense c.689 p.L230H 0.9 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF654 55279 broad.mit.edu 36 3 88271320 88271320 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 88271320 88271320 C T SNP ZNF654 NM_018293 human genbank 54_36p 1 validated missense c.170 p.A57V 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF654 55279 broad.mit.edu 36 3 88271555 88271555 + Silent SNP T T C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 88271555 88271555 T C SNP ZNF654 NM_018293 human genbank 54_36p 1 validated silent c.405 p.P135 0 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors EPHA3 2042 broad.mit.edu 36 3 89539205 89539205 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 89539205 89539205 T A SNP EPHA3 NM_005233 human genbank 54_36p 1 reviewed missense c.1691 p.I564N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PROS1 5627 broad.mit.edu 36 3 95094613 95094613 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 95094613 95094613 C T SNP PROS1 NM_000313 human genbank 54_36p -1 reviewed missense c.1009 p.V337M 0.85 "superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1" ############################################################################################################################################################################################################################################################### - no_errors ARL13B 200894 broad.mit.edu 36 3 95205197 95205197 + Silent SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 95205197 95205197 C T SNP ARL13B NM_182896 human genbank 54_36p 1 validated silent c.135 p.Y45 0.52 "HMMPfam_Arf,HMMSmart_SM00177,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Arf,HMMSmart_SM00177,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors EPHA6 285220 broad.mit.edu 36 3 98794229 98794229 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 98794229 98794229 C T SNP EPHA6 NM_001080448 human genbank 54_36p 1 provisional missense c.2470 p.P824S 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors GABRR3 200959 broad.mit.edu 36 3 99214060 99214060 + Silent SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 99214060 99214060 G A SNP GABRR3 NM_001105580 human genbank 54_36p -1 provisional silent c.348 p.D116 1 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - pseudogene OR5H1 26341 broad.mit.edu 36 3 99335088 99335088 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 99335088 99335088 A T SNP OR5H1 NM_001005338 human genbank 54_36p 1 provisional missense c.857 p.N286I 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5H2 79310 broad.mit.edu 36 3 99484483 99484483 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 99484483 99484483 G A SNP OR5H2 NM_001005482 human genbank 54_36p 1 provisional missense c.62 p.G21E 0.98 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5H2 79310 broad.mit.edu 36 3 99484578 99484578 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 99484578 99484578 C T SNP OR5H2 NM_001005482 human genbank 54_36p 1 provisional missense c.157 p.L53F 0.03 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors CLDND1 56650 broad.mit.edu 36 3 99718361 99718361 + Silent SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 99718361 99718361 G C SNP CLDND1 NM_001040182 human genbank 54_36p -1 validated silent c.663 p.L221 0.99 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors GPR15 2838 broad.mit.edu 36 3 99734580 99734580 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 99734580 99734580 C A SNP GPR15 NM_005290 human genbank 54_36p 1 provisional missense c.1013 p.T338N 0.74 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CPOX 1371 broad.mit.edu 36 3 99792569 99792569 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 99792569 99792569 C A SNP CPOX NM_000097 human genbank 54_36p -1 validated missense c.677 p.G226V 1 "superfamily_Coprogen_oxidas,HMMPfam_Coprogen_oxidas" "superfamily_Coprogen_oxidas,HMMPfam_Coprogen_oxidas,PatternScan_COPROGEN_OXIDASE" - no_errors ST3GAL6 10402 broad.mit.edu 36 3 99993426 99993426 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 99993426 99993426 A G SNP ST3GAL6 NM_006100 human genbank 54_36p 1 provisional missense c.808 p.I270V 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors DCBLD2 131566 broad.mit.edu 36 3 100014013 100014013 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 100014013 100014013 A G SNP DCBLD2 NM_080927 human genbank 54_36p -1 validated missense c.1216 p.F406L 1 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1" - no_errors FILIP1L 11259 broad.mit.edu 36 3 101050745 101050745 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 101050745 101050745 A G SNP FILIP1L NM_182909 human genbank 54_36p -1 validated missense c.2465 p.V822A 0.99 NULL "HMMPfam_CortBP2,superfamily_Prefoldin" - no_errors C3orf26 84319 broad.mit.edu 36 3 101363911 101363911 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 101363911 101363911 G C SNP C3orf26 NM_032359 human genbank 54_36p 1 predicted missense c.300 p.K100N 0.05 NULL superfamily_SSF52540 - no_errors TBC1D23 55773 broad.mit.edu 36 3 101503764 101503764 + Missense_Mutation SNP T T G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 101503764 101503764 T G SNP TBC1D23 NM_018309 human genbank 54_36p 1 validated missense c.1256 p.F419C 1 superfamily_Rhodanese/Cell cycle control phosphatase "HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,superfamily_Rhodanese/Cell cycle control phosphatase" - no_errors NIT2 56954 broad.mit.edu 36 3 101554014 101554014 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 101554014 101554014 C T SNP NIT2 NM_020202 human genbank 54_36p 1 validated missense c.661 p.H221Y 1 superfamily_Ntlse/CNhydtse "PatternScan_UPF0012,superfamily_Ntlse/CNhydtse,HMMPfam_CN_hydrolase" - no_errors TMEM45A 55076 broad.mit.edu 36 3 101770431 101770431 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 101770431 101770431 A T SNP TMEM45A NM_018004 human genbank 54_36p 1 provisional missense c.664 p.T222S 1 HMMPfam_DUF716 HMMPfam_DUF716 - no_errors SENP7 57337 broad.mit.edu 36 3 102533628 102533628 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 102533628 102533628 G A SNP SENP7 NM_020654 human genbank 54_36p -1 validated silent c.2589 p.L863 1 "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48" "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48" - no_errors CEP97 79598 broad.mit.edu 36 3 102959275 102959275 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 102959275 102959275 C T SNP CEP97 NM_024548 human genbank 54_36p 1 provisional nonsense c.1135 p.R379* 0.88 NULL "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMPfam_IQ" - no_errors FAM55C 91775 broad.mit.edu 36 3 103023042 103023042 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 103023042 103023042 A G SNP FAM55C NM_145037 human genbank 54_36p 1 validated missense c.1234 p.I412V 1 NULL "HMMPfam_Neurexophilin,superfamily_E set domains" - no_errors NFKBIZ 64332 broad.mit.edu 36 3 103057327 103057327 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 103057327 103057327 G A SNP NFKBIZ NM_031419 human genbank 54_36p 1 reviewed missense c.1715 p.R572K 0.15 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors ZPLD1 131368 broad.mit.edu 36 3 103670597 103670597 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 103670597 103670597 G A SNP ZPLD1 NM_175056 human genbank 54_36p 1 provisional silent c.909 p.Q303 1 "HMMPfam_Zona_pellucida,HMMSmart_ZP" "HMMPfam_Zona_pellucida,HMMSmart_ZP" - no_errors ALCAM 214 broad.mit.edu 36 3 106749006 106749006 + Silent SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 106749006 106749006 A G SNP ALCAM NM_001627 human genbank 54_36p 1 validated silent c.1323 p.P441 1 "superfamily_Immunoglobulin,HMMSmart_SM00408" "HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors CBLB 868 broad.mit.edu 36 3 106883277 106883277 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 106883277 106883277 G C SNP CBLB NM_170662 human genbank 54_36p -1 validated missense c.2277 p.D759E 0.77 NULL "HMMPfam_Cbl_N,superfamily_N-terminal domain of cbl (N-cbl),HMMPfam_Cbl_N2,superfamily_EF-hand,HMMPfam_Cbl_N3,superfamily_SH2 domain,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_UBA,HMMSmart_SM00165" - no_errors BBX 56987 broad.mit.edu 36 3 108974571 108974571 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 108974571 108974571 T C SNP BBX NM_020235 human genbank 54_36p 1 validated missense c.1313 p.I438T 0.32 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box,HMMPfam_DUF2028" - no_errors BBX 56987 broad.mit.edu 36 3 108979967 108979967 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 108979967 108979967 C T SNP BBX NM_020235 human genbank 54_36p 1 validated missense c.2114 p.P705L 1 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box,HMMPfam_DUF2028" - no_errors BBX 56987 broad.mit.edu 36 3 108992784 108992784 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 108992784 108992784 G T SNP BBX ENST00000402163 human ensembl 54_36p 1 known missense c.1292 p.G431V 1 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box,HMMPfam_DUF2028" - no_errors CD47 961 broad.mit.edu 36 3 109281704 109281704 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 109281704 109281704 G C SNP CD47 NM_001777 human genbank 54_36p -1 reviewed missense c.224 p.S75C 0 HMMPfam_V-set_CD47 "HMMPfam_V-set_CD47,HMMPfam_CD47" - no_errors HHLA2 11148 broad.mit.edu 36 3 109559411 109559411 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 109559411 109559411 T A SNP HHLA2 NM_007072 human genbank 54_36p 1 provisional missense c.716 p.V239D 0.56 "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_C1-set" - no_errors MYH15 22989 broad.mit.edu 36 3 109688052 109688052 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 109688052 109688052 C T SNP MYH15 NM_014981 human genbank 54_36p -1 validated missense c.943 p.V315I 0.94 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIAA1524 57650 broad.mit.edu 36 3 109753800 109753800 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 109753800 109753800 C T SNP KIAA1524 NM_020890 human genbank 54_36p -1 validated missense c.2518 p.E840K 1 NULL superfamily_ARM repeat - no_errors KIAA1524 57650 broad.mit.edu 36 3 109764708 109764708 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 109764708 109764708 C G SNP KIAA1524 NM_020890 human genbank 54_36p -1 validated missense c.1589 p.R530T 0.97 NULL superfamily_ARM repeat - no_errors MORC1 27136 broad.mit.edu 36 3 110305385 110305385 + Splice_Site SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 110305385 110305385 C A SNP MORC1 NM_014429 human genbank 54_36p -1 reviewed splice_site c.223+1 e4+1 1 - - - no_errors PHLDB2 90102 broad.mit.edu 36 3 113086296 113086296 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 113086296 113086296 G A SNP PHLDB2 NM_145753 human genbank 54_36p 1 validated missense c.682 p.E228K 0.37 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors PHLDB2 90102 broad.mit.edu 36 3 113155478 113155478 + Silent SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 113155478 113155478 C A SNP PHLDB2 NM_145753 human genbank 54_36p 1 validated silent c.2655 p.P885 0.95 NULL "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors PHLDB2 90102 broad.mit.edu 36 3 113176058 113176058 + Silent SNP T T C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 113176058 113176058 T C SNP PHLDB2 NM_145753 human genbank 54_36p 1 validated silent c.3591 p.V1197 0.96 "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors TMPRSS7 344805 broad.mit.edu 36 3 113278420 113278420 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 113278420 113278420 G C SNP TMPRSS7 NM_001042575 human genbank 54_36p 1 validated missense c.1150 p.D384H 1 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors SLC9A10 285335 broad.mit.edu 36 3 113370775 113370775 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 113370775 113370775 C T SNP SLC9A10 NM_183061 human genbank 54_36p -1 validated missense c.3010 p.A1004T 0.52 superfamily_cAMP-binding domain-like "HMMPfam_Na_H_Exchanger,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_WD_REPEATS_1,superfamily_cAMP-binding domain-like,HMMPfam_cNMP_binding" - no_errors SLC9A10 285335 broad.mit.edu 36 3 113480376 113480376 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 113480376 113480376 C T SNP SLC9A10 NM_183061 human genbank 54_36p -1 validated missense c.208 p.A70T 0.88 HMMPfam_Na_H_Exchanger "HMMPfam_cNMP_binding,HMMPfam_Ion_trans,HMMPfam_Na_H_Exchanger,superfamily_cAMP-binding domain-like,PatternScan_WD_REPEATS_1,superfamily_Voltage-gated potassium channels" - no_errors CCDC80 151887 broad.mit.edu 36 3 113840321 113840321 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 113840321 113840321 T A SNP CCDC80 NM_199511 human genbank 54_36p -1 validated missense c.1122 p.R374S 1 NULL NULL - no_errors CD200R1 131450 broad.mit.edu 36 3 114131015 114131015 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 114131015 114131015 T C SNP CD200R1 NM_138806 human genbank 54_36p -1 reviewed missense c.232 p.T78A 0 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_C2-set_2" - no_errors BOC 91653 broad.mit.edu 36 3 114452142 114452142 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 114452142 114452142 G A SNP BOC NM_033254 human genbank 54_36p 1 validated missense c.148 p.G50R 1 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_N6_MTASE,PatternScan_CYTOCHROME_P450" - no_errors SPICE1 152185 broad.mit.edu 36 3 114670383 114670383 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 114670383 114670383 C T SNP CCDC52 NM_144718 human genbank 54_36p -1 validated missense c.805 p.E269K 1 NULL NULL - no_errors SIDT1 54847 broad.mit.edu 36 3 114809700 114809700 + Silent SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 114809700 114809700 G A SNP SIDT1 NM_017699 human genbank 54_36p 1 validated silent c.1548 p.L516 1 NULL NULL - no_errors KIAA2018 205717 broad.mit.edu 36 3 114859445 114859445 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 114859445 114859445 C T SNP KIAA2018 NM_001009899 human genbank 54_36p -1 validated silent c.3774 p.A1258 0 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors KIAA2018 205717 broad.mit.edu 36 3 114860013 114860013 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 114860013 114860013 G A SNP KIAA2018 NM_001009899 human genbank 54_36p -1 validated missense c.3206 p.P1069L 0.97 NULL "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" - no_errors KIAA2018 205717 broad.mit.edu 36 3 114861540 114861540 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 114861540 114861540 G T SNP KIAA2018 NM_001009899 human genbank 54_36p -1 validated missense c.1679 p.T560N 0.98 NULL "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" - no_errors KIAA2018 205717 broad.mit.edu 36 3 114862666 114862666 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 114862666 114862666 G C SNP KIAA2018 NM_001009899 human genbank 54_36p -1 validated missense c.553 p.P185A 1 NULL "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" - no_errors ATP6V1A 523 broad.mit.edu 36 3 114980320 114980320 + Silent SNP C C G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 114980320 114980320 C G SNP ATP6V1A NM_001690 human genbank 54_36p 1 reviewed silent c.30 p.L10 0.87 NULL ############################################################################################################################################################################################################################################################### - no_errors ATP6V1A 523 broad.mit.edu 36 3 114999971 114999971 + Silent SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 114999971 114999971 G A SNP ATP6V1A NM_001690 human genbank 54_36p 1 reviewed silent c.1482 p.Q494 1 "HMMPfam_ATP-synt_ab_C,superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase" ############################################################################################################################################################################################################################################################### - no_errors GRAMD1C 54762 broad.mit.edu 36 3 115105755 115105755 + Silent SNP A A G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 115105755 115105755 A G SNP GRAMD1C NM_017577 human genbank 54_36p 1 validated silent c.735 p.E245 0.25 NULL "HMMPfam_GRAM,HMMSmart_SM00568" - no_errors GRAMD1C 54762 broad.mit.edu 36 3 115117258 115117258 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 115117258 115117258 C G SNP GRAMD1C NM_017577 human genbank 54_36p 1 validated missense c.973 p.L325V 1 NULL "HMMPfam_GRAM,HMMSmart_SM00568" - no_errors ZNF80 7634 broad.mit.edu 36 3 115438209 115438209 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 115438209 115438209 A C SNP ZNF80 NM_007136 human genbank 54_36p -1 validated missense c.403 p.C135G 0.04 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF80 7634 broad.mit.edu 36 3 115438336 115438336 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 115438336 115438336 G A SNP ZNF80 NM_007136 human genbank 54_36p -1 validated silent c.276 p.F92 0 "HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZBTB20 26137 broad.mit.edu 36 3 115552582 115552582 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 115552582 115552582 C G SNP ZBTB20 NM_015642 human genbank 54_36p -1 provisional missense c.814 p.V272L 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZBTB20 26137 broad.mit.edu 36 3 115552819 115552819 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 115552819 115552819 C T SNP ZBTB20 NM_015642 human genbank 54_36p -1 provisional missense c.577 p.V193M 0.79 NULL "HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors C3orf30 152405 broad.mit.edu 36 3 120347988 120347988 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 120347988 120347988 G T SNP C3orf30 NM_152539 human genbank 54_36p 1 predicted missense c.262 p.G88C 0.02 NULL NULL - no_errors ARHGAP31 57514 broad.mit.edu 36 3 120595050 120595050 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 120595050 120595050 C T SNP CDGAP NM_020754 human genbank 54_36p 1 reviewed silent c.928 p.L310 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors CD80 941 broad.mit.edu 36 3 120738700 120738700 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 120738700 120738700 A T SNP CD80 NM_005191 human genbank 54_36p -1 validated missense c.674 p.V225E 0.09 "superfamily_Immunoglobulin,HMMPfam_C2-set_2" "HMMSmart_SM00409,superfamily_Immunoglobulin,HMMPfam_V-set,HMMPfam_C2-set_2" - no_errors C3orf15 89876 broad.mit.edu 36 3 120917218 120917218 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 120917218 120917218 C T SNP C3orf15 NM_033364 human genbank 54_36p 1 validated missense c.620 p.A207V 1 NULL NULL - no_errors C3orf15 89876 broad.mit.edu 36 3 120948797 120948797 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 120948797 120948797 G A SNP C3orf15 NM_033364 human genbank 54_36p 1 validated missense c.2048 p.S683N 0.15 NULL NULL - no_errors GSK3B 2932 broad.mit.edu 36 3 121148808 121148808 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 121148808 121148808 C G SNP GSK3B NM_002093 human genbank 54_36p -1 provisional missense c.363 p.E121D 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GPR156 165829 broad.mit.edu 36 3 121375008 121375008 + Splice_Site SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 121375008 121375008 C T SNP GPR156 NM_153002 human genbank 54_36p -1 provisional splice_site c.934-1 e8-1 1 - - - no_errors GTF2E1 2960 broad.mit.edu 36 3 121972336 121972336 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 121972336 121972336 C T SNP GTF2E1 NM_005513 human genbank 54_36p 1 validated missense c.520 p.R174C 1 "HMMPfam_TFIIE_alpha,HMMSmart_TFIIE" "HMMPfam_TFIIE_alpha,HMMSmart_TFIIE" - no_errors STXBP5L 9515 broad.mit.edu 36 3 122246975 122246975 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122246975 122246975 G T SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.373 p.A125S 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1,HMMPfam_WD40,HMMPfam_LLGL" - no_errors STXBP5L 9515 broad.mit.edu 36 3 122247071 122247071 + Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122247071 122247071 C T SNP STXBP5L NM_014980 human genbank 54_36p 1 validated nonsense c.469 p.R157* 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors STXBP5L 9515 broad.mit.edu 36 3 122440601 122440601 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122440601 122440601 T G SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.1278 p.I426M 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors STXBP5L 9515 broad.mit.edu 36 3 122458805 122458805 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122458805 122458805 T A SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.1767 p.S589R 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors ARGFX 503582 broad.mit.edu 36 3 122787591 122787591 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122787591 122787591 G T SNP ARGFX NM_001012659 human genbank 54_36p 1 validated missense c.402 p.K134N 0.28 "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors FBXO40 51725 broad.mit.edu 36 3 122828349 122828349 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122828349 122828349 C A SNP FBXO40 NM_016298 human genbank 54_36p 1 validated missense c.2032 p.P678T 1 NULL "superfamily_TRAF domain-like,superfamily_F-box domain,HMMPfam_F-box" - no_errors GOLGB1 2804 broad.mit.edu 36 3 122893051 122893051 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122893051 122893051 G A SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.7835 p.S2612F 0.69 HMMSmart_SM00340 "superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340" - no_errors GOLGB1 2804 broad.mit.edu 36 3 122893196 122893196 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122893196 122893196 C A SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated nonsense c.7690 p.E2564* 0.71 NULL "HMMSmart_SM00340,superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors GOLGB1 2804 broad.mit.edu 36 3 122898824 122898824 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 122898824 122898824 T G SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.3221 p.Q1074P 0 NULL "HMMSmart_SM00340,superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors GOLGB1 2804 broad.mit.edu 36 3 122899551 122899551 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 122899551 122899551 G C SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.2494 p.L832V 0.01 NULL "HMMSmart_SM00340,superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors CD86 942 broad.mit.edu 36 3 123305171 123305171 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 123305171 123305171 T G SNP CD86 NM_175862 human genbank 54_36p 1 reviewed missense c.187 p.L63V 0 "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406" "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406" - no_errors CD86 942 broad.mit.edu 36 3 123307737 123307737 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 123307737 123307737 A C SNP CD86 NM_175862 human genbank 54_36p 1 reviewed missense c.403 p.N135H 1 superfamily_Immunoglobulin "HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors CASR 846 broad.mit.edu 36 3 123485524 123485524 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 123485524 123485524 G A SNP CASR NM_000388 human genbank 54_36p 1 reviewed missense c.2033 p.R678H 1 HMMPfam_7tm_3 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors PARP15 165631 broad.mit.edu 36 3 123836714 123836714 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 123836714 123836714 G A SNP PARP15 NM_152615 human genbank 54_36p 1 validated missense c.1028 p.S343N 0.19 "superfamily_SSF56399,HMMPfam_PARP" "superfamily_SSF52949,HMMPfam_Macro,superfamily_SSF56399,HMMPfam_PARP" - no_errors PARP14 54625 broad.mit.edu 36 3 123905422 123905422 + Silent SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 123905422 123905422 A T SNP PARP14 NM_017554 human genbank 54_36p 1 validated silent c.3225 p.T1075 0 "superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro" "superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors HSPBAP1 79663 broad.mit.edu 36 3 123970328 123970328 + Silent SNP T T A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 123970328 123970328 T A SNP HSPBAP1 NM_024610 human genbank 54_36p -1 provisional silent c.342 p.P114 0.97 superfamily_Clavaminate synthase-like "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors SEC22A 26984 broad.mit.edu 36 3 124426687 124426687 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 124426687 124426687 C G SNP SEC22A NM_012430 human genbank 54_36p 1 reviewed missense c.394 p.L132V 1 NULL superfamily_SNARE-like - no_errors ADCY5 111 broad.mit.edu 36 3 124649298 124649298 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 124649298 124649298 G A SNP ADCY5 NM_183357 human genbank 54_36p -1 validated missense c.785 p.A262V 0.68 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors MYLK 4638 broad.mit.edu 36 3 124910306 124910306 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 124910306 124910306 G A SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.2069 p.T690M 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" ############################################################################################################################################################################################################################################################### - no_errors MYLK 4638 broad.mit.edu 36 3 124934450 124934450 + Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 124934450 124934450 C T SNP MYLK NM_053025 human genbank 54_36p -1 reviewed nonsense c.1499 p.W500* 0.98 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors MYLK 4638 broad.mit.edu 36 3 124954057 124954057 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 124954057 124954057 G C SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.184 p.P62A 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors ROPN1 54763 broad.mit.edu 36 3 125178457 125178457 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 125178457 125178457 C A SNP ROPN1 NM_017578 human genbank 54_36p -1 provisional missense c.178 p.A60S 0.01 NULL "superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit,HMMPfam_RIIa" - no_errors KALRN 8997 broad.mit.edu 36 3 125615117 125615117 + Silent SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 125615117 125615117 G C SNP KALRN NM_001024660 human genbank 54_36p 1 reviewed silent c.2451 p.R817 1 NULL ############################################################################################################################################################################################################################################################### - no_errors KALRN 8997 broad.mit.edu 36 3 125648301 125648301 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 125648301 125648301 C A SNP KALRN NM_001024660 human genbank 54_36p 1 reviewed missense c.3425 p.A1142E 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors KALRN 8997 broad.mit.edu 36 3 125918907 125918907 + Silent SNP A A T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 125918907 125918907 A T SNP KALRN NM_001024660 human genbank 54_36p 1 reviewed silent c.8400 p.A2800 0.64 "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors UMPS 7372 broad.mit.edu 36 3 125939494 125939494 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 125939494 125939494 C G SNP UMPS NM_000373 human genbank 54_36p 1 validated missense c.700 p.P234A 0.98 superfamily_Ribulose-phoshate binding barrel "superfamily_PRTase-like,HMMPfam_Pribosyltran,superfamily_Ribulose-phoshate binding barrel,HMMPfam_OMPdecase,PatternScan_OMPDECASE" - no_errors SLC12A8 84561 broad.mit.edu 36 3 126391980 126391980 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 126391980 126391980 C A SNP SLC12A8 NM_024628 human genbank 54_36p -1 validated missense c.127 p.D43Y 1 NULL HMMPfam_AA_permease - no_errors OSBPL11 114885 broad.mit.edu 36 3 126754155 126754155 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 126754155 126754155 A C SNP OSBPL11 NM_022776 human genbank 54_36p -1 reviewed missense c.1214 p.F405C 1 HMMPfam_Oxysterol_BP "superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_PH,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors OSBPL11 114885 broad.mit.edu 36 3 126781483 126781483 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 126781483 126781483 C A SNP OSBPL11 NM_022776 human genbank 54_36p -1 reviewed missense c.325 p.A109S 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_Oxysterol_BP,HMMPfam_PH,HMMSmart_SM00233,PatternScan_OSBP,superfamily_PH domain-like" - no_errors ALDH1L1 10840 broad.mit.edu 36 3 127325902 127325902 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 127325902 127325902 C T SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed missense c.1883 p.G628E 1 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" ############################################################################################################################################################################################################################################################### - no_errors ALDH1L1 10840 broad.mit.edu 36 3 127355060 127355060 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 127355060 127355060 C G SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed missense c.775 p.D259H 0.96 "HMMPfam_Formyl_trans_C,superfamily_FMT_C_like" ############################################################################################################################################################################################################################################################### - no_errors KLF15 28999 broad.mit.edu 36 3 127553477 127553477 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 127553477 127553477 C A SNP KLF15 NM_014079 human genbank 54_36p -1 validated missense c.979 p.G327C 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CCDC37 348807 broad.mit.edu 36 3 127637157 127637157 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 127637157 127637157 C T SNP CCDC37 NM_182628 human genbank 54_36p 1 validated missense c.1694 p.A565V 0.87 NULL NULL - no_errors UROC1 131669 broad.mit.edu 36 3 127702316 127702316 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 127702316 127702316 C T SNP UROC1 NM_144639 human genbank 54_36p -1 provisional missense c.1057 p.G353S 1 "superfamily_Urocanase,HMMPfam_Urocanase" "superfamily_Urocanase,HMMPfam_Urocanase,PatternScan_UROCANASE" - no_errors C3orf22 152065 broad.mit.edu 36 3 127751454 127751454 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 127751454 127751454 C G SNP C3orf22 NM_152533 human genbank 54_36p -1 predicted missense c.373 p.A125P 0 NULL NULL - no_errors C3orf22 152065 broad.mit.edu 36 3 127753558 127753558 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 127753558 127753558 C A SNP C3orf22 NM_152533 human genbank 54_36p -1 predicted missense c.187 p.V63L 0.13 NULL NULL - no_errors PLXNA1 5361 broad.mit.edu 36 3 128218095 128218095 + Silent SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 128218095 128218095 C T SNP PLXNA1 NM_032242 human genbank 54_36p 1 validated silent c.2991 p.S997 0.42 "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors MCM2 4171 broad.mit.edu 36 3 128807766 128807766 + Silent SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 128807766 128807766 C A SNP MCM2 NM_004526 human genbank 54_36p 1 reviewed silent c.789 p.A263 1 superfamily_Nucleic_acid_OB "superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,PatternScan_MCM_1" - no_errors PODXL2 50512 broad.mit.edu 36 3 128862576 128862576 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 128862576 128862576 G A SNP PODXL2 NM_015720 human genbank 54_36p 1 validated missense c.1015 p.G339R 0.09 NULL HMMPfam_CD34_antigen - no_errors KBTBD12 166348 broad.mit.edu 36 3 129125457 129125457 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 129125457 129125457 G C SNP KLHDC6 NM_207335 human genbank 54_36p 1 validated missense c.863 p.R288T 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors SEC61A1 29927 broad.mit.edu 36 3 129271148 129271148 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 129271148 129271148 G T SNP SEC61A1 NM_013336 human genbank 54_36p 1 reviewed missense c.1384 p.V462F 1 superfamily_Preprotein translocase SecY subunit "superfamily_Preprotein translocase SecY subunit,HMMPfam_Plug_translocon,PatternScan_SECY_1,HMMPfam_SecY,PatternScan_SECY_2" - no_errors EEFSEC 60678 broad.mit.edu 36 3 129542882 129542882 + Silent SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 129542882 129542882 G T SNP EEFSEC NM_021937 human genbank 54_36p 1 validated silent c.903 p.G301 0.91 "superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2" - no_errors RPN1 6184 broad.mit.edu 36 3 129827101 129827101 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 129827101 129827101 A G SNP RPN1 NM_002950 human genbank 54_36p -1 reviewed missense c.1361 p.I454T 1 HMMPfam_Ribophorin_I HMMPfam_Ribophorin_I - no_errors ACAD9 28976 broad.mit.edu 36 3 130100986 130100986 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 130100986 130100986 G T SNP ACAD9 NM_014049 human genbank 54_36p 1 validated missense c.800 p.G267V 1 superfamily_AcylCoA_dehyd_NM "HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2" - no_errors ACAD9 28976 broad.mit.edu 36 3 130111556 130111556 + Silent SNP C C G novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 130111556 130111556 C G SNP ACAD9 NM_014049 human genbank 54_36p 1 validated silent c.1566 p.T522 0.99 NULL "PatternScan_ACYL_COA_DH_1,PatternScan_ACYL_COA_DH_2,HMMPfam_Acyl-CoA_dh_1,HMMPfam_Acyl-CoA_dh_M,HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoADH_C_like,superfamily_AcylCoA_dehyd_NM" - no_errors COPG 22820 broad.mit.edu 36 3 130462264 130462264 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 130462264 130462264 C T SNP COPG NM_016128 human genbank 54_36p 1 validated missense c.1052 p.T351M 1 "superfamily_ARM repeat,HMMPfam_Adaptin_N" "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Gamma-COP,superfamily_Subdomain of clathrin and coatomer appendage domain" - no_errors COPG 22820 broad.mit.edu 36 3 130469502 130469502 + Missense_Mutation SNP A A G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 130469502 130469502 A G SNP COPG NM_016128 human genbank 54_36p 1 validated missense c.1577 p.D526G 1 "HMMPfam_Adaptin_N,superfamily_ARM repeat" "HMMPfam_Adaptin_N,superfamily_Subdomain of clathrin and coatomer appendage domain,superfamily_Clathrin adaptor appendage domain,HMMPfam_Gamma-COP,superfamily_ARM repeat" - no_errors C3orf37 56941 broad.mit.edu 36 3 130506330 130506330 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 130506330 130506330 C G SNP C3orf37 NM_001006109 human genbank 54_36p 1 validated missense c.1037 p.P346R 0.66 NULL HMMPfam_DUF159 - no_errors H1FX 8971 broad.mit.edu 36 3 130517372 130517372 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 130517372 130517372 T G SNP H1FX NM_006026 human genbank 54_36p -1 reviewed missense c.64 p.T22P 1 NULL "superfamily_SSF46785,HMMSmart_H15,HMMPfam_Linker_histone" - no_errors C3orf25 90288 broad.mit.edu 36 3 130603325 130603325 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 130603325 130603325 G A SNP C3orf25 NM_207307 human genbank 54_36p -1 predicted missense c.1520 p.P507L 0.98 NULL "PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors C3orf25 90288 broad.mit.edu 36 3 130612864 130612864 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 130612864 130612864 C T SNP C3orf25 NM_207307 human genbank 54_36p -1 predicted missense c.862 p.D288N 0 NULL "PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors MBD4 8930 broad.mit.edu 36 3 130638158 130638158 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 130638158 130638158 T C SNP MBD4 NM_003925 human genbank 54_36p -1 reviewed missense c.1019 p.K340R 0.07 NULL "superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-glycosylase,HMMPfam_HhH-GPD" - no_errors IFT122 55764 broad.mit.edu 36 3 130678335 130678335 + Splice_Site SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 130678335 130678335 G T SNP IFT122 NM_052985 human genbank 54_36p 1 reviewed splice_site c.1300+1 e12+1 1 - - - no_errors IFT122 55764 broad.mit.edu 36 3 130701528 130701528 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 130701528 130701528 G T SNP IFT122 NM_052985 human genbank 54_36p 1 reviewed missense c.2455 p.V819L 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors COL6A5 256076 broad.mit.edu 36 3 131641985 131641985 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 131641985 131641985 A G SNP COL29A1 NM_153264 human genbank 54_36p 1 validated missense c.230 p.Q77R 0 "HMMSmart_VWA,superfamily_SSF53300,HMMPfam_VWA" "HMMSmart_VWA,superfamily_SSF53300,HMMPfam_VWA" - no_errors COL6A5 256076 broad.mit.edu 36 3 131642328 131642328 + Silent SNP G G A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 131642328 131642328 G A SNP COL29A1 NM_153264 human genbank 54_36p 1 validated silent c.573 p.K191 0.81 superfamily_SSF53300 "HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300" - no_errors COL6A6 131873 broad.mit.edu 36 3 131764789 131764789 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 131764789 131764789 C A SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional missense c.252 p.F84L 0.12 "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA" "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen" - no_errors COL6A6 131873 broad.mit.edu 36 3 131764946 131764946 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 131764946 131764946 G C SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional missense c.409 p.V137L 1 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors COL6A6 131873 broad.mit.edu 36 3 131767102 131767120 + Frame_Shift_Del DEL ACACACAGTCTCTGTCTTT - ACACACAGTCTCTGTCTTT novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 ACACACAGTCTCTGTCTTT ACACACAGTCTCTGTCTTT - - ACACACAGTCTCTGTCTTT ACACACAGTCTCTGTCTTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 131767102 131767120 ACACACAGTCTCTGTCTTT - DEL COL6A6 NM_001102608 human genbank 54_36p 1 provisional frame_shift_del c.1236_1254 p.H413fs 0.001:0.016:0.019:0.004:0.003:0.002:0.000:0.032:0.074:0.061:0.050:0.024:0.002:0.006:0.008:0.001:0.000:0.000:0.000 NULL "HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen" "(deletion:cds_exon[131766528,131767148])" no_errors COL6A6 131873 broad.mit.edu 36 3 131772745 131772745 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 131772745 131772745 C T SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional missense c.2795 p.T932M 0.02 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors COL6A6 131873 broad.mit.edu 36 3 131776047 131776047 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 131776047 131776047 G C SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional missense c.3535 p.A1179P 0 superfamily_vWA-like "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors COL6A6 131873 broad.mit.edu 36 3 131783252 131783252 + Silent SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 131783252 131783252 T A SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional silent c.3705 p.T1235 1 "HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors COL6A6 131873 broad.mit.edu 36 3 131850964 131850964 + Silent SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 131850964 131850964 C T SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional silent c.5601 p.A1867 0.99 "HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors PIK3R4 30849 broad.mit.edu 36 3 131925103 131925103 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 131925103 131925103 C T SNP PIK3R4 NM_014602 human genbank 54_36p -1 validated missense c.1826 p.G609D 1 superfamily_ARM-type_fold "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM-type_fold,HMMPfam_HEAT,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ACAD11 84129 broad.mit.edu 36 3 133846346 133846346 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 133846346 133846346 A G SNP ACAD11 ENST00000393156 human ensembl 54_36p -1 known missense c.4069 p.S1357P 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1" - no_errors ACAD11 84129 broad.mit.edu 36 3 133861225 133861225 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 133861225 133861225 C T SNP ACAD11 NM_032169 human genbank 54_36p -1 validated missense c.61 p.D21N 0.98 superfamily_Protein kinase-like (PK-like) ############################################################################################################################################################################################################################################################### - no_errors ACAD11 84129 broad.mit.edu 36 3 133861273 133861273 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 133861273 133861273 C A SNP ACAD11 NM_032169 human genbank 54_36p -1 validated missense c.13 p.A5S 0 NULL ############################################################################################################################################################################################################################################################### - no_errors NPHP3 27031 broad.mit.edu 36 3 133903036 133903036 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 133903036 133903036 G C SNP NPHP3 NM_153240 human genbank 54_36p -1 reviewed missense c.1556 p.A519G 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1" - no_errors NPHP3 27031 broad.mit.edu 36 3 133916620 133916620 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 133916620 133916620 T A SNP NPHP3 NM_153240 human genbank 54_36p -1 reviewed missense c.956 p.K319M 1 NULL "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TF 7018 broad.mit.edu 36 3 134960749 134960749 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 134960749 134960749 G T SNP TF NM_001063 human genbank 54_36p 1 reviewed missense c.1089 p.W363C 1 "superfamily_Periplasmic binding protein-like II,HMMPfam_Transferrin,HMMSmart_SM00094" "superfamily_Periplasmic binding protein-like II,HMMPfam_Transferrin,HMMSmart_SM00094,PatternScan_TRANSFERRIN_1,PatternScan_TRANSFERRIN_2,PatternScan_TRANSFERRIN_3" - no_errors SLCO2A1 6578 broad.mit.edu 36 3 135137337 135137337 + Silent SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 135137337 135137337 G C SNP SLCO2A1 NM_005630 human genbank 54_36p -1 validated silent c.1785 p.A595 0.53 "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP" "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors RYK 6259 broad.mit.edu 36 3 135390446 135390446 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 3 135390446 135390446 G A SNP RYK NM_001005861 human genbank 54_36p -1 reviewed missense c.1034 p.A345V 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region AMOTL2 51421 broad.mit.edu 36 3 135569177 135569177 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 135569177 135569177 C G SNP AMOTL2 NM_016201 human genbank 54_36p -1 reviewed missense c.893 p.S298T 0 NULL NULL - no_errors AMOTL2 51421 broad.mit.edu 36 3 135572745 135572745 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 135572745 135572745 G T SNP AMOTL2 NM_016201 human genbank 54_36p -1 reviewed missense c.221 p.P74H 1 NULL NULL - no_errors KY 339855 broad.mit.edu 36 3 135822366 135822366 + Silent SNP G G A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 135822366 135822366 G A SNP KY NM_178554 human genbank 54_36p -1 validated silent c.507 p.D169 0.86 "superfamily_Cysteine proteinases,HMMPfam_Transglut_core" "superfamily_Cysteine proteinases,HMMPfam_Transglut_core,HMMSmart_SM00460" - no_errors EPHB1 2047 broad.mit.edu 36 3 135997165 135997165 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 135997165 135997165 T A SNP EPHB1 NM_004441 human genbank 54_36p 1 reviewed missense c.2 p.M1K 1 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHB1 2047 broad.mit.edu 36 3 136153129 136153129 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 136153129 136153129 C A SNP EPHB1 NM_004441 human genbank 54_36p 1 reviewed missense c.350 p.T117N 1 "HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors EPHB1 2047 broad.mit.edu 36 3 136153305 136153305 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 136153305 136153305 G A SNP EPHB1 NM_004441 human genbank 54_36p 1 reviewed missense c.526 p.A176T 1 "HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors EPHB1 2047 broad.mit.edu 36 3 136334264 136334264 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 136334264 136334264 G A SNP EPHB1 NM_004441 human genbank 54_36p 1 reviewed missense c.980 p.R327H 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors EPHB1 2047 broad.mit.edu 36 3 136403158 136403158 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 136403158 136403158 C T SNP EPHB1 NM_004441 human genbank 54_36p 1 reviewed silent c.2283 p.S761 0.18 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors PPP2R3A 5523 broad.mit.edu 36 3 137204717 137204717 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 137204717 137204717 C A SNP PPP2R3A NM_002718 human genbank 54_36p 1 reviewed missense c.1687 p.P563T 0.01 NULL "superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors STAG1 10274 broad.mit.edu 36 3 137805986 137805986 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 137805986 137805986 C T SNP STAG1 NM_005862 human genbank 54_36p -1 reviewed missense c.152 p.R51Q 1 NULL "superfamily_ARM-type_fold,HMMPfam_STAG" - no_errors TMEM22 80723 broad.mit.edu 36 3 138056192 138056206 + In_Frame_Del DEL CTTTCTTTGGAACCA - CTTTCTTTGGAACCA novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 CTTTCTTTGGAACCA CTTTCTTTGGAACCA - - CTTTCTTTGGAACCA CTTTCTTTGGAACCA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 138056192 138056206 CTTTCTTTGGAACCA - DEL TMEM22 NM_001097599 human genbank 54_36p 1 validated in_frame_del c.200_214 p.AFFGTM67in_frame_delV 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.990:0.994 NULL "HMMPfam_DUF6,superfamily_SSF103481" "(deletion:cds_exon[138055993,138057231])" no_errors CLDN18 51208 broad.mit.edu 36 3 139200538 139200538 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 139200538 139200538 C A SNP CLDN18 NM_001002026 human genbank 54_36p 1 validated nonsense c.138 p.Y46* 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors PRR23B 389151 broad.mit.edu 36 3 140221999 140221999 + Silent SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 140221999 140221999 C G SNP LOC389151 NM_001013650 human genbank 54_36p -1 validated silent c.195 p.A65 0.01 HMMPfam_DUF2476 HMMPfam_DUF2476 - no_errors COPB2 9276 broad.mit.edu 36 3 140560638 140560639 + Frame_Shift_Del DEL TG - TG novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 TG TG - - TG TG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 140560638 140560639 TG - DEL COPB2 NM_004766 human genbank 54_36p -1 validated frame_shift_del c.2376_2375 p.T792fs 0.999:1.000 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,superfamily_Amine_DH_B_like,HMMPfam_Coatomer_WDAD" "(deletion:cds_exon[140560530,140560710])" no_errors ZBTB38 253461 broad.mit.edu 36 3 142646681 142646681 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 142646681 142646681 A G SNP ZBTB38 NM_001080412 human genbank 54_36p 1 validated missense c.2761 p.N921D 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors GRK7 131890 broad.mit.edu 36 3 143009181 143009181 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 143009181 143009181 G C SNP GRK7 NM_139209 human genbank 54_36p 1 reviewed missense c.1055 p.G352A 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X" - no_errors XRN1 54464 broad.mit.edu 36 3 143534594 143534594 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 143534594 143534594 C T SNP XRN1 NM_019001 human genbank 54_36p -1 validated missense c.3967 p.A1323T 1 NULL "HMMPfam_XRN_N,superfamily_dsRNA-binding domain-like" - no_errors PCOLCE2 26577 broad.mit.edu 36 3 144025146 144025146 + Silent SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 144025146 144025146 A G SNP PCOLCE2 NM_013363 human genbank 54_36p -1 provisional silent c.867 p.G289 1 NULL "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_ABC_TRANSPORTER_1,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" - no_errors CHST2 9435 broad.mit.edu 36 3 144322501 144322501 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 144322501 144322501 C G SNP CHST2 NM_004267 human genbank 54_36p 1 validated missense c.153 p.F51L 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors CHST2 9435 broad.mit.edu 36 3 144323464 144323464 + Silent SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 144323464 144323464 G A SNP CHST2 NM_004267 human genbank 54_36p 1 validated silent c.1116 p.A372 0.25 "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHST2 9435 broad.mit.edu 36 3 144323520 144323520 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 144323520 144323520 C T SNP CHST2 NM_004267 human genbank 54_36p 1 validated missense c.1172 p.A391V 1 "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SLC9A9 285195 broad.mit.edu 36 3 144468407 144468407 + Missense_Mutation SNP T T G rs2289491 "by-cluster,by-frequency,by-submitter,by-hapmap" TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 144468407 144468407 T G SNP SLC9A9 NM_173653 human genbank 54_36p -1 validated missense c.1765 p.I589L 0.39 NULL HMMPfam_Na_H_Exchanger - no_errors C3orf58 205428 broad.mit.edu 36 3 145174022 145174022 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 145174022 145174022 A G SNP C3orf58 NM_173552 human genbank 54_36p 1 validated missense c.158 p.N53S 1 NULL NULL - no_errors PLOD2 5352 broad.mit.edu 36 3 147324655 147324655 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 147324655 147324655 C T SNP PLOD2 NM_182943 human genbank 54_36p -1 reviewed missense c.161 p.R54Q 1 NULL "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE" - no_errors PLSCR1 5359 broad.mit.edu 36 3 147716578 147716578 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 147716578 147716578 C G SNP PLSCR1 NM_021105 human genbank 54_36p -1 validated missense c.901 p.D301H 1 HMMPfam_Scramblase HMMPfam_Scramblase - no_errors TM4SF18 116441 broad.mit.edu 36 3 150525433 150525433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 150525433 150525433 C T SNP TM4SF18 NM_138786 human genbank 54_36p -1 provisional missense c.334 p.A112T 0.84 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors TM4SF4 7104 broad.mit.edu 36 3 150699338 150699338 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 150699338 150699338 G T SNP TM4SF4 NM_004617 human genbank 54_36p 1 reviewed missense c.541 p.G181C 1 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors RNF13 11342 broad.mit.edu 36 3 151095968 151095968 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 151095968 151095968 G C SNP RNF13 NM_007282 human genbank 54_36p 1 reviewed missense c.340 p.A114P 1 "superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA" "superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_EGF_2" - no_errors PFN2 5217 broad.mit.edu 36 3 151168850 151168850 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 151168850 151168850 C G SNP PFN2 NM_002628 human genbank 54_36p -1 reviewed missense c.310 p.G104R 1 "superfamily_Profilin (actin-binding protein),HMMSmart_SM00392,HMMPfam_Profilin" "PatternScan_PROFILIN,superfamily_Profilin (actin-binding protein),HMMSmart_SM00392,HMMPfam_Profilin" - no_errors TSC22D2 9819 broad.mit.edu 36 3 151610420 151610420 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 151610420 151610420 C G SNP TSC22D2 NM_014779 human genbank 54_36p 1 provisional missense c.593 p.S198C 1 NULL "PatternScan_TSC22,HMMPfam_TSC22" - no_errors EIF2A 83939 broad.mit.edu 36 3 151772489 151772489 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 151772489 151772489 G T SNP EIF2A NM_032025 human genbank 54_36p 1 validated missense c.866 p.C289F 1 "superfamily_WD40 repeat-like,HMMPfam_eIF2A" "superfamily_WD40 repeat-like,HMMPfam_eIF2A" - no_errors FAM194A 131831 broad.mit.edu 36 3 151860491 151860491 + Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 151860491 151860491 T A SNP C3orf44 NM_152394 human genbank 54_36p -1 validated nonsense c.1870 p.K624* 0.05 NULL NULL - no_errors MED12L 116931 broad.mit.edu 36 3 152393987 152393987 + Silent SNP A A G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 152393987 152393987 A G SNP MED12L NM_053002 human genbank 54_36p 1 validated silent c.1989 p.G663 1 NULL HMMPfam_Med12 - no_errors P2RY12 64805 broad.mit.edu 36 3 152538631 152538631 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 152538631 152538631 C A SNP P2RY12 NM_022788 human genbank 54_36p -1 reviewed missense c.693 p.R231S 0.68 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors MED12L 116931 broad.mit.edu 36 3 152588602 152588602 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 152588602 152588602 G T SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.5298 p.K1766N 1 NULL HMMPfam_Med12 - no_errors IGSF10 285313 broad.mit.edu 36 3 152644252 152644252 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 152644252 152644252 C T SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.5173 p.A1725T 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_I-set,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_ig" - no_errors IGSF10 285313 broad.mit.edu 36 3 152646317 152646317 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 152646317 152646317 G A SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.4142 p.T1381I 0 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors IGSF10 285313 broad.mit.edu 36 3 152648106 152648106 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 152648106 152648106 G C SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.2353 p.Q785E 0 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors IGSF10 285313 broad.mit.edu 36 3 152649167 152649167 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 152649167 152649167 T C SNP IGSF10 NM_178822 human genbank 54_36p -1 provisional missense c.1292 p.Q431R 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors SUCNR1 56670 broad.mit.edu 36 3 153081999 153081999 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 153081999 153081999 A T SNP SUCNR1 NM_033050 human genbank 54_36p 1 provisional missense c.978 p.E326D 0 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors P2RY1 5028 broad.mit.edu 36 3 154036300 154036300 + Silent SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 154036300 154036300 G A SNP P2RY1 NM_002563 human genbank 54_36p 1 reviewed silent c.39 p.T13 0.7 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR149 344758 broad.mit.edu 36 3 155538753 155538753 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 155538753 155538753 C T SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.1625 p.R542H 1 NULL NULL - no_errors GPR149 344758 broad.mit.edu 36 3 155629846 155629846 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 155629846 155629846 C T SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.253 p.V85M 0.82 NULL NULL - no_errors GPR149 344758 broad.mit.edu 36 3 155629951 155629951 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 155629951 155629951 C A SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.148 p.G50C 1 NULL NULL - no_errors MME 4311 broad.mit.edu 36 3 156315588 156315588 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 156315588 156315588 G T SNP MME NM_000902 human genbank 54_36p 1 reviewed missense c.308 p.R103L 0.91 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors MME 4311 broad.mit.edu 36 3 156347676 156347676 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 156347676 156347676 A G SNP MME NM_000902 human genbank 54_36p 1 reviewed missense c.1466 p.N489S 0.05 superfamily_Metalloproteases (zincins) catalytic domain "HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors PLCH1 23007 broad.mit.edu 36 3 156694660 156694660 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 156694660 156694660 A C SNP PLCH1 NM_014996 human genbank 54_36p -1 validated missense c.2056 p.C686G 1 "HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl" ############################################################################################################################################################################################################################################################### - no_errors SLC33A1 9197 broad.mit.edu 36 3 157043032 157043032 + Silent SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 157043032 157043032 G A SNP SLC33A1 NM_004733 human genbank 54_36p -1 reviewed silent c.846 p.N282 0.99 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors GMPS 8833 broad.mit.edu 36 3 157116538 157116538 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 157116538 157116538 C G SNP GMPS NM_003875 human genbank 54_36p 1 reviewed missense c.1075 p.P359A 1 superfamily_Adenine nucleotide alpha hydrolases-like "superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_ExsB,HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain" - no_errors KCNAB1 7881 broad.mit.edu 36 3 157714893 157714893 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 157714893 157714893 G A SNP KCNAB1 NM_172160 human genbank 54_36p 1 reviewed missense c.705 p.M235I 1 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" - no_errors TIPARP 25976 broad.mit.edu 36 3 157904093 157904093 + Silent SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 157904093 157904093 C T SNP TIPARP NM_015508 human genbank 54_36p 1 provisional silent c.1434 p.Y478 1 "superfamily_SSF56399,HMMPfam_PARP" "HMMPfam_zf-CCCH,superfamily_SSF56399,HMMPfam_PARP" - no_errors LEKR1 389170 broad.mit.edu 36 3 158245839 158245839 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 158245839 158245839 A G SNP LEKR1 NM_001004316 human genbank 54_36p 1 provisional missense c.773 p.E258G 1 NULL NULL - no_errors GFM1 85476 broad.mit.edu 36 3 159859422 159859422 + Silent SNP A A G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 159859422 159859422 A G SNP GFM1 NM_024996 human genbank 54_36p 1 reviewed silent c.1101 p.Q367 1 "superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2" "superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C" - no_errors RARRES1 5918 broad.mit.edu 36 3 159911391 159911391 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 159911391 159911391 C T SNP RARRES1 NM_206963 human genbank 54_36p -1 reviewed missense c.365 p.R122H 0 HMMPfam_Latexin HMMPfam_Latexin - no_errors SCHIP1 29970 broad.mit.edu 36 3 161086767 161086767 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 161086767 161086767 G A SNP SCHIP1 NM_014575 human genbank 54_36p 1 provisional missense c.956 p.S319N 1 HMMPfam_SCHIP-1 HMMPfam_SCHIP-1 - no_errors SMC4 10051 broad.mit.edu 36 3 161603287 161603287 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 161603287 161603287 G A SNP SMC4 NM_001002800 human genbank 54_36p 1 validated missense c.448 p.D150N 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_Smc hinge domain,HMMPfam_SMC_hinge" - no_errors OTOL1 131149 broad.mit.edu 36 3 162703943 162703943 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 162703943 162703943 T C SNP OTOL1 NM_001080440 human genbank 54_36p 1 predicted missense c.953 p.V318A 0 HMMPfam_Collagen "HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q" - no_errors SI 6476 broad.mit.edu 36 3 166218074 166218074 + Missense_Mutation SNP C C A rs41273567 Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 166218074 166218074 C A SNP SI NM_001041 human genbank 54_36p -1 validated missense c.3715 p.V1239F 0.43 "HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SI 6476 broad.mit.edu 36 3 166218272 166218272 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 166218272 166218272 G T SNP SI NM_001041 human genbank 54_36p -1 validated missense c.3604 p.P1202T 1 HMMPfam_Glyco_hydro_31 "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SI 6476 broad.mit.edu 36 3 166221865 166221865 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 166221865 166221865 T A SNP SI NM_001041 human genbank 54_36p -1 validated missense c.3100 p.I1034F 1 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SI 6476 broad.mit.edu 36 3 166224101 166224101 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 166224101 166224101 G T SNP SI NM_001041 human genbank 54_36p -1 validated missense c.3050 p.T1017N 0.65 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SI 6476 broad.mit.edu 36 3 166265802 166265802 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 166265802 166265802 G A SNP SI NM_001041 human genbank 54_36p -1 validated missense c.748 p.R250C 1 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SI 6476 broad.mit.edu 36 3 166267825 166267825 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 166267825 166267825 G A SNP SI NM_001041 human genbank 54_36p -1 validated missense c.632 p.T211I 0.08 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SI 6476 broad.mit.edu 36 3 166267839 166267839 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 166267839 166267839 T A SNP SI NM_001041 human genbank 54_36p -1 validated missense c.618 p.K206N 1 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL" - no_errors SLITRK3 22865 broad.mit.edu 36 3 166388411 166388411 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 166388411 166388411 C A SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated nonsense c.2902 p.E968* 1 NULL "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMSmart_LRRNT,HMMPfam_LRR_1" - no_errors SLITRK3 22865 broad.mit.edu 36 3 166388818 166388818 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 166388818 166388818 G A SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated missense c.2495 p.T832M 1 NULL "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors SLITRK3 22865 broad.mit.edu 36 3 166389115 166389115 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 166389115 166389115 G T SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated missense c.2198 p.A733D 1 NULL "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors BCHE 590 broad.mit.edu 36 3 167030584 167030584 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 167030584 167030584 C A SNP BCHE NM_000055 human genbank 54_36p -1 reviewed missense c.932 p.G311V 0 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,HMMPfam_AChE_tetra" - no_errors BCHE 590 broad.mit.edu 36 3 167031189 167031189 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 167031189 167031189 C G SNP BCHE NM_000055 human genbank 54_36p -1 reviewed missense c.327 p.M109I 1 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,HMMPfam_AChE_tetra,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,superfamily_SSF53474" - no_errors WDR49 151790 broad.mit.edu 36 3 168737372 168737372 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 168737372 168737372 G T SNP WDR49 NM_178824 human genbank 54_36p -1 provisional missense c.878 p.P293H 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors MECOM 2122 broad.mit.edu 36 3 170316930 170316930 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 170316930 170316930 T A SNP EVI1 NM_001105077 human genbank 54_36p -1 validated missense c.1052 p.H351L 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LRRC31 79782 broad.mit.edu 36 3 171061052 171061052 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 171061052 171061052 G C SNP LRRC31 NM_024727 human genbank 54_36p -1 validated missense c.478 p.Q160E 0 "superfamily_RNI-like,HMMSmart_SM00368" "HMMSmart_SM00368,superfamily_RNI-like" - no_errors LRRC31 79782 broad.mit.edu 36 3 171061159 171061159 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 171061159 171061159 T C SNP LRRC31 NM_024727 human genbank 54_36p -1 validated missense c.371 p.N124S 1 superfamily_RNI-like "HMMSmart_SM00368,superfamily_RNI-like" - no_errors SAMD7 344658 broad.mit.edu 36 3 171121779 171121779 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 171121779 171121779 A G SNP SAMD7 NM_182610 human genbank 54_36p 1 provisional missense c.170 p.N57S 0 NULL "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors PRKCI 5584 broad.mit.edu 36 3 171482391 171482391 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 171482391 171482391 T G SNP PRKCI NM_002740 human genbank 54_36p 1 reviewed missense c.1008 p.N336K 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors SKIL 6498 broad.mit.edu 36 3 171561587 171561587 + Silent SNP T T C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 3 171561587 171561587 T C SNP SKIL NM_005414 human genbank 54_36p 1 validated silent c.774 p.T258 1 NULL "HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain,superfamily_SAND domain-like,HMMPfam_c-SKI_SMAD_bind" - no_errors SKIL 6498 broad.mit.edu 36 3 171592745 171592745 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 171592745 171592745 C T SNP SKIL NM_005414 human genbank 54_36p 1 validated missense c.1901 p.A634V 1 NULL "HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain,superfamily_SAND domain-like,HMMPfam_c-SKI_SMAD_bind" - no_errors CLDN11 5010 broad.mit.edu 36 3 171633065 171633065 + Missense_Mutation SNP A A G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 171633065 171633065 A G SNP CLDN11 NM_005602 human genbank 54_36p 1 reviewed missense c.451 p.I151V 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors TNIK 23043 broad.mit.edu 36 3 172284784 172284784 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 172284784 172284784 C T SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.3023 p.R1008K 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH" - no_errors TNIK 23043 broad.mit.edu 36 3 172294438 172294438 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture WU-454 Illumina GAIIx 3 172294438 172294438 G T SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.2605 p.P869T 0.97 NULL "HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors FNDC3B 64778 broad.mit.edu 36 3 173563227 173563227 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 173563227 173563227 C A SNP FNDC3B NM_022763 human genbank 54_36p 1 validated missense c.2906 p.A969D 0.97 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F2" - no_errors TNFSF10 8743 broad.mit.edu 36 3 173723832 173723833 + Missense_Mutation DNP CC CC TT novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 173723832 173723833 CC TT DNP TNFSF10 NM_003810 human genbank 54_36p -1 reviewed missense c.37_36 p.G13R 0.263:0.002 NULL "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1" - no_errors SPATA16 83893 broad.mit.edu 36 3 174125897 174125897 + Silent SNP C C A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 174125897 174125897 C A SNP SPATA16 NM_031955 human genbank 54_36p -1 validated silent c.1161 p.G387 0.98 NULL superfamily_TPR-like - no_errors SPATA16 83893 broad.mit.edu 36 3 174249497 174249497 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 174249497 174249497 T C SNP SPATA16 NM_031955 human genbank 54_36p -1 validated missense c.694 p.T232A 1 superfamily_TPR-like superfamily_TPR-like - no_errors NLGN1 22871 broad.mit.edu 36 3 175008283 175008283 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 175008283 175008283 G C SNP NLGN1 NM_014932 human genbank 54_36p 1 reviewed missense c.613 p.V205L 1 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2" - no_errors TBL1XR1 79718 broad.mit.edu 36 3 178252132 178252132 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 178252132 178252132 G C SNP TBL1XR1 NM_024665 human genbank 54_36p -1 reviewed missense c.281 p.T94R 1 NULL "HMMSmart_LisH,HMMPfam_LisH,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors ZMAT3 64393 broad.mit.edu 36 3 180268015 180268015 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 180268015 180268015 G C SNP ZMAT3 NM_022470 human genbank 54_36p -1 reviewed missense c.220 p.L74V 1 "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2" "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2" - no_errors PIK3CA 5290 broad.mit.edu 36 3 180400347 180400347 + Silent SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 180400347 180400347 A G SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed silent c.528 p.E176 1 "superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd" ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 5290 broad.mit.edu 36 3 180425287 180425287 + Silent SNP C C A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 180425287 180425287 C A SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed silent c.2400 p.I800 1 "HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like" ############################################################################################################################################################################################################################################################### - no_errors MFN1 55669 broad.mit.edu 36 3 180549437 180549437 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 3 180549437 180549437 T A SNP MFN1 NM_033540 human genbank 54_36p 1 reviewed missense c.104 p.F35Y 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin" - no_errors MFN1 55669 broad.mit.edu 36 3 180579085 180579085 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 180579085 180579085 T C SNP MFN1 NM_033540 human genbank 54_36p 1 reviewed missense c.1451 p.L484P 1 NULL "HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors USP13 8975 broad.mit.edu 36 3 180961631 180961631 + Silent SNP C C G novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 180961631 180961631 C G SNP USP13 NM_003940 human genbank 54_36p 1 validated silent c.1986 p.A662 0.95 "superfamily_SSF54001,HMMPfam_UCH,HMMPfam_UBA,HMMSmart_UBA" "HMMSmart_ZnF_UBP,HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,HMMPfam_UBA,HMMSmart_UBA,superfamily_UBA_like,PatternScan_UCH_2_2" - no_errors PEX5L 51555 broad.mit.edu 36 3 181010040 181010040 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 181010040 181010040 T G SNP PEX5L NM_016559 human genbank 54_36p -1 provisional missense c.1265 p.K422T 0.99 "superfamily_TPR-like,HMMSmart_SM00028" "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors PEX5L 51555 broad.mit.edu 36 3 181010092 181010092 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 181010092 181010092 T C SNP PEX5L NM_016559 human genbank 54_36p -1 provisional missense c.1213 p.T405A 1 "HMMSmart_SM00028,superfamily_TPR-like" "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like" - no_errors TTC14 151613 broad.mit.edu 36 3 181810311 181810311 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 181810311 181810311 G C SNP TTC14 NM_133462 human genbank 54_36p 1 validated missense c.1600 p.D534H 1 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like" - no_errors TTC14 151613 broad.mit.edu 36 3 181810643 181810643 + Silent SNP T T C novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 181810643 181810643 T C SNP TTC14 NM_133462 human genbank 54_36p 1 validated silent c.1932 p.Y644 0.02 NULL "HMMPfam_TPR_1,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00028,superfamily_TPR-like" - no_errors CCDC39 339829 broad.mit.edu 36 3 181831983 181831983 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 181831983 181831983 C G SNP CCDC39 NM_181426 human genbank 54_36p -1 validated missense c.1966 p.E656Q 1 NULL superfamily_Prefoldin - no_errors CCDC39 339829 broad.mit.edu 36 3 181832026 181832026 + Silent SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 181832026 181832026 T C SNP CCDC39 NM_181426 human genbank 54_36p -1 validated silent c.1923 p.R641 1 NULL superfamily_Prefoldin - no_errors CCDC39 339829 broad.mit.edu 36 3 181861186 181861186 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 181861186 181861186 T C SNP CCDC39 NM_181426 human genbank 54_36p -1 validated missense c.382 p.K128E 1 NULL superfamily_Prefoldin - no_errors ATP11B 23200 broad.mit.edu 36 3 184085261 184085261 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 184085261 184085261 G T SNP ATP11B NM_014616 human genbank 54_36p 1 validated missense c.2536 p.A846S 1 superfamily_SSF56784 "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660" - no_errors DCUN1D1 54165 broad.mit.edu 36 3 184164449 184164449 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 184164449 184164449 A C SNP DCUN1D1 NM_020640 human genbank 54_36p -1 validated missense c.303 p.S101R 1 NULL "superfamily_UBA-like,HMMPfam_DUF298" - no_errors LAMP3 27074 broad.mit.edu 36 3 184354780 184354780 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 184354780 184354780 A G SNP LAMP3 NM_014398 human genbank 54_36p -1 validated missense c.143 p.I48T 0 NULL HMMPfam_Lamp - no_errors B3GNT5 84002 broad.mit.edu 36 3 184470994 184470994 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 184470994 184470994 C A SNP B3GNT5 NM_032047 human genbank 54_36p 1 reviewed nonsense c.714 p.Y238* 1 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors MCF2L2 23101 broad.mit.edu 36 3 184500672 184500672 + Silent SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 184500672 184500672 G A SNP MCF2L2 NM_015078 human genbank 54_36p -1 validated silent c.1120 p.L374 0.05 "superfamily_Spectrin repeat,HMMSmart_SM00150" "HMMSmart_SM00516,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors KLHL6 89857 broad.mit.edu 36 3 184700167 184700168 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 184700167 184700168 GC AA DNP KLHL6 NM_130446 human genbank 54_36p -1 validated missense c.1052_1051 p.A351F 1.000:1.000 superfamily_Gal_oxid_central "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KLHL24 54800 broad.mit.edu 36 3 184879744 184879744 + Nonsense_Mutation SNP C C G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 184879744 184879744 C G SNP KLHL24 NM_017644 human genbank 54_36p 1 validated nonsense c.1779 p.Y593* 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors YEATS2 55689 broad.mit.edu 36 3 184924915 184924915 + Silent SNP T T A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 184924915 184924915 T A SNP YEATS2 NM_018023 human genbank 54_36p 1 provisional silent c.552 p.I184 0.01 NULL HMMPfam_YEATS - no_errors ABCC5 10057 broad.mit.edu 36 3 185121873 185121873 + Missense_Mutation SNP A A T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 185121873 185121873 A T SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed missense c.4223 p.F1408Y 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors HTR3C 170572 broad.mit.edu 36 3 185256761 185256761 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 185256761 185256761 G A SNP HTR3C NM_130770 human genbank 54_36p 1 reviewed missense c.382 p.V128M 0.29 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors HTR3E 285242 broad.mit.edu 36 3 185301983 185301983 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185301983 185301983 T C SNP HTR3E NM_182589 human genbank 54_36p 1 reviewed missense c.296 p.L99P 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors EIF2B5 8893 broad.mit.edu 36 3 185343300 185343300 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 185343300 185343300 G C SNP EIF2B5 NM_003907 human genbank 54_36p 1 validated missense c.1586 p.S529T 1 NULL "superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2" - no_errors EIF2B5 8893 broad.mit.edu 36 3 185344623 185344623 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185344623 185344623 C T SNP EIF2B5 NM_003907 human genbank 54_36p 1 validated missense c.1912 p.R638C 1 "HMMSmart_eIF5C,superfamily_ARM-type_fold" "HMMPfam_Hexapep,HMMPfam_W2,HMMSmart_eIF5C,superfamily_Trimer_LpxA_like,superfamily_ARM-type_fold,superfamily_SSF53448" - no_errors DVL3 1857 broad.mit.edu 36 3 185365317 185365317 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185365317 185365317 G A SNP DVL3 NM_004423 human genbank 54_36p 1 reviewed missense c.503 p.R168Q 1 HMMPfam_Dishevelled "HMMPfam_DIX,HMMSmart_DAX,HMMPfam_Dishevelled,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP" - no_errors ABCF3 55324 broad.mit.edu 36 3 185391721 185391721 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185391721 185391721 A T SNP ABCF3 NM_018358 human genbank 54_36p 1 validated missense c.1553 p.E518V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCF3 55324 broad.mit.edu 36 3 185393112 185393112 + Silent SNP C C G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185393112 185393112 C G SNP ABCF3 NM_018358 human genbank 54_36p 1 validated silent c.1599 p.T533 1 "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ECE2 9718 broad.mit.edu 36 3 185484334 185484334 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 185484334 185484334 C T SNP ECE2 NM_014693 human genbank 54_36p 1 validated missense c.1238 p.T413M 0.83 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_11,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors ECE2 9718 broad.mit.edu 36 3 185489944 185489944 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185489944 185489944 G A SNP ECE2 NM_014693 human genbank 54_36p 1 validated missense c.1754 p.R585Q 0.9 "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M13_N,HMMPfam_Methyltransf_11,HMMPfam_Peptidase_M13,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors EIF4G1 1981 broad.mit.edu 36 3 185523991 185523991 + Silent SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185523991 185523991 A G SNP EIF4G1 NM_182917 human genbank 54_36p 1 reviewed silent c.2190 p.A730 0.98 NULL "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2" - no_errors CHRD 8646 broad.mit.edu 36 3 185585115 185585115 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185585115 185585115 G A SNP CHRD NM_003741 human genbank 54_36p 1 reviewed missense c.1537 p.G513R 0.98 "HMMPfam_CHRD,HMMSmart_SM00754" "HMMPfam_VWC,HMMSmart_SM00214,HMMPfam_CHRD,HMMSmart_SM00754,PatternScan_VWFC_1" - no_errors CHRD 8646 broad.mit.edu 36 3 185587198 185587198 + Silent SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 185587198 185587198 G A SNP CHRD NM_003741 human genbank 54_36p 1 reviewed silent c.2157 p.A719 0.78 "HMMPfam_VWC,HMMSmart_SM00214" "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_CHRD,HMMSmart_SM00754" - no_errors EPHB3 2049 broad.mit.edu 36 3 185773023 185773023 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 185773023 185773023 C A SNP EPHB3 NM_004443 human genbank 54_36p 1 reviewed missense c.221 p.P74H 1 "superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd" ############################################################################################################################################################################################################################################################### - no_errors EPHB3 2049 broad.mit.edu 36 3 185780928 185780928 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185780928 185780928 G C SNP EPHB3 NM_004443 human genbank 54_36p 1 reviewed missense c.2217 p.L739F 1 "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like" ############################################################################################################################################################################################################################################################### - no_errors MAGEF1 64110 broad.mit.edu 36 3 185912104 185912104 + Nonsense_Mutation SNP A A T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 185912104 185912104 A T SNP MAGEF1 NM_022149 human genbank 54_36p -1 reviewed nonsense c.200 p.L67* 0 NULL HMMPfam_MAGE - no_errors MAGEF1 64110 broad.mit.edu 36 3 185912196 185912196 + Silent SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 185912196 185912196 G A SNP MAGEF1 NM_022149 human genbank 54_36p -1 reviewed silent c.108 p.R36 0 NULL HMMPfam_MAGE - no_errors VPS8 23355 broad.mit.edu 36 3 186068536 186068536 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 186068536 186068536 A G SNP VPS8 NM_001009921 human genbank 54_36p 1 validated missense c.1501 p.R501G 1 NULL "superfamily_WD40_like,superfamily_ARM-type_fold,superfamily_SSF57850,HMMSmart_RING" - no_errors C3orf70 285382 broad.mit.edu 36 3 186283923 186283923 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 186283923 186283923 T C SNP C3orf70 NM_001025266 human genbank 54_36p -1 predicted missense c.319 p.K107E 1 NULL NULL - no_errors EHHADH 1962 broad.mit.edu 36 3 186393440 186393440 + Silent SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 186393440 186393440 C G SNP EHHADH NM_001966 human genbank 54_36p -1 validated silent c.1440 p.V480 1 "PatternScan_3HCDH,superfamily_6DGDH_C_like,HMMPfam_3HCDH" "superfamily_SSF52096,HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE,superfamily_NAD(P)-bd,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,HMMPfam_3HCDH" - no_errors LIPH 200879 broad.mit.edu 36 3 186734077 186734077 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 186734077 186734077 C T SNP LIPH NM_139248 human genbank 54_36p -1 reviewed missense c.502 p.D168N 0.33 "superfamily_SSF53474,HMMPfam_Lipase" "PatternScan_LIPASE_SER,superfamily_SSF53474,HMMPfam_Lipase" - no_errors TRA2B 6434 broad.mit.edu 36 3 187122592 187122592 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 187122592 187122592 T C SNP TRA2B NM_004593 human genbank 54_36p -1 validated missense c.539 p.N180S 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors TRA2B 6434 broad.mit.edu 36 3 187124302 187124302 + Frame_Shift_Del DEL A - A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 3 187124302 187124302 A - DEL TRA2B NM_004593 human genbank 54_36p -1 validated frame_shift_del c.498 p.F166fs 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "(deletion:cds_exon[187124278,187124466])" no_errors ETV5 2119 broad.mit.edu 36 3 187305975 187305975 + Silent SNP T T A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 187305975 187305975 T A SNP ETV5 NM_004454 human genbank 54_36p -1 validated silent c.138 p.L46 0.99 HMMPfam_ETS_PEA3_N "HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors DNAJB11 51726 broad.mit.edu 36 3 187778186 187778186 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 187778186 187778186 C A SNP DNAJB11 NM_016306 human genbank 54_36p 1 validated missense c.359 p.T120N 1 superfamily_Chaperone J-domain "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP40/DnaJ peptide-binding domain,HMMPfam_DnaJ_C" - no_errors FETUB 26998 broad.mit.edu 36 3 187841533 187841533 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 187841533 187841533 C G SNP FETUB NM_014375 human genbank 54_36p 1 reviewed missense c.246 p.F82L 1 "HMMSmart_SM00043,superfamily_Cystatin/monellin,PatternScan_FETUIN_1,HMMPfam_Cystatin" "HMMSmart_SM00043,superfamily_Cystatin/monellin,PatternScan_FETUIN_1,HMMPfam_Cystatin,PatternScan_FETUIN_2" - no_errors KNG1 3827 broad.mit.edu 36 3 187942128 187942128 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 187942128 187942128 C T SNP KNG1 NM_001102416 human genbank 54_36p 1 validated missense c.1249 p.R417W 0.09 NULL "HMMSmart_SM00043,HMMPfam_Cystatin,superfamily_Cystatin/monellin,PatternScan_CYSTATIN" - no_errors RTP1 132112 broad.mit.edu 36 3 188400419 188400419 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 188400419 188400419 C T SNP RTP1 NM_153708 human genbank 54_36p 1 validated missense c.659 p.A220V 1 NULL NULL - no_errors RTP1 132112 broad.mit.edu 36 3 188400438 188400438 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 188400438 188400438 G A SNP RTP1 NM_153708 human genbank 54_36p 1 validated silent c.678 p.S226 0.63 NULL NULL - no_errors MASP1 5648 broad.mit.edu 36 3 188452221 188452221 + Silent SNP T T C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 188452221 188452221 T C SNP MASP1 NM_139125 human genbank 54_36p -1 reviewed silent c.906 p.P302 0.34 "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" ############################################################################################################################################################################################################################################################### - no_errors MASP1 5648 broad.mit.edu 36 3 188457170 188457170 + Silent SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 188457170 188457170 C A SNP MASP1 NM_139125 human genbank 54_36p -1 reviewed silent c.720 p.V240 1 "HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB" ############################################################################################################################################################################################################################################################### - no_errors BCL6 604 broad.mit.edu 36 3 188930009 188930009 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 188930009 188930009 T A SNP BCL6 NM_001706 human genbank 54_36p -1 reviewed missense c.878 p.Y293F 0.97 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors LPP 4026 broad.mit.edu 36 3 190074923 190074923 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 190074923 190074923 A C SNP LPP NM_005578 human genbank 54_36p 1 validated missense c.1801 p.I601L 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors TP63 8626 broad.mit.edu 36 3 190939252 190939252 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 190939252 190939252 A T SNP TP63 NM_003722 human genbank 54_36p 1 reviewed missense c.319 p.M107L 1 NULL "HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain" - no_errors TP63 8626 broad.mit.edu 36 3 191068418 191068418 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 191068418 191068418 A C SNP TP63 NM_003722 human genbank 54_36p 1 reviewed missense c.985 p.T329P 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "HMMSmart_SM00454,PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_P53" - no_errors LEPREL1 55214 broad.mit.edu 36 3 191320765 191320765 + Silent SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 191320765 191320765 G C SNP LEPREL1 NM_018192 human genbank 54_36p -1 validated silent c.450 p.P150 1 superfamily_TPR-like "superfamily_TPR-like,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy,PatternScan_ER_TARGET" - no_errors CLDN16 10686 broad.mit.edu 36 3 191608926 191608926 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 191608926 191608926 C A SNP CLDN16 NM_006580 human genbank 54_36p 1 reviewed missense c.722 p.A241D 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors FGF12 2257 broad.mit.edu 36 3 193608562 193608562 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 193608562 193608562 A G SNP FGF12 NM_021032 human genbank 54_36p -1 reviewed missense c.145 p.F49L 1 superfamily_Cytokine "superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors C3orf59 151963 broad.mit.edu 36 3 193999044 193999044 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 193999044 193999044 G C SNP C3orf59 NM_178496 human genbank 54_36p -1 validated missense c.1295 p.T432S 1 NULL NULL - no_errors C3orf59 151963 broad.mit.edu 36 3 193999851 193999851 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 193999851 193999851 C G SNP C3orf59 NM_178496 human genbank 54_36p -1 validated missense c.488 p.C163S 1 NULL NULL - no_errors HES1 3280 broad.mit.edu 36 3 195338685 195338685 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 195338685 195338685 C T SNP HES1 NM_005524 human genbank 54_36p 1 reviewed missense c.812 p.A271V 0.83 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMPfam_Hairy_orange,HMMSmart_ORANGE" - no_errors CPN2 1370 broad.mit.edu 36 3 195544077 195544077 + Silent SNP C C G novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 195544077 195544077 C G SNP CPN2 NM_001080513 human genbank 54_36p -1 validated silent c.1050 p.T350 0 "superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1" "HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT" - no_errors CPN2 1370 broad.mit.edu 36 3 195544478 195544478 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 195544478 195544478 C A SNP CPN2 NM_001080513 human genbank 54_36p -1 validated missense c.649 p.G217C 0 "HMMSmart_LRR_TYP,superfamily_SSF52047" "HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047" - no_errors LRRC15 131578 broad.mit.edu 36 3 195561776 195561776 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 195561776 195561776 A G SNP LRRC15 NM_130830 human genbank 54_36p -1 validated missense c.1292 p.I431T 0.99 "superfamily_SSF52058,HMMSmart_LRRCT" "superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT" - no_errors GP5 2814 broad.mit.edu 36 3 195599383 195599384 + Missense_Mutation DNP GG GG CA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 195599383 195599384 GG CA DNP GP5 NM_004488 human genbank 54_36p -1 validated missense c.918_917 p.P306L 0.000:0.197 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1" "superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT" - no_errors APOD 347 broad.mit.edu 36 3 196777115 196777115 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 196777115 196777115 A G SNP APOD NM_001647 human genbank 54_36p -1 reviewed missense c.515 p.I172T 0.99 "superfamily_Lipocalins,HMMPfam_Lipocalin_2" "superfamily_Lipocalins,PatternScan_LIPOCALIN,HMMPfam_Lipocalin_2" - no_errors APOD 347 broad.mit.edu 36 3 196777212 196777212 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 196777212 196777212 G T SNP APOD NM_001647 human genbank 54_36p -1 reviewed missense c.418 p.L140I 1 "superfamily_Lipocalins,HMMPfam_Lipocalin_2" "PatternScan_LIPOCALIN,superfamily_Lipocalins,HMMPfam_Lipocalin_2" - no_errors MUC4 4585 broad.mit.edu 36 3 196961495 196961495 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 196961495 196961495 T G SNP MUC4 NM_018406 human genbank 54_36p -1 reviewed missense c.6239 p.Y2080S 0.56 "superfamily_EGF/Laminin,HMMSmart_SM00181" "HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin" - no_errors MUC4 4585 broad.mit.edu 36 3 196977572 196977572 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 196977572 196977572 C A SNP MUC4 NM_018406 human genbank 54_36p -1 reviewed nonsense c.4147 p.E1383* 0.13 "HMMPfam_AMOP,HMMSmart_SM00723" "HMMPfam_VWD,HMMSmart_SM00216,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_AMOP,HMMSmart_SM00723,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin" - no_errors MUC4 4585 broad.mit.edu 36 3 196984202 196984202 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 196984202 196984202 C G SNP MUC4 NM_018406 human genbank 54_36p -1 reviewed missense c.3453 p.W1151C 1 HMMSmart_SM00539 "HMMPfam_VWD,HMMSmart_SM00216,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_AMOP,HMMSmart_SM00723,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin" - no_errors MUC4 4585 broad.mit.edu 36 3 197000647 197000647 + Silent SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 197000647 197000647 G C SNP MUC4 NM_018406 human genbank 54_36p -1 reviewed silent c.2199 p.S733 0.02 NULL "HMMPfam_VWD,HMMSmart_SM00216,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_AMOP,HMMSmart_SM00723,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin" - no_errors TNK2 10188 broad.mit.edu 36 3 197079665 197079665 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 197079665 197079665 G A SNP TNK2 NM_001010938 human genbank 54_36p -1 reviewed missense c.2090 p.T697M 1 NULL "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_GTPase_binding" - no_errors TFRC 7037 broad.mit.edu 36 3 197264753 197264753 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 3 197264753 197264753 G C SNP TFRC NM_003234 human genbank 54_36p -1 validated missense c.1973 p.T658R 0.04 "superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" "superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" - no_errors ZDHHC19 131540 broad.mit.edu 36 3 197409615 197409615 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 197409615 197409615 G A SNP ZDHHC19 NM_001039617 human genbank 54_36p -1 validated missense c.878 p.A293V 0 NULL HMMPfam_zf-DHHC - no_errors PCYT1A 5130 broad.mit.edu 36 3 197481734 197481734 + Silent SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 3 197481734 197481734 G A SNP PCYT1A NM_005017 human genbank 54_36p -1 provisional silent c.66 p.N22 1 NULL "superfamily_SSF52374,HMMPfam_CTP_transf_2" - no_errors UBXN7 26043 broad.mit.edu 36 3 197603086 197603086 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 197603086 197603086 C G SNP UBXN7 NM_015562 human genbank 54_36p -1 validated missense c.463 p.E155Q 1 HMMSmart_SM00594 "superfamily_UBA-like,HMMSmart_SM00594,HMMSmart_SM00166,HMMPfam_UBX,superfamily_Ubiquitin-like" - no_errors C3orf43 255798 broad.mit.edu 36 3 197719526 197719526 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 197719526 197719526 G A SNP C3orf43 NM_001077657 human genbank 54_36p -1 validated missense c.274 p.L92F 0.87 NULL NULL - no_errors LRRC33 375387 broad.mit.edu 36 3 197872123 197872123 + Silent SNP G G C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 197872123 197872123 G C SNP LRRC33 NM_198565 human genbank 54_36p 1 provisional silent c.1212 p.L404 0.18 "superfamily_SSF52058,HMMSmart_LRR_TYP" "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors LRRC33 375387 broad.mit.edu 36 3 197872846 197872846 + Silent SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 197872846 197872846 G T SNP LRRC33 NM_198565 human genbank 54_36p 1 provisional silent c.1935 p.R645 0.24 NULL "HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors C3orf34 84984 broad.mit.edu 36 3 197918835 197918835 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 197918835 197918835 G A SNP C3orf34 NM_032898 human genbank 54_36p -1 validated missense c.476 p.S159L 1 NULL NULL - no_errors PIGZ 80235 broad.mit.edu 36 3 198158883 198158883 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 198158883 198158883 C T SNP PIGZ NM_025163 human genbank 54_36p -1 reviewed missense c.1282 p.G428S 1 HMMPfam_Glyco_transf_22 HMMPfam_Glyco_transf_22 - no_errors PIGZ 80235 broad.mit.edu 36 3 198163285 198163285 + Silent SNP T T A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 3 198163285 198163285 T A SNP PIGZ NM_025163 human genbank 54_36p -1 reviewed silent c.15 p.G5 0 NULL HMMPfam_Glyco_transf_22 - no_errors DLG1 1739 broad.mit.edu 36 3 198276997 198276997 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 198276997 198276997 T C SNP DLG1 NM_004087 human genbank 54_36p -1 validated missense c.2278 p.K760E 1 "superfamily_SH3-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072" ############################################################################################################################################################################################################################################################### - no_errors DLG1 1739 broad.mit.edu 36 3 198327346 198327346 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 3 198327346 198327346 G C SNP DLG1 NM_004087 human genbank 54_36p -1 validated missense c.1391 p.P464R 1 "superfamily_PDZ domain-like,HMMPfam_PDZ_assoc" ############################################################################################################################################################################################################################################################### - no_errors BDH1 622 broad.mit.edu 36 3 198757635 198757635 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 198757635 198757635 C A SNP BDH1 NM_004051 human genbank 54_36p -1 reviewed missense c.77 p.G26V 0.09 NULL "superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors LMLN 89782 broad.mit.edu 36 3 199171527 199171527 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 199171527 199171527 G T SNP LMLN NM_033029 human genbank 54_36p 1 reviewed missense c.38 p.W13L 0 NULL "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M8" - no_errors ZNF718 255403 broad.mit.edu 36 4 145481 145481 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 145481 145481 G C SNP ZNF718 ENST00000400172 human ensembl 54_36p 1 known missense c.345 p.E115D 1 NULL NULL - no_errors ZNF721 170960 broad.mit.edu 36 4 426638 426638 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 426638 426638 G A SNP ZNF721 NM_133474 human genbank 54_36p -1 validated nonsense c.1618 p.Q540* 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PIGG 54872 broad.mit.edu 36 4 505043 505043 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 505043 505043 G A SNP PIGG ENST00000383028 human ensembl 54_36p 1 known missense c.914 p.G305E 1 NULL superfamily_Alkaline_phosphatase_core - no_errors PIGG 54872 broad.mit.edu 36 4 514498 514498 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 514498 514498 G A SNP PIGG NM_017733 human genbank 54_36p 1 validated missense c.2511 p.M837I 1 NULL superfamily_Alkaline_phosphatase_core - no_errors PDE6B 5158 broad.mit.edu 36 4 650316 650322 + Splice_Site DEL CCAGCCT - CCAGCCT novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W CCAGCCT CCAGCCT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 650316 650322 CCAGCCT - DEL PDE6B NM_000283 human genbank 54_36p 1 reviewed splice_site_del c.2269-4_2269-1 e20-1 0.000:0.073:0.987:1.000:1.000:1.000:0.998 - - "(deletion:intron[649119,650319], cds_exon[650320,650403])" no_errors MFSD7 84179 broad.mit.edu 36 4 670353 670353 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 670353 670353 A C SNP MFSD7 NM_032219 human genbank 54_36p -1 provisional missense c.262 p.W88G 0.97 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors FGFRL1 53834 broad.mit.edu 36 4 1006193 1006193 + Silent SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 1006193 1006193 C T SNP FGFRL1 NM_001004356 human genbank 54_36p 1 reviewed silent c.282 p.A94 0.76 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG" - no_errors MAEA 10296 broad.mit.edu 36 4 1295928 1295928 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 1295928 1295928 G C SNP MAEA NM_001017405 human genbank 54_36p 1 reviewed missense c.231 p.K77N 1 NULL "HMMSmart_SM00667,HMMSmart_SM00668,HMMSmart_SM00757,superfamily_RING/U-box" - no_errors CRIPAK 285464 broad.mit.edu 36 4 1379118 1379118 + Silent SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 1379118 1379118 G A SNP CRIPAK NM_175918 human genbank 54_36p 1 validated silent c.819 p.T273 0 HMMSmart_PostSET HMMSmart_PostSET - no_errors TACC3 10460 broad.mit.edu 36 4 1699370 1699370 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 1699370 1699370 C T SNP TACC3 NM_006342 human genbank 54_36p 1 reviewed missense c.443 p.A148V 0 NULL HMMPfam_TACC - no_errors TACC3 10460 broad.mit.edu 36 4 1700162 1700162 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 1700162 1700162 A G SNP TACC3 NM_006342 human genbank 54_36p 1 reviewed missense c.1235 p.D412G 1 NULL HMMPfam_TACC - no_errors TACC3 10460 broad.mit.edu 36 4 1712463 1712482 + Frame_Shift_Del DEL CTTCAAGCGTTTTGAGAAAC - CTTCAAGCGTTTTGAGAAAC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CTTCAAGCGTTTTGAGAAAC CTTCAAGCGTTTTGAGAAAC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 1712463 1712482 CTTCAAGCGTTTTGAGAAAC - DEL TACC3 NM_006342 human genbank 54_36p 1 reviewed frame_shift_del c.2175_2194 p.F726fs 0.996:1.000:1.000:1.000:1.000:1.000:0.997:0.993:0.984:0.017:0.024:0.035:0.020:0.997:1.000:0.999:1.000:1.000:1.000:1.000 HMMPfam_TACC HMMPfam_TACC "(deletion:cds_exon[1712351,1712511])" no_errors FGFR3 2261 broad.mit.edu 36 4 1777374 1777374 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 1777374 1777374 G T SNP FGFR3 NM_000142 human genbank 54_36p 1 reviewed missense c.1745 p.C582F 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors WHSC1 7468 broad.mit.edu 36 4 1889755 1889755 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 1889755 1889755 G A SNP WHSC1 NM_001042424 human genbank 54_36p 1 reviewed silent c.1017 p.E339 1 superfamily_Tudor/PWWP/MBT ############################################################################################################################################################################################################################################################### - no_errors WHSC2 7469 broad.mit.edu 36 4 1955019 1955019 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 1955019 1955019 C A SNP WHSC2 NM_005663 human genbank 54_36p -1 reviewed missense c.1412 p.C471F 1 NULL NULL - no_errors POLN 353497 broad.mit.edu 36 4 2044518 2044518 + Splice_Site SNP A A C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 2044518 2044518 A C SNP POLN ENST00000253313 human ensembl 54_36p -1 known splice_site c.1563+2 e19+2 0.11 - - - no_stop_codon FAM193A 8603 broad.mit.edu 36 4 2618296 2618296 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 2618296 2618296 G A SNP C4orf8 NM_003704 human genbank 54_36p 1 validated missense c.377 p.R126H 0.35 NULL NULL - no_errors SH3BP2 6452 broad.mit.edu 36 4 2792266 2792267 + Missense_Mutation DNP CA CA AT novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 2792266 2792267 CA AT DNP SH3BP2 NM_003023 human genbank 54_36p 1 reviewed missense c.124_125 p.Q42M 1.000:1.000 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors HTT 3064 broad.mit.edu 36 4 3178152 3178152 + Silent SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 3178152 3178152 C T SNP HTT NM_002111 human genbank 54_36p 1 reviewed silent c.5850 p.S1950 0.99 NULL "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors HTT 3064 broad.mit.edu 36 4 3191722 3191722 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 3191722 3191722 T A SNP HTT NM_002111 human genbank 54_36p 1 reviewed missense c.7258 p.W2420R 1 NULL "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors HTT 3064 broad.mit.edu 36 4 3210135 3210135 + Splice_Site SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 3210135 3210135 G T SNP HTT NM_002111 human genbank 54_36p 1 reviewed splice_site c.9054+1 e65+1 1 - - - no_errors OTOP1 133060 broad.mit.edu 36 4 4250428 4250428 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 4250428 4250428 G A SNP OTOP1 NM_177998 human genbank 54_36p -1 provisional missense c.1034 p.S345L 0.98 HMMPfam_DUF270 HMMPfam_DUF270 - no_errors MSX1 4487 broad.mit.edu 36 4 4915395 4915395 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 4915395 4915395 T G SNP MSX1 NM_002448 human genbank 54_36p 1 reviewed missense c.536 p.F179C 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors EVC2 132884 broad.mit.edu 36 4 5675225 5675225 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 5675225 5675225 G A SNP EVC2 NM_147127 human genbank 54_36p -1 validated missense c.2441 p.A814V 0.01 NULL NULL - no_errors C4orf50 389197 broad.mit.edu 36 4 6026355 6026355 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 6026355 6026355 G T SNP FLJ46481 NM_207405 human genbank 54_36p -1 predicted missense c.340 p.Q114K 0 NULL NULL - no_errors JAKMIP1 152789 broad.mit.edu 36 4 6137542 6137542 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 6137542 6137542 C T SNP JAKMIP1 NM_001099433 human genbank 54_36p -1 validated missense c.886 p.E296K 1 NULL NULL - no_errors PPP2R2C 5522 broad.mit.edu 36 4 6425167 6425167 + Silent SNP G G T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 6425167 6425167 G T SNP PPP2R2C NM_020416 human genbank 54_36p -1 reviewed silent c.609 p.I203 1 "superfamily_WD40 repeat-like,HMMPfam_PP2A_B_subs_rcg" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2" - no_errors PPP2R2C 5522 broad.mit.edu 36 4 6425275 6425275 + Silent SNP G G T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 6425275 6425275 G T SNP PPP2R2C NM_020416 human genbank 54_36p -1 reviewed silent c.501 p.I167 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_subs_rcg" "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_PR55_1,PatternScan_PR55_2,HMMPfam_PP2A_B_N,HMMPfam_PP2A_B_subs_rcg" - no_errors MAN2B2 23324 broad.mit.edu 36 4 6645974 6645974 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 6645974 6645974 C G SNP MAN2B2 NM_015274 human genbank 54_36p 1 validated missense c.854 p.P285R 1 "superfamily_Glycoside hydrolase/deacetylase,HMMPfam_Glyco_hydro_38" "superfamily_Glycoside hydrolase/deacetylase,HMMPfam_Glyco_hydro_38,superfamily_Families 57/38 glycoside transferase middle domain,HMMPfam_Alpha-mann_mid,superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C" - no_errors MAN2B2 23324 broad.mit.edu 36 4 6649768 6649768 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 6649768 6649768 A G SNP MAN2B2 NM_015274 human genbank 54_36p 1 validated missense c.1085 p.Y362C 1 "HMMPfam_Alpha-mann_mid,superfamily_Families 57/38 glycoside transferase middle domain" "HMMPfam_Glyco_hydro_38,superfamily_Galactose mutarotase-like,superfamily_Glycoside hydrolase/deacetylase,HMMPfam_Glyco_hydro_38C,HMMPfam_Alpha-mann_mid,superfamily_Families 57/38 glycoside transferase middle domain" - no_errors MAN2B2 23324 broad.mit.edu 36 4 6650855 6650855 + Silent SNP T T A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 6650855 6650855 T A SNP MAN2B2 NM_015274 human genbank 54_36p 1 validated silent c.1278 p.T426 0.96 "HMMPfam_Alpha-mann_mid,superfamily_Families 57/38 glycoside transferase middle domain" "HMMPfam_Glyco_hydro_38,superfamily_Galactose mutarotase-like,superfamily_Glycoside hydrolase/deacetylase,HMMPfam_Glyco_hydro_38C,HMMPfam_Alpha-mann_mid,superfamily_Families 57/38 glycoside transferase middle domain" - no_errors CNO 55330 broad.mit.edu 36 4 6769194 6769194 + Silent SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 6769194 6769194 G C SNP CNO NM_018366 human genbank 54_36p 1 reviewed silent c.357 p.P119 0.19 NULL NULL - no_errors KIAA0232 9778 broad.mit.edu 36 4 6913893 6913893 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 6913893 6913893 G T SNP KIAA0232 NM_001100590 human genbank 54_36p 1 validated missense c.883 p.A295S 1 NULL NULL - no_errors TADA2B 93624 broad.mit.edu 36 4 7107290 7107291 + Missense_Mutation DNP CT CT AG novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 7107290 7107291 CT AG DNP TADA2B NM_152293 human genbank 54_36p 1 validated missense c.871_872 p.L291R 1.000:1.000 NULL "HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors SORCS2 57537 broad.mit.edu 36 4 7766982 7766982 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 7766982 7766982 G A SNP SORCS2 NM_020777 human genbank 54_36p 1 reviewed missense c.1655 p.R552Q 0.86 HMMSmart_SM00602 "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PKD" - no_errors HTRA3 94031 broad.mit.edu 36 4 8346768 8346768 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 8346768 8346768 G A SNP HTRA3 NM_053044 human genbank 54_36p 1 provisional missense c.991 p.A331T 1 "superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin" "HMMSmart_SM00121,HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" - no_errors C4orf23 152992 broad.mit.edu 36 4 8528564 8528564 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 8528564 8528564 C T SNP C4orf23 NM_152544 human genbank 54_36p 1 predicted missense c.1034 p.P345L 1 NULL HMMPfam_AdoMet_MTase - no_errors GPR78 27201 broad.mit.edu 36 4 8635192 8635192 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 8635192 8635192 C T SNP GPR78 NM_080819 human genbank 54_36p 1 validated missense c.703 p.R235C 0.81 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors CPZ 8532 broad.mit.edu 36 4 8656714 8656714 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 8656714 8656714 G A SNP CPZ NM_001014447 human genbank 54_36p 1 reviewed missense c.608 p.R203H 1 "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Carboxypeptidase regulatory domain" - no_errors CLNK 116449 broad.mit.edu 36 4 10182479 10182479 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 10182479 10182479 T C SNP CLNK NM_052964 human genbank 54_36p -1 validated missense c.134 p.K45R 0.02 NULL "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors RAB28 9364 broad.mit.edu 36 4 12979362 12979362 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 12979362 12979362 T G SNP RAB28 NM_001017979 human genbank 54_36p -1 provisional missense c.584 p.K195T 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors RAB28 9364 broad.mit.edu 36 4 12992272 12992272 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 12992272 12992272 G A SNP RAB28 NM_001017979 human genbank 54_36p -1 provisional missense c.436 p.R146W 1 "HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors BOD1L 259282 broad.mit.edu 36 4 13212791 13212791 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 13212791 13212791 T C SNP BOD1L NM_148894 human genbank 54_36p -1 validated missense c.4831 p.K1611E 1 superfamily_SSF81995 "superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors BOD1L 259282 broad.mit.edu 36 4 13213992 13213992 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 13213992 13213992 T A SNP BOD1L NM_148894 human genbank 54_36p -1 validated missense c.3630 p.Q1210H 0 superfamily_SSF81995 "HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF81995" - no_errors CC2D2A 57545 broad.mit.edu 36 4 15178202 15178202 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 15178202 15178202 A C SNP CC2D2A NM_001080522 human genbank 54_36p 1 validated missense c.3287 p.Q1096P 1 HMMSmart_C2 HMMSmart_C2 - no_errors CD38 952 broad.mit.edu 36 4 15427354 15427354 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 15427354 15427354 G C SNP CD38 NM_001775 human genbank 54_36p 1 validated missense c.356 p.C119S 0.94 "superfamily_ADP ribosyl cyclase-like,HMMPfam_Rib_hydrolayse" "superfamily_ADP ribosyl cyclase-like,HMMPfam_Rib_hydrolayse" - no_errors CD38 952 broad.mit.edu 36 4 15444986 15444986 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 15444986 15444986 A T SNP CD38 NM_001775 human genbank 54_36p 1 validated missense c.548 p.N183I 0 "HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like" "HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like" - no_errors PROM1 8842 broad.mit.edu 36 4 15596715 15596715 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 15596715 15596715 T C SNP PROM1 NM_006017 human genbank 54_36p -1 reviewed missense c.2174 p.N725S 0.84 HMMPfam_Prominin HMMPfam_Prominin - no_errors PPARGC1A 10891 broad.mit.edu 36 4 23406550 23406550 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 23406550 23406550 C T SNP PPARGC1A NM_013261 human genbank 54_36p -1 reviewed missense c.2390 p.R797H 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors PPARGC1A 10891 broad.mit.edu 36 4 23425162 23425162 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 23425162 23425162 C T SNP PPARGC1A NM_013261 human genbank 54_36p -1 reviewed missense c.1042 p.G348R 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors PI4K2B 55300 broad.mit.edu 36 4 24867331 24867331 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 24867331 24867331 G A SNP PI4K2B NM_018323 human genbank 54_36p 1 validated silent c.693 p.K231 1 HMMPfam_PI3_PI4_kinase "PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_PI3_PI4_kinase" - no_errors PI4K2B 55300 broad.mit.edu 36 4 24871247 24871247 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 24871247 24871247 G C SNP PI4K2B NM_018323 human genbank 54_36p 1 validated missense c.914 p.R305T 1 HMMPfam_PI3_PI4_kinase "HMMPfam_PI3_PI4_kinase,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors ZCCHC4 29063 broad.mit.edu 36 4 24944072 24944072 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 24944072 24944072 A C SNP ZCCHC4 NM_024936 human genbank 54_36p 1 validated missense c.499 p.K167Q 1 NULL "HMMPfam_zf-GRF,PatternScan_N6_MTASE,HMMSmart_ZnF_C2HC" - no_errors ZCCHC4 29063 broad.mit.edu 36 4 24972582 24972582 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 24972582 24972582 G C SNP ZCCHC4 NM_024936 human genbank 54_36p 1 validated missense c.1015 p.D339H 1 NULL "HMMSmart_ZnF_C2HC,PatternScan_N6_MTASE,HMMPfam_zf-GRF" - no_errors ANAPC4 29945 broad.mit.edu 36 4 25001688 25001688 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 25001688 25001688 G C SNP ANAPC4 NM_013367 human genbank 54_36p 1 reviewed missense c.658 p.V220L 1 NULL superfamily_WD40 repeat-like - no_errors SEL1L3 23231 broad.mit.edu 36 4 25428885 25428885 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 25428885 25428885 C T SNP KIAA0746 NM_015187 human genbank 54_36p -1 validated missense c.1537 p.A513T 0.76 superfamily_HCP-like "superfamily_HCP-like,HMMSmart_SM00671,HMMPfam_Sel1" - no_errors PCDH7 5099 broad.mit.edu 36 4 30334217 30334217 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 30334217 30334217 G A SNP PCDH7 NM_032457 human genbank 54_36p 1 reviewed missense c.1934 p.G645E 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMPfam_Protocadherin" - no_errors ARAP2 116984 broad.mit.edu 36 4 35906815 35906816 + Missense_Mutation DNP CC CC AT novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 35906815 35906816 CC AT DNP ARAP2 NM_015230 human genbank 54_36p -1 reviewed missense c.689_688 p.G230I 0.001:0.001 NULL ############################################################################################################################################################################################################################################################### - no_errors ARAP2 116984 broad.mit.edu 36 4 35907369 35907369 + Silent SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 35907369 35907369 C T SNP ARAP2 NM_015230 human genbank 54_36p -1 reviewed silent c.135 p.L45 0.36 "HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain" ############################################################################################################################################################################################################################################################### - no_errors TBC1D1 23216 broad.mit.edu 36 4 37692887 37692887 + Silent SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 37692887 37692887 C T SNP TBC1D1 NM_015173 human genbank 54_36p 1 validated silent c.780 p.F260 0.01 "HMMSmart_SM00462,superfamily_PH domain-like,HMMPfam_PID" "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_LECTIN_LEGUME_BETA,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors KLF3 51274 broad.mit.edu 36 4 38367814 38367814 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 38367814 38367814 C T SNP KLF3 NM_016531 human genbank 54_36p 1 validated missense c.614 p.P205L 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TLR6 10333 broad.mit.edu 36 4 38506153 38506153 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 38506153 38506153 C G SNP TLR6 NM_006068 human genbank 54_36p -1 reviewed missense c.1337 p.R446T 1 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors FAM114A1 92689 broad.mit.edu 36 4 38583833 38583833 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 38583833 38583833 T G SNP FAM114A1 NM_138389 human genbank 54_36p 1 predicted missense c.613 p.S205A 0.84 HMMPfam_DUF719 HMMPfam_DUF719 - no_errors TMEM156 80008 broad.mit.edu 36 4 38671859 38671859 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 38671859 38671859 C A SNP TMEM156 NM_024943 human genbank 54_36p -1 provisional missense c.513 p.M171I 0 NULL NULL - no_errors RFC1 5981 broad.mit.edu 36 4 39004595 39004595 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 39004595 39004595 G C SNP RFC1 NM_002913 human genbank 54_36p -1 reviewed missense c.625 p.L209V 0.99 NULL "superfamily_BRCT,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,superfamily_Pol_clamp_load_C,HMMPfam_RFC1" - no_errors LIAS 11019 broad.mit.edu 36 4 39137146 39137151 + In_Frame_Del DEL GCGGGG - GCGGGG novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 GCGGGG GCGGGG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 39137146 39137151 GCGGGG - DEL LIAS NM_006859 human genbank 54_36p 1 reviewed in_frame_del c.14_19 p.CGD5in_frame_delY 0.998:0.969:0.894:0.870:0.785:0.761 NULL "superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM" "(deletion:cds_exon[39137133,39137177])" no_errors LIAS 11019 broad.mit.edu 36 4 39145588 39145588 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 39145588 39145588 G T SNP LIAS NM_006859 human genbank 54_36p 1 reviewed missense c.664 p.A222S 1 "superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM" "superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM" - no_errors UGDH 7358 broad.mit.edu 36 4 39178193 39178193 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 39178193 39178193 G A SNP UGDH NM_003359 human genbank 54_36p -1 reviewed missense c.1450 p.L484F 1 NULL "HMMPfam_UDPG_MGDP_dh_N,superfamily_NAD(P)-bd,HMMPfam_UDPG_MGDP_dh,superfamily_6DGDH_C_like,superfamily_UDP-Glc/GDP-Man_DH_C,HMMPfam_UDPG_MGDP_dh_C" - no_errors RHOH 399 broad.mit.edu 36 4 39921469 39921469 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 39921469 39921469 G A SNP RHOH NM_004310 human genbank 54_36p 1 validated missense c.68 p.R23H 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors CHRNA9 55584 broad.mit.edu 36 4 40050753 40050753 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 40050753 40050753 G A SNP CHRNA9 NM_017581 human genbank 54_36p 1 reviewed missense c.899 p.G300D 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors RBM47 54502 broad.mit.edu 36 4 40135541 40135541 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 40135541 40135541 C A SNP RBM47 NM_001098634 human genbank 54_36p -1 validated missense c.127 p.G43C 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors APBB2 323 broad.mit.edu 36 4 40523994 40523994 + Splice_Site SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 40523994 40523994 C T SNP APBB2 NM_173075 human genbank 54_36p -1 validated splice_site c.1579-1 e9-1 1 - - - no_errors APBB2 323 broad.mit.edu 36 4 40587200 40587200 + Silent SNP G G A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 40587200 40587200 G A SNP APBB2 NM_173075 human genbank 54_36p -1 validated silent c.1401 p.S467 0.11 "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" - no_errors LIMCH1 22998 broad.mit.edu 36 4 41389128 41389128 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 41389128 41389128 A C SNP LIMCH1 NM_014988 human genbank 54_36p 1 validated missense c.3196 p.N1066H 1 "HMMSmart_SM00132,HMMPfam_LIM" "HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors PHOX2B 8929 broad.mit.edu 36 4 41444218 41444218 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 41444218 41444218 C G SNP PHOX2B NM_003924 human genbank 54_36p -1 reviewed missense c.334 p.E112Q 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors GABRA4 2557 broad.mit.edu 36 4 46673881 46673881 + Silent SNP C C G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 46673881 46673881 C G SNP GABRA4 NM_000809 human genbank 54_36p -1 reviewed silent c.531 p.V177 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors ATP10D 57205 broad.mit.edu 36 4 47232703 47232703 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 47232703 47232703 A C SNP ATP10D NM_020453 human genbank 54_36p 1 validated missense c.911 p.N304T 1 HMMPfam_E1-E2_ATPase "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3" - no_errors ATP10D 57205 broad.mit.edu 36 4 47254715 47254715 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 47254715 47254715 A T SNP ATP10D NM_020453 human genbank 54_36p 1 validated missense c.2102 p.D701V 0 superfamily_HAD-like "HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors CNGA1 1259 broad.mit.edu 36 4 47633341 47633341 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 47633341 47633341 G A SNP CNGA1 NM_000087 human genbank 54_36p -1 reviewed nonsense c.1927 p.R643* 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors SLC10A4 201780 broad.mit.edu 36 4 48180902 48180903 + Missense_Mutation DNP GG GG AC novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 48180902 48180903 GG AC DNP SLC10A4 NM_152679 human genbank 54_36p 1 validated missense c.567_568 p.V190L 1.000:1.000 HMMPfam_SBF HMMPfam_SBF - no_errors FRYL 285527 broad.mit.edu 36 4 48254319 48254319 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 48254319 48254319 C G SNP FRYL NM_015030 human genbank 54_36p -1 validated missense c.4033 p.V1345L 1 NULL superfamily_ARM repeat - no_errors CWH43 80157 broad.mit.edu 36 4 48700604 48700604 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 48700604 48700604 C A SNP FLJ21511 NM_025087 human genbank 54_36p 1 validated missense c.898 p.Q300K 0.39 NULL NULL - no_errors DCUN1D4 23142 broad.mit.edu 36 4 52435203 52435203 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 52435203 52435203 G C SNP DCUN1D4 NM_001040402 human genbank 54_36p 1 validated missense c.146 p.R49P 1 NULL HMMPfam_DUF298 - no_errors DCUN1D4 23142 broad.mit.edu 36 4 52438706 52438706 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 52438706 52438706 C T SNP DCUN1D4 NM_001040402 human genbank 54_36p 1 validated missense c.272 p.S91L 1 NULL HMMPfam_DUF298 - no_errors LRRC66 339977 broad.mit.edu 36 4 52555527 52555527 + Silent SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 52555527 52555527 G C SNP LRRC66 NM_001024611 human genbank 54_36p -1 provisional silent c.2418 p.P806 0.01 NULL "superfamily_SSF52058,HMMPfam_LRR_1" - no_errors SPATA18 132671 broad.mit.edu 36 4 52633059 52633059 + Silent SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 52633059 52633059 G A SNP SPATA18 NM_145263 human genbank 54_36p 1 provisional silent c.738 p.E246 0.97 NULL NULL - no_errors USP46 64854 broad.mit.edu 36 4 53171479 53171479 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 53171479 53171479 A G SNP USP46 NM_022832 human genbank 54_36p -1 validated missense c.623 p.I208T 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors RASL11B 65997 broad.mit.edu 36 4 53426614 53426614 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 53426614 53426614 C T SNP RASL11B NM_023940 human genbank 54_36p 1 provisional missense c.632 p.P211L 0.18 NULL "superfamily_SSF52540,HMMPfam_Miro" - no_errors LNX1 84708 broad.mit.edu 36 4 54042704 54042704 + Silent SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 54042704 54042704 G A SNP LNX1 NM_032622 human genbank 54_36p -1 reviewed silent c.1137 p.A379 0.31 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors LNX1 84708 broad.mit.edu 36 4 54118881 54118881 + Silent SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 54118881 54118881 C T SNP LNX1 NM_032622 human genbank 54_36p -1 reviewed silent c.9 p.A3 1 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ" - no_errors PDGFRA 5156 broad.mit.edu 36 4 54824777 54824777 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 54824777 54824777 G A SNP PDGFRA NM_006206 human genbank 54_36p 1 reviewed missense c.554 p.G185E 0.92 "superfamily_Immunoglobulin,HMMSmart_SM00409" ############################################################################################################################################################################################################################################################### - no_errors PDGFRA 5156 broad.mit.edu 36 4 54833372 54833372 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 54833372 54833372 A G SNP PDGFRA NM_006206 human genbank 54_36p 1 reviewed missense c.1292 p.Q431R 1 superfamily_Immunoglobulin ############################################################################################################################################################################################################################################################### - no_errors PDGFRA 5156 broad.mit.edu 36 4 54839404 54839404 + Silent SNP C C A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 54839404 54839404 C A SNP PDGFRA NM_006206 human genbank 54_36p 1 reviewed silent c.2121 p.I707 0.98 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors KIT 3815 broad.mit.edu 36 4 55268073 55268073 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 55268073 55268073 C T SNP KIT NM_000222 human genbank 54_36p 1 reviewed silent c.978 p.N326 0.15 "HMMSmart_IG,superfamily_SSF48726" "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors KIT 3815 broad.mit.edu 36 4 55299416 55299416 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 55299416 55299416 G A SNP KIT NM_000222 human genbank 54_36p 1 reviewed missense c.2867 p.R956Q 1 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors KIT 3815 broad.mit.edu 36 4 55299419 55299419 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 55299419 55299419 T C SNP KIT NM_000222 human genbank 54_36p 1 reviewed missense c.2870 p.I957T 1 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors KIT 3815 broad.mit.edu 36 4 55299430 55299430 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 55299430 55299430 G A SNP KIT NM_000222 human genbank 54_36p 1 reviewed missense c.2881 p.G961S 0.99 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors NMU 10874 broad.mit.edu 36 4 56191372 56191372 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 56191372 56191372 A T SNP NMU NM_006681 human genbank 54_36p -1 validated nonsense c.125 p.L42* 0.32 NULL "HMMPfam_NMU,HMMSmart_NMU,PatternScan_NMU" - no_errors EXOC1 55763 broad.mit.edu 36 4 56421433 56421433 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 56421433 56421433 T C SNP EXOC1 NM_001024924 human genbank 54_36p 1 reviewed missense c.224 p.L75P 1 NULL HMMPfam_Sec3 - no_errors CEP135 9662 broad.mit.edu 36 4 56560533 56560533 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 56560533 56560533 A G SNP CEP135 NM_025009 human genbank 54_36p 1 validated missense c.2245 p.K749E 1 NULL superfamily_Prefoldin - no_errors KIAA1211 57482 broad.mit.edu 36 4 56876077 56876077 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 56876077 56876077 C G SNP KIAA1211 NM_020722 human genbank 54_36p 1 validated missense c.1652 p.P551R 1 NULL NULL - no_errors REST 5978 broad.mit.edu 36 4 57472321 57472324 + Frame_Shift_Del DEL ACAT - - novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W ACAT ACAT - - ACAT ACAT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 57472321 57472324 ACAT - DEL REST NM_005612 human genbank 54_36p 1 reviewed frame_shift_del c.760_763 p.Y255fs 0.994:0.996:0.921:1.000 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[57471562,57472459])" no_errors EPHA5 2044 broad.mit.edu 36 4 65899765 65899765 + Silent SNP T T C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 65899765 65899765 T C SNP EPHA5 NM_004439 human genbank 54_36p -1 reviewed silent c.2445 p.K815 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors EPHA5 2044 broad.mit.edu 36 4 66150299 66150299 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 66150299 66150299 C T SNP EPHA5 NM_004439 human genbank 54_36p -1 reviewed missense c.565 p.G189S 1 "HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors GNRHR 2798 broad.mit.edu 36 4 68302523 68302523 + Silent SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 68302523 68302523 A G SNP GNRHR NM_000406 human genbank 54_36p -1 reviewed silent c.126 p.T42 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors YTHDC1 91746 broad.mit.edu 36 4 68867041 68867041 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 68867041 68867041 G A SNP YTHDC1 NM_001031732 human genbank 54_36p -1 validated nonsense c.1723 p.R575* 1 NULL HMMPfam_YTH - no_errors UGT2B17 7367 broad.mit.edu 36 4 69116706 69116706 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 69116706 69116706 G A SNP UGT2B17 NM_001077 human genbank 54_36p -1 provisional missense c.92 p.T31I 0.13 "superfamily_SSF53756,HMMPfam_UDPGT" "superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT2B10 7365 broad.mit.edu 36 4 69716510 69716510 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 69716510 69716510 C A SNP UGT2B10 NM_001075 human genbank 54_36p 1 validated missense c.184 p.L62I 0 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT2B10 7365 broad.mit.edu 36 4 69716716 69716716 + Silent SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 69716716 69716716 T C SNP UGT2B10 NM_001075 human genbank 54_36p 1 validated silent c.390 p.V130 0 "HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" "HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase" - no_errors UGT2B7 7364 broad.mit.edu 36 4 70008630 70008630 + Splice_Site SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 70008630 70008630 G C SNP UGT2B7 NM_001074 human genbank 54_36p 1 validated splice_site c.1310+1 e5+1 1 - - - no_errors UGT2A1 10941 broad.mit.edu 36 4 70547567 70547567 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 70547567 70547567 C A SNP UGT2A1 NM_006798 human genbank 54_36p -1 validated missense c.385 p.V129F 1 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors SULT1E1 6783 broad.mit.edu 36 4 70748004 70748004 + Splice_Site SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 70748004 70748004 C T SNP SULT1E1 NM_005420 human genbank 54_36p -1 reviewed splice_site c.591+1 e5+1 0.99 - - - no_errors ODAM 54959 broad.mit.edu 36 4 71097019 71097019 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71097019 71097019 T A SNP ODAM NM_017855 human genbank 54_36p 1 validated missense c.73 p.S25T 0.8 NULL NULL - no_errors ODAM 54959 broad.mit.edu 36 4 71098918 71098918 + Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71098918 71098918 C G SNP ODAM NM_017855 human genbank 54_36p 1 validated missense c.409 p.Q137E 1 NULL NULL - no_errors CSN3 1448 broad.mit.edu 36 4 71149370 71149370 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71149370 71149370 C G SNP CSN3 NM_005212 human genbank 54_36p 1 validated missense c.154 p.P52A 0 HMMPfam_Casein_kappa HMMPfam_Casein_kappa - no_errors C4orf35 85438 broad.mit.edu 36 4 71235583 71235583 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 71235583 71235583 G C SNP C4orf35 NM_033122 human genbank 54_36p 1 validated missense c.238 p.D80H 0.11 NULL NULL - no_errors C4orf35 85438 broad.mit.edu 36 4 71235661 71235661 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71235661 71235661 A G SNP C4orf35 NM_033122 human genbank 54_36p 1 validated missense c.316 p.I106V 0 NULL NULL - no_errors SMR3A 26952 broad.mit.edu 36 4 71262466 71262466 + Silent SNP G G C rs62322478 by-1000genomes TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 71262466 71262466 G C SNP SMR3A NM_012390 human genbank 54_36p 1 validated silent c.45 p.A15 0.05 NULL NULL - no_errors MUC7 4589 broad.mit.edu 36 4 71381235 71381235 + Missense_Mutation SNP C C G novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71381235 71381235 C G SNP MUC7 NM_152291 human genbank 54_36p 1 reviewed missense c.185 p.S62C 0 NULL NULL - no_errors MUC7 100129410 broad.mit.edu 36 4 71381940 71381940 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 71381940 71381940 C A SNP LOC100129410 XM_001714842 human genbank 54_36p -1 model nonsense c.226 p.E76* 0 NULL NULL - no_errors AMBN 258 broad.mit.edu 36 4 71497332 71497332 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 71497332 71497332 G A SNP AMBN NM_016519 human genbank 54_36p 1 reviewed missense c.112 p.G38S 0.94 "HMMPfam_Amelin,HMMSmart_SM00817" "HMMPfam_Amelin,HMMSmart_SM00817" - no_errors AMBN 258 broad.mit.edu 36 4 71506678 71506678 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71506678 71506678 C T SNP AMBN NM_016519 human genbank 54_36p 1 reviewed missense c.986 p.P329L 0 "HMMPfam_Amelin,HMMSmart_SM00817" "HMMPfam_Amelin,HMMSmart_SM00817" - no_errors ENAM 10117 broad.mit.edu 36 4 71727058 71727058 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 71727058 71727058 A G SNP ENAM NM_031889 human genbank 54_36p 1 validated missense c.1051 p.R351G 0.67 NULL NULL - no_errors UTP3 57050 broad.mit.edu 36 4 71773283 71773295 + Frame_Shift_Del DEL GGAGCAGCTAAGT - GGAGCAGCTAAGT novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W GGAGCAGCTAAGT GGAGCAGCTAAGT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 71773283 71773295 GGAGCAGCTAAGT - DEL UTP3 NM_020368 human genbank 54_36p 1 validated frame_shift_del c.25_37 p.A10fs 0.970:0.966:0.962:0.951:0.907:0.876:0.848:0.816:0.568:0.557:0.551:0.548:0.542 NULL "HMMPfam_Sas10_Utp3,HMMPfam_Sas10_Utp3_C" "(deletion:cds_exon[71773259,71774698])" no_errors NPFFR2 10886 broad.mit.edu 36 4 73213311 73213311 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 73213311 73213311 A G SNP NPFFR2 NM_004885 human genbank 54_36p 1 reviewed missense c.445 p.I149V 0.35 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ANKRD17 26057 broad.mit.edu 36 4 74238557 74238557 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 74238557 74238557 C T SNP ANKRD17 NM_032217 human genbank 54_36p -1 reviewed missense c.1138 p.V380M 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_MutS_V,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" - no_errors AFM 173 broad.mit.edu 36 4 74570533 74570533 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 74570533 74570533 A G SNP AFM NM_001133 human genbank 54_36p 1 reviewed missense c.361 p.R121G 0.16 "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like" "HMMSmart_SM00103,HMMPfam_Serum_albumin,superfamily_Serum albumin-like,PatternScan_ALBUMIN" - no_errors USO1 8615 broad.mit.edu 36 4 76911071 76911071 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 76911071 76911071 G T SNP USO1 NM_003715 human genbank 54_36p 1 reviewed missense c.469 p.V157L 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Uso1_p115_head,HMMPfam_Uso1_p115_C" - no_errors PPEF2 5470 broad.mit.edu 36 4 77016653 77016653 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 77016653 77016653 G T SNP PPEF2 NM_006239 human genbank 54_36p -1 reviewed nonsense c.1131 p.C377* 0.85 "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos" "HMMPfam_IQ,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE,HMMSmart_SM00054,superfamily_EF-hand,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors SDAD1 55153 broad.mit.edu 36 4 77111541 77111541 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 77111541 77111541 A G SNP SDAD1 NM_018115 human genbank 54_36p -1 validated missense c.806 p.V269A 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_NUC130_3NT,HMMPfam_SDA1" - no_errors CXCL9 4283 broad.mit.edu 36 4 77143841 77143841 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 77143841 77143841 T A SNP CXCL9 NM_002416 human genbank 54_36p -1 reviewed missense c.312 p.K104N 0.02 NULL "HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CXC" - no_errors CCDC158 339965 broad.mit.edu 36 4 77495492 77495507 + Splice_Site DEL GCAACCCACCTTATTT - GCAACCCACCTTATTT novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D GCAACCCACCTTATTT GCAACCCACCTTATTT - - GCAACCCACCTTATTT GCAACCCACCTTATTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 77495492 77495507 GCAACCCACCTTATTT - DEL FLJ25770 NM_001042784 human genbank 54_36p -1 validated splice_site_del c.2286+8_2286+1 e14-1 0.058:0.057:0.074:0.520:0.607:0.660:0.699:0.971:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - "(deletion:intron[77493459,77495500], cds_exon[77495501,77495613])" no_errors CCDC158 339965 broad.mit.edu 36 4 77497599 77497599 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 77497599 77497599 C G SNP FLJ25770 NM_001042784 human genbank 54_36p -1 validated missense c.2125 p.E709Q 0.96 NULL NULL - no_errors CCNI 10983 broad.mit.edu 36 4 78195418 78195418 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 78195418 78195418 G C SNP CCNI NM_006835 human genbank 54_36p -1 reviewed missense c.599 p.S200C 1 NULL "superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385" - no_errors FRAS1 80144 broad.mit.edu 36 4 79606527 79606527 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 79606527 79606527 G A SNP FRAS1 ENST00000380674 human ensembl 54_36p 1 known missense c.7174 p.G2392S 1 NULL "HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181,HMMSmart_SM00237,HMMPfam_Calx-beta" - no_errors FRAS1 80144 broad.mit.edu 36 4 79637082 79637083 + Nonsense_Mutation DNP GG GG TT novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 79637082 79637083 GG TT DNP FRAS1 NM_025074 human genbank 54_36p 1 reviewed nonsense c.9054_9055 p.EL3019* 1.000:1.000 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00181,HMMSmart_SM00261,HMMSmart_SM00215,superfamily_Growth factor receptor domain" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NAA11 84779 broad.mit.edu 36 4 80465466 80465466 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 80465466 80465466 G A SNP ARD1B NM_032693 human genbank 54_36p -1 validated missense c.590 p.P197L 0 NULL "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" - no_errors GK2 2712 broad.mit.edu 36 4 80547531 80547531 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 80547531 80547531 C A SNP GK2 NM_033214 human genbank 54_36p -1 validated missense c.848 p.C283F 1 "superfamily_SSF53067,HMMPfam_FGGY_C" "superfamily_SSF53067,HMMPfam_FGGY_N,PatternScan_FGGY_KINASES_1,HMMPfam_FGGY_C,PatternScan_FGGY_KINASES_2" - no_errors BMP3 651 broad.mit.edu 36 4 82186163 82186163 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 82186163 82186163 C T SNP BMP3 NM_001201 human genbank 54_36p 1 reviewed silent c.564 p.A188 0.62 NULL "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors BMP3 651 broad.mit.edu 36 4 82186177 82186177 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 82186177 82186177 A G SNP BMP3 NM_001201 human genbank 54_36p 1 reviewed missense c.578 p.D193G 1 NULL "HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501" - no_errors BMP3 651 broad.mit.edu 36 4 82186277 82186277 + Silent SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 82186277 82186277 C T SNP BMP3 NM_001201 human genbank 54_36p 1 reviewed silent c.678 p.R226 0.02 NULL "HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501" - no_errors HNRPDL 9987 broad.mit.edu 36 4 83568293 83568293 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 83568293 83568293 A C SNP HNRPDL NM_031372 human genbank 54_36p -1 reviewed missense c.676 p.L226V 1 NULL "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" - no_errors SEC31A 22872 broad.mit.edu 36 4 83989074 83989074 + Silent SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 83989074 83989074 C T SNP SEC31A NM_001077207 human genbank 54_36p -1 reviewed silent c.2409 p.P803 0.33 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors THAP9 79725 broad.mit.edu 36 4 84057373 84057373 + Silent SNP T T C novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 84057373 84057373 T C SNP THAP9 NM_024672 human genbank 54_36p 1 validated silent c.984 p.G328 1 NULL "HMMPfam_THAP,HMMSmart_DM3" - no_errors THAP9 79725 broad.mit.edu 36 4 84058716 84058716 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 84058716 84058716 A T SNP THAP9 NM_024672 human genbank 54_36p 1 validated missense c.2327 p.E776V 1 NULL "HMMPfam_THAP,HMMSmart_DM3" - no_errors PLAC8 51316 broad.mit.edu 36 4 84245198 84245198 + Splice_Site SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 84245198 84245198 C A SNP PLAC8 NM_016619 human genbank 54_36p -1 validated splice_site c.119-1 e2-1 1 - - - no_errors NKX6-1 4825 broad.mit.edu 36 4 85633579 85633579 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 85633579 85633579 C A SNP NKX6-1 NM_006168 human genbank 54_36p -1 validated missense c.991 p.D331Y 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors CDS1 1040 broad.mit.edu 36 4 85774097 85774097 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 85774097 85774097 C G SNP CDS1 NM_001263 human genbank 54_36p 1 reviewed missense c.703 p.L235V 1 HMMPfam_CTP_transf_1 "HMMPfam_CTP_transf_1,PatternScan_CDS" - no_errors WDFY3 23001 broad.mit.edu 36 4 85842635 85842635 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 85842635 85842635 C A SNP WDFY3 NM_014991 human genbank 54_36p -1 reviewed missense c.8491 p.A2831S 1 "superfamily_BEACH domain,HMMPfam_Beach" ############################################################################################################################################################################################################################################################### - no_errors WDFY3 23001 broad.mit.edu 36 4 85961620 85961620 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 85961620 85961620 T G SNP WDFY3 NM_014991 human genbank 54_36p -1 reviewed missense c.1232 p.Y411S 1 superfamily_ARM repeat ############################################################################################################################################################################################################################################################### - no_errors PTPN13 5783 broad.mit.edu 36 4 87950112 87950112 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 87950112 87950112 C A SNP PTPN13 NM_080685 human genbank 54_36p 1 reviewed missense c.7265 p.T2422N 1 "superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors HSD17B11 51170 broad.mit.edu 36 4 88480763 88480763 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 88480763 88480763 G A SNP HSD17B11 NM_016245 human genbank 54_36p -1 validated missense c.715 p.P239S 1 superfamily_NAD(P)-binding Rossmann-fold domains "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" - no_errors HSD17B11 51170 broad.mit.edu 36 4 88497455 88497455 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 88497455 88497455 C A SNP HSD17B11 NM_016245 human genbank 54_36p -1 validated missense c.695 p.S232I 1 superfamily_NAD(P)-binding Rossmann-fold domains "HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors DSPP 1834 broad.mit.edu 36 4 88755481 88755482 + In_Frame_Ins INS - AGTAGTGAC - novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 88755481 88755482 - AGTAGTGAC INS DSPP NM_014208 human genbank 54_36p 1 reviewed in_frame_ins c.2643_2644 p.885in_frame_insSDS 0.979:0.981 NULL NULL - no_errors DMP1 1758 broad.mit.edu 36 4 88802290 88802290 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 88802290 88802290 C T SNP DMP1 NM_004407 human genbank 54_36p 1 reviewed silent c.336 p.D112 1 HMMPfam_DMP1 HMMPfam_DMP1 - no_errors MEPE 56955 broad.mit.edu 36 4 88986112 88986112 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 88986112 88986112 C A SNP MEPE NM_020203 human genbank 54_36p 1 validated missense c.1068 p.N356K 0.95 NULL HMMPfam_Osteoregulin - no_errors HERC6 55008 broad.mit.edu 36 4 89533744 89533744 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 89533744 89533744 C T SNP HERC6 ENST00000264346 human ensembl 54_36p 1 known missense c.743 p.A248V 1 superfamily_RCC1/BLIP-II "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HERC5 51191 broad.mit.edu 36 4 89634439 89634439 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 89634439 89634439 T G SNP HERC5 NM_016323 human genbank 54_36p 1 reviewed missense c.2378 p.F793C 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HERC5 51191 broad.mit.edu 36 4 89644476 89644476 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 89644476 89644476 C T SNP HERC5 NM_016323 human genbank 54_36p 1 reviewed missense c.2653 p.R885W 0.52 "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain" "HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,superfamily_RCC1/BLIP-II" - no_errors GPRIN3 285513 broad.mit.edu 36 4 90389105 90389105 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 90389105 90389105 T C SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated missense c.1180 p.I394V 0.97 NULL NULL - no_errors GPRIN3 285513 broad.mit.edu 36 4 90389357 90389357 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 90389357 90389357 T G SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated missense c.928 p.K310Q 0 NULL NULL - no_errors SNCA 6622 broad.mit.edu 36 4 90975785 90975785 + Silent SNP A A T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 90975785 90975785 A T SNP SNCA NM_000345 human genbank 54_36p -1 reviewed silent c.57 p.A19 0.98 HMMPfam_Synuclein HMMPfam_Synuclein - no_errors MMRN1 22915 broad.mit.edu 36 4 91035335 91035335 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 91035335 91035335 G T SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed nonsense c.190 p.E64* 0.02 NULL "HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" - no_errors MMRN1 22915 broad.mit.edu 36 4 91035647 91035647 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 91035647 91035647 G T SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed missense c.502 p.V168F 0.01 NULL "PatternScan_ASX_HYDROXYL,HMMPfam_C1q,HMMSmart_SM00110,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_TNF-like,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors MMRN1 22915 broad.mit.edu 36 4 91093337 91093337 + Silent SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 91093337 91093337 A G SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed silent c.3432 p.V1144 0.98 "HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like" "PatternScan_ASX_HYDROXYL,HMMPfam_C1q,HMMSmart_SM00110,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_TNF-like,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors GRID2 2895 broad.mit.edu 36 4 93730328 93730328 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 93730328 93730328 A C SNP GRID2 NM_001510 human genbank 54_36p 1 validated missense c.112 p.K38Q 1 superfamily_SSF53822 "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRID2 2895 broad.mit.edu 36 4 94357013 94357013 + Silent SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 94357013 94357013 G T SNP GRID2 NM_001510 human genbank 54_36p 1 validated silent c.891 p.R297 1 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850" - no_errors PDLIM5 10611 broad.mit.edu 36 4 95797707 95797707 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 95797707 95797707 C A SNP PDLIM5 NM_006457 human genbank 54_36p 1 reviewed missense c.1571 p.P524H 1 "HMMSmart_SM00132,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1" - no_errors UNC5C 8633 broad.mit.edu 36 4 96325294 96325295 + Frame_Shift_Ins INS - T - novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 - - T T - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 96325294 96325295 - T INS UNC5C NM_003728 human genbank 54_36p -1 reviewed frame_shift_ins c.2213_2212 p.T738fs 1.000:1.000 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors UNC5C 8633 broad.mit.edu 36 4 96418498 96418498 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 96418498 96418498 C T SNP UNC5C NM_003728 human genbank 54_36p -1 reviewed missense c.529 p.E177K 1 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors RAP1GDS1 5910 broad.mit.edu 36 4 99544754 99544754 + Silent SNP T T C novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 99544754 99544754 T C SNP RAP1GDS1 NM_001100426 human genbank 54_36p 1 validated silent c.744 p.V248 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors ADH5 128 broad.mit.edu 36 4 100212611 100212611 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 100212611 100212611 G A SNP ADH5 NM_000671 human genbank 54_36p -1 reviewed nonsense c.1105 p.R369* 1 superfamily_GroES-like "superfamily_GroES-like,HMMPfam_ADH_N,PatternScan_ADH_ZINC,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N" - no_errors ADH1B 125 broad.mit.edu 36 4 100454248 100454248 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 100454248 100454248 G A SNP ADH1B NM_000668 human genbank 54_36p -1 reviewed missense c.581 p.S194F 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N" "superfamily_GroES-like,HMMPfam_ADH_N,PatternScan_ADH_ZINC,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N" - no_errors RG9MTD2 93587 broad.mit.edu 36 4 100689519 100689519 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 4 100689519 100689519 C G SNP RG9MTD2 NM_152292 human genbank 54_36p -1 validated missense c.769 p.E257Q 1 HMMPfam_tRNA_m1G_MT HMMPfam_tRNA_m1G_MT - no_errors MTTP 4547 broad.mit.edu 36 4 100746944 100746944 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 100746944 100746944 A G SNP MTTP NM_000253 human genbank 54_36p 1 reviewed missense c.1361 p.K454R 1 "HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical" "superfamily_Lipid_transp_b-sht_shell,HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical" - no_errors DDIT4L 115265 broad.mit.edu 36 4 101327861 101327861 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 101327861 101327861 G A SNP DDIT4L NM_145244 human genbank 54_36p -1 provisional missense c.578 p.S193F 1 NULL HMMPfam_RTP801_C - no_errors PPP3CA 5530 broad.mit.edu 36 4 102223386 102223386 + Silent SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 102223386 102223386 G C SNP PPP3CA NM_000944 human genbank 54_36p -1 validated silent c.840 p.A280 1 "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos" "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE" - no_errors BANK1 55024 broad.mit.edu 36 4 102969992 102969992 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 102969992 102969992 T G SNP BANK1 NM_017935 human genbank 54_36p 1 validated missense c.75 p.N25K 0.77 NULL superfamily_Ankyrin repeat - no_errors NHEDC1 150159 broad.mit.edu 36 4 104089882 104089882 + Silent SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 104089882 104089882 A G SNP NHEDC1 NM_139173 human genbank 54_36p -1 reviewed silent c.363 p.P121 1 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors TACR3 6870 broad.mit.edu 36 4 104730348 104730348 + Silent SNP A A T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 104730348 104730348 A T SNP TACR3 NM_001059 human genbank 54_36p -1 reviewed silent c.1338 p.S446 0.96 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TACR3 6870 broad.mit.edu 36 4 104730582 104730582 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 104730582 104730582 C G SNP TACR3 NM_001059 human genbank 54_36p -1 reviewed missense c.1104 p.K368N 1 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors CXXC4 80319 broad.mit.edu 36 4 105631754 105631754 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 105631754 105631754 A G SNP CXXC4 NM_025212 human genbank 54_36p -1 provisional missense c.148 p.C50R 1 NULL HMMPfam_zf-CXXC - no_errors PPA2 27068 broad.mit.edu 36 4 106594233 106594233 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 106594233 106594233 T C SNP PPA2 NM_176869 human genbank 54_36p -1 reviewed missense c.238 p.M80V 0.95 superfamily_Inorganic pyrophosphatase "superfamily_Inorganic pyrophosphatase,HMMPfam_Pyrophosphatase,PatternScan_PPASE" - no_errors ARHGEF38 54848 broad.mit.edu 36 4 106729943 106729944 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 106729943 106729944 GA TT DNP FLJ20184 NM_017700 human genbank 54_36p 1 predicted missense c.286_287 p.E96L 0.777:0.773 superfamily_DH-domain "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF" - no_errors GSTCD 79807 broad.mit.edu 36 4 106975103 106975127 + Frame_Shift_Del DEL GTGATTGAGCACTGTATCAAAACAC - GTGATTGAGCACTGTATCAAAACAC novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W GTGATTGAGCACTGTATCAAAACAC GTGATTGAGCACTGTATCAAAACAC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 106975103 106975127 GTGATTGAGCACTGTATCAAAACAC - DEL GSTCD NM_001031720 human genbank 54_36p 1 validated frame_shift_del c.1567_1591 p.V523fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.996:0.879:0.847:0.556:0.099:0.752 NULL "superfamily_Glutathione S-transferase (GST) C-terminal domain,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "(deletion:cds_exon[106975067,106975200])" no_errors TBCK 93627 broad.mit.edu 36 4 107353390 107353390 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 107353390 107353390 C G SNP TBCKL NM_033115 human genbank 54_36p -1 provisional missense c.1637 p.S546T 1 "HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC" "superfamily_Kinase_like,HMMPfam_Pkinase,superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC,superfamily_Rhodanese-like,HMMSmart_RHOD,HMMPfam_Rhodanese" - no_errors DKK2 27123 broad.mit.edu 36 4 108066444 108066444 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 108066444 108066444 G C SNP DKK2 NM_014421 human genbank 54_36p -1 reviewed missense c.334 p.R112G 0.7 HMMPfam_Dickkopf_N HMMPfam_Dickkopf_N - no_errors HADH 3033 broad.mit.edu 36 4 109174914 109174914 + Silent SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 109174914 109174914 G A SNP HADH NM_005327 human genbank 54_36p 1 reviewed silent c.897 p.E299 1 "superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,HMMPfam_3HCDH" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,HMMPfam_3HCDH" - no_errors AGXT2L1 64850 broad.mit.edu 36 4 109888619 109888619 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 109888619 109888619 C A SNP AGXT2L1 NM_031279 human genbank 54_36p -1 provisional missense c.1073 p.G358V 1 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_3" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3" - no_errors COL25A1 84570 broad.mit.edu 36 4 110000291 110000291 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 110000291 110000291 G C SNP COL25A1 NM_198721 human genbank 54_36p -1 validated missense c.1290 p.D430E 1 NULL HMMPfam_Collagen - no_errors COL25A1 84570 broad.mit.edu 36 4 110003986 110003986 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 110003986 110003986 G A SNP COL25A1 NM_198721 human genbank 54_36p -1 validated missense c.1090 p.R364W 1 HMMPfam_Collagen HMMPfam_Collagen - no_errors SEC24B 10427 broad.mit.edu 36 4 110646977 110646977 + Silent SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 110646977 110646977 G A SNP SEC24B NM_006323 human genbank 54_36p 1 reviewed silent c.1533 p.L511 0.86 superfamily_beta-sandwich domain of Sec23/24 ############################################################################################################################################################################################################################################################### - no_errors PLA2G12A 81579 broad.mit.edu 36 4 110859322 110859322 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 110859322 110859322 G A SNP PLA2G12A NM_030821 human genbank 54_36p -1 validated missense c.251 p.P84L 1 "HMMPfam_PLA2G12,superfamily_Phospholipase A2 PLA2" "HMMPfam_PLA2G12,superfamily_Phospholipase A2 PLA2,PatternScan_PA2_HIS" - no_errors ALPK1 80216 broad.mit.edu 36 4 113572444 113572444 + Silent SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 113572444 113572444 G A SNP ALPK1 NM_001102406 human genbank 54_36p 1 validated silent c.2292 p.E764 0 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase" - no_errors ALPK1 80216 broad.mit.edu 36 4 113572868 113572868 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 4 113572868 113572868 A T SNP ALPK1 NM_001102406 human genbank 54_36p 1 validated missense c.2716 p.T906S 0.1 NULL "HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like)" - no_errors C4orf21 55345 broad.mit.edu 36 4 113758564 113758564 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 113758564 113758564 G C SNP C4orf21 NM_018392 human genbank 54_36p -1 predicted missense c.2083 p.Q695E 0 NULL HMMPfam_DUF2439 - no_errors LARP7 51574 broad.mit.edu 36 4 113788063 113788063 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 113788063 113788063 T A SNP LARP7 NM_015454 human genbank 54_36p 1 validated missense c.906 p.D302E 0 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_RRM_3" - no_errors LARP7 51574 broad.mit.edu 36 4 113790234 113790234 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 113790234 113790234 T G SNP LARP7 NM_015454 human genbank 54_36p 1 validated missense c.1237 p.S413A 0.1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_La,HMMSmart_SM00715,HMMPfam_RRM_3,superfamily_Winged helix DNA-binding domain,superfamily_RNA-binding domain RBD" - no_errors LARP7 51574 broad.mit.edu 36 4 113790255 113790255 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 113790255 113790255 G A SNP LARP7 NM_015454 human genbank 54_36p 1 validated missense c.1258 p.G420R 0 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_La,HMMSmart_SM00715,HMMPfam_RRM_3,superfamily_Winged helix DNA-binding domain,superfamily_RNA-binding domain RBD" - no_errors LARP7 51574 broad.mit.edu 36 4 113791076 113791076 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 113791076 113791076 G A SNP LARP7 NM_015454 human genbank 54_36p 1 validated silent c.1305 p.R435 0.01 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_La,HMMSmart_SM00715,HMMPfam_RRM_3,superfamily_Winged helix DNA-binding domain,superfamily_RNA-binding domain RBD" - no_errors ANK2 287 broad.mit.edu 36 4 114381120 114381120 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 114381120 114381120 C T SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.724 p.H242Y 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors ANK2 287 broad.mit.edu 36 4 114415178 114415178 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 114415178 114415178 T G SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.1607 p.I536S 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors ANK2 287 broad.mit.edu 36 4 114428235 114428235 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 114428235 114428235 C T SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.2105 p.A702V 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors ANK2 287 broad.mit.edu 36 4 114494868 114494868 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 114494868 114494868 C T SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.5645 p.S1882L 0.99 NULL "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors ANK2 287 broad.mit.edu 36 4 114513912 114513912 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 114513912 114513912 G A SNP ANK2 NM_001148 human genbank 54_36p 1 reviewed missense c.11717 p.R3906Q 0.99 NULL "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors ARSJ 79642 broad.mit.edu 36 4 115043506 115043506 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 115043506 115043506 C T SNP ARSJ NM_024590 human genbank 54_36p -1 validated silent c.1173 p.Q391 0.99 "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like" "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2" - no_errors TRAM1L1 133022 broad.mit.edu 36 4 118225351 118225351 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 118225351 118225351 T G SNP TRAM1L1 NM_152402 human genbank 54_36p -1 validated missense c.647 p.N216T 1 "HMMSmart_TLC,HMMPfam_TRAM_LAG1_CLN8" "HMMPfam_TRAM1,HMMSmart_TLC,HMMPfam_TRAM_LAG1_CLN8" - no_errors FABP2 2169 broad.mit.edu 36 4 120460175 120460175 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 120460175 120460175 A T SNP FABP2 NM_000134 human genbank 54_36p -1 reviewed missense c.312 p.N104K 0 "superfamily_Lipocalins,HMMPfam_Lipocalin" "superfamily_Lipocalins,HMMPfam_Lipocalin,PatternScan_FABP" - no_errors TNIP3 79931 broad.mit.edu 36 4 122287746 122287746 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 122287746 122287746 G A SNP TNIP3 NM_024873 human genbank 54_36p -1 validated nonsense c.643 p.R215* 1 NULL NULL - no_errors ANXA5 308 broad.mit.edu 36 4 122812242 122812242 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 122812242 122812242 C G SNP ANXA5 NM_001154 human genbank 54_36p -1 reviewed missense c.631 p.D211H 1 "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors CCNA2 890 broad.mit.edu 36 4 122961670 122961670 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 122961670 122961670 T G SNP CCNA2 NM_001237 human genbank 54_36p -1 validated missense c.484 p.I162L 0.03 NULL "superfamily_Cyclin-like,HMMPfam_Cyclin_N,PatternScan_CYCLINS,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors BBS7 55212 broad.mit.edu 36 4 122989531 122989531 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 122989531 122989531 C G SNP BBS7 NM_176824 human genbank 54_36p -1 reviewed missense c.852 p.M284I 0.8 NULL NULL - no_errors KIAA1109 84162 broad.mit.edu 36 4 123351629 123351629 + Missense_Mutation SNP G G C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 123351629 123351629 G C SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated missense c.2176 p.E726Q 1 NULL "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors KIAA1109 84162 broad.mit.edu 36 4 123387334 123387334 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 123387334 123387334 C T SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated missense c.5231 p.T1744M 0.25 NULL "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors KIAA1109 84162 broad.mit.edu 36 4 123487367 123487385 + Splice_Site DEL TAAGCTTGTTATGTAATTT - TAAGCTTGTTATGTAATTT novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 TAAGCTTGTTATGTAATTT TAAGCTTGTTATGTAATTT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 123487367 123487385 TAAGCTTGTTATGTAATTT - DEL KIAA1109 NM_015312 human genbank 54_36p 1 validated splice_site_del c.12871+2_12871+1 e73+2 1.000:0.998:0.993:0.977:0.024:0.018:0.000:0.000:0.001:0.001:0.000:0.015:0.537:0.587:0.577:0.581:0.002:0.002:0.001 - - "(deletion:intron[123487366,123488126])" no_errors KIAA1109 84162 broad.mit.edu 36 4 123490564 123490564 + Silent SNP A A G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 123490564 123490564 A G SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated silent c.13734 p.E4578 1 HMMPfam_FSA_C "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors KIAA1109 84162 broad.mit.edu 36 4 123500233 123500233 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 123500233 123500233 T C SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated missense c.14707 p.S4903P 1 HMMPfam_FSA_C "PatternScan_ASP_PROTEASE,HMMPfam_FSA_C" - no_errors BBS12 166379 broad.mit.edu 36 4 123884049 123884049 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 123884049 123884049 A G SNP BBS12 NM_152618 human genbank 54_36p 1 validated missense c.1552 p.R518G 0.52 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like" - no_errors FAT4 79633 broad.mit.edu 36 4 126460427 126460427 + Silent SNP T T C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 126460427 126460427 T C SNP FAT4 NM_024582 human genbank 54_36p 1 validated silent c.3411 p.Y1137 0.98 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" ############################################################################################################################################################################################################################################################### - no_errors FAT4 79633 broad.mit.edu 36 4 126461042 126461042 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 126461042 126461042 C T SNP FAT4 NM_024582 human genbank 54_36p 1 validated silent c.4026 p.S1342 0.74 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors FAT4 79633 broad.mit.edu 36 4 126461302 126461302 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 126461302 126461302 T C SNP FAT4 NM_024582 human genbank 54_36p 1 validated missense c.4286 p.I1429T 0.96 "HMMPfam_Cadherin,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors FAT4 79633 broad.mit.edu 36 4 126461375 126461375 + Silent SNP T T A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 126461375 126461375 T A SNP FAT4 NM_024582 human genbank 54_36p 1 validated silent c.4359 p.G1453 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors FAT4 79633 broad.mit.edu 36 4 126586986 126586991 + In_Frame_Del DEL AAAGAT - - novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 AAAGAT AAAGAT - - AAAGAT AAAGAT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 126586986 126586991 AAAGAT - DEL FAT4 NM_024582 human genbank 54_36p 1 validated in_frame_del c.7282_7287 p.KD2428in_frame_del 0.769:0.944:0.956:0.995:0.991:0.983 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[126586904,126587148])" no_errors FAT4 79633 broad.mit.edu 36 4 126591860 126591860 + Silent SNP C C A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 126591860 126591860 C A SNP FAT4 NM_024582 human genbank 54_36p 1 validated silent c.10239 p.I3413 1 "HMMPfam_Cadherin,superfamily_Cadherin" ############################################################################################################################################################################################################################################################### - no_errors HSPA4L 22824 broad.mit.edu 36 4 128971336 128971336 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 128971336 128971336 G T SNP HSPA4L NM_014278 human genbank 54_36p 1 provisional missense c.2260 p.A754S 1 superfamily_SSF100934 "superfamily_SSF53067,HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934" - no_errors MFSD8 256471 broad.mit.edu 36 4 129082728 129082728 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 129082728 129082728 C T SNP MFSD8 NM_152778 human genbank 54_36p -1 reviewed missense c.475 p.A159T 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors C4orf29 80167 broad.mit.edu 36 4 129160698 129160698 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 129160698 129160698 C T SNP C4orf29 NM_001039717 human genbank 54_36p 1 predicted missense c.623 p.A208V 1 "HMMPfam_DUF2048,superfamily_alpha/beta-Hydrolases" "HMMPfam_DUF2048,superfamily_alpha/beta-Hydrolases" - no_errors SCLT1 132320 broad.mit.edu 36 4 130089114 130089114 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 130089114 130089114 T A SNP SCLT1 NM_144643 human genbank 54_36p -1 validated missense c.1280 p.E427V 1 NULL NULL - no_errors SCLT1 132320 broad.mit.edu 36 4 130140282 130140282 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 130140282 130140282 G C SNP SCLT1 NM_144643 human genbank 54_36p -1 validated missense c.544 p.Q182E 1 NULL NULL - no_errors PCDH10 57575 broad.mit.edu 36 4 134292958 134292958 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 134292958 134292958 T G SNP PCDH10 NM_032961 human genbank 54_36p 1 reviewed missense c.2213 p.V738G 1 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,PatternScan_EGF_1" - no_errors PCDH18 54510 broad.mit.edu 36 4 138671431 138671431 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 138671431 138671431 G T SNP PCDH18 NM_019035 human genbank 54_36p -1 reviewed missense c.1262 p.A421D 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors CCRN4L 25819 broad.mit.edu 36 4 140183830 140183830 + Silent SNP A A C novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 140183830 140183830 A C SNP CCRN4L NM_012118 human genbank 54_36p 1 reviewed silent c.343 p.R115 1 NULL "HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos" - no_errors ELF2 1998 broad.mit.edu 36 4 140199644 140199644 + Silent SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 140199644 140199644 T C SNP ELF2 NM_201999 human genbank 54_36p -1 validated silent c.1689 p.S563 0.98 NULL "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors NAA15 80155 broad.mit.edu 36 4 140500442 140500442 + Nonsense_Mutation SNP C C G novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 140500442 140500442 C G SNP NARG1 NM_057175 human genbank 54_36p 1 validated nonsense c.1353 p.Y451* 1 superfamily_TPR-like "superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors MAML3 55534 broad.mit.edu 36 4 141030778 141030778 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 141030778 141030778 G C SNP MAML3 NM_018717 human genbank 54_36p -1 validated missense c.1262 p.P421R 1 NULL HMMPfam_MamL-1 - no_errors ELMOD2 255520 broad.mit.edu 36 4 141666057 141666057 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 141666057 141666057 T A SNP ELMOD2 NM_153702 human genbank 54_36p 1 provisional missense c.25 p.F9I 1 NULL HMMPfam_ELMO_CED12 - no_errors TBC1D9 23158 broad.mit.edu 36 4 141774620 141774620 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 141774620 141774620 C T SNP TBC1D9 NM_015130 human genbank 54_36p -1 validated missense c.2678 p.R893H 1 superfamily_EF-hand "HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand" - no_errors RNF150 57484 broad.mit.edu 36 4 142108464 142108464 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 142108464 142108464 G A SNP RNF150 NM_020724 human genbank 54_36p -1 validated silent c.498 p.I166 0.63 "superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA" "superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors OTUD4 54726 broad.mit.edu 36 4 146278178 146278178 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 146278178 146278178 C A SNP OTUD4 NM_001102653 human genbank 54_36p -1 reviewed missense c.3004 p.V1002L 0 NULL "superfamily_SSF54001,HMMPfam_OTU" - no_errors MMAA 166785 broad.mit.edu 36 4 146794600 146794600 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 146794600 146794600 T C SNP MMAA NM_172250 human genbank 54_36p 1 reviewed missense c.824 p.I275T 1 "HMMPfam_ArgK,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_ArgK,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DCLK2 166614 broad.mit.edu 36 4 151380349 151380349 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 151380349 151380349 T G SNP DCLK2 NM_001040260 human genbank 54_36p 1 validated missense c.1572 p.C524W 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors LRBA 987 broad.mit.edu 36 4 151577369 151577369 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 151577369 151577369 T G SNP LRBA NM_006726 human genbank 54_36p -1 validated missense c.6911 p.H2304P 1 "superfamily_BEACH domain,HMMPfam_Beach" "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors MAB21L2 10586 broad.mit.edu 36 4 151724424 151724424 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 151724424 151724424 C A SNP MAB21L2 NM_006439 human genbank 54_36p 1 reviewed missense c.793 p.P265T 1 HMMPfam_Mab-21 HMMPfam_Mab-21 - no_errors SH3D19 152503 broad.mit.edu 36 4 152268306 152268306 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 152268306 152268306 T G SNP SH3D19 NM_001009555 human genbank 54_36p -1 validated missense c.2161 p.S721R 0.01 superfamily_SH3-domain "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMPfam_SH3_1" - no_errors FBXW7 55294 broad.mit.edu 36 4 153463655 153463655 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 153463655 153463655 A T SNP FBXW7 NM_033632 human genbank 54_36p -1 reviewed nonsense c.1952 p.L651* 1 PatternScan_WD_REPEATS_1 "HMMSmart_SM00320,HMMPfam_F-box,HMMSmart_SM00256,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_F-box domain" - no_errors FHDC1 85462 broad.mit.edu 36 4 154094886 154094886 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 154094886 154094886 C G SNP FHDC1 NM_033393 human genbank 54_36p 1 validated missense c.628 p.R210G 0.99 "superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" "superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors RNF175 285533 broad.mit.edu 36 4 154856233 154856233 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 154856233 154856233 C T SNP RNF175 NM_173662 human genbank 54_36p -1 validated missense c.662 p.S221N 0.79 superfamily_RING/U-box "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors SFRP2 6423 broad.mit.edu 36 4 154922125 154922125 + Silent SNP C C G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 154922125 154922125 C G SNP SFRP2 NM_003013 human genbank 54_36p -1 reviewed silent c.816 p.S272 0.94 "superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" - no_errors SFRP2 6423 broad.mit.edu 36 4 154922237 154922237 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 4 154922237 154922237 G A SNP SFRP2 NM_003013 human genbank 54_36p -1 reviewed missense c.704 p.S235L 0.99 "superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643" "superfamily_Frizzled cysteine-rich domain,superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Fz,HMMSmart_SM00063" - no_errors DCHS2 54798 broad.mit.edu 36 4 155438480 155438480 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 155438480 155438480 C G SNP DCHS2 NM_017639 human genbank 54_36p -1 validated missense c.5071 p.G1691R 0.06 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors FGB 2244 broad.mit.edu 36 4 155708244 155708244 + Silent SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 155708244 155708244 A G SNP FGB NM_005141 human genbank 54_36p 1 reviewed silent c.540 p.Q180 0 HMMPfam_Fib_beta "HMMPfam_Fib_beta,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors FGA 2243 broad.mit.edu 36 4 155725231 155725231 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 155725231 155725231 A T SNP FGA NM_000508 human genbank 54_36p -1 reviewed missense c.2096 p.L699Q 1 "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C" "HMMPfam_Fib_alpha,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors FGA 2243 broad.mit.edu 36 4 155726337 155726337 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 155726337 155726337 G T SNP FGA NM_000508 human genbank 54_36p -1 reviewed missense c.1694 p.P565H 0 NULL "HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_Fib_alpha" - no_errors FGA 2243 broad.mit.edu 36 4 155726409 155726409 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 155726409 155726409 A T SNP FGA NM_000508 human genbank 54_36p -1 reviewed missense c.1622 p.V541D 0 NULL "HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_Fib_alpha" - no_errors MAP9 79884 broad.mit.edu 36 4 156500847 156500847 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 156500847 156500847 C A SNP MAP9 NM_001039580 human genbank 54_36p -1 validated missense c.973 p.D325Y 0 NULL NULL - no_errors GUCY1B3 2983 broad.mit.edu 36 4 156943004 156943004 + Silent SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 156943004 156943004 G A SNP GUCY1B3 NM_000857 human genbank 54_36p 1 validated silent c.1236 p.V412 1 "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc" "HMMPfam_HNOB,superfamily_H-NOX domain,HMMPfam_HNOBA,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors GUCY1B3 2983 broad.mit.edu 36 4 156943097 156943097 + Silent SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 156943097 156943097 C G SNP GUCY1B3 NM_000857 human genbank 54_36p 1 validated silent c.1329 p.A443 1 "HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain" "HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_HNOB,superfamily_H-NOX domain,HMMPfam_HNOBA,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ACCN5 51802 broad.mit.edu 36 4 157004085 157004085 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 157004085 157004085 C A SNP ACCN5 NM_017419 human genbank 54_36p -1 reviewed missense c.312 p.M104I 0.49 HMMPfam_ASC "PatternScan_ASC,HMMPfam_ASC" - no_errors GRIA2 2891 broad.mit.edu 36 4 158473930 158473930 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 158473930 158473930 A T SNP GRIA2 NM_000826 human genbank 54_36p 1 reviewed missense c.1130 p.E377V 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRIA2 2891 broad.mit.edu 36 4 158477126 158477132 + Frame_Shift_Del DEL CCTTTAG - CCTTTAG novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W CCTTTAG CCTTTAG - - CCTTTAG CCTTTAG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 158477126 158477132 CCTTTAG - DEL GRIA2 NM_000826 human genbank 54_36p 1 reviewed frame_shift_del c.1621_1627 p.L542fs 1.000:1.000:0.980:0.995:1.000:1.000:1.000 "superfamily_SSF53850,HMMSmart_PBPe" "superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" "(deletion:cds_exon[158476979,158477349])" no_errors ETFDH 2110 broad.mit.edu 36 4 159847245 159847254 + Frame_Shift_Del DEL CGGCTCAAGC - CGGCTCAAGC novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 CGGCTCAAGC CGGCTCAAGC - - CGGCTCAAGC CGGCTCAAGC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 159847245 159847254 CGGCTCAAGC - DEL ETFDH NM_004453 human genbank 54_36p 1 reviewed frame_shift_del c.1483_1492 p.R495fs 0.851:0.997:1.000:1.000:1.000:0.968:1.000:1.000:1.000:1.000 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_ETF_QO" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,HMMPfam_ETF_QO" "(deletion:cds_exon[159847231,159847452])" no_errors RAPGEF2 9693 broad.mit.edu 36 4 160484003 160484003 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 160484003 160484003 C T SNP RAPGEF2 NM_014247 human genbank 54_36p 1 validated missense c.2768 p.T923I 1 "superfamily_Ras_GEF,HMMSmart_RasGEF" "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,superfamily_Ras_GEF,HMMSmart_RasGEFN,HMMPfam_RasGEF_N,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMPfam_RA,HMMSmart_RA,HMMSmart_RasGEF,HMMPfam_RasGEF" - no_errors FSTL5 56884 broad.mit.edu 36 4 162621631 162621631 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 4 162621631 162621631 T A SNP FSTL5 NM_020116 human genbank 54_36p -1 validated missense c.1599 p.K533N 1 superfamily_Amine_DH_B_like "PatternScan_KAZAL,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_efhand,superfamily_SSF47473,PatternScan_EF_HAND_1,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_Amine_DH_B_like" - no_errors FSTL5 56884 broad.mit.edu 36 4 162728158 162728158 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 162728158 162728158 G T SNP FSTL5 NM_020116 human genbank 54_36p -1 validated missense c.914 p.S305Y 1 "HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726" "HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_KAZAL,HMMSmart_IGc2,superfamily_Amine_DH_B_like,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF100895,superfamily_SSF47473,superfamily_SSF48726" - no_errors NAF1 92345 broad.mit.edu 36 4 164286454 164286454 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 164286454 164286454 G C SNP NAF1 NM_138386 human genbank 54_36p -1 validated missense c.647 p.S216C 1 HMMPfam_NAF1 HMMPfam_NAF1 - no_errors TKTL2 84076 broad.mit.edu 36 4 164612997 164612997 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 164612997 164612997 C A SNP TKTL2 NM_032136 human genbank 54_36p -1 validated missense c.1340 p.C447F 0.99 "superfamily_SSF52518,HMMPfam_Transket_pyr" "PatternScan_TRANSKETOLASE_1,PatternScan_TRANSKETOLASE_2,superfamily_SSF52518,HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,superfamily_Transketo_C_like,HMMPfam_Transketolase_C" - no_errors TKTL2 84076 broad.mit.edu 36 4 164614169 164614169 + Silent SNP C C T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 164614169 164614169 C T SNP TKTL2 NM_032136 human genbank 54_36p -1 validated silent c.168 p.T56 1 "HMMPfam_Transketolase_N,superfamily_SSF52518" "HMMPfam_Transketolase_N,PatternScan_TRANSKETOLASE_1,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_Transketo_C_like,superfamily_SSF52518" - no_errors ANP32C 23520 broad.mit.edu 36 4 165337616 165337616 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 165337616 165337616 C T SNP ANP32C NM_012403 human genbank 54_36p -1 reviewed missense c.698 p.R233Q 0.82 NULL "superfamily_L domain-like,HMMPfam_LRR_1" - no_errors ANP32C 23520 broad.mit.edu 36 4 165337738 165337738 + Silent SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 165337738 165337738 C T SNP ANP32C NM_012403 human genbank 54_36p -1 reviewed silent c.576 p.E192 1 NULL "HMMPfam_LRR_1,superfamily_L domain-like" - no_errors CPE 1363 broad.mit.edu 36 4 166625129 166625129 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 166625129 166625129 C A SNP CPE NM_001873 human genbank 54_36p 1 reviewed missense c.896 p.P299Q 1 "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,HMMSmart_SM00631" "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Carboxypeptidase regulatory domain" - no_errors TLL1 7092 broad.mit.edu 36 4 167144075 167144075 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 167144075 167144075 G T SNP TLL1 NM_012464 human genbank 54_36p 1 reviewed missense c.715 p.V239F 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin" ############################################################################################################################################################################################################################################################### - no_errors DDX60 55601 broad.mit.edu 36 4 169443135 169443135 + Silent SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 169443135 169443135 A G SNP DDX60 NM_017631 human genbank 54_36p -1 validated silent c.1429 p.L477 0.33 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors DDX60L 91351 broad.mit.edu 36 4 169610856 169610882 + In_Frame_Del DEL TAAGAAAGAATCACTGTTCCTAATCCA - TAAGAAAGAATCACTGTTCCTAATCCA novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 TAAGAAAGAATCACTGTTCCTAATCCA TAAGAAAGAATCACTGTTCCTAATCCA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 169610856 169610882 TAAGAAAGAATCACTGTTCCTAATCCA - DEL DDX60L NM_001012967 human genbank 54_36p -1 validated in_frame_del c.990_964 p.WIRNSDSFL322in_frame_del 0.855:0.745:0.196:0.129:0.122:0.073:0.005:0.004:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.010:0.029:0.031:0.020 NULL "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" "(deletion:cds_exon[169610850,169611008])" no_errors PALLD 23022 broad.mit.edu 36 4 169669713 169669737 + Frame_Shift_Del DEL GGGTGGCCCCCAGAGCCAGCTGTGT - GGGTGGCCCCCAGAGCCAGCTGTGT novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 GGGTGGCCCCCAGAGCCAGCTGTGT GGGTGGCCCCCAGAGCCAGCTGTGT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 4 169669713 169669737 GGGTGGCCCCCAGAGCCAGCTGTGT - DEL PALLD NM_016081 human genbank 54_36p 1 validated frame_shift_del c.483_507 p.G162fs 0.000:0.002:0.037:0.145:0.514:0.723:0.724:0.732:0.742:0.800:0.926:0.985:0.994:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.996 NULL "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,PatternScan_DEHYDRATASE_SER_THR" "(deletion:cds_exon[169669231,169670138])" no_errors PALLD 23022 broad.mit.edu 36 4 170056248 170056248 + Silent SNP A A G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 170056248 170056248 A G SNP PALLD NM_016081 human genbank 54_36p 1 validated silent c.2229 p.R743 0.99 NULL "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,PatternScan_DEHYDRATASE_SER_THR" - no_errors NEK1 4750 broad.mit.edu 36 4 170634947 170634947 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 170634947 170634947 T A SNP NEK1 NM_012224 human genbank 54_36p -1 validated missense c.2253 p.K751N 0 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MFAP3L 9848 broad.mit.edu 36 4 171149977 171149977 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 171149977 171149977 G T SNP MFAP3L NM_021647 human genbank 54_36p -1 validated missense c.357 p.D119E 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors GALNTL6 442117 broad.mit.edu 36 4 173967244 173967244 + Silent SNP C C A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 173967244 173967244 C A SNP GALNTL6 NM_001034845 human genbank 54_36p 1 validated silent c.711 p.V237 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors SAP30 8819 broad.mit.edu 36 4 174529208 174529208 + Silent SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 174529208 174529208 C A SNP SAP30 NM_003864 human genbank 54_36p 1 reviewed silent c.300 p.I100 1 NULL NULL - no_errors GLRA3 8001 broad.mit.edu 36 4 175816848 175816848 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 175816848 175816848 C T SNP GLRA3 NM_006529 human genbank 54_36p -1 validated missense c.1003 p.A335T 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors ADAM29 11086 broad.mit.edu 36 4 176133429 176133429 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 4 176133429 176133429 G A SNP ADAM29 NM_014269 human genbank 54_36p 1 reviewed missense c.178 p.G60S 0.25 HMMPfam_Pep_M12B_propep "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR" - no_errors WDR17 116966 broad.mit.edu 36 4 177283414 177283414 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 177283414 177283414 T C SNP WDR17 NM_170710 human genbank 54_36p 1 reviewed missense c.776 p.I259T 1 "superfamily_Amine_DH_B_like,HMMSmart_WD40" "HMMSmart_WD40,HMMPfam_WD40,superfamily_Amine_DH_B_like,superfamily_WD40_like,PatternScan_WD_REPEATS_1" - no_errors WDR17 116966 broad.mit.edu 36 4 177326792 177326792 + Splice_Site SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 177326792 177326792 G T SNP WDR17 NM_170710 human genbank 54_36p 1 reviewed splice_site c.3084-1 e24-1 0 - - - no_errors SPCS3 60559 broad.mit.edu 36 4 177478319 177478319 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 177478319 177478319 A T SNP SPCS3 NM_021928 human genbank 54_36p 1 validated missense c.98 p.K33I 1 HMMPfam_SPC22 "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_SPC22" - no_errors SPCS3 60559 broad.mit.edu 36 4 177480368 177480368 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 177480368 177480368 T C SNP SPCS3 NM_021928 human genbank 54_36p 1 validated missense c.197 p.I66T 1 HMMPfam_SPC22 "HMMPfam_SPC22,PatternScan_TONB_DEPENDENT_REC_1" - no_errors ODZ3 10178 broad.mit.edu 36 4 183951076 183951076 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 183951076 183951076 G A SNP ODZ3 NM_001080477 human genbank 54_36p 1 provisional missense c.6257 p.R2086H 1 NULL "HMMPfam_Ten_N,HMMPfam_EGF_2,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196,HMMSmart_EGF,superfamily_CarboxypepD_reg,superfamily_SSF101898,HMMPfam_NHL,superfamily_SSF63829,HMMPfam_RHS_repeat" - no_errors DCTD 1635 broad.mit.edu 36 4 184052681 184052681 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 184052681 184052681 C G SNP DCTD NM_001012732 human genbank 54_36p -1 reviewed missense c.349 p.A117P 1 "HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES" "HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES" - no_errors WWC2 80014 broad.mit.edu 36 4 184427293 184427293 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 184427293 184427293 C T SNP WWC2 NM_024949 human genbank 54_36p 1 validated nonsense c.2383 p.R795* 0.01 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors RWDD4 201965 broad.mit.edu 36 4 184809194 184809194 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 184809194 184809194 C A SNP RWDD4A NM_152682 human genbank 54_36p -1 validated missense c.300 p.L100F 1 "HMMPfam_RWD,superfamily_UBQ-conjugat/RWD-like,HMMSmart_RWD" "HMMPfam_RWD,superfamily_UBQ-conjugat/RWD-like,HMMSmart_RWD" - no_errors STOX2 56977 broad.mit.edu 36 4 185168075 185168075 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 185168075 185168075 C T SNP STOX2 NM_020225 human genbank 54_36p 1 provisional missense c.1090 p.R364W 0.88 NULL HMMPfam_Stork_head - no_errors ACSL1 2180 broad.mit.edu 36 4 185926492 185926492 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 4 185926492 185926492 G A SNP ACSL1 NM_001995 human genbank 54_36p -1 reviewed missense c.1100 p.P367L 0.99 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors SNX25 83891 broad.mit.edu 36 4 186500204 186500204 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 186500204 186500204 G C SNP SNX25 NM_031953 human genbank 54_36p 1 validated missense c.1635 p.K545N 1 "superfamily_PX,HMMSmart_PX,HMMPfam_PX" "HMMPfam_PXA,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_PX,HMMSmart_PX,HMMPfam_PX,HMMPfam_Nexin_C" - no_errors PDLIM3 27295 broad.mit.edu 36 4 186666465 186666465 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 186666465 186666465 C G SNP PDLIM3 NM_014476 human genbank 54_36p -1 reviewed missense c.644 p.G215A 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors SORBS2 8470 broad.mit.edu 36 4 186773304 186773304 + Frame_Shift_Del DEL C - C novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 186773304 186773304 C - DEL SORBS2 NM_021069 human genbank 54_36p -1 reviewed frame_shift_del c.2643 p.E881fs 0.9 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "(deletion:cds_exon[186773193,186773307])" no_errors KLKB1 3818 broad.mit.edu 36 4 187390383 187390383 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 187390383 187390383 G A SNP KLKB1 NM_000892 human genbank 54_36p 1 reviewed missense c.167 p.R56K 0.92 "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1" "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors FAT1 2195 broad.mit.edu 36 4 187762555 187762555 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 187762555 187762555 C A SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.10518 p.K3506N 0.06 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 broad.mit.edu 36 4 187777935 187777935 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 187777935 187777935 C A SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.6799 p.V2267L 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 broad.mit.edu 36 4 187779859 187779859 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 187779859 187779859 T G SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.4875 p.L1625F 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT1 2195 broad.mit.edu 36 4 187786453 187786453 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 187786453 187786453 G C SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.4659 p.S1553R 0.34 "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors ZFP42 132625 broad.mit.edu 36 4 189161254 189161254 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 189161254 189161254 A C SNP ZFP42 NM_174900 human genbank 54_36p 1 validated missense c.299 p.K100T 0 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors TUBB4Q 56604 broad.mit.edu 36 4 191140885 191140886 + Missense_Mutation DNP TG TG AA novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 191140885 191140886 TG AA DNP TUBB4Q NM_020040 human genbank 54_36p -1 validated missense c.1092_1091 p.S364F 1.000:1.000 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_start_codon FRG2 448831 broad.mit.edu 36 4 191183946 191183946 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 4 191183946 191183946 G T SNP FRG2 NM_001005217 human genbank 54_36p -1 provisional missense c.601 p.P201T 0 NULL NULL - no_errors FRG2 448831 broad.mit.edu 36 4 191185200 191185200 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 191185200 191185200 T A SNP FRG2 NM_001005217 human genbank 54_36p -1 provisional missense c.154 p.S52C 0 NULL NULL - no_errors PLEKHG4B 153478 broad.mit.edu 36 5 209195 209195 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 209195 209195 G T SNP PLEKHG4B NM_052909 human genbank 54_36p 1 validated nonsense c.1150 p.E384* 0.01 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMSmart_SM00233" - no_errors SDHA 6389 broad.mit.edu 36 5 279126 279126 + Silent SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 279126 279126 G T SNP SDHA NM_004168 human genbank 54_36p 1 reviewed silent c.585 p.R195 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_2" ############################################################################################################################################################################################################################################################### - no_errors EXOC3 11336 broad.mit.edu 36 5 507157 507157 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 507157 507157 C A SNP EXOC3 NM_007277 human genbank 54_36p 1 reviewed missense c.1037 p.T346N 1 HMMPfam_Sec6 HMMPfam_Sec6 - no_errors CEP72 55722 broad.mit.edu 36 5 677630 677630 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 677630 677630 C T SNP CEP72 NM_018140 human genbank 54_36p 1 reviewed missense c.448 p.H150Y 0.96 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRcap" - no_errors CEP72 55722 broad.mit.edu 36 5 692308 692308 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 5 692308 692308 C A SNP CEP72 NM_018140 human genbank 54_36p 1 reviewed nonsense c.1311 p.C437* 0.66 NULL "HMMPfam_LRR_1,HMMSmart_LRRcap,superfamily_SSF52058" - no_errors BRD9 65980 broad.mit.edu 36 5 918625 918625 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 918625 918625 C A SNP BRD9 NM_023924 human genbank 54_36p -1 provisional missense c.1309 p.D437Y 1 NULL "superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain" - no_errors SLC12A7 10723 broad.mit.edu 36 5 1129888 1129889 + Nonsense_Mutation DNP CC CC GT novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 1129888 1129889 CC GT DNP SLC12A7 NM_006598 human genbank 54_36p -1 validated nonsense c.1669_1668 p.WAL556* 1.000:1.000 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors SLC6A18 348932 broad.mit.edu 36 5 1285360 1285360 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 1285360 1285360 G A SNP SLC6A18 NM_182632 human genbank 54_36p 1 validated missense c.187 p.A63T 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors CLPTM1L 81037 broad.mit.edu 36 5 1397548 1397548 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 1397548 1397548 T C SNP CLPTM1L NM_030782 human genbank 54_36p -1 provisional missense c.181 p.T61A 1 HMMPfam_CLPTM1 HMMPfam_CLPTM1 - no_errors SLC6A3 6531 broad.mit.edu 36 5 1485744 1485744 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 1485744 1485744 G A SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated missense c.488 p.A163V 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors LPCAT1 79888 broad.mit.edu 36 5 1547896 1547896 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 1547896 1547896 A C SNP LPCAT1 NM_024830 human genbank 54_36p -1 validated missense c.412 p.Y138D 1 "superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC" "PatternScan_EF_HAND_1,superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF47473,HMMSmart_EFh" - no_errors IRX4 50805 broad.mit.edu 36 5 1932925 1932925 + Silent SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 1932925 1932925 G C SNP IRX4 NM_016358 human genbank 54_36p -1 validated silent c.429 p.G143 1 "superfamily_Homeodomain-like,HMMSmart_SM00389" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_SM00548" - no_errors IRX1 79192 broad.mit.edu 36 5 3652431 3652431 + Silent SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 3652431 3652431 C T SNP IRX1 NM_024337 human genbank 54_36p 1 validated silent c.369 p.F123 1 superfamily_Homeodomain_like "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_IRO" - no_errors ADAMTS16 170690 broad.mit.edu 36 5 5288235 5288235 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 5288235 5288235 C T SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed silent c.1959 p.A653 0.84 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors ADAMTS16 170690 broad.mit.edu 36 5 5371299 5371299 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 5371299 5371299 C T SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed missense c.3464 p.A1155V 0 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS16 170690 broad.mit.edu 36 5 5371344 5371344 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 5371344 5371344 C T SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed missense c.3509 p.S1170L 0 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors KIAA0947 23379 broad.mit.edu 36 5 5513573 5513573 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 5513573 5513573 G A SNP KIAA0947 NM_015325 human genbank 54_36p 1 validated missense c.1126 p.D376N 0.69 NULL NULL - no_errors KIAA0947 23379 broad.mit.edu 36 5 5517525 5517525 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 5517525 5517525 C G SNP KIAA0947 NM_015325 human genbank 54_36p 1 validated missense c.5078 p.P1693R 0.01 NULL NULL - no_errors MED10 84246 broad.mit.edu 36 5 6425624 6425624 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 6425624 6425624 G A SNP MED10 NM_032286 human genbank 54_36p -1 validated missense c.400 p.P134S 0.9 NULL HMMPfam_Med10 - no_errors PAPD7 11044 broad.mit.edu 36 5 6801679 6801679 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 5 6801679 6801679 C G SNP POLS NM_006999 human genbank 54_36p 1 reviewed missense c.812 p.S271C 1 NULL "superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc" - no_errors PAPD7 11044 broad.mit.edu 36 5 6804185 6804185 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 6804185 6804185 G A SNP POLS NM_006999 human genbank 54_36p 1 reviewed missense c.1144 p.V382I 0.97 NULL "HMMPfam_PAP_assoc,HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain" - no_errors ADCY2 108 broad.mit.edu 36 5 7467689 7467689 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 7467689 7467689 G T SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.214 p.V72F 0.81 NULL "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors ADCY2 108 broad.mit.edu 36 5 7679422 7679422 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 5 7679422 7679422 G A SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.713 p.R238H 0.99 HMMSmart_CYCc "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY2 108 broad.mit.edu 36 5 7855364 7855364 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 7855364 7855364 G A SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.2662 p.V888I 1 "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase" "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY2 108 broad.mit.edu 36 5 7879918 7879918 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 7879918 7879918 C T SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed silent c.3210 p.D1070 1 "HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase" "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1" - no_errors MTRR 4552 broad.mit.edu 36 5 7950055 7950055 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 7950055 7950055 G T SNP MTRR NM_024010 human genbank 54_36p 1 reviewed missense c.1836 p.R612S 0.93 "superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" - no_errors SEMA5A 9037 broad.mit.edu 36 5 9277934 9277934 + Silent SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 9277934 9277934 C T SNP SEMA5A NM_003966 human genbank 54_36p -1 validated silent c.498 p.Q166 1 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1" - no_errors TAS2R1 50834 broad.mit.edu 36 5 9682601 9682601 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 9682601 9682601 C A SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed nonsense c.544 p.E182* 0 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors CCT5 22948 broad.mit.edu 36 5 10316335 10316335 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 10316335 10316335 T G SNP CCT5 NM_012073 human genbank 54_36p 1 reviewed missense c.1407 p.N469K 0.96 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like" - no_errors CTNND2 1501 broad.mit.edu 36 5 11289923 11289923 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 11289923 11289923 C G SNP CTNND2 NM_001332 human genbank 54_36p -1 validated missense c.1641 p.W547C 1 "superfamily_ARM repeat,HMMPfam_Arm" "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors DNAH5 1767 broad.mit.edu 36 5 13822114 13822114 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 13822114 13822114 C A SNP DNAH5 NM_001369 human genbank 54_36p -1 validated silent c.9852 p.L3284 0.99 NULL "HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH5 1767 broad.mit.edu 36 5 13822233 13822233 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 13822233 13822233 C T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.9733 p.V3245M 1 NULL "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 broad.mit.edu 36 5 13823873 13823873 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 5 13823873 13823873 C T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.9590 p.R3197Q 0.64 superfamily_SSF52540 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 broad.mit.edu 36 5 13823873 13823873 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 13823873 13823873 C T SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.9590 p.R3197Q 0.64 superfamily_SSF52540 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors DNAH5 1767 broad.mit.edu 36 5 13823874 13823874 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 13823874 13823874 G A SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.9589 p.R3197W 0.81 superfamily_SSF52540 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540" - no_errors TRIO 7204 broad.mit.edu 36 5 14350204 14350204 + Silent SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 14350204 14350204 C G SNP TRIO NM_007118 human genbank 54_36p 1 validated silent c.1200 p.R400 1 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors TRIO 7204 broad.mit.edu 36 5 14472940 14472940 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 14472940 14472940 C G SNP TRIO NM_007118 human genbank 54_36p 1 validated missense c.5013 p.N1671K 1 "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" ############################################################################################################################################################################################################################################################### - no_errors FAM105B 90268 broad.mit.edu 36 5 14734611 14734611 + Silent SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 14734611 14734611 G T SNP FAM105B NM_138348 human genbank 54_36p 1 validated silent c.363 p.R121 1 NULL NULL - no_errors FAM105B 90268 broad.mit.edu 36 5 14743252 14743252 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 14743252 14743252 A T SNP FAM105B NM_138348 human genbank 54_36p 1 validated missense c.699 p.K233N 1 NULL NULL - no_errors ZNF622 90441 broad.mit.edu 36 5 16504862 16504862 + Silent SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 16504862 16504862 C T SNP ZNF622 NM_033414 human genbank 54_36p -1 provisional silent c.1338 p.Q446 1 NULL "HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2" - no_errors FAM134B 54463 broad.mit.edu 36 5 16532054 16532054 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 16532054 16532054 A G SNP FAM134B NM_001034850 human genbank 54_36p -1 validated missense c.713 p.I238T 1 NULL NULL - no_errors MYO10 4651 broad.mit.edu 36 5 16725879 16725879 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 16725879 16725879 G A SNP MYO10 NM_012334 human genbank 54_36p -1 validated missense c.5228 p.A1743V 1 "HMMSmart_B41,HMMPfam_RA" "PatternScan_FERM_1,PatternScan_FERM_2,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_MyTH4,HMMPfam_MyTH4,HMMSmart_B41,HMMPfam_RA,superfamily_FERM_3-hlx,HMMPfam_FERM_M" - no_errors MYO10 4651 broad.mit.edu 36 5 16754433 16754433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 16754433 16754433 C T SNP MYO10 NM_012334 human genbank 54_36p -1 validated missense c.3071 p.R1024Q 1 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_RA,HMMPfam_MyTH4,HMMSmart_MyTH4,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_PH,HMMSmart_PH,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF52540" - no_errors CDH18 1016 broad.mit.edu 36 5 19519330 19519330 + Silent SNP A A T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 19519330 19519330 A T SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed silent c.1719 p.G573 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH18 1016 broad.mit.edu 36 5 19556547 19556547 + Silent SNP T T A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 19556547 19556547 T A SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed silent c.1488 p.V496 1 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors PRDM9 56979 broad.mit.edu 36 5 23558665 23558665 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 23558665 23558665 G A SNP PRDM9 NM_020227 human genbank 54_36p 1 provisional missense c.796 p.D266N 0.09 "superfamily_SSF82199,HMMSmart_SET" "superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_KRAB,HMMPfam_SSXRD,superfamily_SSF82199,HMMSmart_SET,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2" - no_errors PRDM9 56979 broad.mit.edu 36 5 23562102 23562102 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 5 23562102 23562102 C G SNP PRDM9 NM_020227 human genbank 54_36p 1 provisional missense c.1148 p.P383R 0.25 superfamily_SSF82199 "HMMSmart_SET,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_SSXRD,superfamily_SSF57667,superfamily_SSF82199" - no_errors PRDM9 56979 broad.mit.edu 36 5 23563012 23563012 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 23563012 23563012 C G SNP PRDM9 NM_020227 human genbank 54_36p 1 provisional missense c.2058 p.H686Q 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMSmart_SET,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_SSXRD,superfamily_SSF57667,superfamily_SSF82199" - no_errors PRDM9 56979 broad.mit.edu 36 5 23563434 23563434 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 5 23563434 23563434 C G SNP PRDM9 NM_020227 human genbank 54_36p 1 provisional missense c.2480 p.T827R 1 superfamily_SSF57667 "HMMSmart_SET,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_SSXRD,superfamily_SSF57667,superfamily_SSF82199" - no_errors CDH10 1008 broad.mit.edu 36 5 24523914 24523914 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 24523914 24523914 C T SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed missense c.1982 p.G661D 1 HMMPfam_Cadherin_C "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH9 1007 broad.mit.edu 36 5 26921537 26921537 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 26921537 26921537 C T SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed missense c.1825 p.A609T 0.99 NULL "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH9 1007 broad.mit.edu 36 5 26938369 26938369 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 26938369 26938369 T A SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed missense c.1226 p.D409V 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH9 1007 broad.mit.edu 36 5 27024174 27024174 + Silent SNP T T C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 27024174 27024174 T C SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed silent c.24 p.P8 0 NULL "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH6 1004 broad.mit.edu 36 5 31335411 31335411 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 31335411 31335411 G A SNP CDH6 NM_004932 human genbank 54_36p 1 reviewed missense c.727 p.G243S 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors RNASEN 29102 broad.mit.edu 36 5 31485180 31485180 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 31485180 31485180 T A SNP RNASEN NM_013235 human genbank 54_36p -1 validated missense c.2786 p.D929V 1 superfamily_RNase III catalytic domain-like (Pfam 00636) "superfamily_RNase III catalytic domain-like (Pfam 00636),HMMSmart_SM00535,PatternScan_RNASE_3_1,HMMPfam_Ribonuclease_3,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" - no_errors PDZD2 23037 broad.mit.edu 36 5 32096873 32096873 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 32096873 32096873 A T SNP PDZD2 NM_178140 human genbank 54_36p 1 reviewed missense c.2327 p.D776V 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ,PatternScan_PROTEIN_KINASE_ATP" - no_errors PDZD2 23037 broad.mit.edu 36 5 32125376 32125376 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 32125376 32125376 G A SNP PDZD2 NM_178140 human genbank 54_36p 1 reviewed missense c.6065 p.C2022Y 0.01 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,PatternScan_PROTEIN_KINASE_ATP" - no_errors PDZD2 23037 broad.mit.edu 36 5 32128781 32128781 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 32128781 32128781 T G SNP PDZD2 NM_178140 human genbank 54_36p 1 reviewed missense c.7739 p.L2580R 0.97 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,PatternScan_PROTEIN_KINASE_ATP" - no_errors TARS 6897 broad.mit.edu 36 5 33481256 33481256 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 33481256 33481256 G A SNP TARS NM_152295 human genbank 54_36p 1 reviewed missense c.127 p.G43S 1 NULL "HMMPfam_TGS,superfamily_TGS-like,superfamily_ThrRS/AlaRS common domain,HMMPfam_tRNA_SAD,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors ADAMTS12 81792 broad.mit.edu 36 5 33679330 33679330 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 33679330 33679330 G C SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed missense c.1482 p.N494K 0.97 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors RXFP3 51289 broad.mit.edu 36 5 33973156 33973156 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 33973156 33973156 C T SNP RXFP3 NM_016568 human genbank 54_36p 1 provisional missense c.554 p.A185V 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors SLC45A2 51151 broad.mit.edu 36 5 33990231 33990231 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 33990231 33990231 T A SNP SLC45A2 NM_016180 human genbank 54_36p -1 reviewed missense c.1024 p.M342L 1 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors SLC45A2 51151 broad.mit.edu 36 5 33999621 33999621 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 33999621 33999621 C A SNP SLC45A2 NM_016180 human genbank 54_36p -1 reviewed missense c.820 p.V274F 1 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors SLC45A2 51151 broad.mit.edu 36 5 33999763 33999763 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 33999763 33999763 G A SNP SLC45A2 NM_016180 human genbank 54_36p -1 reviewed silent c.678 p.L226 0.99 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors RAI14 26064 broad.mit.edu 36 5 34860034 34860034 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 34860034 34860034 C T SNP RAI14 NM_015577 human genbank 54_36p 1 validated missense c.2330 p.A777V 0.88 NULL "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors PRLR 5618 broad.mit.edu 36 5 35106079 35106079 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 35106079 35106079 G A SNP PRLR NM_000949 human genbank 54_36p -1 validated missense c.589 p.H197Y 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F1" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F1" - no_errors IL7R 3575 broad.mit.edu 36 5 35896794 35896794 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 5 35896794 35896794 A T SNP IL7R NM_002185 human genbank 54_36p 1 reviewed missense c.166 p.T56S 0.64 NULL "superfamily_Fibronectin type III,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1" - no_errors UGT3A1 133688 broad.mit.edu 36 5 36001288 36001288 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 36001288 36001288 T C SNP UGT3A1 NM_152404 human genbank 54_36p -1 provisional missense c.800 p.Y267C 0.95 "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT" "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors SKP2 6502 broad.mit.edu 36 5 36212823 36212823 + Splice_Site SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 36212823 36212823 G C SNP SKP2 NM_005983 human genbank 54_36p 1 reviewed splice_site c.902-1 e8-1 0.9 - - - no_errors C5orf33 133686 broad.mit.edu 36 5 36233495 36233495 + Silent SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 36233495 36233495 G A SNP C5orf33 NM_001085411 human genbank 54_36p -1 validated silent c.1095 p.L365 1 NULL "superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase" - no_errors NIPBL 25836 broad.mit.edu 36 5 37021621 37021621 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 37021621 37021621 C A SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed nonsense c.2582 p.S861* 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors C5orf42 65250 broad.mit.edu 36 5 37234612 37234612 + Silent SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 37234612 37234612 T A SNP C5orf42 NM_023073 human genbank 54_36p -1 predicted silent c.264 p.V88 0.89 NULL NULL - no_errors NUP155 9631 broad.mit.edu 36 5 37353868 37353868 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 37353868 37353868 C A SNP NUP155 NM_153485 human genbank 54_36p -1 reviewed nonsense c.2284 p.E762* 1 HMMPfam_Nucleoporin HMMPfam_Nucleoporin - no_errors WDR70 55100 broad.mit.edu 36 5 37515767 37515767 + Missense_Mutation SNP A A T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 37515767 37515767 A T SNP WDR70 NM_018034 human genbank 54_36p 1 provisional missense c.761 p.K254M 1 "superfamily_WD40_like,HMMSmart_WD40" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LIFR 3977 broad.mit.edu 36 5 38546409 38546409 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 38546409 38546409 C T SNP LIFR NM_002310 human genbank 54_36p -1 reviewed missense c.905 p.R302H 0 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors LIFR 3977 broad.mit.edu 36 5 38559435 38559435 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 38559435 38559435 A T SNP LIFR NM_002310 human genbank 54_36p -1 reviewed missense c.404 p.I135N 1 superfamily_Fibronectin type III "PatternScan_HEMATOPO_REC_L_F2,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" - no_errors OSMR 9180 broad.mit.edu 36 5 38969209 38969209 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 38969209 38969209 T C SNP OSMR NM_003999 human genbank 54_36p 1 reviewed missense c.2846 p.M949T 1 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors RICTOR 253260 broad.mit.edu 36 5 38983252 38983252 + Silent SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 38983252 38983252 C T SNP RICTOR NM_152756 human genbank 54_36p -1 validated silent c.4185 p.L1395 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_RasGEF_N" - no_errors RICTOR 253260 broad.mit.edu 36 5 38985589 38985589 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 38985589 38985589 G A SNP RICTOR NM_152756 human genbank 54_36p -1 validated missense c.4118 p.S1373F 1 superfamily_ARM repeat "HMMPfam_RasGEF_N,superfamily_ARM repeat" - no_errors RICTOR 253260 broad.mit.edu 36 5 38988275 38988275 + Silent SNP T T C novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 38988275 38988275 T C SNP RICTOR NM_152756 human genbank 54_36p -1 validated silent c.2907 p.V969 0.98 superfamily_ARM repeat "HMMPfam_RasGEF_N,superfamily_ARM repeat" - no_errors FYB 2533 broad.mit.edu 36 5 39170747 39170747 + Nonsense_Mutation SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 39170747 39170747 C A SNP FYB NM_001465 human genbank 54_36p -1 validated nonsense c.1642 p.G548* 1 "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" "PatternScan_XYLOSE_ISOMERASE_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors CARD6 84674 broad.mit.edu 36 5 40879379 40879379 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 40879379 40879379 G T SNP CARD6 NM_032587 human genbank 54_36p 1 reviewed missense c.652 p.V218F 0 NULL "superfamily_DEATH_like,HMMPfam_CARD" - no_errors C7 730 broad.mit.edu 36 5 41000604 41000604 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41000604 41000604 A C SNP C7 NM_000587 human genbank 54_36p 1 reviewed missense c.1754 p.E585A 0.68 "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" ############################################################################################################################################################################################################################################################### - no_errors C7 730 broad.mit.edu 36 5 41012639 41012639 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41012639 41012639 G A SNP C7 NM_000587 human genbank 54_36p 1 reviewed missense c.2105 p.C702Y 1 HMMSmart_FIMAC ############################################################################################################################################################################################################################################################### - no_errors C7 730 broad.mit.edu 36 5 41017274 41017274 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41017274 41017274 C T SNP C7 NM_000587 human genbank 54_36p 1 reviewed nonsense c.2374 p.R792* 0.26 HMMSmart_FIMAC ############################################################################################################################################################################################################################################################### - no_errors HEATR7B2 133558 broad.mit.edu 36 5 41068912 41068912 + Silent SNP A A T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41068912 41068912 A T SNP HEATR7B2 NM_173489 human genbank 54_36p -1 validated silent c.2349 p.I783 0.39 superfamily_ARM repeat superfamily_ARM repeat - no_errors HEATR7B2 133558 broad.mit.edu 36 5 41074650 41074650 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41074650 41074650 C G SNP HEATR7B2 NM_173489 human genbank 54_36p -1 validated missense c.2159 p.R720T 0.02 superfamily_ARM repeat superfamily_ARM repeat - no_errors HEATR7B2 133558 broad.mit.edu 36 5 41084285 41084285 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41084285 41084285 C G SNP HEATR7B2 NM_173489 human genbank 54_36p -1 validated missense c.1582 p.A528P 0.79 superfamily_ARM repeat superfamily_ARM repeat - no_errors HEATR7B2 133558 broad.mit.edu 36 5 41085273 41085273 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 41085273 41085273 G T SNP HEATR7B2 NM_173489 human genbank 54_36p -1 validated missense c.1367 p.T456N 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors PLCXD3 345557 broad.mit.edu 36 5 41417998 41417998 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 41417998 41417998 C T SNP PLCXD3 NM_001005473 human genbank 54_36p -1 validated missense c.499 p.G167R 1 superfamily_PLC-like_Pdiesterase_TIM-brl superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors PLCXD3 345557 broad.mit.edu 36 5 41546284 41546284 + Silent SNP T T A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 5 41546284 41546284 T A SNP PLCXD3 NM_001005473 human genbank 54_36p -1 validated silent c.102 p.P34 1 superfamily_PLC-like_Pdiesterase_TIM-brl superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GHR 2690 broad.mit.edu 36 5 42754535 42754535 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 42754535 42754535 G C SNP GHR NM_000163 human genbank 54_36p 1 reviewed missense c.1169 p.C390S 1 NULL "superfamily_Fibronectin type III,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F1" - no_errors MGC42105 167359 broad.mit.edu 36 5 43316048 43316048 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 43316048 43316048 G C SNP MGC42105 NM_153361 human genbank 54_36p 1 provisional missense c.771 p.L257F 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CCL28 56477 broad.mit.edu 36 5 43417739 43417739 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 43417739 43417739 C T SNP CCL28 NM_148672 human genbank 54_36p -1 reviewed missense c.364 p.G122S 0 NULL "superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CC" - no_errors C5orf34 375444 broad.mit.edu 36 5 43544461 43544461 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 43544461 43544461 G C SNP C5orf34 NM_198566 human genbank 54_36p -1 predicted missense c.260 p.T87S 1 NULL NULL - no_errors PAIP1 10605 broad.mit.edu 36 5 43574851 43574851 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 43574851 43574851 C A SNP PAIP1 NM_006451 human genbank 54_36p -1 reviewed missense c.778 p.D260Y 1 "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" "HMMPfam_PAM2,superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" - no_errors NNT 23530 broad.mit.edu 36 5 43691814 43691814 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 43691814 43691814 A T SNP NNT NM_012343 human genbank 54_36p 1 reviewed missense c.2175 p.E725D 1 HMMPfam_PNTB "superfamily_SSF52283,PatternScan_ALADH_PNT_1,HMMPfam_AlaDh_PNT_N,superfamily_NAD(P)-bd,HMMPfam_AlaDh_PNT_C,PatternScan_ALADH_PNT_2,HMMPfam_PNTB,superfamily_SSF52467" - no_errors NNT 23530 broad.mit.edu 36 5 43711491 43711491 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 43711491 43711491 A T SNP NNT NM_012343 human genbank 54_36p 1 reviewed missense c.2756 p.D919V 1 "HMMPfam_PNTB,superfamily_SSF52467" "HMMPfam_PNTB,HMMPfam_AlaDh_PNT_C,HMMPfam_AlaDh_PNT_N,PatternScan_ALADH_PNT_1,PatternScan_ALADH_PNT_2,superfamily_NAD(P)-bd,superfamily_SSF52283,superfamily_SSF52467" - no_errors PARP8 79668 broad.mit.edu 36 5 50164406 50164406 + Silent SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 50164406 50164406 C T SNP PARP8 NM_024615 human genbank 54_36p 1 provisional silent c.2268 p.D756 1 "superfamily_ADP-ribosylation,HMMPfam_PARP" "superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors ISL1 3670 broad.mit.edu 36 5 50721518 50721518 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 50721518 50721518 A G SNP ISL1 NM_002202 human genbank 54_36p 1 reviewed missense c.760 p.K254E 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PELO 53918 broad.mit.edu 36 5 52132066 52132066 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 52132066 52132066 G A SNP PELO NM_015946 human genbank 54_36p 1 reviewed nonsense c.81 p.W27* 1 HMMPfam_eRF1_1 "HMMPfam_eRF1_1,HMMPfam_eRF1_2,superfamily_L30e-like,HMMPfam_eRF1_3" - no_errors ITGA1 3672 broad.mit.edu 36 5 52219427 52219427 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 52219427 52219427 G A SNP ITGA1 NM_181501 human genbank 54_36p 1 reviewed missense c.797 p.R266Q 1 "superfamily_SSF69318,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" "superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA" - no_errors ARL15 54622 broad.mit.edu 36 5 53642036 53642036 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 53642036 53642036 G C SNP ARL15 NM_019087 human genbank 54_36p -1 validated missense c.31 p.L11V 1 NULL "HMMPfam_Arf,superfamily_SSF52540" - no_errors GZMA 3001 broad.mit.edu 36 5 54437145 54437145 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 54437145 54437145 A T SNP GZMA NM_006144 human genbank 54_36p 1 reviewed missense c.157 p.I53F 0.01 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors DHX29 54505 broad.mit.edu 36 5 54628947 54628947 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 54628947 54628947 C G SNP DHX29 NM_019030 human genbank 54_36p -1 validated missense c.298 p.G100R 1 NULL "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors SKIV2L2 23517 broad.mit.edu 36 5 54729004 54729004 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 54729004 54729004 G C SNP SKIV2L2 NM_015360 human genbank 54_36p 1 validated missense c.2185 p.V729L 1 NULL "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT" - no_errors DDX4 54514 broad.mit.edu 36 5 55070580 55070580 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 55070580 55070580 A C SNP DDX4 NM_024415 human genbank 54_36p 1 validated missense c.32 p.N11T 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors IL31RA 133396 broad.mit.edu 36 5 55248398 55248398 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 55248398 55248398 A G SNP IL31RA NM_139017 human genbank 54_36p 1 validated missense c.1988 p.N663S 0.02 NULL "HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3" - no_errors ANKRD55 79722 broad.mit.edu 36 5 55434103 55434103 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 55434103 55434103 G T SNP ANKRD55 NM_024669 human genbank 54_36p -1 validated missense c.1698 p.N566K 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors MAP3K1 4214 broad.mit.edu 36 5 56217522 56217522 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 56217522 56217522 C T SNP MAP3K1 NM_005921 human genbank 54_36p 1 validated missense c.3989 p.S1330L 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_ZF_RING_1,HMMPfam_SWIM,superfamily_SSF57850,HMMSmart_RING,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GPBP1 65056 broad.mit.edu 36 5 56562771 56562771 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 56562771 56562771 G A SNP GPBP1 NM_022913 human genbank 54_36p 1 validated missense c.277 p.G93R 1 NULL NULL - no_errors ACTBL2 345651 broad.mit.edu 36 5 56813689 56813689 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 56813689 56813689 G T SNP ACTBL2 NM_001017992 human genbank 54_36p -1 validated missense c.603 p.F201L 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors ACTBL2 345651 broad.mit.edu 36 5 56813808 56813808 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 56813808 56813808 G T SNP ACTBL2 NM_001017992 human genbank 54_36p -1 validated missense c.484 p.H162N 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain" - no_errors PLK2 10769 broad.mit.edu 36 5 57787629 57787629 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 57787629 57787629 G C SNP PLK2 NM_006622 human genbank 54_36p -1 validated missense c.1365 p.S455R 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF82615,HMMPfam_POLO_box" - no_errors DEPDC1B 55789 broad.mit.edu 36 5 60018679 60018679 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 60018679 60018679 G T SNP DEPDC1B NM_018369 human genbank 54_36p -1 validated missense c.181 p.Q61K 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" "superfamily_Winged helix DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049,superfamily_GTPase activation domain GAP,HMMPfam_RhoGAP" - no_errors NDUFAF2 91942 broad.mit.edu 36 5 60276887 60276887 + Silent SNP A A T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 60276887 60276887 A T SNP NDUFAF2 NM_174889 human genbank 54_36p 1 reviewed silent c.48 p.S16 0.74 NULL HMMPfam_NDUFA12 - no_errors KIF2A 3796 broad.mit.edu 36 5 61704091 61704091 + Silent SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 61704091 61704091 C T SNP KIF2A NM_001098511 human genbank 54_36p 1 validated silent c.1716 p.L572 1 NULL "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HTR1A 3350 broad.mit.edu 36 5 63293124 63293124 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 63293124 63293124 G A SNP HTR1A NM_000524 human genbank 54_36p -1 validated missense c.179 p.A60V 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TRIM23 373 broad.mit.edu 36 5 64928093 64928093 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 64928093 64928093 T G SNP TRIM23 NM_001656 human genbank 54_36p -1 reviewed missense c.1331 p.E444A 1 "HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" ############################################################################################################################################################################################################################################################### - no_errors ERBB2IP 55914 broad.mit.edu 36 5 65352971 65352971 + Splice_Site SNP T T A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 65352971 65352971 T A SNP ERBB2IP NM_018695 human genbank 54_36p 1 reviewed splice_site c.597+2 e6+2 1 - - - no_errors MAST4 375449 broad.mit.edu 36 5 66120331 66120331 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 66120331 66120331 C T SNP MAST4 NM_198828 human genbank 54_36p 1 validated missense c.595 p.R199C 1 NULL NULL - no_errors MAST4 375449 broad.mit.edu 36 5 66386056 66386056 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 66386056 66386056 C T SNP MAST4 NM_015183 human genbank 54_36p 1 validated missense c.176 p.S59L 1 NULL "HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors MAST4 375449 broad.mit.edu 36 5 66484432 66484432 + Silent SNP A A T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 66484432 66484432 A T SNP MAST4 NM_015183 human genbank 54_36p 1 validated silent c.2940 p.T980 0.06 "HMMSmart_PDZ,superfamily_PDZ" "HMMSmart_S_TK_X,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors MAST4 375449 broad.mit.edu 36 5 66495310 66495310 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 66495310 66495310 G A SNP MAST4 NM_015183 human genbank 54_36p 1 validated missense c.3980 p.R1327Q 0.95 NULL "HMMSmart_S_TK_X,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors TAF9 6880 broad.mit.edu 36 5 68701055 68701055 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 68701055 68701055 G C SNP TAF9 NM_016283 human genbank 54_36p -1 validated missense c.19 p.L7V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA" - no_errors CARTPT 9607 broad.mit.edu 36 5 71051001 71051001 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 71051001 71051001 C T SNP CARTPT ENST00000296777 human ensembl 54_36p 1 known missense c.125 p.S42F 1 HMMPfam_CART "HMMPfam_CART,superfamily_Satiety factor CART (cocaine and amphetamine regulated transcript)" - mismatch_between_exon_seq_and_reference TNPO1 3842 broad.mit.edu 36 5 72204229 72204229 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 72204229 72204229 G A SNP TNPO1 NM_002270 human genbank 54_36p 1 reviewed missense c.604 p.A202T 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT" - no_errors FCHO2 115548 broad.mit.edu 36 5 72400306 72400306 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 72400306 72400306 G T SNP FCHO2 NM_138782 human genbank 54_36p 1 provisional missense c.1523 p.S508I 1 NULL "HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_SAFF" - no_errors NSA2 10412 broad.mit.edu 36 5 74102274 74102274 + Silent SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 74102274 74102274 T C SNP TINP1 NM_014886 human genbank 54_36p 1 provisional silent c.405 p.V135 0.99 HMMPfam_Ribosomal_S8e HMMPfam_Ribosomal_S8e - no_errors GCNT4 51301 broad.mit.edu 36 5 74360422 74360422 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 74360422 74360422 C A SNP GCNT4 NM_016591 human genbank 54_36p -1 validated missense c.1197 p.R399S 1 NULL HMMPfam_Branch - no_errors POLK 51426 broad.mit.edu 36 5 74884060 74884060 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 74884060 74884060 G T SNP POLK NM_016218 human genbank 54_36p 1 validated missense c.143 p.R48I 1 NULL "superfamily_DNA/RNA polymerases,HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain,HMMSmart_SM00734" - no_errors POLK 51426 broad.mit.edu 36 5 74900959 74900959 + Silent SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 74900959 74900959 T C SNP POLK NM_016218 human genbank 54_36p 1 validated silent c.294 p.N98 1 superfamily_DNA/RNA polymerases "HMMPfam_IMS,HMMSmart_SM00734,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain,superfamily_DNA/RNA polymerases" - no_errors IQGAP2 10788 broad.mit.edu 36 5 75902200 75902200 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 75902200 75902200 C T SNP IQGAP2 NM_006633 human genbank 54_36p 1 validated nonsense c.343 p.Q115* 1 "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" ############################################################################################################################################################################################################################################################### - no_errors IQGAP2 10788 broad.mit.edu 36 5 76006216 76006216 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 76006216 76006216 C G SNP IQGAP2 NM_006633 human genbank 54_36p 1 validated missense c.3453 p.N1151K 1 "HMMSmart_SM00323,superfamily_GTPase activation domain GAP" ############################################################################################################################################################################################################################################################### - no_errors IQGAP2 10788 broad.mit.edu 36 5 76015371 76015371 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 76015371 76015371 G A SNP IQGAP2 NM_006633 human genbank 54_36p 1 validated missense c.3778 p.D1260N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors IQGAP2 10788 broad.mit.edu 36 5 76024953 76024953 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 76024953 76024953 T C SNP IQGAP2 NM_006633 human genbank 54_36p 1 validated missense c.3923 p.I1308T 0.98 NULL ############################################################################################################################################################################################################################################################### - no_errors IQGAP2 10788 broad.mit.edu 36 5 76032686 76032686 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 76032686 76032686 G C SNP IQGAP2 NM_006633 human genbank 54_36p 1 validated missense c.4397 p.G1466A 1 HMMPfam_RasGAP_C ############################################################################################################################################################################################################################################################### - no_errors S100Z 170591 broad.mit.edu 36 5 76206977 76206977 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 76206977 76206977 A G SNP S100Z NM_130772 human genbank 54_36p 1 validated missense c.37 p.I13V 1 "superfamily_EF-hand,HMMPfam_S_100" "superfamily_EF-hand,HMMPfam_S_100,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1" - no_errors TBCA 6902 broad.mit.edu 36 5 77024899 77024899 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 77024899 77024899 G C SNP TBCA NM_004607 human genbank 54_36p -1 reviewed missense c.194 p.P65R 1 "superfamily_Tubulin chaperone cofactor A,HMMPfam_TBCA" "superfamily_Tubulin chaperone cofactor A,HMMPfam_TBCA" - no_errors DMGDH 29958 broad.mit.edu 36 5 78358071 78358071 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 78358071 78358071 C G SNP DMGDH NM_013391 human genbank 54_36p -1 reviewed missense c.2122 p.D708H 1 "superfamily_Aminomethyltransferase folate-binding domain,HMMPfam_GCV_T" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain,superfamily_Aminomethyltransferase folate-binding domain,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_Aminomethyltransferase beta-barrel domain" - no_errors DMGDH 29958 broad.mit.edu 36 5 78395229 78395229 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 78395229 78395229 T C SNP DMGDH NM_013391 human genbank 54_36p -1 reviewed missense c.239 p.E80G 1 "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_DAO,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_Aminomethyltransferase beta-barrel domain,superfamily_Aminomethyltransferase folate-binding domain,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors CMYA5 202333 broad.mit.edu 36 5 79065129 79065129 + Silent SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 79065129 79065129 A T SNP CMYA5 NM_153610 human genbank 54_36p 1 validated silent c.4785 p.A1595 0 NULL "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_SPRY" - no_errors CMYA5 202333 broad.mit.edu 36 5 79069509 79069509 + Silent SNP A A G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 79069509 79069509 A G SNP CMYA5 NM_153610 human genbank 54_36p 1 validated silent c.9165 p.K3055 1 NULL "HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors CMYA5 202333 broad.mit.edu 36 5 79069609 79069609 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 79069609 79069609 G T SNP CMYA5 NM_153610 human genbank 54_36p 1 validated nonsense c.9265 p.E3089* 0.09 NULL "HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors THBS4 7060 broad.mit.edu 36 5 79404846 79404858 + Splice_Site DEL CTTTGCAGTCTGA - CTTTGCAGTCTGA novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D CTTTGCAGTCTGA CTTTGCAGTCTGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 79404846 79404858 CTTTGCAGTCTGA - DEL THBS4 NM_003248 human genbank 54_36p 1 reviewed splice_site_del c.1840-8_1840-1 e15-1 0.950:0.970:0.963:0.964:0.971:0.998:1.000:1.000:1.000:0.999:0.817:1.000:1.000 - - "(deletion:intron[79403976,79404853], cds_exon[79404854,79404906])" no_errors SERINC5 256987 broad.mit.edu 36 5 79482464 79482464 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 79482464 79482464 C A SNP SERINC5 NM_178276 human genbank 54_36p -1 validated missense c.1050 p.L350F 0.99 HMMPfam_Serinc "HMMPfam_Serinc,PatternScan_2FE2S_FER_1" - no_errors SPZ1 84654 broad.mit.edu 36 5 79652841 79652841 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 79652841 79652841 G C SNP SPZ1 NM_032567 human genbank 54_36p 1 provisional missense c.1051 p.E351Q 0 NULL NULL - no_errors MSH3 4437 broad.mit.edu 36 5 80003900 80003900 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 80003900 80003900 G C SNP MSH3 NM_002439 human genbank 54_36p 1 validated missense c.874 p.V292L 1 "superfamily_DNA repair protein MutS domain I,HMMPfam_MutS_I" ############################################################################################################################################################################################################################################################### - no_errors RASGRF2 5924 broad.mit.edu 36 5 80399737 80399737 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 80399737 80399737 G A SNP RASGRF2 NM_006909 human genbank 54_36p 1 validated missense c.526 p.E176K 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors RASGRF2 5924 broad.mit.edu 36 5 80445146 80445146 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 80445146 80445146 C A SNP RASGRF2 NM_006909 human genbank 54_36p 1 validated missense c.2121 p.N707K 1 "HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF" "HMMPfam_IQ,HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_PH domain-like" - no_errors RASGRF2 5924 broad.mit.edu 36 5 80544101 80544101 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 80544101 80544101 A T SNP RASGRF2 NM_006909 human genbank 54_36p 1 validated missense c.3317 p.Y1106F 1 "HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF" "HMMPfam_IQ,HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_PH domain-like" - no_errors ACOT12 134526 broad.mit.edu 36 5 80725571 80725571 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 80725571 80725571 C A SNP ACOT12 NM_130767 human genbank 54_36p -1 validated missense c.119 p.C40F 1 "superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT" "superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT,superfamily_Bet v1-like,HMMPfam_START" - no_errors VCAN 1462 broad.mit.edu 36 5 82870305 82870305 + Silent SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 82870305 82870305 A G SNP VCAN NM_004385 human genbank 54_36p 1 validated silent c.5727 p.S1909 0 NULL ############################################################################################################################################################################################################################################################### - no_errors VCAN 1462 broad.mit.edu 36 5 82871373 82871373 + Silent SNP T T C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 82871373 82871373 T C SNP VCAN NM_004385 human genbank 54_36p 1 validated silent c.6795 p.T2265 0.01 NULL ############################################################################################################################################################################################################################################################### - no_errors VCAN 1462 broad.mit.edu 36 5 82872631 82872631 + Missense_Mutation SNP G G A rs59948995 Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 82872631 82872631 G A SNP VCAN NM_004385 human genbank 54_36p 1 validated missense c.8053 p.V2685I 0 NULL ############################################################################################################################################################################################################################################################### - no_errors VCAN 1462 broad.mit.edu 36 5 82873282 82873282 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 82873282 82873282 G C SNP VCAN NM_004385 human genbank 54_36p 1 validated missense c.8704 p.E2902Q 0.47 NULL ############################################################################################################################################################################################################################################################### - no_errors EDIL3 10085 broad.mit.edu 36 5 83438390 83438390 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 83438390 83438390 G T SNP EDIL3 NM_005711 human genbank 54_36p -1 reviewed missense c.484 p.L162M 0.27 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors RASA1 5921 broad.mit.edu 36 5 86708052 86708052 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 86708052 86708052 G T SNP RASA1 NM_002890 human genbank 54_36p 1 reviewed missense c.2098 p.G700C 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00323" ############################################################################################################################################################################################################################################################### - no_errors MEF2C 4208 broad.mit.edu 36 5 88063386 88063386 + Silent SNP G G T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 88063386 88063386 G T SNP MEF2C NM_002397 human genbank 54_36p -1 validated silent c.726 p.P242 1 NULL "HMMSmart_SM00432,superfamily_SRF-like,PatternScan_MADS_BOX_1,HMMPfam_SRF-TF" - no_errors GPR98 84059 broad.mit.edu 36 5 90026254 90026254 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 90026254 90026254 A T SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.7925 p.E2642V 0.99 "HMMSmart_SM00237,HMMPfam_Calx-beta" "HMMSmart_SM00237,HMMPfam_Calx-beta,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP,PatternScan_A_DEAMINASE,PatternScan_LIPOYL,HMMPfam_GPS" - no_errors GPR98 84059 broad.mit.edu 36 5 90108038 90108038 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 90108038 90108038 T A SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.12416 p.I4139K 0.21 NULL "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors GPR98 84059 broad.mit.edu 36 5 90142094 90142094 + Silent SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 90142094 90142094 A G SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed silent c.15261 p.E5087 0.97 "HMMPfam_Calx-beta,HMMSmart_SM00237" "HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases" - no_errors ANKRD32 84250 broad.mit.edu 36 5 94048166 94048166 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 94048166 94048166 C G SNP ANKRD32 NM_032290 human genbank 54_36p 1 validated missense c.200 p.S67C 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors ANKRD32 84250 broad.mit.edu 36 5 94056760 94056760 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 94056760 94056760 T C SNP ANKRD32 NM_032290 human genbank 54_36p 1 validated missense c.1256 p.M419T 0.8 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors MCTP1 79772 broad.mit.edu 36 5 94072289 94072289 + Silent SNP G G C novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 5 94072289 94072289 G C SNP MCTP1 NM_024717 human genbank 54_36p -1 validated silent c.2820 p.V940 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors MCTP1 79772 broad.mit.edu 36 5 94270719 94270719 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 94270719 94270719 T G SNP MCTP1 NM_024717 human genbank 54_36p -1 validated missense c.1645 p.I549L 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors FAM81B 153643 broad.mit.edu 36 5 94811667 94811667 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 94811667 94811667 G A SNP FAM81B NM_152548 human genbank 54_36p 1 validated missense c.1284 p.M428I 1 NULL NULL - no_errors CAST 831 broad.mit.edu 36 5 96104194 96104194 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 96104194 96104194 G A SNP CAST NM_001750 human genbank 54_36p 1 reviewed missense c.1178 p.R393H 0.01 HMMPfam_Calpain_inhib HMMPfam_Calpain_inhib - no_errors CAST 831 broad.mit.edu 36 5 96105106 96105106 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 96105106 96105106 C G SNP CAST NM_173061 human genbank 54_36p 1 reviewed missense c.20 p.S7W 0.13 NULL HMMPfam_Calpain_inhib - no_errors LNPEP 4012 broad.mit.edu 36 5 96340696 96340696 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 96340696 96340696 G T SNP LNPEP NM_005575 human genbank 54_36p 1 reviewed nonsense c.118 p.E40* 1 NULL "superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1,PatternScan_SUBTILASE_ASP,PatternScan_COF_1,superfamily_Metalloproteases (zincins) catalytic domain,PatternScan_ZINC_PROTEASE" - no_errors LNPEP 4012 broad.mit.edu 36 5 96354552 96354552 + Silent SNP T T C novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 96354552 96354552 T C SNP LNPEP NM_005575 human genbank 54_36p 1 reviewed silent c.1209 p.F403 1 "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain" "PatternScan_COF_1,PatternScan_SUBTILASE_ASP,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain" - no_errors LNPEP 4012 broad.mit.edu 36 5 96359496 96359496 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 96359496 96359496 G T SNP LNPEP NM_005575 human genbank 54_36p 1 reviewed missense c.1544 p.R515L 0.51 "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain" "PatternScan_COF_1,PatternScan_SUBTILASE_ASP,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (zincins) catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain" - no_errors SLCO6A1 133482 broad.mit.edu 36 5 101783449 101783449 + Silent SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 101783449 101783449 C T SNP SLCO6A1 NM_173488 human genbank 54_36p -1 validated silent c.1452 p.G484 0.02 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SLCO6A1 133482 broad.mit.edu 36 5 101862268 101862268 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 101862268 101862268 C A SNP SLCO6A1 NM_173488 human genbank 54_36p -1 validated missense c.180 p.R60S 0 NULL "HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" - no_errors GIN1 54826 broad.mit.edu 36 5 102451740 102451740 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 102451740 102451740 C G SNP GIN1 NM_017676 human genbank 54_36p -1 validated missense c.1330 p.D444H 1 NULL "HMMPfam_zf-H2C2,superfamily_Ribonuclease H-like,HMMPfam_rve" - no_errors PPIP5K2 23262 broad.mit.edu 36 5 102546985 102546985 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 102546985 102546985 G A SNP HISPPD1 NM_015216 human genbank 54_36p 1 provisional missense c.3074 p.S1025N 1 NULL "superfamily_SSF56059,superfamily_SSF53254,HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1" - no_errors PJA2 9867 broad.mit.edu 36 5 108745197 108745197 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 108745197 108745197 T G SNP PJA2 NM_014819 human genbank 54_36p -1 validated missense c.138 p.K46N 1 NULL "PatternScan_N6_MTASE,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors MAN2A1 4124 broad.mit.edu 36 5 109131253 109131253 + Silent SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 109131253 109131253 T C SNP MAN2A1 NM_002372 human genbank 54_36p 1 reviewed silent c.954 p.V318 0.92 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors WDR36 134430 broad.mit.edu 36 5 110474532 110474532 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 110474532 110474532 A G SNP WDR36 NM_139281 human genbank 54_36p 1 reviewed missense c.1756 p.M586V 0.54 superfamily_WD40_like "superfamily_Amine_DH_B_like,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_Utp21" - no_errors CAMK4 814 broad.mit.edu 36 5 110847627 110847627 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 110847627 110847627 C A SNP CAMK4 NM_001744 human genbank 54_36p 1 reviewed missense c.986 p.A329E 0.99 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors STARD4 134429 broad.mit.edu 36 5 110865598 110865598 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 110865598 110865598 G T SNP STARD4 NM_139164 human genbank 54_36p -1 provisional missense c.243 p.S81R 1 "superfamily_SSF55961,HMMPfam_START" "superfamily_SSF55961,HMMPfam_START" - no_errors EPB41L4A 64097 broad.mit.edu 36 5 111532600 111532600 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 111532600 111532600 G A SNP EPB41L4A NM_022140 human genbank 54_36p -1 validated missense c.1841 p.S614L 1 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA" - no_errors APC 324 broad.mit.edu 36 5 112198581 112198581 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 112198581 112198581 G T SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.1778 p.W593L 1 "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding" - no_errors APC 324 broad.mit.edu 36 5 112203476 112203476 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 112203476 112203476 A G SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.4286 p.Q1429R 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 324 broad.mit.edu 36 5 112204836 112204836 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 112204836 112204836 A T SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.5646 p.R1882S 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors REEP5 7905 broad.mit.edu 36 5 112266101 112266101 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 112266101 112266101 C T SNP REEP5 NM_005669 human genbank 54_36p -1 validated missense c.226 p.E76K 1 HMMPfam_TB2_DP1_HVA22 HMMPfam_TB2_DP1_HVA22 - no_errors MCC 4163 broad.mit.edu 36 5 112514990 112514990 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 112514990 112514990 T A SNP MCC NM_001085377 human genbank 54_36p -1 reviewed missense c.656 p.K219M 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_MCC-bdg_PDZ" - no_errors TSSK1B 83942 broad.mit.edu 36 5 112797741 112797741 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 112797741 112797741 C T SNP TSSK1B NM_032028 human genbank 54_36p -1 provisional missense c.695 p.R232H 0.65 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors KCNN2 3781 broad.mit.edu 36 5 113768427 113768427 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 113768427 113768427 G A SNP KCNN2 NM_021614 human genbank 54_36p 1 reviewed missense c.976 p.A326T 1 "superfamily_SSF81324,HMMPfam_Ion_trans_2" "HMMPfam_SK_channel,superfamily_SSF81324,HMMPfam_Ion_trans_2,superfamily_CaM_bd,HMMPfam_CaMBD" - no_errors KCNN2 3781 broad.mit.edu 36 5 113836687 113836687 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 113836687 113836687 C T SNP KCNN2 NM_021614 human genbank 54_36p 1 reviewed missense c.1181 p.A394V 1 "HMMPfam_Ion_trans_2,superfamily_SSF81324" "HMMPfam_CaMBD,superfamily_CaM_bd,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_SSF81324" - no_errors TRIM36 55521 broad.mit.edu 36 5 114497487 114497487 + Silent SNP T T C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 114497487 114497487 T C SNP TRIM36 NM_018700 human genbank 54_36p -1 reviewed silent c.1503 p.R501 0.93 superfamily_Fibronectin type III "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors TRIM36 55521 broad.mit.edu 36 5 114497705 114497705 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 114497705 114497705 C T SNP TRIM36 NM_018700 human genbank 54_36p -1 reviewed missense c.1285 p.V429I 0.92 NULL "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,HMMPfam_fn3,superfamily_Fibronectin type III,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_B-box zinc-binding domain,superfamily_RING/U-box" - no_errors TNFAIP8 25816 broad.mit.edu 36 5 118756677 118756677 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 118756677 118756677 A C SNP TNFAIP8 NM_014350 human genbank 54_36p 1 validated missense c.299 p.E100A 1 HMMPfam_DUF758 HMMPfam_DUF758 - no_errors HSD17B4 3295 broad.mit.edu 36 5 118863133 118863133 + Missense_Mutation SNP A A G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 118863133 118863133 A G SNP HSD17B4 NM_000414 human genbank 54_36p 1 reviewed missense c.1195 p.I399V 0.79 superfamily_SSF54637 "superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_SSF54637,HMMPfam_MaoC_dehydratas,superfamily_SCP2,HMMPfam_SCP2" - no_errors FTMT 94033 broad.mit.edu 36 5 121215735 121215735 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 121215735 121215735 G T SNP FTMT NM_177478 human genbank 54_36p 1 validated missense c.178 p.G60W 0 NULL "PatternScan_FERRITIN_1,superfamily_Ferritin/RR_like,HMMPfam_Ferritin,PatternScan_FERRITIN_2" - no_errors SNCAIP 9627 broad.mit.edu 36 5 121789106 121789106 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 121789106 121789106 C T SNP SNCAIP NM_005460 human genbank 54_36p 1 reviewed missense c.1163 p.P388L 1 "superfamily_ANK,HMMSmart_ANK" "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" - no_errors PPIC 5480 broad.mit.edu 36 5 122389422 122389422 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 122389422 122389422 A C SNP PPIC NM_000943 human genbank 54_36p -1 reviewed missense c.466 p.L156V 0.99 "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase" "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors CEP120 153241 broad.mit.edu 36 5 122752141 122752141 + Silent SNP T T C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 122752141 122752141 T C SNP CEP120 NM_153223 human genbank 54_36p -1 validated silent c.1314 p.E438 0.14 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors ZNF608 57507 broad.mit.edu 36 5 124012540 124012540 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 124012540 124012540 C T SNP ZNF608 NM_020747 human genbank 54_36p -1 validated missense c.1436 p.R479Q 1 NULL PatternScan_ZINC_FINGER_C2H2_1 - no_errors ALDH7A1 501 broad.mit.edu 36 5 125915628 125915628 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 125915628 125915628 T C SNP ALDH7A1 NM_001182 human genbank 54_36p -1 reviewed missense c.1217 p.Y406C 1 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" "PatternScan_ALDEHYDE_DEHYDR_CYS,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors C5orf48 389320 broad.mit.edu 36 5 125999734 125999734 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 125999734 125999734 C G SNP C5orf48 NM_207408 human genbank 54_36p 1 predicted missense c.307 p.P103A 0.33 NULL NULL - no_errors LMNB1 4001 broad.mit.edu 36 5 126196373 126196373 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 126196373 126196373 A G SNP LMNB1 NM_005573 human genbank 54_36p 1 reviewed missense c.1700 p.E567G 0.96 NULL "HMMPfam_Filament,PatternScan_IF,superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors FBN2 2201 broad.mit.edu 36 5 127652801 127652801 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 127652801 127652801 C T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.6554 p.G2185D 1 "superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 broad.mit.edu 36 5 127672948 127672948 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 127672948 127672948 G A SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.5243 p.T1748I 0.99 "HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 broad.mit.edu 36 5 127713044 127713044 + Silent SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 127713044 127713044 C T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed silent c.2883 p.V961 1 "HMMSmart_SM00179,superfamily_TB module/8-cys domain,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 broad.mit.edu 36 5 127738240 127738240 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 127738240 127738240 A T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.2075 p.M692K 1 "HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 broad.mit.edu 36 5 127738326 127738326 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 127738326 127738326 C T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed silent c.1989 p.Q663 1 "HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors FBN2 2201 broad.mit.edu 36 5 127740396 127740396 + Silent SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 127740396 127740396 G A SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed silent c.1899 p.I633 1 "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors ADAMTS19 171019 broad.mit.edu 36 5 128825299 128825299 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 128825299 128825299 C A SNP ADAMTS19 NM_133638 human genbank 54_36p 1 reviewed missense c.679 p.L227M 0.91 HMMPfam_Pep_M12B_propep "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors ADAMTS19 171019 broad.mit.edu 36 5 129047732 129047732 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 129047732 129047732 G C SNP ADAMTS19 NM_133638 human genbank 54_36p 1 reviewed missense c.2667 p.Q889H 1 HMMPfam_ADAM_spacer1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS19 171019 broad.mit.edu 36 5 129047834 129047834 + Silent SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 129047834 129047834 C T SNP ADAMTS19 NM_133638 human genbank 54_36p 1 reviewed silent c.2769 p.S923 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS19 171019 broad.mit.edu 36 5 129098563 129098563 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 129098563 129098563 A T SNP ADAMTS19 NM_133638 human genbank 54_36p 1 reviewed missense c.3334 p.I1112F 0.96 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS19 171019 broad.mit.edu 36 5 129100807 129100807 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 129100807 129100807 T A SNP ADAMTS19 NM_133638 human genbank 54_36p 1 reviewed missense c.3621 p.S1207R 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors CHSY3 337876 broad.mit.edu 36 5 129549287 129549287 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 129549287 129549287 A T SNP CHSY3 NM_175856 human genbank 54_36p 1 validated missense c.2553 p.L851F 1 "HMMPfam_CHGN,superfamily_SSF53448" "HMMPfam_CHGN,superfamily_SSF53448" - no_errors RAPGEF6 51735 broad.mit.edu 36 5 130792511 130792511 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 130792511 130792511 G T SNP RAPGEF6 NM_016340 human genbank 54_36p -1 provisional missense c.4763 p.A1588E 1 NULL "superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00147,HMMPfam_RasGEF" - no_errors FNIP1 96459 broad.mit.edu 36 5 131160476 131160476 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 131160476 131160476 C T SNP FNIP1 NM_133372 human genbank 54_36p -1 validated missense c.38 p.R13K 0.94 NULL NULL - no_errors IL3 3562 broad.mit.edu 36 5 131426278 131426278 + Silent SNP C C A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 131426278 131426278 C A SNP IL3 NM_000588 human genbank 54_36p 1 reviewed silent c.354 p.I118 0 "HMMPfam_IL3,superfamily_4_helix_cytokine" "HMMPfam_IL3,superfamily_4_helix_cytokine" - no_errors PDLIM4 8572 broad.mit.edu 36 5 131634520 131634520 + Missense_Mutation SNP C C A rs62384133 Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 131634520 131634520 C A SNP PDLIM4 NM_003687 human genbank 54_36p 1 validated missense c.341 p.T114K 0 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors RAD50 10111 broad.mit.edu 36 5 131953269 131953269 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 131953269 131953269 G C SNP RAD50 NM_005732 human genbank 54_36p 1 reviewed missense c.1293 p.E431D 0.93 "HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Spectrin repeat,HMMPfam_Rad50_zn_hook,superfamily_Prefoldin" - no_errors RAD50 10111 broad.mit.edu 36 5 132004387 132004387 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 132004387 132004387 C G SNP RAD50 NM_005732 human genbank 54_36p 1 reviewed missense c.3743 p.A1248G 1 "HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SMC_N,HMMPfam_Rad50_zn_hook,superfamily_Prefoldin,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF3A 11127 broad.mit.edu 36 5 132066159 132066159 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 132066159 132066159 G A SNP KIF3A NM_007054 human genbank 54_36p -1 validated missense c.1667 p.A556V 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors SEPT8 23176 broad.mit.edu 36 5 132124565 132124565 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 132124565 132124565 G T SNP SEPT8 NM_001098811 human genbank 54_36p -1 validated missense c.1114 p.H372N 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Septin" - no_errors AFF4 27125 broad.mit.edu 36 5 132251476 132251476 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 132251476 132251476 G A SNP AFF4 NM_014423 human genbank 54_36p -1 validated missense c.2894 p.S965F 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors AFF4 27125 broad.mit.edu 36 5 132298123 132298123 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 5 132298123 132298123 G C SNP AFF4 NM_014423 human genbank 54_36p -1 validated missense c.533 p.S178C 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors PPP2CA 5515 broad.mit.edu 36 5 133569679 133569679 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 133569679 133569679 G A SNP PPP2CA NM_002715 human genbank 54_36p -1 reviewed nonsense c.145 p.R49* 1 "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156" "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE" - no_errors CATSPER3 347732 broad.mit.edu 36 5 134333576 134333576 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 134333576 134333576 C G SNP CATSPER3 NM_178019 human genbank 54_36p 1 validated missense c.147 p.S49R 0 superfamily_SSF81324 "superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors PITX1 5307 broad.mit.edu 36 5 134392496 134392496 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 134392496 134392496 C T SNP PITX1 NM_002653 human genbank 54_36p -1 reviewed missense c.817 p.V273I 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors FBXL21 26223 broad.mit.edu 36 5 135301012 135301012 + Splice_Site SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 135301012 135301012 G A SNP FBXL21 ENST00000297158 human ensembl 54_36p 1 known splice_site c.1-1 e1-1 1 - - - no_errors TGFBI 7045 broad.mit.edu 36 5 135417556 135417556 + Silent SNP A A C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 135417556 135417556 A C SNP TGFBI NM_000358 human genbank 54_36p 1 reviewed silent c.1152 p.A384 0.52 superfamily_FAS1 domain "HMMPfam_EMI,superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554" - no_errors TRPC7 57113 broad.mit.edu 36 5 135679364 135679364 + Silent SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 135679364 135679364 G A SNP TRPC7 ENST00000265193 human ensembl 54_36p -1 known silent c.780 p.N260 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans" - no_errors TRPC7 57113 broad.mit.edu 36 5 135720346 135720346 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 135720346 135720346 T A SNP TRPC7 ENST00000265193 human ensembl 54_36p -1 known missense c.626 p.D209V 1 HMMPfam_TRP_2 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2" - no_errors FAM53C 51307 broad.mit.edu 36 5 137710422 137710422 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 137710422 137710422 G A SNP FAM53C NM_016605 human genbank 54_36p 1 validated missense c.1054 p.V352M 1 NULL NULL - no_errors KDM3B 51780 broad.mit.edu 36 5 137755763 137755763 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 137755763 137755763 A G SNP JMJD1B NM_016604 human genbank 54_36p 1 validated missense c.2543 p.N848S 1 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors REEP2 51308 broad.mit.edu 36 5 137802824 137802824 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 137802824 137802824 G A SNP REEP2 NM_016606 human genbank 54_36p 1 provisional missense c.28 p.V10M 1 HMMPfam_TB2_DP1_HVA22 HMMPfam_TB2_DP1_HVA22 - no_errors ETF1 2107 broad.mit.edu 36 5 137882296 137882296 + Silent SNP G G T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 137882296 137882296 G T SNP ETF1 NM_004730 human genbank 54_36p -1 validated silent c.246 p.L82 1 "superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1,HMMPfam_eRF1_1" "superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1,HMMPfam_eRF1_1,superfamily_Translational machinery components,HMMPfam_eRF1_2,superfamily_L30e-like,HMMPfam_eRF1_3" - no_errors CTNNA1 1495 broad.mit.edu 36 5 138145513 138145513 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 138145513 138145513 A C SNP CTNNA1 NM_001903 human genbank 54_36p 1 validated missense c.1 p.M1L 1 NULL "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin,PatternScan_VINCULIN_1" - no_errors SLC23A1 9963 broad.mit.edu 36 5 138746824 138746824 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 138746824 138746824 G C SNP SLC23A1 NM_152685 human genbank 54_36p -1 reviewed missense c.18 p.D6E 0.89 NULL HMMPfam_Xan_ur_permease - no_errors PURA 5813 broad.mit.edu 36 5 139474425 139474425 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 139474425 139474425 C T SNP PURA NM_005859 human genbank 54_36p 1 reviewed missense c.475 p.L159F 1 "HMMPfam_PurA,HMMSmart_PUR" "HMMPfam_PurA,HMMSmart_PUR" - no_errors SLC4A9 83697 broad.mit.edu 36 5 139723890 139723890 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 139723890 139723890 C G SNP SLC4A9 NM_031467 human genbank 54_36p 1 validated missense c.1322 p.P441R 1 HMMPfam_HCO3_cotransp "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr" - no_errors ANKHD1-EIF4EBP3 404734 broad.mit.edu 36 5 139818393 139818393 + Splice_Site SNP G G T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 139818393 139818393 G T SNP ANKHD1-EIF4EBP3 NM_020690 human genbank 54_36p 1 reviewed splice_site c.1243-1 e8-1 1 - - - no_errors APBB3 10307 broad.mit.edu 36 5 139921380 139921380 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 139921380 139921380 A T SNP APBB3 NM_006051 human genbank 54_36p -1 reviewed missense c.744 p.S248R 1 "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID" - no_errors IK 3550 broad.mit.edu 36 5 140011547 140011547 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140011547 140011547 G T SNP IK NM_006083 human genbank 54_36p 1 reviewed missense c.148 p.A50S 1 NULL "HMMPfam_RED_N,HMMPfam_RED_C" - no_errors WDR55 54853 broad.mit.edu 36 5 140024686 140024686 + Missense_Mutation SNP A A C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140024686 140024686 A C SNP WDR55 NM_017706 human genbank 54_36p 1 validated missense c.5 p.D2A 0.75 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WDR55 54853 broad.mit.edu 36 5 140029001 140029001 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140029001 140029001 A C SNP WDR55 NM_017706 human genbank 54_36p 1 validated missense c.814 p.T272P 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors HARS 3035 broad.mit.edu 36 5 140034798 140034798 + Silent SNP A A G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 140034798 140034798 A G SNP HARS NM_002109 human genbank 54_36p -1 reviewed silent c.1299 p.D433 1 "superfamily_Anticodon_bd,HMMPfam_HGTP_anticodon" "superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_SSF55681,HMMPfam_tRNA-synt_2b,superfamily_Anticodon_bd,HMMPfam_HGTP_anticodon" - no_errors PCDHA2 56146 broad.mit.edu 36 5 140155165 140155165 + Silent SNP A A G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 140155165 140155165 A G SNP PCDHA2 NM_018905 human genbank 54_36p 1 reviewed silent c.432 p.E144 0.92 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA2 56146 broad.mit.edu 36 5 140155966 140155966 + Silent SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140155966 140155966 C T SNP PCDHA2 NM_018905 human genbank 54_36p 1 reviewed silent c.1233 p.S411 0.01 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA3 56145 broad.mit.edu 36 5 140162814 140162814 + Silent SNP C C T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140162814 140162814 C T SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed silent c.1848 p.G616 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA3 56145 broad.mit.edu 36 5 140163241 140163241 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140163241 140163241 T C SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed missense c.2275 p.C759R 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA4 56144 broad.mit.edu 36 5 140167040 140167040 + Silent SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140167040 140167040 C T SNP PCDHA4 NM_018907 human genbank 54_36p 1 reviewed silent c.84 p.N28 0.59 superfamily_Cadherin-like "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA4 56144 broad.mit.edu 36 5 140167356 140167356 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140167356 140167356 C T SNP PCDHA4 NM_018907 human genbank 54_36p 1 reviewed missense c.400 p.P134S 0.86 superfamily_Cadherin-like "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA4 56144 broad.mit.edu 36 5 140167813 140167813 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140167813 140167813 C T SNP PCDHA4 NM_018907 human genbank 54_36p 1 reviewed missense c.857 p.S286L 0 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA4 56144 broad.mit.edu 36 5 140168261 140168261 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140168261 140168261 G A SNP PCDHA4 NM_018907 human genbank 54_36p 1 reviewed silent c.1305 p.L435 0.1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA4 56144 broad.mit.edu 36 5 140168448 140168448 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140168448 140168448 C T SNP PCDHA4 NM_018907 human genbank 54_36p 1 reviewed missense c.1492 p.R498W 0.41 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA5 56143 broad.mit.edu 36 5 140182202 140182202 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140182202 140182202 G A SNP PCDHA5 NM_018908 human genbank 54_36p 1 reviewed missense c.658 p.E220K 0.54 "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA7 56141 broad.mit.edu 36 5 140194240 140194240 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140194240 140194240 C T SNP PCDHA7 NM_018910 human genbank 54_36p 1 reviewed nonsense c.88 p.Q30* 0.99 "superfamily_Cadherin-like,HMMPfam_Cadherin_2" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA8 56140 broad.mit.edu 36 5 140202119 140202119 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140202119 140202119 A C SNP PCDHA8 NM_018911 human genbank 54_36p 1 reviewed missense c.1029 p.K343N 0 "superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA9 9752 broad.mit.edu 36 5 140208677 140208677 + Missense_Mutation SNP A A G rs364101 "by-cluster,by-frequency,by-submitter,by-hapmap" TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140208677 140208677 A G SNP PCDHA9 NM_031857 human genbank 54_36p 1 reviewed missense c.413 p.K138R 0.01 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA9 9752 broad.mit.edu 36 5 140209215 140209215 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 140209215 140209215 G T SNP PCDHA9 NM_031857 human genbank 54_36p 1 reviewed missense c.951 p.K317N 0.02 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA9 9752 broad.mit.edu 36 5 140209219 140209219 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 5 140209219 140209219 C T SNP PCDHA9 NM_031857 human genbank 54_36p 1 reviewed missense c.955 p.P319S 0 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA10 56139 broad.mit.edu 36 5 140217167 140217167 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140217167 140217167 C G SNP PCDHA10 NM_018901 human genbank 54_36p 1 reviewed missense c.1350 p.N450K 0.88 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA10 56139 broad.mit.edu 36 5 140217176 140217176 + Silent SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140217176 140217176 G A SNP PCDHA10 NM_018901 human genbank 54_36p 1 reviewed silent c.1359 p.A453 0 superfamily_Cadherin-like "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA11 56138 broad.mit.edu 36 5 140229831 140229831 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140229831 140229831 A G SNP PCDHA11 NM_018902 human genbank 54_36p 1 reviewed missense c.959 p.Q320R 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA12 56137 broad.mit.edu 36 5 140237296 140237296 + Silent SNP C C T novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140237296 140237296 C T SNP PCDHA12 NM_018903 human genbank 54_36p 1 reviewed silent c.2055 p.G685 0.02 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA13 56136 broad.mit.edu 36 5 140242751 140242751 + Silent SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140242751 140242751 C T SNP PCDHA13 NM_018904 human genbank 54_36p 1 reviewed silent c.714 p.N238 0.87 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHA13 56136 broad.mit.edu 36 5 140242876 140242876 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140242876 140242876 C T SNP PCDHA13 NM_018904 human genbank 54_36p 1 reviewed missense c.839 p.S280L 0.82 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHA13 56136 broad.mit.edu 36 5 140244061 140244061 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140244061 140244061 C T SNP PCDHA13 NM_018904 human genbank 54_36p 1 reviewed missense c.2024 p.A675V 0 HMMSmart_SM00112 "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHAC1 56135 broad.mit.edu 36 5 140288470 140288470 + Silent SNP G G A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140288470 140288470 G A SNP PCDHAC1 NM_018898 human genbank 54_36p 1 reviewed silent c.1809 p.A603 0.38 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHAC2 56134 broad.mit.edu 36 5 140327822 140327822 + Silent SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140327822 140327822 A G SNP PCDHAC2 NM_018899 human genbank 54_36p 1 reviewed silent c.1287 p.R429 0.99 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHAC2 56134 broad.mit.edu 36 5 140369490 140369490 + Silent SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140369490 140369490 C T SNP PCDHAC2 NM_018899 human genbank 54_36p 1 reviewed silent c.2808 p.S936 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHB2 56133 broad.mit.edu 36 5 140454591 140454591 + Silent SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 5 140454591 140454591 G T SNP PCDHB2 NM_018936 human genbank 54_36p 1 reviewed silent c.33 p.P11 0.23 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB2 56133 broad.mit.edu 36 5 140455013 140455013 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140455013 140455013 C A SNP PCDHB2 NM_018936 human genbank 54_36p 1 reviewed missense c.455 p.T152N 0.02 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB2 56133 broad.mit.edu 36 5 140456591 140456591 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140456591 140456591 C T SNP PCDHB2 NM_018936 human genbank 54_36p 1 reviewed missense c.2033 p.A678V 0 NULL "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB3 56132 broad.mit.edu 36 5 140461793 140461793 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140461793 140461793 T C SNP PCDHB3 NM_018937 human genbank 54_36p 1 reviewed missense c.1376 p.F459S 0 "superfamily_Cadherin-like,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB4 56131 broad.mit.edu 36 5 140483358 140483358 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140483358 140483358 G A SNP PCDHB4 NM_018938 human genbank 54_36p 1 reviewed missense c.1594 p.A532T 0.91 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHB5 26167 broad.mit.edu 36 5 140495805 140495805 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 140495805 140495805 G A SNP PCDHB5 NM_015669 human genbank 54_36p 1 reviewed missense c.605 p.R202Q 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHB5 26167 broad.mit.edu 36 5 140496729 140496729 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140496729 140496729 G A SNP PCDHB5 NM_015669 human genbank 54_36p 1 reviewed missense c.1529 p.G510D 0.98 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB6 56130 broad.mit.edu 36 5 140511666 140511666 + Silent SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140511666 140511666 G A SNP PCDHB6 NM_018939 human genbank 54_36p 1 reviewed silent c.1644 p.L548 0.04 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB7 56129 broad.mit.edu 36 5 140533226 140533226 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140533226 140533226 G A SNP PCDHB7 NM_018940 human genbank 54_36p 1 reviewed missense c.626 p.S209N 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112" - no_errors PCDHB7 56129 broad.mit.edu 36 5 140533502 140533502 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140533502 140533502 T C SNP PCDHB7 NM_018940 human genbank 54_36p 1 reviewed missense c.902 p.L301P 0.22 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHB7 56129 broad.mit.edu 36 5 140534449 140534449 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140534449 140534449 G A SNP PCDHB7 NM_018940 human genbank 54_36p 1 reviewed missense c.1849 p.V617M 0.06 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHB16 57717 broad.mit.edu 36 5 140542463 140542463 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140542463 140542463 G C SNP PCDHB16 NM_020957 human genbank 54_36p 1 reviewed missense c.145 p.G49R 0.58 "HMMPfam_Cadherin_2,superfamily_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMSmart_CA,HMMPfam_Cadherin" - no_errors PCDHB16 57717 broad.mit.edu 36 5 140542871 140542872 + Missense_Mutation DNP TT TT GA novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140542871 140542872 TT GA DNP PCDHB16 NM_020957 human genbank 54_36p 1 reviewed missense c.553_554 p.F185D 0.000:0.000 "HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB16 57717 broad.mit.edu 36 5 140544180 140544180 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140544180 140544180 A G SNP PCDHB16 NM_020957 human genbank 54_36p 1 reviewed missense c.1862 p.N621S 0.67 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB16 57717 broad.mit.edu 36 5 140544190 140544190 + Silent SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140544190 140544190 G A SNP PCDHB16 NM_020957 human genbank 54_36p 1 reviewed silent c.1872 p.V624 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB9 56127 broad.mit.edu 36 5 140547432 140547432 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140547432 140547432 C G SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.356 p.A119G 0 superfamily_Cadherin-like "HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB9 56127 broad.mit.edu 36 5 140547997 140547997 + Silent SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140547997 140547997 T G SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed silent c.921 p.L307 0.05 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHB10 56126 broad.mit.edu 36 5 140553349 140553349 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140553349 140553349 T A SNP PCDHB10 NM_018930 human genbank 54_36p 1 reviewed missense c.1040 p.L347Q 0.96 superfamily_Cadherin "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHB10 56126 broad.mit.edu 36 5 140553698 140553698 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140553698 140553698 C A SNP PCDHB10 NM_018930 human genbank 54_36p 1 reviewed missense c.1389 p.N463K 1 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB10 56126 broad.mit.edu 36 5 140553983 140553983 + Silent SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140553983 140553983 G A SNP PCDHB10 NM_018930 human genbank 54_36p 1 reviewed silent c.1674 p.S558 0.85 "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB11 56125 broad.mit.edu 36 5 140559950 140559950 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140559950 140559950 T C SNP PCDHB11 NM_018931 human genbank 54_36p 1 reviewed missense c.419 p.L140P 0.01 "superfamily_Cadherin,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB11 56125 broad.mit.edu 36 5 140560913 140560913 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140560913 140560913 G A SNP PCDHB11 NM_018931 human genbank 54_36p 1 reviewed missense c.1382 p.R461H 0 "HMMPfam_Cadherin,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB11 56125 broad.mit.edu 36 5 140561196 140561196 + Silent SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140561196 140561196 C T SNP PCDHB11 NM_018931 human genbank 54_36p 1 reviewed silent c.1665 p.N555 1 "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB12 56124 broad.mit.edu 36 5 140570171 140570171 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140570171 140570171 T G SNP PCDHB12 NM_018932 human genbank 54_36p 1 reviewed missense c.1508 p.L503R 0 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB13 56123 broad.mit.edu 36 5 140574459 140574460 + Missense_Mutation DNP GA GA CG novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140574459 140574460 GA CG DNP PCDHB13 NM_018933 human genbank 54_36p 1 reviewed missense c.580_581 p.E194R 0.516:0.520 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHB13 56123 broad.mit.edu 36 5 140574541 140574541 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140574541 140574541 C T SNP PCDHB13 NM_018933 human genbank 54_36p 1 reviewed missense c.662 p.P221L 0.26 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB13 56123 broad.mit.edu 36 5 140575353 140575353 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140575353 140575353 C G SNP PCDHB13 NM_018933 human genbank 54_36p 1 reviewed missense c.1474 p.P492A 0.15 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB13 56123 broad.mit.edu 36 5 140576137 140576138 + Missense_Mutation DNP TG TG CT novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140576137 140576138 TG CT DNP PCDHB13 NM_018933 human genbank 54_36p 1 reviewed missense c.2258_2259 p.V753A 0.968:0.944 NULL "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHB14 56122 broad.mit.edu 36 5 140583647 140583647 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140583647 140583647 A T SNP PCDHB14 NM_018934 human genbank 54_36p 1 reviewed missense c.386 p.H129L 0.98 "PatternScan_CADHERIN_1,superfamily_Cadherin" "HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDHB14 56122 broad.mit.edu 36 5 140584797 140584797 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140584797 140584797 C G SNP PCDHB14 NM_018934 human genbank 54_36p 1 reviewed missense c.1536 p.H512Q 0 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDHGA2 56113 broad.mit.edu 36 5 140698942 140698942 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140698942 140698942 C T SNP PCDHGA2 NM_018915 human genbank 54_36p 1 reviewed missense c.220 p.L74F 1 "HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2" "HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA3 56112 broad.mit.edu 36 5 140705711 140705711 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140705711 140705711 G T SNP PCDHGA3 NM_018916 human genbank 54_36p 1 reviewed missense c.1927 p.V643L 0.97 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA3 56112 broad.mit.edu 36 5 140705880 140705880 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 5 140705880 140705880 C T SNP PCDHGA3 NM_018916 human genbank 54_36p 1 reviewed missense c.2096 p.A699V 0 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGB1 56104 broad.mit.edu 36 5 140711189 140711189 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140711189 140711189 C A SNP PCDHGB1 NM_018922 human genbank 54_36p 1 reviewed missense c.1178 p.T393N 0.05 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGB3 56102 broad.mit.edu 36 5 140731825 140731825 + Silent SNP G G T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140731825 140731825 G T SNP PCDHGB3 NM_018924 human genbank 54_36p 1 reviewed silent c.1680 p.P560 0 "superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1" "HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA7 56108 broad.mit.edu 36 5 140744874 140744874 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140744874 140744874 G T SNP PCDHGA7 NM_018920 human genbank 54_36p 1 reviewed missense c.2224 p.G742C 1 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGB4 8641 broad.mit.edu 36 5 140749606 140749606 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140749606 140749606 G A SNP PCDHGB4 NM_003736 human genbank 54_36p 1 reviewed silent c.1971 p.T657 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGB5 56101 broad.mit.edu 36 5 140758483 140758483 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 140758483 140758483 G A SNP PCDHGB5 NM_018925 human genbank 54_36p 1 reviewed missense c.605 p.R202Q 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA9 56107 broad.mit.edu 36 5 140763341 140763341 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140763341 140763341 C T SNP PCDHGA9 NM_018921 human genbank 54_36p 1 reviewed missense c.638 p.T213M 0.99 "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1" - no_errors PCDHGB6 56100 broad.mit.edu 36 5 140769188 140769188 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140769188 140769188 G A SNP PCDHGB6 NM_018926 human genbank 54_36p 1 reviewed missense c.1235 p.R412Q 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA10 56106 broad.mit.edu 36 5 140773042 140773042 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140773042 140773042 T G SNP PCDHGA10 NM_018913 human genbank 54_36p 1 reviewed missense c.116 p.I39S 0.59 "superfamily_Cadherin-like,HMMPfam_Cadherin_2" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA10 56106 broad.mit.edu 36 5 140773414 140773414 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140773414 140773414 A C SNP PCDHGA10 NM_018913 human genbank 54_36p 1 reviewed missense c.488 p.D163A 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA10 56106 broad.mit.edu 36 5 140774133 140774133 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140774133 140774133 G C SNP PCDHGA10 NM_018913 human genbank 54_36p 1 reviewed missense c.1207 p.D403H 0 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA10 56106 broad.mit.edu 36 5 140774373 140774373 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140774373 140774373 C G SNP PCDHGA10 NM_018913 human genbank 54_36p 1 reviewed missense c.1447 p.P483A 0.99 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGB7 56099 broad.mit.edu 36 5 140778607 140778607 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140778607 140778607 G A SNP PCDHGB7 NM_018927 human genbank 54_36p 1 reviewed missense c.997 p.V333I 0.99 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGB7 56099 broad.mit.edu 36 5 140778821 140778821 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140778821 140778821 T G SNP PCDHGB7 NM_018927 human genbank 54_36p 1 reviewed missense c.1211 p.L404R 0.76 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA11 56105 broad.mit.edu 36 5 140781349 140781350 + Missense_Mutation DNP TA TA GG novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 TA TA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140781349 140781350 TA GG DNP PCDHGA11 NM_018914 human genbank 54_36p 1 reviewed missense c.371_372 p.I124R 0.993:0.617 "superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGA11 56105 broad.mit.edu 36 5 140781683 140781683 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140781683 140781683 T G SNP PCDHGA11 NM_018914 human genbank 54_36p 1 reviewed missense c.705 p.D235E 0.24 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA11 56105 broad.mit.edu 36 5 140781782 140781782 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140781782 140781782 G A SNP PCDHGA11 NM_018914 human genbank 54_36p 1 reviewed silent c.804 p.T268 0.25 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors PCDHGA12 26025 broad.mit.edu 36 5 140792798 140792798 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 140792798 140792798 C T SNP PCDHGA12 NM_003735 human genbank 54_36p 1 reviewed missense c.2288 p.S763L 0.91 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDHGC3 5098 broad.mit.edu 36 5 140836006 140836014 + In_Frame_Del DEL GTGGGCAAC - GTGGGCAAC novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 GTGGGCAAC GTGGGCAAC - - GTGGGCAAC GTGGGCAAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 5 140836006 140836014 GTGGGCAAC - DEL PCDHGC3 NM_002588 human genbank 54_36p 1 reviewed in_frame_del c.139_147 p.GNV48in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_Cadherin-like,HMMPfam_Cadherin_2" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" "(deletion:cds_exon[140835868,140838297])" no_errors PCDHGC5 56097 broad.mit.edu 36 5 140851075 140851075 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 140851075 140851075 T A SNP PCDHGC5 NM_018929 human genbank 54_36p 1 reviewed missense c.2084 p.I695N 1 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors FCHSD1 89848 broad.mit.edu 36 5 141001279 141001279 + Silent SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 141001279 141001279 C T SNP FCHSD1 NM_033449 human genbank 54_36p -1 provisional silent c.2043 p.P681 1 NULL "HMMSmart_SM00055,HMMPfam_FCH,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_SH3_2" - no_errors FCHSD1 89848 broad.mit.edu 36 5 141006472 141006472 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 141006472 141006472 A G SNP FCHSD1 NM_033449 human genbank 54_36p -1 provisional missense c.926 p.V309A 0.99 NULL "HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2" - no_errors ARAP3 64411 broad.mit.edu 36 5 141032024 141032024 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 141032024 141032024 G A SNP ARAP3 NM_022481 human genbank 54_36p -1 reviewed nonsense c.1414 p.Q472* 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP,HMMPfam_RA" - no_errors PCDH1 5097 broad.mit.edu 36 5 141228507 141228507 + Silent SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 141228507 141228507 C T SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed silent c.714 p.L238 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_GREAB_2,HMMPfam_Protocadherin" - no_errors PCDH1 5097 broad.mit.edu 36 5 141228620 141228620 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 141228620 141228620 C T SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed missense c.601 p.G201S 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin,PatternScan_GREAB_2" - no_errors PCDH12 51294 broad.mit.edu 36 5 141317388 141317388 + Silent SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 141317388 141317388 C G SNP PCDH12 NM_016580 human genbank 54_36p -1 reviewed silent c.213 p.L71 0.03 "superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors NR3C1 2908 broad.mit.edu 36 5 142641666 142641666 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 142641666 142641666 A G SNP NR3C1 NM_001024094 human genbank 54_36p -1 reviewed missense c.2318 p.L773P 1 superfamily_Str_ncl_receptor "HMMPfam_GCR,HMMSmart_ZnF_C4,superfamily_SSF57716,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors KCTD16 57528 broad.mit.edu 36 5 143567042 143567042 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 143567042 143567042 G A SNP KCTD16 NM_020768 human genbank 54_36p 1 validated missense c.572 p.R191Q 1 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" - no_errors KCTD16 57528 broad.mit.edu 36 5 143833771 143833771 + Silent SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 143833771 143833771 G A SNP KCTD16 NM_020768 human genbank 54_36p 1 validated silent c.1188 p.E396 1 NULL "HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold" - no_errors TCERG1 10915 broad.mit.edu 36 5 145867680 145867680 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 145867680 145867680 C G SNP TCERG1 NM_006706 human genbank 54_36p 1 reviewed missense c.2962 p.P988A 1 "HMMSmart_SM00441,HMMPfam_FF,superfamily_FF domain" "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF" - no_errors GPR151 134391 broad.mit.edu 36 5 145874993 145874993 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 145874993 145874993 C T SNP GPR151 NM_194251 human genbank 54_36p -1 provisional missense c.877 p.V293I 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors DPYSL3 1809 broad.mit.edu 36 5 146760540 146760540 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 146760540 146760540 G C SNP DPYSL3 NM_001387 human genbank 54_36p -1 validated missense c.1018 p.Q340E 1 "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" "superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556" - no_errors JAKMIP2 9832 broad.mit.edu 36 5 147031461 147031461 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 147031461 147031461 C G SNP JAKMIP2 NM_014790 human genbank 54_36p -1 provisional missense c.102 p.Q34H 1 NULL NULL - no_errors SCGB3A2 117156 broad.mit.edu 36 5 147241259 147241259 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 147241259 147241259 C T SNP SCGB3A2 NM_054023 human genbank 54_36p 1 provisional missense c.113 p.P38L 0.05 NULL NULL - no_errors FBXO38 81545 broad.mit.edu 36 5 147775749 147775749 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 147775749 147775749 T A SNP FBXO38 NM_205836 human genbank 54_36p 1 validated missense c.1330 p.S444T 1 superfamily_RNI-like "superfamily_F-box domain,HMMPfam_F-box,superfamily_RNI-like" - no_errors FBXO38 81545 broad.mit.edu 36 5 147787703 147787703 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 147787703 147787703 G C SNP FBXO38 NM_205836 human genbank 54_36p 1 validated missense c.2653 p.E885Q 1 NULL "HMMPfam_F-box,superfamily_RNI-like,superfamily_F-box domain" - no_errors FBXO38 81545 broad.mit.edu 36 5 147800981 147800981 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 147800981 147800981 G A SNP FBXO38 NM_205836 human genbank 54_36p 1 validated missense c.3376 p.D1126N 1 NULL "HMMPfam_F-box,superfamily_RNI-like,superfamily_F-box domain" - no_errors HTR4 3360 broad.mit.edu 36 5 147869419 147869419 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 147869419 147869419 G C SNP HTR4 NM_001040173 human genbank 54_36p -1 reviewed missense c.869 p.P290R 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SH3TC2 79628 broad.mit.edu 36 5 148388284 148388284 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 148388284 148388284 C T SNP SH3TC2 NM_024577 human genbank 54_36p -1 reviewed missense c.1204 p.V402I 0 NULL "superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_SH3_1,HMMSmart_SM00326,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors ABLIM3 22885 broad.mit.edu 36 5 148576783 148576783 + Silent SNP A A T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 148576783 148576783 A T SNP ABLIM3 NM_014945 human genbank 54_36p 1 validated silent c.738 p.G246 1 "HMMSmart_SM00132,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors ABLIM3 22885 broad.mit.edu 36 5 148607627 148607627 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 148607627 148607627 C A SNP ABLIM3 NM_014945 human genbank 54_36p 1 validated missense c.1641 p.S547R 1 NULL "HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors AFAP1L1 134265 broad.mit.edu 36 5 148676037 148676037 + Silent SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 148676037 148676037 C A SNP AFAP1L1 NM_152406 human genbank 54_36p 1 provisional silent c.1245 p.T415 0 superfamily_PH domain-like "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PPARGC1B 133522 broad.mit.edu 36 5 149180263 149180263 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149180263 149180263 C A SNP PPARGC1B NM_133263 human genbank 54_36p 1 provisional missense c.153 p.D51E 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors PPARGC1B 133522 broad.mit.edu 36 5 149186536 149186536 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149186536 149186536 C T SNP PPARGC1B NM_133263 human genbank 54_36p 1 provisional silent c.360 p.D120 0.05 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors PPARGC1B 133522 broad.mit.edu 36 5 149190629 149190629 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149190629 149190629 C T SNP PPARGC1B NM_133263 human genbank 54_36p 1 provisional missense c.572 p.P191L 0.99 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors PDE6A 5145 broad.mit.edu 36 5 149263419 149263419 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149263419 149263419 G C SNP PDE6A NM_000440 human genbank 54_36p -1 reviewed missense c.1098 p.D366E 0.79 "HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781" "superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors TIGD6 81789 broad.mit.edu 36 5 149355814 149355814 + Silent SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149355814 149355814 A G SNP TIGD6 NM_030953 human genbank 54_36p -1 validated silent c.291 p.T97 0.05 "superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind,HMMSmart_CENPB" "HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind,HMMSmart_CENPB,HMMPfam_DDE" - no_errors CSF1R 1436 broad.mit.edu 36 5 149440663 149440663 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149440663 149440663 G C SNP CSF1R NM_005211 human genbank 54_36p -1 reviewed missense c.167 p.P56R 0.03 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors PDGFRB 5159 broad.mit.edu 36 5 149496770 149496770 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149496770 149496770 G C SNP PDGFRB NM_002609 human genbank 54_36p -1 reviewed missense c.34 p.L12V 0.31 NULL "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors TCOF1 6949 broad.mit.edu 36 5 149733928 149733928 + Splice_Site SNP A A C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 149733928 149733928 A C SNP TCOF1 NM_001008656 human genbank 54_36p 1 reviewed splice_site c.871-2 e8-2 0.02 - - - no_errors NDST1 3340 broad.mit.edu 36 5 149881247 149881247 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149881247 149881247 C T SNP NDST1 NM_001543 human genbank 54_36p 1 validated missense c.238 p.R80C 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors NDST1 3340 broad.mit.edu 36 5 149887837 149887837 + Silent SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149887837 149887837 C G SNP NDST1 NM_001543 human genbank 54_36p 1 validated silent c.792 p.A264 1 NULL "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NDST1 3340 broad.mit.edu 36 5 149895493 149895493 + Silent SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 149895493 149895493 G A SNP NDST1 NM_001543 human genbank 54_36p 1 validated silent c.1290 p.A430 0.23 NULL "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RBM22 55696 broad.mit.edu 36 5 150060704 150060704 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 150060704 150060704 G A SNP RBM22 NM_018047 human genbank 54_36p -1 reviewed nonsense c.37 p.Q13* 1 NULL "HMMSmart_SM00356,HMMPfam_zf-CCCH,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ZNF300 91975 broad.mit.edu 36 5 150255570 150255570 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 150255570 150255570 G A SNP ZNF300 NM_052860 human genbank 54_36p -1 provisional missense c.1424 p.S475F 0.03 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors TNIP1 10318 broad.mit.edu 36 5 150421932 150421932 + Silent SNP G G C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 150421932 150421932 G C SNP TNIP1 NM_006058 human genbank 54_36p -1 validated silent c.306 p.A102 0 NULL NULL - no_errors CCDC69 26112 broad.mit.edu 36 5 150565218 150565218 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 150565218 150565218 T A SNP CCDC69 NM_015621 human genbank 54_36p -1 validated missense c.60 p.E20D 0.14 NULL NULL - no_errors SLC36A3 285641 broad.mit.edu 36 5 150637392 150637392 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 150637392 150637392 G A SNP SLC36A3 NM_181774 human genbank 54_36p -1 validated missense c.1168 p.R390C 0.98 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors FAT2 2196 broad.mit.edu 36 5 150872082 150872082 + Silent SNP A A G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 150872082 150872082 A G SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed silent c.11742 p.D3914 0.95 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors FAT2 2196 broad.mit.edu 36 5 150897668 150897668 + Silent SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 150897668 150897668 T A SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed silent c.9072 p.V3024 0.28 "HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT2 2196 broad.mit.edu 36 5 150900507 150900507 + Silent SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 150900507 150900507 G T SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed silent c.8853 p.P2951 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT2 2196 broad.mit.edu 36 5 150902687 150902687 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 150902687 150902687 G C SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed missense c.8194 p.P2732A 0.54 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors SPARC 6678 broad.mit.edu 36 5 151027277 151027277 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 151027277 151027277 T A SNP SPARC NM_003118 human genbank 54_36p -1 provisional missense c.529 p.T177S 1 "HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand" "superfamily_EGF/Laminin,HMMSmart_SM00274,HMMPfam_FOLN,PatternScan_OSTEONECTIN_1,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_Kazal-type serine protease inhibitors,HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand,PatternScan_OSTEONECTIN_2,PatternScan_EF_HAND_1" - no_errors G3BP1 10146 broad.mit.edu 36 5 151159746 151159746 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 151159746 151159746 C G SNP G3BP1 NM_005754 human genbank 54_36p 1 reviewed missense c.947 p.P316R 0.99 superfamily_RNA-binding domain RBD "HMMPfam_NTF2,superfamily_NTF2-like,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors GLRA1 2741 broad.mit.edu 36 5 151214884 151214884 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 151214884 151214884 C A SNP GLRA1 NM_000171 human genbank 54_36p -1 reviewed missense c.607 p.A203S 1 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors NMUR2 56923 broad.mit.edu 36 5 151764166 151764166 + Silent SNP G G A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 151764166 151764166 G A SNP NMUR2 NM_020167 human genbank 54_36p -1 reviewed silent c.702 p.V234 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GRIA1 2890 broad.mit.edu 36 5 153058649 153058649 + Silent SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 153058649 153058649 C T SNP GRIA1 NM_000827 human genbank 54_36p 1 reviewed silent c.1275 p.N425 1 "HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRIA1 2890 broad.mit.edu 36 5 153170810 153170810 + Silent SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 153170810 153170810 C T SNP GRIA1 NM_000827 human genbank 54_36p 1 reviewed silent c.2553 p.N851 0.99 NULL "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors GRIA1 2890 broad.mit.edu 36 5 153170951 153170951 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 153170951 153170951 G A SNP GRIA1 NM_000827 human genbank 54_36p 1 reviewed silent c.2694 p.G898 1 NULL "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors LARP1 23367 broad.mit.edu 36 5 154163167 154163167 + Splice_Site SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 154163167 154163167 G T SNP LARP1 NM_033551 human genbank 54_36p 1 validated splice_site c.2233+1 e12+1 1 - - - no_errors C5orf4 10826 broad.mit.edu 36 5 154183346 154183346 + Splice_Site SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 154183346 154183346 C T SNP C5orf4 NM_032385 human genbank 54_36p -1 validated splice_site c.367-1 e5-1 1 - - - no_errors GEMIN5 25929 broad.mit.edu 36 5 154259047 154259047 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 154259047 154259047 C G SNP GEMIN5 NM_015465 human genbank 54_36p -1 validated missense c.3031 p.A1011P 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors KIF4B 285643 broad.mit.edu 36 5 154375434 154375434 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 154375434 154375434 C G SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.1822 p.Q608E 1 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HAVCR1 26762 broad.mit.edu 36 5 156415058 156415058 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 156415058 156415058 G C SNP HAVCR1 NM_001099414 human genbank 54_36p -1 validated missense c.111 p.H37Q 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set,PatternScan_IG_MHC" - no_errors ITK 3702 broad.mit.edu 36 5 156577476 156577476 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 156577476 156577476 C T SNP ITK NM_005546 human genbank 54_36p 1 reviewed missense c.476 p.P159L 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ITK 3702 broad.mit.edu 36 5 156597709 156597709 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 156597709 156597709 G C SNP ITK NM_005546 human genbank 54_36p 1 reviewed missense c.781 p.A261P 1 "HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain" ############################################################################################################################################################################################################################################################### - no_errors ITK 3702 broad.mit.edu 36 5 156601293 156601293 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 5 156601293 156601293 G T SNP ITK NM_005546 human genbank 54_36p 1 reviewed missense c.1045 p.A349S 1 superfamily_SH2 domain ############################################################################################################################################################################################################################################################### - no_errors ITK 3702 broad.mit.edu 36 5 156605577 156605577 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 156605577 156605577 G A SNP ITK NM_005546 human genbank 54_36p 1 reviewed silent c.1623 p.V541 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors CYFIP2 26999 broad.mit.edu 36 5 156671363 156671363 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 156671363 156671363 G T SNP CYFIP2 ENST00000347377 human ensembl 54_36p 1 known missense c.1106 p.S369I 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors ADAM19 8728 broad.mit.edu 36 5 156849979 156849979 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 156849979 156849979 C A SNP ADAM19 NM_023038 human genbank 54_36p -1 reviewed missense c.2161 p.D721Y 0.71 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ADAM19 8728 broad.mit.edu 36 5 156865338 156865338 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 156865338 156865338 G T SNP ADAM19 NM_033274 human genbank 54_36p -1 reviewed missense c.1047 p.H349Q 1 "HMMPfam_Reprolysin,superfamily_Metalloproteases (zincins) catalytic domain" ############################################################################################################################################################################################################################################################### - no_errors CLINT1 9685 broad.mit.edu 36 5 157165621 157165621 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 157165621 157165621 G A SNP CLINT1 NM_014666 human genbank 54_36p -1 validated missense c.773 p.T258M 1 NULL "superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273" - no_errors CLINT1 9685 broad.mit.edu 36 5 157169305 157169305 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 157169305 157169305 C T SNP CLINT1 NM_014666 human genbank 54_36p -1 validated missense c.604 p.G202S 1 NULL "HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273" - no_errors EBF1 1879 broad.mit.edu 36 5 158456626 158456626 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 158456626 158456626 G A SNP EBF1 NM_024007 human genbank 54_36p -1 validated silent c.225 p.Y75 1 NULL "PatternScan_COE,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors RNF145 153830 broad.mit.edu 36 5 158520861 158520861 + Silent SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 158520861 158520861 G A SNP RNF145 NM_144726 human genbank 54_36p -1 provisional silent c.1701 p.I567 1 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors ATP10B 23120 broad.mit.edu 36 5 159949258 159949258 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 159949258 159949258 A C SNP ATP10B NM_025153 human genbank 54_36p -1 validated missense c.3669 p.D1223E 0.03 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3" - no_errors ATP10B 23120 broad.mit.edu 36 5 159981990 159982020 + Frame_Shift_Del DEL GCTCGGTGGTTGTGGACACCATGACAGAGTT - GCTCGGTGGTTGTGGACACCATGACAGAGTT novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W GCTCGGTGGTTGTGGACACCATGACAGAGTT GCTCGGTGGTTGTGGACACCATGACAGAGTT - - GCTCGGTGGTTGTGGACACCATGACAGAGTT GCTCGGTGGTTGTGGACACCATGACAGAGTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 5 159981990 159982020 GCTCGGTGGTTGTGGACACCATGACAGAGTT - DEL ATP10B NM_025153 human genbank 54_36p -1 validated frame_shift_del c.1801_1771 p.N591fs 0.995:0.892:0.888:0.848:0.430:0.621:0.632:0.547:0.837:0.829:0.840:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.513:0.975:0.996:1.000:1.000:1.000 superfamily_HAD-like "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3" "(deletion:cds_exon[159981979,159982170])" no_errors GABRA6 2559 broad.mit.edu 36 5 161049874 161049874 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 161049874 161049874 G C SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed missense c.763 p.V255L 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GABRA6 2559 broad.mit.edu 36 5 161049887 161049887 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 161049887 161049887 A G SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed missense c.776 p.Q259R 1 "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GABRA6 2559 broad.mit.edu 36 5 161061197 161061197 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 161061197 161061197 C T SNP GABRA6 NM_000811 human genbank 54_36p 1 reviewed missense c.1202 p.P401L 0.21 "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors GABRG2 2566 broad.mit.edu 36 5 161508812 161508812 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 161508812 161508812 C G SNP GABRG2 NM_198904 human genbank 54_36p 1 reviewed missense c.1043 p.S348C 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors ODZ2 57451 broad.mit.edu 36 5 167450237 167450237 + Silent SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 167450237 167450237 C A SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known silent c.1596 p.T532 0.69 NULL ############################################################################################################################################################################################################################################################### - no_errors ODZ2 57451 broad.mit.edu 36 5 167577995 167577995 + Silent SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 167577995 167577995 C T SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known silent c.4518 p.N1506 0.91 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat" ############################################################################################################################################################################################################################################################### - no_errors ODZ2 57451 broad.mit.edu 36 5 167585814 167585814 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 167585814 167585814 C A SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known missense c.5249 p.S1750Y 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors ODZ2 57451 broad.mit.edu 36 5 167607395 167607395 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 167607395 167607395 C G SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known missense c.6870 p.N2290K 1 HMMPfam_RHS_repeat ############################################################################################################################################################################################################################################################### - no_errors WWC1 23286 broad.mit.edu 36 5 167824343 167824343 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 167824343 167824343 G A SNP WWC1 NM_015238 human genbank 54_36p 1 provisional missense c.2948 p.R983H 1 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors RARS 5917 broad.mit.edu 36 5 167861609 167861609 + Silent SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 167861609 167861609 G A SNP RARS NM_002887 human genbank 54_36p 1 reviewed silent c.978 p.L326 1 "HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase" ############################################################################################################################################################################################################################################################### - no_errors PANK3 79646 broad.mit.edu 36 5 167923585 167923585 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 167923585 167923585 C G SNP PANK3 NM_024594 human genbank 54_36p -1 reviewed missense c.699 p.E233D 1 "superfamily_SSF53067,HMMPfam_Fumble" "superfamily_SSF53067,HMMPfam_Fumble" - no_errors SLIT3 6586 broad.mit.edu 36 5 168045305 168045305 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 168045305 168045305 C T SNP SLIT3 NM_003062 human genbank 54_36p -1 validated missense c.3520 p.A1174T 0.87 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors SLIT3 6586 broad.mit.edu 36 5 168611032 168611032 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 168611032 168611032 G T SNP SLIT3 NM_003062 human genbank 54_36p -1 validated missense c.207 p.D69E 1 "HMMSmart_SM00369,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors CCDC99 54908 broad.mit.edu 36 5 168958138 168958138 + Silent SNP T T G novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 168958138 168958138 T G SNP CCDC99 NM_017785 human genbank 54_36p 1 validated silent c.1113 p.L371 1 NULL NULL - no_errors DOCK2 1794 broad.mit.edu 36 5 169368318 169368318 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 169368318 169368318 G C SNP DOCK2 NM_004946 human genbank 54_36p 1 validated missense c.3222 p.W1074C 1 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c" - no_errors DOCK2 1794 broad.mit.edu 36 5 169416307 169416307 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 169416307 169416307 G A SNP DOCK2 NM_004946 human genbank 54_36p 1 validated missense c.4337 p.R1446Q 1 NULL "HMMSmart_SM00326,superfamily_SH3-domain,superfamily_Cytochrome c,HMMPfam_SH3_2" - no_errors KCNMB1 3779 broad.mit.edu 36 5 169738505 169738505 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 169738505 169738505 G A SNP KCNMB1 NM_004137 human genbank 54_36p -1 reviewed silent c.357 p.D119 0.76 HMMPfam_CaKB HMMPfam_CaKB - no_errors KCNMB1 3779 broad.mit.edu 36 5 169744940 169744940 + Silent SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 169744940 169744940 G C SNP KCNMB1 NM_004137 human genbank 54_36p -1 reviewed silent c.90 p.T30 1 HMMPfam_CaKB HMMPfam_CaKB - no_errors FBXW11 23291 broad.mit.edu 36 5 171251159 171251159 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 5 171251159 171251159 G A SNP FBXW11 NM_012300 human genbank 54_36p -1 reviewed missense c.706 p.R236C 1 "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors STK10 6793 broad.mit.edu 36 5 171412610 171412610 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 171412610 171412610 T G SNP STK10 NM_005990 human genbank 54_36p -1 reviewed missense c.2694 p.K898N 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors STK10 6793 broad.mit.edu 36 5 171453036 171453036 + Silent SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 171453036 171453036 G T SNP STK10 NM_005990 human genbank 54_36p -1 reviewed silent c.1539 p.G513 1 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors STK10 6793 broad.mit.edu 36 5 171466249 171466250 + Missense_Mutation DNP CG CG AA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CG CG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 171466249 171466250 CG AA DNP STK10 NM_005990 human genbank 54_36p -1 reviewed missense c.768_767 p.T256I 0.956:1.000 "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors SH3PXD2B 285590 broad.mit.edu 36 5 171698541 171698541 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 171698541 171698541 A C SNP SH3PXD2B NM_001017995 human genbank 54_36p -1 validated missense c.2173 p.S725A 0 NULL "superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors SH3PXD2B 285590 broad.mit.edu 36 5 171698702 171698702 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 171698702 171698702 C G SNP SH3PXD2B NM_001017995 human genbank 54_36p -1 validated missense c.2012 p.R671T 0.29 NULL "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PX,HMMSmart_PX,superfamily_PX" - no_errors DUSP1 1843 broad.mit.edu 36 5 172129786 172129786 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 172129786 172129786 G T SNP DUSP1 NM_004417 human genbank 54_36p -1 reviewed missense c.497 p.T166N 1 NULL "superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors STC2 8614 broad.mit.edu 36 5 172677475 172677475 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 172677475 172677475 T A SNP STC2 NM_003714 human genbank 54_36p -1 reviewed missense c.890 p.Y297F 1 NULL HMMPfam_Stanniocalcin - no_errors CPLX2 10814 broad.mit.edu 36 5 175238527 175238527 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 175238527 175238527 G C SNP CPLX2 NM_001008220 human genbank 54_36p 1 reviewed missense c.42 p.K14N 1 HMMPfam_Synaphin HMMPfam_Synaphin - no_errors CPLX2 10814 broad.mit.edu 36 5 175239564 175239564 + Silent SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175239564 175239564 C T SNP CPLX2 NM_001008220 human genbank 54_36p 1 reviewed silent c.315 p.C105 1 HMMPfam_Synaphin HMMPfam_Synaphin - no_errors C5orf25 375484 broad.mit.edu 36 5 175673374 175673374 + Silent SNP C C G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175673374 175673374 C G SNP C5orf25 NM_198567 human genbank 54_36p 1 validated silent c.1752 p.T584 0.8 NULL NULL - no_errors KIAA1191 57179 broad.mit.edu 36 5 175707319 175707319 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175707319 175707319 A C SNP KIAA1191 NM_001079685 human genbank 54_36p -1 validated missense c.808 p.L270V 0.89 NULL NULL - no_errors NOP16 51491 broad.mit.edu 36 5 175743843 175743843 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175743843 175743843 C A SNP NOP16 NM_016391 human genbank 54_36p -1 provisional nonsense c.532 p.E178* 0.95 NULL HMMPfam_Nop16 - no_errors CDHR2 54825 broad.mit.edu 36 5 175935757 175935757 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175935757 175935757 G A SNP PCDH24 NM_017675 human genbank 54_36p 1 reviewed missense c.1159 p.D387N 0 superfamily_Cadherin "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" - no_errors CDHR2 54825 broad.mit.edu 36 5 175945614 175945614 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 175945614 175945614 C T SNP PCDH24 NM_017675 human genbank 54_36p 1 reviewed missense c.2788 p.P930S 0.08 superfamily_Cadherin "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors GPRIN1 114787 broad.mit.edu 36 5 175957797 175957797 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175957797 175957797 C A SNP GPRIN1 NM_052899 human genbank 54_36p -1 validated missense c.1645 p.G549C 0 NULL NULL - no_errors GPRIN1 114787 broad.mit.edu 36 5 175959196 175959196 + Silent SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 175959196 175959196 G T SNP GPRIN1 NM_052899 human genbank 54_36p -1 validated silent c.246 p.S82 1 NULL NULL - no_errors UNC5A 90249 broad.mit.edu 36 5 176234015 176234015 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 176234015 176234015 G A SNP UNC5A NM_133369 human genbank 54_36p 1 validated missense c.1220 p.R407H 1 NULL "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors HK3 3101 broad.mit.edu 36 5 176249112 176249112 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 5 176249112 176249112 C T SNP HK3 NM_002115 human genbank 54_36p -1 reviewed missense c.790 p.D264N 1 "HMMPfam_Hexokinase_2,superfamily_SSF53067" "superfamily_SSF53067,HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" - no_errors FGFR4 2264 broad.mit.edu 36 5 176455898 176455898 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 176455898 176455898 G A SNP FGFR4 NM_002011 human genbank 54_36p 1 reviewed missense c.1949 p.R650H 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors NSD1 64324 broad.mit.edu 36 5 176654234 176654234 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 5 176654234 176654234 C G SNP NSD1 NM_022455 human genbank 54_36p 1 reviewed missense c.7259 p.P2420R 1 NULL "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508" - no_errors GRK6 2870 broad.mit.edu 36 5 176790490 176790490 + Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 176790490 176790490 A T SNP GRK6 NM_002082 human genbank 54_36p 1 reviewed missense c.64 p.N22Y 1 NULL "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X" - no_errors PDLIM7 9260 broad.mit.edu 36 5 176843490 176843490 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 176843490 176843490 G C SNP PDLIM7 NM_005451 human genbank 54_36p -1 reviewed missense c.1271 p.T424S 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1" - no_errors DDX41 51428 broad.mit.edu 36 5 176875735 176875735 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 176875735 176875735 C T SNP DDX41 NM_016222 human genbank 54_36p -1 reviewed missense c.364 p.E122K 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_zf-CCHC" - no_errors RMND5B 64777 broad.mit.edu 36 5 177503619 177503619 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 177503619 177503619 C G SNP RMND5B NM_022762 human genbank 54_36p 1 provisional missense c.598 p.H200D 1 HMMSmart_SM00668 "HMMSmart_SM00667,HMMSmart_SM00668,HMMSmart_SM00757,superfamily_RING/U-box" - no_errors NHP2 55651 broad.mit.edu 36 5 177509382 177509382 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 177509382 177509382 C T SNP NHP2 NM_017838 human genbank 54_36p -1 reviewed missense c.400 p.E134K 1 "superfamily_SSF55315,HMMPfam_Ribosomal_L7Ae" "PatternScan_RIBOSOMAL_L7AE,superfamily_SSF55315,HMMPfam_Ribosomal_L7Ae" - no_errors NHP2 55651 broad.mit.edu 36 5 177509445 177509445 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 177509445 177509445 C T SNP NHP2 NM_017838 human genbank 54_36p -1 reviewed missense c.337 p.D113N 1 "HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315" "PatternScan_RIBOSOMAL_L7AE,HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315" - no_errors COL23A1 91522 broad.mit.edu 36 5 177601947 177601947 + Splice_Site SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 177601947 177601947 C A SNP COL23A1 NM_173465 human genbank 54_36p -1 validated splice_site c.1494+1 e26+1 1 - - - no_errors CLK4 57396 broad.mit.edu 36 5 177983020 177983020 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 177983020 177983020 G A SNP CLK4 NM_020666 human genbank 54_36p -1 reviewed missense c.4 p.R2W 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ZNF354B 117608 broad.mit.edu 36 5 178243672 178243672 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 178243672 178243672 T A SNP ZNF354B NM_058230 human genbank 54_36p 1 validated missense c.1613 p.I538K 0.03 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GRM6 2916 broad.mit.edu 36 5 178346144 178346144 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 178346144 178346144 G A SNP GRM6 NM_000843 human genbank 54_36p -1 reviewed missense c.1717 p.P573S 1 NULL "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GRM6 2916 broad.mit.edu 36 5 178346490 178346490 + Silent SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 178346490 178346490 G A SNP GRM6 NM_000843 human genbank 54_36p -1 reviewed silent c.1455 p.G485 0.98 superfamily_SSF53822 "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822" - no_errors RUFY1 80230 broad.mit.edu 36 5 178945450 178945450 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 178945450 178945450 C G SNP RUFY1 NM_025158 human genbank 54_36p 1 validated missense c.1004 p.T335S 1 NULL "HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_RUN,HMMSmart_SM00593,superfamily_FYVE/PHD zinc finger" - no_errors MGAT4B 11282 broad.mit.edu 36 5 179161231 179161231 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 179161231 179161231 T G SNP MGAT4B NM_054013 human genbank 54_36p -1 reviewed missense c.398 p.H133P 1 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors SQSTM1 8878 broad.mit.edu 36 5 179183612 179183612 + Silent SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 179183612 179183612 G A SNP SQSTM1 NM_003900 human genbank 54_36p 1 reviewed silent c.450 p.L150 1 "HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" "HMMSmart_SM00666,HMMPfam_PB1,superfamily_CAD PB1 domains,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1,superfamily_UBA-like,HMMSmart_SM00165" - no_errors C5orf45 51149 broad.mit.edu 36 5 179197288 179197288 + Silent SNP T T A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 179197288 179197288 T A SNP C5orf45 NM_016175 human genbank 54_36p -1 validated silent c.741 p.P247 0 NULL NULL - no_errors GFPT2 9945 broad.mit.edu 36 5 179696183 179696183 + Frame_Shift_Del DEL C - C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 5 179696183 179696183 C - DEL GFPT2 NM_005110 human genbank 54_36p -1 provisional frame_shift_del c.116 p.G39fs 1 "HMMPfam_GATase_2,superfamily_SSF56235" "HMMPfam_GATase_2,superfamily_SSF56235,superfamily_SSF53697,HMMPfam_SIS" "(deletion:cds_exon[179696085,179696183])" no_errors FLT4 2324 broad.mit.edu 36 5 179981457 179981457 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 179981457 179981457 C T SNP FLT4 NM_182925 human genbank 54_36p -1 reviewed missense c.1711 p.G571S 1 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408" ############################################################################################################################################################################################################################################################### - no_errors FLT4 2324 broad.mit.edu 36 5 179985805 179985806 + Missense_Mutation DNP TG TG CT novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 179985805 179985806 TG CT DNP FLT4 NM_182925 human genbank 54_36p -1 reviewed missense c.1170_1169 p.T390K 0.959:0.985 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors FLT4 2324 broad.mit.edu 36 5 179991349 179991349 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 179991349 179991349 A T SNP FLT4 NM_182925 human genbank 54_36p -1 reviewed missense c.94 p.L32M 1 superfamily_Immunoglobulin ############################################################################################################################################################################################################################################################### - no_errors MGAT1 4245 broad.mit.edu 36 5 180151898 180151898 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 180151898 180151898 G A SNP MGAT1 NM_002406 human genbank 54_36p -1 reviewed missense c.680 p.P227L 0.99 "HMMPfam_GNT-I,superfamily_SSF53448" "HMMPfam_GNT-I,superfamily_SSF53448" - no_errors BTNL9 153579 broad.mit.edu 36 5 180419230 180419230 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 180419230 180419230 C T SNP BTNL9 NM_152547 human genbank 54_36p 1 validated missense c.1370 p.A457V 0.57 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors TRIM7 81786 broad.mit.edu 36 5 180559616 180559616 + Silent SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 180559616 180559616 C T SNP TRIM7 NM_203293 human genbank 54_36p -1 reviewed silent c.690 p.Q230 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors IRF4 3662 broad.mit.edu 36 6 339886 339887 + Missense_Mutation DNP GA GA TC novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 339886 339887 GA TC DNP IRF4 NM_002460 human genbank 54_36p 1 validated missense c.282_283 p.KT94NP 1.000:1.000 "HMMSmart_SM00348,superfamily_Winged helix DNA-binding domain,HMMPfam_IRF" "HMMSmart_SM00348,superfamily_Winged helix DNA-binding domain,HMMPfam_IRF,PatternScan_IRF,superfamily_SMAD/FHA domain,HMMPfam_IRF-3" - no_errors EXOC2 55770 broad.mit.edu 36 6 498866 498866 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 498866 498866 G A SNP EXOC2 NM_018303 human genbank 54_36p -1 reviewed silent c.2109 p.F703 1 NULL "superfamily_Ig_E-set,HMMPfam_TIG" - no_errors EXOC2 55770 broad.mit.edu 36 6 517577 517577 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 517577 517577 C A SNP EXOC2 NM_018303 human genbank 54_36p -1 reviewed missense c.1386 p.Q462H 1 NULL "HMMPfam_TIG,superfamily_Ig_E-set" - no_errors FOXC1 2296 broad.mit.edu 36 6 1556120 1556120 + Silent SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 1556120 1556120 C T SNP FOXC1 NM_001453 human genbank 54_36p 1 reviewed silent c.441 p.G147 1 "HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head" "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors MYLK4 340156 broad.mit.edu 36 6 2616580 2616580 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 2616580 2616580 T C SNP MYLK4 NM_001012418 human genbank 54_36p -1 validated missense c.1121 p.K374R 0.95 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MYLK4 340156 broad.mit.edu 36 6 2634129 2634129 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 2634129 2634129 G A SNP MYLK4 NM_001012418 human genbank 54_36p -1 validated missense c.296 p.A99V 0.04 superfamily_Protein kinase-like (PK-like) "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors WRNIP1 56897 broad.mit.edu 36 6 2730292 2730292 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 2730292 2730292 A T SNP WRNIP1 NM_020135 human genbank 54_36p 1 reviewed missense c.1775 p.E592V 1 NULL "HMMSmart_SM00734,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" - no_errors SERPINB1 1992 broad.mit.edu 36 6 2779179 2779179 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 2779179 2779179 C T SNP SERPINB1 NM_030666 human genbank 54_36p -1 provisional missense c.802 p.E268K 0.93 "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN" "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors SLC22A23 63027 broad.mit.edu 36 6 3218558 3218558 + Silent SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 3218558 3218558 G A SNP SLC22A23 NM_021945 human genbank 54_36p -1 validated silent c.948 p.Y316 1 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors RREB1 6239 broad.mit.edu 36 6 7127296 7127296 + Silent SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 7127296 7127296 G C SNP RREB1 NM_001003699 human genbank 54_36p 1 validated silent c.153 p.R51 1 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors RREB1 6239 broad.mit.edu 36 6 7185714 7185714 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 7185714 7185714 A G SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.3853 p.T1285A 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors CAGE1 285782 broad.mit.edu 36 6 7318685 7318685 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 7318685 7318685 G A SNP CAGE1 NM_205864 human genbank 54_36p -1 validated nonsense c.958 p.Q320* 0.28 NULL NULL - no_errors RIOK1 83732 broad.mit.edu 36 6 7340356 7340356 + Silent SNP T T C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 7340356 7340356 T C SNP RIOK1 NM_031480 human genbank 54_36p 1 reviewed silent c.348 p.F116 1 NULL "HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1,PatternScan_RIO1" - no_errors DSP 1832 broad.mit.edu 36 6 7520670 7520670 + Silent SNP C C T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 7520670 7520670 C T SNP DSP NM_004415 human genbank 54_36p 1 reviewed silent c.2580 p.V860 0.53 superfamily_Spectrin repeat "superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" - no_errors DSP 1832 broad.mit.edu 36 6 7523100 7523100 + Silent SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 7523100 7523100 T C SNP DSP NM_004415 human genbank 54_36p 1 reviewed silent c.2967 p.S989 0.99 "HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Prefoldin,superfamily_tRNA-binding arm,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat" - no_errors BMP6 654 broad.mit.edu 36 6 7790411 7790411 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 7790411 7790411 A G SNP BMP6 NM_001718 human genbank 54_36p 1 reviewed missense c.704 p.H235R 1 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors GCNT2 2651 broad.mit.edu 36 6 10664686 10664686 + Missense_Mutation SNP G G A rs55786982 Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 10664686 10664686 G A SNP GCNT2 NM_001491 human genbank 54_36p 1 reviewed missense c.44 p.S15N 0.01 NULL HMMPfam_Branch - no_errors GCM2 9247 broad.mit.edu 36 6 10982436 10982436 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 10982436 10982436 C T SNP GCM2 NM_004752 human genbank 54_36p -1 reviewed silent c.1299 p.P433 0 NULL "superfamily_GCM_motif,HMMPfam_GCM" - no_errors GCM2 9247 broad.mit.edu 36 6 10983140 10983140 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 10983140 10983140 G C SNP GCM2 NM_004752 human genbank 54_36p -1 reviewed missense c.595 p.Q199E 0.46 NULL "HMMPfam_GCM,superfamily_GCM_motif" - no_errors HERV-FRD 405754 broad.mit.edu 36 6 11213451 11213451 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 11213451 11213451 T C SNP HERV-FRD NM_207582 human genbank 54_36p -1 provisional missense c.79 p.K27E 0 NULL HMMPfam_TLV_coat - no_errors HIVEP1 3096 broad.mit.edu 36 6 12232945 12232945 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 12232945 12232945 T A SNP HIVEP1 NM_002114 human genbank 54_36p 1 validated missense c.4931 p.V1644D 0 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GFOD1 54438 broad.mit.edu 36 6 13473240 13473240 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 13473240 13473240 C T SNP GFOD1 NM_018988 human genbank 54_36p -1 provisional missense c.887 p.S296N 1 NULL "HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_GFO_IDH_MocA_C" - no_errors GFOD1 54438 broad.mit.edu 36 6 13473721 13473721 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 13473721 13473721 C T SNP GFOD1 NM_018988 human genbank 54_36p -1 provisional missense c.406 p.E136K 1 "HMMPfam_GFO_IDH_MocA_C,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain" "HMMPfam_GFO_IDH_MocA,HMMPfam_GFO_IDH_MocA_C,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain" - no_errors CD83 9308 broad.mit.edu 36 6 14239789 14239789 + Silent SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 14239789 14239789 G A SNP CD83 NM_004233 human genbank 54_36p 1 validated silent c.213 p.Q71 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors JARID2 3720 broad.mit.edu 36 6 15620422 15620422 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 15620422 15620422 C A SNP JARID2 NM_004973 human genbank 54_36p 1 reviewed missense c.2957 p.S986Y 1 "HMMSmart_SM00558,HMMPfam_JmjC" "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2" - no_errors MYLIP 29116 broad.mit.edu 36 6 16251255 16251255 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 16251255 16251255 G A SNP MYLIP NM_013262 human genbank 54_36p 1 reviewed missense c.490 p.E164K 1 "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" "superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,superfamily_RING/U-box,HMMPfam_zf-C3HC4" - no_errors GMPR 2766 broad.mit.edu 36 6 16398676 16398676 + Silent SNP T T A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 16398676 16398676 T A SNP GMPR NM_006877 human genbank 54_36p 1 validated silent c.702 p.A234 0.99 "superfamily_SSF51412,HMMPfam_IMPDH" "superfamily_SSF51412,HMMPfam_IMPDH,PatternScan_IMP_DH_GMP_RED" - no_errors NUP153 9972 broad.mit.edu 36 6 17745743 17745743 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 17745743 17745743 G C SNP NUP153 NM_005124 human genbank 54_36p -1 reviewed missense c.2084 p.T695S 0.6 NULL "HMMPfam_Nup153,HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,HMMPfam_Nup_retrotrp_bd" - no_errors CDKAL1 54901 broad.mit.edu 36 6 21173343 21173343 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 21173343 21173343 G C SNP CDKAL1 NM_017774 human genbank 54_36p 1 validated missense c.1141 p.V381L 1 "superfamily_Radical SAM enzymes,HMMSmart_SM00729,HMMPfam_Radical_SAM" "HMMPfam_UPF0004,superfamily_Radical SAM enzymes,HMMSmart_SM00729,PatternScan_UPF0004,HMMPfam_Radical_SAM,HMMPfam_TRAM" - no_errors DCDC2 51473 broad.mit.edu 36 6 24465686 24465686 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 24465686 24465686 T C SNP DCDC2 NM_016356 human genbank 54_36p -1 reviewed missense c.272 p.Q91R 1 "superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX" "superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX" - no_errors GMNN 51053 broad.mit.edu 36 6 24892316 24892316 + Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 24892316 24892316 G T SNP GMNN NM_015895 human genbank 54_36p 1 validated missense c.297 p.W99C 1 HMMPfam_Geminin HMMPfam_Geminin - no_errors FAM65B 9750 broad.mit.edu 36 6 24977332 24977332 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 24977332 24977332 T A SNP FAM65B NM_015864 human genbank 54_36p -1 validated missense c.383 p.Y128F 1 NULL NULL - no_errors LRRC16A 55604 broad.mit.edu 36 6 25625596 25625596 + Silent SNP T T C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 25625596 25625596 T C SNP LRRC16A NM_017640 human genbank 54_36p 1 validated silent c.1848 p.F616 1 superfamily_SSF52047 superfamily_SSF52047 - no_errors SLC17A1 6568 broad.mit.edu 36 6 25919879 25919879 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 6 25919879 25919879 G T SNP SLC17A1 NM_005074 human genbank 54_36p -1 validated missense c.996 p.S332R 0.02 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC17A1 6568 broad.mit.edu 36 6 25934811 25934811 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 25934811 25934811 A T SNP SLC17A1 NM_005074 human genbank 54_36p -1 validated missense c.64 p.L22M 0 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC17A2 10246 broad.mit.edu 36 6 26024944 26024944 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26024944 26024944 A C SNP SLC17A2 NM_005835 human genbank 54_36p -1 provisional missense c.878 p.L293R 0.99 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors HIST1H1A 3024 broad.mit.edu 36 6 26125435 26125435 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 26125435 26125435 G C SNP HIST1H1A NM_005325 human genbank 54_36p -1 reviewed missense c.505 p.P169A 1 NULL "HMMSmart_H15,superfamily_SSF46785,HMMPfam_Linker_histone" - no_errors HIST1H1A 3024 broad.mit.edu 36 6 26125656 26125656 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 26125656 26125656 G C SNP HIST1H1A NM_005325 human genbank 54_36p -1 reviewed missense c.284 p.T95R 1 "HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785" "HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785" - no_errors HIST1H1A 3024 broad.mit.edu 36 6 26125728 26125728 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 26125728 26125728 G A SNP HIST1H1A NM_005325 human genbank 54_36p -1 reviewed missense c.212 p.A71V 1 "HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785" "HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785" - no_errors HIST1H3B 8358 broad.mit.edu 36 6 26139918 26139918 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26139918 26139918 C T SNP HIST1H3B NM_003537 human genbank 54_36p -1 reviewed missense c.350 p.R117Q 1 "superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H3C 8352 broad.mit.edu 36 6 26153624 26153624 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26153624 26153624 C G SNP HIST1H3C NM_003531 human genbank 54_36p 1 reviewed missense c.7 p.R3G 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H1C 3006 broad.mit.edu 36 6 26164309 26164309 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 26164309 26164309 C G SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed missense c.327 p.K109N 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_Linker_histone" "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,HMMPfam_Linker_histone" - no_errors HFE 3077 broad.mit.edu 36 6 26199585 26199585 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 26199585 26199585 C A SNP HFE NM_000410 human genbank 54_36p 1 reviewed nonsense c.405 p.Y135* 0.55 "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain" "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMSmart_SM00407,HMMPfam_C1-set,PatternScan_IG_MHC" - no_errors HIST1H1T 3010 broad.mit.edu 36 6 26215966 26215966 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26215966 26215966 C G SNP HIST1H1T NM_005323 human genbank 54_36p -1 reviewed missense c.335 p.S112T 1 "superfamily_SSF46785,HMMPfam_Linker_histone" "superfamily_SSF46785,HMMSmart_H15,HMMPfam_Linker_histone" - no_errors HIST1H1E 3008 broad.mit.edu 36 6 26264769 26264769 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26264769 26264769 T C SNP HIST1H1E NM_005321 human genbank 54_36p 1 reviewed missense c.172 p.S58P 1 "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00526,HMMPfam_Linker_histone" "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00526,HMMPfam_Linker_histone" - no_errors HIST1H1E 3008 broad.mit.edu 36 6 26265248 26265248 + Silent SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 26265248 26265248 G A SNP HIST1H1E NM_005321 human genbank 54_36p 1 reviewed silent c.651 p.K217 1 NULL "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain" - no_errors HIST1H2BD 3017 broad.mit.edu 36 6 26266441 26266441 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 26266441 26266441 C G SNP HIST1H2BD NM_021063 human genbank 54_36p 1 reviewed missense c.65 p.A22G 1 superfamily_Histone-fold "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H4E 8367 broad.mit.edu 36 6 26313087 26313087 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 26313087 26313087 G A SNP HIST1H4E NM_003545 human genbank 54_36p 1 reviewed missense c.236 p.R79H 1 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HIST1H2AE 3012 broad.mit.edu 36 6 26325293 26325293 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26325293 26325293 G A SNP HIST1H2AE NM_021052 human genbank 54_36p 1 reviewed missense c.112 p.G38S 1 "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone" "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors HIST1H2BH 8345 broad.mit.edu 36 6 26359862 26359862 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26359862 26359862 C T SNP HIST1H2BH NM_003524 human genbank 54_36p 1 reviewed missense c.5 p.P2L 1 NULL "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H2BH 8345 broad.mit.edu 36 6 26360040 26360040 + Silent SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26360040 26360040 G C SNP HIST1H2BH NM_003524 human genbank 54_36p 1 reviewed silent c.183 p.G61 1 "HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold" "HMMSmart_SM00427,PatternScan_HISTONE_H2B,HMMPfam_Histone,superfamily_Histone-fold" - no_errors HIST1H3G 8355 broad.mit.edu 36 6 26379451 26379451 + Silent SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 26379451 26379451 C T SNP HIST1H3G NM_003534 human genbank 54_36p -1 reviewed silent c.141 p.V47 1 "superfamily_Histone-fold,HMMSmart_SM00428" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors BTN3A1 11119 broad.mit.edu 36 6 26514145 26514145 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26514145 26514145 C T SNP BTN3A1 NM_007048 human genbank 54_36p 1 validated missense c.115 p.P39S 0.01 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors BTN2A1 11120 broad.mit.edu 36 6 26567866 26567866 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 26567866 26567866 G C SNP BTN2A1 NM_007049 human genbank 54_36p 1 reviewed missense c.261 p.E87D 1 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors HIST1H2BJ 8970 broad.mit.edu 36 6 27208431 27208431 + Silent SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 27208431 27208431 G A SNP HIST1H2BJ NM_021058 human genbank 54_36p -1 reviewed silent c.78 p.D26 1 superfamily_Histone-fold "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST1H2BK 85236 broad.mit.edu 36 6 27222467 27222467 + Silent SNP G G A rs12207760 Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 27222467 27222467 G A SNP HIST1H2BK NM_080593 human genbank 54_36p -1 reviewed silent c.90 p.R30 1 "superfamily_Histone-fold,HMMSmart_SM00427" "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors PRSS16 10279 broad.mit.edu 36 6 27330600 27330600 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 27330600 27330600 C G SNP PRSS16 NM_005865 human genbank 54_36p 1 reviewed missense c.1300 p.P434A 0.4 "HMMPfam_Peptidase_S28,superfamily_SSF53474" "HMMPfam_Peptidase_S28,superfamily_SSF53474" - no_errors ZNF184 7738 broad.mit.edu 36 6 27527992 27527992 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 27527992 27527992 C G SNP ZNF184 NM_007149 human genbank 54_36p -1 validated missense c.1325 p.G442A 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors HIST1H4K 8362 broad.mit.edu 36 6 27907087 27907087 + Silent SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 27907087 27907087 C T SNP HIST1H4K NM_003541 human genbank 54_36p -1 reviewed silent c.198 p.V66 1 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors HIST1H3I 8354 broad.mit.edu 36 6 27947775 27947775 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 27947775 27947775 A G SNP HIST1H3I NM_003533 human genbank 54_36p -1 reviewed missense c.298 p.Y100H 1 "superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone" "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H3J 8356 broad.mit.edu 36 6 27966523 27966523 + Silent SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 27966523 27966523 G C SNP HIST1H3J NM_003535 human genbank 54_36p -1 reviewed silent c.27 p.R9 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors HIST1H2AM 8336 broad.mit.edu 36 6 27968886 27968886 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 27968886 27968886 C G SNP HIST1H2AM NM_003514 human genbank 54_36p -1 reviewed missense c.21 p.Q7H 0.99 "superfamily_Histone-fold,HMMSmart_SM00414" "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors ZKSCAN4 387032 broad.mit.edu 36 6 28320943 28320943 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 28320943 28320943 C G SNP ZKSCAN4 NM_019110 human genbank 54_36p -1 provisional missense c.1568 p.G523A 0.99 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF187 7741 broad.mit.edu 36 6 28351974 28351974 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 28351974 28351974 G A SNP ZNF187 NM_001023560 human genbank 54_36p 1 validated missense c.100 p.G34R 0.02 NULL "superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PGBD1 84547 broad.mit.edu 36 6 28372645 28372645 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 28372645 28372645 G A SNP PGBD1 NM_032507 human genbank 54_36p 1 reviewed missense c.716 p.R239Q 0.27 NULL "HMMPfam_SCAN,HMMSmart_SCAN" - no_errors GPX6 257202 broad.mit.edu 36 6 28591423 28591423 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 28591423 28591423 T G SNP GPX6 NM_182701 human genbank 54_36p -1 reviewed missense c.77 p.Q26P 0 NULL "superfamily_Thioredoxin-like,HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2" - pseudogene SCAND3 114821 broad.mit.edu 36 6 28649330 28649330 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 28649330 28649330 T A SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional missense c.2315 p.K772I 1 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC" - no_errors SCAND3 114821 broad.mit.edu 36 6 28662466 28662466 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 28662466 28662466 G A SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional missense c.8 p.A3V 0 NULL "HMMPfam_rve,HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_hATC,superfamily_RNaseH_fold" - no_errors TRIM27 5987 broad.mit.edu 36 6 28980344 28980344 + Frame_Shift_Del DEL A - A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 28980344 28980344 A - DEL TRIM27 NM_006510 human genbank 54_36p -1 reviewed frame_shift_del c.1024 p.Y342fs 0.04 HMMSmart_SM00589 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" "(deletion:cds_exon[28979826,28980421])" no_errors OR2W1 26692 broad.mit.edu 36 6 29120568 29120568 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29120568 29120568 G T SNP OR2W1 NM_030903 human genbank 54_36p -1 validated missense c.364 p.R122S 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR14J1 442191 broad.mit.edu 36 6 29382964 29382964 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29382964 29382964 C A SNP OR14J1 NM_030946 human genbank 54_36p 1 provisional missense c.519 p.H173Q 0.22 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5V1 81696 broad.mit.edu 36 6 29431065 29431065 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 29431065 29431065 T C SNP OR5V1 NM_030876 human genbank 54_36p -1 validated missense c.887 p.D296G 0.91 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5V1 81696 broad.mit.edu 36 6 29431170 29431170 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29431170 29431170 C T SNP OR5V1 NM_030876 human genbank 54_36p -1 validated missense c.782 p.R261Q 0.04 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR12D3 81797 broad.mit.edu 36 6 29450706 29450706 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29450706 29450706 A T SNP OR12D3 NM_030959 human genbank 54_36p -1 provisional missense c.338 p.L113Q 0.01 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10C1 442194 broad.mit.edu 36 6 29516691 29516691 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 29516691 29516691 C T SNP OR10C1 NM_013941 human genbank 54_36p 1 provisional missense c.920 p.T307M 0.03 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MAS1L 116511 broad.mit.edu 36 6 29562653 29562653 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29562653 29562653 C T SNP MAS1L NM_052967 human genbank 54_36p -1 provisional missense c.1006 p.A336T 0.01 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MAS1L 116511 broad.mit.edu 36 6 29562786 29562786 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29562786 29562786 C T SNP MAS1L NM_052967 human genbank 54_36p -1 provisional missense c.873 p.M291I 0 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MAS1L 116511 broad.mit.edu 36 6 29563268 29563268 + Silent SNP A A G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29563268 29563268 A G SNP MAS1L NM_052967 human genbank 54_36p -1 provisional silent c.391 p.L131 0.01 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors GABBR1 2550 broad.mit.edu 36 6 29697532 29697532 + Silent SNP A A G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29697532 29697532 A G SNP GABBR1 NM_001470 human genbank 54_36p -1 reviewed silent c.1107 p.T369 0.97 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_7tm_3" - no_errors GABBR1 2550 broad.mit.edu 36 6 29697547 29697547 + Silent SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29697547 29697547 T A SNP GABBR1 NM_001470 human genbank 54_36p -1 reviewed silent c.1092 p.G364 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_ANF_receptor,superfamily_Complement control module/SCR domain,HMMPfam_7tm_3,superfamily_Periplasmic binding protein-like I" - no_errors GABBR1 2550 broad.mit.edu 36 6 29706244 29706244 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29706244 29706244 G A SNP GABBR1 NM_001470 human genbank 54_36p -1 reviewed nonsense c.445 p.Q149* 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_ANF_receptor,superfamily_Complement control module/SCR domain,HMMPfam_7tm_3,superfamily_Periplasmic binding protein-like I" - no_errors ZFP57 346171 broad.mit.edu 36 6 29748583 29748583 + Silent SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29748583 29748583 G A SNP ZFP57 NM_001109809 human genbank 54_36p -1 inferred silent c.1224 p.V408 0.04 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFP57 346171 broad.mit.edu 36 6 29748981 29748981 + Silent SNP T T G novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29748981 29748981 T G SNP ZFP57 NM_001109809 human genbank 54_36p -1 inferred silent c.826 p.R276 0.09 NULL "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZFP57 346171 broad.mit.edu 36 6 29749153 29749153 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 29749153 29749153 C G SNP ZFP57 NM_001109809 human genbank 54_36p -1 inferred missense c.654 p.K218N 0.75 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors HLA-G 3135 broad.mit.edu 36 6 29905575 29905575 + Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 29905575 29905575 A C SNP HLA-G NM_002127 human genbank 54_36p 1 reviewed missense c.899 p.Q300P 0 superfamily_Immunoglobulin "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors TRIM10 10107 broad.mit.edu 36 6 30229753 30229753 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30229753 30229753 C T SNP TRIM10 NM_006778 human genbank 54_36p -1 validated missense c.1418 p.R473Q 0.03 "HMMSmart_SM00449,HMMPfam_SPRY" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMSmart_SM00449,HMMPfam_SPRY" - no_errors TRIM10 10107 broad.mit.edu 36 6 30236491 30236491 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30236491 30236491 G A SNP TRIM10 NM_006778 human genbank 54_36p -1 validated missense c.124 p.R42C 0.02 "HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box" "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,HMMPfam_SPRY,HMMSmart_SM00589,PatternScan_ZF_RING_1,HMMSmart_SM00449,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors TRIM26 7726 broad.mit.edu 36 6 30272364 30272364 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30272364 30272364 T G SNP TRIM26 NM_003449 human genbank 54_36p -1 validated missense c.673 p.K225Q 0 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors RPP21 79897 broad.mit.edu 36 6 30422273 30422273 + Silent SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30422273 30422273 C A SNP RPP21 NM_024839 human genbank 54_36p 1 provisional silent c.327 p.L109 1 NULL HMMPfam_Rpr2 - no_errors HLA-E 3133 broad.mit.edu 36 6 30565660 30565660 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30565660 30565660 G T SNP HLA-E NM_005516 human genbank 54_36p 1 reviewed missense c.243 p.W81C 0.99 "HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog" "HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,HMMPfam_C1-set,superfamily_SSF48726,HMMSmart_IGc1,PatternScan_IG_MHC" - no_errors HLA-E 3133 broad.mit.edu 36 6 30565666 30565666 + Silent SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30565666 30565666 G A SNP HLA-E NM_005516 human genbank 54_36p 1 reviewed silent c.249 p.R83 0.04 "HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog" "HMMPfam_MHC_I,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726" - no_errors HLA-E 3133 broad.mit.edu 36 6 30568322 30568322 + Silent SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30568322 30568322 G A SNP HLA-E NM_005516 human genbank 54_36p 1 reviewed silent c.1062 p.E354 0.74 NULL "HMMPfam_MHC_I,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726" - no_errors GNL1 2794 broad.mit.edu 36 6 30621999 30621999 + Silent SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30621999 30621999 G A SNP GNL1 NM_005275 human genbank 54_36p -1 reviewed silent c.1653 p.D551 0.79 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1" - no_errors GNL1 2794 broad.mit.edu 36 6 30622910 30622910 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30622910 30622910 G A SNP GNL1 NM_005275 human genbank 54_36p -1 reviewed missense c.1399 p.P467S 0.89 NULL "HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GNL1 2794 broad.mit.edu 36 6 30629164 30629164 + Silent SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30629164 30629164 G A SNP GNL1 NM_005275 human genbank 54_36p -1 reviewed silent c.750 p.H250 0.89 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GNL1 2794 broad.mit.edu 36 6 30629215 30629215 + Silent SNP A A G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30629215 30629215 A G SNP GNL1 NM_005275 human genbank 54_36p -1 reviewed silent c.699 p.A233 0.97 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PRR3 80742 broad.mit.edu 36 6 30638222 30638222 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 30638222 30638222 C G SNP PRR3 NM_025263 human genbank 54_36p 1 validated missense c.538 p.H180D 1 "HMMPfam_zf-CCCH,HMMSmart_SM00356" "HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors ABCF1 23 broad.mit.edu 36 6 30658158 30658172 + In_Frame_Del DEL GGAAGAAGGAGAAGG - GGAAGAAGGAGAAGG novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W GGAAGAAGGAGAAGG GGAAGAAGGAGAAGG - - GGAAGAAGGAGAAGG GGAAGAAGGAGAAGG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 30658158 30658172 GGAAGAAGGAGAAGG - DEL ABCF1 NM_001025091 human genbank 54_36p 1 reviewed in_frame_del c.687_701 p.GEGEE232in_frame_del 1.000:0.998:0.987:0.920:0.883:0.805:0.766:0.738:0.719:0.712:0.759:0.765:0.772:0.762:0.359 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" "(deletion:cds_exon[30658150,30658263])" no_errors PPP1R10 5514 broad.mit.edu 36 6 30680387 30680387 + Silent SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 30680387 30680387 G A SNP PPP1R10 NM_002714 human genbank 54_36p -1 reviewed silent c.1059 p.G353 0.98 NULL "HMMSmart_SM00509,HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors MRPS18B 28973 broad.mit.edu 36 6 30698627 30698627 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30698627 30698627 G T SNP MRPS18B NM_014046 human genbank 54_36p 1 reviewed missense c.394 p.G132C 1 "superfamily_Ribosomal protein S18,HMMPfam_Ribosomal_S18" "superfamily_Ribosomal protein S18,HMMPfam_Ribosomal_S18" - no_errors MRPS18B 28973 broad.mit.edu 36 6 30700663 30700663 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30700663 30700663 G A SNP MRPS18B NM_014046 human genbank 54_36p 1 reviewed missense c.446 p.R149Q 0.99 "HMMPfam_Ribosomal_S18,superfamily_Ribosomal protein S18" "HMMPfam_Ribosomal_S18,superfamily_Ribosomal protein S18" - no_errors C6orf136 221545 broad.mit.edu 36 6 30728588 30728588 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30728588 30728588 G A SNP C6orf136 NM_001109938 human genbank 54_36p 1 validated missense c.865 p.V289M 0.95 NULL HMMPfam_DUF2358 - no_errors DHX16 8449 broad.mit.edu 36 6 30740925 30740925 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 30740925 30740925 C T SNP DHX16 NM_003587 human genbank 54_36p -1 reviewed missense c.1027 p.A343T 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors DHX16 8449 broad.mit.edu 36 6 30741282 30741282 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30741282 30741282 G T SNP DHX16 NM_003587 human genbank 54_36p -1 reviewed missense c.874 p.L292M 1 NULL "HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DHX16 8449 broad.mit.edu 36 6 30741394 30741394 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30741394 30741394 C A SNP DHX16 NM_003587 human genbank 54_36p -1 reviewed missense c.762 p.E254D 1 NULL "HMMPfam_Helicase_C,HMMSmart_SM00490,PatternScan_DEAH_ATP_HELICASE,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MDC1 9656 broad.mit.edu 36 6 30779975 30779975 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 30779975 30779975 G C SNP MDC1 NM_014641 human genbank 54_36p -1 reviewed missense c.4964 p.P1655R 0 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_BRCT domain,HMMPfam_BRCT" - no_errors GTF2H4 2968 broad.mit.edu 36 6 30988154 30988154 + Silent SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30988154 30988154 G T SNP GTF2H4 NM_001517 human genbank 54_36p 1 validated silent c.1029 p.V343 1 HMMPfam_Tfb2 HMMPfam_Tfb2 - no_errors VARS2 57176 broad.mit.edu 36 6 30998902 30998902 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 30998902 30998902 G A SNP VARS2 NM_020442 human genbank 54_36p 1 provisional missense c.2228 p.R743Q 0.97 superfamily_Nucleotidylyl transferase "PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase" - no_errors VARS2 57176 broad.mit.edu 36 6 30998935 30998935 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 30998935 30998935 G T SNP VARS2 NM_020442 human genbank 54_36p 1 provisional missense c.2261 p.R754L 0.99 superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases "PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase" - no_errors MUC21 394263 broad.mit.edu 36 6 31059720 31059720 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 31059720 31059720 G A SNP MUC21 NM_001010909 human genbank 54_36p 1 validated silent c.6 p.K2 0.52 NULL NULL - no_errors MUC21 394263 broad.mit.edu 36 6 31062239 31062239 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31062239 31062239 G A SNP MUC21 NM_001010909 human genbank 54_36p 1 validated missense c.308 p.S103N 0.79 NULL NULL - no_errors MUC21 394263 broad.mit.edu 36 6 31062412 31062412 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 31062412 31062412 G A SNP MUC21 NM_001010909 human genbank 54_36p 1 validated missense c.481 p.E161K 0 NULL NULL - no_errors PSORS1C2 170680 broad.mit.edu 36 6 31213944 31213944 + Silent SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 31213944 31213944 G C SNP PSORS1C2 NM_014069 human genbank 54_36p -1 validated silent c.174 p.P58 1 NULL NULL - no_errors BAT1 7919 broad.mit.edu 36 6 31606559 31606559 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31606559 31606559 C G SNP BAT1 NM_004640 human genbank 54_36p -1 reviewed missense c.1246 p.D416H 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors BAT1 7919 broad.mit.edu 36 6 31616213 31616213 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31616213 31616213 C T SNP BAT1 NM_004640 human genbank 54_36p -1 reviewed missense c.76 p.G26R 0.98 NULL "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AIF1 199 broad.mit.edu 36 6 31692100 31692100 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31692100 31692100 A T SNP AIF1 NM_001623 human genbank 54_36p 1 reviewed missense c.197 p.D66V 1 superfamily_EF-hand superfamily_EF-hand - no_errors BAT2 7916 broad.mit.edu 36 6 31703919 31703919 + Silent SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31703919 31703919 G T SNP BAT2 NM_080686 human genbank 54_36p 1 reviewed silent c.1689 p.V563 0.48 NULL HMMPfam_BAT2_N - no_errors BAT2 7916 broad.mit.edu 36 6 31711457 31711457 + Silent SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 31711457 31711457 C T SNP BAT2 NM_080686 human genbank 54_36p 1 reviewed silent c.5493 p.R1831 0.92 NULL HMMPfam_BAT2_N - no_errors BAT3 7917 broad.mit.edu 36 6 31715337 31715337 + Silent SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 31715337 31715337 G A SNP BAT3 NM_004639 human genbank 54_36p -1 reviewed silent c.3222 p.A1074 0.99 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" - no_errors C6orf47 57827 broad.mit.edu 36 6 31735240 31735240 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31735240 31735240 A T SNP C6orf47 NM_021184 human genbank 54_36p -1 validated nonsense c.464 p.L155* 1 NULL NULL - no_errors CLIC1 1192 broad.mit.edu 36 6 31812045 31812045 + Silent SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31812045 31812045 T C SNP CLIC1 NM_001288 human genbank 54_36p -1 reviewed silent c.12 p.E4 0.98 NULL "superfamily_Thioredoxin-like,superfamily_Glutathione S-transferase (GST) C-terminal domain" - no_errors MSH5 4439 broad.mit.edu 36 6 31835702 31835702 + Silent SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 31835702 31835702 A G SNP MSH5 NM_025259 human genbank 54_36p 1 reviewed silent c.1707 p.Q569 0.02 "HMMSmart_MUTSd,HMMPfam_MutS_V,superfamily_SSF52540" "HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" - no_errors MSH5 4439 broad.mit.edu 36 6 31835858 31835858 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 31835858 31835858 G T SNP MSH5 NM_025259 human genbank 54_36p 1 reviewed missense c.1749 p.M583I 1 "HMMPfam_MutS_V,HMMSmart_MUTSd,superfamily_SSF52540" "HMMPfam_MutS_V,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2,HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV,superfamily_SSF52540" - no_errors C6orf27 80737 broad.mit.edu 36 6 31842069 31842069 + Silent SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31842069 31842069 C T SNP C6orf27 NM_025258 human genbank 54_36p -1 validated silent c.2256 p.S752 0.92 NULL "HMMSmart_VWA,superfamily_SSF53300" - no_errors C6orf27 80737 broad.mit.edu 36 6 31844873 31844873 + Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31844873 31844873 G C SNP C6orf27 NM_025258 human genbank 54_36p -1 validated nonsense c.1404 p.Y468* 0.05 HMMSmart_VWA "HMMSmart_VWA,superfamily_SSF53300" - no_errors HSPA1L 3305 broad.mit.edu 36 6 31886415 31886415 + Silent SNP G G T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 31886415 31886415 G T SNP HSPA1L NM_005527 human genbank 54_36p -1 reviewed silent c.1314 p.P438 0.87 "HMMPfam_HSP70,superfamily_SSF100920" "superfamily_SSF53067,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934" - no_errors HSPA1L 3305 broad.mit.edu 36 6 31886993 31886993 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31886993 31886993 C G SNP HSPA1L NM_005527 human genbank 54_36p -1 reviewed missense c.736 p.E246Q 1 "HMMPfam_HSP70,superfamily_SSF53067" "HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934,superfamily_SSF53067" - no_errors HSPA1A 3303 broad.mit.edu 36 6 31893249 31893249 + Silent SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 31893249 31893249 G A SNP HSPA1A NM_005345 human genbank 54_36p 1 reviewed silent c.1737 p.S579 0.99 "HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" "superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" - no_errors SLC44A4 80736 broad.mit.edu 36 6 31939439 31939439 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 31939439 31939439 T C SNP SLC44A4 NM_025257 human genbank 54_36p -1 validated missense c.2077 p.K693E 1 HMMPfam_DUF580 HMMPfam_DUF580 - no_errors EHMT2 10919 broad.mit.edu 36 6 31963609 31963609 + Silent SNP A A C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 31963609 31963609 A C SNP EHMT2 NM_006709 human genbank 54_36p -1 reviewed silent c.1854 p.L618 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SM00317" - no_errors CYP21A2 1589 broad.mit.edu 36 6 32114262 32114262 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 32114262 32114262 C T SNP CYP21A2 ENST00000402288 human ensembl 54_36p 1 known missense c.82 p.P28S 0.02 NULL NULL - no_errors TNXB 7148 broad.mit.edu 36 6 32137896 32137925 + Splice_Site DEL CCCATCGTCCACTCACCTGTCACCCCGATG - CCCATCGTCCACTCACCTGTCACCCCGATG novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W CCCATCGTCCACTCACCTGTCACCCCGATG CCCATCGTCCACTCACCTGTCACCCCGATG - - CCCATCGTCCACTCACCTGTCACCCCGATG CCCATCGTCCACTCACCTGTCACCCCGATG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 32137896 32137925 CCCATCGTCCACTCACCTGTCACCCCGATG - DEL TNXB NM_019105 human genbank 54_36p -1 reviewed splice_site_del c.7354+15_7354+1 e21-1 0.005:0.008:0.010:0.012:0.008:0.008:0.083:0.129:0.266:0.673:0.803:0.834:0.836:0.628:0.623:0.583:0.396:0.139:0.137:0.105:0.068:0.034:0.021:0.018:0.019:0.012:0.002:0.002:0.005:0.093 - - "(deletion:intron[32137470,32137911], cds_exon[32137912,32138208])" no_errors TNXB 7148 broad.mit.edu 36 6 32155002 32155002 + Silent SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 32155002 32155002 C T SNP TNXB NM_019105 human genbank 54_36p -1 reviewed silent c.4422 p.S1474 0.98 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors TNXB 7148 broad.mit.edu 36 6 32161706 32161706 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 32161706 32161706 C A SNP TNXB NM_019105 human genbank 54_36p -1 reviewed missense c.3208 p.A1070S 0.83 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors NOTCH4 4855 broad.mit.edu 36 6 32271779 32271779 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 32271779 32271779 G T SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.5425 p.Q1809K 1 superfamily_Ankyrin repeat ############################################################################################################################################################################################################################################################### - no_errors HLA-DRA 3122 broad.mit.edu 36 6 32518414 32518414 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 32518414 32518414 G A SNP HLA-DRA NM_019111 human genbank 54_36p 1 reviewed missense c.294 p.M98I 0.95 "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_II_alpha" "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_II_alpha,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors TAP2 6891 broad.mit.edu 36 6 32911441 32911441 + Silent SNP G G T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 32911441 32911441 G T SNP TAP2 NM_018833 human genbank 54_36p -1 reviewed silent c.696 p.S232 0 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane" "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors BRD2 6046 broad.mit.edu 36 6 33052440 33052440 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33052440 33052440 C T SNP BRD2 NM_005104 human genbank 54_36p 1 reviewed missense c.949 p.R317C 0.98 NULL "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BRD2 6046 broad.mit.edu 36 6 33052576 33052577 + Frame_Shift_Ins INS - T - novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W - - T T - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 33052576 33052577 - T INS BRD2 NM_005104 human genbank 54_36p 1 reviewed frame_shift_ins c.1085_1086 p.K363fs 1.000:0.998 "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors HLA-DPB1 3115 broad.mit.edu 36 6 33151827 33151827 + Silent SNP C C A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33151827 33151827 C A SNP HLA-DPB1 NM_002121 human genbank 54_36p 1 reviewed silent c.31 p.R11 0 superfamily_MHC antigen-recognition domain "superfamily_MHC antigen-recognition domain,HMMPfam_MHC_II_beta,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors COL11A2 1302 broad.mit.edu 36 6 33248297 33248297 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 33248297 33248297 T A SNP COL11A2 NM_080680 human genbank 54_36p -1 reviewed missense c.2886 p.K962N 1 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL11A2 1302 broad.mit.edu 36 6 33249789 33249789 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 33249789 33249789 G A SNP COL11A2 NM_080680 human genbank 54_36p -1 reviewed missense c.2506 p.P836S 1 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00282,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors RXRB 6257 broad.mit.edu 36 6 33273584 33273584 + Silent SNP C C T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 33273584 33273584 C T SNP RXRB NM_021976 human genbank 54_36p -1 reviewed silent c.753 p.K251 1 "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors RING1 6015 broad.mit.edu 36 6 33287050 33287050 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 33287050 33287050 C T SNP RING1 NM_002931 human genbank 54_36p 1 reviewed missense c.593 p.P198L 0.39 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors VPS52 6293 broad.mit.edu 36 6 33344342 33344342 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33344342 33344342 G C SNP VPS52 NM_022553 human genbank 54_36p -1 reviewed missense c.611 p.A204G 1 HMMPfam_Vps52 HMMPfam_Vps52 - no_errors B3GALT4 8705 broad.mit.edu 36 6 33353220 33353220 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 33353220 33353220 C G SNP B3GALT4 NM_003782 human genbank 54_36p 1 reviewed missense c.46 p.L16V 0 NULL "HMMPfam_Galactosyl_T,PatternScan_PARATHYROID" - no_errors RGL2 5863 broad.mit.edu 36 6 33369221 33369221 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 33369221 33369221 C T SNP RGL2 NM_004761 human genbank 54_36p -1 provisional missense c.1663 p.G555R 0.01 NULL "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314" - no_errors TAPBP 6892 broad.mit.edu 36 6 33380127 33380127 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33380127 33380127 G A SNP TAPBP NM_003190 human genbank 54_36p -1 reviewed missense c.1135 p.R379C 0.05 "superfamily_SSF48726,HMMPfam_C1-set" "superfamily_SSF48726,HMMPfam_C1-set" - no_errors TAPBP 6892 broad.mit.edu 36 6 33381037 33381037 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 33381037 33381037 G A SNP TAPBP NM_003190 human genbank 54_36p -1 reviewed missense c.575 p.A192V 0 NULL "HMMPfam_C1-set,superfamily_SSF48726" - no_errors SYNGAP1 8831 broad.mit.edu 36 6 33507998 33507998 + Silent SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33507998 33507998 C T SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated silent c.333 p.F111 1 HMMSmart_SM00233 "HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" - no_errors SYNGAP1 8831 broad.mit.edu 36 6 33519227 33519227 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33519227 33519227 G A SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated missense c.2875 p.D959N 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like" - no_errors SYNGAP1 8831 broad.mit.edu 36 6 33519423 33519423 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33519423 33519423 T C SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated missense c.3071 p.I1024T 0.92 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like" - no_errors SYNGAP1 8831 broad.mit.edu 36 6 33519653 33519661 + In_Frame_Del DEL GGGGGCAGC - GGGGGCAGC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D GGGGGCAGC GGGGGCAGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 33519653 33519661 GGGGGCAGC - DEL SYNGAP1 NM_006772 human genbank 54_36p 1 validated in_frame_del c.3301_3309 p.GGS1104in_frame_del 0.999:1.000:1.000:1.000:1.000:0.997:0.993:0.993:0.994 NULL "HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" "(deletion:cds_exon[33518644,33519715])" no_errors ITPR3 3710 broad.mit.edu 36 6 33747782 33747782 + Splice_Site SNP A A G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 33747782 33747782 A G SNP ITPR3 NM_002224 human genbank 54_36p 1 validated splice_site c.2729-2 e22-2 1 - - - no_errors ITPR3 3710 broad.mit.edu 36 6 33756419 33756419 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 33756419 33756419 A G SNP ITPR3 NM_002224 human genbank 54_36p 1 validated missense c.4460 p.N1487S 1 NULL "HMMPfam_Ins145_P3_rec,superfamily_MIR,HMMSmart_MIR,HMMPfam_MIR,superfamily_SSF100909,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors SPDEF 25803 broad.mit.edu 36 6 34620121 34620121 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 34620121 34620121 C A SNP SPDEF NM_012391 human genbank 54_36p -1 provisional missense c.90 p.K30N 0.76 NULL "superfamily_SAM_homology,HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors UHRF1BP1 54887 broad.mit.edu 36 6 34934094 34934094 + Silent SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 34934094 34934094 G C SNP UHRF1BP1 NM_017754 human genbank 54_36p 1 validated silent c.1983 p.L661 0.96 NULL NULL - no_errors ANKS1A 23294 broad.mit.edu 36 6 35058566 35058566 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 35058566 35058566 A C SNP ANKS1A NM_015245 human genbank 54_36p 1 validated missense c.792 p.Q264H 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "HMMPfam_Ank,superfamily_ANK,HMMSmart_ANK,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" - no_errors ANKS1A 23294 broad.mit.edu 36 6 35159259 35159259 + Splice_Site SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 35159259 35159259 G C SNP ANKS1A NM_015245 human genbank 54_36p 1 validated splice_site c.2994+1 e20+1 1 - - - no_errors ZNF76 7629 broad.mit.edu 36 6 35370316 35370317 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 35370316 35370317 GC AA DNP ZNF76 NM_003427 human genbank 54_36p 1 provisional missense c.1600_1601 p.A534K 1.000:1.000 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RPL10A 4736 broad.mit.edu 36 6 35544190 35544190 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 35544190 35544190 A G SNP RPL10A NM_007104 human genbank 54_36p 1 reviewed missense c.1 p.M1V 0.8 NULL "superfamily_Ribosomal protein L1,HMMPfam_Ribosomal_L1,PatternScan_RIBOSOMAL_L1" - no_errors TEAD3 7005 broad.mit.edu 36 6 35562328 35562328 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 35562328 35562328 A C SNP TEAD3 ENST00000402886 human ensembl 54_36p -1 known missense c.38 p.M13R 0.99 HMMPfam_TEA HMMPfam_TEA - no_errors TULP1 7287 broad.mit.edu 36 6 35579397 35579397 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 35579397 35579397 C G SNP TULP1 NM_003322 human genbank 54_36p -1 reviewed missense c.1240 p.G414R 1 "superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub" "superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2" - no_errors SLC26A8 116369 broad.mit.edu 36 6 36027027 36027028 + Missense_Mutation DNP AC AC TG novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 36027027 36027028 AC TG DNP SLC26A8 NM_052961 human genbank 54_36p -1 reviewed missense c.2363_2362 p.V788H 0.990:0.983 "HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa" "HMMPfam_Sulfate_transp,HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa" - no_errors SLC26A8 116369 broad.mit.edu 36 6 36095275 36095275 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 36095275 36095275 C G SNP SLC26A8 NM_052961 human genbank 54_36p -1 reviewed missense c.188 p.R63P 0.97 NULL "HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa,HMMPfam_Sulfate_transp" - no_errors MAPK14 1432 broad.mit.edu 36 6 36103942 36103942 + Silent SNP G G C novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 36103942 36103942 G C SNP MAPK14 NM_001315 human genbank 54_36p 1 reviewed silent c.30 p.R10 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK" - no_errors BRPF3 27154 broad.mit.edu 36 6 36293673 36293673 + Silent SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 36293673 36293673 C T SNP BRPF3 NM_015695 human genbank 54_36p 1 validated silent c.2991 p.G997 0.93 NULL "HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP" - no_errors C6orf222 389384 broad.mit.edu 36 6 36399072 36399072 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 36399072 36399072 G A SNP C6orf222 NM_001010903 human genbank 54_36p -1 predicted missense c.1447 p.R483W 0 NULL NULL - no_errors KCTD20 222658 broad.mit.edu 36 6 36557492 36557492 + Silent SNP A A T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 36557492 36557492 A T SNP KCTD20 NM_173562 human genbank 54_36p 1 provisional silent c.834 p.P278 1 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" - no_errors KCTD20 222658 broad.mit.edu 36 6 36557496 36557496 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 36557496 36557496 G C SNP KCTD20 NM_173562 human genbank 54_36p 1 provisional missense c.838 p.G280R 1 NULL "HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain" - no_errors STK38 11329 broad.mit.edu 36 6 36574117 36574117 + Splice_Site SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 36574117 36574117 C T SNP STK38 NM_007271 human genbank 54_36p -1 provisional splice_site c.1076+1 e10+1 1 - - - no_errors FGD2 221472 broad.mit.edu 36 6 37096296 37096296 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 37096296 37096296 T G SNP FGD2 NM_173558 human genbank 54_36p 1 validated missense c.1124 p.V375G 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors RNF8 9025 broad.mit.edu 36 6 37466509 37466509 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 37466509 37466509 C T SNP RNF8 NM_183078 human genbank 54_36p 1 reviewed missense c.1250 p.S417F 0.17 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA" - no_errors FTSJD2 23070 broad.mit.edu 36 6 37526034 37526034 + Silent SNP T T C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 37526034 37526034 T C SNP FTSJD2 NM_015050 human genbank 54_36p 1 validated silent c.474 p.F158 1 NULL "HMMSmart_SM00443,HMMPfam_G-patch,HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1" - no_errors GLO1 2739 broad.mit.edu 36 6 38778750 38778750 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 38778750 38778750 C T SNP GLO1 NM_006708 human genbank 54_36p -1 reviewed missense c.59 p.C20Y 1 superfamily_SSF54593 "superfamily_SSF54593,HMMPfam_Glyoxalase,PatternScan_GLYOXALASE_I_1,PatternScan_GLYOXALASE_I_2" - no_errors GLO1 2739 broad.mit.edu 36 6 38778781 38778781 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 38778781 38778781 C A SNP GLO1 NM_006708 human genbank 54_36p -1 reviewed missense c.28 p.G10C 0.99 superfamily_SSF54593 "HMMPfam_Glyoxalase,PatternScan_GLYOXALASE_I_1,PatternScan_GLYOXALASE_I_2,superfamily_SSF54593" - no_errors DNAH8 1769 broad.mit.edu 36 6 38949054 38949054 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 38949054 38949054 T C SNP DNAH8 NM_001371 human genbank 54_36p 1 validated missense c.6893 p.F2298S 1 NULL "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DNAH8 1769 broad.mit.edu 36 6 38975645 38975645 + Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 38975645 38975645 A C SNP DNAH8 NM_001371 human genbank 54_36p 1 validated missense c.8528 p.Q2843P 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH8 1769 broad.mit.edu 36 6 39027108 39027108 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 39027108 39027108 A T SNP DNAH8 NM_001371 human genbank 54_36p 1 validated missense c.11634 p.R3878S 1 HMMPfam_Dynein_heavy "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KCNK17 89822 broad.mit.edu 36 6 39380357 39380357 + Silent SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 39380357 39380357 G A SNP KCNK17 NM_031460 human genbank 54_36p -1 reviewed silent c.405 p.F135 1 "superfamily_SSF81324,HMMPfam_Ion_trans_2" "superfamily_SSF81324,HMMPfam_Ion_trans_2" - no_errors DAAM2 23500 broad.mit.edu 36 6 39954010 39954010 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 39954010 39954010 G A SNP DAAM2 NM_015345 human genbank 54_36p 1 validated missense c.1355 p.R452Q 1 NULL "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" - no_errors MOCS1 4337 broad.mit.edu 36 6 39985574 39985574 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 39985574 39985574 T C SNP MOCS1 NM_005942 human genbank 54_36p -1 reviewed missense c.1085 p.K362R 1 "superfamily_SSF102114,HMMPfam_Mob_synth_C" "superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM,PatternScan_MOAA_NIFB_PQQE,HMMPfam_Mob_synth_C,superfamily_MoaC,HMMPfam_MoaC" - no_errors LRFN2 57497 broad.mit.edu 36 6 40508130 40508130 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 40508130 40508130 G T SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional missense c.701 p.P234H 0.97 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors UNC5CL 222643 broad.mit.edu 36 6 41110695 41110695 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 41110695 41110695 A G SNP UNC5CL NM_173561 human genbank 54_36p -1 provisional missense c.97 p.W33R 0.98 NULL "HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors UNC5CL 222643 broad.mit.edu 36 6 41110776 41110776 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 41110776 41110776 T C SNP UNC5CL NM_173561 human genbank 54_36p -1 provisional missense c.16 p.S6G 0.04 NULL "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,superfamily_DEATH_like" - no_errors TREM2 54209 broad.mit.edu 36 6 41234688 41234688 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 41234688 41234688 G A SNP TREM2 NM_018965 human genbank 54_36p -1 reviewed missense c.577 p.L193F 0.86 NULL "HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors TFEB 7942 broad.mit.edu 36 6 41763652 41763652 + Silent SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 41763652 41763652 C G SNP TFEB NM_007162 human genbank 54_36p -1 provisional silent c.642 p.A214 0.19 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors USP49 25862 broad.mit.edu 36 6 41879597 41879597 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 41879597 41879597 G A SNP USP49 NM_018561 human genbank 54_36p -1 provisional missense c.1486 p.L496F 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP49 25862 broad.mit.edu 36 6 41882255 41882255 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 41882255 41882255 G A SNP USP49 NM_018561 human genbank 54_36p -1 provisional missense c.445 p.R149C 1 NULL "HMMPfam_UCH,HMMPfam_zf-UBP,HMMSmart_SM00290,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors TAF8 129685 broad.mit.edu 36 6 42153255 42153255 + Silent SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42153255 42153255 C T SNP TAF8 NM_138572 human genbank 54_36p 1 reviewed silent c.927 p.L309 1 NULL "HMMPfam_Bromo_TP,HMMSmart_SM00576,superfamily_Histone-fold,HMMPfam_TAF8_C" - no_errors TRERF1 55809 broad.mit.edu 36 6 42339057 42339057 + Silent SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42339057 42339057 C T SNP TRERF1 NM_033502 human genbank 54_36p -1 reviewed silent c.1863 p.S621 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors UBR2 23304 broad.mit.edu 36 6 42731385 42731385 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42731385 42731385 G C SNP UBR2 NM_015255 human genbank 54_36p 1 provisional missense c.2818 p.E940Q 1 NULL "PatternScan_LIPOCALIN,HMMPfam_zf-UBR,HMMSmart_SM00396,superfamily_ClpS-like,HMMPfam_ClpS,PatternScan_RCC1_2" - no_errors UBR2 23304 broad.mit.edu 36 6 42758817 42758817 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42758817 42758817 G T SNP UBR2 NM_015255 human genbank 54_36p 1 provisional missense c.4765 p.D1589Y 1 NULL "PatternScan_RCC1_2,PatternScan_LIPOCALIN,HMMPfam_zf-UBR,HMMPfam_ClpS,HMMSmart_SM00396,superfamily_ClpS-like" - no_errors PRPH2 5961 broad.mit.edu 36 6 42797500 42797500 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42797500 42797500 T C SNP PRPH2 NM_000322 human genbank 54_36p -1 reviewed missense c.551 p.Y184C 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" - no_errors PRPH2 5961 broad.mit.edu 36 6 42797589 42797589 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42797589 42797589 C G SNP PRPH2 NM_000322 human genbank 54_36p -1 reviewed missense c.462 p.K154N 1 "superfamily_Tetraspanin,HMMPfam_Tetraspannin" "superfamily_Tetraspanin,PatternScan_RDS_ROM1,HMMPfam_Tetraspannin" - no_errors KIAA0240 23506 broad.mit.edu 36 6 42927907 42927907 + Silent SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 42927907 42927907 C T SNP KIAA0240 NM_015349 human genbank 54_36p 1 validated silent c.1939 p.L647 0.99 NULL NULL - no_errors PTCRA 171558 broad.mit.edu 36 6 42998839 42998839 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 42998839 42998839 T A SNP PTCRA NM_138296 human genbank 54_36p 1 validated missense c.155 p.V52D 0.01 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors PPP2R5D 5528 broad.mit.edu 36 6 43086428 43086428 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 43086428 43086428 G T SNP PPP2R5D NM_006245 human genbank 54_36p 1 reviewed missense c.1530 p.E510D 1 HMMPfam_B56 HMMPfam_B56 - no_errors CUL7 9820 broad.mit.edu 36 6 43121332 43121332 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 43121332 43121332 T C SNP CUL7 NM_014780 human genbank 54_36p -1 validated missense c.2833 p.I945V 1 "superfamily_Gal_bind_like,HMMPfam_APC10" "PatternScan_CULLIN_1,superfamily_Gal_bind_like,HMMPfam_APC10,HMMPfam_Cullin,superfamily_Cullin_homology,superfamily_SSF46785" - no_errors CUL7 9820 broad.mit.edu 36 6 43125345 43125345 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43125345 43125345 C T SNP CUL7 NM_014780 human genbank 54_36p -1 validated missense c.1603 p.V535M 0.97 NULL "HMMPfam_Cullin,HMMPfam_APC10,superfamily_Gal_bind_like,PatternScan_CULLIN_1,superfamily_Cullin_homology,superfamily_SSF46785" - no_errors KLC4 89953 broad.mit.edu 36 6 43147302 43147302 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43147302 43147302 G C SNP KLC4 NM_201523 human genbank 54_36p 1 validated missense c.1329 p.W443C 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_Rab5-bind,HMMPfam_TPR_1,HMMSmart_SM00028,PatternScan_KINESIN_LIGHT" - no_errors CUL9 23113 broad.mit.edu 36 6 43260447 43260447 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43260447 43260447 G A SNP CUL9 NM_015089 human genbank 54_36p 1 validated missense c.421 p.A141T 0.93 superfamily_ARM repeat ############################################################################################################################################################################################################################################################### - no_errors CUL9 23113 broad.mit.edu 36 6 43262063 43262063 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 43262063 43262063 G C SNP CUL9 NM_015089 human genbank 54_36p 1 validated missense c.1143 p.Q381H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CUL9 23113 broad.mit.edu 36 6 43282121 43282121 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43282121 43282121 C T SNP CUL9 NM_015089 human genbank 54_36p 1 validated missense c.5107 p.R1703C 1 "HMMPfam_Cullin,superfamily_Cullin homology domain" ############################################################################################################################################################################################################################################################### - no_errors CUL9 23113 broad.mit.edu 36 6 43282193 43282193 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 43282193 43282193 G T SNP CUL9 NM_015089 human genbank 54_36p 1 validated missense c.5179 p.A1727S 0.7 "HMMPfam_Cullin,superfamily_Cullin homology domain" ############################################################################################################################################################################################################################################################### - no_errors CUL9 23113 broad.mit.edu 36 6 43282202 43282202 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 6 43282202 43282202 C T SNP CUL9 NM_015089 human genbank 54_36p 1 validated missense c.5188 p.R1730C 0.96 "HMMPfam_Cullin,superfamily_Cullin homology domain" ############################################################################################################################################################################################################################################################### - no_errors TTBK1 84630 broad.mit.edu 36 6 43338651 43338651 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 43338651 43338651 G A SNP TTBK1 NM_032538 human genbank 54_36p 1 validated missense c.1571 p.S524N 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" - no_errors TTBK1 84630 broad.mit.edu 36 6 43359650 43359650 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43359650 43359650 C G SNP TTBK1 NM_032538 human genbank 54_36p 1 validated missense c.3194 p.T1065R 0.99 NULL "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors ZNF318 24149 broad.mit.edu 36 6 43414883 43414883 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43414883 43414883 C T SNP ZNF318 NM_014345 human genbank 54_36p -1 validated missense c.4831 p.D1611N 0.05 NULL "HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF318 24149 broad.mit.edu 36 6 43433287 43433287 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43433287 43433287 C T SNP ZNF318 NM_014345 human genbank 54_36p -1 validated missense c.743 p.R248Q 0.06 NULL "HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors ABCC10 89845 broad.mit.edu 36 6 43510542 43510542 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43510542 43510542 G A SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed missense c.1457 p.G486E 1 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane" "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC10 89845 broad.mit.edu 36 6 43514388 43514388 + Silent SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 43514388 43514388 G A SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed silent c.1920 p.L640 1 "HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors ABCC10 89845 broad.mit.edu 36 6 43520953 43520953 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43520953 43520953 C T SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed missense c.2869 p.R957W 1 "HMMPfam_ABC_membrane,superfamily_ABC_TM_1" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors ABCC10 89845 broad.mit.edu 36 6 43523456 43523456 + Silent SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43523456 43523456 G A SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed silent c.3678 p.A1226 0.78 superfamily_SSF52540 "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors TJAP1 93643 broad.mit.edu 36 6 43579116 43579116 + Splice_Site SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 43579116 43579116 G A SNP TJAP1 NM_080604 human genbank 54_36p 1 reviewed splice_site c.358-1 e5-1 1 - - - no_errors XPO5 57510 broad.mit.edu 36 6 43600256 43600256 + Silent SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 43600256 43600256 G A SNP XPO5 NM_020750 human genbank 54_36p -1 validated silent c.3408 p.P1136 0.98 NULL "superfamily_ARM repeat,HMMPfam_Xpo1" - no_errors VEGFA 7422 broad.mit.edu 36 6 43854193 43854193 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 43854193 43854193 C T SNP VEGFA NM_001025366 human genbank 54_36p 1 reviewed missense c.874 p.H292Y 0.96 "superfamily_Cystine-knot cytokines,HMMSmart_SM00141,HMMPfam_PDGF" "superfamily_Cystine-knot cytokines,HMMSmart_SM00141,HMMPfam_PDGF,PatternScan_PDGF_1,superfamily_Heparin-binding domain from vascular endothelial growth factor" - no_errors MRPL14 64928 broad.mit.edu 36 6 44189821 44189821 + Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 44189821 44189821 G T SNP MRPL14 NM_032111 human genbank 54_36p -1 reviewed missense c.175 p.H59N 1 "HMMPfam_Ribosomal_L14,superfamily_Ribosomal protein L14" "HMMPfam_Ribosomal_L14,superfamily_Ribosomal protein L14" - no_errors TMEM63B 55362 broad.mit.edu 36 6 44229509 44229509 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 44229509 44229509 G A SNP TMEM63B NM_018426 human genbank 54_36p 1 validated silent c.2061 p.A687 0.61 HMMPfam_DUF221 HMMPfam_DUF221 - no_errors CAPN11 11131 broad.mit.edu 36 6 44253067 44253067 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 44253067 44253067 C T SNP CAPN11 NM_007058 human genbank 54_36p 1 reviewed nonsense c.1237 p.Q413* 1 "HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III)" ############################################################################################################################################################################################################################################################### - no_errors SLC35B2 347734 broad.mit.edu 36 6 44331028 44331028 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 44331028 44331028 G C SNP SLC35B2 NM_178148 human genbank 54_36p -1 validated missense c.692 p.S231C 1 "HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE" "HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE,PatternScan_COPPER_BLUE" - no_errors TCTE1 202500 broad.mit.edu 36 6 44358180 44358180 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 44358180 44358180 A C SNP TCTE1 NM_182539 human genbank 54_36p -1 provisional missense c.941 p.L314W 1 superfamily_SSF52047 superfamily_SSF52047 - no_errors TCTE1 202500 broad.mit.edu 36 6 44362100 44362100 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 44362100 44362100 C T SNP TCTE1 NM_182539 human genbank 54_36p -1 provisional missense c.425 p.C142Y 1 NULL superfamily_SSF52047 - no_errors AARS2 57505 broad.mit.edu 36 6 44379046 44379046 + Silent SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 44379046 44379046 G A SNP AARS2 NM_020745 human genbank 54_36p -1 validated silent c.2100 p.P700 1 superfamily_Thr/Ala-tRNA-synth_IIc_edit "superfamily_SSF55681,HMMPfam_tRNA-synt_2c,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,HMMPfam_tRNA_SAD" - no_errors AARS2 57505 broad.mit.edu 36 6 44380903 44380903 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 44380903 44380903 C T SNP AARS2 NM_020745 human genbank 54_36p -1 validated missense c.1445 p.R482Q 0.44 "superfamily_Ala-tRNA-synth_IIc_anticod-bd,HMMPfam_tRNA-synt_2c" "HMMPfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,HMMPfam_tRNA-synt_2c,superfamily_SSF55681" - no_errors SUPT3H 8464 broad.mit.edu 36 6 45079473 45079473 + Silent SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 45079473 45079473 T C SNP SUPT3H NM_181356 human genbank 54_36p -1 provisional silent c.432 p.R144 1 NULL "superfamily_Histone-fold,HMMPfam_TFIID-18kDa" - no_errors SUPT3H 8464 broad.mit.edu 36 6 45079481 45079481 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 45079481 45079481 T C SNP SUPT3H NM_181356 human genbank 54_36p -1 provisional missense c.424 p.N142D 0.98 NULL "HMMPfam_TFIID-18kDa,superfamily_Histone-fold" - no_errors RUNX2 860 broad.mit.edu 36 6 45588070 45588070 + Silent SNP C C A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 45588070 45588070 C A SNP RUNX2 NM_001024630 human genbank 54_36p 1 reviewed silent c.1173 p.S391 1 NULL "HMMPfam_Runt,superfamily_P53_like_DNA_bnd,HMMPfam_RunxI" - no_errors ENPP4 22875 broad.mit.edu 36 6 46216070 46216070 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 6 46216070 46216070 A C SNP ENPP4 NM_014936 human genbank 54_36p 1 validated missense c.791 p.D264A 1 "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" - no_errors ENPP4 22875 broad.mit.edu 36 6 46219244 46219244 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 46219244 46219244 C T SNP ENPP4 NM_014936 human genbank 54_36p 1 validated missense c.1270 p.L424F 1 NULL "HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core" - no_errors CYP39A1 51302 broad.mit.edu 36 6 46671809 46671809 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 46671809 46671809 A T SNP CYP39A1 NM_016593 human genbank 54_36p -1 reviewed missense c.939 p.D313E 0.35 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450" - no_errors TDRD6 221400 broad.mit.edu 36 6 46766950 46766950 + Silent SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 46766950 46766950 C G SNP TDRD6 NM_001010870 human genbank 54_36p 1 provisional silent c.3126 p.A1042 0.99 "HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR" "HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748" - no_errors MEP1A 4224 broad.mit.edu 36 6 46869378 46869378 + Silent SNP T T C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 46869378 46869378 T C SNP MEP1A NM_005588 human genbank 54_36p 1 validated silent c.111 p.F37 0 NULL "PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Astacin,PatternScan_ZINC_PROTEASE,HMMSmart_MAM,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF" - no_errors GPR116 221395 broad.mit.edu 36 6 46936434 46936434 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 46936434 46936434 G A SNP GPR116 NM_001098518 human genbank 54_36p -1 validated nonsense c.2356 p.Q786* 0.95 NULL "PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR110 266977 broad.mit.edu 36 6 47085986 47085986 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 47085986 47085986 G A SNP GPR110 NM_153840 human genbank 54_36p -1 validated missense c.1144 p.L382F 0.76 NULL "superfamily_SEA domain,HMMPfam_SEA,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors GPR110 266977 broad.mit.edu 36 6 47092432 47092432 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 47092432 47092432 C G SNP GPR110 NM_153840 human genbank 54_36p -1 validated missense c.643 p.V215L 0.53 "HMMPfam_SEA,superfamily_SEA domain" "HMMPfam_SEA,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,superfamily_SEA domain" - no_errors GPR115 221393 broad.mit.edu 36 6 47788128 47788128 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 47788128 47788128 A G SNP GPR115 NM_153838 human genbank 54_36p 1 validated missense c.377 p.E126G 0.07 NULL HMMPfam_7tm_2 - no_errors GPR115 221393 broad.mit.edu 36 6 47790221 47790221 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 47790221 47790221 G A SNP GPR115 NM_153838 human genbank 54_36p 1 validated nonsense c.1281 p.W427* 1 NULL HMMPfam_7tm_2 - no_errors C6orf138 442213 broad.mit.edu 36 6 48084503 48084503 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 48084503 48084503 G C SNP C6orf138 NM_001013732 human genbank 54_36p -1 validated missense c.682 p.L228V 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors MUT 4594 broad.mit.edu 36 6 49535127 49535127 + Silent SNP A A G novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 49535127 49535127 A G SNP MUT NM_000255 human genbank 54_36p -1 reviewed silent c.12 p.A4 1 NULL "superfamily_Cobalamin (vitamin B12)-dependent enzymes,HMMPfam_MM_CoA_mutase,PatternScan_METMALONYL_COA_MUTASE,superfamily_Cobalamin (vitamin B12)-binding domain,HMMPfam_B12-binding" - no_errors CENPQ 55166 broad.mit.edu 36 6 49556675 49556675 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 49556675 49556675 T G SNP CENPQ NM_018132 human genbank 54_36p 1 validated missense c.400 p.L134V 0.21 NULL NULL - no_errors PGK2 5232 broad.mit.edu 36 6 49862556 49862556 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 49862556 49862556 C A SNP PGK2 NM_138733 human genbank 54_36p -1 provisional missense c.304 p.A102S 0.04 "HMMPfam_PGK,superfamily_PGK" "HMMPfam_PGK,superfamily_PGK,PatternScan_PGLYCERATE_KINASE" - no_errors DEFB110 245913 broad.mit.edu 36 6 50097552 50097552 + Splice_Site SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 50097552 50097552 C T SNP DEFB111 NM_001037497 human genbank 54_36p -1 provisional splice_site c.55+1 e1+1 0.99 - - - no_errors DEFB112 245915 broad.mit.edu 36 6 50119434 50119434 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 50119434 50119434 T A SNP DEFB112 NM_001037498 human genbank 54_36p -1 provisional missense c.155 p.K52M 0 NULL NULL - no_errors TFAP2D 83741 broad.mit.edu 36 6 50804949 50804949 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 50804949 50804949 C A SNP TFAP2D NM_172238 human genbank 54_36p 1 validated missense c.848 p.A283E 1 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors TFAP2D 83741 broad.mit.edu 36 6 50804977 50804977 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 50804977 50804977 G C SNP TFAP2D NM_172238 human genbank 54_36p 1 validated missense c.876 p.L292F 1 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors TFAP2D 83741 broad.mit.edu 36 6 50826952 50826952 + Silent SNP T T C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 50826952 50826952 T C SNP TFAP2D NM_172238 human genbank 54_36p 1 validated silent c.1095 p.T365 1 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors TFAP2D 83741 broad.mit.edu 36 6 50848343 50848343 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 50848343 50848343 C T SNP TFAP2D NM_172238 human genbank 54_36p 1 validated missense c.1166 p.P389L 1 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors PKHD1 5314 broad.mit.edu 36 6 51631990 51631990 + Silent SNP A A G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 51631990 51631990 A G SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed silent c.10893 p.Y3631 0 NULL "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00710,HMMPfam_G8,superfamily_Pectin lyase-like" - no_errors PKHD1 5314 broad.mit.edu 36 6 51809160 51809160 + Splice_Site SNP C C A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 51809160 51809160 C A SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed splice_site c.8173+1 e50+1 1 - - - no_errors PKHD1 5314 broad.mit.edu 36 6 52049080 52049080 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 52049080 52049080 G A SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.401 p.A134V 0.84 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8" - no_errors EFHC1 114327 broad.mit.edu 36 6 52437805 52437805 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 52437805 52437805 A C SNP EFHC1 NM_018100 human genbank 54_36p 1 validated missense c.1070 p.E357A 1 HMMSmart_SM00676 "HMMSmart_SM00676,HMMPfam_DUF1126,superfamily_EF-hand,HMMPfam_efhand" - no_errors GSTA2 2939 broad.mit.edu 36 6 52729051 52729051 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 52729051 52729051 T A SNP GSTA2 NM_000846 human genbank 54_36p -1 reviewed missense c.103 p.I35L 0.01 "superfamily_Thiordxn-like_fd,HMMPfam_GST_N" "superfamily_Thiordxn-like_fd,HMMPfam_GST_N,superfamily_GST_C_like,HMMPfam_GST_C" - no_errors GSTA5 221357 broad.mit.edu 36 6 52804631 52804631 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 52804631 52804631 C T SNP GSTA5 NM_153699 human genbank 54_36p -1 provisional missense c.643 p.E215K 0 superfamily_GST_C_like "superfamily_Thiordxn-like_fd,HMMPfam_GST_N,superfamily_GST_C_like,HMMPfam_GST_C" - no_errors GCM1 8521 broad.mit.edu 36 6 53104763 53104763 + Splice_Site SNP C C A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 53104763 53104763 C A SNP GCM1 NM_003643 human genbank 54_36p -1 reviewed splice_site c.441+1 e3+1 1 - - - no_errors GCLC 2729 broad.mit.edu 36 6 53481376 53481376 + Silent SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 53481376 53481376 T C SNP GCLC NM_001498 human genbank 54_36p -1 reviewed silent c.921 p.R307 1 "superfamily_Glutamine synthetase/guanido kinase,HMMPfam_GCS" "superfamily_Glutamine synthetase/guanido kinase,HMMPfam_GCS" - no_errors KLHL31 401265 broad.mit.edu 36 6 53626958 53626958 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 53626958 53626958 G A SNP KLHL31 NM_001003760 human genbank 54_36p -1 validated nonsense c.1072 p.Q358* 1 "superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_2,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors C6orf142 90523 broad.mit.edu 36 6 54097349 54097349 + Silent SNP A A C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54097349 54097349 A C SNP C6orf142 NM_138569 human genbank 54_36p 1 validated silent c.339 p.A113 0.01 NULL NULL - no_errors C6orf142 90523 broad.mit.edu 36 6 54097511 54097511 + Silent SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 54097511 54097511 G A SNP C6orf142 NM_138569 human genbank 54_36p 1 validated silent c.501 p.S167 0.03 NULL NULL - no_errors C6orf142 90523 broad.mit.edu 36 6 54203558 54203558 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 6 54203558 54203558 C G SNP C6orf142 NM_138569 human genbank 54_36p 1 validated missense c.1201 p.Q401E 1 NULL NULL - no_errors C6orf142 90523 broad.mit.edu 36 6 54203611 54203611 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 6 54203611 54203611 C T SNP C6orf142 NM_138569 human genbank 54_36p 1 validated silent c.1254 p.S418 0.98 NULL NULL - no_errors TINAG 27283 broad.mit.edu 36 6 54281422 54281422 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 54281422 54281422 C G SNP TINAG NM_014464 human genbank 54_36p 1 validated missense c.115 p.H39D 0.19 NULL "HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Cysteine proteinases,HMMSmart_SM00645,HMMPfam_Peptidase_C1,PatternScan_THIOL_PROTEASE_ASN" - no_errors TINAG 27283 broad.mit.edu 36 6 54320270 54320270 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54320270 54320270 C T SNP TINAG NM_014464 human genbank 54_36p 1 validated missense c.895 p.R299C 1 "HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases" "PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_SM00645,HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Cysteine proteinases" - no_errors TINAG 27283 broad.mit.edu 36 6 54322624 54322624 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54322624 54322624 T G SNP TINAG NM_014464 human genbank 54_36p 1 validated missense c.1051 p.C351G 1 "HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases" "PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_SM00645,HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Cysteine proteinases" - no_errors FAM83B 222584 broad.mit.edu 36 6 54912525 54912525 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54912525 54912525 T C SNP FAM83B NM_001010872 human genbank 54_36p 1 validated missense c.797 p.V266A 1 "HMMPfam_DUF1669,superfamily_SSF56024" "HMMPfam_DUF1669,superfamily_SSF56024" - no_errors FAM83B 222584 broad.mit.edu 36 6 54912958 54912958 + Silent SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54912958 54912958 T C SNP FAM83B NM_001010872 human genbank 54_36p 1 validated silent c.1230 p.N410 0.04 NULL "HMMPfam_DUF1669,superfamily_SSF56024" - no_errors FAM83B 222584 broad.mit.edu 36 6 54914197 54914197 + Silent SNP A A G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54914197 54914197 A G SNP FAM83B NM_001010872 human genbank 54_36p 1 validated silent c.2469 p.K823 0.32 NULL "HMMPfam_DUF1669,superfamily_SSF56024" - no_errors FAM83B 222584 broad.mit.edu 36 6 54914497 54914497 + Silent SNP T T G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 54914497 54914497 T G SNP FAM83B NM_001010872 human genbank 54_36p 1 validated silent c.2769 p.L923 0 NULL "HMMPfam_DUF1669,superfamily_SSF56024" - no_errors GFRAL 389400 broad.mit.edu 36 6 55324010 55324010 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 55324010 55324010 G T SNP GFRAL NM_207410 human genbank 54_36p 1 validated missense c.371 p.G124V 0.76 NULL "superfamily_SSF110035,HMMPfam_GDNF" - no_errors BMP5 653 broad.mit.edu 36 6 55767132 55767132 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 55767132 55767132 C T SNP BMP5 NM_021073 human genbank 54_36p -1 reviewed missense c.736 p.G246S 1 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors DST 667 broad.mit.edu 36 6 56483971 56483971 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 56483971 56483971 T C SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.11872 p.I3958V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DST 667 broad.mit.edu 36 6 56505186 56505186 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 56505186 56505186 C G SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.10132 p.E3378Q 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" ############################################################################################################################################################################################################################################################### - no_errors DST 667 broad.mit.edu 36 6 56579920 56579920 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 56579920 56579920 G T SNP DST NM_020388 human genbank 54_36p -1 reviewed missense c.5854 p.Q1952K 0.91 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,HMMPfam_Spectrin,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin,PatternScan_RIBOSOMAL_L23" - no_errors DST 667 broad.mit.edu 36 6 56604714 56604714 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 56604714 56604714 G T SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.3256 p.L1086M 0.14 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors DST 667 broad.mit.edu 36 6 56605718 56605718 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 56605718 56605718 T C SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.3065 p.D1022G 1 superfamily_Spectrin repeat ############################################################################################################################################################################################################################################################### - no_errors DST 667 broad.mit.edu 36 6 56643499 56643499 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 56643499 56643499 C A SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.480 p.W160C 1 "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" ############################################################################################################################################################################################################################################################### - no_errors BEND6 221336 broad.mit.edu 36 6 56965185 56965186 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 56965185 56965186 GG TT DNP BEND6 NM_152731 human genbank 54_36p 1 validated missense c.171_172 p.ED57DY 0.942:0.995 NULL HMMPfam_BEN - no_errors KHDRBS2 202559 broad.mit.edu 36 6 62448834 62448834 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 62448834 62448834 C A SNP KHDRBS2 NM_152688 human genbank 54_36p -1 validated missense c.1043 p.R348I 1 NULL "HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1" - no_errors KHDRBS2 202559 broad.mit.edu 36 6 62662622 62662622 + Silent SNP G G C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 62662622 62662622 G C SNP KHDRBS2 NM_152688 human genbank 54_36p -1 validated silent c.687 p.T229 0.99 NULL "HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791" - no_errors PHF3 23469 broad.mit.edu 36 6 64474071 64474071 + Silent SNP A A T novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 64474071 64474071 A T SNP PHF3 NM_015153 human genbank 54_36p 1 provisional silent c.3561 p.P1187 0.9 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC" - no_errors EYS 346007 broad.mit.edu 36 6 66171839 66171839 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 66171839 66171839 C G SNP EYS NM_198283 human genbank 54_36p -1 reviewed missense c.1005 p.E335D 0.02 "HMMSmart_SM00181,superfamily_EGF/Laminin" "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179" - no_errors BAI3 577 broad.mit.edu 36 6 69405712 69405712 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 69405712 69405712 C A SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.424 p.Q142K 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 577 broad.mit.edu 36 6 69780703 69780703 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 69780703 69780703 G T SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.1982 p.W661L 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 577 broad.mit.edu 36 6 70127958 70127958 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 70127958 70127958 C A SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.4072 p.Q1358K 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors LMBRD1 55788 broad.mit.edu 36 6 70556916 70556916 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 70556916 70556916 G A SNP LMBRD1 NM_018368 human genbank 54_36p -1 provisional missense c.239 p.T80I 1 HMMPfam_LMBR1 HMMPfam_LMBR1 - no_errors COL9A1 1297 broad.mit.edu 36 6 71027088 71027088 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 71027088 71027088 C A SNP COL9A1 NM_001851 human genbank 54_36p -1 reviewed missense c.1442 p.G481V 1 HMMPfam_Collagen "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen" - no_errors COL9A1 1297 broad.mit.edu 36 6 71040482 71040482 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 71040482 71040482 G A SNP COL9A1 NM_001851 human genbank 54_36p -1 reviewed missense c.1054 p.R352C 1 HMMPfam_Collagen "HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl" - no_errors B3GAT2 135152 broad.mit.edu 36 6 71628310 71628310 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 71628310 71628310 G C SNP B3GAT2 NM_080742 human genbank 54_36p -1 reviewed missense c.829 p.L277V 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_43" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_43" - no_errors RIMS1 22999 broad.mit.edu 36 6 72948915 72948915 + Silent SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 72948915 72948915 G T SNP RIMS1 NM_014989 human genbank 54_36p 1 validated silent c.1020 p.A340 0 NULL "superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 broad.mit.edu 36 6 73040792 73040792 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 73040792 73040792 C T SNP RIMS1 NM_014989 human genbank 54_36p 1 validated silent c.3418 p.L1140 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 broad.mit.edu 36 6 73100052 73100052 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 73100052 73100052 C T SNP RIMS1 NM_014989 human genbank 54_36p 1 validated missense c.4159 p.R1387W 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors RIMS1 22999 broad.mit.edu 36 6 73165447 73165447 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 73165447 73165447 G A SNP RIMS1 NM_014989 human genbank 54_36p 1 validated missense c.4790 p.R1597Q 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors KCNQ5 56479 broad.mit.edu 36 6 73843871 73843871 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 73843871 73843871 G A SNP KCNQ5 NM_019842 human genbank 54_36p 1 reviewed missense c.722 p.R241H 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors DDX43 55510 broad.mit.edu 36 6 74161589 74161589 + Silent SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 74161589 74161589 C T SNP DDX43 NM_018665 human genbank 54_36p 1 reviewed silent c.240 p.G80 0.16 "superfamily_SSF54791,HMMSmart_KH,HMMPfam_KH_1" "superfamily_SSF54791,HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors DDX43 55510 broad.mit.edu 36 6 74181944 74181944 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 74181944 74181944 G C SNP DDX43 NM_018665 human genbank 54_36p 1 reviewed missense c.1749 p.R583S 0 superfamily_SSF52540 "PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_KH,HMMPfam_DEAD,HMMSmart_DEXDc,HMMPfam_KH_1,superfamily_SSF52540,superfamily_SSF54791" - no_errors MTO1 25821 broad.mit.edu 36 6 74248501 74248501 + Silent SNP C C A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 74248501 74248501 C A SNP MTO1 NM_133645 human genbank 54_36p 1 reviewed silent c.1353 p.I451 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GIDA,PatternScan_GIDA_2" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_GIDA,PatternScan_GIDA_1,PatternScan_GIDA_2" - no_errors CD109 135228 broad.mit.edu 36 6 74574677 74574677 + Silent SNP A A C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 74574677 74574677 A C SNP CD109 NM_133493 human genbank 54_36p 1 validated silent c.3340 p.R1114 1 "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp" "HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep" - no_errors COL12A1 1303 broad.mit.edu 36 6 75890707 75890707 + Silent SNP T T C novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 75890707 75890707 T C SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed silent c.6708 p.K2236 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00210,HMMPfam_Collagen" - no_errors COL12A1 1303 broad.mit.edu 36 6 75894742 75894742 + Silent SNP A A G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 75894742 75894742 A G SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed silent c.6330 p.N2110 1 superfamily_Fibronectin type III "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL12A1 1303 broad.mit.edu 36 6 75958775 75958775 + Silent SNP T T C novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 75958775 75958775 T C SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed silent c.207 p.E69 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors MYO6 4646 broad.mit.edu 36 6 76681429 76681429 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 76681429 76681429 C G SNP MYO6 NM_004999 human genbank 54_36p 1 reviewed missense c.3838 p.L1280V 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors IMPG1 3617 broad.mit.edu 36 6 76717379 76717379 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 76717379 76717379 G A SNP IMPG1 NM_001563 human genbank 54_36p -1 provisional missense c.1444 p.P482S 0.29 NULL "superfamily_SSF82671,HMMPfam_SEA,HMMSmart_SEA" - no_errors IMPG1 3617 broad.mit.edu 36 6 76785218 76785218 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 76785218 76785218 C T SNP IMPG1 NM_001563 human genbank 54_36p -1 provisional silent c.744 p.K248 0.02 "HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671" "HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671" - no_errors ELOVL4 6785 broad.mit.edu 36 6 80688095 80688095 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 80688095 80688095 C A SNP ELOVL4 NM_022726 human genbank 54_36p -1 reviewed missense c.507 p.W169C 1 HMMPfam_ELO "HMMPfam_ELO,PatternScan_ELO" - no_errors TTK 7272 broad.mit.edu 36 6 80801839 80801839 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 80801839 80801839 C G SNP TTK NM_003318 human genbank 54_36p 1 provisional missense c.1910 p.T637R 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors IBTK 25998 broad.mit.edu 36 6 82980899 82980899 + Silent SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 82980899 82980899 G A SNP IBTK NM_015525 human genbank 54_36p -1 reviewed silent c.1968 p.N656 0.14 HMMSmart_SM00225 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_RCC1/BLIP-II,HMMPfam_RCC1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors IBTK 25998 broad.mit.edu 36 6 82981010 82981010 + Silent SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 82981010 82981010 C A SNP IBTK NM_015525 human genbank 54_36p -1 reviewed silent c.1857 p.V619 0.91 "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" "HMMSmart_SM00225,HMMPfam_RCC1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_RCC1/BLIP-II,superfamily_POZ domain,HMMPfam_BTB" - no_errors TPBG 7162 broad.mit.edu 36 6 83131742 83131742 + Silent SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 83131742 83131742 G C SNP TPBG NM_006670 human genbank 54_36p 1 provisional silent c.345 p.P115 0.98 superfamily_L domain-like "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - no_errors TPBG 7162 broad.mit.edu 36 6 83131803 83131803 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 83131803 83131803 G T SNP TPBG NM_006670 human genbank 54_36p 1 provisional missense c.406 p.G136C 0.04 "HMMSmart_SM00369,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" - no_errors UBE2CBP 90025 broad.mit.edu 36 6 83723832 83723832 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 83723832 83723832 G A SNP UBE2CBP NM_198920 human genbank 54_36p -1 provisional missense c.1067 p.A356V 0.53 HMMPfam_DUF2351 HMMPfam_DUF2351 - no_errors DOPEY1 23033 broad.mit.edu 36 6 83902315 83902315 + Silent SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 83902315 83902315 T C SNP DOPEY1 NM_015018 human genbank 54_36p 1 validated silent c.3129 p.N1043 0.99 NULL HMMPfam_Dopey_N - no_errors DOPEY1 23033 broad.mit.edu 36 6 83904483 83904483 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 83904483 83904483 T C SNP DOPEY1 NM_015018 human genbank 54_36p 1 validated missense c.4003 p.Y1335H 1 NULL HMMPfam_Dopey_N - no_errors DOPEY1 23033 broad.mit.edu 36 6 83920651 83920651 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 83920651 83920651 T A SNP DOPEY1 NM_015018 human genbank 54_36p 1 validated missense c.6423 p.H2141Q 1 NULL HMMPfam_Dopey_N - no_errors DOPEY1 23033 broad.mit.edu 36 6 83934367 83934367 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 83934367 83934367 T G SNP DOPEY1 NM_015018 human genbank 54_36p 1 validated missense c.7160 p.I2387S 0.98 NULL HMMPfam_Dopey_N - no_errors PRSS35 167681 broad.mit.edu 36 6 84290040 84290040 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 84290040 84290040 C T SNP PRSS35 NM_153362 human genbank 54_36p 1 provisional missense c.161 p.A54V 0 NULL "PatternScan_TRYPSIN_SER,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" - no_errors TBX18 9096 broad.mit.edu 36 6 85503762 85503762 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 85503762 85503762 C A SNP TBX18 NM_001080508 human genbank 54_36p -1 provisional missense c.1184 p.C395F 1 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBX18 9096 broad.mit.edu 36 6 85529070 85529070 + Silent SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 85529070 85529070 C T SNP TBX18 NM_001080508 human genbank 54_36p -1 provisional silent c.408 p.P136 0.08 NULL "HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors SYNCRIP 10492 broad.mit.edu 36 6 86381659 86381659 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 86381659 86381659 T C SNP SYNCRIP NM_006372 human genbank 54_36p -1 provisional missense c.1406 p.Y469C 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors HTR1E 3354 broad.mit.edu 36 6 87781917 87781917 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 87781917 87781917 C A SNP HTR1E NM_000865 human genbank 54_36p 1 validated missense c.146 p.T49N 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTR1E 3354 broad.mit.edu 36 6 87782042 87782042 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 87782042 87782042 G C SNP HTR1E NM_000865 human genbank 54_36p 1 validated missense c.271 p.G91R 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors CGA 1081 broad.mit.edu 36 6 87852257 87852257 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 87852257 87852257 C G SNP CGA NM_000735 human genbank 54_36p -1 reviewed missense c.287 p.G96A 0.01 "HMMPfam_Hormone_6,superfamily_Cystine-knot cytokines,HMMSmart_SM00067" "HMMPfam_Hormone_6,superfamily_Cystine-knot cytokines,HMMSmart_SM00067,PatternScan_GLYCO_HORMONE_ALPHA_1,PatternScan_GLYCO_HORMONE_ALPHA_2" - no_errors ZNF292 23036 broad.mit.edu 36 6 88021737 88021737 + Silent SNP A A G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 88021737 88021737 A G SNP ZNF292 NM_015021 human genbank 54_36p 1 validated silent c.1671 p.V557 1 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF292 23036 broad.mit.edu 36 6 88023857 88023857 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 88023857 88023857 C T SNP ZNF292 NM_015021 human genbank 54_36p 1 validated missense c.3791 p.P1264L 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors RARS2 57038 broad.mit.edu 36 6 88315054 88315054 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 88315054 88315054 A C SNP RARS2 NM_020320 human genbank 54_36p -1 reviewed missense c.425 p.V142G 1 "HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I" ############################################################################################################################################################################################################################################################### - no_errors RRAGD 58528 broad.mit.edu 36 6 90134616 90134616 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90134616 90134616 G A SNP RRAGD NM_021244 human genbank 54_36p -1 validated missense c.1081 p.R361W 1 HMMPfam_Gtr1_RagA "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Gtr1_RagA" - no_errors ANKRD6 22881 broad.mit.edu 36 6 90333529 90333529 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 90333529 90333529 A T SNP ANKRD6 NM_014942 human genbank 54_36p 1 validated missense c.115 p.T39S 1 superfamily_Ankyrin repeat "HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank" - no_errors ANKRD6 22881 broad.mit.edu 36 6 90380262 90380262 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90380262 90380262 C T SNP ANKRD6 NM_014942 human genbank 54_36p 1 validated missense c.547 p.R183C 1 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD6 22881 broad.mit.edu 36 6 90383054 90383054 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 90383054 90383054 A G SNP ANKRD6 NM_014942 human genbank 54_36p 1 validated missense c.671 p.K224R 0.98 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors MDN1 23195 broad.mit.edu 36 6 90425058 90425058 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90425058 90425058 G A SNP MDN1 NM_014611 human genbank 54_36p -1 provisional nonsense c.15013 p.Q5005* 0.95 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327" - no_errors MDN1 23195 broad.mit.edu 36 6 90437477 90437477 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 90437477 90437477 A T SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.13838 p.V4613D 1 NULL "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors MDN1 23195 broad.mit.edu 36 6 90439774 90439774 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90439774 90439774 A G SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.13376 p.L4459P 0.94 NULL "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors MDN1 23195 broad.mit.edu 36 6 90442620 90442620 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90442620 90442620 C G SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.12567 p.W4189C 1 NULL "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors MDN1 23195 broad.mit.edu 36 6 90474973 90474973 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90474973 90474973 C G SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.7861 p.D2621H 0.34 NULL "HMMSmart_SM00327,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_vWA-like" - no_errors CASP8AP2 9994 broad.mit.edu 36 6 90632438 90632438 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 90632438 90632438 C G SNP CASP8AP2 ENST00000237177 human ensembl 54_36p 1 known missense c.2708 p.S903C 0.71 NULL superfamily_Homeodomain-like - no_stop_codon BACH2 60468 broad.mit.edu 36 6 90699106 90699106 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 90699106 90699106 C T SNP BACH2 NM_021813 human genbank 54_36p -1 validated silent c.2268 p.A756 0.03 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_Euk_transcr_DNA,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors BACH2 60468 broad.mit.edu 36 6 90716963 90716963 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 90716963 90716963 T G SNP BACH2 NM_021813 human genbank 54_36p -1 validated missense c.1583 p.Y528S 1 NULL "HMMSmart_BTB,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,superfamily_Euk_transcr_DNA,superfamily_BTB/POZ_fold,HMMPfam_bZIP_1,HMMPfam_BTB" - no_errors MAP3K7 6885 broad.mit.edu 36 6 91335017 91335017 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 91335017 91335017 T C SNP MAP3K7 NM_145331 human genbank 54_36p -1 reviewed missense c.278 p.Y93C 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors EPHA7 2045 broad.mit.edu 36 6 94009931 94009931 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 94009931 94009931 G C SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.2931 p.I977M 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" ############################################################################################################################################################################################################################################################### - no_errors EPHA7 2045 broad.mit.edu 36 6 94031079 94031079 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 94031079 94031079 T C SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.1696 p.T566A 1 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHA7 2045 broad.mit.edu 36 6 94035998 94035998 + Silent SNP A A T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 94035998 94035998 A T SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed silent c.1551 p.A517 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors EPHA7 2045 broad.mit.edu 36 6 94038740 94038740 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 94038740 94038740 C A SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.1446 p.E482D 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors EPHA7 2045 broad.mit.edu 36 6 94177155 94177155 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 94177155 94177155 C A SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.617 p.W206L 1 PatternScan_RECEPTOR_TYR_KIN_V_1 ############################################################################################################################################################################################################################################################### - no_errors EPHA7 2045 broad.mit.edu 36 6 94177450 94177450 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 94177450 94177450 C T SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.322 p.D108N 1 "HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors FUT9 10690 broad.mit.edu 36 6 96758385 96758385 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 96758385 96758385 A C SNP FUT9 NM_006581 human genbank 54_36p 1 validated missense c.633 p.K211N 1 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 - no_errors KIAA0776 23376 broad.mit.edu 36 6 97095212 97095212 + Silent SNP T T C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 97095212 97095212 T C SNP KIAA0776 NM_015323 human genbank 54_36p 1 validated silent c.1239 p.S413 0.71 NULL HMMPfam_DUF2042 - no_errors FHL5 9457 broad.mit.edu 36 6 97158240 97158240 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 97158240 97158240 C A SNP FHL5 NM_020482 human genbank 54_36p 1 reviewed nonsense c.30 p.Y10* 1 superfamily_SSF57716 "superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors FHL5 9457 broad.mit.edu 36 6 97158346 97158346 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 97158346 97158346 A C SNP FHL5 NM_020482 human genbank 54_36p 1 reviewed missense c.136 p.K46Q 0.93 "HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716" "HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716" - no_errors GPR63 81491 broad.mit.edu 36 6 97353978 97353978 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 97353978 97353978 G A SNP GPR63 NM_030784 human genbank 54_36p -1 validated silent c.351 p.N117 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors KLHL32 114792 broad.mit.edu 36 6 97668765 97668765 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 97668765 97668765 A G SNP KLHL32 NM_052904 human genbank 54_36p 1 validated missense c.1013 p.H338R 1 "superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors C6orf168 84553 broad.mit.edu 36 6 99903814 99903814 + Silent SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 99903814 99903814 C G SNP C6orf168 NM_032511 human genbank 54_36p -1 validated silent c.156 p.G52 1 NULL "superfamily_Thioredoxin-like,HMMPfam_Tom37,superfamily_Glutathione S-transferase (GST) C-terminal domain" - no_errors SFRS18 25957 broad.mit.edu 36 6 99962842 99962842 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 99962842 99962842 C T SNP SFRS18 NM_015491 human genbank 54_36p -1 validated missense c.700 p.A234T 1 NULL NULL - no_errors USP45 85015 broad.mit.edu 36 6 100000796 100000796 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 100000796 100000796 C A SNP USP45 NM_001080481 human genbank 54_36p -1 provisional nonsense c.1573 p.G525* 0 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors MCHR2 84539 broad.mit.edu 36 6 100475619 100475619 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 100475619 100475619 T C SNP MCHR2 NM_001040179 human genbank 54_36p -1 validated missense c.941 p.Q314R 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ASCC3 10973 broad.mit.edu 36 6 101064638 101064638 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 101064638 101064638 T C SNP ASCC3 NM_006828 human genbank 54_36p -1 validated missense c.6352 p.I2118V 1 "HMMSmart_SEC63,HMMPfam_Sec63" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_AAA,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMSmart_SEC63,HMMPfam_Sec63" - no_errors ASCC3 10973 broad.mit.edu 36 6 101354981 101354981 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 101354981 101354981 G A SNP ASCC3 NM_006828 human genbank 54_36p -1 validated missense c.1043 p.A348V 1 NULL "HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_AAA,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_DEXDc,HMMSmart_SEC63,superfamily_SSF52540" - no_errors GRIK2 2898 broad.mit.edu 36 6 102372964 102372964 + Silent SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 102372964 102372964 C G SNP GRIK2 NM_021956 human genbank 54_36p 1 reviewed silent c.1230 p.G410 1 superfamily_Periplasmic binding protein-like I "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRIK2 2898 broad.mit.edu 36 6 102589990 102589990 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 102589990 102589990 G A SNP GRIK2 NM_021956 human genbank 54_36p 1 reviewed missense c.2167 p.E723K 1 "HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II" "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors GRIK2 2898 broad.mit.edu 36 6 102622979 102622979 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 102622979 102622979 A C SNP GRIK2 NM_021956 human genbank 54_36p 1 reviewed missense c.2627 p.K876T 1 NULL "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors HACE1 57531 broad.mit.edu 36 6 105387659 105387659 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 105387659 105387659 G A SNP HACE1 NM_020771 human genbank 54_36p -1 validated missense c.485 p.A162V 1 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors HACE1 57531 broad.mit.edu 36 6 105397853 105397853 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 105397853 105397853 T C SNP HACE1 NM_020771 human genbank 54_36p -1 validated missense c.340 p.M114V 1 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors LIN28B 389421 broad.mit.edu 36 6 105633035 105633035 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 105633035 105633035 C T SNP LIN28B NM_001004317 human genbank 54_36p 1 provisional missense c.437 p.P146L 1 superfamily_Retrovirus zinc finger-like domains "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors POPDC3 64208 broad.mit.edu 36 6 105713131 105713131 + Silent SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 105713131 105713131 C T SNP POPDC3 NM_022361 human genbank 54_36p -1 reviewed silent c.783 p.R261 0.88 NULL "HMMPfam_Popeye,superfamily_cAMP-binding domain-like" - no_errors PRDM1 639 broad.mit.edu 36 6 106659812 106659812 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 106659812 106659812 C T SNP PRDM1 NM_001198 human genbank 54_36p 1 reviewed missense c.976 p.P326S 0.91 NULL "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain,PatternScan_AA_TRNA_LIGASE_I,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors AIM1 202 broad.mit.edu 36 6 107074569 107074569 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 107074569 107074569 A C SNP AIM1 NM_001624 human genbank 54_36p 1 validated missense c.1569 p.E523D 0.01 NULL "superfamily_G_crystallin_SF,HMMSmart_XTALbg,HMMPfam_Crystall,superfamily_RicinB_like,HMMSmart_RICIN,HMMPfam_Ricin_B_lectin" - no_errors AIM1 202 broad.mit.edu 36 6 107074958 107074958 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 107074958 107074958 C G SNP AIM1 NM_001624 human genbank 54_36p 1 validated missense c.1958 p.P653R 0 NULL "HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_RicinB_like,superfamily_G_crystallin_SF" - no_errors AIM1 202 broad.mit.edu 36 6 107099204 107099204 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 107099204 107099204 G C SNP AIM1 NM_001624 human genbank 54_36p 1 validated missense c.3881 p.R1294T 0.98 "HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF" "HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_RicinB_like,superfamily_G_crystallin_SF" - no_errors BEND3 57673 broad.mit.edu 36 6 107497569 107497569 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 107497569 107497569 C T SNP BEND3 NM_001080450 human genbank 54_36p -1 provisional missense c.1519 p.D507N 1 NULL HMMPfam_BEN - no_errors BEND3 57673 broad.mit.edu 36 6 107526493 107526493 + Silent SNP C C G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 107526493 107526493 C G SNP BEND3 NM_001080450 human genbank 54_36p -1 provisional silent c.195 p.L65 0.02 NULL HMMPfam_BEN - no_errors PDSS2 57107 broad.mit.edu 36 6 107702082 107702082 + Silent SNP A A C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 107702082 107702082 A C SNP PDSS2 NM_020381 human genbank 54_36p -1 validated silent c.474 p.A158 1 superfamily_Terpenoid synthases superfamily_Terpenoid synthases - no_errors SCML4 256380 broad.mit.edu 36 6 108148650 108148650 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 108148650 108148650 G A SNP SCML4 NM_198081 human genbank 54_36p -1 validated missense c.836 p.P279L 1 NULL NULL - no_errors SCML4 256380 broad.mit.edu 36 6 108172975 108172975 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 108172975 108172975 C A SNP SCML4 NM_198081 human genbank 54_36p -1 validated missense c.466 p.V156F 1 NULL NULL - no_errors SCML4 256380 broad.mit.edu 36 6 108177686 108177686 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 108177686 108177686 G T SNP SCML4 NM_198081 human genbank 54_36p -1 validated missense c.94 p.P32T 1 NULL NULL - no_errors FOXO3 2309 broad.mit.edu 36 6 109091890 109091890 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 109091890 109091890 G T SNP FOXO3 NM_001455 human genbank 54_36p 1 reviewed missense c.1161 p.M387I 1 NULL "PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,superfamily_SSF46785,HMMSmart_FH,PatternScan_FORK_HEAD_2" - no_errors FOXO3 2309 broad.mit.edu 36 6 109092241 109092242 + Frame_Shift_Ins INS - C - novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 109092241 109092242 - C INS FOXO3 NM_001455 human genbank 54_36p 1 reviewed frame_shift_ins c.1512_1513 p.S504fs 1.000:1.000 NULL "PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,superfamily_SSF46785,HMMSmart_FH,PatternScan_FORK_HEAD_2" - no_errors MICAL1 64780 broad.mit.edu 36 6 109875077 109875077 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 109875077 109875077 G A SNP MICAL1 NM_022765 human genbank 54_36p -1 validated silent c.2119 p.L707 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors MICAL1 64780 broad.mit.edu 36 6 109875113 109875113 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 109875113 109875113 C T SNP MICAL1 NM_022765 human genbank 54_36p -1 validated missense c.2083 p.D695N 0.06 superfamily_Glucocorticoid receptor-like (DNA-binding domain) "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors ZBTB24 9841 broad.mit.edu 36 6 109903334 109903334 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 109903334 109903334 C A SNP ZBTB24 NM_014797 human genbank 54_36p -1 provisional missense c.1249 p.D417Y 1 "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_AT_hook,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FIG4 9896 broad.mit.edu 36 6 110224724 110224724 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 110224724 110224724 G T SNP FIG4 NM_014845 human genbank 54_36p 1 reviewed missense c.2523 p.R841S 0.3 NULL HMMPfam_Syja_N - no_errors DDO 8528 broad.mit.edu 36 6 110821006 110821006 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 110821006 110821006 C T SNP DDO NM_003649 human genbank 54_36p -1 reviewed missense c.775 p.V259I 0.56 "superfamily_Nucleotide-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain" "superfamily_Nucleotide-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain,PatternScan_DAO" - no_errors DDO 8528 broad.mit.edu 36 6 110836235 110836235 + Silent SNP T T C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 110836235 110836235 T C SNP DDO NM_003649 human genbank 54_36p -1 reviewed silent c.360 p.V120 0.88 "HMMPfam_DAO,superfamily_Nucleotide-binding domain" "HMMPfam_DAO,PatternScan_DAO,superfamily_Nucleotide-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors CDK19 23097 broad.mit.edu 36 6 111098373 111098373 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 111098373 111098373 T C SNP CDC2L6 NM_015076 human genbank 54_36p -1 reviewed missense c.269 p.D90G 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors KIAA1919 91749 broad.mit.edu 36 6 111691771 111691771 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 111691771 111691771 T A SNP KIAA1919 NM_153369 human genbank 54_36p 1 validated missense c.242 p.F81Y 0.98 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors KIAA1919 91749 broad.mit.edu 36 6 111694117 111694117 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 111694117 111694117 C T SNP KIAA1919 NM_153369 human genbank 54_36p 1 validated missense c.659 p.T220I 0.1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors REV3L 5980 broad.mit.edu 36 6 111844259 111844259 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 111844259 111844259 G C SNP REV3L NM_002912 human genbank 54_36p -1 validated missense c.249 p.I83M 1 superfamily_Ribonuclease H-like "superfamily_Ribonuclease H-like,HMMSmart_SM00486,HMMPfam_DNA_pol_B_exo,superfamily_DNA/RNA polymerases,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B" - no_errors TRAF3IP2 10758 broad.mit.edu 36 6 112008224 112008224 + Silent SNP C C T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 112008224 112008224 C T SNP TRAF3IP2 NM_147200 human genbank 54_36p -1 reviewed silent c.918 p.Q306 0.32 NULL HMMPfam_SEFIR - no_errors TRAF3IP2 10758 broad.mit.edu 36 6 112019369 112019369 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 112019369 112019369 T G SNP TRAF3IP2 NM_147200 human genbank 54_36p -1 reviewed missense c.641 p.D214A 1 NULL HMMPfam_SEFIR - no_errors TUBE1 51175 broad.mit.edu 36 6 112503940 112503940 + Silent SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 112503940 112503940 C T SNP TUBE1 NM_016262 human genbank 54_36p -1 reviewed silent c.705 p.K235 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors LAMA4 3910 broad.mit.edu 36 6 112613197 112613197 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 112613197 112613197 G A SNP LAMA4 NM_001105206 human genbank 54_36p -1 reviewed nonsense c.1012 p.Q338* 1 HMMPfam_Laminin_I "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_LAM_1,PatternScan_EGF_1,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" - no_errors FRK 2444 broad.mit.edu 36 6 116431764 116431764 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 116431764 116431764 A T SNP FRK NM_002031 human genbank 54_36p -1 reviewed missense c.435 p.S145R 1 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors DSE 29940 broad.mit.edu 36 6 116863562 116863566 + Frame_Shift_Del DEL CTTTC - CTTTC novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 CTTTC CTTTC - - CTTTC CTTTC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 116863562 116863566 CTTTC - DEL DSE NM_001080976 human genbank 54_36p 1 reviewed frame_shift_del c.1238_1242 p.S416fs 1.000:0.977:1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[116863443,116865201])" no_errors KPNA5 3841 broad.mit.edu 36 6 117117292 117117292 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 117117292 117117292 C A SNP KPNA5 NM_002269 human genbank 54_36p 1 reviewed missense c.121 p.Q41K 1 HMMPfam_IBB "HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors GPRC6A 222545 broad.mit.edu 36 6 117234278 117234278 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 117234278 117234278 T C SNP GPRC6A NM_148963 human genbank 54_36p -1 validated missense c.1283 p.D428G 0.97 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3" - no_errors GPRC6A 222545 broad.mit.edu 36 6 117237372 117237372 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 117237372 117237372 A T SNP GPRC6A NM_148963 human genbank 54_36p -1 validated missense c.296 p.I99N 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_Periplasmic binding protein-like I" - no_errors RFX6 222546 broad.mit.edu 36 6 117305175 117305175 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 117305175 117305175 A T SNP RFX6 NM_173560 human genbank 54_36p 1 provisional missense c.44 p.Q15L 0.96 NULL "HMMPfam_RFX_DNA_binding,superfamily_SSF46785" - no_errors ROS1 6098 broad.mit.edu 36 6 117771957 117771957 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 117771957 117771957 T C SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.4483 p.N1495D 0 HMMSmart_FN3 "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF63825,HMMSmart_LY,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors ROS1 6098 broad.mit.edu 36 6 117780972 117780972 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 117780972 117780972 T C SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.4195 p.I1399V 0.01 superfamily_SSF63825 "HMMSmart_LY,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF63825" - no_errors ROS1 6098 broad.mit.edu 36 6 117814749 117814749 + Silent SNP C C A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 117814749 117814749 C A SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed silent c.2121 p.V707 1 "HMMSmart_LY,superfamily_SSF63825" "HMMSmart_LY,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF63825" - no_errors FAM184A 79632 broad.mit.edu 36 6 119343135 119343135 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 119343135 119343135 G A SNP FAM184A NM_024581 human genbank 54_36p -1 validated missense c.2168 p.T723M 1 NULL NULL - no_errors GJA1 2697 broad.mit.edu 36 6 121810772 121810772 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 121810772 121810772 C A SNP GJA1 NM_000165 human genbank 54_36p 1 reviewed missense c.1080 p.D360E 1 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin43" - no_errors SERINC1 57515 broad.mit.edu 36 6 122819461 122819461 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 122819461 122819461 C G SNP SERINC1 NM_020755 human genbank 54_36p -1 provisional missense c.235 p.V79L 1 HMMPfam_Serinc HMMPfam_Serinc - no_errors SMPDL3A 10924 broad.mit.edu 36 6 123159671 123159671 + Silent SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 123159671 123159671 T C SNP SMPDL3A NM_006714 human genbank 54_36p 1 validated silent c.330 p.D110 1 "HMMPfam_Metallophos,superfamily_SSF56300" "HMMPfam_Metallophos,superfamily_SSF56300" - no_errors CLVS2 134829 broad.mit.edu 36 6 123360735 123360735 + Silent SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 123360735 123360735 C T SNP RLBP1L2 NM_001010852 human genbank 54_36p 1 provisional silent c.114 p.V38 1 "superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N" "superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL/TRIO domain,HMMSmart_SM00516,PatternScan_SUGAR_TRANSPORT_1" - no_errors TRDN 10345 broad.mit.edu 36 6 123933775 123933775 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 123933775 123933775 T A SNP TRDN NM_006073 human genbank 54_36p -1 validated missense c.224 p.N75I 1 HMMPfam_Triadin HMMPfam_Triadin - no_errors NCOA7 135112 broad.mit.edu 36 6 126278190 126278190 + Silent SNP A A C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 126278190 126278190 A C SNP NCOA7 NM_181782 human genbank 54_36p 1 validated silent c.2115 p.T705 0.61 NULL "superfamily_LysM domain,HMMSmart_SM00257,HMMPfam_LysM,HMMPfam_GRAM,HMMSmart_SM00584,HMMPfam_TLD" - no_errors KIAA0408 9729 broad.mit.edu 36 6 127809856 127809856 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 127809856 127809856 C T SNP KIAA0408 NM_014702 human genbank 54_36p -1 validated missense c.1301 p.R434K 0.68 NULL NULL - no_errors C6orf174 387104 broad.mit.edu 36 6 127838890 127838890 + Silent SNP C C G novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 127838890 127838890 C G SNP C6orf174 NM_001012279 human genbank 54_36p -1 validated silent c.1974 p.L658 1 NULL NULL - no_errors C6orf174 387104 broad.mit.edu 36 6 127838893 127838893 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 127838893 127838893 C T SNP C6orf174 NM_001012279 human genbank 54_36p -1 validated silent c.1971 p.E657 1 NULL NULL - no_errors C6orf174 387104 broad.mit.edu 36 6 127839177 127839178 + Missense_Mutation DNP AG AG TA novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 127839177 127839178 AG TA DNP C6orf174 NM_001012279 human genbank 54_36p -1 validated missense c.1687_1686 p.F563I 1.000:0.991 NULL NULL - no_errors THEMIS 387357 broad.mit.edu 36 6 128192473 128192473 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 128192473 128192473 G C SNP C6orf190 NM_001010923 human genbank 54_36p -1 validated missense c.550 p.L184V 1 NULL NULL - no_errors PTPRK 5796 broad.mit.edu 36 6 128339861 128339861 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 6 128339861 128339861 G T SNP PTPRK NM_002844 human genbank 54_36p -1 validated missense c.3743 p.T1248K 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 broad.mit.edu 36 6 129246100 129246100 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 129246100 129246100 G T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.17 p.G6V 0 NULL ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 broad.mit.edu 36 6 129683414 129683414 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 129683414 129683414 G T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.4097 p.R1366L 0 "HMMPfam_Laminin_B,superfamily_ConA_like_lec_gl" ############################################################################################################################################################################################################################################################### - no_errors LAMA2 3908 broad.mit.edu 36 6 129854834 129854834 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 129854834 129854834 C T SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.7994 p.A2665V 0.27 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1" ############################################################################################################################################################################################################################################################### - no_errors ARHGAP18 93663 broad.mit.edu 36 6 129946930 129946930 + Silent SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 129946930 129946930 C G SNP ARHGAP18 NM_033515 human genbank 54_36p -1 validated silent c.1734 p.V578 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP18 93663 broad.mit.edu 36 6 130001292 130001292 + Frame_Shift_Del DEL T - T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 130001292 130001292 T - DEL ARHGAP18 NM_033515 human genbank 54_36p -1 validated frame_shift_del c.492 p.K164fs 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "(deletion:cds_exon[130001232,130001467])" no_errors L3MBTL3 84456 broad.mit.edu 36 6 130431218 130431218 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 130431218 130431218 G T SNP L3MBTL3 NM_032438 human genbank 54_36p 1 validated missense c.1051 p.A351S 1 "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561" "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_CCHHC domain,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors L3MBTL3 84456 broad.mit.edu 36 6 130502489 130502518 + In_Frame_Del DEL CATTGTTAAAATTATGAGCATTAAACTGGG - CATTGTTAAAATTATGAGCATTAAACTGGG novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D CATTGTTAAAATTATGAGCATTAAACTGGG CATTGTTAAAATTATGAGCATTAAACTGGG - - CATTGTTAAAATTATGAGCATTAAACTGGG CATTGTTAAAATTATGAGCATTAAACTGGG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 130502489 130502518 CATTGTTAAAATTATGAGCATTAAACTGGG - DEL L3MBTL3 NM_032438 human genbank 54_36p 1 validated in_frame_del c.2241_2270 p.IVKIMSIKLG748in_frame_del 1.000:1.000:1.000:0.997:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.992:1.000:1.000:1.000:1.000 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_CCHHC domain,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" "(deletion:cds_exon[130502448,130502591])" no_errors SAMD3 154075 broad.mit.edu 36 6 130517702 130517702 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 130517702 130517702 G C SNP SAMD3 NM_001017373 human genbank 54_36p -1 validated missense c.984 p.D328E 0.96 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors SAMD3 154075 broad.mit.edu 36 6 130517856 130517856 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 130517856 130517856 G A SNP SAMD3 NM_001017373 human genbank 54_36p -1 validated missense c.830 p.A277V 0 NULL "HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain" - no_errors TMEM200A 114801 broad.mit.edu 36 6 130804293 130804293 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 130804293 130804293 C G SNP TMEM200A NM_052913 human genbank 54_36p 1 provisional missense c.1033 p.L345V 0.28 NULL HMMPfam_DUF2371 - no_errors AKAP7 9465 broad.mit.edu 36 6 131532090 131532090 + Silent SNP A A T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 131532090 131532090 A T SNP AKAP7 NM_016377 human genbank 54_36p 1 reviewed silent c.507 p.S169 0.08 "HMMPfam_AKAP7_NLS,superfamily_LigT-like" "HMMPfam_AKAP7_NLS,superfamily_LigT-like,HMMPfam_AKAP7_RIRII_bdg" - no_errors ARG1 383 broad.mit.edu 36 6 131939508 131939508 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 131939508 131939508 G T SNP ARG1 NM_000045 human genbank 54_36p 1 reviewed missense c.70 p.V24L 1 "HMMPfam_Arginase,superfamily_Arginase/deacetylase" "HMMPfam_Arginase,superfamily_Arginase/deacetylase,PatternScan_ARGINASE_1,PatternScan_ARGINASE_2,PatternScan_ARGINASE_3" - no_errors MED23 9439 broad.mit.edu 36 6 131950541 131950541 + Splice_Site SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 131950541 131950541 C T SNP MED23 NM_015979 human genbank 54_36p -1 reviewed splice_site c.4095+1 e30+1 1 - - - no_errors MED23 9439 broad.mit.edu 36 6 131958997 131958997 + Splice_Site SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 131958997 131958997 C G SNP MED23 NM_004830 human genbank 54_36p -1 reviewed splice_site c.2779-1 e22-1 1 - - - no_errors OR2A4 79541 broad.mit.edu 36 6 132064162 132064162 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 132064162 132064162 G A SNP OR2A4 NM_030908 human genbank 54_36p -1 provisional missense c.73 p.L25F 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors ENPP3 5169 broad.mit.edu 36 6 132089031 132089031 + Silent SNP T T C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 132089031 132089031 T C SNP ENPP3 NM_005021 human genbank 54_36p 1 reviewed silent c.1951 p.L651 0.01 "superfamily_SSF54060,HMMSmart_NUC" "HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest,superfamily_SSF54060,HMMSmart_NUC" - no_errors TAAR8 83551 broad.mit.edu 36 6 132915641 132915641 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 132915641 132915641 C T SNP TAAR8 NM_053278 human genbank 54_36p 1 provisional silent c.117 p.S39 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TAAR6 319100 broad.mit.edu 36 6 132933337 132933337 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 132933337 132933337 C A SNP TAAR6 NM_175067 human genbank 54_36p 1 provisional missense c.184 p.Q62K 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TAAR2 9287 broad.mit.edu 36 6 132980498 132980498 + Silent SNP G G A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 132980498 132980498 G A SNP TAAR2 NM_001033080 human genbank 54_36p -1 validated silent c.540 p.F180 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors VNN1 8876 broad.mit.edu 36 6 133045988 133045988 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 133045988 133045988 C G SNP VNN1 NM_004666 human genbank 54_36p -1 reviewed missense c.1526 p.C509S 0 NULL "superfamily_Ntlse/CNhydtse,HMMPfam_CN_hydrolase" - no_errors VNN1 8876 broad.mit.edu 36 6 133046083 133046083 + Silent SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 133046083 133046083 C T SNP VNN1 NM_004666 human genbank 54_36p -1 reviewed silent c.1431 p.G477 1 NULL "HMMPfam_CN_hydrolase,superfamily_Ntlse/CNhydtse" - no_errors VNN1 8876 broad.mit.edu 36 6 133046139 133046139 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 133046139 133046139 G C SNP VNN1 NM_004666 human genbank 54_36p -1 reviewed missense c.1375 p.R459G 0.99 NULL "HMMPfam_CN_hydrolase,superfamily_Ntlse/CNhydtse" - no_errors TCF21 6943 broad.mit.edu 36 6 134252467 134252467 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 134252467 134252467 A C SNP TCF21 NM_003206 human genbank 54_36p 1 reviewed missense c.239 p.Q80P 1 "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH" "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors SLC2A12 154091 broad.mit.edu 36 6 134391675 134391675 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 134391675 134391675 C G SNP SLC2A12 NM_145176 human genbank 54_36p -1 validated missense c.981 p.K327N 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1" - no_errors SGK1 6446 broad.mit.edu 36 6 134533197 134533197 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 134533197 134533197 T C SNP SGK1 NM_005627 human genbank 54_36p -1 reviewed missense c.1198 p.K400E 1 "HMMSmart_SM00133,HMMPfam_Pkinase_C" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C" - no_errors ALDH8A1 64577 broad.mit.edu 36 6 135281568 135281568 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 135281568 135281568 A C SNP ALDH8A1 NM_022568 human genbank 54_36p -1 reviewed missense c.1142 p.I381S 1 "superfamily_ALDH-like,HMMPfam_Aldedh" "superfamily_ALDH-like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors ALDH8A1 64577 broad.mit.edu 36 6 135295636 135295636 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 135295636 135295636 C G SNP ALDH8A1 NM_022568 human genbank 54_36p -1 reviewed missense c.820 p.A274P 0.54 "HMMPfam_Aldedh,superfamily_ALDH-like" "HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_ALDH-like" - no_errors AHI1 54806 broad.mit.edu 36 6 135829182 135829182 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 135829182 135829182 A G SNP AHI1 NM_017651 human genbank 54_36p -1 reviewed missense c.212 p.L71P 0.96 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors PDE7B 27115 broad.mit.edu 36 6 136517000 136517000 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 136517000 136517000 G T SNP PDE7B NM_018945 human genbank 54_36p 1 validated missense c.573 p.E191D 1 "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I" "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors IL20RA 53832 broad.mit.edu 36 6 137364605 137364605 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 137364605 137364605 C T SNP IL20RA NM_014432 human genbank 54_36p -1 reviewed nonsense c.1445 p.W482* 1 NULL "HMMPfam_IL10Ra-bind,superfamily_Fibronectin type III" - no_errors IL20RA 53832 broad.mit.edu 36 6 137364667 137364667 + Silent SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 137364667 137364667 C T SNP IL20RA NM_014432 human genbank 54_36p -1 reviewed silent c.1383 p.A461 0 NULL "superfamily_Fibronectin type III,HMMPfam_IL10Ra-bind" - no_errors OLIG3 167826 broad.mit.edu 36 6 137856904 137856904 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 137856904 137856904 G T SNP OLIG3 NM_175747 human genbank 54_36p -1 provisional missense c.97 p.Q33K 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors TNFAIP3 7128 broad.mit.edu 36 6 138241536 138241536 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 138241536 138241536 C G SNP TNFAIP3 NM_006290 human genbank 54_36p 1 reviewed missense c.1261 p.L421V 0.17 NULL "HMMPfam_OTU,HMMPfam_zf-A20,HMMSmart_ZnF_A20" - no_errors TNFAIP3 7128 broad.mit.edu 36 6 138244103 138244103 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 138244103 138244103 A G SNP TNFAIP3 NM_006290 human genbank 54_36p 1 reviewed missense c.2327 p.N776S 0.94 "HMMPfam_zf-A20,HMMSmart_ZnF_A20" "HMMPfam_zf-A20,HMMSmart_ZnF_A20,HMMPfam_OTU" - no_errors KIAA1244 57221 broad.mit.edu 36 6 138572856 138572856 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 138572856 138572856 G T SNP KIAA1244 NM_020340 human genbank 54_36p 1 validated missense c.336 p.Q112H 1 NULL "HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors KIAA1244 57221 broad.mit.edu 36 6 138697573 138697573 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 138697573 138697573 G A SNP KIAA1244 NM_020340 human genbank 54_36p 1 validated missense c.5897 p.R1966K 0.97 NULL "HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors TXLNB 167838 broad.mit.edu 36 6 139605515 139605515 + Silent SNP A A G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 139605515 139605515 A G SNP TXLNB NM_153235 human genbank 54_36p -1 validated silent c.1896 p.A632 0 NULL HMMPfam_Taxilin - no_errors NMBR 4829 broad.mit.edu 36 6 142451184 142451184 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 142451184 142451184 G A SNP NMBR NM_002511 human genbank 54_36p -1 validated missense c.305 p.S102L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HIVEP2 3097 broad.mit.edu 36 6 143135840 143135840 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 143135840 143135840 A G SNP HIVEP2 NM_006734 human genbank 54_36p -1 provisional missense c.1729 p.F577L 1 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors HIVEP2 3097 broad.mit.edu 36 6 143137420 143137420 + Missense_Mutation SNP A A G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 143137420 143137420 A G SNP HIVEP2 NM_006734 human genbank 54_36p -1 provisional missense c.149 p.I50T 0.48 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors AIG1 51390 broad.mit.edu 36 6 143423879 143423879 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 143423879 143423879 C G SNP AIG1 NM_016108 human genbank 54_36p 1 validated missense c.124 p.L42V 1 HMMPfam_Far-17a_AIG1 HMMPfam_Far-17a_AIG1 - no_errors PHACTR2 9749 broad.mit.edu 36 6 144128261 144128261 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 144128261 144128261 C T SNP PHACTR2 NM_001100164 human genbank 54_36p 1 validated missense c.865 p.H289Y 0.04 NULL "HMMPfam_RPEL,HMMSmart_SM00707" - no_errors PHACTR2 9749 broad.mit.edu 36 6 144136913 144136913 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 144136913 144136913 G A SNP PHACTR2 NM_001100164 human genbank 54_36p 1 validated missense c.1457 p.R486Q 0.99 NULL "HMMPfam_RPEL,HMMSmart_SM00707" - no_errors LTV1 84946 broad.mit.edu 36 6 144208937 144208937 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 144208937 144208937 C T SNP LTV1 NM_032860 human genbank 54_36p 1 provisional silent c.192 p.D64 1 HMMPfam_LTV HMMPfam_LTV - no_errors LTV1 84946 broad.mit.edu 36 6 144212980 144212980 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 144212980 144212980 C A SNP LTV1 NM_032860 human genbank 54_36p 1 provisional missense c.329 p.P110H 1 HMMPfam_LTV HMMPfam_LTV - no_errors STX11 8676 broad.mit.edu 36 6 144549920 144549920 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 144549920 144549920 G A SNP STX11 NM_003764 human genbank 54_36p 1 reviewed missense c.463 p.D155N 1 "HMMSmart_SynN,superfamily_t-snare" "HMMPfam_Syntaxin,HMMSmart_SynN,superfamily_t-snare,HMMSmart_t_SNARE,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors UTRN 7402 broad.mit.edu 36 6 144814287 144814287 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 144814287 144814287 A G SNP UTRN NM_007124 human genbank 54_36p 1 reviewed missense c.2161 p.M721V 1 "HMMSmart_SPEC,superfamily_Spectrin" ############################################################################################################################################################################################################################################################### - no_errors UTRN 7402 broad.mit.edu 36 6 144825491 144825491 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 144825491 144825491 T G SNP UTRN NM_007124 human genbank 54_36p 1 reviewed missense c.2862 p.D954E 1 "HMMSmart_SPEC,superfamily_Spectrin" ############################################################################################################################################################################################################################################################### - no_errors UTRN 7402 broad.mit.edu 36 6 145199306 145199306 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 145199306 145199306 T C SNP UTRN NM_007124 human genbank 54_36p 1 reviewed missense c.10001 p.I3334T 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SHPRH 257218 broad.mit.edu 36 6 146297896 146297897 + Missense_Mutation DNP CC CC AT novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 146297896 146297897 CC AT DNP SHPRH NM_001042683 human genbank 54_36p -1 validated missense c.2830_2829 p.D944Y 1.000:1.000 NULL ############################################################################################################################################################################################################################################################### - no_errors SHPRH 257218 broad.mit.edu 36 6 146297985 146297985 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 146297985 146297985 A C SNP SHPRH NM_001042683 human genbank 54_36p -1 validated missense c.2741 p.I914R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SHPRH 257218 broad.mit.edu 36 6 146306061 146306061 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 146306061 146306061 C T SNP SHPRH NM_001042683 human genbank 54_36p -1 validated missense c.2149 p.A717T 1 "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors GRM1 2911 broad.mit.edu 36 6 146392580 146392580 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 146392580 146392580 G T SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed missense c.234 p.R78S 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg" - no_errors GRM1 2911 broad.mit.edu 36 6 146393018 146393018 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 146393018 146393018 G T SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed missense c.672 p.W224C 1 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg,superfamily_SSF53822" - no_errors GRM1 2911 broad.mit.edu 36 6 146797326 146797326 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 146797326 146797326 G A SNP GRM1 NM_000838 human genbank 54_36p 1 reviewed missense c.3286 p.D1096N 0.99 NULL "HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg,superfamily_SSF53822" - no_errors UST 10090 broad.mit.edu 36 6 149327285 149327285 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 149327285 149327285 G A SNP UST NM_005715 human genbank 54_36p 1 validated missense c.574 p.V192I 1 HMMPfam_HS2ST HMMPfam_HS2ST - no_errors LATS1 9113 broad.mit.edu 36 6 150024892 150024892 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 150024892 150024892 C G SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed missense c.3059 p.R1020T 1 superfamily_Protein kinase-like (PK-like) "superfamily_UBA-like,HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C" - no_errors LATS1 9113 broad.mit.edu 36 6 150043055 150043055 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 150043055 150043055 C T SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed missense c.2242 p.A748T 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMPfam_UBA,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_UBA-like,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors LATS1 9113 broad.mit.edu 36 6 150043217 150043217 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 150043217 150043217 G A SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed missense c.2080 p.R694C 1 superfamily_Protein kinase-like (PK-like) "HMMPfam_UBA,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_UBA-like,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors LATS1 9113 broad.mit.edu 36 6 150064723 150064723 + Frame_Shift_Del DEL A - A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 150064723 150064723 A - DEL LATS1 NM_004690 human genbank 54_36p -1 reviewed frame_shift_del c.233 p.L78fs 1 NULL "superfamily_UBA-like,HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C" "(deletion:cds_exon[150064608,150064955])" no_errors RAET1L 154064 broad.mit.edu 36 6 150384998 150384998 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 150384998 150384998 C T SNP RAET1L NM_130900 human genbank 54_36p -1 validated missense c.160 p.G54S 0.06 superfamily_MHC_I/II-like_Ag-recog "PatternScan_IG_MHC,superfamily_MHC_I/II-like_Ag-recog,HMMPfam_MHC_I" - no_errors IYD 389434 broad.mit.edu 36 6 150732019 150732019 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 150732019 150732019 C A SNP IYD NM_203395 human genbank 54_36p 1 validated missense c.159 p.D53E 0.03 NULL "superfamily_FMN-dependent nitroreductase-like,HMMPfam_Nitroreductase" - no_errors PLEKHG1 57480 broad.mit.edu 36 6 151096881 151096881 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 151096881 151096881 C A SNP PLEKHG1 NM_001029884 human genbank 54_36p 1 provisional missense c.371 p.T124N 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PLEKHG1 57480 broad.mit.edu 36 6 151194350 151194350 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 151194350 151194350 C A SNP PLEKHG1 NM_001029884 human genbank 54_36p 1 provisional missense c.2410 p.P804T 0 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors AKAP12 9590 broad.mit.edu 36 6 151714981 151714981 + Silent SNP T T G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 151714981 151714981 T G SNP AKAP12 NM_005100 human genbank 54_36p 1 reviewed silent c.3762 p.T1254 0 NULL "HMMPfam_WSK,HMMPfam_RII_binding_1" - no_errors SYNE1 23345 broad.mit.edu 36 6 152596620 152596620 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 152596620 152596620 T C SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.20701 p.K6901E 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 broad.mit.edu 36 6 152599766 152599766 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 152599766 152599766 T C SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.20078 p.H6693R 0.87 superfamily_Spectrin repeat "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 broad.mit.edu 36 6 152632074 152632074 + Missense_Mutation SNP G G T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 152632074 152632074 G T SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.18614 p.T6205K 0 HMMSmart_SM00150 "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 broad.mit.edu 36 6 152693389 152693389 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 152693389 152693389 C A SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.14124 p.E4708D 0.99 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 broad.mit.edu 36 6 152699818 152699819 + Missense_Mutation DNP TC TC AT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 152699818 152699819 TC AT DNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.12379_12378 p.N4127Y 1.000:1.000 superfamily_Spectrin repeat "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SYNE1 23345 broad.mit.edu 36 6 152818386 152818386 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 152818386 152818386 C G SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.2760 p.K920N 0.99 superfamily_Spectrin repeat "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors OPRM1 4988 broad.mit.edu 36 6 154452831 154452831 + Silent SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 154452831 154452831 C T SNP OPRM1 NM_001008505 human genbank 54_36p 1 validated silent c.468 p.S156 1 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors IPCEF1 26034 broad.mit.edu 36 6 154628743 154628743 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 154628743 154628743 C T SNP IPCEF1 NM_015553 human genbank 54_36p -1 validated missense c.31 p.A11T 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors TIAM2 26230 broad.mit.edu 36 6 155492131 155492131 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 155492131 155492131 T G SNP TIAM2 NM_012454 human genbank 54_36p 1 reviewed missense c.82 p.C28G 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00455,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1" - no_errors TIAM2 26230 broad.mit.edu 36 6 155492947 155492947 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 155492947 155492947 C T SNP TIAM2 NM_012454 human genbank 54_36p 1 reviewed missense c.898 p.R300W 0.98 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00455,superfamily_PH domain-like" - no_errors TIAM2 26230 broad.mit.edu 36 6 155500014 155500014 + Silent SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 155500014 155500014 C A SNP TIAM2 NM_012454 human genbank 54_36p 1 reviewed silent c.1206 p.S402 1 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00455,superfamily_PH domain-like" - no_errors TIAM2 26230 broad.mit.edu 36 6 155608487 155608487 + Silent SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 155608487 155608487 C T SNP TIAM2 NM_012454 human genbank 54_36p 1 reviewed silent c.3582 p.Y1194 0.98 "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00455,superfamily_PH domain-like" - no_errors TULP4 56995 broad.mit.edu 36 6 158830742 158830742 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 158830742 158830742 A G SNP TULP4 NM_020245 human genbank 54_36p 1 validated missense c.1621 p.K541E 1 superfamily_Transcriptional factor tubby C-terminal domain "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,superfamily_TNF-like,HMMPfam_SOCS_box,superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub" - no_errors TMEM181 57583 broad.mit.edu 36 6 158914445 158914445 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 158914445 158914445 C T SNP TMEM181 NM_020823 human genbank 54_36p 1 validated missense c.425 p.A142V 1 NULL NULL - no_errors SYTL3 94120 broad.mit.edu 36 6 159006487 159006487 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 159006487 159006487 G C SNP SYTL3 NM_001009991 human genbank 54_36p 1 validated missense c.183 p.K61N 1 superfamily_FYVE/PHD zinc finger "superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors RSPH3 83861 broad.mit.edu 36 6 159321911 159321911 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 159321911 159321911 C T SNP RSPH3 NM_031924 human genbank 54_36p -1 validated missense c.1168 p.E390K 1 HMMPfam_Radial_spoke_3 HMMPfam_Radial_spoke_3 - no_errors RSPH3 83861 broad.mit.edu 36 6 159340871 159340871 + Silent SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 159340871 159340871 G C SNP RSPH3 NM_031924 human genbank 54_36p -1 validated silent c.126 p.P42 0 NULL HMMPfam_Radial_spoke_3 - no_errors TAGAP 117289 broad.mit.edu 36 6 159379141 159379141 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 159379141 159379141 G T SNP TAGAP NM_054114 human genbank 54_36p -1 reviewed missense c.891 p.D297E 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors FNDC1 84624 broad.mit.edu 36 6 159574023 159574023 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 159574023 159574023 G T SNP FNDC1 NM_032532 human genbank 54_36p 1 validated missense c.2489 p.R830M 0.02 NULL "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors PNLDC1 154197 broad.mit.edu 36 6 160160303 160160303 + Silent SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 160160303 160160303 G C SNP PNLDC1 NM_173516 human genbank 54_36p 1 provisional silent c.1428 p.R476 0.04 NULL "superfamily_Ribonuclease H-like,HMMPfam_CAF1" - no_errors MAS1 4142 broad.mit.edu 36 6 160248035 160248035 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 160248035 160248035 G T SNP MAS1 NM_002377 human genbank 54_36p 1 reviewed missense c.58 p.G20C 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors IGF2R 3482 broad.mit.edu 36 6 160430178 160430178 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 160430178 160430178 G A SNP IGF2R NM_000876 human genbank 54_36p 1 reviewed missense c.6370 p.A2124T 1 "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR" "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1" - no_errors LPA 4018 broad.mit.edu 36 6 160897179 160897179 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 160897179 160897179 C T SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.4841 p.R1614Q 0.78 "superfamily_Kringle-like,HMMSmart_SM00130" "superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors LPA 4018 broad.mit.edu 36 6 160935006 160935006 + Silent SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 160935006 160935006 C T SNP LPA NM_005577 human genbank 54_36p -1 validated silent c.3603 p.Q1201 0.02 "HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like" "HMMPfam_Kringle,HMMSmart_SM00130,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors AGPAT4 56895 broad.mit.edu 36 6 161507297 161507297 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 161507297 161507297 G C SNP AGPAT4 NM_020133 human genbank 54_36p -1 reviewed missense c.321 p.S107R 1 "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" - no_errors QKI 9444 broad.mit.edu 36 6 163904617 163904617 + Silent SNP A A T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 163904617 163904617 A T SNP QKI NM_006775 human genbank 54_36p 1 validated silent c.810 p.P270 0.91 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors PDE10A 10846 broad.mit.edu 36 6 165726274 165726274 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 165726274 165726274 A C SNP PDE10A NM_006661 human genbank 54_36p -1 validated missense c.1477 p.F493V 1 superfamily_HD-domain/PDEase-like "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDE10A 10846 broad.mit.edu 36 6 165747019 165747019 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 165747019 165747019 A C SNP PDE10A NM_006661 human genbank 54_36p -1 validated missense c.1208 p.M403R 1 "HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like" "HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMPfam_GAF,HMMSmart_SM00065,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like,superfamily_GAF domain-like" - no_errors PDE10A 10846 broad.mit.edu 36 6 165763777 165763777 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 6 165763777 165763777 A T SNP PDE10A NM_006661 human genbank 54_36p -1 validated missense c.761 p.L254H 1 superfamily_GAF domain-like "HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMPfam_GAF,HMMSmart_SM00065,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like,superfamily_GAF domain-like" - no_errors T 6862 broad.mit.edu 36 6 166491851 166491851 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 166491851 166491851 G A SNP T NM_003181 human genbank 54_36p -1 reviewed missense c.1250 p.A417V 0.99 NULL "HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TTLL2 83887 broad.mit.edu 36 6 167674346 167674346 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 167674346 167674346 C T SNP TTLL2 NM_031949 human genbank 54_36p 1 validated missense c.968 p.T323M 1 "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors KIF25 3834 broad.mit.edu 36 6 168173123 168173123 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 168173123 168173123 G T SNP KIF25 NM_030615 human genbank 54_36p 1 reviewed missense c.9 p.W3C 0 HMMPfam_Kinesin "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors THBS2 7058 broad.mit.edu 36 6 169390480 169390480 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 169390480 169390480 C G SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed missense c.566 p.R189P 1 "HMMSmart_TSPN,superfamily_ConA_like_lec_gl" ############################################################################################################################################################################################################################################################### - no_errors THBS2 7058 broad.mit.edu 36 6 169390614 169390614 + Silent SNP C C T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 6 169390614 169390614 C T SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed silent c.432 p.L144 1 "HMMSmart_TSPN,superfamily_ConA_like_lec_gl" ############################################################################################################################################################################################################################################################### - no_errors THBS2 7058 broad.mit.edu 36 6 169390750 169390750 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 6 169390750 169390750 G A SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed missense c.296 p.T99M 1 "HMMSmart_TSPN,superfamily_ConA_like_lec_gl" ############################################################################################################################################################################################################################################################### - no_errors THBS2 7058 broad.mit.edu 36 6 169392752 169392752 + Splice_Site SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 169392752 169392752 C T SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed splice_site c.52+1 e1+1 0.89 - - - no_errors WDR27 253769 broad.mit.edu 36 6 169801541 169801541 + Splice_Site SNP T T G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 169801541 169801541 T G SNP WDR27 NM_182552 human genbank 54_36p -1 validated splice_site c.1130-2 e10-2 0.15 - - - no_errors C6orf70 55780 broad.mit.edu 36 6 169910191 169910191 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 169910191 169910191 T C SNP C6orf70 NM_018341 human genbank 54_36p 1 validated missense c.1058 p.M353T 0.99 NULL NULL - no_errors PSMB1 5689 broad.mit.edu 36 6 170688290 170688290 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 170688290 170688290 C G SNP PSMB1 NM_002793 human genbank 54_36p -1 reviewed missense c.497 p.G166A 1 "superfamily_SSF56235,HMMPfam_Proteasome" "superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors HEATR2 54919 broad.mit.edu 36 7 776749 776749 + Silent SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 776749 776749 G A SNP HEATR2 NM_017802 human genbank 54_36p 1 validated silent c.1899 p.L633 0.99 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors HEATR2 54919 broad.mit.edu 36 7 791754 791754 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 791754 791754 C A SNP HEATR2 NM_017802 human genbank 54_36p 1 validated missense c.2506 p.R836S 0.99 NULL "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors GPER 2852 broad.mit.edu 36 7 1098327 1098327 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 1098327 1098327 T A SNP GPER NM_001039966 human genbank 54_36p 1 reviewed missense c.437 p.F146Y 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MICALL2 79778 broad.mit.edu 36 7 1442910 1442910 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 1442910 1442910 C G SNP MICALL2 NM_182924 human genbank 54_36p -1 validated missense c.2585 p.R862P 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors MICALL2 79778 broad.mit.edu 36 7 1454828 1454828 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 1454828 1454828 C G SNP MICALL2 NM_182924 human genbank 54_36p -1 validated missense c.288 p.L96F 0.98 "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Calponin-homology domain CH-domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors INTS1 26173 broad.mit.edu 36 7 1491584 1491586 + In_Frame_Del DEL CTC - CTC novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 CTC CTC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 1491584 1491586 CTC - DEL INTS1 NM_001080453 human genbank 54_36p -1 validated in_frame_del c.3471_3469 p.E1157in_frame_del 0.999:1.000:1.000 NULL PatternScan_ACTININ_1 "(deletion:cds_exon[1491452,1491688])" no_errors MAD1L1 8379 broad.mit.edu 36 7 2222320 2222320 + Silent SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 2222320 2222320 C A SNP MAD1L1 NM_001013836 human genbank 54_36p -1 reviewed silent c.807 p.L269 0.99 HMMPfam_MAD HMMPfam_MAD - no_errors EIF3B 8662 broad.mit.edu 36 7 2375837 2375837 + Silent SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 2375837 2375837 C T SNP EIF3B NM_001037283 human genbank 54_36p 1 validated silent c.1608 p.G536 0.85 "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_eIF2A" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_eIF2A" - no_errors LFNG 3955 broad.mit.edu 36 7 2533042 2533043 + Missense_Mutation DNP AC AC CA novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 2533042 2533043 AC CA DNP LFNG NM_001040167 human genbank 54_36p 1 reviewed missense c.1034_1035 p.H345P 0.976:0.948 HMMPfam_Fringe HMMPfam_Fringe - no_errors IQCE 23288 broad.mit.edu 36 7 2596247 2596247 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 2596247 2596247 G A SNP IQCE NM_152558 human genbank 54_36p 1 validated missense c.1225 p.E409K 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" - no_errors CARD11 84433 broad.mit.edu 36 7 2921464 2921464 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 2921464 2921464 C T SNP CARD11 NM_032415 human genbank 54_36p -1 validated silent c.2772 p.G924 0.66 NULL "PatternScan_GUANYLATE_KINASE_1,superfamily_DEATH_like,HMMPfam_CARD,superfamily_PDZ,HMMSmart_PDZ,superfamily_SSF52540" - no_errors CARD11 84433 broad.mit.edu 36 7 2928911 2928911 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 2928911 2928911 A C SNP CARD11 NM_032415 human genbank 54_36p -1 validated missense c.2152 p.C718G 1 "HMMSmart_PDZ,superfamily_PDZ" "HMMPfam_CARD,HMMSmart_PDZ,superfamily_PDZ,superfamily_DEATH_like,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540" - no_errors CARD11 84433 broad.mit.edu 36 7 2934793 2934793 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 2934793 2934793 G A SNP CARD11 NM_032415 human genbank 54_36p -1 validated silent c.1719 p.I573 0.94 NULL "HMMPfam_CARD,HMMSmart_PDZ,superfamily_PDZ,superfamily_DEATH_like,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540" - no_errors SDK1 221935 broad.mit.edu 36 7 3958009 3958009 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 3958009 3958009 G T SNP SDK1 NM_152744 human genbank 54_36p 1 validated missense c.1081 p.V361F 0.97 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors SDK1 221935 broad.mit.edu 36 7 4017140 4017140 + Silent SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 4017140 4017140 G T SNP SDK1 NM_152744 human genbank 54_36p 1 validated silent c.2148 p.V716 0.26 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors SDK1 221935 broad.mit.edu 36 7 4055543 4055543 + Silent SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 4055543 4055543 C T SNP SDK1 NM_152744 human genbank 54_36p 1 validated silent c.2640 p.A880 0.68 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors SDK1 221935 broad.mit.edu 36 7 4083181 4083181 + Silent SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 4083181 4083181 C T SNP SDK1 NM_152744 human genbank 54_36p 1 validated silent c.3036 p.Y1012 0.2 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FOXK1 221937 broad.mit.edu 36 7 4767323 4767323 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 4767323 4767323 C G SNP FOXK1 NM_001037165 human genbank 54_36p 1 validated missense c.1799 p.T600R 0.99 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors KIAA0415 9907 broad.mit.edu 36 7 4789544 4789544 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 4789544 4789544 G C SNP KIAA0415 NM_014855 human genbank 54_36p 1 validated missense c.438 p.E146D 1 NULL NULL - no_errors PAPOLB 56903 broad.mit.edu 36 7 4867818 4867818 + Silent SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 4867818 4867818 G A SNP PAPOLB NM_020144 human genbank 54_36p -1 validated silent c.150 p.F50 0.95 "HMMPfam_PAP_central,superfamily_SSF81301" "HMMPfam_PAP_central,superfamily_SSF81301,HMMPfam_NTP_transf_2,superfamily_SSF81631,superfamily_PAP_C,HMMPfam_PAP_RNA-bind" - no_errors RBAK 57786 broad.mit.edu 36 7 5063848 5063848 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 5063848 5063848 T G SNP RBAK NM_021163 human genbank 54_36p 1 reviewed missense c.150 p.D50E 0 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RBAK 57786 broad.mit.edu 36 7 5069883 5069883 + Silent SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5069883 5069883 A G SNP RBAK NM_021163 human genbank 54_36p 1 reviewed silent c.270 p.R90 0.1 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors RBAK 57786 broad.mit.edu 36 7 5071171 5071172 + Missense_Mutation DNP TT TT AA novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5071171 5071172 TT AA DNP RBAK NM_021163 human genbank 54_36p 1 reviewed missense c.1558_1559 p.F520N 0.470:0.177 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors WIPI2 26100 broad.mit.edu 36 7 5205797 5205797 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5205797 5205797 G C SNP WIPI2 NM_015610 human genbank 54_36p 1 validated missense c.193 p.E65Q 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320" - no_errors WIPI2 26100 broad.mit.edu 36 7 5224105 5224105 + Silent SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5224105 5224105 C T SNP WIPI2 NM_015610 human genbank 54_36p 1 validated silent c.603 p.H201 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like" "HMMSmart_SM00320,superfamily_WD40 repeat-like" - no_errors TNRC18B 27320 broad.mit.edu 36 7 5318829 5318830 + Missense_Mutation DNP TT TT CA novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5318829 5318830 TT CA DNP TNRC18B ENST00000399537 human ensembl 54_36p -1 known missense c.7862_7861 p.K2621W 0.193:0.194 NULL "HMMPfam_BAH,HMMSmart_SM00439" - no_errors TNRC18 84629 broad.mit.edu 36 7 5368104 5368104 + Nonsense_Mutation SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5368104 5368104 G C SNP TNRC18 NM_001080495 human genbank 54_36p -1 provisional nonsense c.4260 p.Y1420* 1 NULL "HMMPfam_BAH,HMMSmart_SM00439" - no_errors TNRC18 84629 broad.mit.edu 36 7 5376660 5376660 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5376660 5376660 C G SNP TNRC18 NM_001080495 human genbank 54_36p -1 provisional missense c.3869 p.G1290A 0.57 NULL "HMMPfam_BAH,HMMSmart_SM00439" - no_errors TNRC18 84629 broad.mit.edu 36 7 5383118 5383118 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 5383118 5383118 C T SNP TNRC18 NM_001080495 human genbank 54_36p -1 provisional missense c.2272 p.A758T 1 NULL "HMMPfam_BAH,HMMSmart_SM00439" - no_errors FBXL18 80028 broad.mit.edu 36 7 5506682 5506682 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5506682 5506682 C G SNP FBXL18 NM_024963 human genbank 54_36p -1 validated missense c.1744 p.D582H 1 superfamily_SSF52047 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047" - no_errors FBXL18 80028 broad.mit.edu 36 7 5506814 5506814 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5506814 5506814 G A SNP FBXL18 NM_024963 human genbank 54_36p -1 validated missense c.1612 p.L538F 0.99 superfamily_SSF52047 "HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047,superfamily_SSF81383" - no_errors FBXL18 80028 broad.mit.edu 36 7 5507229 5507229 + Silent SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5507229 5507229 C T SNP FBXL18 NM_024963 human genbank 54_36p -1 validated silent c.1197 p.E399 0.76 superfamily_SSF52047 "HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047,superfamily_SSF81383" - no_errors FSCN1 6624 broad.mit.edu 36 7 5610090 5610090 + Silent SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5610090 5610090 C T SNP FSCN1 NM_003088 human genbank 54_36p 1 validated silent c.1182 p.F394 1 "superfamily_Actin_crosslink,HMMPfam_Fascin" "superfamily_Actin_crosslink,HMMPfam_Fascin" - no_errors RNF216 54476 broad.mit.edu 36 7 5629094 5629094 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5629094 5629094 C T SNP RNF216 NM_207111 human genbank 54_36p -1 reviewed missense c.2695 p.D899N 0.98 NULL "HMMSmart_IBR,superfamily_SSF57850" - no_errors RNF216 54476 broad.mit.edu 36 7 5727257 5727257 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 5727257 5727257 C T SNP RNF216 NM_207111 human genbank 54_36p -1 reviewed missense c.1577 p.R526H 0.26 NULL "HMMSmart_IBR,superfamily_SSF57850" - no_errors RSPH10B 222967 broad.mit.edu 36 7 5949590 5949590 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 5949590 5949590 A C SNP RSPH10B NM_173565 human genbank 54_36p -1 validated missense c.1649 p.M550R 0.48 NULL "HMMPfam_MORN,superfamily_SSF82185,HMMSmart_MORN" - no_errors AIMP2 7965 broad.mit.edu 36 7 6024012 6024012 + Silent SNP G G T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 6024012 6024012 G T SNP JTV1 NM_006303 human genbank 54_36p 1 validated silent c.384 p.P128 0.14 NULL superfamily_GST_C_like - no_errors USP42 84132 broad.mit.edu 36 7 6156165 6156165 + Silent SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 6156165 6156165 G A SNP USP42 ENST00000404835 human ensembl 54_36p 1 known silent c.1812 p.L604 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_IG_MHC" - no_errors C7orf70 84792 broad.mit.edu 36 7 6336862 6336862 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 6336862 6336862 G T SNP MGC12966 NM_001037163 human genbank 54_36p -1 validated missense c.449 p.P150H 0 NULL NULL - no_errors DAGLB 221955 broad.mit.edu 36 7 6416284 6416284 + Splice_Site SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 6416284 6416284 A G SNP DAGLB NM_139179 human genbank 54_36p -1 validated splice_site c.1820+2 e14+2 1 - - - no_errors DAGLB 221955 broad.mit.edu 36 7 6422836 6422836 + Silent SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 6422836 6422836 G A SNP DAGLB NM_139179 human genbank 54_36p -1 validated silent c.1374 p.A458 0 "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase_3" "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase_3" - no_errors DAGLB 221955 broad.mit.edu 36 7 6442674 6442674 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 6442674 6442674 G A SNP DAGLB NM_139179 human genbank 54_36p -1 validated missense c.263 p.P88L 1 NULL "HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases" - no_errors RSPH10B2 728194 broad.mit.edu 36 7 6764015 6764015 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 6764015 6764015 G A SNP RSPH10B2 NM_001099697 human genbank 54_36p 1 provisional missense c.182 p.R61H 0 NULL "HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698" - no_errors NXPH1 30010 broad.mit.edu 36 7 8757457 8757457 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 8757457 8757457 A G SNP NXPH1 NM_152745 human genbank 54_36p 1 reviewed missense c.349 p.K117E 1 HMMPfam_Neurexophilin HMMPfam_Neurexophilin - no_errors THSD7A 221981 broad.mit.edu 36 7 11385794 11385794 + Silent SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 11385794 11385794 C G SNP THSD7A NM_015204 human genbank 54_36p -1 validated silent c.4578 p.S1526 0.8 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors THSD7A 221981 broad.mit.edu 36 7 11642734 11642734 + Silent SNP A A C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 11642734 11642734 A C SNP THSD7A NM_015204 human genbank 54_36p -1 validated silent c.570 p.P190 0.93 superfamily_TSP-1 type 1 repeat "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" - no_errors ARL4A 10124 broad.mit.edu 36 7 12694730 12694730 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 12694730 12694730 A T SNP ARL4A NM_001037164 human genbank 54_36p 1 reviewed missense c.326 p.E109V 1 "HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175" "HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,PatternScan_ARF" - no_errors ETV1 2115 broad.mit.edu 36 7 13937754 13937754 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 13937754 13937754 G A SNP ETV1 ENST00000405358 human ensembl 54_36p -1 known missense c.742 p.P248S 1 HMMPfam_ETS_PEA3_N "HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors DGKB 1607 broad.mit.edu 36 7 14613624 14613624 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 14613624 14613624 G C SNP DGKB NM_004080 human genbank 54_36p -1 reviewed missense c.1396 p.R466G 1 "HMMPfam_DAGK_cat,HMMSmart_SM00046" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors DGKB 1607 broad.mit.edu 36 7 14613634 14613634 + Silent SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 14613634 14613634 T C SNP DGKB NM_004080 human genbank 54_36p -1 reviewed silent c.1386 p.L462 0.38 "HMMPfam_DAGK_cat,HMMSmart_SM00046" "HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMSmart_SM00054,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Cysteine-rich domain" - no_errors MEOX2 4223 broad.mit.edu 36 7 15692124 15692124 + Silent SNP C C A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 15692124 15692124 C A SNP MEOX2 NM_005924 human genbank 54_36p -1 reviewed silent c.429 p.A143 0.99 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ISPD 729920 broad.mit.edu 36 7 16412440 16412440 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 16412440 16412440 A C SNP LOC729920 NM_001101426 human genbank 54_36p -1 validated missense c.305 p.M102R 1 "superfamily_SSF53448,HMMPfam_IspD" "superfamily_SSF53448,HMMPfam_IspD,PatternScan_ISPD" - no_errors SOSTDC1 25928 broad.mit.edu 36 7 16471749 16471749 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 16471749 16471749 A G SNP SOSTDC1 NM_015464 human genbank 54_36p -1 reviewed missense c.70 p.F24L 1 HMMPfam_Sclerostin HMMPfam_Sclerostin - no_errors TSPAN13 27075 broad.mit.edu 36 7 16784011 16784011 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 16784011 16784011 C G SNP TSPAN13 NM_014399 human genbank 54_36p 1 reviewed missense c.376 p.L126V 1 HMMPfam_Tetraspannin HMMPfam_Tetraspannin - no_errors AHR 196 broad.mit.edu 36 7 17346021 17346021 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 17346021 17346021 C G SNP AHR NM_001621 human genbank 54_36p 1 reviewed missense c.2047 p.Q683E 0.16 NULL "HMMSmart_SM00353,HMMPfam_HLH,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086" - no_errors HDAC9 9734 broad.mit.edu 36 7 18635511 18635511 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 18635511 18635511 C T SNP HDAC9 NM_178425 human genbank 54_36p 1 reviewed silent c.678 p.N226 1 NULL "superfamily_SSF52768,HMMPfam_Hist_deacetyl" - no_errors MACC1 346389 broad.mit.edu 36 7 20164423 20164423 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 20164423 20164423 C T SNP MACC1 NM_182762 human genbank 54_36p -1 validated missense c.2086 p.V696I 1 superfamily_DEATH domain "HMMPfam_SH3_2,superfamily_DEATH domain" - no_errors ABCB5 340273 broad.mit.edu 36 7 20651927 20651927 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 20651927 20651927 G T SNP ABCB5 ENST00000404938 human ensembl 54_36p 1 known missense c.702 p.K234N 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB5 340273 broad.mit.edu 36 7 20733216 20733216 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 20733216 20733216 G A SNP ABCB5 NM_178559 human genbank 54_36p 1 validated missense c.1319 p.R440H 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" - no_errors SP4 6671 broad.mit.edu 36 7 21436472 21436472 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21436472 21436472 T A SNP SP4 NM_003112 human genbank 54_36p 1 validated missense c.1164 p.D388E 0.97 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors SP4 6671 broad.mit.edu 36 7 21436551 21436551 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21436551 21436551 C G SNP SP4 NM_003112 human genbank 54_36p 1 validated missense c.1243 p.Q415E 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors SP4 6671 broad.mit.edu 36 7 21488152 21488152 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21488152 21488152 C T SNP SP4 NM_003112 human genbank 54_36p 1 validated nonsense c.1993 p.R665* 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors DNAH11 8701 broad.mit.edu 36 7 21607028 21607028 + Silent SNP A A G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21607028 21607028 A G SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known silent c.3210 p.E1070 0.84 NULL "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy" - no_errors DNAH11 8701 broad.mit.edu 36 7 21693297 21693297 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21693297 21693297 G T SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.5698 p.G1900C 1 "HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH11 8701 broad.mit.edu 36 7 21713907 21713907 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 21713907 21713907 C A SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.6633 p.N2211K 1 "HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH11 8701 broad.mit.edu 36 7 21754771 21754771 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21754771 21754771 G T SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.8580 p.L2860F 0.88 "HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH11 8701 broad.mit.edu 36 7 21795470 21795470 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 21795470 21795470 C T SNP DNAH11 NM_003777 human genbank 54_36p 1 reviewed nonsense c.10033 p.Q3345* 0.99 NULL "HMMPfam_DHC_N1,HMMPfam_DHC_N2" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAH11 8701 broad.mit.edu 36 7 21848769 21848769 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 21848769 21848769 T C SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.10795 p.Y3599H 1 NULL "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH11 8701 broad.mit.edu 36 7 21879437 21879437 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 21879437 21879437 G C SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.12009 p.K4003N 1 HMMPfam_Dynein_heavy "PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RAPGEF5 9771 broad.mit.edu 36 7 22151226 22151226 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 22151226 22151226 C T SNP RAPGEF5 NM_012294 human genbank 54_36p -1 validated missense c.1688 p.R563Q 1 "superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF" "superfamily_Winged helix DNA-binding domain,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors KLHL7 55975 broad.mit.edu 36 7 23180351 23180351 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 23180351 23180351 C G SNP KLHL7 NM_001031710 human genbank 54_36p 1 validated missense c.1670 p.A557G 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors GPNMB 10457 broad.mit.edu 36 7 23263167 23263167 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 23263167 23263167 G A SNP GPNMB NM_001005340 human genbank 54_36p 1 reviewed missense c.499 p.G167R 0.97 NULL "superfamily_PKD domain,HMMSmart_SM00089,HMMPfam_PKD" - no_errors GPNMB 10457 broad.mit.edu 36 7 23280357 23280357 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 23280357 23280357 G C SNP GPNMB NM_001005340 human genbank 54_36p 1 reviewed missense c.1708 p.G570R 0 NULL "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain" - no_errors CCDC126 90693 broad.mit.edu 36 7 23649244 23649244 + Silent SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 23649244 23649244 G A SNP CCDC126 NM_138771 human genbank 54_36p 1 validated silent c.408 p.S136 0.68 NULL NULL - no_errors CYCS 54205 broad.mit.edu 36 7 25129902 25129902 + Silent SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 25129902 25129902 C T SNP CYCS NM_018947 human genbank 54_36p -1 reviewed silent c.261 p.K87 1 "superfamily_Cytochrome c,HMMPfam_Cytochrom_C" "superfamily_Cytochrome c,HMMPfam_Cytochrom_C" - no_errors SKAP2 8935 broad.mit.edu 36 7 26676276 26676276 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 26676276 26676276 T C SNP SKAP2 NM_003930 human genbank 54_36p -1 reviewed missense c.1048 p.K350E 1 "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" - no_errors HOXA1 3198 broad.mit.edu 36 7 27101502 27101502 + Silent SNP G G T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 27101502 27101502 G T SNP HOXA1 NM_005522 human genbank 54_36p -1 reviewed silent c.555 p.A185 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXA1 3198 broad.mit.edu 36 7 27101659 27101659 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 27101659 27101659 C T SNP HOXA1 NM_005522 human genbank 54_36p -1 reviewed missense c.398 p.G133E 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors HOXA1 3198 broad.mit.edu 36 7 27101805 27101805 + Silent SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 27101805 27101805 C A SNP HOXA1 NM_005522 human genbank 54_36p -1 reviewed silent c.252 p.G84 0.61 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors HOXA10 3206 broad.mit.edu 36 7 27179982 27179982 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 27179982 27179982 A G SNP HOXA10 NM_018951 human genbank 54_36p -1 reviewed missense c.418 p.C140R 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXA10 3206 broad.mit.edu 36 7 27180331 27180331 + Silent SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 27180331 27180331 G A SNP HOXA10 NM_018951 human genbank 54_36p -1 reviewed silent c.69 p.G23 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors HOXA11 3207 broad.mit.edu 36 7 27190868 27190868 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 27190868 27190868 C G SNP HOXA11 NM_005523 human genbank 54_36p -1 reviewed missense c.421 p.D141H 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors TRIL 9865 broad.mit.edu 36 7 28963656 28963656 + Silent SNP A A G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 28963656 28963656 A G SNP KIAA0644 NM_014817 human genbank 54_36p -1 validated silent c.532 p.L178 0.66 "superfamily_L domain-like,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - pseudogene CPVL 54504 broad.mit.edu 36 7 29036851 29036851 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 29036851 29036851 G C SNP CPVL NM_019029 human genbank 54_36p -1 reviewed missense c.1187 p.T396R 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10" "superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10,PatternScan_CARBOXYPEPT_SER_SER" - no_errors CHN2 1124 broad.mit.edu 36 7 29513396 29513396 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 29513396 29513396 A T SNP CHN2 NM_004067 human genbank 54_36p 1 reviewed missense c.1019 p.N340I 0.99 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors WIPF3 644150 broad.mit.edu 36 7 29882023 29882023 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 29882023 29882023 C T SNP WIPF3 NM_001080529 human genbank 54_36p 1 provisional missense c.143 p.A48V 0.99 "HMMPfam_WH2,HMMSmart_WH2" "HMMPfam_WH2,HMMSmart_WH2" - no_errors SCRN1 9805 broad.mit.edu 36 7 29946841 29946841 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 29946841 29946841 T A SNP SCRN1 NM_014766 human genbank 54_36p -1 reviewed missense c.721 p.S241C 1 NULL NULL - no_errors NOD1 10392 broad.mit.edu 36 7 30457825 30457825 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 30457825 30457825 A G SNP NOD1 NM_006092 human genbank 54_36p -1 validated missense c.1733 p.L578P 1 NULL "superfamily_DEATH_like,HMMPfam_CARD,HMMPfam_NACHT,superfamily_SSF52047" - no_errors GARS 2617 broad.mit.edu 36 7 30622130 30622130 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 30622130 30622130 G T SNP GARS NM_002047 human genbank 54_36p 1 reviewed missense c.1125 p.L375F 1 "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b" "HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors CRHR2 1395 broad.mit.edu 36 7 30661826 30661826 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 30661826 30661826 C T SNP CRHR2 NM_001883 human genbank 54_36p -1 validated silent c.948 p.L316 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2" "superfamily_Hormone receptor domain (HRM Pfam 02793),HMMSmart_SM00008,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors INMT 11185 broad.mit.edu 36 7 30761858 30761858 + Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 30761858 30761858 G T SNP INMT NM_006774 human genbank 54_36p 1 reviewed nonsense c.658 p.E220* 0.1 "HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335" "HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335,PatternScan_NNMT_PNMT_TEMT" - no_errors GHRHR 2692 broad.mit.edu 36 7 30980174 30980174 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 30980174 30980174 A C SNP GHRHR NM_000823 human genbank 54_36p 1 reviewed missense c.647 p.N216T 1 "superfamily_SSF81321,HMMPfam_7tm_2" "superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors NEUROD6 63974 broad.mit.edu 36 7 31344732 31344732 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 31344732 31344732 C G SNP NEUROD6 NM_022728 human genbank 54_36p -1 provisional missense c.676 p.D226H 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors C7orf16 10842 broad.mit.edu 36 7 31703111 31703111 + Silent SNP T T C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 31703111 31703111 T C SNP C7orf16 NM_006658 human genbank 54_36p 1 validated silent c.243 p.F81 1 NULL NULL - no_errors FKBP9 11328 broad.mit.edu 36 7 32963838 32963838 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 32963838 32963838 T C SNP FKBP9 NM_007270 human genbank 54_36p 1 validated missense c.128 p.V43A 1 superfamily_SSF54534 "superfamily_SSF54534,HMMPfam_FKBP_C,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,PatternScan_ER_TARGET" - no_errors NT5C3 51251 broad.mit.edu 36 7 33023709 33023709 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 33023709 33023709 A T SNP NT5C3 NM_001002010 human genbank 54_36p -1 validated missense c.575 p.L192H 1 "superfamily_HAD-like,HMMPfam_UMPH-1" "superfamily_HAD-like,HMMPfam_UMPH-1" - no_errors BBS9 27241 broad.mit.edu 36 7 33161813 33161813 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 33161813 33161813 G A SNP BBS9 NM_198428 human genbank 54_36p 1 reviewed missense c.302 p.R101K 1 NULL NULL - no_errors HERPUD2 64224 broad.mit.edu 36 7 35641357 35641357 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 35641357 35641357 C T SNP HERPUD2 NM_022373 human genbank 54_36p -1 validated missense c.854 p.R285Q 1 NULL "superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin" - no_errors HERPUD2 64224 broad.mit.edu 36 7 35641447 35641447 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 35641447 35641447 T C SNP HERPUD2 NM_022373 human genbank 54_36p -1 validated missense c.764 p.E255G 1 NULL "HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236" - no_errors HERPUD2 64224 broad.mit.edu 36 7 35676413 35676413 + Silent SNP G G C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 35676413 35676413 G C SNP HERPUD2 NM_022373 human genbank 54_36p -1 validated silent c.276 p.P92 1 superfamily_SSF54236 "HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236" - no_errors EEPD1 80820 broad.mit.edu 36 7 36161160 36161160 + Silent SNP G G T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 36161160 36161160 G T SNP EEPD1 NM_030636 human genbank 54_36p 1 validated silent c.702 p.P234 0.2 NULL "HMMPfam_HHH,superfamily_RuvA domain 2-like,HMMSmart_SM00278,HMMPfam_Exo_endo_phos,superfamily_DNase I-like" - no_errors ELMO1 9844 broad.mit.edu 36 7 37265361 37265361 + Silent SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 37265361 37265361 T A SNP ELMO1 NM_014800 human genbank 54_36p -1 reviewed silent c.363 p.I121 0.99 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_ELMO_CED12,superfamily_PH domain-like" - no_errors ELMO1 9844 broad.mit.edu 36 7 37348807 37348807 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 37348807 37348807 C T SNP ELMO1 NM_014800 human genbank 54_36p -1 reviewed missense c.13 p.A5T 0.72 NULL "HMMPfam_ELMO_CED12,superfamily_ARM repeat,superfamily_PH domain-like" - no_errors GPR141 353345 broad.mit.edu 36 7 37746965 37746965 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 37746965 37746965 C T SNP GPR141 NM_181791 human genbank 54_36p 1 provisional missense c.445 p.P149S 0.36 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors GPR141 353345 broad.mit.edu 36 7 37747314 37747314 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 37747314 37747314 A G SNP GPR141 NM_181791 human genbank 54_36p 1 provisional missense c.794 p.Y265C 0.97 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors GPR141 353345 broad.mit.edu 36 7 37747434 37747434 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 37747434 37747434 G A SNP GPR141 NM_181791 human genbank 54_36p 1 provisional missense c.914 p.R305H 0.05 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors TXNDC3 51314 broad.mit.edu 36 7 37883045 37883045 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 37883045 37883045 C T SNP TXNDC3 NM_016616 human genbank 54_36p 1 validated missense c.905 p.A302V 0.01 superfamily_NDK "PatternScan_NDP_KINASES,HMMPfam_Thioredoxin,superfamily_Thiordxn-like_fd,PatternScan_THIOREDOXIN_1,superfamily_NDK,HMMSmart_NDK,HMMPfam_NDK" - no_errors EPDR1 54749 broad.mit.edu 36 7 37926825 37926826 + Missense_Mutation DNP CA CA AT novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 37926825 37926826 CA AT DNP EPDR1 NM_017549 human genbank 54_36p 1 reviewed missense c.119_120 p.P40H 0.000:0.000 NULL "HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2" - no_errors EPDR1 54749 broad.mit.edu 36 7 37926943 37926943 + Silent SNP A A C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 37926943 37926943 A C SNP EPDR1 NM_017549 human genbank 54_36p 1 reviewed silent c.237 p.A79 0 NULL "HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2" - no_errors EPDR1 54749 broad.mit.edu 36 7 37927028 37927028 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 37927028 37927028 G C SNP EPDR1 NM_017549 human genbank 54_36p 1 reviewed missense c.322 p.G108R 0 NULL "HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2" - no_errors EPDR1 54749 broad.mit.edu 36 7 37927045 37927045 + Silent SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 37927045 37927045 G C SNP EPDR1 NM_017549 human genbank 54_36p 1 reviewed silent c.339 p.S113 0 NULL "HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2" - no_errors AMPH 273 broad.mit.edu 36 7 38472374 38472374 + Splice_Site SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 38472374 38472374 C T SNP AMPH NM_001635 human genbank 54_36p -1 reviewed splice_site c.591-1 e8-1 1 - - - no_errors VPS41 27072 broad.mit.edu 36 7 38778646 38778646 + Splice_Site SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 38778646 38778646 C T SNP VPS41 NM_014396 human genbank 54_36p -1 reviewed splice_site c.1128+1 e13+1 1 - - - no_errors CDK13 8621 broad.mit.edu 36 7 40094368 40094368 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 40094368 40094368 G T SNP CDC2L5 NM_003718 human genbank 54_36p 1 reviewed missense c.3148 p.G1050C 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors INHBA 3624 broad.mit.edu 36 7 41695796 41695796 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 7 41695796 41695796 C T SNP INHBA NM_002192 human genbank 54_36p -1 reviewed missense c.1258 p.V420M 1 "superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204" "HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1" - no_errors PSMA2 5683 broad.mit.edu 36 7 42930912 42930912 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 42930912 42930912 C T SNP PSMA2 NM_002787 human genbank 54_36p -1 reviewed silent c.261 p.V87 0.99 "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome" "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome_A_N,PatternScan_PROTEASOME_A,HMMPfam_Proteasome" - no_errors HECW1 23072 broad.mit.edu 36 7 43462495 43462495 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 43462495 43462495 C G SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.2575 p.R859G 1 "superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1" "HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors HECW1 23072 broad.mit.edu 36 7 43548047 43548047 + Silent SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 43548047 43548047 G A SNP HECW1 NM_015052 human genbank 54_36p 1 validated silent c.4173 p.L1391 1 "HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT" "HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB" - no_errors HECW1 23072 broad.mit.edu 36 7 43556662 43556662 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 43556662 43556662 G A SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.4342 p.V1448M 1 "HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT" "HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB" - no_errors C7orf44 55744 broad.mit.edu 36 7 43651524 43651524 + Splice_Site SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 43651524 43651524 C G SNP C7orf44 NM_018224 human genbank 54_36p -1 validated splice_site c.116-1 e3-1 0.01 - - - no_errors URGCP 55665 broad.mit.edu 36 7 43884411 43884411 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 43884411 43884411 C T SNP URG4 NM_001077663 human genbank 54_36p -1 validated silent c.1176 p.G392 0.06 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors URGCP 55665 broad.mit.edu 36 7 43885175 43885175 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 43885175 43885175 C T SNP URG4 NM_001077663 human genbank 54_36p -1 validated missense c.412 p.V138M 0 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SPDYE1 285955 broad.mit.edu 36 7 44013461 44013461 + Silent SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 44013461 44013461 G C SNP SPDYE1 NM_175064 human genbank 54_36p 1 validated silent c.702 p.G234 0.01 NULL NULL - no_errors DBNL 28988 broad.mit.edu 36 7 44066903 44066904 + Missense_Mutation DNP GA GA TG novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44066903 44066904 GA TG DNP DBNL NM_014063 human genbank 54_36p 1 validated missense c.1159_1160 p.D387C 1.000:1.000 "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" "superfamily_SSF55753,HMMSmart_ADF,HMMPfam_Cofilin_ADF,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors POLM 27434 broad.mit.edu 36 7 44085813 44085813 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 44085813 44085813 C T SNP POLM NM_013284 human genbank 54_36p -1 validated missense c.524 p.R175H 0.84 "superfamily_DNApol_B_N_like,HMMSmart_POLXc" "HMMSmart_BRCT,superfamily_BRCT,superfamily_DNApol_B_N_like,HMMSmart_POLXc,superfamily_DNA_pol_lambd_fingers_domain,HMMPfam_DNA_pol_lambd_f,superfamily_SSF81301,PatternScan_DNA_POLYMERASE_X" - no_errors POLD2 5425 broad.mit.edu 36 7 44128026 44128026 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 44128026 44128026 G C SNP POLD2 NM_006230 human genbank 54_36p -1 validated missense c.152 p.A51G 1 NULL HMMPfam_DNA_pol_E_B - no_errors CAMK2B 816 broad.mit.edu 36 7 44253290 44253301 + In_Frame_Del DEL GCCTCCAGGATC - GCCTCCAGGATC novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 GCCTCCAGGATC GCCTCCAGGATC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44253290 44253301 GCCTCCAGGATC - DEL CAMK2B NM_001220 human genbank 54_36p -1 reviewed in_frame_del c.368_357 p.QILEA119in_frame_delH 0.990:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF54427,HMMPfam_CaMKII_AD" "(deletion:cds_exon[44253244,44253316])" no_errors NPC1L1 29881 broad.mit.edu 36 7 44519640 44519640 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44519640 44519640 G C SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated missense c.4011 p.S1337R 0.2 NULL "HMMPfam_Patched,superfamily_SSF82866" - no_errors NPC1L1 29881 broad.mit.edu 36 7 44542426 44542426 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 44542426 44542426 A G SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated missense c.1808 p.F603S 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors NPC1L1 29881 broad.mit.edu 36 7 44545867 44545867 + Silent SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44545867 44545867 G T SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated silent c.654 p.I218 1 NULL "HMMPfam_Patched,superfamily_SSF82866" - no_errors NPC1L1 29881 broad.mit.edu 36 7 44546314 44546314 + Silent SNP A A G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44546314 44546314 A G SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated silent c.207 p.D69 0.01 NULL "HMMPfam_Patched,superfamily_SSF82866" - no_errors OGDH 4967 broad.mit.edu 36 7 44704337 44704337 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 44704337 44704337 C A SNP OGDH NM_002541 human genbank 54_36p 1 reviewed missense c.2380 p.R794S 1 "HMMPfam_Transket_pyr,superfamily_SSF52518" "HMMPfam_E1_dh,HMMPfam_Transket_pyr,superfamily_SSF52518" - no_errors ZMIZ2 83637 broad.mit.edu 36 7 44762655 44762655 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 44762655 44762655 C G SNP ZMIZ2 NM_031449 human genbank 54_36p 1 validated missense c.157 p.Q53E 0.99 NULL "superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors ZMIZ2 83637 broad.mit.edu 36 7 44765470 44765470 + Silent SNP C C T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44765470 44765470 C T SNP ZMIZ2 NM_031449 human genbank 54_36p 1 validated silent c.879 p.P293 0.05 NULL "HMMPfam_zf-MIZ,superfamily_RING/U-box" - no_errors ZMIZ2 83637 broad.mit.edu 36 7 44767954 44767954 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44767954 44767954 C A SNP ZMIZ2 NM_031449 human genbank 54_36p 1 validated missense c.1521 p.H507Q 1 NULL "HMMPfam_zf-MIZ,superfamily_RING/U-box" - no_errors MYO1G 64005 broad.mit.edu 36 7 44983057 44983057 + Silent SNP G G C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 44983057 44983057 G C SNP MYO1G NM_033054 human genbank 54_36p -1 validated silent c.234 p.L78 0.92 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1" - no_errors ADCY1 107 broad.mit.edu 36 7 45663904 45663904 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 45663904 45663904 C T SNP ADCY1 NM_021116 human genbank 54_36p 1 reviewed missense c.1202 p.T401M 1 "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc" "HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY1 107 broad.mit.edu 36 7 45663954 45663954 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 45663954 45663954 G A SNP ADCY1 NM_021116 human genbank 54_36p 1 reviewed missense c.1252 p.V418M 1 "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1" "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY1 107 broad.mit.edu 36 7 45716742 45716742 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 45716742 45716742 G A SNP ADCY1 NM_021116 human genbank 54_36p 1 reviewed missense c.3023 p.R1008Q 1 "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1" "HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1" - no_errors TNS3 64759 broad.mit.edu 36 7 47284306 47284306 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 47284306 47284306 T C SNP TNS3 NM_022748 human genbank 54_36p -1 validated missense c.4231 p.T1411A 1 "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PTB" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PTB" - no_errors TNS3 64759 broad.mit.edu 36 7 47309386 47309386 + Silent SNP T T A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 47309386 47309386 T A SNP TNS3 NM_022748 human genbank 54_36p -1 validated silent c.3144 p.S1048 0 NULL "HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,HMMSmart_SM00462,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTB,HMMPfam_PTEN_C2,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain" - no_errors TNS3 64759 broad.mit.edu 36 7 47417873 47417873 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 47417873 47417873 G A SNP TNS3 NM_022748 human genbank 54_36p -1 validated nonsense c.700 p.Q234* 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2" "HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,HMMSmart_SM00462,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTB,HMMPfam_PTEN_C2,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain" - no_errors PKD1L1 168507 broad.mit.edu 36 7 47817969 47817969 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 47817969 47817969 C T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.7552 p.A2518T 0 HMMPfam_PKD_channel "HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PKD,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_PKD_channel" - no_errors PKD1L1 168507 broad.mit.edu 36 7 47818010 47818010 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 47818010 47818010 G T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed nonsense c.7511 p.S2504* 0.07 HMMPfam_PKD_channel "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PKD1L1 168507 broad.mit.edu 36 7 47839289 47839289 + Silent SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 47839289 47839289 C T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed silent c.6261 p.K2087 0 NULL "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PKD1L1 168507 broad.mit.edu 36 7 47845618 47845618 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 47845618 47845618 C T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.5720 p.R1907H 0 "HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain)" "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors PKD1L1 168507 broad.mit.edu 36 7 47910608 47910608 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 47910608 47910608 A C SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed missense c.1823 p.V608G 0.97 "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain" "HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_REJ,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel" - no_errors UPP1 7378 broad.mit.edu 36 7 48114399 48114399 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 48114399 48114399 C T SNP UPP1 NM_003364 human genbank 54_36p 1 validated missense c.853 p.R285C 0.96 "superfamily_Purine and uridine phosphorylases,HMMPfam_PNP_UDP_1" "superfamily_Purine and uridine phosphorylases,HMMPfam_PNP_UDP_1,PatternScan_PNP_UDP_1" - no_errors ABCA13 154664 broad.mit.edu 36 7 48289036 48289036 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 48289036 48289036 C T SNP ABCA13 ENST00000319379 human ensembl 54_36p 1 known nonsense c.7534 p.Q2512* 0.08 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_start_codon ABCA13 154664 broad.mit.edu 36 7 48399249 48399249 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 48399249 48399249 T C SNP ABCA13 ENST00000319379 human ensembl 54_36p 1 known missense c.11375 p.V3792A 0.98 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_start_codon FIGNL1 63979 broad.mit.edu 36 7 50481161 50481161 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 50481161 50481161 A C SNP FIGNL1 NM_001042762 human genbank 54_36p -1 validated missense c.1319 p.F440C 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Vps4_C" - no_errors FIGNL1 63979 broad.mit.edu 36 7 50482427 50482427 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 50482427 50482427 T A SNP FIGNL1 NM_001042762 human genbank 54_36p -1 validated missense c.53 p.Y18F 1 NULL "HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Vps4_C,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GRB10 2887 broad.mit.edu 36 7 50709713 50709713 + Silent SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 50709713 50709713 A G SNP GRB10 NM_005311 human genbank 54_36p -1 reviewed silent c.276 p.A92 0.01 NULL "HMMPfam_RA,HMMSmart_SM00314,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_BPS,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors GRB10 2887 broad.mit.edu 36 7 50709731 50709731 + Silent SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 50709731 50709731 G C SNP GRB10 NM_005311 human genbank 54_36p -1 reviewed silent c.258 p.A86 0.06 NULL "HMMPfam_RA,HMMSmart_SM00314,HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_BPS,superfamily_PH domain-like,superfamily_SH2 domain" - no_errors COBL 23242 broad.mit.edu 36 7 51063831 51063831 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 51063831 51063831 T G SNP COBL NM_015198 human genbank 54_36p -1 validated missense c.2456 p.K819T 0.03 NULL "HMMPfam_Cobl,HMMPfam_WH2,HMMSmart_SM00246" - no_errors COBL 23242 broad.mit.edu 36 7 51120394 51120394 + Silent SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 51120394 51120394 G C SNP COBL NM_015198 human genbank 54_36p -1 validated silent c.1059 p.R353 0.06 NULL "HMMPfam_WH2,HMMSmart_SM00246,HMMPfam_Cobl" - no_errors VSTM2A 222008 broad.mit.edu 36 7 54579852 54579852 + Silent SNP G G T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 54579852 54579852 G T SNP VSTM2A NM_182546 human genbank 54_36p 1 validated silent c.123 p.G41 1 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" - no_errors VSTM2A 222008 broad.mit.edu 36 7 54585125 54585125 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 54585125 54585125 C A SNP VSTM2A NM_182546 human genbank 54_36p 1 validated nonsense c.402 p.Y134* 1 "HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726" - no_errors EGFR 1956 broad.mit.edu 36 7 55191120 55191120 + Silent SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 55191120 55191120 G A SNP EGFR NM_005228 human genbank 54_36p 1 reviewed silent c.993 p.G331 1 "HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors EGFR 1956 broad.mit.edu 36 7 55209193 55209193 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 55209193 55209193 A G SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2147 p.K716R 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EGFR 1956 broad.mit.edu 36 7 55240662 55240662 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 55240662 55240662 A G SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.3491 p.Q1164R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LANCL2 55915 broad.mit.edu 36 7 55435292 55435292 + Splice_Site SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 55435292 55435292 G A SNP LANCL2 NM_018697 human genbank 54_36p 1 validated splice_site c.678+1 e4+1 1 - - - no_errors ZNF713 349075 broad.mit.edu 36 7 55958463 55958463 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 55958463 55958463 C A SNP ZNF713 NM_182633 human genbank 54_36p 1 provisional missense c.163 p.L55I 0.16 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PSPH 5723 broad.mit.edu 36 7 56046949 56046949 + Nonstop_Mutation SNP T T A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 56046949 56046949 T A SNP PSPH NM_004577 human genbank 54_36p -1 reviewed nonstop c.678 p.*226Y 0.01 NULL "superfamily_HAD-like,HMMPfam_Hydrolase" - no_errors ZNF479 90827 broad.mit.edu 36 7 57192565 57192565 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 57192565 57192565 C G SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.499 p.G167R 0 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF479 90827 broad.mit.edu 36 7 57198322 57198322 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 57198322 57198322 C T SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.85 p.E29K 0.97 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF680 340252 broad.mit.edu 36 7 63642220 63642220 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 63642220 63642220 G T SNP ZNF680 NM_178558 human genbank 54_36p -1 validated missense c.56 p.A19D 0.92 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF107 51427 broad.mit.edu 36 7 63804233 63804233 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 63804233 63804233 A T SNP ZNF107 NM_001013746 human genbank 54_36p 1 validated missense c.116 p.Y39F 0.16 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CRCP 27297 broad.mit.edu 36 7 65217335 65217335 + 5'UTR SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 65217335 65217335 G A SNP CRCP NM_014478 human genbank 54_36p 1 reviewed 5_prime_untranslated_region c.-50 NULL 0 - - - no_errors KCTD7 154881 broad.mit.edu 36 7 65741600 65741600 + Silent SNP G G C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 65741600 65741600 G C SNP KCTD7 NM_153033 human genbank 54_36p 1 validated silent c.816 p.V272 1 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" - no_errors RABGEF1 27342 broad.mit.edu 36 7 65907680 65907680 + Silent SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 65907680 65907680 T C SNP RABGEF1 NM_014504 human genbank 54_36p 1 validated silent c.939 p.D313 1 "superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9" "HMMPfam_zf-A20,HMMSmart_ZnF_A20,superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9" - no_errors C7orf42 55069 broad.mit.edu 36 7 66047479 66047479 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 66047479 66047479 G C SNP C7orf42 NM_017994 human genbank 54_36p 1 validated missense c.241 p.D81H 1 NULL NULL - no_errors SBDS 51119 broad.mit.edu 36 7 66093671 66093671 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 66093671 66093671 T A SNP SBDS NM_016038 human genbank 54_36p -1 reviewed missense c.512 p.H171L 1 HMMPfam_SBDS_C "superfamily_FYSH domain,HMMPfam_SBDS,PatternScan_UPF0023,superfamily_Hypothetical protein AF0491 middle domain,HMMPfam_SBDS_C" - no_errors TYW1 55253 broad.mit.edu 36 7 66169767 66169767 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 66169767 66169767 C G SNP TYW1 NM_018264 human genbank 54_36p 1 validated missense c.1216 p.R406G 1 NULL "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes,HMMPfam_Wyosine_form" - no_errors AUTS2 26053 broad.mit.edu 36 7 69874524 69874524 + Silent SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 69874524 69874524 C T SNP AUTS2 NM_015570 human genbank 54_36p 1 validated silent c.1788 p.P596 1 NULL NULL - no_errors AUTS2 26053 broad.mit.edu 36 7 69893124 69893124 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 69893124 69893124 G A SNP AUTS2 NM_015570 human genbank 54_36p 1 validated missense c.2986 p.A996T 0.99 NULL NULL - no_errors WBSCR17 64409 broad.mit.edu 36 7 70491247 70491247 + Silent SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 70491247 70491247 C T SNP WBSCR17 NM_022479 human genbank 54_36p 1 reviewed silent c.513 p.S171 0.21 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors TRIM50 135892 broad.mit.edu 36 7 72365147 72365147 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 72365147 72365147 C G SNP TRIM50 NM_178125 human genbank 54_36p -1 provisional missense c.1170 p.K390N 1 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors BAZ1B 9031 broad.mit.edu 36 7 72522647 72522647 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 72522647 72522647 C T SNP BAZ1B NM_032408 human genbank 54_36p -1 reviewed missense c.2696 p.R899H 1 NULL "HMMPfam_WAC_Acf1_DNA_bd,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BAZ1B 9031 broad.mit.edu 36 7 72529330 72529330 + Silent SNP T T C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 72529330 72529330 T C SNP BAZ1B NM_032408 human genbank 54_36p -1 reviewed silent c.2397 p.K799 1 NULL "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_WAC_Acf1_DNA_bd,PatternScan_BROMODOMAIN_1,HMMSmart_SM00571,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors BAZ1B 9031 broad.mit.edu 36 7 72545112 72545112 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 72545112 72545112 T A SNP BAZ1B NM_032408 human genbank 54_36p -1 reviewed missense c.647 p.K216I 1 NULL "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_WAC_Acf1_DNA_bd,PatternScan_BROMODOMAIN_1,HMMSmart_SM00571,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors BCL7B 9275 broad.mit.edu 36 7 72604447 72604447 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 72604447 72604447 T A SNP BCL7B NM_001707 human genbank 54_36p -1 reviewed missense c.154 p.T52S 1 HMMPfam_BCL_N HMMPfam_BCL_N - no_errors MLXIPL 51085 broad.mit.edu 36 7 72648536 72648536 + Silent SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 72648536 72648536 G A SNP MLXIPL NM_032951 human genbank 54_36p -1 reviewed silent c.1941 p.T647 0.48 superfamily_HLH helix-loop-helix DNA-binding domain "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors VPS37D 155382 broad.mit.edu 36 7 72723373 72723374 + Missense_Mutation DNP AC AC TT novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 72723373 72723374 AC TT DNP VPS37D NM_001077621 human genbank 54_36p 1 validated missense c.487_488 p.T163L 0.952:0.905 HMMPfam_Mod_r HMMPfam_Mod_r - no_errors ELN 2006 broad.mit.edu 36 7 73093497 73093497 + Missense_Mutation SNP C C A rs41350445 Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 73093497 73093497 C A SNP ELN NM_000501 human genbank 54_36p 1 reviewed missense c.212 p.A71E 0 NULL "PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES" - no_errors ELN 2006 broad.mit.edu 36 7 73107035 73107035 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 73107035 73107035 G A SNP ELN NM_000501 human genbank 54_36p 1 reviewed missense c.1150 p.G384R 0.97 NULL "PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES" - no_errors ELN 2006 broad.mit.edu 36 7 73109929 73109929 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 73109929 73109929 G T SNP ELN NM_000501 human genbank 54_36p 1 reviewed missense c.1381 p.A461S 0.97 NULL "PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES" - no_errors GTF2IRD1 9569 broad.mit.edu 36 7 73560391 73560391 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 73560391 73560391 C T SNP GTF2IRD1 NM_016328 human genbank 54_36p 1 reviewed silent c.45 p.C15 1 NULL HMMPfam_GTF2I - no_errors GTF2IRD1 9569 broad.mit.edu 36 7 73643201 73643201 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 73643201 73643201 C A SNP GTF2IRD1 NM_016328 human genbank 54_36p 1 reviewed missense c.2555 p.P852H 1 HMMPfam_GTF2I HMMPfam_GTF2I - no_errors GTF2IRD2 84163 broad.mit.edu 36 7 73849753 73849753 + Silent SNP C C T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 73849753 73849753 C T SNP GTF2IRD2 NM_173537 human genbank 54_36p -1 validated silent c.2034 p.V678 0.99 NULL HMMPfam_GTF2I - no_errors SPDYE5 442590 broad.mit.edu 36 7 74962437 74962437 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 74962437 74962437 T C SNP SPDYE5 ENST00000301990 human ensembl 54_36p 1 known missense c.67 p.C23R 0 NULL NULL - no_errors HIP1 3092 broad.mit.edu 36 7 75021418 75021418 + Silent SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 75021418 75021418 G C SNP HIP1 NM_005338 human genbank 54_36p -1 reviewed silent c.2088 p.A696 1 NULL "HMMPfam_ANTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273,superfamily_ARM repeat,superfamily_I/LWEQ domain (Pfam 01608),HMMSmart_SM00307,HMMPfam_I_LWEQ" - no_errors HIP1 3092 broad.mit.edu 36 7 75025480 75025480 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 75025480 75025480 T G SNP HIP1 NM_005338 human genbank 54_36p -1 reviewed missense c.1391 p.N464T 1 NULL "HMMPfam_I_LWEQ,HMMSmart_SM00307,superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_ARM repeat,superfamily_I/LWEQ domain (Pfam 01608)" - no_errors POR 5447 broad.mit.edu 36 7 75453614 75453614 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 75453614 75453614 A T SNP POR NM_000941 human genbank 54_36p 1 reviewed missense c.1922 p.D641V 1 "superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1" - no_errors MDH2 4191 broad.mit.edu 36 7 75533567 75533567 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 75533567 75533567 A G SNP MDH2 NM_005918 human genbank 54_36p 1 reviewed missense c.920 p.K307R 1 "superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C" "superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N,PatternScan_MDH,superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C" - no_errors YWHAG 7532 broad.mit.edu 36 7 75797285 75797286 + Missense_Mutation DNP AC AC TT novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 75797285 75797286 AC TT DNP YWHAG NM_012479 human genbank 54_36p -1 reviewed missense c.289_288 p.C97S 1.000:0.882 "superfamily_14-3-3 protein,HMMPfam_14-3-3,HMMSmart_SM00101" "superfamily_14-3-3 protein,HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,PatternScan_1433_2" - no_errors YWHAG 7532 broad.mit.edu 36 7 75797405 75797405 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 75797405 75797405 G A SNP YWHAG NM_012479 human genbank 54_36p -1 reviewed missense c.169 p.R57C 1 "HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein" "HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,PatternScan_1433_2,superfamily_14-3-3 protein" - no_errors RSBN1L 222194 broad.mit.edu 36 7 77163736 77163736 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 77163736 77163736 C T SNP RSBN1L NM_198467 human genbank 54_36p 1 validated missense c.14 p.P5L 1 NULL NULL - no_errors RSBN1L 222194 broad.mit.edu 36 7 77245929 77245929 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 77245929 77245929 T A SNP RSBN1L NM_198467 human genbank 54_36p 1 validated missense c.2049 p.S683R 1 NULL NULL - no_errors MAGI2 9863 broad.mit.edu 36 7 77627333 77627333 + Silent SNP G G T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 77627333 77627333 G T SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed silent c.2790 p.G930 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" ############################################################################################################################################################################################################################################################### - no_errors MAGI2 9863 broad.mit.edu 36 7 77723552 77723552 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 77723552 77723552 C T SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed missense c.1691 p.R564Q 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MAGI2 9863 broad.mit.edu 36 7 78474351 78474351 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 78474351 78474351 T G SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed missense c.409 p.T137P 1 "HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors HGF 3082 broad.mit.edu 36 7 81196910 81196910 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 81196910 81196910 C T SNP HGF NM_000601 human genbank 54_36p -1 reviewed nonsense c.987 p.W329* 1 "superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle" "HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,HMMSmart_SM00473,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" - no_errors CACNA2D1 781 broad.mit.edu 36 7 81429721 81429721 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 81429721 81429721 C A SNP CACNA2D1 NM_000722 human genbank 54_36p -1 reviewed missense c.2807 p.S936I 1 NULL "HMMPfam_VWA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2" - no_errors CACNA2D1 781 broad.mit.edu 36 7 81436219 81436219 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 81436219 81436219 C T SNP CACNA2D1 NM_000722 human genbank 54_36p -1 reviewed missense c.2315 p.G772E 1 NULL "HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Cache_1,HMMPfam_VWA_N,HMMPfam_VGCC_alpha2,superfamily_SSF53300" - no_errors CACNA2D1 781 broad.mit.edu 36 7 81552087 81552087 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 81552087 81552087 C T SNP CACNA2D1 NM_000722 human genbank 54_36p -1 reviewed missense c.592 p.E198K 0.99 HMMPfam_VWA_N "HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Cache_1,HMMPfam_VWA_N,HMMPfam_VGCC_alpha2,superfamily_SSF53300" - no_errors PCLO 27445 broad.mit.edu 36 7 82382277 82382277 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 82382277 82382277 C T SNP PCLO NM_033026 human genbank 54_36p -1 validated missense c.12961 p.A4321T 1 NULL "superfamily_FYVE/PHD zinc finger,HMMPfam_zf-piccolo,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors PCLO 27445 broad.mit.edu 36 7 82419794 82419794 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 82419794 82419794 G A SNP PCLO NM_033026 human genbank 54_36p -1 validated missense c.8411 p.A2804V 0.01 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_zf-piccolo,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors PCLO 27445 broad.mit.edu 36 7 82423663 82423663 + Silent SNP T T C novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 82423663 82423663 T C SNP PCLO NM_033026 human genbank 54_36p -1 validated silent c.4542 p.E1514 0.99 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_zf-piccolo,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors SEMA3E 9723 broad.mit.edu 36 7 82957408 82957408 + Silent SNP T T C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 82957408 82957408 T C SNP SEMA3E NM_012431 human genbank 54_36p -1 provisional silent c.234 p.V78 0.97 "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors SEMA3E 9723 broad.mit.edu 36 7 82957428 82957428 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 82957428 82957428 C G SNP SEMA3E NM_012431 human genbank 54_36p -1 provisional missense c.214 p.V72L 1 "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema" "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,HMMPfam_ig,superfamily_Plexin-like_fold,superfamily_SSF48726" - no_errors SEMA3A 10371 broad.mit.edu 36 7 83602188 83602188 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 83602188 83602188 T A SNP SEMA3A NM_006080 human genbank 54_36p -1 reviewed missense c.128 p.N43I 1 superfamily_Sema "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors SEMA3D 223117 broad.mit.edu 36 7 84474061 84474061 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 84474061 84474061 C G SNP SEMA3D NM_152754 human genbank 54_36p -1 validated missense c.1901 p.R634P 1 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" - no_errors GRM3 2913 broad.mit.edu 36 7 86306941 86306941 + Silent SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 86306941 86306941 A G SNP GRM3 NM_000840 human genbank 54_36p 1 reviewed silent c.2175 p.T725 0.87 HMMPfam_7tm_3 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors KIAA1324L 222223 broad.mit.edu 36 7 86379340 86379340 + Splice_Site SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 86379340 86379340 C T SNP KIAA1324L ENST00000335407 human ensembl 54_36p -1 known splice_site c.1431+2 e11+2 1 - - - no_errors KIAA1324L 222223 broad.mit.edu 36 7 86382045 86382045 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 86382045 86382045 G T SNP KIAA1324L NM_152748 human genbank 54_36p -1 validated missense c.941 p.T314N 1 superfamily_Grow_fac_recept "superfamily_Man6php_recept,superfamily_Grow_fac_recept,HMMPfam_NCD3G" - no_errors KIAA1324L 222223 broad.mit.edu 36 7 86394155 86394155 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 86394155 86394155 T C SNP KIAA1324L NM_152748 human genbank 54_36p -1 validated missense c.383 p.Y128C 1 NULL "superfamily_Man6php_recept,superfamily_Grow_fac_recept,HMMPfam_NCD3G" - no_errors KIAA1324L 222223 broad.mit.edu 36 7 86394166 86394166 + Silent SNP T T G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 86394166 86394166 T G SNP KIAA1324L NM_152748 human genbank 54_36p -1 validated silent c.372 p.T124 1 NULL "superfamily_Man6php_recept,superfamily_Grow_fac_recept,HMMPfam_NCD3G" - no_errors CROT 54677 broad.mit.edu 36 7 86865895 86865895 + Nonstop_Mutation SNP A A G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 86865895 86865895 A G SNP CROT NM_021151 human genbank 54_36p 1 reviewed nonstop c.1838 p.*613W 1 NULL "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2" - no_errors ABCB1 5243 broad.mit.edu 36 7 86982512 86982512 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 86982512 86982512 G A SNP ABCB1 NM_000927 human genbank 54_36p -1 reviewed missense c.3253 p.R1085W 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB1 5243 broad.mit.edu 36 7 87008683 87008683 + Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 87008683 87008683 G A SNP ABCB1 NM_000927 human genbank 54_36p -1 reviewed nonsense c.2245 p.R749* 0 "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCB1 5243 broad.mit.edu 36 7 87011427 87011427 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 87011427 87011427 C A SNP ABCB1 NM_000927 human genbank 54_36p -1 reviewed missense c.2165 p.G722V 1 "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DBF4 10926 broad.mit.edu 36 7 87374784 87374784 + Silent SNP C C G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 87374784 87374784 C G SNP DBF4 NM_006716 human genbank 54_36p 1 validated silent c.1395 p.S465 0.13 NULL "HMMPfam_zf-DBF,HMMSmart_SM00586" - no_errors ADAM22 53616 broad.mit.edu 36 7 87598675 87598675 + Silent SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 87598675 87598675 T C SNP ADAM22 NM_021723 human genbank 54_36p 1 reviewed silent c.981 p.V327 0.99 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" ############################################################################################################################################################################################################################################################### - no_errors ADAM22 53616 broad.mit.edu 36 7 87600175 87600175 + Silent SNP G G A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 87600175 87600175 G A SNP ADAM22 NM_021723 human genbank 54_36p 1 reviewed silent c.1050 p.S350 0.92 "HMMPfam_Reprolysin,superfamily_Metalloproteases (zincins) catalytic domain" ############################################################################################################################################################################################################################################################### - no_errors ADAM22 53616 broad.mit.edu 36 7 87601635 87601635 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 87601635 87601635 T C SNP ADAM22 NM_021723 human genbank 54_36p 1 reviewed missense c.1133 p.I378T 1 "HMMPfam_Reprolysin,superfamily_Metalloproteases (zincins) catalytic domain" ############################################################################################################################################################################################################################################################### - no_errors ZNF804B 219578 broad.mit.edu 36 7 88801387 88801387 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 88801387 88801387 T A SNP ZNF804B NM_181646 human genbank 54_36p 1 provisional missense c.1155 p.D385E 0.98 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF804B 219578 broad.mit.edu 36 7 88802287 88802287 + Silent SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 88802287 88802287 C A SNP ZNF804B NM_181646 human genbank 54_36p 1 provisional silent c.2055 p.T685 0 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF804B 219578 broad.mit.edu 36 7 88802338 88802338 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 88802338 88802338 G C SNP ZNF804B NM_181646 human genbank 54_36p 1 provisional missense c.2106 p.Q702H 0 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF804B 219578 broad.mit.edu 36 7 88803028 88803028 + Silent SNP A A G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 88803028 88803028 A G SNP ZNF804B NM_181646 human genbank 54_36p 1 provisional silent c.2796 p.V932 0.88 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors STEAP2 261729 broad.mit.edu 36 7 89692768 89692768 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 89692768 89692768 T C SNP STEAP2 NM_001040665 human genbank 54_36p 1 reviewed missense c.436 p.F146L 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_F420_oxidored" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_F420_oxidored,HMMPfam_Ferric_reduct" - no_errors C7orf63 79846 broad.mit.edu 36 7 89776561 89776561 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 89776561 89776561 A C SNP C7orf63 NM_001039706 human genbank 54_36p 1 validated missense c.2461 p.K821Q 0 NULL superfamily_ARM-type_fold - no_errors FZD1 8321 broad.mit.edu 36 7 90732932 90732932 + Silent SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 90732932 90732932 C T SNP FZD1 NM_003505 human genbank 54_36p 1 reviewed silent c.801 p.G267 0.03 NULL "HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled" - no_errors AKAP9 10142 broad.mit.edu 36 7 91547318 91547318 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 91547318 91547318 A T SNP AKAP9 NM_005751 human genbank 54_36p 1 reviewed missense c.7935 p.E2645D 0.69 NULL "PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil" - no_errors AKAP9 10142 broad.mit.edu 36 7 91550465 91550465 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 91550465 91550465 G T SNP AKAP9 NM_005751 human genbank 54_36p 1 reviewed missense c.8206 p.V2736F 0.12 NULL "PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil" - no_errors AKAP9 10142 broad.mit.edu 36 7 91550881 91550881 + Silent SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 91550881 91550881 G A SNP AKAP9 NM_005751 human genbank 54_36p 1 reviewed silent c.8622 p.V2874 0.96 NULL "PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil" - no_errors PEX1 5189 broad.mit.edu 36 7 91985096 91985096 + Silent SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 91985096 91985096 C T SNP PEX1 NM_000466 human genbank 54_36p -1 reviewed silent c.669 p.V223 0 NULL "superfamily_Cdc48 domain 2-like,HMMPfam_PEX-2N,superfamily_ADC-like,HMMPfam_PEX-1N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors C7orf64 84060 broad.mit.edu 36 7 92002185 92002185 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 92002185 92002185 A G SNP C7orf64 NM_032120 human genbank 54_36p 1 validated missense c.982 p.T328A 0.94 NULL superfamily_RNA-binding domain RBD - no_errors C7orf64 84060 broad.mit.edu 36 7 92002196 92002196 + Silent SNP T T C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 92002196 92002196 T C SNP C7orf64 NM_032120 human genbank 54_36p 1 validated silent c.993 p.N331 0.04 NULL superfamily_RNA-binding domain RBD - no_errors FAM133B 257415 broad.mit.edu 36 7 92033277 92033277 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 92033277 92033277 C T SNP FAM133B NM_152789 human genbank 54_36p -1 validated missense c.644 p.R215Q 1 NULL NULL - no_errors SAMD9 54809 broad.mit.edu 36 7 92571071 92571071 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 92571071 92571071 C G SNP SAMD9 NM_017654 human genbank 54_36p -1 validated missense c.2276 p.R759T 1 NULL "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors SAMD9L 219285 broad.mit.edu 36 7 92599149 92599149 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 92599149 92599149 C A SNP SAMD9L NM_152703 human genbank 54_36p -1 validated nonsense c.4072 p.E1358* 0.99 NULL superfamily_SAM/Pointed domain - no_errors SAMD9L 219285 broad.mit.edu 36 7 92601563 92601564 + Frame_Shift_Ins INS - C - novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 92601563 92601564 - C INS SAMD9L NM_152703 human genbank 54_36p -1 validated frame_shift_ins c.1658_1657 p.V553fs 0.192:0.197 NULL superfamily_SAM/Pointed domain - no_errors HEPACAM2 253012 broad.mit.edu 36 7 92663113 92663113 + Silent SNP T T C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 92663113 92663113 T C SNP HEPACAM2 NM_001039372 human genbank 54_36p -1 provisional silent c.1239 p.E413 1 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408" - no_errors HEPACAM2 253012 broad.mit.edu 36 7 92682755 92682755 + Missense_Mutation SNP G G C rs35608547 Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 92682755 92682755 G C SNP HEPACAM2 NM_001039372 human genbank 54_36p -1 provisional missense c.610 p.L204V 0.97 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors HEPACAM2 253012 broad.mit.edu 36 7 92682905 92682905 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 92682905 92682905 G C SNP HEPACAM2 NM_001039372 human genbank 54_36p -1 provisional missense c.460 p.H154D 0.1 superfamily_Immunoglobulin "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors CCDC132 55610 broad.mit.edu 36 7 92764000 92764000 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 92764000 92764000 T G SNP CCDC132 NM_017667 human genbank 54_36p 1 validated missense c.1178 p.L393R 1 NULL "HMMPfam_DUF2450,HMMPfam_DUF2451" - no_errors CCDC132 55610 broad.mit.edu 36 7 92808792 92808792 + Silent SNP T T C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 92808792 92808792 T C SNP CCDC132 NM_017667 human genbank 54_36p 1 validated silent c.2176 p.L726 0.98 HMMPfam_DUF2451 "HMMPfam_DUF2451,HMMPfam_DUF2450" - no_errors CALCR 799 broad.mit.edu 36 7 92946674 92946674 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 92946674 92946674 G A SNP CALCR NM_001742 human genbank 54_36p -1 validated nonsense c.133 p.R45* 0 superfamily_SSF111418 "superfamily_SSF111418,superfamily_SSF81321,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors CALCR 799 broad.mit.edu 36 7 92946683 92946683 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 92946683 92946683 C T SNP CALCR NM_001742 human genbank 54_36p -1 validated missense c.124 p.V42I 0 superfamily_SSF111418 "HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_HormR,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF111418,superfamily_SSF81321" - no_errors COL1A2 1278 broad.mit.edu 36 7 93890328 93890328 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 93890328 93890328 G A SNP COL1A2 NM_000089 human genbank 54_36p 1 reviewed missense c.2527 p.A843T 0.13 HMMPfam_Collagen "HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors SGCE 8910 broad.mit.edu 36 7 94086198 94086198 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 94086198 94086198 G A SNP SGCE NM_001099401 human genbank 54_36p -1 reviewed missense c.470 p.P157L 1 "HMMPfam_Sarcoglycan_2,HMMSmart_SM00736" "HMMPfam_Sarcoglycan_2,superfamily_Cadherin-like,HMMSmart_SM00736" - no_errors PPP1R9A 55607 broad.mit.edu 36 7 94665648 94665648 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 94665648 94665648 G C SNP PPP1R9A NM_017650 human genbank 54_36p 1 validated missense c.1806 p.L602F 1 superfamily_PDZ domain-like "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors DLX6 5166 broad.mit.edu 36 7 96474989 96474989 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 96474989 96474989 G T SNP DLX6 NM_005222 human genbank 54_36p 1 reviewed missense c.456 p.Q152H 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors DLX6 5166 broad.mit.edu 36 7 96477083 96477083 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 96477083 96477083 A T SNP DLX6 NM_005222 human genbank 54_36p 1 reviewed nonsense c.586 p.K196* 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors DLX5 1749 broad.mit.edu 36 7 96491753 96491753 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 96491753 96491753 G C SNP DLX5 NM_005221 human genbank 54_36p -1 reviewed missense c.119 p.S40C 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ACN9 57001 broad.mit.edu 36 7 96585054 96585054 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 96585054 96585054 A G SNP ACN9 NM_020186 human genbank 54_36p 1 validated missense c.83 p.K28R 1 HMMPfam_ACN9 HMMPfam_ACN9 - no_errors BAIAP2L1 55971 broad.mit.edu 36 7 97775009 97775009 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 97775009 97775009 C G SNP BAIAP2L1 NM_018842 human genbank 54_36p -1 provisional missense c.1091 p.G364A 1 "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" "HMMPfam_IMD,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" - no_errors TRRAP 8295 broad.mit.edu 36 7 98351404 98351404 + Silent SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 98351404 98351404 C A SNP TRRAP NM_003496 human genbank 54_36p 1 validated silent c.2322 p.L774 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC" - no_errors TRRAP 8295 broad.mit.edu 36 7 98391788 98391788 + Silent SNP C C T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 98391788 98391788 C T SNP TRRAP NM_003496 human genbank 54_36p 1 validated silent c.5946 p.I1982 0.42 superfamily_ARM repeat "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_COPPER_BLUE,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like" - no_errors TRRAP 8295 broad.mit.edu 36 7 98411725 98411725 + Silent SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 98411725 98411725 C T SNP TRRAP NM_003496 human genbank 54_36p 1 validated silent c.7782 p.S2594 1 superfamily_ARM repeat "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_COPPER_BLUE,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like" - no_errors SMURF1 57154 broad.mit.edu 36 7 98473957 98473957 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 98473957 98473957 C A SNP SMURF1 NM_020429 human genbank 54_36p -1 reviewed nonsense c.1756 p.E586* 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors BUD31 8896 broad.mit.edu 36 7 98846658 98846658 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 98846658 98846658 A G SNP BUD31 NM_003910 human genbank 54_36p 1 validated missense c.7 p.K3E 1 HMMPfam_G10 "HMMPfam_G10,PatternScan_G10_1,PatternScan_G10_2" - no_errors PTCD1 26024 broad.mit.edu 36 7 98859514 98859514 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 98859514 98859514 C T SNP PTCD1 NM_015545 human genbank 54_36p -1 validated silent c.1740 p.K580 0.21 NULL HMMPfam_PPR - no_errors ATP5J2 9551 broad.mit.edu 36 7 98895697 98895697 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 98895697 98895697 C G SNP ATP5J2 NM_004889 human genbank 54_36p -1 reviewed missense c.87 p.W29C 1 HMMPfam_WRW HMMPfam_WRW - no_errors ZKSCAN5 23660 broad.mit.edu 36 7 98961610 98961610 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 98961610 98961610 G C SNP ZKSCAN5 NM_014569 human genbank 54_36p 1 reviewed missense c.1011 p.K337N 0.37 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FAM200A 221786 broad.mit.edu 36 7 98983233 98983233 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 98983233 98983233 C T SNP C7orf38 NM_145111 human genbank 54_36p -1 validated missense c.734 p.R245Q 0.99 NULL NULL - no_errors ZNF655 79027 broad.mit.edu 36 7 99008893 99008893 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99008893 99008893 A G SNP ZNF655 NM_001083956 human genbank 54_36p 1 reviewed missense c.1331 p.E444G 0.58 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors AZGP1 563 broad.mit.edu 36 7 99403866 99403866 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99403866 99403866 C G SNP AZGP1 NM_001185 human genbank 54_36p -1 validated missense c.461 p.W154S 0.97 "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain" "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors ZKSCAN1 7586 broad.mit.edu 36 7 99468905 99468905 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99468905 99468905 G T SNP ZKSCAN1 NM_003439 human genbank 54_36p 1 validated missense c.841 p.A281S 0.19 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZSCAN21 7589 broad.mit.edu 36 7 99492938 99492938 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99492938 99492938 C T SNP ZSCAN21 NM_145914 human genbank 54_36p 1 validated missense c.373 p.R125W 0.76 "HMMPfam_SCAN,HMMSmart_SM00431" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF3 7551 broad.mit.edu 36 7 99506938 99506938 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99506938 99506938 C T SNP ZNF3 NM_032924 human genbank 54_36p -1 validated missense c.1105 p.E369K 0.1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GAL3ST4 79690 broad.mit.edu 36 7 99595804 99595804 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 99595804 99595804 C G SNP GAL3ST4 NM_024637 human genbank 54_36p -1 reviewed missense c.1144 p.E382Q 0.3 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors GAL3ST4 79690 broad.mit.edu 36 7 99596339 99596339 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 99596339 99596339 G C SNP GAL3ST4 NM_024637 human genbank 54_36p -1 reviewed missense c.609 p.D203E 0.95 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors GAL3ST4 79690 broad.mit.edu 36 7 99596462 99596462 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99596462 99596462 C T SNP GAL3ST4 NM_024637 human genbank 54_36p -1 reviewed silent c.486 p.A162 0.03 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors STAG3 10734 broad.mit.edu 36 7 99624554 99624554 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 99624554 99624554 C A SNP STAG3 NM_012447 human genbank 54_36p 1 validated missense c.694 p.R232S 1 "superfamily_ARM repeat,HMMPfam_STAG" "superfamily_ARM repeat,HMMPfam_STAG" - no_errors AGFG2 3268 broad.mit.edu 36 7 99999427 99999451 + Frame_Shift_Del DEL CTTCCCCCAGGCAGTGCCACCCACT - CTTCCCCCAGGCAGTGCCACCCACT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CTTCCCCCAGGCAGTGCCACCCACT CTTCCCCCAGGCAGTGCCACCCACT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 99999427 99999451 CTTCCCCCAGGCAGTGCCACCCACT - DEL AGFG2 NM_006076 human genbank 54_36p 1 reviewed frame_shift_del c.1206_1230 p.F403fs 0.998:0.997:0.995:0.986:0.983:0.983:0.981:0.982:0.981:0.973:0.929:0.928:0.905:0.896:0.818:0.785:0.764:0.630:0.401:0.372:0.327:0.057:0.015:0.011:0.004 NULL "HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap" "(deletion:cds_exon[99999393,99999521])" no_errors MOSPD3 64598 broad.mit.edu 36 7 100050739 100050739 + Silent SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100050739 100050739 C G SNP MOSPD3 NM_001040097 human genbank 54_36p 1 reviewed silent c.705 p.T235 1 NULL "HMMPfam_Motile_Sperm,superfamily_PapD-like" - no_errors TFR2 7036 broad.mit.edu 36 7 100056646 100056646 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 100056646 100056646 C T SNP TFR2 NM_003227 human genbank 54_36p -1 reviewed missense c.2176 p.D726N 1 "superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" "superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" - no_errors ACTL6B 51412 broad.mit.edu 36 7 100081855 100081855 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100081855 100081855 C A SNP ACTL6B NM_016188 human genbank 54_36p -1 reviewed nonsense c.1153 p.E385* 1 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "HMMPfam_Actin,superfamily_SSF53067,HMMSmart_ACTIN,PatternScan_ACTINS_2" - no_errors ZAN 7455 broad.mit.edu 36 7 100202212 100202212 + Silent SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100202212 100202212 C T SNP ZAN ENST00000349350 human ensembl 54_36p 1 known silent c.4599 p.G1533 1 "HMMPfam_TIL_assoc,HMMSmart_SM00214,HMMSmart_SM00215,HMMSmart_SM00216" ############################################################################################################################################################################################################################################################### - no_errors ZAN 7455 broad.mit.edu 36 7 100215053 100215053 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100215053 100215053 G T SNP ZAN ENST00000349350 human ensembl 54_36p 1 known nonsense c.6364 p.E2122* 0 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHB4 2050 broad.mit.edu 36 7 100259367 100259367 + Silent SNP G G T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 100259367 100259367 G T SNP EPHB4 NM_004444 human genbank 54_36p -1 reviewed silent c.246 p.G82 0.02 "superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615" ############################################################################################################################################################################################################################################################### - no_errors SRRT 51593 broad.mit.edu 36 7 100320536 100320536 + Silent SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100320536 100320536 C T SNP SRRT NM_015908 human genbank 54_36p 1 validated silent c.1098 p.S366 0.89 NULL HMMPfam_ARS2 - no_errors MUC17 140453 broad.mit.edu 36 7 100461809 100461809 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100461809 100461809 G C SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.392 p.S131T 0.01 NULL "superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_errors MUC17 140453 broad.mit.edu 36 7 100465211 100465211 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100465211 100465211 G T SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.3794 p.G1265V 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100466962 100466962 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100466962 100466962 C G SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.5545 p.P1849A 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100467963 100467963 + Silent SNP A A T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 100467963 100467963 A T SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.6546 p.S2182 0.24 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100468359 100468359 + Silent SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 100468359 100468359 T A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.6942 p.T2314 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100469055 100469055 + Silent SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100469055 100469055 G A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.7638 p.V2546 0.01 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100469992 100469992 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100469992 100469992 G A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.8575 p.V2859M 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100470834 100470834 + Silent SNP T T A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100470834 100470834 T A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional silent c.9417 p.S3139 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100471955 100471955 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100471955 100471955 G T SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.10538 p.G3513V 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100471957 100471957 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100471957 100471957 G T SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional nonsense c.10540 p.E3514* 0.06 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100472480 100472480 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 100472480 100472480 C A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.11063 p.T3688K 0.02 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors MUC17 140453 broad.mit.edu 36 7 100473368 100473368 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100473368 100473368 C A SNP MUC17 NM_001040105 human genbank 54_36p 1 provisional missense c.11951 p.S3984Y 0.98 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain" - no_errors C7orf52 375607 broad.mit.edu 36 7 100602336 100602336 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 100602336 100602336 G T SNP C7orf52 NM_198571 human genbank 54_36p -1 predicted missense c.854 p.P285H 1 NULL superfamily_Acyl-CoA N-acyltransferases (Nat) - no_errors MOGAT3 346606 broad.mit.edu 36 7 100625957 100625957 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100625957 100625957 G T SNP MOGAT3 NM_178176 human genbank 54_36p -1 provisional missense c.1016 p.T339N 0.95 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors MOGAT3 346606 broad.mit.edu 36 7 100628804 100628804 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 100628804 100628804 C A SNP MOGAT3 NM_178176 human genbank 54_36p -1 provisional missense c.316 p.D106Y 0 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors MOGAT3 346606 broad.mit.edu 36 7 100630814 100630814 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 100630814 100630814 T G SNP MOGAT3 NM_178176 human genbank 54_36p -1 provisional missense c.42 p.K14N 0 NULL HMMPfam_DAGAT - no_errors PLOD3 8985 broad.mit.edu 36 7 100636352 100636353 + Missense_Mutation DNP GT GT TG novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 100636352 100636353 GT TG DNP PLOD3 NM_001084 human genbank 54_36p -1 reviewed missense c.2147_2146 p.T716H 1.000:1.000 "HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy" "HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE" - no_errors PLOD3 8985 broad.mit.edu 36 7 100640600 100640609 + Frame_Shift_Del DEL TGGGGCAGCT - TGGGGCAGCT novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 TGGGGCAGCT TGGGGCAGCT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 100640600 100640609 TGGGGCAGCT - DEL PLOD3 NM_001084 human genbank 54_36p -1 reviewed frame_shift_del c.1433_1424 p.E475fs 0.885:0.933:0.965:0.981:0.981:0.974:0.968:0.841:0.686:0.668 NULL "HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE" "(deletion:cds_exon[100640533,100640674])" no_errors PLOD3 8985 broad.mit.edu 36 7 100643184 100643184 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100643184 100643184 T A SNP PLOD3 NM_001084 human genbank 54_36p -1 reviewed missense c.701 p.D234V 0.72 NULL "PatternScan_LYS_HYDROXYLASE,HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702" - no_errors EMID2 136227 broad.mit.edu 36 7 100793114 100793114 + Silent SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 100793114 100793114 C T SNP EMID2 ENST00000397927 human ensembl 54_36p 1 known silent c.81 p.F27 0.9 NULL "HMMPfam_EMI,HMMPfam_Collagen" - no_errors EMID2 136227 broad.mit.edu 36 7 100983345 100983345 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 100983345 100983345 G T SNP EMID2 ENST00000397927 human ensembl 54_36p 1 known missense c.1048 p.G350W 0.92 HMMPfam_Collagen "HMMPfam_Collagen,HMMPfam_EMI" - no_errors CUX1 1523 broad.mit.edu 36 7 101346125 101346125 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 101346125 101346125 A T SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed missense c.41 p.D14V 1 NULL "superfamily_lambda repressor-like DNA-binding domains,HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors CUX1 1523 broad.mit.edu 36 7 101628828 101628828 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 101628828 101628828 C G SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed missense c.1921 p.L641V 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1" - no_errors CUX1 1523 broad.mit.edu 36 7 101631602 101631602 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 101631602 101631602 G A SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed missense c.2305 p.A769T 0 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1" - no_errors CUX1 1523 broad.mit.edu 36 7 101657399 101657399 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 101657399 101657399 C A SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed missense c.3163 p.P1055T 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1" - no_errors CUX1 1523 broad.mit.edu 36 7 101669478 101669478 + Silent SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 101669478 101669478 C A SNP CUX1 NM_181552 human genbank 54_36p 1 reviewed silent c.3781 p.R1261 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1" - no_errors ORAI2 80228 broad.mit.edu 36 7 101866527 101866527 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 101866527 101866527 C T SNP ORAI2 NM_032831 human genbank 54_36p 1 validated missense c.119 p.S40F 0.98 HMMPfam_DUF1650 HMMPfam_DUF1650 - no_errors LRWD1 222229 broad.mit.edu 36 7 101893502 101893515 + Splice_Site DEL CGGTAAGTGGGAGC - CGGTAAGTGGGAGC novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 CGGTAAGTGGGAGC CGGTAAGTGGGAGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 101893502 101893515 CGGTAAGTGGGAGC - DEL LRWD1 NM_152892 human genbank 54_36p 1 provisional splice_site_del c.314_315 p.T105fs 0.991:0.576 superfamily_SSF52058 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" "(deletion:cds_exon[101893269,101893503], intron[101893504,101893605])" no_errors PMPCB 9512 broad.mit.edu 36 7 102725215 102725215 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 102725215 102725215 C G SNP PMPCB NM_004279 human genbank 54_36p 1 reviewed missense c.73 p.L25V 0 NULL "superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C" - no_errors PMPCB 9512 broad.mit.edu 36 7 102736641 102736641 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 102736641 102736641 G C SNP PMPCB NM_004279 human genbank 54_36p 1 reviewed missense c.856 p.V286L 1 "HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd" "PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16" - no_errors RELN 5649 broad.mit.edu 36 7 102911473 102911473 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture Capture Illumina GAIIx 7 102911473 102911473 G C SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.10044 p.D3348E 1 NULL "HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase" - no_errors RELN 5649 broad.mit.edu 36 7 102966978 102966978 + Silent SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 7 102966978 102966978 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed silent c.6963 p.T2321 0.99 NULL "HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196" - no_errors RELN 5649 broad.mit.edu 36 7 103021451 103021451 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 103021451 103021451 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.3826 p.A1276T 1 NULL "HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196" - no_errors RELN 5649 broad.mit.edu 36 7 103089058 103089058 + Splice_Site SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 103089058 103089058 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed splice_site c.1441+1 e12+1 1 - - - no_errors MLL5 55904 broad.mit.edu 36 7 104536839 104536839 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 104536839 104536839 C G SNP MLL5 NM_018682 human genbank 54_36p 1 reviewed missense c.3683 p.S1228C 0.45 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors MLL5 55904 broad.mit.edu 36 7 104540210 104540210 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 104540210 104540210 C G SNP MLL5 NM_018682 human genbank 54_36p 1 reviewed missense c.4771 p.P1591A 1 NULL "HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SET domain" - no_errors SRPK2 6733 broad.mit.edu 36 7 104570849 104570849 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 104570849 104570849 C G SNP SRPK2 NM_182692 human genbank 54_36p -1 validated missense c.978 p.Q326H 0.93 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SRPK2 6733 broad.mit.edu 36 7 104595103 104595103 + Silent SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 104595103 104595103 G A SNP SRPK2 NM_182692 human genbank 54_36p -1 validated silent c.471 p.V157 0.95 "superfamily_Kinase_like,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors RINT1 60561 broad.mit.edu 36 7 104974656 104974656 + Silent SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 104974656 104974656 T G SNP RINT1 NM_021930 human genbank 54_36p 1 validated silent c.579 p.S193 0.64 NULL HMMPfam_RINT1_TIP1 - no_errors CDHR3 222256 broad.mit.edu 36 7 105442888 105442888 + Nonsense_Mutation SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 105442888 105442888 C G SNP FLJ23834 NM_152750 human genbank 54_36p 1 validated nonsense c.1320 p.Y440* 0.92 "superfamily_Cadherin-like,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" - no_errors PIK3CG 5294 broad.mit.edu 36 7 106300612 106300612 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 106300612 106300612 T A SNP PIK3CG NM_002649 human genbank 54_36p 1 reviewed missense c.2280 p.S760R 0.99 superfamily_Protein kinase-like (PK-like) ############################################################################################################################################################################################################################################################### - no_errors PRKAR2B 5577 broad.mit.edu 36 7 106574068 106574068 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 106574068 106574068 G A SNP PRKAR2B NM_002736 human genbank 54_36p 1 reviewed missense c.667 p.E223K 1 "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_2" "superfamily_cAMP-dep_prot_kin_reg_I/II_a/b,HMMPfam_RIIa,HMMSmart_RIIa,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors COG5 10466 broad.mit.edu 36 7 106991578 106991578 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 106991578 106991578 G T SNP COG5 NM_006348 human genbank 54_36p -1 validated missense c.93 p.N31K 1 NULL HMMPfam_COG5 - no_errors COG5 10466 broad.mit.edu 36 7 106991606 106991606 + Frame_Shift_Del DEL G - G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 106991606 106991606 G - DEL COG5 NM_006348 human genbank 54_36p -1 validated frame_shift_del c.65 p.A22fs 0.51 NULL HMMPfam_COG5 "(deletion:cds_exon[106991484,106991670])" no_errors CBLL1 79872 broad.mit.edu 36 7 107186218 107186218 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 107186218 107186218 C T SNP CBLL1 NM_024814 human genbank 54_36p 1 validated nonsense c.835 p.Q279* 1 NULL "PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2" - no_errors SLC26A3 1811 broad.mit.edu 36 7 107211005 107211005 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 107211005 107211005 C G SNP SLC26A3 NM_000111 human genbank 54_36p -1 reviewed missense c.1000 p.E334Q 0 HMMPfam_Sulfate_transp "PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors SLC26A3 1811 broad.mit.edu 36 7 107215046 107215046 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 107215046 107215046 A C SNP SLC26A3 NM_000111 human genbank 54_36p -1 reviewed missense c.880 p.F294V 1 HMMPfam_Sulfate_transp "HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A" - no_errors LAMB1 3912 broad.mit.edu 36 7 107357276 107357276 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 107357276 107357276 A G SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.4562 p.I1521T 1 NULL "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin" - no_errors LAMB1 3912 broad.mit.edu 36 7 107403508 107403508 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 107403508 107403508 A G SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.1051 p.Y351H 0.35 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin" "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Prefoldin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin" - no_errors LAMB4 22798 broad.mit.edu 36 7 107539614 107539614 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 107539614 107539614 C T SNP LAMB4 NM_007356 human genbank 54_36p -1 validated missense c.206 p.C69Y 1 "HMMSmart_SM00136,HMMPfam_Laminin_N" "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors NRCAM 4897 broad.mit.edu 36 7 107605735 107605735 + Silent SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 107605735 107605735 C T SNP NRCAM NM_001037132 human genbank 54_36p -1 reviewed silent c.2910 p.L970 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors NRCAM 4897 broad.mit.edu 36 7 107612214 107612214 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 107612214 107612214 T C SNP NRCAM NM_001037132 human genbank 54_36p -1 reviewed missense c.2116 p.T706A 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors LRRN3 54674 broad.mit.edu 36 7 110550787 110550787 + Silent SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 110550787 110550787 C T SNP LRRN3 NM_001099658 human genbank 54_36p 1 validated silent c.723 p.I241 1 "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00013,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors DOCK4 9732 broad.mit.edu 36 7 111327807 111327807 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 111327807 111327807 C G SNP DOCK4 NM_014705 human genbank 54_36p -1 reviewed missense c.1339 p.G447R 1 NULL "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors TMEM168 64418 broad.mit.edu 36 7 112194929 112194929 + Silent SNP A A C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 112194929 112194929 A C SNP TMEM168 NM_022484 human genbank 54_36p -1 validated silent c.1653 p.P551 0.96 NULL NULL - no_errors C7orf60 154743 broad.mit.edu 36 7 112249203 112249203 + Silent SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 112249203 112249203 C T SNP C7orf60 NM_152556 human genbank 54_36p -1 validated silent c.1050 p.E350 1 NULL NULL - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113305096 113305096 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 113305096 113305096 A G SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.3287 p.I1096T 1 NULL HMMPfam_CBM_21 - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113305739 113305739 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 113305739 113305739 G T SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.2644 p.L882I 0 NULL HMMPfam_CBM_21 - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113306644 113306644 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 113306644 113306644 T A SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.1739 p.D580V 0 NULL HMMPfam_CBM_21 - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113307084 113307084 + Silent SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 7 113307084 113307084 G C SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed silent c.1299 p.G433 0 NULL HMMPfam_CBM_21 - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113307144 113307144 + Silent SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 7 113307144 113307144 T A SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed silent c.1239 p.G413 0.21 NULL HMMPfam_CBM_21 - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113309380 113309380 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 113309380 113309380 C A SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.916 p.D306Y 1 NULL HMMPfam_CBM_21 - no_errors PPP1R3A 5506 broad.mit.edu 36 7 113346029 113346029 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 113346029 113346029 T C SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.259 p.S87G 0 NULL HMMPfam_CBM_21 - no_errors FOXP2 93986 broad.mit.edu 36 7 114057248 114057248 + Silent SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 114057248 114057248 G A SNP FOXP2 NM_148898 human genbank 54_36p 1 reviewed silent c.624 p.Q208 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors FOXP2 93986 broad.mit.edu 36 7 114071986 114071986 + Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 114071986 114071986 G T SNP FOXP2 NM_148898 human genbank 54_36p 1 reviewed nonsense c.1075 p.E359* 1 NULL "HMMPfam_Fork_head,HMMSmart_FH,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_FORK_HEAD_2,superfamily_SSF46785" - no_errors FOXP2 93986 broad.mit.edu 36 7 114089391 114089391 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 114089391 114089391 T A SNP FOXP2 NM_148898 human genbank 54_36p 1 reviewed nonsense c.1758 p.C586* 1 "HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785" "HMMPfam_Fork_head,HMMSmart_FH,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_FORK_HEAD_2,superfamily_SSF46785" - no_errors MET 4233 broad.mit.edu 36 7 116127036 116127036 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 116127036 116127036 A G SNP MET NM_000245 human genbank 54_36p 1 reviewed missense c.662 p.E221G 1 "superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema" ############################################################################################################################################################################################################################################################### - no_errors MET 4233 broad.mit.edu 36 7 116127088 116127088 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 116127088 116127088 A T SNP MET NM_000245 human genbank 54_36p 1 reviewed missense c.714 p.L238F 0.48 "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain" ############################################################################################################################################################################################################################################################### - no_errors MET 4233 broad.mit.edu 36 7 116127172 116127172 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 116127172 116127172 G C SNP MET NM_000245 human genbank 54_36p 1 reviewed missense c.798 p.R266S 0.53 "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain" ############################################################################################################################################################################################################################################################### - no_errors WNT2 7472 broad.mit.edu 36 7 116742442 116742442 + Silent SNP G G A novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 116742442 116742442 G A SNP WNT2 NM_003391 human genbank 54_36p -1 reviewed silent c.507 p.R169 0.98 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors CFTR 1080 broad.mit.edu 36 7 116969347 116969347 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 116969347 116969347 C G SNP CFTR NM_000492 human genbank 54_36p 1 reviewed missense c.1158 p.N386K 1 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors CTTNBP2 83992 broad.mit.edu 36 7 117173346 117173346 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 117173346 117173346 C G SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed missense c.3392 p.S1131T 1 NULL "HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors CTTNBP2 83992 broad.mit.edu 36 7 117219844 117219844 + Silent SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 117219844 117219844 G A SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed silent c.642 p.S214 0 HMMPfam_CortBP2 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_CortBP2" - no_errors ANKRD7 56311 broad.mit.edu 36 7 117652161 117652167 + Frame_Shift_Del DEL CCCGCAG - CCCGCAG novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 CCCGCAG CCCGCAG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 117652161 117652167 CCCGCAG - DEL ANKRD7 NM_001077708 human genbank 54_36p 1 validated frame_shift_del c.41_47 p.S16fs 0.001:0.000:0.000:0.000:0.000:0.001:0.010 superfamily_ANK "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" "(deletion:cds_exon[117652121,117652299])" no_errors ANKRD7 56311 broad.mit.edu 36 7 117667234 117667234 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 117667234 117667234 A C SNP ANKRD7 NM_001077708 human genbank 54_36p 1 validated missense c.808 p.K270Q 0 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" - no_errors KCND2 3751 broad.mit.edu 36 7 119702624 119702624 + Silent SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 119702624 119702624 G T SNP KCND2 NM_012281 human genbank 54_36p 1 reviewed silent c.702 p.T234 0.43 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCND2 3751 broad.mit.edu 36 7 119702804 119702804 + Silent SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 119702804 119702804 C G SNP KCND2 NM_012281 human genbank 54_36p 1 reviewed silent c.882 p.V294 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels" - no_errors TSPAN12 23554 broad.mit.edu 36 7 120216158 120216158 + Silent SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 120216158 120216158 C T SNP TSPAN12 NM_012338 human genbank 54_36p -1 reviewed silent c.642 p.L214 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors ING3 54556 broad.mit.edu 36 7 120396395 120396395 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 120396395 120396395 G C SNP ING3 NM_019071 human genbank 54_36p 1 reviewed missense c.809 p.R270T 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors C7orf58 79974 broad.mit.edu 36 7 120554502 120554502 + Silent SNP A A T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 120554502 120554502 A T SNP C7orf58 NM_024913 human genbank 54_36p 1 validated silent c.1257 p.I419 0.12 NULL NULL - no_errors C7orf58 79974 broad.mit.edu 36 7 120664099 120664099 + Silent SNP A A G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 120664099 120664099 A G SNP C7orf58 NM_024913 human genbank 54_36p 1 validated silent c.2151 p.R717 0.06 NULL NULL - no_errors PTPRZ1 5803 broad.mit.edu 36 7 121437739 121437739 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 121437739 121437739 A T SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed missense c.1403 p.N468I 0.28 NULL "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRZ1 5803 broad.mit.edu 36 7 121461622 121461622 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 121461622 121461622 C A SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed missense c.5238 p.N1746K 1 "HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors PTPRZ1 5803 broad.mit.edu 36 7 121466124 121466124 + Frame_Shift_Del DEL G - G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 121466124 121466124 G - DEL PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed frame_shift_del c.5447 p.E1817fs 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" "(deletion:cds_exon[121466045,121466179])" no_errors AASS 10157 broad.mit.edu 36 7 121543936 121543936 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 121543936 121543936 C G SNP AASS NM_005763 human genbank 54_36p -1 reviewed missense c.881 p.R294P 1 HMMPfam_AlaDh_PNT_C "superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AlaDh_PNT_N,HMMPfam_AlaDh_PNT_C,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain" - no_errors FEZF1 389549 broad.mit.edu 36 7 121730470 121730470 + Silent SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 121730470 121730470 C T SNP FEZF1 NM_001024613 human genbank 54_36p -1 provisional silent c.921 p.T307 0.9 superfamily_SSF57667 "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CADPS2 93664 broad.mit.edu 36 7 121843447 121843447 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 121843447 121843447 C A SNP CADPS2 NM_017954 human genbank 54_36p -1 validated missense c.2484 p.M828I 1 HMMPfam_DUF1041 "HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041" - no_errors RNF133 168433 broad.mit.edu 36 7 122125424 122125424 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 122125424 122125424 C A SNP RNF133 NM_139175 human genbank 54_36p -1 reviewed missense c.785 p.R262L 0.93 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" "PatternScan_ZF_RING_1,superfamily_SSF52025,HMMPfam_PA,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors TAS2R16 50833 broad.mit.edu 36 7 122422053 122422053 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 122422053 122422053 C T SNP TAS2R16 NM_016945 human genbank 54_36p -1 reviewed missense c.872 p.C291Y 0 NULL HMMPfam_TAS2R - no_errors IQUB 154865 broad.mit.edu 36 7 122888709 122888709 + Nonsense_Mutation SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 122888709 122888709 G A SNP IQUB NM_178827 human genbank 54_36p -1 validated nonsense c.1945 p.Q649* 0.03 NULL "HMMPfam_DUF2021,superfamily_Ubiquitin-like" - no_errors IQUB 154865 broad.mit.edu 36 7 122939369 122939369 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 122939369 122939369 C A SNP IQUB NM_178827 human genbank 54_36p -1 validated missense c.262 p.V88F 0 NULL "HMMPfam_DUF2021,superfamily_Ubiquitin-like" - no_errors HYAL4 23553 broad.mit.edu 36 7 123295798 123295798 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 123295798 123295798 C G SNP HYAL4 NM_012269 human genbank 54_36p 1 reviewed missense c.235 p.L79V 0 "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2" - no_errors SPAM1 6677 broad.mit.edu 36 7 123380877 123380877 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 123380877 123380877 T G SNP SPAM1 NM_003117 human genbank 54_36p 1 reviewed missense c.17 p.F6C 0 NULL "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat" - no_errors SPAM1 6677 broad.mit.edu 36 7 123381728 123381728 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 123381728 123381728 A G SNP SPAM1 NM_003117 human genbank 54_36p 1 reviewed missense c.868 p.K290E 0 "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat" - no_errors GPR37 2861 broad.mit.edu 36 7 124191244 124191244 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 124191244 124191244 C G SNP GPR37 NM_005302 human genbank 54_36p -1 provisional missense c.1023 p.E341D 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR37 2861 broad.mit.edu 36 7 124191711 124191711 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 124191711 124191711 C G SNP GPR37 NM_005302 human genbank 54_36p -1 provisional missense c.556 p.A186P 0.01 NULL "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors POT1 25913 broad.mit.edu 36 7 124298223 124298223 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 124298223 124298223 A G SNP POT1 NM_015450 human genbank 54_36p -1 reviewed missense c.233 p.I78T 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_Telo_bind" "superfamily_Nucleic acid-binding proteins,HMMPfam_Telo_bind" - no_errors GRM8 2918 broad.mit.edu 36 7 126533856 126533856 + Silent SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 126533856 126533856 C T SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed silent c.657 p.S219 0.93 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GCC1 79571 broad.mit.edu 36 7 127009804 127009804 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 127009804 127009804 C A SNP GCC1 NM_024523 human genbank 54_36p -1 reviewed missense c.1828 p.A610S 0.6 NULL "HMMPfam_GRIP,HMMSmart_SM00755" - no_errors ARF5 381 broad.mit.edu 36 7 127017389 127017389 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 127017389 127017389 G T SNP ARF5 NM_001662 human genbank 54_36p 1 reviewed nonsense c.292 p.E98* 1 "HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" "HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,PatternScan_ARF" - no_errors RBM28 55131 broad.mit.edu 36 7 127758150 127758150 + Missense_Mutation SNP A A C novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 127758150 127758150 A C SNP RBM28 NM_018077 human genbank 54_36p -1 validated missense c.1087 p.Y363D 1 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" "HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1" - no_errors IMPDH1 3614 broad.mit.edu 36 7 127825757 127825757 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 127825757 127825757 C T SNP IMPDH1 NM_000883 human genbank 54_36p -1 reviewed missense c.1021 p.D341N 1 "superfamily_SSF51412,HMMPfam_IMPDH" "superfamily_SSF51412,HMMPfam_IMPDH,superfamily_SSF54631,HMMPfam_CBS,HMMSmart_CBS,PatternScan_IMP_DH_GMP_RED" - no_errors CCDC136 64753 broad.mit.edu 36 7 128233162 128233162 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 128233162 128233162 C T SNP CCDC136 NM_022742 human genbank 54_36p 1 validated missense c.1060 p.R354W 0.87 NULL "superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors CCDC136 64753 broad.mit.edu 36 7 128234679 128234679 + Silent SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 128234679 128234679 G A SNP CCDC136 NM_022742 human genbank 54_36p 1 validated silent c.1449 p.E483 0.7 superfamily_Prefoldin "superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors CCDC136 64753 broad.mit.edu 36 7 128240009 128240009 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 128240009 128240009 A T SNP CCDC136 NM_022742 human genbank 54_36p 1 validated missense c.2553 p.E851D 0 superfamily_Spectrin repeat "superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors FLNC 2318 broad.mit.edu 36 7 128272219 128272219 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 128272219 128272219 C T SNP FLNC NM_001458 human genbank 54_36p 1 reviewed missense c.3464 p.P1155L 1 "superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557" - no_errors TSPAN33 340348 broad.mit.edu 36 7 128593914 128593914 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 128593914 128593914 C G SNP TSPAN33 NM_178562 human genbank 54_36p 1 provisional missense c.519 p.C173W 0.99 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,superfamily_Tetraspanin" - no_errors AHCYL2 23382 broad.mit.edu 36 7 128827403 128827403 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 128827403 128827403 A G SNP AHCYL2 NM_015328 human genbank 54_36p 1 validated missense c.860 p.D287G 1 "superfamily_SSF52283,HMMPfam_AdoHcyase" "superfamily_SSF52283,HMMPfam_AdoHcyase,PatternScan_ADOHCYASE_1,superfamily_NAD(P)-bd,HMMPfam_AdoHcyase_NAD,PatternScan_ADOHCYASE_2" - no_errors TMEM209 84928 broad.mit.edu 36 7 129619850 129619850 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 129619850 129619850 C T SNP TMEM209 NM_032842 human genbank 54_36p -1 validated missense c.623 p.G208E 1 HMMPfam_CytochromB561_N HMMPfam_CytochromB561_N - no_errors C7orf45 136263 broad.mit.edu 36 7 129643285 129643285 + Silent SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 129643285 129643285 A G SNP C7orf45 NM_145268 human genbank 54_36p 1 validated silent c.474 p.E158 0.13 NULL NULL - no_errors CPA2 1358 broad.mit.edu 36 7 129716757 129716757 + Silent SNP C C G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 129716757 129716757 C G SNP CPA2 NM_001869 human genbank 54_36p 1 reviewed silent c.1188 p.P396 1 "superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14" "superfamily_Prot_inh_propept,HMMPfam_Propep_M14,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2" - no_errors CPA4 51200 broad.mit.edu 36 7 129737955 129737955 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 129737955 129737955 C A SNP CPA4 NM_016352 human genbank 54_36p 1 reviewed missense c.886 p.Q296K 0.01 "superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2" - no_errors CPA5 93979 broad.mit.edu 36 7 129794613 129794613 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 129794613 129794613 C T SNP CPA5 NM_080385 human genbank 54_36p 1 validated nonsense c.1003 p.R335* 1 "superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2" - no_errors CPA1 1357 broad.mit.edu 36 7 129810805 129810805 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 129810805 129810805 C T SNP CPA1 NM_001868 human genbank 54_36p 1 reviewed silent c.630 p.L210 0.04 "superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14" "superfamily_Prot_inh_propept,HMMPfam_Propep_M14,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2" - no_errors MKLN1 4289 broad.mit.edu 36 7 130806223 130806223 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 130806223 130806223 G C SNP MKLN1 NM_013255 human genbank 54_36p 1 validated missense c.2011 p.D671H 1 NULL "superfamily_Galactose-binding domain-like,HMMPfam_Muskelin_N,HMMSmart_SM00667,HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain" - no_errors PLXNA4 91584 broad.mit.edu 36 7 131476006 131476006 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 131476006 131476006 G A SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.5330 p.T1777I 1 "HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors PLXNA4 91584 broad.mit.edu 36 7 131476037 131476037 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 131476037 131476037 T C SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.5299 p.T1767A 1 "superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl" "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat" - no_errors PLXNA4 91584 broad.mit.edu 36 7 131843728 131843728 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 131843728 131843728 C A SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.265 p.D89Y 0.98 "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain" "HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat" - no_errors CHCHD3 54927 broad.mit.edu 36 7 132359853 132359853 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 132359853 132359853 G C SNP CHCHD3 NM_017812 human genbank 54_36p -1 provisional missense c.244 p.Q82E 0.95 HMMPfam_DUF737 "HMMPfam_DUF737,HMMPfam_CHCH" - no_errors LRGUK 136332 broad.mit.edu 36 7 133509892 133509892 + Silent SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 133509892 133509892 C T SNP LRGUK NM_144648 human genbank 54_36p 1 provisional silent c.984 p.I328 0.97 superfamily_SSF52058 "PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMSmart_GuKc,HMMPfam_Guanylate_kin" - no_errors AKR1B1 231 broad.mit.edu 36 7 133786091 133786091 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 133786091 133786091 G A SNP AKR1B1 NM_001628 human genbank 54_36p -1 reviewed missense c.338 p.P113L 1 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors AKR1B15 441282 broad.mit.edu 36 7 133910733 133910733 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 133910733 133910733 G A SNP AKR1B10L NM_001080538 human genbank 54_36p 1 provisional missense c.451 p.E151K 0.99 "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_2" "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_2" - no_errors WDR91 29062 broad.mit.edu 36 7 134531481 134531481 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 134531481 134531481 C G SNP WDR91 NM_014149 human genbank 54_36p -1 validated missense c.1199 p.G400A 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors NUP205 23165 broad.mit.edu 36 7 134920120 134920120 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 134920120 134920120 C G SNP NUP205 NM_015135 human genbank 54_36p 1 validated missense c.1043 p.A348G 1 NULL NULL - no_errors NUP205 23165 broad.mit.edu 36 7 134938258 134938258 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 134938258 134938258 C T SNP NUP205 NM_015135 human genbank 54_36p 1 validated missense c.2678 p.A893V 1 NULL NULL - no_errors NUP205 23165 broad.mit.edu 36 7 134952008 134952008 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 134952008 134952008 A T SNP NUP205 NM_015135 human genbank 54_36p 1 validated missense c.3526 p.T1176S 0.84 NULL NULL - no_errors FAM180A 389558 broad.mit.edu 36 7 135069406 135069406 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 135069406 135069406 C T SNP FAM180A NM_205855 human genbank 54_36p -1 predicted missense c.379 p.V127M 0.98 NULL NULL - no_errors FAM180A 389558 broad.mit.edu 36 7 135069408 135069408 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 135069408 135069408 G C SNP FAM180A NM_205855 human genbank 54_36p -1 predicted missense c.377 p.T126R 1 NULL NULL - no_errors DGKI 9162 broad.mit.edu 36 7 136922464 136922464 + Silent SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 136922464 136922464 C A SNP DGKI NM_004717 human genbank 54_36p -1 reviewed silent c.1344 p.L448 1 "HMMPfam_DAGK_cat,HMMSmart_DAGKc" "PatternScan_ZF_DAG_PE_1,HMMSmart_C1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_DAGK_acc,HMMSmart_DAGKa,superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" - no_errors DGKI 9162 broad.mit.edu 36 7 136955144 136955144 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 136955144 136955144 G A SNP DGKI NM_004717 human genbank 54_36p -1 reviewed missense c.959 p.P320L 1 NULL "HMMPfam_DAGK_acc,HMMSmart_DAGKa,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1" - no_errors CREB3L2 64764 broad.mit.edu 36 7 137220324 137220324 + Silent SNP C C T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 137220324 137220324 C T SNP CREB3L2 NM_194071 human genbank 54_36p -1 validated silent c.1227 p.L409 1 NULL "superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors AKR1D1 6718 broad.mit.edu 36 7 137411867 137411867 + Silent SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 137411867 137411867 C T SNP AKR1D1 NM_005989 human genbank 54_36p 1 validated silent c.63 p.I21 0.84 "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors SVOPL 136306 broad.mit.edu 36 7 137961258 137961258 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 137961258 137961258 G C SNP SVOPL NM_174959 human genbank 54_36p -1 validated missense c.803 p.A268G 1 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" - no_errors KIAA1549 57670 broad.mit.edu 36 7 138253089 138253089 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 7 138253089 138253089 C T SNP KIAA1549 NM_020910 human genbank 54_36p -1 validated missense c.1673 p.R558H 0 NULL PatternScan_HTH_LUXR_1 - no_errors TTC26 79989 broad.mit.edu 36 7 138482481 138482481 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 138482481 138482481 C T SNP TTC26 NM_024926 human genbank 54_36p 1 validated silent c.450 p.V150 1 superfamily_SSF48452 superfamily_SSF48452 - no_errors PARP12 64761 broad.mit.edu 36 7 139372502 139372502 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 139372502 139372502 G A SNP PARP12 NM_022750 human genbank 54_36p -1 provisional missense c.1744 p.R582W 1 "superfamily_ADP-ribosylation,HMMPfam_PARP" "HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors PARP12 64761 broad.mit.edu 36 7 139373616 139373616 + Silent SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 139373616 139373616 G A SNP PARP12 NM_022750 human genbank 54_36p -1 provisional silent c.1557 p.R519 0.71 "HMMPfam_PARP,superfamily_ADP-ribosylation" "HMMPfam_zf-CCCH,HMMSmart_SM00356,HMMPfam_PARP,superfamily_ADP-ribosylation,superfamily_CCCH zinc finger" - no_errors PARP12 64761 broad.mit.edu 36 7 139393278 139393278 + Splice_Site SNP T T A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 139393278 139393278 T A SNP PARP12 NM_022750 human genbank 54_36p -1 provisional splice_site c.863-2 e5-2 1 - - - no_errors SLC37A3 84255 broad.mit.edu 36 7 139694985 139694987 + In_Frame_Del DEL AGA - AGA novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W AGA AGA - - AGA AGA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 139694985 139694987 AGA - DEL SLC37A3 NM_207113 human genbank 54_36p -1 validated in_frame_del c.934_932 p.F311in_frame_del 1.000:1.000:1.000 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "(deletion:cds_exon[139694895,139695036])" no_errors DENND2A 27147 broad.mit.edu 36 7 139948560 139948560 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 139948560 139948560 C G SNP DENND2A NM_015689 human genbank 54_36p -1 validated missense c.107 p.R36T 0 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800" - no_errors NDUFB2 4708 broad.mit.edu 36 7 140051180 140051180 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 140051180 140051180 A G SNP NDUFB2 NM_004546 human genbank 54_36p 1 reviewed missense c.295 p.I99V 0.98 NULL NULL - no_errors BRAF 673 broad.mit.edu 36 7 140099662 140099662 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 140099662 140099662 T C SNP BRAF NM_004333 human genbank 54_36p -1 reviewed missense c.1742 p.N581S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" ############################################################################################################################################################################################################################################################### - no_errors AGK 55750 broad.mit.edu 36 7 140961779 140961779 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 140961779 140961779 G A SNP AGK NM_018238 human genbank 54_36p 1 validated missense c.463 p.G155R 1 "HMMPfam_DAGK_cat,HMMSmart_SM00046" "HMMPfam_DAGK_cat,HMMSmart_SM00046" - no_errors KIAA1147 57189 broad.mit.edu 36 7 141010468 141010468 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 141010468 141010468 T C SNP KIAA1147 NM_001080392 human genbank 54_36p -1 predicted missense c.1145 p.N382S 0.98 HMMPfam_DUF2347 HMMPfam_DUF2347 - no_errors MGAM 8972 broad.mit.edu 36 7 141368668 141368668 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 141368668 141368668 A G SNP MGAM NM_004668 human genbank 54_36p 1 reviewed missense c.842 p.K281R 1 NULL "HMMPfam_Trefoil,HMMPfam_Glyco_hydro_31" - no_errors MGAM 8972 broad.mit.edu 36 7 141378037 141378037 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 7 141378037 141378037 A T SNP MGAM NM_004668 human genbank 54_36p 1 reviewed missense c.1559 p.Q520L 0.07 HMMPfam_Glyco_hydro_31 "HMMPfam_Glyco_hydro_31,HMMPfam_Trefoil" - no_errors MGAM 8972 broad.mit.edu 36 7 141410781 141410781 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 141410781 141410781 C A SNP MGAM NM_004668 human genbank 54_36p 1 reviewed missense c.4474 p.P1492T 1 HMMPfam_Glyco_hydro_31 "HMMPfam_Glyco_hydro_31,HMMPfam_Trefoil" - no_errors EPHB6 2051 broad.mit.edu 36 7 142271518 142271518 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 142271518 142271518 G T SNP EPHB6 NM_004445 human genbank 54_36p 1 reviewed missense c.63 p.L21F 0.98 "superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615" ############################################################################################################################################################################################################################################################### - no_errors TRPV6 55503 broad.mit.edu 36 7 142279840 142279840 + Silent SNP G G A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 142279840 142279840 G A SNP TRPV6 NM_018646 human genbank 54_36p -1 validated silent c.1920 p.N640 0.03 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors TRPV5 56302 broad.mit.edu 36 7 142332804 142332804 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 142332804 142332804 C A SNP TRPV5 NM_019841 human genbank 54_36p -1 reviewed missense c.1064 p.R355L 0.1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors TRPV5 56302 broad.mit.edu 36 7 142335310 142335310 + Silent SNP G G T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 142335310 142335310 G T SNP TRPV5 NM_019841 human genbank 54_36p -1 reviewed silent c.904 p.R302 0.89 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans" - no_errors TRPV5 56302 broad.mit.edu 36 7 142336330 142336330 + Silent SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 142336330 142336330 G A SNP TRPV5 NM_019841 human genbank 54_36p -1 reviewed silent c.495 p.H165 0.97 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans" - no_errors TAS2R40 259286 broad.mit.edu 36 7 142629836 142629836 + Silent SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 142629836 142629836 G A SNP TAS2R40 NM_176882 human genbank 54_36p 1 provisional silent c.543 p.T181 0 "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" - no_errors TMEM139 135932 broad.mit.edu 36 7 142693871 142693871 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 142693871 142693871 C G SNP TMEM139 NM_153345 human genbank 54_36p 1 provisional missense c.478 p.P160A 0 NULL NULL - no_errors CLCN1 1180 broad.mit.edu 36 7 142723566 142723566 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 142723566 142723566 C T SNP CLCN1 NM_000083 human genbank 54_36p 1 reviewed missense c.139 p.R47W 0.05 NULL "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS" - no_errors CLCN1 1180 broad.mit.edu 36 7 142729031 142729031 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 142729031 142729031 G T SNP CLCN1 NM_000083 human genbank 54_36p 1 reviewed missense c.664 p.G222C 1 "HMMPfam_Voltage_CLC,superfamily_Clc chloride channel" "HMMPfam_CBS,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain" - no_errors FAM131B 9715 broad.mit.edu 36 7 142766149 142766149 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 142766149 142766149 C T SNP FAM131B NM_001031690 human genbank 54_36p -1 validated missense c.275 p.G92E 1 NULL NULL - no_errors EPHA1 2041 broad.mit.edu 36 7 142804789 142804789 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 142804789 142804789 C T SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed missense c.1699 p.V567I 0 NULL ############################################################################################################################################################################################################################################################### - no_errors EPHA1 2041 broad.mit.edu 36 7 142808686 142808686 + Silent SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 142808686 142808686 G A SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed silent c.285 p.V95 0.46 "HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like" ############################################################################################################################################################################################################################################################### - no_errors OR2F2 135948 broad.mit.edu 36 7 143263269 143263269 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 143263269 143263269 A G SNP OR2F2 NM_001004685 human genbank 54_36p 1 provisional missense c.11 p.D4G 0.04 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2F2 135948 broad.mit.edu 36 7 143263352 143263352 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 143263352 143263352 T A SNP OR2F2 NM_001004685 human genbank 54_36p 1 provisional missense c.94 p.L32M 0.1 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR6B1 135946 broad.mit.edu 36 7 143332853 143332853 + Silent SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 143332853 143332853 C T SNP OR6B1 NM_001005281 human genbank 54_36p 1 provisional silent c.831 p.A277 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2A5 393046 broad.mit.edu 36 7 143378970 143378970 + Silent SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 143378970 143378970 C T SNP OR2A5 NM_012365 human genbank 54_36p 1 provisional silent c.543 p.I181 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2A5 393046 broad.mit.edu 36 7 143379018 143379018 + Silent SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 143379018 143379018 G A SNP OR2A5 NM_012365 human genbank 54_36p 1 provisional silent c.591 p.V197 0 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR2A12 346525 broad.mit.edu 36 7 143423164 143423164 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 143423164 143423164 G T SNP OR2A12 NM_001004135 human genbank 54_36p 1 provisional missense c.31 p.V11F 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2A7 401427 broad.mit.edu 36 7 143586931 143586931 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 143586931 143586931 A G SNP OR2A7 NM_001005328 human genbank 54_36p -1 provisional missense c.724 p.S242P 0.3 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors CNTNAP2 26047 broad.mit.edu 36 7 146460352 146460352 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 146460352 146460352 G A SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.1166 p.R389Q 0.93 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors CNTNAP2 26047 broad.mit.edu 36 7 146967232 146967232 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 146967232 146967232 G A SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.1999 p.A667T 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors CNTNAP2 26047 broad.mit.edu 36 7 147231700 147231700 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 147231700 147231700 A T SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.2209 p.T737S 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors CNTNAP2 26047 broad.mit.edu 36 7 147500486 147500486 + Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 147500486 147500486 G T SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.2993 p.G998V 1 "HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP2 26047 broad.mit.edu 36 7 147545369 147545369 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 147545369 147545369 G A SNP CNTNAP2 NM_014141 human genbank 54_36p 1 reviewed missense c.3067 p.A1023T 0 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors PDIA4 9601 broad.mit.edu 36 7 148347173 148347173 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 148347173 148347173 T C SNP PDIA4 NM_004911 human genbank 54_36p -1 validated missense c.319 p.I107V 0 "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors ZNF425 155054 broad.mit.edu 36 7 148432494 148432494 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 148432494 148432494 T G SNP ZNF425 NM_001001661 human genbank 54_36p -1 provisional missense c.1402 p.K468Q 0.05 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF212 7988 broad.mit.edu 36 7 148582403 148582403 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 148582403 148582403 G A SNP ZNF212 NM_012256 human genbank 54_36p 1 reviewed silent c.1452 p.L484 0.04 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF777 27153 broad.mit.edu 36 7 148760491 148760491 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 148760491 148760491 C A SNP ZNF777 NM_015694 human genbank 54_36p -1 validated missense c.1805 p.C602F 0 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF746 155061 broad.mit.edu 36 7 148803306 148803306 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 148803306 148803306 C G SNP ZNF746 NM_152557 human genbank 54_36p -1 provisional missense c.1037 p.R346P 0.31 NULL "HMMPfam_KRAB,superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF746 155061 broad.mit.edu 36 7 148805656 148805656 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 148805656 148805656 C A SNP ZNF746 NM_152557 human genbank 54_36p -1 provisional missense c.644 p.G215V 0.98 NULL "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF746 155061 broad.mit.edu 36 7 148822461 148822461 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 148822461 148822461 G A SNP ZNF746 NM_152557 human genbank 54_36p -1 provisional missense c.91 p.R31C 0.71 NULL "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors KRBA1 84626 broad.mit.edu 36 7 149049527 149049527 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 149049527 149049527 G C SNP KRBA1 ENST00000255992 human ensembl 54_36p 1 known missense c.434 p.G145A 0 NULL NULL - no_errors SSPO 23145 broad.mit.edu 36 7 149106036 149106036 + Silent SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 149106036 149106036 G A SNP SSPO NM_198455 human genbank 54_36p 1 provisional silent c.804 p.L268 0.94 "HMMSmart_SM00216,HMMPfam_VWD" ############################################################################################################################################################################################################################################################### - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SSPO 23145 broad.mit.edu 36 7 149134850 149134853 + Frame_Shift_Del DEL GATA - GATA novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W GATA GATA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 7 149134850 149134853 GATA - DEL SSPO NM_198455 human genbank 54_36p 1 provisional frame_shift_del c.8748_8751 p.D2918fs 0.551:0.642:0.734:0.827 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[149134756,149135012])" pseudogene:no_stop_codon:bad_bp_length_for_coding_region SSPO 23145 broad.mit.edu 36 7 149159224 149159225 + Missense_Mutation DNP GG GG TA novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 149159224 149159225 GG TA DNP SSPO NM_198455 human genbank 54_36p 1 provisional missense c.15225_15226 p.D5076N 0.998:1.000 NULL ############################################################################################################################################################################################################################################################### - pseudogene:no_stop_codon:bad_bp_length_for_coding_region C7orf29 113763 broad.mit.edu 36 7 149659030 149659030 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 149659030 149659030 G C SNP C7orf29 NM_138434 human genbank 54_36p 1 validated missense c.604 p.E202Q 0.57 NULL NULL - no_errors REPIN1 29803 broad.mit.edu 36 7 149699714 149699714 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 149699714 149699714 G A SNP REPIN1 NM_001099695 human genbank 54_36p 1 validated missense c.622 p.E208K 0.05 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GIMAP4 55303 broad.mit.edu 36 7 149900208 149900208 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 149900208 149900208 C T SNP GIMAP4 NM_018326 human genbank 54_36p 1 reviewed silent c.117 p.T39 0.76 "superfamily_SSF52540,HMMPfam_AIG1" "superfamily_SSF52540,HMMPfam_AIG1" - no_errors GIMAP1 170575 broad.mit.edu 36 7 150048090 150048090 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 150048090 150048090 C A SNP GIMAP1 NM_130759 human genbank 54_36p 1 reviewed missense c.65 p.S22Y 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1" - no_errors TMEM176B 28959 broad.mit.edu 36 7 150124586 150124586 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 150124586 150124586 G A SNP TMEM176B NM_001101311 human genbank 54_36p -1 validated missense c.5 p.T2M 0 NULL HMMPfam_LR8 - no_errors TMEM176A 55365 broad.mit.edu 36 7 150130293 150130293 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 150130293 150130293 C T SNP TMEM176A NM_018487 human genbank 54_36p 1 validated missense c.232 p.R78C 0 HMMPfam_LR8 HMMPfam_LR8 - no_errors NOS3 4846 broad.mit.edu 36 7 150329335 150329335 + Silent SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150329335 150329335 G A SNP NOS3 NM_000603 human genbank 54_36p 1 validated silent c.1317 p.G439 1 "superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_NO_synthase" ############################################################################################################################################################################################################################################################### - no_errors NOS3 4846 broad.mit.edu 36 7 150338933 150338933 + Silent SNP C C G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150338933 150338933 C G SNP NOS3 NM_000603 human genbank 54_36p 1 validated silent c.2910 p.P970 0.99 "HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like" ############################################################################################################################################################################################################################################################### - no_errors ATG9B 285973 broad.mit.edu 36 7 150345191 150345191 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150345191 150345191 C A SNP ATG9B NM_173681 human genbank 54_36p -1 validated missense c.2154 p.W718C 1 NULL HMMPfam_APG9 - no_errors ATG9B 285973 broad.mit.edu 36 7 150349221 150349221 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 150349221 150349221 A T SNP ATG9B NM_173681 human genbank 54_36p -1 validated missense c.950 p.L317Q 1 NULL HMMPfam_APG9 - no_errors ABCB8 11194 broad.mit.edu 36 7 150361864 150361864 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150361864 150361864 G A SNP ABCB8 NM_007188 human genbank 54_36p 1 reviewed missense c.335 p.G112E 0.02 superfamily_ABC_TM_1 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB8 11194 broad.mit.edu 36 7 150372194 150372194 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150372194 150372194 C A SNP ABCB8 NM_007188 human genbank 54_36p 1 reviewed missense c.1969 p.R657S 0.01 "HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors ACCN3 9311 broad.mit.edu 36 7 150378590 150378590 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 150378590 150378590 C T SNP ACCN3 NM_020321 human genbank 54_36p 1 reviewed missense c.775 p.P259S 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors ABCF2 10061 broad.mit.edu 36 7 150543644 150543644 + Nonsense_Mutation SNP G G C novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150543644 150543644 G C SNP ABCF2 NM_005692 human genbank 54_36p -1 reviewed nonsense c.1509 p.Y503* 0.99 "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran" "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors CHPF2 54480 broad.mit.edu 36 7 150562189 150562189 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150562189 150562189 G C SNP CSGLCA-T NM_019015 human genbank 54_36p 1 provisional missense c.159 p.Q53H 0.84 NULL HMMPfam_CHGN - no_errors CHPF2 54480 broad.mit.edu 36 7 150564433 150564433 + Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 150564433 150564433 C A SNP CSGLCA-T NM_019015 human genbank 54_36p 1 provisional missense c.835 p.Q279K 1 HMMPfam_CHGN HMMPfam_CHGN - no_errors CHPF2 54480 broad.mit.edu 36 7 150565627 150565627 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150565627 150565627 C T SNP CSGLCA-T NM_019015 human genbank 54_36p 1 provisional missense c.1246 p.R416W 0.96 HMMPfam_CHGN HMMPfam_CHGN - no_errors CHPF2 54480 broad.mit.edu 36 7 150565781 150565781 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 150565781 150565781 G C SNP CSGLCA-T NM_019015 human genbank 54_36p 1 provisional missense c.1400 p.S467T 1 HMMPfam_CHGN HMMPfam_CHGN - no_errors MLL3 58508 broad.mit.edu 36 7 151509577 151509577 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 7 151509577 151509577 G C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.6301 p.P2101A 0.93 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL3 58508 broad.mit.edu 36 7 151510449 151510449 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 151510449 151510449 A C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.5429 p.L1810W 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors ACTR3B 57180 broad.mit.edu 36 7 152182520 152182520 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 152182520 152182520 G T SNP ACTR3B NM_020445 human genbank 54_36p 1 validated missense c.1206 p.E402D 0.98 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE" - no_errors PAXIP1 22976 broad.mit.edu 36 7 154391719 154391719 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 154391719 154391719 A C SNP PAXIP1 NM_007349 human genbank 54_36p -1 reviewed missense c.1125 p.N375K 0.88 NULL "superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292" - no_errors CNPY1 285888 broad.mit.edu 36 7 154992530 154992530 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 154992530 154992530 G A SNP CNPY1 NM_001103176 human genbank 54_36p -1 validated missense c.187 p.L63F 1 NULL NULL - no_errors DNAJB6 10049 broad.mit.edu 36 7 156871083 156871083 + Silent SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 156871083 156871083 G A SNP DNAJB6 NM_005494 human genbank 54_36p 1 reviewed silent c.708 p.L236 0.88 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1" - no_errors PTPRN2 5799 broad.mit.edu 36 7 157566802 157566802 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 157566802 157566802 C T SNP PTPRN2 NM_002847 human genbank 54_36p -1 reviewed missense c.1672 p.V558M 0.81 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors NCAPG2 54892 broad.mit.edu 36 7 158168810 158168810 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 158168810 158168810 G A SNP NCAPG2 NM_017760 human genbank 54_36p -1 validated silent c.867 p.F289 1 NULL superfamily_ARM repeat - no_errors WDR60 55112 broad.mit.edu 36 7 158365361 158365361 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 7 158365361 158365361 T G SNP WDR60 NM_018051 human genbank 54_36p 1 validated missense c.799 p.F267V 0 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors ARHGEF10 9639 broad.mit.edu 36 8 1795619 1795619 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 1795619 1795619 G A SNP ARHGEF10 NM_014629 human genbank 54_36p 1 reviewed missense c.343 p.E115K 0.04 NULL "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS" - no_errors MYOM2 9172 broad.mit.edu 36 8 1993181 1993181 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 1993181 1993181 T G SNP MYOM2 NM_003970 human genbank 54_36p 1 validated missense c.436 p.F146V 0 superfamily_SSF48726 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2" - no_errors MYOM2 9172 broad.mit.edu 36 8 2034099 2034099 + Silent SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 2034099 2034099 C T SNP MYOM2 NM_003970 human genbank 54_36p 1 validated silent c.2319 p.D773 0.23 "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors MYOM2 9172 broad.mit.edu 36 8 2051254 2051254 + Silent SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 2051254 2051254 T A SNP MYOM2 NM_003970 human genbank 54_36p 1 validated silent c.3276 p.I1092 1 NULL "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors MYOM2 9172 broad.mit.edu 36 8 2076203 2076203 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 2076203 2076203 C A SNP MYOM2 NM_003970 human genbank 54_36p 1 validated missense c.3951 p.D1317E 1 superfamily_SSF48726 "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors CSMD1 64478 broad.mit.edu 36 8 2807447 2807447 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 2807447 2807447 T A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated nonsense c.9580 p.K3194* 0.02 NULL "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 64478 broad.mit.edu 36 8 3064329 3064329 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 3064329 3064329 T C SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.4531 p.R1511G 1 NULL "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRAGMIN 157285 broad.mit.edu 36 8 8234453 8234453 + Silent SNP G G A rs56187292 Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 8234453 8234453 G A SNP PRAGMIN NM_001080826 human genbank 54_36p -1 validated silent c.2265 p.T755 1 NULL "HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_TYR" - no_errors PRAGMIN 157285 broad.mit.edu 36 8 8272214 8272214 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 8272214 8272214 G A SNP PRAGMIN NM_001080826 human genbank 54_36p -1 validated missense c.1115 p.P372L 0 NULL "HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like)" - no_errors MFHAS1 9258 broad.mit.edu 36 8 8787473 8787473 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 8787473 8787473 C A SNP MFHAS1 NM_004225 human genbank 54_36p -1 reviewed missense c.506 p.R169L 1 "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1" "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Polo-box domain" - no_errors TNKS 8658 broad.mit.edu 36 8 9647523 9647523 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 9647523 9647523 C T SNP TNKS NM_003747 human genbank 54_36p 1 validated missense c.3130 p.R1044W 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors RP1L1 94137 broad.mit.edu 36 8 10503593 10503593 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 10503593 10503593 C T SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.5425 p.G1809R 0 HMMPfam_S-antigen "superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen" - no_errors RP1L1 94137 broad.mit.edu 36 8 10504154 10504154 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 10504154 10504154 G A SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.4864 p.R1622W 0.01 NULL "HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837" - no_errors RP1L1 94137 broad.mit.edu 36 8 10506943 10506943 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 10506943 10506943 C G SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.2075 p.R692P 0 NULL "HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837" - no_errors RP1L1 94137 broad.mit.edu 36 8 10518074 10518074 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 10518074 10518074 G T SNP RP1L1 NM_178857 human genbank 54_36p -1 validated nonsense c.48 p.C16* 0 NULL "HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837" - no_errors SOX7 83595 broad.mit.edu 36 8 10621374 10621374 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 10621374 10621374 C G SNP SOX7 NM_031439 human genbank 54_36p -1 reviewed missense c.451 p.G151R 0.02 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors XKR6 286046 broad.mit.edu 36 8 10793071 10793071 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 10793071 10793071 C T SNP XKR6 NM_173683 human genbank 54_36p -1 provisional missense c.1727 p.R576H 1 NULL HMMPfam_XK-related - no_errors XKR6 286046 broad.mit.edu 36 8 10819570 10819570 + Silent SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 10819570 10819570 G A SNP XKR6 NM_173683 human genbank 54_36p -1 provisional silent c.945 p.S315 1 HMMPfam_XK-related HMMPfam_XK-related - no_errors MTMR9 66036 broad.mit.edu 36 8 11211615 11211615 + Silent SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 11211615 11211615 C G SNP MTMR9 NM_015458 human genbank 54_36p 1 reviewed silent c.1137 p.R379 1 superfamily_SSF52799 "superfamily_SSF50729,superfamily_SSF52799,HMMPfam_Myotub-related" - no_errors USP17L2 377630 broad.mit.edu 36 8 12032685 12032685 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 12032685 12032685 C T SNP DUB3 NM_201402 human genbank 54_36p -1 validated missense c.994 p.D332N 0.87 "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2" "PatternScan_UCH_2_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2" - no_errors LONRF1 91694 broad.mit.edu 36 8 12624987 12624987 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 12624987 12624987 G T SNP LONRF1 NM_152271 human genbank 54_36p -1 provisional missense c.2311 p.Q771K 1 NULL "HMMSmart_SM00028,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_TPR-like,HMMPfam_LON,HMMSmart_SM00464" - no_errors DLC1 10395 broad.mit.edu 36 8 13004676 13004676 + Silent SNP C C T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 13004676 13004676 C T SNP DLC1 NM_182643 human genbank 54_36p -1 reviewed silent c.1560 p.R520 1 NULL "HMMPfam_SAM_2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors TUSC3 7991 broad.mit.edu 36 8 15632544 15632544 + Splice_Site SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 15632544 15632544 A G SNP TUSC3 NM_006765 human genbank 54_36p 1 reviewed splice_site c.799-2 e7-2 0.98 - - - no_errors PCM1 5108 broad.mit.edu 36 8 17857267 17857267 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 17857267 17857267 C G SNP PCM1 NM_006197 human genbank 54_36p 1 validated missense c.1297 p.Q433E 1 NULL PatternScan_MOLYBDOPTERIN_EUK - no_errors PCM1 5108 broad.mit.edu 36 8 17916392 17916392 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 17916392 17916392 T C SNP PCM1 ENST00000400012 human ensembl 54_36p 1 known missense c.527 p.L176P 0.95 NULL NULL - no_start_codon INTS10 55174 broad.mit.edu 36 8 19719442 19719442 + Silent SNP A A G novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 19719442 19719442 A G SNP INTS10 NM_018142 human genbank 54_36p 1 validated silent c.114 p.A38 1 NULL NULL - no_errors INTS10 55174 broad.mit.edu 36 8 19735055 19735055 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 19735055 19735055 G T SNP INTS10 NM_018142 human genbank 54_36p 1 validated missense c.1473 p.E491D 1 NULL NULL - no_errors LPL 4023 broad.mit.edu 36 8 19856136 19856136 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 8 19856136 19856136 G C SNP LPL NM_000237 human genbank 54_36p 1 reviewed missense c.767 p.G256A 0.96 "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase" "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors SLC18A1 6570 broad.mit.edu 36 8 20082740 20082740 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 20082740 20082740 G C SNP SLC18A1 NM_003053 human genbank 54_36p -1 validated missense c.16 p.L6V 0 NULL "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors LZTS1 11178 broad.mit.edu 36 8 20154665 20154666 + Missense_Mutation DNP TG TG AC novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 20154665 20154666 TG AC DNP LZTS1 NM_021020 human genbank 54_36p -1 validated missense c.1057_1056 p.M353L 1.000:0.993 NULL HMMPfam_Fez1 - no_errors LZTS1 11178 broad.mit.edu 36 8 20154709 20154709 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 20154709 20154709 A T SNP LZTS1 NM_021020 human genbank 54_36p -1 validated missense c.1013 p.L338H 1 NULL HMMPfam_Fez1 - no_errors DOK2 9046 broad.mit.edu 36 8 21822857 21822857 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 21822857 21822857 C A SNP DOK2 NM_003974 human genbank 54_36p -1 reviewed missense c.1150 p.V384F 0.01 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors XPO7 23039 broad.mit.edu 36 8 21917387 21917387 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 21917387 21917387 G C SNP XPO7 NM_001100161 human genbank 54_36p 1 validated missense c.3097 p.V1033L 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N" - no_errors FAM160B2 64760 broad.mit.edu 36 8 22014083 22014083 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 22014083 22014083 C A SNP FAM160B2 ENST00000289921 human ensembl 54_36p 1 known missense c.1372 p.L458M 1 HMMPfam_RAI16-like HMMPfam_RAI16-like - no_errors HR 55806 broad.mit.edu 36 8 22041017 22041017 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 22041017 22041017 C A SNP HR NM_005144 human genbank 54_36p -1 reviewed missense c.883 p.A295S 0.43 NULL "HMMSmart_SM00558,HMMPfam_JmjC" - no_errors REEP4 80346 broad.mit.edu 36 8 22052184 22052184 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 22052184 22052184 G C SNP REEP4 ENST00000334530 human ensembl 54_36p -1 known missense c.485 p.S162C 0 NULL HMMPfam_TB2_DP1_HVA22 - no_errors LGI3 203190 broad.mit.edu 36 8 22061981 22061981 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 22061981 22061981 G T SNP LGI3 NM_139278 human genbank 54_36p -1 validated missense c.1284 p.H428Q 1 HMMPfam_EPTP "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMPfam_EPTP" - no_errors BMP1 649 broad.mit.edu 36 8 22120416 22120416 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 22120416 22120416 A T SNP BMP1 NM_006129 human genbank 54_36p 1 reviewed missense c.2338 p.T780S 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" ############################################################################################################################################################################################################################################################### - no_errors C8orf58 541565 broad.mit.edu 36 8 22514410 22514410 + Silent SNP C C A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 22514410 22514410 C A SNP C8orf58 NM_001013842 human genbank 54_36p 1 validated silent c.111 p.P37 0 NULL NULL - no_errors BIN3 55909 broad.mit.edu 36 8 22537732 22537732 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 22537732 22537732 T C SNP BIN3 NM_018688 human genbank 54_36p -1 reviewed missense c.428 p.E143G 1 "HMMSmart_SM00721,HMMPfam_BAR" "HMMSmart_SM00721,HMMPfam_BAR" - no_errors PEBP4 157310 broad.mit.edu 36 8 22731160 22731160 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 22731160 22731160 C T SNP PEBP4 NM_144962 human genbank 54_36p -1 validated missense c.292 p.D98N 0.99 "superfamily_PEBP,HMMPfam_PBP,PatternScan_PBP" "superfamily_PEBP,HMMPfam_PBP,PatternScan_PBP" - no_errors RHOBTB2 23221 broad.mit.edu 36 8 22920504 22920504 + Silent SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 22920504 22920504 C T SNP RHOBTB2 NM_015178 human genbank 54_36p 1 provisional silent c.801 p.D267 0.99 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "superfamily_SSF52540,HMMSmart_RHO,HMMPfam_Ras,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" - no_errors RHOBTB2 23221 broad.mit.edu 36 8 22920742 22920742 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 22920742 22920742 G A SNP RHOBTB2 NM_015178 human genbank 54_36p 1 provisional missense c.1039 p.V347M 1 "HMMSmart_BTB,superfamily_BTB/POZ_fold" "HMMSmart_BTB,HMMSmart_RHO,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMPfam_Ras,superfamily_SSF52540" - no_errors TNFRSF10A 8797 broad.mit.edu 36 8 23116183 23116183 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 8 23116183 23116183 C T SNP TNFRSF10A NM_003844 human genbank 54_36p -1 reviewed missense c.440 p.R147Q 0 superfamily_TNF receptor-like "superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death" - no_errors TNFRSF10A 8797 broad.mit.edu 36 8 23125582 23125582 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 23125582 23125582 C A SNP TNFRSF10A NM_003844 human genbank 54_36p -1 reviewed missense c.395 p.C132F 0.37 superfamily_TNF receptor-like "HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_DEATH domain,superfamily_TNF receptor-like" - no_errors CHMP7 91782 broad.mit.edu 36 8 23174003 23174003 + Silent SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 23174003 23174003 C T SNP CHMP7 NM_152272 human genbank 54_36p 1 validated silent c.1308 p.V436 1 NULL HMMPfam_Snf7 - no_errors LOXL2 4017 broad.mit.edu 36 8 23281726 23281726 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 23281726 23281726 G T SNP LOXL2 NM_002318 human genbank 54_36p -1 reviewed missense c.84 p.D28E 0.99 NULL "superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE" - no_errors NEFM 4741 broad.mit.edu 36 8 24829055 24829055 + Silent SNP G G A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 24829055 24829055 G A SNP NEFM NM_005382 human genbank 54_36p 1 reviewed silent c.1113 p.R371 1 HMMPfam_Filament "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors NEFL 4747 broad.mit.edu 36 8 24869819 24869819 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 8 24869819 24869819 T C SNP NEFL ENST00000221169 human ensembl 54_36p -1 known missense c.128 p.Y43C 1 HMMPfam_Filament_head "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors DOCK5 80005 broad.mit.edu 36 8 25254382 25254382 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 8 25254382 25254382 G T SNP DOCK5 NM_024940 human genbank 54_36p 1 validated missense c.2400 p.M800I 0.83 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors DOCK5 80005 broad.mit.edu 36 8 25255872 25255872 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 25255872 25255872 A G SNP DOCK5 NM_024940 human genbank 54_36p 1 validated missense c.2549 p.N850S 1 NULL "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" - no_errors EBF2 64641 broad.mit.edu 36 8 25774565 25774565 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 25774565 25774565 G A SNP EBF2 NM_022659 human genbank 54_36p -1 validated missense c.1259 p.A420V 1 NULL "PatternScan_COE,HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG,HMMSmart_HLH" - no_errors PPP2R2A 5520 broad.mit.edu 36 8 26283770 26283770 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 8 26283770 26283770 C T SNP PPP2R2A NM_002717 human genbank 54_36p 1 reviewed missense c.1268 p.A423V 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2" - no_errors PTK2B 2185 broad.mit.edu 36 8 27359323 27359323 + Silent SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 27359323 27359323 G T SNP PTK2B NM_004103 human genbank 54_36p 1 reviewed silent c.2310 p.R770 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SCARA3 51435 broad.mit.edu 36 8 27584534 27584534 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 27584534 27584534 G C SNP SCARA3 NM_016240 human genbank 54_36p 1 reviewed missense c.1568 p.G523A 1 NULL HMMPfam_Collagen - no_errors FBXO16 157574 broad.mit.edu 36 8 28370266 28370266 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 28370266 28370266 T A SNP FBXO16 NM_172366 human genbank 54_36p -1 reviewed missense c.443 p.E148V 1 superfamily_SSF81383 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX" - no_errors HMBOX1 79618 broad.mit.edu 36 8 28932300 28932300 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 28932300 28932300 C G SNP HMBOX1 NM_024567 human genbank 54_36p 1 validated missense c.802 p.R268G 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors DUSP4 1846 broad.mit.edu 36 8 29258942 29258942 + Silent SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 29258942 29258942 G A SNP DUSP4 NM_057158 human genbank 54_36p -1 reviewed silent c.24 p.N8 0.02 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors DCTN6 10671 broad.mit.edu 36 8 30152190 30152190 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 30152190 30152190 G A SNP DCTN6 NM_006571 human genbank 54_36p 1 reviewed missense c.136 p.G46R 1 superfamily_Trimeric LpxA-like enzymes "superfamily_Trimeric LpxA-like enzymes,HMMPfam_Hexapep" - no_errors GSR 2936 broad.mit.edu 36 8 30670114 30670114 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 8 30670114 30670114 C G SNP GSR NM_000637 human genbank 54_36p -1 validated missense c.796 p.V266L 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,PatternScan_PYRIDINE_REDOX_1,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim" - no_errors TEX15 56154 broad.mit.edu 36 8 30820551 30820551 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 30820551 30820551 G C SNP TEX15 NM_031271 human genbank 54_36p -1 validated missense c.5525 p.S1842C 0.03 NULL NULL - no_errors TEX15 56154 broad.mit.edu 36 8 30825598 30825598 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 30825598 30825598 A G SNP TEX15 NM_031271 human genbank 54_36p -1 validated missense c.478 p.S160P 0 NULL NULL - no_errors PURG 29942 broad.mit.edu 36 8 31009734 31009734 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 31009734 31009734 T A SNP PURG NM_013357 human genbank 54_36p -1 reviewed missense c.107 p.H36L 0.98 NULL "HMMPfam_PurA,HMMSmart_SM00712" - no_errors WRN 7486 broad.mit.edu 36 8 31044217 31044217 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 31044217 31044217 C G SNP WRN NM_000553 human genbank 54_36p 1 reviewed missense c.631 p.L211V 0.98 "HMMSmart_SM00474,HMMPfam_3_5_exonuc,superfamily_Ribonuclease H-like" "HMMSmart_SM00474,HMMPfam_3_5_exonuc,superfamily_Ribonuclease H-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_RQC,HMMSmart_SM00341,HMMPfam_HRDC" - no_errors WRN 7486 broad.mit.edu 36 8 31062279 31062279 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 8 31062279 31062279 A G SNP WRN NM_000553 human genbank 54_36p 1 reviewed missense c.1406 p.E469G 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HRDC,HMMSmart_SM00341,HMMPfam_3_5_exonuc,HMMSmart_SM00474,HMMPfam_DEAD,superfamily_Ribonuclease H-like,HMMSmart_SM00487,HMMPfam_RQC,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NRG1 3084 broad.mit.edu 36 8 32740361 32740361 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 32740361 32740361 G T SNP NRG1 NM_013960 human genbank 54_36p 1 reviewed missense c.1352 p.R451I 1 HMMPfam_Neuregulin "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Neuregulin" - no_errors NRG1 3084 broad.mit.edu 36 8 32741319 32741319 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 32741319 32741319 C G SNP NRG1 NM_013956 human genbank 54_36p 1 reviewed missense c.1795 p.P599A 1 HMMPfam_Neuregulin "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,HMMPfam_Neuregulin" - no_errors UNC5D 137970 broad.mit.edu 36 8 35736450 35736450 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 35736450 35736450 G T SNP UNC5D NM_080872 human genbank 54_36p 1 validated missense c.2219 p.G740V 1 NULL "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,PatternScan_SERPIN,HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors KCNU1 157855 broad.mit.edu 36 8 36811520 36811520 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 36811520 36811520 C T SNP KCNU1 NM_001031836 human genbank 54_36p 1 validated missense c.1271 p.A424V 1 superfamily_NAD(P)-bd "superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a" - no_errors GPR124 25960 broad.mit.edu 36 8 37791599 37791599 + Silent SNP G G T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 37791599 37791599 G T SNP GPR124 NM_032777 human genbank 54_36p 1 validated silent c.273 p.G91 0.17 "superfamily_L domain-like,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMSmart_SM00409,superfamily_Hormone receptor domain (HRM Pfam 02793),HMMPfam_HRM,HMMPfam_GPS,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR124 25960 broad.mit.edu 36 8 37809740 37809740 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 37809740 37809740 C T SNP GPR124 NM_032777 human genbank 54_36p 1 validated silent c.1131 p.P377 1 "HMMPfam_HRM,superfamily_Hormone receptor domain (HRM Pfam 02793)" "HMMPfam_GPS,HMMSmart_SM00082,HMMPfam_LRR_1,HMMPfam_HRM,HMMSmart_SM00369,HMMSmart_SM00409,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_L domain-like" - no_errors GPR124 25960 broad.mit.edu 36 8 37809764 37809764 + Silent SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 37809764 37809764 G C SNP GPR124 NM_032777 human genbank 54_36p 1 validated silent c.1155 p.G385 1 "HMMPfam_HRM,superfamily_Hormone receptor domain (HRM Pfam 02793)" "HMMPfam_GPS,HMMSmart_SM00082,HMMPfam_LRR_1,HMMPfam_HRM,HMMSmart_SM00369,HMMSmart_SM00409,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_L domain-like" - no_errors GPR124 25960 broad.mit.edu 36 8 37816892 37816892 + Silent SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 37816892 37816892 C G SNP GPR124 NM_032777 human genbank 54_36p 1 validated silent c.2586 p.P862 0.88 NULL "HMMPfam_GPS,HMMSmart_SM00082,HMMPfam_LRR_1,HMMPfam_HRM,HMMSmart_SM00369,HMMSmart_SM00409,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_L domain-like" - no_errors RAB11FIP1 80223 broad.mit.edu 36 8 37848787 37848787 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 37848787 37848787 G A SNP RAB11FIP1 NM_001002814 human genbank 54_36p -1 validated silent c.2691 p.V897 0 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_RBD-FIP" - no_errors RAB11FIP1 80223 broad.mit.edu 36 8 37854031 37854031 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 37854031 37854031 A T SNP RAB11FIP1 NM_001002814 human genbank 54_36p -1 validated missense c.568 p.S190T 0.88 NULL "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_RBD-FIP" - no_errors RAB11FIP1 80223 broad.mit.edu 36 8 37876007 37876008 + Frame_Shift_Ins INS - C - novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 37876007 37876008 - C INS RAB11FIP1 NM_001002814 human genbank 54_36p -1 validated frame_shift_ins c.111_110 p.T38fs 1.000:1.000 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_RBD-FIP" - no_errors EIF4EBP1 1978 broad.mit.edu 36 8 38033901 38033901 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 38033901 38033901 C A SNP EIF4EBP1 NM_004095 human genbank 54_36p 1 reviewed missense c.291 p.H97Q 0.37 HMMPfam_eIF_4EBP HMMPfam_eIF_4EBP - no_errors BAG4 9530 broad.mit.edu 36 8 38187027 38187027 + Silent SNP T T A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 38187027 38187027 T A SNP BAG4 NM_004874 human genbank 54_36p 1 reviewed silent c.1233 p.L411 0.99 "superfamily_SSF63491,HMMPfam_BAG,HMMSmart_BAG" "superfamily_SSF63491,HMMPfam_BAG,HMMSmart_BAG" - no_errors WHSC1L1 54904 broad.mit.edu 36 8 38314066 38314066 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 38314066 38314066 C G SNP WHSC1L1 NM_023034 human genbank 54_36p -1 reviewed missense c.824 p.W275S 1 "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293" "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508" - no_errors ADAM18 8749 broad.mit.edu 36 8 39622094 39622094 + Silent SNP T T C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 39622094 39622094 T C SNP ADAM18 NM_014237 human genbank 54_36p 1 reviewed silent c.990 p.D330 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" ############################################################################################################################################################################################################################################################### - no_errors ADAM2 2515 broad.mit.edu 36 8 39813854 39813854 + Silent SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 39813854 39813854 C T SNP ADAM2 NM_001464 human genbank 54_36p -1 reviewed silent c.90 p.P30 0 HMMPfam_Pep_M12B_propep ############################################################################################################################################################################################################################################################### - no_errors IDO2 169355 broad.mit.edu 36 8 39925913 39925913 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 8 39925913 39925913 G T SNP IDO2 NM_194294 human genbank 54_36p 1 validated missense c.111 p.E37D 0.94 HMMPfam_IDO HMMPfam_IDO - no_errors IDO2 169355 broad.mit.edu 36 8 39959375 39959375 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 39959375 39959375 C A SNP IDO2 NM_194294 human genbank 54_36p 1 validated missense c.402 p.N134K 0.02 HMMPfam_IDO HMMPfam_IDO - no_errors ANK1 286 broad.mit.edu 36 8 41662847 41662847 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 41662847 41662847 C T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed missense c.4370 p.R1457H 1 "HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death" - no_errors ANK1 286 broad.mit.edu 36 8 41699886 41699886 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 41699886 41699886 G T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed missense c.823 p.P275T 1 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Death,HMMSmart_SM00005,HMMPfam_ZU5,HMMSmart_SM00218,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_DEATH domain" - no_errors ANK1 286 broad.mit.edu 36 8 41734807 41734807 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 41734807 41734807 A T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed missense c.33 p.D11E 1 "HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Death,HMMSmart_SM00005,HMMPfam_ZU5,HMMSmart_SM00218,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_DEATH domain" - no_errors MYST3 7994 broad.mit.edu 36 8 41924575 41924575 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 41924575 41924575 C T SNP MYST3 NM_001099412 human genbank 54_36p -1 validated missense c.1753 p.V585M 1 "superfamily_Acyl_CoA_acyltransferase,HMMPfam_MOZ_SAS" "HMMSmart_H15,superfamily_SSF46785,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,PatternScan_ZF_PHD_1,superfamily_FYVE_PHD_ZnF,superfamily_Acyl_CoA_acyltransferase,HMMPfam_MOZ_SAS" - no_errors MYST3 7994 broad.mit.edu 36 8 41951494 41951494 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 41951494 41951494 T C SNP MYST3 NM_001099412 human genbank 54_36p -1 validated missense c.1367 p.N456S 1 NULL "HMMSmart_RING,HMMSmart_PHD,HMMPfam_MOZ_SAS,HMMSmart_H15,superfamily_FYVE_PHD_ZnF,superfamily_Acyl_CoA_acyltransferase,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SSF46785" - no_errors IKBKB 3551 broad.mit.edu 36 8 42299098 42299098 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 42299098 42299098 G A SNP IKBKB NM_001556 human genbank 54_36p 1 validated missense c.1915 p.D639N 1 NULL "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_ubiquitin" - no_errors DKK4 27121 broad.mit.edu 36 8 42350856 42350856 + Silent SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 42350856 42350856 A G SNP DKK4 NM_014420 human genbank 54_36p -1 reviewed silent c.594 p.P198 0.79 NULL HMMPfam_Dickkopf_N - no_errors SLC20A2 6575 broad.mit.edu 36 8 42394594 42394594 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 42394594 42394594 C T SNP SLC20A2 NM_006749 human genbank 54_36p -1 provisional missense c.1843 p.D615N 1 HMMPfam_PHO4 HMMPfam_PHO4 - no_errors SLC20A2 6575 broad.mit.edu 36 8 42406894 42406894 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 42406894 42406894 C A SNP SLC20A2 NM_006749 human genbank 54_36p -1 provisional missense c.1554 p.W518C 1 HMMPfam_PHO4 HMMPfam_PHO4 - no_errors CHRNB3 1142 broad.mit.edu 36 8 42706201 42706201 + Silent SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 42706201 42706201 C T SNP CHRNB3 NM_000749 human genbank 54_36p 1 validated silent c.594 p.N198 0.76 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHRNB3 1142 broad.mit.edu 36 8 42706472 42706472 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 42706472 42706472 T A SNP CHRNB3 NM_000749 human genbank 54_36p 1 validated missense c.865 p.S289T 0.97 "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore" "HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL" - no_errors FNTA 2339 broad.mit.edu 36 8 43030803 43030803 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 43030803 43030803 G T SNP FNTA NM_002027 human genbank 54_36p 1 reviewed missense c.157 p.D53Y 1 NULL "superfamily_Protein prenylyltransferase,HMMPfam_PPTA" - no_errors PRKDC 5591 broad.mit.edu 36 8 48896744 48896744 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 48896744 48896744 T C SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known missense c.9082 p.K3028E 0.97 HMMPfam_FAT "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_NUC194,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors PRKDC 5591 broad.mit.edu 36 8 48930434 48930434 + Frame_Shift_Del DEL T - T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 48930434 48930434 T - DEL PRKDC ENST00000314191 human ensembl 54_36p -1 known frame_shift_del c.6660 p.K2220fs 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_NUC194,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" "(deletion:cds_exon[48930336,48930487])" no_errors PRKDC 5591 broad.mit.edu 36 8 48963679 48963684 + In_Frame_Del DEL TACAGG - TACAGG novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 TACAGG TACAGG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 48963679 48963684 TACAGG - DEL PRKDC ENST00000314191 human ensembl 54_36p -1 known in_frame_del c.4363_4358 p.ACK1453in_frame_delE 1.000:1.000:1.000:1.000:0.988:0.998 NULL "HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),HMMPfam_NUC194,superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" "(deletion:cds_exon[48963632,48963764])" no_errors PRKDC 5591 broad.mit.edu 36 8 48968400 48968400 + Silent SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 48968400 48968400 C T SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known silent c.3699 p.S1233 0.01 NULL "HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),HMMPfam_NUC194,superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors PRKDC 5591 broad.mit.edu 36 8 48973650 48973650 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 48973650 48973650 G C SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known missense c.3397 p.H1133D 1 superfamily_ARM repeat "HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),HMMPfam_NUC194,superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors PRKDC 5591 broad.mit.edu 36 8 49004231 49004231 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 49004231 49004231 C T SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known missense c.2113 p.A705T 1 superfamily_ARM repeat "HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),HMMPfam_NUC194,superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors MCM4 4173 broad.mit.edu 36 8 49045720 49045720 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 49045720 49045720 G A SNP MCM4 NM_005914 human genbank 54_36p 1 reviewed missense c.1531 p.D511N 1 "HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,HMMSmart_AAA" "superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,HMMSmart_AAA,PatternScan_MCM_1" - no_errors SNAI2 6591 broad.mit.edu 36 8 49995233 49995233 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 49995233 49995233 T C SNP SNAI2 NM_003068 human genbank 54_36p -1 reviewed missense c.400 p.N134D 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SNTG1 54212 broad.mit.edu 36 8 51525826 51525826 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 51525826 51525826 G A SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed missense c.347 p.C116Y 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors SNTG1 54212 broad.mit.edu 36 8 51611798 51611798 + Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 51611798 51611798 T A SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed nonsense c.557 p.L186* 0.36 HMMSmart_SM00233 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors SNTG1 54212 broad.mit.edu 36 8 51611850 51611850 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 8 51611850 51611850 G A SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed nonsense c.609 p.W203* 1 "HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors PXDNL 137902 broad.mit.edu 36 8 52414735 52414735 + Splice_Site SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 52414735 52414735 A G SNP PXDNL NM_144651 human genbank 54_36p -1 validated splice_site c.4146+2 e21+2 0.1 - - - no_errors PXDNL 137902 broad.mit.edu 36 8 52483360 52483360 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 52483360 52483360 A G SNP PXDNL NM_144651 human genbank 54_36p -1 validated missense c.3377 p.L1126P 1 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" ############################################################################################################################################################################################################################################################### - no_errors PXDNL 137902 broad.mit.edu 36 8 52484641 52484641 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 52484641 52484641 G C SNP PXDNL NM_144651 human genbank 54_36p -1 validated missense c.2096 p.S699C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PXDNL 137902 broad.mit.edu 36 8 52550145 52550145 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 52550145 52550145 A G SNP PXDNL NM_144651 human genbank 54_36p -1 validated missense c.634 p.Y212H 0.11 "HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors ST18 9705 broad.mit.edu 36 8 53234147 53234147 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 53234147 53234147 C T SNP ST18 NM_014682 human genbank 54_36p -1 validated missense c.1670 p.R557H 0.77 HMMPfam_MYT1 "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1" - no_errors ST18 9705 broad.mit.edu 36 8 53240338 53240338 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 8 53240338 53240338 A G SNP ST18 NM_014682 human genbank 54_36p -1 validated missense c.1205 p.I402T 1 superfamily_SSF103637 "HMMPfam_zf-C2HC,HMMPfam_MYT1,superfamily_SSF103637" - no_errors RB1CC1 9821 broad.mit.edu 36 8 53717570 53717570 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 53717570 53717570 C A SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated nonsense c.4231 p.G1411* 1 NULL "superfamily_SSF54236,HMMPfam_ATG11" - no_errors RB1CC1 9821 broad.mit.edu 36 8 53717636 53717638 + In_Frame_Del DEL CTT - CTT novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W CTT CTT - - CTT CTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 53717636 53717638 CTT - DEL RB1CC1 NM_014781 human genbank 54_36p -1 validated in_frame_del c.4165_4163 p.E1388in_frame_del 1.000:1.000:1.000 NULL "superfamily_SSF54236,HMMPfam_ATG11" "(deletion:cds_exon[53717464,53717704])" no_errors RB1CC1 9821 broad.mit.edu 36 8 53717639 53717639 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 53717639 53717639 C A SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated nonsense c.4162 p.E1388* 1 NULL "HMMPfam_ATG11,superfamily_SSF54236" - no_errors RB1CC1 9821 broad.mit.edu 36 8 53731173 53731175 + In_Frame_Del DEL CAA - CAA novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W CAA CAA - - CAA CAA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 53731173 53731175 CAA - DEL RB1CC1 NM_014781 human genbank 54_36p -1 validated in_frame_del c.3769_3767 p.V1256in_frame_del 1.000:0.999:0.996 NULL "HMMPfam_ATG11,superfamily_SSF54236" "(deletion:cds_exon[53731121,53733021])" no_errors NPBWR1 2831 broad.mit.edu 36 8 54015983 54015983 + Silent SNP G G A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 54015983 54015983 G A SNP NPBWR1 NM_005285 human genbank 54_36p 1 validated silent c.963 p.L321 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NPBWR1 2831 broad.mit.edu 36 8 54015988 54015988 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 54015988 54015988 C T SNP NPBWR1 NM_005285 human genbank 54_36p 1 validated missense c.968 p.T323I 0.98 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors RGS20 8601 broad.mit.edu 36 8 55033562 55033562 + Silent SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 8 55033562 55033562 T C SNP RGS20 NM_170587 human genbank 54_36p 1 validated silent c.1158 p.I386 0 NULL "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors RP1 6101 broad.mit.edu 36 8 55699974 55699974 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 55699974 55699974 C G SNP RP1 ENST00000220676 human ensembl 54_36p 1 known missense c.979 p.Q327E 1 NULL "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX" - no_errors RP1 6101 broad.mit.edu 36 8 55702786 55702786 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 55702786 55702786 T A SNP RP1 ENST00000220676 human ensembl 54_36p 1 known missense c.3791 p.V1264E 0 NULL "HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837" - no_errors RP1 6101 broad.mit.edu 36 8 55704383 55704383 + Silent SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 55704383 55704383 G T SNP RP1 ENST00000220676 human ensembl 54_36p 1 known silent c.5388 p.T1796 0 NULL "HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837" - no_errors RP1 6101 broad.mit.edu 36 8 55705226 55705226 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 55705226 55705226 G T SNP RP1 ENST00000220676 human ensembl 54_36p 1 known missense c.6231 p.Q2077H 0.84 NULL "HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837" - no_errors XKR4 114786 broad.mit.edu 36 8 56177895 56177895 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 56177895 56177895 T A SNP XKR4 NM_052898 human genbank 54_36p 1 provisional missense c.293 p.L98Q 1 NULL HMMPfam_XK-related - no_errors TMEM68 137695 broad.mit.edu 36 8 56831423 56831423 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 56831423 56831423 T C SNP TMEM68 NM_152417 human genbank 54_36p -1 provisional missense c.427 p.K143E 1 "HMMPfam_Acyltransferase,HMMSmart_PlsC" "HMMPfam_Acyltransferase,HMMSmart_PlsC" - no_errors TGS1 96764 broad.mit.edu 36 8 56886027 56886027 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 56886027 56886027 C G SNP TGS1 NM_024831 human genbank 54_36p 1 validated missense c.2177 p.A726G 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_15" "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_15" - no_errors MOS 4342 broad.mit.edu 36 8 57188055 57188055 + Nonstop_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 57188055 57188055 T A SNP MOS NM_005372 human genbank 54_36p -1 validated nonstop c.1041 p.*347C 0.12 NULL "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors IMPAD1 54928 broad.mit.edu 36 8 58041306 58041306 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 58041306 58041306 G C SNP IMPAD1 NM_017813 human genbank 54_36p -1 validated missense c.806 p.A269G 1 "HMMPfam_Inositol_P,superfamily_SSF56655" "PatternScan_IMP_1,HMMPfam_Inositol_P,superfamily_SSF56655,PatternScan_IMP_2" - no_errors UBXN2B 137886 broad.mit.edu 36 8 59521102 59521102 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 59521102 59521102 G A SNP UBXN2B NM_001077619 human genbank 54_36p 1 validated missense c.754 p.D252N 1 "superfamily_SSF54236,HMMPfam_UBX,HMMSmart_UBX" "superfamily_SEP,HMMSmart_SEP,HMMPfam_SEP,superfamily_SSF54236,HMMPfam_UBX,HMMSmart_UBX" - no_errors CYP7A1 1581 broad.mit.edu 36 8 59566702 59566702 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 59566702 59566702 C G SNP CYP7A1 NM_000780 human genbank 54_36p -1 reviewed missense c.1401 p.L467F 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CHD7 55636 broad.mit.edu 36 8 61898988 61898988 + Silent SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 61898988 61898988 C T SNP CHD7 NM_017780 human genbank 54_36p 1 reviewed silent c.3237 p.A1079 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N" "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors CHD7 55636 broad.mit.edu 36 8 61940738 61940738 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 61940738 61940738 T C SNP CHD7 NM_017780 human genbank 54_36p 1 reviewed missense c.8686 p.S2896P 1 NULL "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ASPH 444 broad.mit.edu 36 8 62651905 62651905 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 62651905 62651905 C G SNP ASPH NM_004318 human genbank 54_36p -1 validated missense c.1129 p.A377P 0.91 superfamily_SSF48452 "HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452,HMMPfam_Asp_Arg_Hydrox,superfamily_SSF51197" - no_errors CYP7B1 9420 broad.mit.edu 36 8 65671997 65671997 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 65671997 65671997 G A SNP CYP7B1 NM_004820 human genbank 54_36p -1 reviewed missense c.1277 p.T426I 0.08 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450" - no_errors CYP7B1 9420 broad.mit.edu 36 8 65690224 65690224 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 65690224 65690224 G T SNP CYP7B1 NM_004820 human genbank 54_36p -1 reviewed missense c.970 p.R324S 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450" - no_errors MYBL1 4603 broad.mit.edu 36 8 67639598 67639598 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 67639598 67639598 T C SNP MYBL1 NM_001080416 human genbank 54_36p -1 validated missense c.2147 p.E716G 1 NULL "superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,HMMPfam_Wos2,HMMPfam_Cmyb_C" - no_errors VCPIP1 80124 broad.mit.edu 36 8 67740310 67740310 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 67740310 67740310 C G SNP VCPIP1 NM_025054 human genbank 54_36p -1 validated missense c.1438 p.V480L 1 NULL HMMPfam_OTU - no_errors C8orf45 157777 broad.mit.edu 36 8 67970964 67970964 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 67970964 67970964 G T SNP C8orf45 NM_173518 human genbank 54_36p 1 validated nonsense c.1270 p.E424* 1 NULL NULL - no_errors CSPP1 79848 broad.mit.edu 36 8 68233900 68233900 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 68233900 68233900 G C SNP CSPP1 NM_001077204 human genbank 54_36p 1 validated missense c.2602 p.D868H 0.83 NULL NULL - no_errors ARFGEF1 10565 broad.mit.edu 36 8 68301929 68301929 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 68301929 68301929 C T SNP ARFGEF1 NM_006421 human genbank 54_36p -1 reviewed missense c.3913 p.V1305I 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors CPA6 57094 broad.mit.edu 36 8 68584313 68584313 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 68584313 68584313 A C SNP CPA6 NM_020361 human genbank 54_36p -1 validated missense c.527 p.I176S 1 "superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_2" - no_errors SULF1 23213 broad.mit.edu 36 8 70661237 70661237 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 70661237 70661237 C G SNP SULF1 NM_015170 human genbank 54_36p 1 validated missense c.504 p.F168L 1 "HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core" "PatternScan_SULFATASE_2,HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core,PatternScan_SULFATASE_1" - no_errors SULF1 23213 broad.mit.edu 36 8 70702641 70702641 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 70702641 70702641 C A SNP SULF1 NM_015170 human genbank 54_36p 1 validated missense c.2028 p.S676R 1 superfamily_Alkaline_phosphatase_core "HMMPfam_Sulfatase,PatternScan_SULFATASE_2,PatternScan_SULFATASE_1,superfamily_Alkaline_phosphatase_core" - no_errors SLCO5A1 81796 broad.mit.edu 36 8 70747889 70747889 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 70747889 70747889 C G SNP SLCO5A1 NM_030958 human genbank 54_36p -1 reviewed missense c.2316 p.Q772H 1 superfamily_MFS_gen_substrate_transporter "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors PRDM14 63978 broad.mit.edu 36 8 71141225 71141225 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 71141225 71141225 C T SNP PRDM14 NM_024504 human genbank 54_36p -1 validated missense c.982 p.V328I 1 "HMMSmart_SET,superfamily_SSF82199" "HMMSmart_SET,superfamily_SSF82199,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TRAM1 23471 broad.mit.edu 36 8 71661745 71661745 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 71661745 71661745 C G SNP TRAM1 NM_014294 human genbank 54_36p -1 provisional missense c.685 p.V229L 1 "HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" "HMMPfam_TRAM1,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" - no_errors EYA1 2138 broad.mit.edu 36 8 72344570 72344570 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 72344570 72344570 G A SNP EYA1 NM_000503 human genbank 54_36p -1 reviewed missense c.1009 p.H337Y 1 HMMPfam_Hydrolase HMMPfam_Hydrolase - no_errors EYA1 2138 broad.mit.edu 36 8 72396627 72396627 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 8 72396627 72396627 G C SNP EYA1 NM_000503 human genbank 54_36p -1 reviewed missense c.314 p.T105S 1 NULL HMMPfam_Hydrolase - no_errors EYA1 2138 broad.mit.edu 36 8 72429579 72429579 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 72429579 72429579 C T SNP EYA1 NM_000503 human genbank 54_36p -1 reviewed missense c.116 p.G39D 1 NULL HMMPfam_Hydrolase - no_errors TRPA1 8989 broad.mit.edu 36 8 73111130 73111130 + Silent SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 73111130 73111130 A G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed silent c.2502 p.C834 1 HMMPfam_Ion_trans "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_EF_HAND_1,HMMPfam_Ion_trans" - no_errors TRPA1 8989 broad.mit.edu 36 8 73134192 73134192 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 73134192 73134192 T G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed missense c.980 p.Y327S 1 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,PatternScan_EF_HAND_1" - no_errors TRPA1 8989 broad.mit.edu 36 8 73136525 73136525 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 73136525 73136525 A G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed missense c.833 p.F278S 1 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,PatternScan_EF_HAND_1" - no_errors KCNB2 9312 broad.mit.edu 36 8 74011716 74011716 + Silent SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 74011716 74011716 G T SNP KCNB2 NM_004770 human genbank 54_36p 1 reviewed silent c.1572 p.L524 1 HMMPfam_Kv2channel "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Kv2channel" - no_errors TMEM70 54968 broad.mit.edu 36 8 75051189 75051189 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 75051189 75051189 C A SNP TMEM70 NM_017866 human genbank 54_36p 1 validated missense c.119 p.S40Y 0.03 NULL HMMPfam_DUF1301 - no_errors TMEM70 54968 broad.mit.edu 36 8 75056274 75056274 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 75056274 75056274 C T SNP TMEM70 NM_017866 human genbank 54_36p 1 validated missense c.647 p.T216I 1 HMMPfam_DUF1301 HMMPfam_DUF1301 - no_errors JPH1 56704 broad.mit.edu 36 8 75319448 75319448 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 75319448 75319448 G A SNP JPH1 NM_020647 human genbank 54_36p -1 reviewed missense c.1775 p.S592F 0.48 NULL "superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN" - no_errors HNF4G 3174 broad.mit.edu 36 8 76638801 76638801 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 76638801 76638801 G A SNP HNF4G NM_004133 human genbank 54_36p 1 validated missense c.1253 p.G418D 1 NULL "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors ZFHX4 79776 broad.mit.edu 36 8 77780713 77780713 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 77780713 77780713 G T SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated missense c.1835 p.G612V 1 NULL "HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZFHX4 79776 broad.mit.edu 36 8 77781037 77781037 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 77781037 77781037 C A SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated nonsense c.2159 p.S720* 1 "HMMSmart_SM00451,HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZFHX4 79776 broad.mit.edu 36 8 77924389 77924389 + Silent SNP G G T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 77924389 77924389 G T SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated silent c.3597 p.P1199 0.63 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZFHX4 79776 broad.mit.edu 36 8 77928837 77928837 + Silent SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 77928837 77928837 C T SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated silent c.6990 p.N2330 0 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZFHX4 79776 broad.mit.edu 36 8 77929051 77929051 + Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 77929051 77929051 C T SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated nonsense c.7204 p.Q2402* 0.96 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZFHX4 79776 broad.mit.edu 36 8 77929104 77929104 + Silent SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 8 77929104 77929104 G A SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated silent c.7257 p.S2419 0.97 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers" - no_errors PEX2 5828 broad.mit.edu 36 8 78058564 78058564 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 78058564 78058564 T A SNP PXMP3 NM_000318 human genbank 54_36p -1 reviewed nonsense c.406 p.K136* 0.02 HMMPfam_Pex2_Pex12 "HMMPfam_Pex2_Pex12,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors FAM164A 51101 broad.mit.edu 36 8 79773254 79773254 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 79773254 79773254 C T SNP FAM164A NM_016010 human genbank 54_36p 1 validated missense c.655 p.L219F 1 NULL NULL - no_errors STMN2 11075 broad.mit.edu 36 8 80716197 80716197 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 80716197 80716197 G A SNP STMN2 NM_007029 human genbank 54_36p 1 provisional missense c.145 p.A49T 1 "superfamily_Stathmin,HMMPfam_Stathmin" "superfamily_Stathmin,HMMPfam_Stathmin,PatternScan_STATHMIN_1,PatternScan_STATHMIN_2" - no_errors ZBTB10 65986 broad.mit.edu 36 8 81593361 81593361 + Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 81593361 81593361 G A SNP ZBTB10 NM_001105539 human genbank 54_36p 1 validated nonsense c.2129 p.W710* 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFAND1 79752 broad.mit.edu 36 8 82788800 82788800 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 82788800 82788800 G A SNP ZFAND1 NM_024699 human genbank 54_36p -1 provisional nonsense c.388 p.R130* 1 NULL "HMMSmart_SM00154,HMMPfam_zf-AN1" - no_errors CHMP4C 92421 broad.mit.edu 36 8 82830160 82830160 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 82830160 82830160 G A SNP CHMP4C NM_152284 human genbank 54_36p 1 validated missense c.369 p.M123I 1 HMMPfam_Snf7 HMMPfam_Snf7 - no_errors RALYL 138046 broad.mit.edu 36 8 85849431 85849431 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 85849431 85849431 T C SNP RALYL NM_001100391 human genbank 54_36p 1 validated missense c.358 p.S120P 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors CA1 759 broad.mit.edu 36 8 86433099 86433099 + Frame_Shift_Del DEL A - A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 86433099 86433099 A - DEL CA1 NM_001738 human genbank 54_36p -1 validated frame_shift_del c.357 p.H120fs 1 "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" "(deletion:cds_exon[86433006,86433101])" no_errors CA3 761 broad.mit.edu 36 8 86539302 86539302 + Silent SNP T T G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 86539302 86539302 T G SNP CA3 NM_005181 human genbank 54_36p 1 reviewed silent c.144 p.S48 0 "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase" "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors CPNE3 8895 broad.mit.edu 36 8 87629648 87629648 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 87629648 87629648 G A SNP CPNE3 NM_003909 human genbank 54_36p 1 reviewed missense c.883 p.G295R 1 "superfamily_SSF53300,HMMSmart_VWA" "HMMSmart_C2,HMMPfam_C2,superfamily_C2_CaLB,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" - no_errors CNBD1 168975 broad.mit.edu 36 8 87968945 87968945 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 87968945 87968945 G C SNP CNBD1 NM_173538 human genbank 54_36p 1 provisional missense c.148 p.G50R 0.78 NULL "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,HMMPfam_cNMP_binding" - no_errors CNBD1 168975 broad.mit.edu 36 8 88021014 88021014 + Missense_Mutation SNP A A G novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 88021014 88021014 A G SNP CNBD1 NM_173538 human genbank 54_36p 1 provisional missense c.347 p.Q116R 0 NULL "HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding" - no_errors CNBD1 168975 broad.mit.edu 36 8 88318266 88318266 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 88318266 88318266 T G SNP CNBD1 NM_173538 human genbank 54_36p 1 provisional missense c.581 p.V194G 0.23 superfamily_cNMP_binding "HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding" - no_errors CNBD1 168975 broad.mit.edu 36 8 88435114 88435114 + Silent SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 88435114 88435114 A G SNP CNBD1 NM_173538 human genbank 54_36p 1 provisional silent c.1287 p.E429 0.97 "HMMPfam_cNMP_binding,superfamily_cNMP_binding" "HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding" - no_errors DCAF4L2 138009 broad.mit.edu 36 8 88954868 88954868 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 88954868 88954868 C G SNP WDR21C NM_152418 human genbank 54_36p -1 validated missense c.448 p.A150P 0.85 superfamily_WD40_like "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" - no_errors DCAF4L2 138009 broad.mit.edu 36 8 88955315 88955320 + Frame_Shift_Del DEL TTTCGT - TTTCGT novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D TTTCGT TTTCGT - - TTTCGT TTTCGT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 88955315 88955320 TTTCGT - DEL WDR21C NM_152418 human genbank 54_36p -1 validated frame_shift_del c.1 p.M1fs 0.61 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "(deletion:cds_exon[88954128,88955315], utr_exon[88955316,88955412])" no_errors MMP16 4325 broad.mit.edu 36 8 89122930 89122930 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 89122930 89122930 T C SNP MMP16 NM_005941 human genbank 54_36p -1 reviewed missense c.1699 p.I567V 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PDP1 54704 broad.mit.edu 36 8 95005016 95005016 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 95005016 95005016 T G SNP PPM2C NM_018444 human genbank 54_36p 1 reviewed missense c.1553 p.I518S 1 "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332" "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,PatternScan_PP2C,HMMPfam_PP2C" - no_errors CDH17 1015 broad.mit.edu 36 8 95255614 95255614 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 95255614 95255614 G T SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed missense c.475 p.P159T 0.77 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DPY19L4 286148 broad.mit.edu 36 8 95816070 95816070 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 95816070 95816070 G A SNP DPY19L4 NM_181787 human genbank 54_36p 1 validated missense c.164 p.G55D 1 NULL HMMPfam_DUF2211 - no_errors PLEKHF2 79666 broad.mit.edu 36 8 96236166 96236166 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 96236166 96236166 G A SNP PLEKHF2 NM_024613 human genbank 54_36p 1 provisional missense c.718 p.D240N 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF" - no_errors GDF6 392255 broad.mit.edu 36 8 97241878 97241878 + Silent SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 8 97241878 97241878 G A SNP GDF6 NM_001001557 human genbank 54_36p -1 reviewed silent c.219 p.D73 0 NULL "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors MTERFD1 51001 broad.mit.edu 36 8 97325405 97325405 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 97325405 97325405 T A SNP MTERFD1 NM_015942 human genbank 54_36p -1 provisional missense c.977 p.N326I 1 "HMMPfam_mTERF,HMMSmart_SM00733" "HMMPfam_mTERF,HMMSmart_SM00733" - no_errors PTDSS1 9791 broad.mit.edu 36 8 97411676 97411676 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 97411676 97411676 C A SNP PTDSS1 NM_014754 human genbank 54_36p 1 provisional missense c.1233 p.H411Q 1 NULL HMMPfam_PSS - no_errors SDC2 6383 broad.mit.edu 36 8 97674951 97674951 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 97674951 97674951 T G SNP SDC2 NM_002998 human genbank 54_36p 1 reviewed missense c.128 p.V43G 1 HMMPfam_Syndecan "HMMPfam_Syndecan,HMMSmart_SM00294,PatternScan_SYNDECAN" - no_errors SDC2 6383 broad.mit.edu 36 8 97689805 97689805 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 97689805 97689805 G A SNP SDC2 NM_002998 human genbank 54_36p 1 reviewed missense c.373 p.E125K 0.37 HMMPfam_Syndecan "HMMPfam_Syndecan,PatternScan_SYNDECAN,HMMSmart_SM00294" - no_errors TSPYL5 85453 broad.mit.edu 36 8 98358556 98358556 + Silent SNP C C G novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 98358556 98358556 C G SNP TSPYL5 NM_033512 human genbank 54_36p -1 validated silent c.693 p.G231 0.98 HMMPfam_NAP HMMPfam_NAP - no_errors HRSP12 10247 broad.mit.edu 36 8 99185949 99185949 + Splice_Site SNP C C G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 99185949 99185949 C G SNP HRSP12 NM_005836 human genbank 54_36p -1 validated splice_site c.296-1 e5-1 1 - - - no_errors POP1 10940 broad.mit.edu 36 8 99239036 99239036 + Silent SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 99239036 99239036 G A SNP POP1 NM_015029 human genbank 54_36p 1 reviewed silent c.2436 p.L812 1 NULL "HMMPfam_POP1,HMMPfam_POPLD" - no_errors KCNS2 3788 broad.mit.edu 36 8 99510514 99510514 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 99510514 99510514 C T SNP KCNS2 NM_020697 human genbank 54_36p 1 provisional silent c.1131 p.Y377 0.98 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors OSR2 116039 broad.mit.edu 36 8 100030740 100030740 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 100030740 100030740 G A SNP OSR2 NM_053001 human genbank 54_36p 1 validated silent c.384 p.E128 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors OSR2 116039 broad.mit.edu 36 8 100032059 100032059 + Splice_Site SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 100032059 100032059 G T SNP OSR2 NM_053001 human genbank 54_36p 1 validated splice_site c.657-1 e2-1 1 - - - no_errors VPS13B 157680 broad.mit.edu 36 8 100901489 100901489 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 100901489 100901489 T A SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.9032 p.V3011D 1 NULL PatternScan_ZINC_PROTEASE - no_errors VPS13B 157680 broad.mit.edu 36 8 100935306 100935306 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 100935306 100935306 C T SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.10588 p.R3530W 1 NULL PatternScan_ZINC_PROTEASE - no_errors VPS13B 157680 broad.mit.edu 36 8 100935634 100935634 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 100935634 100935634 A G SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.10916 p.Y3639C 1 NULL PatternScan_ZINC_PROTEASE - no_errors VPS13B 157680 broad.mit.edu 36 8 100956946 100956946 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 100956946 100956946 C A SNP VPS13B NM_017890 human genbank 54_36p 1 reviewed missense c.11945 p.A3982D 1 NULL PatternScan_ZINC_PROTEASE - no_errors RGS22 26166 broad.mit.edu 36 8 101068932 101068932 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 101068932 101068932 C A SNP RGS22 NM_015668 human genbank 54_36p -1 validated missense c.3110 p.R1037L 1 "superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315,HMMPfam_RGS" "superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315,HMMPfam_RGS" - no_errors RGS22 26166 broad.mit.edu 36 8 101144951 101144951 + Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 101144951 101144951 A T SNP RGS22 NM_015668 human genbank 54_36p -1 validated nonsense c.1221 p.Y407* 0.99 superfamily_Regulator of G-protein signaling RGS "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" - no_errors SPAG1 6674 broad.mit.edu 36 8 101322343 101322343 + Silent SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 101322343 101322343 C T SNP SPAG1 NM_003114 human genbank 54_36p 1 reviewed silent c.2698 p.L900 1 NULL "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_Protein prenylyltransferase" - no_errors RNF19A 25897 broad.mit.edu 36 8 101351375 101351375 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 101351375 101351375 A T SNP RNF19A NM_015435 human genbank 54_36p -1 reviewed missense c.926 p.I309K 1 "HMMSmart_SM00647,superfamily_RING/U-box" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_IBR,HMMSmart_SM00647" - no_errors ZNF706 51123 broad.mit.edu 36 8 102283138 102283138 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 102283138 102283138 C G SNP ZNF706 NM_001042510 human genbank 54_36p -1 validated missense c.8 p.R3P 1 HMMPfam_DUF1909 "HMMPfam_DUF1909,PatternScan_ZINC_FINGER_C2H2_1" - no_errors UBR5 51366 broad.mit.edu 36 8 103346627 103346627 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 103346627 103346627 T A SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed missense c.7478 p.D2493V 1 "superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" "HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1,superfamily_HECT,superfamily_PABP_HYD,HMMPfam_PABP,HMMSmart_PolyA,HMMSmart_HECTc,HMMPfam_HECT" - no_errors UBR5 51366 broad.mit.edu 36 8 103423938 103423938 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 103423938 103423938 T C SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed missense c.1037 p.K346R 1 NULL "HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_PABP,HMMSmart_PolyA,superfamily_PABP_HYD,HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1" - no_errors RIMS2 9699 broad.mit.edu 36 8 104997935 104997935 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 104997935 104997935 C G SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated missense c.2030 p.P677R 1 "superfamily_PDZ domain-like,HMMSmart_SM00228" "HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors RIMS2 9699 broad.mit.edu 36 8 105012785 105012785 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 105012785 105012785 T C SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated missense c.2363 p.L788P 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_RPH3A_effector,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors RIMS2 9699 broad.mit.edu 36 8 105042518 105042518 + Silent SNP T T C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 105042518 105042518 T C SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated silent c.2751 p.D917 1 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_RPH3A_effector,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger" - no_errors TM7SF4 81501 broad.mit.edu 36 8 105430027 105430027 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 105430027 105430027 C T SNP TM7SF4 NM_030788 human genbank 54_36p 1 reviewed missense c.71 p.P24L 0.97 NULL HMMPfam_DC_STAMP - no_errors TM7SF4 81501 broad.mit.edu 36 8 105430719 105430719 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 105430719 105430719 G C SNP TM7SF4 NM_030788 human genbank 54_36p 1 reviewed missense c.763 p.D255H 1 HMMPfam_DC_STAMP HMMPfam_DC_STAMP - no_errors LRP12 29967 broad.mit.edu 36 8 105590452 105590452 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 105590452 105590452 G C SNP LRP12 NM_013437 human genbank 54_36p -1 reviewed missense c.163 p.R55G 0.69 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors ZFPM2 23414 broad.mit.edu 36 8 106882755 106882755 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 8 106882755 106882755 C G SNP ZFPM2 NM_012082 human genbank 54_36p 1 reviewed missense c.1269 p.S423R 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFPM2 23414 broad.mit.edu 36 8 106884883 106884890 + Frame_Shift_Del DEL AACTTTAT - AACTTTAT novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 AACTTTAT AACTTTAT - - AACTTTAT AACTTTAT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 106884883 106884890 AACTTTAT - DEL ZFPM2 NM_012082 human genbank 54_36p 1 reviewed frame_shift_del c.3397_3404 p.F1134fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[106882451,106884942])" no_errors ANGPT1 284 broad.mit.edu 36 8 108417619 108417619 + Silent SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 108417619 108417619 G T SNP ANGPT1 NM_001146 human genbank 54_36p -1 reviewed silent c.510 p.T170 0.74 NULL "HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors EIF3E 3646 broad.mit.edu 36 8 109309780 109309780 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 109309780 109309780 A T SNP EIF3E NM_001568 human genbank 54_36p -1 validated missense c.614 p.L205H 1 NULL "HMMPfam_eIF3_N,HMMPfam_PCI,HMMSmart_SM00088,superfamily_Winged helix DNA-binding domain" - no_errors TTC35 9694 broad.mit.edu 36 8 109551288 109551288 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 109551288 109551288 A G SNP TTC35 NM_014673 human genbank 54_36p 1 provisional missense c.421 p.I141V 1 superfamily_Prenyl_trans "superfamily_Prenyl_trans,HMMPfam_TPR_2" - no_errors NUDCD1 84955 broad.mit.edu 36 8 110362554 110362554 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110362554 110362554 T A SNP NUDCD1 NM_032869 human genbank 54_36p -1 validated missense c.847 p.T283S 1 "superfamily_HSP20-like chaperones,HMMPfam_CS" "superfamily_HSP20-like chaperones,HMMPfam_CS" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110466974 110466974 + Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 110466974 110466974 A T SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated missense c.508 p.T170S 1 "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" "superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110520364 110520364 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110520364 110520364 G A SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated missense c.3823 p.V1275M 0.62 "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110524400 110524400 + Silent SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110524400 110524400 C T SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated silent c.4443 p.S1481 0.99 superfamily_Cupredoxins "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110526851 110526851 + Silent SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110526851 110526851 C T SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated silent c.5577 p.G1859 0.66 "HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains" "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110573368 110573368 + Nonsense_Mutation SNP T T G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110573368 110573368 T G SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated nonsense c.10205 p.L3402* 0.01 superfamily_Pectin lyase-like "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110604171 110604171 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110604171 110604171 G C SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated missense c.12206 p.R4069T 1 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors PKHD1L1 93035 broad.mit.edu 36 8 110604253 110604253 + Silent SNP G G A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 110604253 110604253 G A SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated silent c.12288 p.Q4096 0.95 NULL "HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen" - no_errors TRPS1 7227 broad.mit.edu 36 8 116499853 116499853 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 116499853 116499853 G A SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.2704 p.R902C 1 superfamily_SSF57716 "HMMSmart_ZnF_C2H2,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors TRPS1 7227 broad.mit.edu 36 8 116701055 116701055 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 116701055 116701055 G A SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.445 p.P149S 1 NULL "HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57716" - no_errors RAD21 5885 broad.mit.edu 36 8 117938792 117938792 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 117938792 117938792 A G SNP RAD21 NM_006265 human genbank 54_36p -1 reviewed missense c.583 p.S195P 1 NULL "HMMPfam_Rad21_Rec8_N,HMMPfam_Rad21_Rec8" - no_errors EXT1 2131 broad.mit.edu 36 8 118899870 118899870 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 8 118899870 118899870 A C SNP EXT1 NM_000127 human genbank 54_36p -1 reviewed missense c.1617 p.I539M 0.99 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64" "HMMPfam_Exostosin,superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64" - no_errors EXT1 2131 broad.mit.edu 36 8 119192014 119192014 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 119192014 119192014 C T SNP EXT1 NM_000127 human genbank 54_36p -1 reviewed silent c.453 p.A151 1 HMMPfam_Exostosin "HMMPfam_Exostosin,HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors COLEC10 10584 broad.mit.edu 36 8 120187264 120187264 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 120187264 120187264 G A SNP COLEC10 NM_006438 human genbank 54_36p 1 reviewed missense c.487 p.V163M 1 "HMMSmart_CLECT,superfamily_C-type_lectin_fold" "HMMPfam_Collagen,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors COLEC10 10584 broad.mit.edu 36 8 120187426 120187426 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 120187426 120187426 G C SNP COLEC10 NM_006438 human genbank 54_36p 1 reviewed missense c.649 p.E217Q 1 "HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold" "HMMPfam_Lectin_C,HMMSmart_CLECT,HMMPfam_Collagen,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1" - no_errors TAF2 6873 broad.mit.edu 36 8 120878471 120878471 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 120878471 120878471 C G SNP TAF2 NM_003184 human genbank 54_36p -1 reviewed missense c.1031 p.R344T 1 "HMMPfam_Peptidase_M1,superfamily_SSF55486" "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486" - no_errors DEPDC6 64798 broad.mit.edu 36 8 120955374 120955374 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 120955374 120955374 C G SNP DEPDC6 NM_022783 human genbank 54_36p 1 validated missense c.107 p.T36S 1 superfamily_SSF46785 "superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP,superfamily_PDZ,HMMSmart_PDZ" - no_errors DEPDC6 64798 broad.mit.edu 36 8 121046796 121046796 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 121046796 121046796 G A SNP DEPDC6 NM_022783 human genbank 54_36p 1 validated missense c.569 p.C190Y 1 "HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785" "HMMPfam_DEP,HMMSmart_DEP,HMMSmart_PDZ,superfamily_PDZ,superfamily_SSF46785" - no_errors DEPDC6 64798 broad.mit.edu 36 8 121130995 121130995 + Splice_Site SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 121130995 121130995 G T SNP DEPDC6 NM_022783 human genbank 54_36p 1 validated splice_site c.1102-1 e9-1 1 - - - no_errors COL14A1 7373 broad.mit.edu 36 8 121312914 121312914 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 121312914 121312914 T C SNP COL14A1 NM_021110 human genbank 54_36p 1 validated missense c.2225 p.V742A 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors MRPL13 28998 broad.mit.edu 36 8 121501290 121501291 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W GC GC Unknown Unknown Somatic Phase_I Capture Broad454 Illumina GAIIx 8 121501290 121501291 GC AA DNP MRPL13 NM_014078 human genbank 54_36p -1 reviewed missense c.376_375 p.LH125FY 1.000:0.980 "superfamily_Ribosomal protein L13,HMMPfam_Ribosomal_L13,PatternScan_RIBOSOMAL_L13" "superfamily_Ribosomal protein L13,HMMPfam_Ribosomal_L13,PatternScan_RIBOSOMAL_L13" - no_errors MTBP 27085 broad.mit.edu 36 8 121600187 121600187 + Silent SNP T T C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 121600187 121600187 T C SNP MTBP NM_022045 human genbank 54_36p 1 provisional silent c.2559 p.C853 0.97 NULL NULL - no_errors ZHX2 22882 broad.mit.edu 36 8 124034733 124034733 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 124034733 124034733 G C SNP ZHX2 NM_014943 human genbank 54_36p 1 reviewed missense c.1802 p.G601A 0.04 NULL "PatternScan_ZINC_FINGER_C2H2_1,PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors FAM83A 84985 broad.mit.edu 36 8 124264603 124264603 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 124264603 124264603 C T SNP FAM83A NM_032899 human genbank 54_36p 1 validated missense c.326 p.A109V 0.04 HMMPfam_DUF1669 "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors ATAD2 29028 broad.mit.edu 36 8 124419057 124419057 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 124419057 124419057 C G SNP ATAD2 NM_014109 human genbank 54_36p -1 reviewed missense c.3040 p.D1014H 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" "HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors ATAD2 29028 broad.mit.edu 36 8 124430768 124430768 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 124430768 124430768 G T SNP ATAD2 NM_014109 human genbank 54_36p -1 reviewed missense c.1744 p.P582T 1 "HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors WDYHV1 55093 broad.mit.edu 36 8 124517878 124517878 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 124517878 124517878 A T SNP WDYHV1 NM_018024 human genbank 54_36p 1 provisional missense c.239 p.Y80F 1 HMMPfam_WDYHV HMMPfam_WDYHV - no_errors ANXA13 312 broad.mit.edu 36 8 124766071 124766071 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 124766071 124766071 T C SNP ANXA13 NM_001003954 human genbank 54_36p -1 reviewed missense c.914 p.D305G 0.95 "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors FER1L6 654463 broad.mit.edu 36 8 125176440 125176440 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 125176440 125176440 G T SNP FER1L6 NM_001039112 human genbank 54_36p 1 validated missense c.4675 p.D1559Y 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB" - no_errors FER1L6 654463 broad.mit.edu 36 8 125184694 125184694 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 125184694 125184694 G A SNP FER1L6 NM_001039112 human genbank 54_36p 1 validated missense c.5252 p.R1751H 1 NULL "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerB,HMMPfam_FerI" - no_errors NDUFB9 4715 broad.mit.edu 36 8 125620702 125620702 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 125620702 125620702 G T SNP NDUFB9 NM_005005 human genbank 54_36p 1 validated missense c.94 p.V32F 0.01 HMMPfam_Complex1_LYR HMMPfam_Complex1_LYR - no_errors ZNF572 137209 broad.mit.edu 36 8 126058708 126058708 + Silent SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 126058708 126058708 T C SNP ZNF572 NM_152412 human genbank 54_36p 1 validated silent c.1017 p.R339 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF572 137209 broad.mit.edu 36 8 126058941 126058941 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 126058941 126058941 G C SNP ZNF572 NM_152412 human genbank 54_36p 1 validated missense c.1250 p.C417S 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors SQLE 6713 broad.mit.edu 36 8 126080835 126080835 + Silent SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 8 126080835 126080835 T A SNP SQLE ENST00000265896 human ensembl 54_36p 1 known silent c.9 p.T3 1 NULL "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,HMMPfam_SE" - no_errors KIAA0196 9897 broad.mit.edu 36 8 126160301 126160301 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 126160301 126160301 C A SNP KIAA0196 NM_014846 human genbank 54_36p -1 validated missense c.572 p.R191L 1 HMMPfam_Strumpellin HMMPfam_Strumpellin - no_errors FAM84B 157638 broad.mit.edu 36 8 127637931 127637931 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 127637931 127637931 G T SNP FAM84B NM_174911 human genbank 54_36p -1 provisional missense c.886 p.P296T 0.09 NULL NULL - no_errors MYC 4609 broad.mit.edu 36 8 128820338 128820338 + Silent SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 128820338 128820338 C T SNP MYC NM_002467 human genbank 54_36p 1 reviewed silent c.693 p.F231 0.99 HMMPfam_Myc_N "HMMPfam_Myc_N,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353,HMMPfam_Myc-LZ" - no_errors ASAP1 50807 broad.mit.edu 36 8 131142388 131142388 + Silent SNP T T C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 131142388 131142388 T C SNP ASAP1 NM_018482 human genbank 54_36p -1 validated silent c.2811 p.G937 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors ASAP1 50807 broad.mit.edu 36 8 131197069 131197069 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 131197069 131197069 T C SNP ASAP1 NM_018482 human genbank 54_36p -1 validated missense c.2159 p.D720G 1 NULL "HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_SSF50729" - no_errors EFR3A 23167 broad.mit.edu 36 8 133084700 133084700 + Silent SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 133084700 133084700 G A SNP EFR3A NM_015137 human genbank 54_36p 1 validated silent c.2346 p.L782 1 NULL superfamily_ARM repeat - no_errors KCNQ3 3786 broad.mit.edu 36 8 133213670 133213670 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 133213670 133213670 G C SNP KCNQ3 NM_004519 human genbank 54_36p -1 reviewed missense c.1823 p.P608R 1 HMMPfam_KCNQ_channel "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors LRRC6 23639 broad.mit.edu 36 8 133706813 133706813 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 133706813 133706813 G T SNP LRRC6 NM_012472 human genbank 54_36p -1 provisional missense c.723 p.D241E 0 NULL "superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00446,HMMPfam_CS" - no_errors TG 7038 broad.mit.edu 36 8 133969910 133969910 + Silent SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 8 133969910 133969910 T C SNP TG NM_003235 human genbank 54_36p 1 validated silent c.2676 p.H892 0.01 "superfamily_Thyroglobulin type-1 domain,HMMSmart_SM00211" "superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2" - no_errors TG 7038 broad.mit.edu 36 8 134004768 134004768 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 134004768 134004768 T C SNP TG NM_003235 human genbank 54_36p 1 validated missense c.4532 p.V1511A 1 superfamily_Thyroglobulin type-1 domain "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 7038 broad.mit.edu 36 8 134103548 134103548 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 134103548 134103548 G A SNP TG NM_003235 human genbank 54_36p 1 validated missense c.7007 p.R2336Q 1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 7038 broad.mit.edu 36 8 134103563 134103563 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 134103563 134103563 G T SNP TG NM_003235 human genbank 54_36p 1 validated missense c.7022 p.G2341V 1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 7038 broad.mit.edu 36 8 134111322 134111322 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 8 134111322 134111322 C T SNP TG NM_003235 human genbank 54_36p 1 validated nonsense c.7111 p.R2371* 0.02 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors SLA 6503 broad.mit.edu 36 8 134141616 134141616 + 5'UTR SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 134141616 134141616 G A SNP SLA NM_001045556 human genbank 54_36p -1 validated 5_prime_untranslated_region c.-29 NULL 0 - - - no_errors NDRG1 10397 broad.mit.edu 36 8 134329302 134329302 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 134329302 134329302 C T SNP NDRG1 NM_006096 human genbank 54_36p -1 reviewed missense c.805 p.V269M 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Ndr" "superfamily_alpha/beta-Hydrolases,HMMPfam_Ndr,PatternScan_PHOSPHOPANTETHEINE" - no_errors NDRG1 10397 broad.mit.edu 36 8 134365720 134365720 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 134365720 134365720 T C SNP NDRG1 NM_006096 human genbank 54_36p -1 reviewed missense c.17 p.Q6R 1 NULL "HMMPfam_Ndr,PatternScan_PHOSPHOPANTETHEINE,superfamily_alpha/beta-Hydrolases" - no_errors FAM135B 51059 broad.mit.edu 36 8 139214033 139214033 + Silent SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 139214033 139214033 G T SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.4206 p.L1402 1 NULL "superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676" - no_errors FAM135B 51059 broad.mit.edu 36 8 139214186 139214186 + Silent SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 139214186 139214186 G T SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.4053 p.G1351 1 NULL "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors FAM135B 51059 broad.mit.edu 36 8 139232705 139232705 + Silent SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139232705 139232705 G A SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.3195 p.P1065 1 NULL "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors FAM135B 51059 broad.mit.edu 36 8 139234445 139234445 + Silent SNP A A G novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139234445 139234445 A G SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.1455 p.N485 0 NULL "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors FAM135B 51059 broad.mit.edu 36 8 139449375 139449375 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139449375 139449375 C A SNP FAM135B NM_015912 human genbank 54_36p -1 validated missense c.34 p.V12L 1 NULL "HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases" - no_errors COL22A1 169044 broad.mit.edu 36 8 139675519 139675519 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139675519 139675519 C T SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.4538 p.R1513Q 0.96 HMMPfam_Collagen "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL22A1 169044 broad.mit.edu 36 8 139687806 139687806 + Silent SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139687806 139687806 C T SNP COL22A1 NM_152888 human genbank 54_36p -1 validated silent c.4104 p.P1368 1 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 broad.mit.edu 36 8 139757998 139757998 + Silent SNP C C A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139757998 139757998 C A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated silent c.3135 p.G1045 0.2 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 broad.mit.edu 36 8 139766688 139766688 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 139766688 139766688 T C SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.2912 p.D971G 0.27 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 broad.mit.edu 36 8 139884330 139884330 + Silent SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139884330 139884330 G A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated silent c.1524 p.G508 0.02 HMMPfam_Collagen "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 broad.mit.edu 36 8 139959187 139959187 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 139959187 139959187 G A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.646 p.R216C 0.99 "HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors COL22A1 169044 broad.mit.edu 36 8 139959299 139959299 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 139959299 139959299 G A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated silent c.534 p.G178 0.98 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like" - no_errors KCNK9 51305 broad.mit.edu 36 8 140699945 140699945 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 140699945 140699945 G A SNP KCNK9 NM_016601 human genbank 54_36p -1 reviewed missense c.863 p.A288V 0.98 superfamily_SSF81324 "superfamily_SSF81324,HMMPfam_Ion_trans_2" - no_errors TRAPPC9 83696 broad.mit.edu 36 8 141103289 141103289 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 141103289 141103289 G C SNP TRAPPC9 NM_031466 human genbank 54_36p -1 provisional missense c.2920 p.L974V 1 HMMPfam_Trs120 HMMPfam_Trs120 - no_errors CHRAC1 54108 broad.mit.edu 36 8 141590861 141590861 + Silent SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 141590861 141590861 C A SNP CHRAC1 NM_017444 human genbank 54_36p 1 validated silent c.81 p.I27 1 "HMMPfam_CBFD_NFYB_HMF,superfamily_Histone-fold" "HMMPfam_CBFD_NFYB_HMF,superfamily_Histone-fold" - no_errors PTK2 5747 broad.mit.edu 36 8 141840502 141840502 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 141840502 141840502 G A SNP PTK2 NM_005607 human genbank 54_36p -1 reviewed nonsense c.1342 p.R448* 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_FERM_2,HMMPfam_Focal_AT,superfamily_Focal_AT" - no_errors SLC45A4 57210 broad.mit.edu 36 8 142296426 142296426 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 142296426 142296426 G A SNP SLC45A4 NM_001080431 human genbank 54_36p -1 provisional silent c.1521 p.V507 0.99 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC45A4 57210 broad.mit.edu 36 8 142297552 142297552 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 142297552 142297552 C T SNP SLC45A4 NM_001080431 human genbank 54_36p -1 provisional missense c.1216 p.D406N 1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC45A4 57210 broad.mit.edu 36 8 142297957 142297957 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 142297957 142297957 G C SNP SLC45A4 NM_001080431 human genbank 54_36p -1 provisional missense c.811 p.P271A 0.96 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors GPR20 2843 broad.mit.edu 36 8 142436438 142436439 + Frame_Shift_Del DEL GG - GG novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 GG GG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 142436438 142436439 GG - DEL GPR20 NM_005293 human genbank 54_36p -1 validated frame_shift_del c.768_767 p.P256fs 0.996:1.000 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[142436129,142437205])" no_errors FLJ43860 389690 broad.mit.edu 36 8 142514506 142514506 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 142514506 142514506 C T SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.3581 p.C1194Y 0.75 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - pseudogene FLJ43860 389690 broad.mit.edu 36 8 142515252 142515252 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 142515252 142515252 G T SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.3498 p.H1166Q 0.84 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - pseudogene TSNARE1 203062 broad.mit.edu 36 8 143411044 143411044 + Silent SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 143411044 143411044 G A SNP TSNARE1 NM_145003 human genbank 54_36p -1 validated silent c.801 p.N267 0.55 superfamily_t-snare "superfamily_t-snare,HMMSmart_t_SNARE,HMMPfam_SNARE" - no_errors TSNARE1 203062 broad.mit.edu 36 8 143423241 143423241 + Silent SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 143423241 143423241 C T SNP TSNARE1 NM_145003 human genbank 54_36p -1 validated silent c.738 p.P246 0.01 NULL "HMMPfam_SNARE,HMMSmart_t_SNARE,superfamily_t-snare" - no_errors BAI1 575 broad.mit.edu 36 8 143566730 143566730 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 143566730 143566730 T C SNP BAI1 NM_001702 human genbank 54_36p 1 reviewed missense c.2312 p.L771P 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors BAI1 575 broad.mit.edu 36 8 143567763 143567763 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 143567763 143567763 C T SNP BAI1 NM_001702 human genbank 54_36p 1 reviewed missense c.2593 p.R865C 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors BAI1 575 broad.mit.edu 36 8 143621771 143621771 + Silent SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 143621771 143621771 G T SNP BAI1 NM_001702 human genbank 54_36p 1 reviewed silent c.4419 p.R1473 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors SLURP1 57152 broad.mit.edu 36 8 143819598 143819600 + In_Frame_Del DEL AGA - AGA novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W AGA AGA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 143819598 143819600 AGA - DEL SLURP1 NM_020427 human genbank 54_36p -1 reviewed in_frame_del c.277_275 p.F92in_frame_del 0.280:0.107:0.004 "superfamily_SSF57302,HMMSmart_LU,HMMPfam_UPAR_LY6" "PatternScan_LY6_UPAR,superfamily_SSF57302,HMMSmart_LU,HMMPfam_UPAR_LY6" "(deletion:cds_exon[143819563,143819696])" no_errors CYP11B1 1584 broad.mit.edu 36 8 143953509 143953509 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 143953509 143953509 G C SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.1264 p.R422G 0.98 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11B1 1584 broad.mit.edu 36 8 143954132 143954132 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 143954132 143954132 C A SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.1119 p.L373F 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11B1 1584 broad.mit.edu 36 8 143957520 143957520 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 143957520 143957520 G T SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.325 p.H109N 0 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11B2 1585 broad.mit.edu 36 8 143991819 143991819 + Silent SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 143991819 143991819 G A SNP CYP11B2 NM_000498 human genbank 54_36p -1 reviewed silent c.1005 p.D335 0.17 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors C8orf31 286122 broad.mit.edu 36 8 144196018 144196018 + Silent SNP C C G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 144196018 144196018 C G SNP C8orf31 NM_173687 human genbank 54_36p 1 predicted silent c.150 p.P50 0 NULL NULL - no_errors C8orf73 642475 broad.mit.edu 36 8 144723877 144723877 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 144723877 144723877 G C SNP C8orf73 NM_001100878 human genbank 54_36p -1 validated missense c.814 p.Q272E 1 NULL superfamily_ARM-type_fold - no_errors NAPRT1 93100 broad.mit.edu 36 8 144728546 144728546 + Silent SNP G G C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 144728546 144728546 G C SNP NAPRT1 NM_145201 human genbank 54_36p -1 validated silent c.1332 p.A444 0.16 NULL "superfamily_Nicotinate/Quinolinate PRTase C-terminal domain-like,HMMPfam_NAPRTase" - no_errors PYCRL 65263 broad.mit.edu 36 8 144759070 144759096 + Splice_Site DEL GGCTGCTCGCAGCCCGCCCTGCTCCAG - GGCTGCTCGCAGCCCGCCCTGCTCCAG novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W GGCTGCTCGCAGCCCGCCCTGCTCCAG GGCTGCTCGCAGCCCGCCCTGCTCCAG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 144759070 144759096 GGCTGCTCGCAGCCCGCCCTGCTCCAG - DEL PYCRL ENST00000377579 human ensembl 54_36p -1 known splice_site_del c.780+4_780+1 e7-1 0.415:0.561:0.398:0.322:0.998:1.000:0.990:1.000:0.997:0.974:0.983:0.929:0.890:0.975:0.973:0.244:0.996:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996 - - "(deletion:intron[144758271,144759093], cds_exon[144759094,144759195])" no_errors SCRIB 23513 broad.mit.edu 36 8 144963074 144963074 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 144963074 144963074 A T SNP SCRIB NM_182706 human genbank 54_36p -1 validated missense c.1808 p.I603N 1 NULL "superfamily_RNI-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors SCRIB 23513 broad.mit.edu 36 8 144967875 144967875 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 144967875 144967875 A C SNP SCRIB NM_182706 human genbank 54_36p -1 validated missense c.366 p.D122E 1 superfamily_RNI-like "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like" - no_errors EPPK1 83481 broad.mit.edu 36 8 145012717 145012717 + Silent SNP C C T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145012717 145012717 C T SNP EPPK1 NM_031308 human genbank 54_36p -1 provisional silent c.6618 p.V2206 0.79 "superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" "HMMSmart_SM00250,superfamily_Plakin repeat,HMMPfam_Plectin" - no_stop_codon:bad_bp_length_for_coding_region EPPK1 83481 broad.mit.edu 36 8 145014470 145014470 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145014470 145014470 C G SNP EPPK1 NM_031308 human genbank 54_36p -1 provisional missense c.4865 p.R1622P 0.23 "HMMSmart_SM00250,superfamily_Plakin repeat" "HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat" - no_stop_codon:bad_bp_length_for_coding_region PLEC 5339 broad.mit.edu 36 8 145064522 145064522 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145064522 145064522 G A SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed missense c.11866 p.P3956S 0.99 "superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" "HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" - no_errors PLEC 5339 broad.mit.edu 36 8 145067627 145067627 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 145067627 145067627 G C SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed missense c.8761 p.Q2921E 0.82 "HMMSmart_SM00250,superfamily_Plakin repeat" "HMMPfam_Plectin,HMMSmart_SM00250,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat" - no_errors PLEC 5339 broad.mit.edu 36 8 145078380 145078380 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145078380 145078380 C T SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed missense c.2399 p.R800Q 0.99 "HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_Plectin,HMMSmart_SM00250,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat" - no_errors PARP10 84875 broad.mit.edu 36 8 145130505 145130505 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145130505 145130505 C G SNP PARP10 NM_032789 human genbank 54_36p -1 validated missense c.1541 p.C514S 0.26 NULL "HMMSmart_UIM,superfamily_SSF56399,HMMPfam_PARP" - no_errors PARP10 84875 broad.mit.edu 36 8 145130869 145130869 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 145130869 145130869 A C SNP PARP10 NM_032789 human genbank 54_36p -1 validated missense c.1289 p.V430G 0.01 NULL "HMMSmart_UIM,HMMPfam_PARP,superfamily_SSF56399" - no_errors PARP10 84875 broad.mit.edu 36 8 145132235 145132235 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145132235 145132235 C T SNP PARP10 NM_032789 human genbank 54_36p -1 validated missense c.157 p.V53I 0.04 NULL "HMMSmart_UIM,HMMPfam_PARP,superfamily_SSF56399" - no_errors SPATC1 375686 broad.mit.edu 36 8 145167078 145167078 + Silent SNP C C T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 145167078 145167078 C T SNP SPATC1 NM_198572 human genbank 54_36p 1 validated silent c.219 p.T73 0.02 NULL NULL - no_errors OPLAH 26873 broad.mit.edu 36 8 145186837 145186837 + Silent SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145186837 145186837 G A SNP OPLAH ENST00000360660 human ensembl 54_36p -1 known silent c.87 p.H29 0.5 HMMPfam_Hydant_A_N "HMMPfam_Hydant_A_N,HMMPfam_Hydantoinase_A,HMMPfam_Hydantoinase_B" - no_errors SHARPIN 81858 broad.mit.edu 36 8 145225878 145225878 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145225878 145225878 C T SNP SHARPIN NM_030974 human genbank 54_36p -1 validated nonsense c.1055 p.W352* 1 "superfamily_NZF domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" "superfamily_Ubiquitin-like,superfamily_NZF domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors SLC39A4 55630 broad.mit.edu 36 8 145608817 145608817 + Silent SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145608817 145608817 G A SNP SLC39A4 NM_130849 human genbank 54_36p -1 reviewed silent c.1857 p.L619 1 HMMPfam_Zip HMMPfam_Zip - no_errors NFKBIL2 4796 broad.mit.edu 36 8 145632078 145632078 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145632078 145632078 C T SNP NFKBIL2 NM_013432 human genbank 54_36p -1 reviewed missense c.2069 p.R690H 0.01 NULL "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_RNI-like,HMMSmart_SM00368" - no_errors CYHR1 50626 broad.mit.edu 36 8 145660466 145660467 + Frame_Shift_Ins INS - C - novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 8 145660466 145660467 - C INS CYHR1 NM_032687 human genbank 54_36p -1 validated frame_shift_ins c.431_430 p.A144fs 0.013:0.010 NULL NULL - no_errors CYHR1 50626 broad.mit.edu 36 8 145660554 145660554 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145660554 145660554 C T SNP CYHR1 NM_032687 human genbank 54_36p -1 validated missense c.343 p.A115T 1 NULL NULL - no_errors KIFC2 90990 broad.mit.edu 36 8 145665712 145665712 + Silent SNP A A C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 145665712 145665712 A C SNP KIFC2 NM_145754 human genbank 54_36p 1 provisional silent c.1254 p.P418 0.93 "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin" "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors RECQL4 9401 broad.mit.edu 36 8 145708862 145708862 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 145708862 145708862 G C SNP RECQL4 NM_004260 human genbank 54_36p -1 validated missense c.2857 p.P953A 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF7 7553 broad.mit.edu 36 8 146038292 146038292 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 146038292 146038292 G T SNP ZNF7 NM_003416 human genbank 54_36p 1 validated missense c.996 p.R332S 0.96 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF7 7553 broad.mit.edu 36 8 146038866 146038866 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 146038866 146038866 C T SNP ZNF7 NM_003416 human genbank 54_36p 1 validated missense c.1570 p.P524S 0.97 superfamily_SSF57667 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF250 58500 broad.mit.edu 36 8 146078081 146078081 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 146078081 146078081 A C SNP ZNF250 NM_001109689 human genbank 54_36p -1 validated missense c.1291 p.S431A 0.01 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF16 7564 broad.mit.edu 36 8 146128093 146128093 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 146128093 146128093 C A SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed missense c.884 p.C295F 0.24 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF16 7564 broad.mit.edu 36 8 146128165 146128165 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 146128165 146128165 C G SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed missense c.812 p.G271A 0.84 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CBWD1 55871 broad.mit.edu 36 9 168930 168930 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 168930 168930 G C SNP CBWD1 NM_018491 human genbank 54_36p -1 validated missense c.40 p.P14A 0.3 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_cobW,HMMPfam_CobW_C,superfamily_Hypothetical protein YjiA C-terminal domain" - no_errors DOCK8 81704 broad.mit.edu 36 9 453545 453545 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 453545 453545 C T SNP DOCK8 NM_203447 human genbank 54_36p 1 validated missense c.5893 p.R1965C 1 HMMPfam_Ded_cyto HMMPfam_Ded_cyto - no_errors KANK1 23189 broad.mit.edu 36 9 702652 702652 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 702652 702652 G A SNP KANK1 NM_015158 human genbank 54_36p 1 reviewed missense c.1886 p.G629D 0.98 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors DMRT1 1761 broad.mit.edu 36 9 884144 884144 + Silent SNP T T A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 884144 884144 T A SNP DMRT1 NM_021951 human genbank 54_36p 1 reviewed silent c.771 p.L257 0.97 NULL "superfamily_Cysteine-rich DNA binding domain (DM domain),HMMPfam_DM,HMMSmart_SM00301,PatternScan_DM_1" - no_errors DMRT3 58524 broad.mit.edu 36 9 980347 980347 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 980347 980347 T A SNP DMRT3 NM_021240 human genbank 54_36p 1 validated missense c.761 p.V254E 1 HMMPfam_DMA "superfamily_DM_DNA_bd,HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1,HMMPfam_DMA" - no_errors VLDLR 7436 broad.mit.edu 36 9 2635614 2635614 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 2635614 2635614 C T SNP VLDLR NM_003383 human genbank 54_36p 1 validated silent c.1353 p.I451 1 superfamily_YWTD domain ############################################################################################################################################################################################################################################################### - no_errors RFX3 5991 broad.mit.edu 36 9 3291562 3291562 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 3291562 3291562 G C SNP RFX3 NM_134428 human genbank 54_36p -1 reviewed missense c.533 p.S178C 1 HMMPfam_RFX_DNA_binding "HMMPfam_RFX1_trans_act,HMMPfam_RFX_DNA_binding,superfamily_Winged helix DNA-binding domain" - no_errors RFX3 5991 broad.mit.edu 36 9 3320481 3320481 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 3320481 3320481 C T SNP RFX3 NM_134428 human genbank 54_36p -1 reviewed missense c.252 p.M84I 1 HMMPfam_RFX1_trans_act "HMMPfam_RFX_DNA_binding,HMMPfam_RFX1_trans_act,superfamily_Winged helix DNA-binding domain" - no_errors GLIS3 169792 broad.mit.edu 36 9 4107947 4107947 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 4107947 4107947 A C SNP GLIS3 NM_001042413 human genbank 54_36p -1 reviewed missense c.1531 p.Y511D 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors AK3 50808 broad.mit.edu 36 9 4708447 4708447 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 9 4708447 4708447 G C SNP AK3 NM_016282 human genbank 54_36p -1 validated missense c.535 p.Q179E 1 "superfamily_SSF52540,HMMPfam_ADK" "superfamily_SSF52540,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE,superfamily_Adenylate_kinase_Znf_lid,HMMPfam_ADK_lid" - no_errors AK3 50808 broad.mit.edu 36 9 4712564 4712564 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 4712564 4712564 C G SNP AK3 NM_016282 human genbank 54_36p -1 validated missense c.213 p.M71I 1 "HMMPfam_ADK,superfamily_SSF52540" "HMMPfam_ADK,PatternScan_ADENYLATE_KINASE,HMMPfam_ADK_lid,superfamily_Adenylate_kinase_Znf_lid,superfamily_SSF52540" - no_errors JAK2 3717 broad.mit.edu 36 9 5055041 5055041 + Splice_Site SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 5055041 5055041 G C SNP JAK2 NM_004972 human genbank 54_36p 1 reviewed splice_site c.1214+1 e7+1 1 - - - no_errors ERMP1 79956 broad.mit.edu 36 9 5791200 5791200 + Silent SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 5791200 5791200 C G SNP ERMP1 NM_024896 human genbank 54_36p -1 validated silent c.2043 p.P681 0.82 NULL "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28" - no_errors KIAA2026 158358 broad.mit.edu 36 9 5913129 5913129 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 5913129 5913129 C T SNP KIAA2026 NM_001017969 human genbank 54_36p -1 validated missense c.2867 p.S956N 1 NULL superfamily_Bromodomain - no_errors RANBP6 26953 broad.mit.edu 36 9 6003873 6003873 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 6003873 6003873 C T SNP RANBP6 NM_012416 human genbank 54_36p -1 validated missense c.1735 p.E579K 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_HEAT" - no_errors GLDC 2731 broad.mit.edu 36 9 6544727 6544736 + Frame_Shift_Del DEL GAAGATTTAG - GAAGATTTAG novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W GAAGATTTAG GAAGATTTAG - - GAAGATTTAG GAAGATTTAG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 6544727 6544736 GAAGATTTAG - DEL GLDC NM_000170 human genbank 54_36p -1 validated frame_shift_del c.2257_2248 p.L750fs 1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.991:1.000:1.000 superfamily_PyrdxlP-dep_Trfase_major "HMMPfam_GDC-P,superfamily_PyrdxlP-dep_Trfase_major" "(deletion:cds_exon[6544669,6544781])" no_errors KDM4C 23081 broad.mit.edu 36 9 7039128 7039128 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 7039128 7039128 A T SNP JMJD2C NM_015061 human genbank 54_36p 1 reviewed missense c.2352 p.E784D 1 NULL "HMMSmart_SM00545,HMMPfam_JmjN,HMMSmart_SM00558,HMMPfam_JmjC,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT" - no_errors KDM4C 23081 broad.mit.edu 36 9 7159927 7159927 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 7159927 7159927 G C SNP JMJD2C ENST00000381306 human ensembl 54_36p 1 known missense c.3031 p.V1011L 0 NULL "HMMSmart_PHD,HMMSmart_TUDOR,HMMSmart_JmjC,HMMPfam_JmjN,HMMSmart_JmjN,HMMPfam_JmjC,superfamily_SSF63748" - no_errors PTPRD 5789 broad.mit.edu 36 9 8321723 8321723 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 8321723 8321723 C T SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed missense c.5393 p.R1798Q 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPRD 5789 broad.mit.edu 36 9 8475897 8475897 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 8475897 8475897 G A SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed missense c.2920 p.P974S 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors PTPRD 5789 broad.mit.edu 36 9 8487241 8487241 + Splice_Site SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 8487241 8487241 C A SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed splice_site c.2349+1 e15+1 1 - - - no_errors C9orf150 286343 broad.mit.edu 36 9 12765880 12765880 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 12765880 12765880 T G SNP C9orf150 NM_203403 human genbank 54_36p 1 validated missense c.166 p.C56G 0.6 NULL NULL - no_errors MPDZ 8777 broad.mit.edu 36 9 13178816 13178816 + Silent SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 13178816 13178816 C A SNP MPDZ NM_003829 human genbank 54_36p -1 validated silent c.2331 p.G777 0.92 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "HMMPfam_L27_2,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors MPDZ 8777 broad.mit.edu 36 9 13196068 13196068 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 13196068 13196068 T C SNP MPDZ NM_003829 human genbank 54_36p -1 validated missense c.1321 p.N441D 1 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_L27_2,superfamily_L27 domain" - no_errors MPDZ 8777 broad.mit.edu 36 9 13214467 13214467 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 13214467 13214467 C A SNP MPDZ NM_003829 human genbank 54_36p -1 validated missense c.299 p.G100V 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_L27_2,superfamily_L27 domain" - no_errors MPDZ 8777 broad.mit.edu 36 9 13214504 13214504 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 13214504 13214504 G C SNP MPDZ NM_003829 human genbank 54_36p -1 validated missense c.262 p.L88V 0.06 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_L27_2,superfamily_L27 domain" - no_errors FREM1 158326 broad.mit.edu 36 9 14832569 14832569 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 14832569 14832569 C G SNP FREM1 NM_144966 human genbank 54_36p -1 validated missense c.1483 p.V495L 1 NULL "superfamily_Cadherin-like,PatternScan_SPASE_I_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" - no_errors FREM1 158326 broad.mit.edu 36 9 14841551 14841551 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 14841551 14841551 G C SNP FREM1 NM_144966 human genbank 54_36p -1 validated missense c.883 p.P295A 1 NULL "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Cadherin-like,superfamily_C-type lectin-like,PatternScan_SPASE_I_1" - no_errors TTC39B 158219 broad.mit.edu 36 9 15215947 15215947 + Silent SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 15215947 15215947 C G SNP TTC39B NM_152574 human genbank 54_36p -1 provisional silent c.141 p.A47 0 NULL "HMMPfam_Deme6,superfamily_TPR-like,HMMSmart_SM00028" - no_errors ADAMTSL1 92949 broad.mit.edu 36 9 18494910 18494910 + Silent SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 18494910 18494910 C T SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated silent c.147 p.C49 1 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,HMMPfam_PLAC" - no_errors ADAMTSL1 92949 broad.mit.edu 36 9 18564169 18564169 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 9 18564169 18564169 G A SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated missense c.379 p.G127R 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors ADAMTSL1 92949 broad.mit.edu 36 9 18766831 18766831 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 18766831 18766831 G T SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated missense c.2604 p.K868N 0.45 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors ADAMTSL1 92949 broad.mit.edu 36 9 18767219 18767219 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 18767219 18767219 C A SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated missense c.2992 p.Q998K 0.98 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors ADAMTSL1 92949 broad.mit.edu 36 9 18896802 18896802 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 18896802 18896802 G T SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated missense c.5074 p.V1692L 1 "HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors HAUS6 54801 broad.mit.edu 36 9 19048102 19048102 + Missense_Mutation SNP T T A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 19048102 19048102 T A SNP FAM29A NM_017645 human genbank 54_36p -1 provisional missense c.2663 p.H888L 0.01 NULL NULL - no_errors HAUS6 54801 broad.mit.edu 36 9 19053008 19053008 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 19053008 19053008 C T SNP FAM29A NM_017645 human genbank 54_36p -1 provisional missense c.1627 p.E543K 1 NULL NULL - no_errors DENND4C 55667 broad.mit.edu 36 9 19336478 19336478 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 19336478 19336478 T G SNP DENND4C NM_017925 human genbank 54_36p 1 provisional missense c.2856 p.I952M 0.01 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_PPR" - no_errors SLC24A2 25769 broad.mit.edu 36 9 19506389 19506389 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 19506389 19506389 G A SNP SLC24A2 NM_020344 human genbank 54_36p -1 provisional missense c.1748 p.P583L 1 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex - no_errors KIAA1797 54914 broad.mit.edu 36 9 20730325 20730325 + Silent SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 20730325 20730325 T C SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated silent c.378 p.S126 0 NULL superfamily_ARM-type_fold - no_errors KIAA1797 54914 broad.mit.edu 36 9 20864701 20864701 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 20864701 20864701 C G SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated missense c.2212 p.P738A 0 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1797 54914 broad.mit.edu 36 9 20875120 20875120 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 20875120 20875120 T A SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated missense c.2516 p.F839Y 1 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1797 100133636 broad.mit.edu 36 9 20913752 20913752 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 20913752 20913752 T A SNP LOC100133636 XM_001716178 human genbank 54_36p -1 model nonsense c.1345 p.R449* 0.91 NULL NULL - no_start_codon:pseudogene:no_stop_codon KIAA1797 54914 broad.mit.edu 36 9 20943038 20943038 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 20943038 20943038 G A SNP KIAA1797 NM_017794 human genbank 54_36p 1 validated missense c.4106 p.G1369D 1 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors IFNW1 3467 broad.mit.edu 36 9 21131017 21131017 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 21131017 21131017 G A SNP IFNW1 NM_002177 human genbank 54_36p -1 provisional silent c.553 p.L185 0 "HMMPfam_Interferon,superfamily_4_helix_cytokine" "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D" - no_errors IFNA4 3441 broad.mit.edu 36 9 21177176 21177176 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 21177176 21177176 G A SNP IFNA4 NM_021068 human genbank 54_36p -1 validated silent c.355 p.L119 0.07 "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd" "HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D" - no_errors KLHL9 55958 broad.mit.edu 36 9 21323629 21323629 + Silent SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 21323629 21323629 A G SNP KLHL9 NM_018847 human genbank 54_36p -1 validated silent c.1230 p.A410 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors KLHL9 55958 broad.mit.edu 36 9 21323996 21323996 + Nonsense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 21323996 21323996 G C SNP KLHL9 NM_018847 human genbank 54_36p -1 validated nonsense c.863 p.S288* 1 superfamily_Galactose oxidase central domain "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors IFNA13 3447 broad.mit.edu 36 9 21357904 21357904 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 21357904 21357904 T A SNP IFNA13 NM_006900 human genbank 54_36p -1 validated missense c.103 p.R35W 0 "HMMPfam_Interferon,superfamily_4-helical cytokines" "HMMPfam_Interferon,superfamily_4-helical cytokines,HMMSmart_SM00076,PatternScan_INTERFERON_A_B_D" - no_errors IFNA13 3447 broad.mit.edu 36 9 21357973 21357973 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 21357973 21357973 C A SNP IFNA13 NM_006900 human genbank 54_36p -1 validated missense c.34 p.V12L 0 HMMPfam_Interferon "HMMPfam_Interferon,HMMSmart_SM00076,PatternScan_INTERFERON_A_B_D,superfamily_4-helical cytokines" - no_errors ELAVL2 1993 broad.mit.edu 36 9 23682598 23682598 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 9 23682598 23682598 A T SNP ELAVL2 NM_004432 human genbank 54_36p -1 validated missense c.1037 p.V346E 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors C9orf11 54586 broad.mit.edu 36 9 27276331 27276331 + Missense_Mutation SNP T T A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 27276331 27276331 T A SNP C9orf11 NM_020641 human genbank 54_36p -1 provisional missense c.511 p.N171Y 0 NULL NULL - no_errors MOBKL2B 79817 broad.mit.edu 36 9 27445162 27445162 + Silent SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 27445162 27445162 G A SNP MOBKL2B NM_024761 human genbank 54_36p -1 reviewed silent c.387 p.I129 1 "HMMPfam_Mob1_phocein,superfamily_Mob1_phocein" "HMMPfam_Mob1_phocein,superfamily_Mob1_phocein" - no_errors C9orf72 203228 broad.mit.edu 36 9 27538308 27538308 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 27538308 27538308 C G SNP C9orf72 NM_018325 human genbank 54_36p -1 validated missense c.1372 p.G458R 1 NULL NULL - no_errors C9orf72 203228 broad.mit.edu 36 9 27556898 27556918 + In_Frame_Del DEL TTTCGAAGGATTTCTCCATTT - TTTCGAAGGATTTCTCCATTT novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 TTTCGAAGGATTTCTCCATTT TTTCGAAGGATTTCTCCATTT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 27556898 27556918 TTTCGAAGGATTTCTCCATTT - DEL C9orf72 NM_018325 human genbank 54_36p -1 validated in_frame_del c.221_201 p.NGEILRN68in_frame_del 1.000:1.000:0.993:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.996 NULL NULL "(deletion:cds_exon[27556675,27557118])" no_errors LINGO2 158038 broad.mit.edu 36 9 27939897 27939897 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 27939897 27939897 T C SNP LINGO2 NM_152570 human genbank 54_36p -1 provisional missense c.773 p.N258S 1 "superfamily_SSF52058,HMMPfam_LRR_1" "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors LINGO2 158038 broad.mit.edu 36 9 27940233 27940233 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 27940233 27940233 T C SNP LINGO2 NM_152570 human genbank 54_36p -1 provisional missense c.437 p.D146G 1 superfamily_SSF52058 "HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058" - no_errors ACO1 48 broad.mit.edu 36 9 32398612 32398612 + Missense_Mutation SNP G G T rs41304757 Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 32398612 32398612 G T SNP ACO1 NM_002197 human genbank 54_36p 1 reviewed missense c.367 p.V123L 1 "superfamily_Aconitase iron-sulfur domain,HMMPfam_Aconitase" "superfamily_Aconitase iron-sulfur domain,HMMPfam_Aconitase,PatternScan_ACONITASE_1,PatternScan_ACONITASE_2,superfamily_Aconitase,HMMPfam_Aconitase_C" - no_errors DDX58 23586 broad.mit.edu 36 9 32475257 32475257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 32475257 32475257 G A SNP DDX58 NM_014314 human genbank 54_36p -1 reviewed missense c.1396 p.R466W 0.06 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors DDX58 23586 broad.mit.edu 36 9 32477984 32477984 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 32477984 32477984 G C SNP DDX58 NM_014314 human genbank 54_36p -1 reviewed missense c.1171 p.L391V 1 "HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TOPORS 10210 broad.mit.edu 36 9 32532101 32532101 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 32532101 32532101 C A SNP TOPORS NM_005802 human genbank 54_36p -1 validated nonsense c.2422 p.E808* 0.03 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors TOPORS 10210 broad.mit.edu 36 9 32533969 32533969 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 32533969 32533969 G T SNP TOPORS NM_005802 human genbank 54_36p -1 validated missense c.554 p.T185K 1 NULL "HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors SMU1 55234 broad.mit.edu 36 9 33050569 33050569 + Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 33050569 33050569 G T SNP SMU1 NM_018225 human genbank 54_36p -1 validated nonsense c.644 p.S215* 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00667,HMMSmart_SM00668,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors SMU1 55234 broad.mit.edu 36 9 33066580 33066580 + Splice_Site SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 33066580 33066580 C T SNP SMU1 NM_018225 human genbank 54_36p -1 validated splice_site c.26+1 e1+1 1 - - - no_errors NOL6 65083 broad.mit.edu 36 9 33456615 33456615 + Silent SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 33456615 33456615 C T SNP NOL6 NM_022917 human genbank 54_36p -1 reviewed silent c.2043 p.L681 1 HMMPfam_Nrap HMMPfam_Nrap - no_errors KIF24 347240 broad.mit.edu 36 9 34246558 34246558 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 34246558 34246558 G C SNP KIF24 NM_194313 human genbank 54_36p -1 validated missense c.3047 p.P1016R 0 NULL "HMMPfam_SAM_1,superfamily_SAM/Pointed domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF24 347240 broad.mit.edu 36 9 34247952 34247952 + Silent SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 34247952 34247952 C T SNP KIF24 NM_194313 human genbank 54_36p -1 validated silent c.1653 p.K551 0.58 HMMSmart_SM00129 "HMMPfam_SAM_1,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_SAM/Pointed domain,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIAA1161 57462 broad.mit.edu 36 9 34361740 34361740 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 34361740 34361740 C T SNP KIAA1161 ENST00000297625 human ensembl 54_36p -1 known missense c.1100 p.R367H 1 "HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases" - no_errors CNTFR 1271 broad.mit.edu 36 9 34542726 34542726 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 34542726 34542726 C T SNP CNTFR NM_001842 human genbank 54_36p -1 reviewed missense c.895 p.A299T 1 superfamily_Fibronectin type III "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3" - no_errors CNTFR 1271 broad.mit.edu 36 9 34547627 34547627 + Silent SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 34547627 34547627 G T SNP CNTFR NM_001842 human genbank 54_36p -1 reviewed silent c.501 p.R167 0.92 superfamily_Fibronectin type III "PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors CNTFR 1271 broad.mit.edu 36 9 34554662 34554662 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 34554662 34554662 C G SNP CNTFR NM_001842 human genbank 54_36p -1 reviewed missense c.254 p.G85A 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors ARID3C 138715 broad.mit.edu 36 9 34612527 34612527 + Splice_Site SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 34612527 34612527 C G SNP ARID3C NM_001017363 human genbank 54_36p -1 reviewed splice_site c.866-1 e5-1 0.99 - - - no_errors IL11RA 3590 broad.mit.edu 36 9 34647128 34647128 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 34647128 34647128 G A SNP IL11RA NM_004512 human genbank 54_36p 1 reviewed missense c.428 p.R143H 1 "superfamily_Fibronectin type III,HMMSmart_SM00060" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F3,HMMPfam_fn3" - no_errors CCL27 10850 broad.mit.edu 36 9 34652602 34652602 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 34652602 34652602 A G SNP CCL27 NM_006664 human genbank 54_36p -1 reviewed missense c.29 p.L10P 0.59 NULL superfamily_Interleukin 8-like chemokines - no_errors DNAJB5 25822 broad.mit.edu 36 9 34987056 34987056 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 34987056 34987056 A C SNP DNAJB5 NM_012266 human genbank 54_36p 1 validated missense c.847 p.I283L 0.98 "HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain" "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP40/DnaJ peptide-binding domain,HMMPfam_DnaJ_C" - no_errors FANCG 2189 broad.mit.edu 36 9 35065483 35065483 + Missense_Mutation SNP A A T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 9 35065483 35065483 A T SNP FANCG NM_004629 human genbank 54_36p -1 reviewed missense c.1412 p.V471E 1 superfamily_TPR-like "superfamily_TPR-like,HMMSmart_SM00028" - no_errors FANCG 2189 broad.mit.edu 36 9 35066001 35066001 + Silent SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 9 35066001 35066001 G A SNP FANCG NM_004629 human genbank 54_36p -1 reviewed silent c.1101 p.Y367 1 superfamily_TPR-like "HMMSmart_SM00028,superfamily_TPR-like" - no_errors PIGO 84720 broad.mit.edu 36 9 35081650 35081650 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 35081650 35081650 C T SNP PIGO NM_032634 human genbank 54_36p -1 reviewed missense c.2234 p.R745Q 1 NULL "superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest" - no_errors KIAA1539 80256 broad.mit.edu 36 9 35097610 35097610 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 35097610 35097610 T C SNP KIAA1539 NM_025182 human genbank 54_36p -1 predicted missense c.662 p.N221S 1 NULL NULL - no_errors UNC13B 10497 broad.mit.edu 36 9 35300543 35300543 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 35300543 35300543 C T SNP UNC13B NM_006377 human genbank 54_36p 1 reviewed missense c.841 p.H281Y 0.31 NULL "HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors UNC13B 10497 broad.mit.edu 36 9 35376219 35376219 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 35376219 35376219 G T SNP UNC13B NM_006377 human genbank 54_36p 1 reviewed missense c.2776 p.A926S 1 HMMPfam_DUF1041 "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors RUSC2 9853 broad.mit.edu 36 9 35550620 35550620 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 35550620 35550620 G C SNP RUSC2 NM_014806 human genbank 54_36p 1 validated missense c.3983 p.C1328S 1 NULL "HMMPfam_RUN,HMMSmart_SM00593,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors FAM166B 730112 broad.mit.edu 36 9 35552533 35552533 + Missense_Mutation SNP C C G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 35552533 35552533 C G SNP FAM166B ENST00000399742 human ensembl 54_36p -1 known missense c.583 p.G195R 1 NULL HMMPfam_DUF2475 - no_errors CA9 768 broad.mit.edu 36 9 35669329 35669329 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 35669329 35669329 G T SNP CA9 NM_001216 human genbank 54_36p 1 reviewed missense c.1055 p.S352I 0.88 "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase" "superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors TPM2 7169 broad.mit.edu 36 9 35679193 35679193 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 35679193 35679193 C G SNP TPM2 NM_003289 human genbank 54_36p -1 reviewed missense c.190 p.V64L 0.83 HMMPfam_Tropomyosin "HMMPfam_Tropomyosin,PatternScan_TROPOMYOSIN" - no_errors TLN1 7094 broad.mit.edu 36 9 35689450 35689450 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 35689450 35689450 C A SNP TLN1 NM_006289 human genbank 54_36p -1 reviewed missense c.6777 p.Q2259H 1 NULL "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ" - no_errors TLN1 7094 broad.mit.edu 36 9 35714624 35714624 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 35714624 35714624 C A SNP TLN1 NM_006289 human genbank 54_36p -1 reviewed silent c.456 p.L152 1 "HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236" "HMMPfam_I_LWEQ,HMMSmart_ILWEQ,HMMPfam_VBS,HMMPfam_Talin_middle,superfamily_Talin_cent,HMMPfam_FERM_N,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF109885,superfamily_SSF50729,superfamily_SSF54236" - no_errors RGP1 9827 broad.mit.edu 36 9 35741705 35741705 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 35741705 35741705 T C SNP RGP1 NM_001080496 human genbank 54_36p 1 provisional missense c.836 p.V279A 1 HMMPfam_Rgp1 HMMPfam_Rgp1 - no_errors RECK 8434 broad.mit.edu 36 9 36092105 36092105 + Missense_Mutation SNP A A T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 36092105 36092105 A T SNP RECK NM_021111 human genbank 54_36p 1 reviewed missense c.1313 p.E438V 1 NULL "superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2,HMMSmart_SM00280,PatternScan_KAZAL" - no_errors CCIN 881 broad.mit.edu 36 9 36160503 36160503 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 36160503 36160503 C A SNP CCIN NM_005893 human genbank 54_36p 1 reviewed missense c.1004 p.T335N 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,PatternScan_MULTICOPPER_OXIDASE1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1,PatternScan_MULTICOPPER_OXIDASE1" - no_errors FRMPD1 22844 broad.mit.edu 36 9 37722367 37722367 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 37722367 37722367 G C SNP FRMPD1 NM_014907 human genbank 54_36p 1 provisional missense c.925 p.A309P 1 "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" "PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" - no_errors FRMPD1 22844 broad.mit.edu 36 9 37723549 37723549 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 37723549 37723549 A G SNP FRMPD1 NM_014907 human genbank 54_36p 1 provisional missense c.1075 p.S359G 1 "HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41" "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41" - no_errors FRMPD1 22844 broad.mit.edu 36 9 37735741 37735741 + Missense_Mutation SNP G G T rs62640014 Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 37735741 37735741 G T SNP FRMPD1 NM_014907 human genbank 54_36p 1 provisional missense c.3712 p.D1238Y 0 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41" - no_errors MCART1 92014 broad.mit.edu 36 9 37878379 37878379 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 37878379 37878379 G A SNP MCART1 NM_033412 human genbank 54_36p -1 validated nonsense c.169 p.R57* 1 "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" "superfamily_Mitoch_carrier,HMMPfam_Mito_carr" - no_errors FAM75A3 727830 broad.mit.edu 36 9 40694225 40694225 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 40694225 40694225 G A SNP FAM75A3 NM_001083124 human genbank 54_36p 1 predicted missense c.1882 p.D628N 0 NULL NULL - no_errors ANKRD20A2 441430 broad.mit.edu 36 9 42358515 42358515 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 42358515 42358515 G T SNP ANKRD20A2 NM_001012421 human genbank 54_36p 1 validated missense c.105 p.Q35H 0 superfamily_ANK "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" - no_errors FAM75A7 26165 broad.mit.edu 36 9 65247358 65247358 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 65247358 65247358 C T SNP FAM75A7 NM_015667 human genbank 54_36p -1 validated missense c.277 p.E93K 0 NULL NULL - no_errors FOXD4L3 286380 broad.mit.edu 36 9 70108671 70108671 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 70108671 70108671 A T SNP FOXD4L3 NM_199135 human genbank 54_36p 1 validated missense c.984 p.R328S 1 NULL "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors PRKACG 5568 broad.mit.edu 36 9 70818072 70818072 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 70818072 70818072 A G SNP PRKACG NM_002732 human genbank 54_36p -1 reviewed missense c.757 p.S253P 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X" - no_errors PTAR1 375743 broad.mit.edu 36 9 71523211 71523211 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 71523211 71523211 G C SNP PTAR1 NM_001099666 human genbank 54_36p -1 validated missense c.1076 p.T359R 1 NULL "superfamily_Prenyl_trans,HMMPfam_PPTA" - no_errors SMC5 23137 broad.mit.edu 36 9 72087265 72087265 + Silent SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 72087265 72087265 A T SNP SMC5 NM_015110 human genbank 54_36p 1 validated silent c.927 p.R309 0.42 "HMMPfam_SMC_N,superfamily_SSF52540" "HMMPfam_SMC_N,superfamily_SSF52540" - no_errors SMC5 23137 broad.mit.edu 36 9 72128856 72128856 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 72128856 72128856 T C SNP SMC5 NM_015110 human genbank 54_36p 1 validated missense c.2374 p.S792P 0 "HMMPfam_SMC_N,superfamily_SSF52540" "HMMPfam_SMC_N,superfamily_SSF52540" - no_errors TRPM3 80036 broad.mit.edu 36 9 72341321 72341321 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 72341321 72341321 G A SNP TRPM3 NM_001007471 human genbank 54_36p -1 reviewed missense c.4492 p.R1498C 1 NULL HMMPfam_Ion_trans - no_errors TRPM3 80036 broad.mit.edu 36 9 72357937 72357937 + Silent SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 72357937 72357937 C A SNP TRPM3 NM_001007471 human genbank 54_36p -1 reviewed silent c.3297 p.V1099 1 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors TRPM3 80036 broad.mit.edu 36 9 72615968 72615968 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 72615968 72615968 A T SNP TRPM3 NM_206946 human genbank 54_36p -1 reviewed missense c.527 p.F176Y 1 NULL HMMPfam_Ion_trans - no_errors TRPM3 80036 broad.mit.edu 36 9 72667692 72667692 + Silent SNP A A C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 72667692 72667692 A C SNP TRPM3 NM_001007471 human genbank 54_36p -1 reviewed silent c.414 p.A138 1 NULL HMMPfam_Ion_trans - no_errors TMEM2 23670 broad.mit.edu 36 9 73494923 73494923 + Silent SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 73494923 73494923 C T SNP TMEM2 NM_013390 human genbank 54_36p -1 validated silent c.3756 p.P1252 0.98 NULL "HMMPfam_G8,superfamily_Pectin lyase-like" - no_errors TMEM2 23670 broad.mit.edu 36 9 73555065 73555065 + Silent SNP T T C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 73555065 73555065 T C SNP TMEM2 NM_013390 human genbank 54_36p -1 validated silent c.45 p.Q15 0.94 NULL "superfamily_Pectin lyase-like,HMMPfam_G8" - no_errors TMC1 117531 broad.mit.edu 36 9 74625673 74625673 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 74625673 74625673 A G SNP TMC1 NM_138691 human genbank 54_36p 1 reviewed missense c.1859 p.N620S 1 HMMPfam_TMC HMMPfam_TMC - no_errors TRPM6 140803 broad.mit.edu 36 9 76560104 76560104 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 76560104 76560104 T C SNP TRPM6 NM_017662 human genbank 54_36p -1 validated missense c.4891 p.K1631E 0.87 NULL "HMMPfam_Ion_trans,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase" - no_errors C9orf41 138199 broad.mit.edu 36 9 76821115 76821115 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 76821115 76821115 G A SNP C9orf41 NM_152420 human genbank 54_36p -1 predicted missense c.479 p.S160F 1 "HMMPfam_N2227,superfamily_SSF53335" "HMMPfam_N2227,superfamily_SSF53335" - no_errors PCSK5 5125 broad.mit.edu 36 9 77974504 77974504 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 77974504 77974504 G C SNP PCSK5 NM_006200 human genbank 54_36p 1 reviewed missense c.1684 p.E562Q 1 "superfamily_Galactose-binding domain-like,HMMPfam_P_proprotein" ############################################################################################################################################################################################################################################################### - no_errors FOXB2 442425 broad.mit.edu 36 9 78824772 78824772 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 78824772 78824772 C T SNP FOXB2 NM_001013735 human genbank 54_36p 1 provisional missense c.382 p.P128S 0.02 NULL "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors VPS13A 23230 broad.mit.edu 36 9 79086871 79086871 + Frame_Shift_Del DEL T - T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 79086871 79086871 T - DEL VPS13A NM_033305 human genbank 54_36p 1 reviewed frame_shift_del c.2979 p.L994fs 1 NULL HMMPfam_DUF1162 "(deletion:cds_exon[79086857,79087010])" no_errors GNA14 9630 broad.mit.edu 36 9 79228878 79228878 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 79228878 79228878 C T SNP GNA14 NM_004297 human genbank 54_36p -1 reviewed missense c.905 p.R302K 1 "HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00275" "HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain" - no_errors CEP78 84131 broad.mit.edu 36 9 80071219 80071219 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 80071219 80071219 C T SNP CEP78 NM_001098802 human genbank 54_36p 1 validated silent c.1890 p.L630 0.03 NULL superfamily_SSF52047 - no_errors PSAT1 29968 broad.mit.edu 36 9 80132916 80132922 + Frame_Shift_Del DEL AGGGCAT - AGGGCAT novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W AGGGCAT AGGGCAT - - AGGGCAT AGGGCAT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 80132916 80132922 AGGGCAT - DEL PSAT1 NM_058179 human genbank 54_36p 1 reviewed frame_shift_del c.999_1005 p.H335fs 1.000:1.000:1.000:1.000:1.000:1.000:0.995 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5,PatternScan_AA_TRANSFER_CLASS_5" "(deletion:cds_exon[80132787,80132924])" no_errors TLE1 7088 broad.mit.edu 36 9 83390311 83390311 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 83390311 83390311 A T SNP TLE1 NM_005077 human genbank 54_36p -1 provisional missense c.2057 p.V686E 1 superfamily_WD40 repeat-like "HMMPfam_TLE_N,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FAM75D1 389763 broad.mit.edu 36 9 83797131 83797131 + Silent SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 83797131 83797131 G T SNP FLJ46321 NM_001001670 human genbank 54_36p 1 validated silent c.1926 p.V642 0 NULL NULL - no_errors FAM75D1 389763 broad.mit.edu 36 9 83797393 83797393 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 83797393 83797393 G C SNP FLJ46321 NM_001001670 human genbank 54_36p 1 validated missense c.2188 p.G730R 0.01 NULL NULL - no_errors FRMD3 257019 broad.mit.edu 36 9 85147995 85147995 + Silent SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 85147995 85147995 C T SNP FRMD3 NM_174938 human genbank 54_36p -1 validated silent c.402 p.R134 0.99 "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,PatternScan_PPASE" - no_errors RMI1 80010 broad.mit.edu 36 9 85806843 85806844 + Nonsense_Mutation DNP TG TG AT novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 85806843 85806844 TG AT DNP RMI1 NM_024945 human genbank 54_36p 1 validated nonsense c.1122_1123 p.SEK374R* 0.186:0.251 NULL "HMMPfam_DUF1767,HMMPfam_tRNA_anti" - no_errors AGTPBP1 23287 broad.mit.edu 36 9 87437732 87437732 + Silent SNP A A T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 87437732 87437732 A T SNP AGTPBP1 NM_015239 human genbank 54_36p -1 validated silent c.1560 p.L520 0.2 NULL "superfamily_ARM-type_fold,superfamily_SSF53187,HMMPfam_Peptidase_M14" - no_errors ZCCHC6 79670 broad.mit.edu 36 9 88113952 88113952 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 88113952 88113952 C T SNP ZCCHC6 NM_024617 human genbank 54_36p -1 validated missense c.3655 p.E1219K 1 superfamily_PAP/OAS1 substrate-binding domain "HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2,superfamily_Retrovirus zinc finger-like domains" - no_errors CTSL1 1514 broad.mit.edu 36 9 89532444 89532444 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 89532444 89532444 C T SNP CTSL1 NM_001912 human genbank 54_36p 1 reviewed missense c.106 p.H36Y 0.01 "superfamily_SSF54001,HMMPfam_Inhibitor_I29" "superfamily_SSF54001,HMMPfam_Inhibitor_I29,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN" - no_errors CTSL1 1514 broad.mit.edu 36 9 89533085 89533085 + Frame_Shift_Del DEL C - C novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 89533085 89533085 C - DEL CTSL1 NM_001912 human genbank 54_36p 1 reviewed frame_shift_del c.350 p.S117fs 0.72 "superfamily_SSF54001,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1" "superfamily_SSF54001,HMMPfam_Inhibitor_I29,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN" "(deletion:cds_exon[89532985,89533131])" no_errors CTSL1 1514 broad.mit.edu 36 9 89533497 89533497 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 89533497 89533497 G A SNP CTSL1 NM_001912 human genbank 54_36p 1 reviewed missense c.574 p.D192N 0.96 "HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001" "PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,HMMPfam_Inhibitor_I29,superfamily_SSF54001" - no_errors C9orf79 286234 broad.mit.edu 36 9 89691825 89691825 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 89691825 89691825 C T SNP C9orf79 NM_178828 human genbank 54_36p 1 validated missense c.2603 p.P868L 0 NULL NULL - no_errors S1PR3 1903 broad.mit.edu 36 9 90806353 90806353 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 90806353 90806353 A G SNP S1PR3 NM_005226 human genbank 54_36p 1 reviewed missense c.418 p.M140V 1 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors S1PR3 1903 broad.mit.edu 36 9 90806932 90806932 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 90806932 90806932 G C SNP S1PR3 NM_005226 human genbank 54_36p 1 reviewed missense c.997 p.D333H 1 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors SECISBP2 79048 broad.mit.edu 36 9 91130309 91130309 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 91130309 91130309 G C SNP SECISBP2 NM_024077 human genbank 54_36p 1 reviewed missense c.330 p.Q110H 0.12 NULL "superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae" - no_errors ROR2 4920 broad.mit.edu 36 9 93526859 93526859 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 93526859 93526859 C A SNP ROR2 NM_004560 human genbank 54_36p -1 reviewed missense c.1738 p.D580Y 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR" - no_errors SPTLC1 10558 broad.mit.edu 36 9 93861412 93861412 + Splice_Site SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 93861412 93861412 C T SNP SPTLC1 NM_006415 human genbank 54_36p -1 reviewed splice_site c.561-1 e7-1 1 - - - no_errors CENPP 401541 broad.mit.edu 36 9 94134349 94134349 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 9 94134349 94134349 C A SNP CENPP NM_001012267 human genbank 54_36p 1 validated missense c.184 p.H62N 0.61 NULL NULL - no_errors OMD 4958 broad.mit.edu 36 9 94217401 94217401 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 94217401 94217401 G C SNP OMD NM_005014 human genbank 54_36p -1 validated missense c.1120 p.Q374E 1 superfamily_L domain-like "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors OMD 4958 broad.mit.edu 36 9 94219641 94219641 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 94219641 94219641 T C SNP OMD NM_005014 human genbank 54_36p -1 validated missense c.21 p.I7M 0.6 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like" - no_errors FGD3 619477 broad.mit.edu 36 9 94778675 94778675 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 94778675 94778675 G C SNP FGD3 NM_001083536 human genbank 54_36p 1 validated missense c.316 p.G106R 0.11 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE" - no_errors SUSD3 203328 broad.mit.edu 36 9 94877923 94877923 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 94877923 94877923 C A SNP SUSD3 NM_145006 human genbank 54_36p 1 provisional missense c.125 p.T42N 0.99 "superfamily_Complement control module/SCR domain,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMSmart_SM00032" - no_errors C9orf89 84270 broad.mit.edu 36 9 94912803 94912803 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 94912803 94912803 C G SNP C9orf89 NM_032310 human genbank 54_36p 1 validated missense c.283 p.L95V 0.36 NULL NULL - no_errors C9orf129 445577 broad.mit.edu 36 9 95121273 95121273 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 95121273 95121273 T G SNP C9orf129 NM_001098808 human genbank 54_36p -1 predicted missense c.370 p.T124P 1 NULL NULL - no_errors PHF2 5253 broad.mit.edu 36 9 95456662 95456662 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 95456662 95456662 C T SNP PHF2 NM_005392 human genbank 54_36p 1 reviewed silent c.936 p.T312 0.75 "superfamily_SSF51197,HMMSmart_JmjC,HMMPfam_JmjC" "superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SSF51197,HMMSmart_JmjC,HMMPfam_JmjC" - no_errors PHF2 5253 broad.mit.edu 36 9 95475949 95475949 + Silent SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 95475949 95475949 C T SNP PHF2 NM_005392 human genbank 54_36p 1 reviewed silent c.2610 p.F870 1 NULL "HMMSmart_PHD,HMMSmart_JmjC,superfamily_FYVE_PHD_ZnF,HMMPfam_JmjC,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SSF51197" - no_errors ZNF169 169841 broad.mit.edu 36 9 96102301 96102301 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 96102301 96102301 C T SNP ZNF169 NM_194320 human genbank 54_36p 1 validated missense c.640 p.R214C 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HIATL1 84641 broad.mit.edu 36 9 96247096 96247096 + Silent SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 96247096 96247096 C T SNP HIATL1 NM_032558 human genbank 54_36p 1 validated silent c.540 p.V180 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1" - no_errors FANCC 2176 broad.mit.edu 36 9 96909354 96909354 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 96909354 96909354 G T SNP FANCC NM_000136 human genbank 54_36p -1 reviewed missense c.1348 p.L450M 0 HMMPfam_Fanconi_C HMMPfam_Fanconi_C - no_errors PTCH1 5727 broad.mit.edu 36 9 97249263 97249263 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 97249263 97249263 G T SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.4096 p.Q1366K 1 NULL "HMMPfam_Patched,superfamily_SSF82866" - no_errors PTCH1 5727 broad.mit.edu 36 9 97258384 97258384 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 97258384 97258384 C A SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.3301 p.A1101S 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors HABP4 22927 broad.mit.edu 36 9 98260549 98260549 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 98260549 98260549 G A SNP HABP4 NM_014282 human genbank 54_36p 1 validated missense c.417 p.M139I 0 NULL HMMPfam_HABP4_PAI-RBP1 - no_errors C9orf21 195827 broad.mit.edu 36 9 98453761 98453761 + Splice_Site SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 98453761 98453761 C A SNP C9orf21 NM_153698 human genbank 54_36p -1 validated splice_site c.315+1 e3+1 1 - - - no_errors TSTD2 158427 broad.mit.edu 36 9 99404817 99404817 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 99404817 99404817 G C SNP C9orf97 NM_139246 human genbank 54_36p -1 validated missense c.1306 p.Q436E 0.02 NULL "superfamily_Rhodanese/Cell cycle control phosphatase,HMMPfam_Rhodanese,HMMSmart_SM00450" - no_errors TBC1D2 55357 broad.mit.edu 36 9 100046197 100046197 + Missense_Mutation SNP G G C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100046197 100046197 G C SNP TBC1D2 NM_018421 human genbank 54_36p -1 validated missense c.547 p.P183A 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC" - no_errors TBC1D2 55357 broad.mit.edu 36 9 100057643 100057643 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100057643 100057643 A G SNP TBC1D2 NM_018421 human genbank 54_36p -1 validated missense c.2 p.M1T 1 NULL "HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors GABBR2 9568 broad.mit.edu 36 9 100095912 100095912 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100095912 100095912 A G SNP GABBR2 NM_005458 human genbank 54_36p -1 validated missense c.2636 p.I879T 1 NULL "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors ANKS6 203286 broad.mit.edu 36 9 100570248 100570248 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100570248 100570248 G C SNP ANKS6 NM_173551 human genbank 54_36p -1 provisional missense c.2078 p.A693G 0.97 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors GALNT12 79695 broad.mit.edu 36 9 100625444 100625444 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100625444 100625444 C G SNP GALNT12 NM_024642 human genbank 54_36p 1 validated missense c.457 p.L153V 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors COL15A1 1306 broad.mit.edu 36 9 100787677 100787677 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100787677 100787677 C T SNP COL15A1 NM_001855 human genbank 54_36p 1 reviewed missense c.110 p.S37F 0.68 superfamily_ConA_like_lec_gl "superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_Endostatin" - no_errors COL15A1 1306 broad.mit.edu 36 9 100803013 100803013 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100803013 100803013 G A SNP COL15A1 NM_001855 human genbank 54_36p 1 reviewed missense c.1024 p.G342S 0.17 NULL "HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Endostatin,HMMPfam_Laminin_G_2,superfamily_C-type_lectin_fold" - no_errors COL15A1 1306 broad.mit.edu 36 9 100868987 100868987 + Silent SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100868987 100868987 G T SNP COL15A1 NM_001855 human genbank 54_36p 1 reviewed silent c.3654 p.L1218 1 "HMMPfam_Endostatin,superfamily_C-type_lectin_fold" "HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Endostatin,HMMPfam_Laminin_G_2,superfamily_C-type_lectin_fold" - no_errors COL15A1 1306 broad.mit.edu 36 9 100869130 100869130 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100869130 100869130 G T SNP COL15A1 NM_001855 human genbank 54_36p 1 reviewed missense c.3797 p.R1266M 1 "HMMPfam_Endostatin,superfamily_C-type_lectin_fold" "HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Endostatin,HMMPfam_Laminin_G_2,superfamily_C-type_lectin_fold" - no_errors TGFBR1 7046 broad.mit.edu 36 9 100940110 100940110 + Silent SNP G G T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 100940110 100940110 G T SNP TGFBR1 NM_004612 human genbank 54_36p 1 reviewed silent c.723 p.S241 0.92 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase" "superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ALG2 85365 broad.mit.edu 36 9 101020798 101020798 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 101020798 101020798 C A SNP ALG2 NM_033087 human genbank 54_36p -1 reviewed nonsense c.490 p.E164* 1 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_Glycos_transf_1" - no_errors NR4A3 8013 broad.mit.edu 36 9 101634829 101634829 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 101634829 101634829 C A SNP NR4A3 NM_173200 human genbank 54_36p 1 reviewed missense c.1022 p.A341E 1 "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716" "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors INVS 27130 broad.mit.edu 36 9 102054415 102054415 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 102054415 102054415 G T SNP INVS NM_014425 human genbank 54_36p 1 reviewed missense c.1108 p.V370F 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00015,HMMPfam_IQ" - no_errors INVS 27130 broad.mit.edu 36 9 102075166 102075167 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 102075166 102075167 GA TT DNP INVS NM_014425 human genbank 54_36p 1 reviewed missense c.1771_1772 p.D591F 1.000:1.000 NULL "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors BAAT 570 broad.mit.edu 36 9 103170223 103170224 + Frame_Shift_Ins INS - T - novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 - - T T - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 103170223 103170224 - T INS BAAT NM_001701 human genbank 54_36p -1 reviewed frame_shift_ins c.669_668 p.V224fs 1.000:1.000 "superfamily_SSF53474,HMMPfam_BAAT_C" "HMMPfam_Bile_Hydr_Trans,superfamily_SSF53474,HMMPfam_BAAT_C" - no_errors ZNF189 7743 broad.mit.edu 36 9 103210725 103210725 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 103210725 103210725 A G SNP ZNF189 NM_003452 human genbank 54_36p 1 validated missense c.854 p.E285G 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors C9orf125 84302 broad.mit.edu 36 9 103279181 103279181 + Silent SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 103279181 103279181 G A SNP C9orf125 NM_032342 human genbank 54_36p -1 predicted silent c.15 p.T5 0.02 NULL NULL - no_errors RNF20 56254 broad.mit.edu 36 9 103346886 103346886 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 103346886 103346886 G A SNP RNF20 NM_019592 human genbank 54_36p 1 reviewed silent c.645 p.E215 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors RNF20 56254 broad.mit.edu 36 9 103362966 103362966 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 103362966 103362966 C A SNP RNF20 NM_019592 human genbank 54_36p 1 reviewed missense c.2445 p.N815K 1 NULL "HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors GRIN3A 116443 broad.mit.edu 36 9 103472336 103472336 + Silent SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 103472336 103472336 A G SNP GRIN3A NM_133445 human genbank 54_36p -1 reviewed silent c.2179 p.L727 1 "superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan" "superfamily_SSF53822,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMSmart_PBPe,HMMPfam_Lig_chan" - no_errors SMC2 10592 broad.mit.edu 36 9 105898255 105898255 + Silent SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 105898255 105898255 G A SNP SMC2 NM_001042550 human genbank 54_36p 1 validated silent c.174 p.R58 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Smc hinge domain,HMMPfam_SMC_hinge,PatternScan_ABC_TRANSPORTER_1" - no_errors SMC2 10592 broad.mit.edu 36 9 105936623 105936623 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 105936623 105936623 T A SNP SMC2 NM_001042550 human genbank 54_36p 1 validated missense c.3215 p.V1072D 1 "HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors OR13F1 138805 broad.mit.edu 36 9 106307154 106307154 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 106307154 106307154 G A SNP OR13F1 NM_001004485 human genbank 54_36p 1 provisional missense c.790 p.A264T 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR13C8 138802 broad.mit.edu 36 9 106372007 106372007 + Silent SNP A A C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 106372007 106372007 A C SNP OR13C8 NM_001004483 human genbank 54_36p 1 provisional silent c.738 p.T246 0.1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR13C5 138799 broad.mit.edu 36 9 106400815 106400815 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 106400815 106400815 C A SNP OR13C5 NM_001004482 human genbank 54_36p -1 provisional missense c.701 p.R234I 0.04 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ABCA1 19 broad.mit.edu 36 9 106631078 106631078 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 106631078 106631078 C T SNP ABCA1 NM_005502 human genbank 54_36p -1 reviewed nonsense c.2055 p.W685* 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA1 19 broad.mit.edu 36 9 106634791 106634791 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 106634791 106634791 G A SNP ABCA1 NM_005502 human genbank 54_36p -1 reviewed missense c.1394 p.A465V 0 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA1 19 broad.mit.edu 36 9 106639096 106639096 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 106639096 106639096 T A SNP ABCA1 NM_005502 human genbank 54_36p -1 reviewed missense c.1297 p.M433L 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SLC44A1 23446 broad.mit.edu 36 9 107150529 107150529 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 107150529 107150529 G T SNP SLC44A1 NM_080546 human genbank 54_36p 1 validated missense c.476 p.C159F 1 NULL HMMPfam_DUF580 - no_errors ZNF462 58499 broad.mit.edu 36 9 108727368 108727368 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 108727368 108727368 C T SNP ZNF462 NM_021224 human genbank 54_36p 1 validated missense c.1354 p.R452C 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24" - no_errors ZNF462 58499 broad.mit.edu 36 9 108731020 108731020 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 108731020 108731020 G C SNP ZNF462 NM_021224 human genbank 54_36p 1 validated missense c.5006 p.C1669S 1 "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24" - no_errors IKBKAP 8518 broad.mit.edu 36 9 110691487 110691487 + Silent SNP C C G novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 9 110691487 110691487 C G SNP IKBKAP NM_003640 human genbank 54_36p -1 reviewed silent c.3168 p.L1056 0.57 NULL "HMMPfam_IKI3,superfamily_Amine_DH_B_like" - no_errors IKBKAP 8518 broad.mit.edu 36 9 110710486 110710486 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 110710486 110710486 G T SNP IKBKAP NM_003640 human genbank 54_36p -1 reviewed missense c.1380 p.D460E 1 HMMPfam_IKI3 "HMMPfam_IKI3,superfamily_Amine_DH_B_like" - no_errors CTNNAL1 8727 broad.mit.edu 36 9 110779092 110779092 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 9 110779092 110779092 T G SNP CTNNAL1 NM_003798 human genbank 54_36p -1 provisional missense c.1159 p.S387R 0.92 superfamily_alpha-catenin/vinculin "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" - no_errors EPB41L4B 54566 broad.mit.edu 36 9 111019214 111019214 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 111019214 111019214 G A SNP EPB41L4B NM_019114 human genbank 54_36p -1 validated missense c.1442 p.S481L 0.84 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA" - no_errors SVEP1 79987 broad.mit.edu 36 9 112316053 112316053 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 112316053 112316053 A C SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.1119 p.C373W 1 "superfamily_Growth factor receptor domain,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors LPAR1 1902 broad.mit.edu 36 9 112677753 112677753 + Silent SNP G G A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 112677753 112677753 G A SNP LPAR1 NM_001401 human genbank 54_36p -1 reviewed silent c.864 p.D288 0.98 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2K2 26248 broad.mit.edu 36 9 113129786 113129786 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 113129786 113129786 T A SNP OR2K2 NM_205859 human genbank 54_36p -1 provisional missense c.749 p.Y250F 0.06 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PTGR1 22949 broad.mit.edu 36 9 113385599 113385599 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 113385599 113385599 C G SNP PTGR1 NM_012212 human genbank 54_36p -1 provisional missense c.469 p.V157L 0.93 "superfamily_NAD(P)-bd,HMMPfam_ADH_zinc_N" "superfamily_GroES_like,superfamily_NAD(P)-bd,HMMPfam_ADH_zinc_N" - no_errors ROD1 9991 broad.mit.edu 36 9 114029723 114029723 + Missense_Mutation SNP T T G novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 114029723 114029723 T G SNP ROD1 NM_005156 human genbank 54_36p -1 validated missense c.1237 p.N413H 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ROD1 9991 broad.mit.edu 36 9 114030520 114030520 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 9 114030520 114030520 C G SNP ROD1 NM_005156 human genbank 54_36p -1 validated missense c.1192 p.A398P 1 "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors FKBP15 23307 broad.mit.edu 36 9 114989906 114989906 + Silent SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 114989906 114989906 G C SNP FKBP15 NM_015258 human genbank 54_36p -1 validated silent c.1371 p.A457 1 NULL "superfamily_FKBP-like,HMMPfam_FKBP_C" - no_errors PRPF4 9128 broad.mit.edu 36 9 115093655 115093655 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 9 115093655 115093655 T A SNP PRPF4 NM_004697 human genbank 54_36p 1 provisional missense c.1463 p.L488Q 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00500,HMMPfam_PRP4,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_PEROXIDASE_2,PatternScan_WD_REPEATS_1" - no_errors C9orf43 257169 broad.mit.edu 36 9 115215624 115215624 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 115215624 115215624 C G SNP C9orf43 NM_152786 human genbank 54_36p 1 predicted missense c.30 p.D10E 0.98 NULL NULL - no_errors RGS3 5998 broad.mit.edu 36 9 115264277 115264277 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 115264277 115264277 C T SNP RGS3 NM_144488 human genbank 54_36p 1 reviewed silent c.390 p.I130 0.08 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_PH domain-like,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors COL27A1 85301 broad.mit.edu 36 9 116013085 116013085 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116013085 116013085 C T SNP COL27A1 NM_032888 human genbank 54_36p 1 provisional silent c.2325 p.G775 0.25 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL27A1 85301 broad.mit.edu 36 9 116103804 116103804 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116103804 116103804 C T SNP COL27A1 NM_032888 human genbank 54_36p 1 provisional missense c.4831 p.R1611W 0.42 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors AKNA 80709 broad.mit.edu 36 9 116153002 116153002 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116153002 116153002 G C SNP AKNA NM_030767 human genbank 54_36p -1 validated missense c.3179 p.T1060R 0.01 NULL NULL - no_errors AKNA 80709 broad.mit.edu 36 9 116179165 116179165 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116179165 116179165 C T SNP AKNA NM_030767 human genbank 54_36p -1 validated missense c.743 p.G248D 0 NULL NULL - no_errors DFNB31 25861 broad.mit.edu 36 9 116204926 116204926 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116204926 116204926 C A SNP DFNB31 NM_015404 human genbank 54_36p -1 validated missense c.2653 p.A885S 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors DFNB31 25861 broad.mit.edu 36 9 116205413 116205413 + Silent SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 116205413 116205413 G A SNP DFNB31 NM_015404 human genbank 54_36p -1 validated silent c.2446 p.L816 0.7 "HMMPfam_PDZ,superfamily_PDZ domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors DFNB31 25861 broad.mit.edu 36 9 116226584 116226584 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116226584 116226584 G C SNP DFNB31 NM_015404 human genbank 54_36p -1 validated missense c.1267 p.R423G 0.06 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors DFNB31 25861 broad.mit.edu 36 9 116306424 116306424 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116306424 116306424 G C SNP DFNB31 NM_015404 human genbank 54_36p -1 validated missense c.479 p.S160W 1 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors TNC 3371 broad.mit.edu 36 9 116883940 116883940 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 116883940 116883940 T A SNP TNC NM_002160 human genbank 54_36p -1 validated missense c.2336 p.Y779F 1 "HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF,HMMPfam_EGF_2,HMMPfam_EGF,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C" - no_errors DEC1 50514 broad.mit.edu 36 9 117203399 117203399 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 117203399 117203399 C A SNP DEC1 NM_017418 human genbank 54_36p 1 validated missense c.194 p.A65E 0 NULL NULL - no_errors PAPPA 5069 broad.mit.edu 36 9 118104947 118104947 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 118104947 118104947 C G SNP PAPPA NM_002581 human genbank 54_36p 1 reviewed missense c.3044 p.T1015R 1 superfamily_SSF55486 "superfamily_ConA_like_lec_gl,HMMSmart_LamGL,superfamily_SSF55486,HMMPfam_Notch,HMMSmart_NL,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M43,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors PAPPA 5069 broad.mit.edu 36 9 118179697 118179697 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 9 118179697 118179697 C G SNP PAPPA NM_002581 human genbank 54_36p 1 reviewed missense c.4627 p.L1543V 1 superfamily_SSF55486 "HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_Notch,HMMSmart_NL,PatternScan_ZINC_PROTEASE,HMMSmart_LamGL,HMMPfam_Peptidase_M43,superfamily_ConA_like_lec_gl,superfamily_Complement_control_module,superfamily_SSF55486" - no_errors ASTN2 23245 broad.mit.edu 36 9 118289579 118289588 + Frame_Shift_Del DEL TCAGCAAAAC - TCAGCAAAAC novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D TCAGCAAAAC TCAGCAAAAC - - TCAGCAAAAC TCAGCAAAAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 118289579 118289588 TCAGCAAAAC - DEL ASTN2 NM_198187 human genbank 54_36p -1 validated frame_shift_del c.3377_3368 p.S1123fs 1.000:1.000:0.928:0.996:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_Fibronectin type III,HMMPfam_fn3" "superfamily_EGF/Laminin,HMMSmart_SM00457,superfamily_Fibronectin type III,HMMPfam_fn3" "(deletion:cds_exon[118289459,118289600])" no_errors ASTN2 23245 broad.mit.edu 36 9 119016679 119016679 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 119016679 119016679 C T SNP ASTN2 NM_198187 human genbank 54_36p -1 validated missense c.794 p.R265Q 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00457,superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors TLR4 7099 broad.mit.edu 36 9 119515072 119515072 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 9 119515072 119515072 A G SNP TLR4 NM_138554 human genbank 54_36p 1 reviewed missense c.845 p.N282S 0.07 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors TLR4 7099 broad.mit.edu 36 9 119516716 119516716 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 119516716 119516716 G A SNP TLR4 NM_138554 human genbank 54_36p 1 reviewed missense c.2489 p.G830E 0.01 NULL "HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like" - no_errors CDK5RAP2 55755 broad.mit.edu 36 9 122239479 122239479 + Silent SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 122239479 122239479 C G SNP CDK5RAP2 NM_018249 human genbank 54_36p -1 reviewed silent c.3870 p.V1290 1 NULL HMMPfam_Microtub_assoc - no_errors TRAF1 7185 broad.mit.edu 36 9 122728061 122728062 + Missense_Mutation DNP AC AC GT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 122728061 122728062 AC GT DNP TRAF1 NM_005658 human genbank 54_36p -1 reviewed missense c.114_113 p.C38Y 0.582:0.848 NULL "superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors C5 727 broad.mit.edu 36 9 122778907 122778907 + Silent SNP G G C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 122778907 122778907 G C SNP C5 NM_001735 human genbank 54_36p -1 reviewed silent c.3756 p.A1252 0.99 "superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp" ############################################################################################################################################################################################################################################################### - no_errors CEP110 11064 broad.mit.edu 36 9 122917284 122917284 + Silent SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 122917284 122917284 T C SNP CEP110 NM_007018 human genbank 54_36p 1 reviewed silent c.1440 p.A480 0.8 NULL "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_Prefoldin,superfamily_tRNA-binding arm" - no_errors CEP110 11064 broad.mit.edu 36 9 122917289 122917289 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 122917289 122917289 A C SNP CEP110 NM_007018 human genbank 54_36p 1 reviewed missense c.1445 p.Q482P 0.8 NULL "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_Prefoldin,superfamily_tRNA-binding arm,HMMSmart_SM00365,superfamily_L domain-like" - no_errors CEP110 11064 broad.mit.edu 36 9 122962300 122962300 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 122962300 122962300 T C SNP CEP110 NM_007018 human genbank 54_36p 1 reviewed missense c.4988 p.I1663T 0.99 NULL "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_Prefoldin,superfamily_tRNA-binding arm,HMMSmart_SM00365,superfamily_L domain-like" - no_errors MRRF 92399 broad.mit.edu 36 9 124115426 124115426 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124115426 124115426 C G SNP MRRF NM_138777 human genbank 54_36p 1 validated missense c.651 p.N217K 0.94 "superfamily_Ribosome recycling factor RRF,HMMPfam_RRF" "superfamily_Ribosome recycling factor RRF,HMMPfam_RRF" - no_errors OR1N2 138882 broad.mit.edu 36 9 124355988 124355988 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124355988 124355988 G T SNP OR1N2 NM_001004457 human genbank 54_36p 1 provisional missense c.719 p.W240L 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR1L8 138881 broad.mit.edu 36 9 124370150 124370150 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124370150 124370150 A G SNP OR1L8 NM_001004454 human genbank 54_36p -1 provisional missense c.428 p.V143A 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR1L8 138881 broad.mit.edu 36 9 124370412 124370412 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124370412 124370412 G C SNP OR1L8 NM_001004454 human genbank 54_36p -1 provisional missense c.166 p.L56V 0.79 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR1L1 26737 broad.mit.edu 36 9 124464064 124464064 + Silent SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124464064 124464064 G A SNP OR1L1 NM_001005236 human genbank 54_36p 1 validated silent c.399 p.V133 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR1K1 392392 broad.mit.edu 36 9 124602616 124602616 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124602616 124602616 C T SNP OR1K1 NM_080859 human genbank 54_36p 1 provisional missense c.394 p.P132S 0.99 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors RABGAP1 23637 broad.mit.edu 36 9 124786734 124786734 + Silent SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124786734 124786734 C G SNP RABGAP1 NM_012197 human genbank 54_36p 1 validated silent c.84 p.L28 0.53 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors GPR21 2844 broad.mit.edu 36 9 124837235 124837235 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 124837235 124837235 A G SNP GPR21 NM_005294 human genbank 54_36p 1 provisional missense c.569 p.Y190C 0.16 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CRB2 286204 broad.mit.edu 36 9 125172861 125172861 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 125172861 125172861 C T SNP CRB2 NM_173689 human genbank 54_36p 1 validated nonsense c.1708 p.Q570* 0.22 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" - no_errors NEK6 10783 broad.mit.edu 36 9 126149888 126149888 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 126149888 126149888 A G SNP NEK6 NM_014397 human genbank 54_36p 1 validated missense c.797 p.Y266C 1 "superfamily_Kinase_like,HMMPfam_Pkinase,HMMSmart_S_TKc" "superfamily_Kinase_like,HMMPfam_Pkinase,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors NR6A1 2649 broad.mit.edu 36 9 126356629 126356629 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 9 126356629 126356629 T A SNP NR6A1 NM_033334 human genbank 54_36p -1 reviewed missense c.184 p.I62F 1 "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors OLFML2A 169611 broad.mit.edu 36 9 126601561 126601561 + Silent SNP C C A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 126601561 126601561 C A SNP OLFML2A NM_182487 human genbank 54_36p 1 validated silent c.639 p.T213 0 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors PPP6C 5537 broad.mit.edu 36 9 126956018 126956018 + Silent SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 9 126956018 126956018 G A SNP PPP6C NM_002721 human genbank 54_36p -1 reviewed silent c.447 p.L149 1 "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos" "superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE" - no_errors HSPA5 3309 broad.mit.edu 36 9 127038734 127038734 + Silent SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 127038734 127038734 G A SNP HSPA5 NM_005347 human genbank 54_36p -1 validated silent c.1923 p.P641 1 superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain "superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" - no_errors HSPA5 3309 broad.mit.edu 36 9 127038923 127038923 + Silent SNP A A G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 127038923 127038923 A G SNP HSPA5 NM_005347 human genbank 54_36p -1 validated silent c.1734 p.D578 1 "HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" "HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain,superfamily_Actin-like ATPase domain" - no_errors HSPA5 3309 broad.mit.edu 36 9 127040367 127040367 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 127040367 127040367 T A SNP HSPA5 NM_005347 human genbank 54_36p -1 validated missense c.1276 p.I426F 1 "HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain" "HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain,superfamily_Actin-like ATPase domain" - no_errors MAPKAP1 79109 broad.mit.edu 36 9 127474433 127474433 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 127474433 127474433 C G SNP MAPKAP1 NM_001006617 human genbank 54_36p -1 reviewed missense c.242 p.R81T 1 HMMPfam_SIN1 "HMMPfam_SIN1,PatternScan_LECTIN_LEGUME_BETA" - no_errors LMX1B 4010 broad.mit.edu 36 9 128495363 128495363 + Silent SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 128495363 128495363 C A SNP LMX1B NM_002316 human genbank 54_36p 1 validated silent c.612 p.T204 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZBTB34 403341 broad.mit.edu 36 9 128681958 128681958 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 128681958 128681958 C A SNP ZBTB34 NM_001099270 human genbank 54_36p 1 validated missense c.447 p.N149K 0.96 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF79 7633 broad.mit.edu 36 9 129238088 129238088 + Nonsense_Mutation SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129238088 129238088 C T SNP ZNF79 NM_007135 human genbank 54_36p 1 validated nonsense c.313 p.R105* 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF79 7633 broad.mit.edu 36 9 129246967 129246967 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129246967 129246967 C T SNP ZNF79 NM_007135 human genbank 54_36p 1 validated silent c.1167 p.Y389 0.65 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors TTC16 158248 broad.mit.edu 36 9 129522388 129522389 + Frame_Shift_Ins INS - G - novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 129522388 129522389 - G INS TTC16 NM_144965 human genbank 54_36p 1 provisional frame_shift_ins c.550_551 p.K184fs 0.104:0.062 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors TTC16 158248 broad.mit.edu 36 9 129529464 129529464 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129529464 129529464 C G SNP TTC16 NM_144965 human genbank 54_36p 1 provisional missense c.1663 p.L555V 0 NULL "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors TTC16 158248 broad.mit.edu 36 9 129532747 129532747 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129532747 129532747 G A SNP TTC16 NM_144965 human genbank 54_36p 1 provisional missense c.1864 p.G622S 0 NULL "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors SH2D3C 10044 broad.mit.edu 36 9 129551356 129551356 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 129551356 129551356 C A SNP SH2D3C NM_170600 human genbank 54_36p -1 validated missense c.1094 p.G365V 1 NULL "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Ras GEF,HMMSmart_SM00147" - no_errors FPGS 2356 broad.mit.edu 36 9 129609159 129609159 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129609159 129609159 G A SNP FPGS NM_004957 human genbank 54_36p 1 reviewed missense c.473 p.R158H 0.99 superfamily_MurD-like peptide ligases catalytic domain "superfamily_MurD-like peptide ligases catalytic domain,PatternScan_FOLYLPOLYGLU_SYNT_1,PatternScan_FOLYLPOLYGLU_SYNT_2,HMMPfam_Mur_ligase_C,superfamily_MurD-like peptide ligases peptide-binding domain" - no_errors ENG 2022 broad.mit.edu 36 9 129627395 129627395 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129627395 129627395 A G SNP ENG NM_000118 human genbank 54_36p -1 reviewed missense c.752 p.L251P 0.98 NULL HMMPfam_Zona_pellucida - no_errors FAM102A 399665 broad.mit.edu 36 9 129746965 129746965 + Silent SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129746965 129746965 G A SNP FAM102A NM_001035254 human genbank 54_36p -1 validated silent c.951 p.T317 1 NULL HMMPfam_Eeig1 - no_errors FAM102A 399665 broad.mit.edu 36 9 129747626 129747626 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129747626 129747626 G A SNP FAM102A NM_001035254 human genbank 54_36p -1 validated missense c.758 p.S253L 1 NULL HMMPfam_Eeig1 - no_errors FAM102A 399665 broad.mit.edu 36 9 129750189 129750190 + Missense_Mutation DNP GC GC AG novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129750189 129750190 GC AG DNP FAM102A NM_001035254 human genbank 54_36p -1 validated missense c.598_597 p.P200S 1.000:0.991 NULL HMMPfam_Eeig1 - no_errors C9orf16 79095 broad.mit.edu 36 9 129965712 129965712 + Silent SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 129965712 129965712 C G SNP C9orf16 NM_024112 human genbank 54_36p 1 validated silent c.249 p.P83 0.41 HMMPfam_UPF0184 HMMPfam_UPF0184 - no_errors TRUB2 26995 broad.mit.edu 36 9 130111720 130111720 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 130111720 130111720 C T SNP TRUB2 NM_015679 human genbank 54_36p -1 provisional missense c.926 p.S309N 0 NULL "superfamily_PsdUridine_synth_cat_dom,HMMPfam_TruB_N" - no_errors SLC27A4 10999 broad.mit.edu 36 9 130162578 130162578 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130162578 130162578 A G SNP SLC27A4 NM_005094 human genbank 54_36p 1 provisional missense c.1919 p.E640G 0.9 NULL "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_LIPOCALIN,PatternScan_AMP_BINDING" - no_errors CERCAM 51148 broad.mit.edu 36 9 130237816 130237816 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130237816 130237816 C T SNP CERCAM ENST00000360536 human ensembl 54_36p 1 known missense c.460 p.R154C 0.07 HMMPfam_Glyco_transf_25 HMMPfam_Glyco_transf_25 - no_errors ODF2 4957 broad.mit.edu 36 9 130273486 130273486 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 130273486 130273486 C G SNP ODF2 NM_002540 human genbank 54_36p 1 reviewed missense c.427 p.H143D 0.88 NULL NULL - no_errors SPTAN1 6709 broad.mit.edu 36 9 130368968 130368968 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 130368968 130368968 C T SNP SPTAN1 NM_003127 human genbank 54_36p 1 validated missense c.128 p.S43F 1 superfamily_Spectrin repeat "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_efhand_Ca_insen" - no_errors SPTAN1 6709 broad.mit.edu 36 9 130400554 130400554 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 130400554 130400554 C G SNP SPTAN1 NM_003127 human genbank 54_36p 1 validated missense c.3469 p.L1157V 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMSmart_SM00054,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors SPTAN1 6709 broad.mit.edu 36 9 130426519 130426519 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 130426519 130426519 C T SNP SPTAN1 NM_003127 human genbank 54_36p 1 validated missense c.5909 p.A1970V 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMSmart_SM00054,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors SPTAN1 6709 broad.mit.edu 36 9 130428779 130428779 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130428779 130428779 A G SNP SPTAN1 NM_003127 human genbank 54_36p 1 validated missense c.6553 p.I2185V 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMSmart_SM00054,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors ZDHHC12 84885 broad.mit.edu 36 9 130526129 130526129 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130526129 130526129 C T SNP ZDHHC12 NM_032799 human genbank 54_36p -1 validated nonsense c.65 p.W22* 1 NULL HMMPfam_zf-DHHC - no_errors C9orf114 51490 broad.mit.edu 36 9 130629169 130629169 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130629169 130629169 C T SNP C9orf114 NM_016390 human genbank 54_36p -1 validated missense c.331 p.E111K 1 "superfamily_SSF75217,HMMPfam_DUF171" "superfamily_SSF75217,HMMPfam_DUF171,superfamily_Nucleic_acid_OB" - no_errors CCBL1 883 broad.mit.edu 36 9 130639832 130639832 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 130639832 130639832 G A SNP CCBL1 NM_004059 human genbank 54_36p -1 reviewed missense c.520 p.R174C 0.83 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" - no_errors LRRC8A 56262 broad.mit.edu 36 9 130710429 130710429 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130710429 130710429 C G SNP LRRC8A NM_019594 human genbank 54_36p 1 reviewed missense c.1165 p.R389G 1 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1" - no_errors DOLK 22845 broad.mit.edu 36 9 130748299 130748299 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 9 130748299 130748299 C A SNP DOLK NM_014908 human genbank 54_36p -1 validated missense c.1105 p.V369F 0.97 NULL NULL - no_errors NUP188 23511 broad.mit.edu 36 9 130782721 130782721 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130782721 130782721 C G SNP NUP188 NM_015354 human genbank 54_36p 1 validated missense c.1285 p.L429V 0.99 HMMPfam_Nup188 HMMPfam_Nup188 - no_errors NUP188 23511 broad.mit.edu 36 9 130808641 130808642 + Missense_Mutation DNP GG GG AA novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130808641 130808642 GG AA DNP NUP188 NM_015354 human genbank 54_36p 1 validated missense c.5113_5114 p.G1705K 1.000:1.000 NULL HMMPfam_Nup188 - no_errors SH3GLB2 56904 broad.mit.edu 36 9 130816948 130816948 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 130816948 130816948 C A SNP SH3GLB2 NM_020145 human genbank 54_36p -1 provisional missense c.391 p.D131Y 1 "HMMSmart_SM00721,HMMPfam_BAR" "HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors C9orf106 414318 broad.mit.edu 36 9 131124423 131124423 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 131124423 131124423 C T SNP C9orf106 NM_001012715 human genbank 54_36p 1 validated silent c.510 p.L170 0 NULL NULL - no_errors TOR1A 1861 broad.mit.edu 36 9 131620928 131620928 + Silent SNP G G A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 131620928 131620928 G A SNP TOR1A NM_000113 human genbank 54_36p -1 reviewed silent c.537 p.L179 1 "HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors C9orf78 51759 broad.mit.edu 36 9 131637305 131637305 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 131637305 131637305 T G SNP C9orf78 NM_016520 human genbank 54_36p -1 validated missense c.17 p.K6T 0.98 NULL HMMPfam_Hep_59 - no_errors USP20 10868 broad.mit.edu 36 9 131671877 131671877 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 131671877 131671877 C T SNP USP20 NM_001008563 human genbank 54_36p 1 validated missense c.1498 p.P500S 1 "superfamily_SSF54001,HMMPfam_UCH" "HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_DUSP" - no_errors FUBP3 8939 broad.mit.edu 36 9 132495968 132495968 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 132495968 132495968 C A SNP FUBP3 NM_003934 human genbank 54_36p 1 validated missense c.1250 p.A417D 1 "superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" "superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" - no_errors FUBP3 8939 broad.mit.edu 36 9 132501298 132501298 + Silent SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 132501298 132501298 C T SNP FUBP3 NM_003934 human genbank 54_36p 1 validated silent c.1674 p.Y558 1 NULL "HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors PRDM12 59335 broad.mit.edu 36 9 132531972 132531972 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 132531972 132531972 T G SNP PRDM12 NM_021619 human genbank 54_36p 1 validated missense c.380 p.V127G 1 "superfamily_SET domain,HMMSmart_SM00317" "superfamily_SET domain,HMMSmart_SM00317,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ABL1 25 broad.mit.edu 36 9 132720016 132720016 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 132720016 132720016 G C SNP ABL1 NM_007313 human genbank 54_36p 1 reviewed missense c.318 p.K106N 1 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" ############################################################################################################################################################################################################################################################### - no_errors LAMC3 10319 broad.mit.edu 36 9 132926412 132926413 + Missense_Mutation DNP CT CT GA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 132926412 132926413 CT GA DNP LAMC3 NM_006059 human genbank 54_36p 1 reviewed missense c.2328_2329 p.HC776QS 1.000:1.000 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1" "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2" - no_errors LAMC3 10319 broad.mit.edu 36 9 132944454 132944454 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 132944454 132944454 C A SNP LAMC3 NM_006059 human genbank 54_36p 1 reviewed missense c.3875 p.T1292N 0 NULL "HMMPfam_Laminin_B,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196" - no_errors NUP214 8021 broad.mit.edu 36 9 133098694 133098694 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 133098694 133098694 G A SNP NUP214 NM_005085 human genbank 54_36p 1 reviewed silent c.6272 p.*2091 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320" - no_errors BAT2L1 84726 broad.mit.edu 36 9 133297870 133297870 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 133297870 133297870 C A SNP BAT2L NM_013318 human genbank 54_36p 1 validated missense c.161 p.A54D 1 HMMPfam_BAT2_N HMMPfam_BAT2_N - no_errors NTNG2 84628 broad.mit.edu 36 9 134063273 134063273 + Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 134063273 134063273 A C SNP NTNG2 NM_032536 human genbank 54_36p 1 validated missense c.313 p.T105P 1 "HMMSmart_SM00136,HMMPfam_Laminin_N" "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2" - no_errors TTF1 7270 broad.mit.edu 36 9 134253418 134253418 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 134253418 134253418 C A SNP TTF1 NM_007344 human genbank 54_36p -1 validated missense c.2241 p.K747N 1 HMMSmart_SANT "HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors GTF3C4 9329 broad.mit.edu 36 9 134543966 134543966 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 134543966 134543966 A G SNP GTF3C4 NM_012204 human genbank 54_36p 1 validated missense c.1139 p.Y380C 0.76 NULL NULL - no_errors TSC1 7248 broad.mit.edu 36 9 134766887 134766888 + Missense_Mutation DNP CC CC TG novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 134766887 134766888 CC TG DNP TSC1 NM_000368 human genbank 54_36p -1 validated missense c.2412_2411 p.R804T 0.999:1.000 NULL HMMPfam_Hamartin - no_errors TSC1 7248 broad.mit.edu 36 9 134767960 134767960 + Silent SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 134767960 134767960 C T SNP TSC1 NM_000368 human genbank 54_36p -1 validated silent c.2244 p.Q748 1 NULL HMMPfam_Hamartin - no_errors TSC1 7248 broad.mit.edu 36 9 134768895 134768905 + Frame_Shift_Del DEL GATCACCTTGC - GATCACCTTGC novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 GATCACCTTGC GATCACCTTGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 9 134768895 134768905 GATCACCTTGC - DEL TSC1 NM_000368 human genbank 54_36p -1 validated frame_shift_del c.2172_2162 p.R721fs 0.997:1.000:1.000:1.000:1.000:1.000:0.998:0.997:0.993:0.954:1.000 NULL HMMPfam_Hamartin "(deletion:cds_exon[134768859,134769025])" no_errors SURF6 6838 broad.mit.edu 36 9 135189382 135189382 + Silent SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 135189382 135189382 C T SNP SURF6 NM_006753 human genbank 54_36p -1 reviewed silent c.429 p.E143 1 HMMPfam_SURF6 HMMPfam_SURF6 - no_errors MED22 6837 broad.mit.edu 36 9 135200886 135200886 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 135200886 135200886 C T SNP MED22 NM_133640 human genbank 54_36p -1 reviewed missense c.328 p.E110K 1 HMMPfam_SURF5 HMMPfam_SURF5 - no_errors SURF1 6834 broad.mit.edu 36 9 135208748 135208748 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135208748 135208748 G T SNP SURF1 NM_003172 human genbank 54_36p -1 reviewed nonsense c.822 p.Y274* 1 HMMPfam_SURF1 HMMPfam_SURF1 - no_errors SURF1 6834 broad.mit.edu 36 9 135208769 135208769 + Silent SNP C C G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135208769 135208769 C G SNP SURF1 NM_003172 human genbank 54_36p -1 reviewed silent c.801 p.L267 1 HMMPfam_SURF1 HMMPfam_SURF1 - no_errors REXO4 57109 broad.mit.edu 36 9 135272783 135272783 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135272783 135272783 C G SNP REXO4 NM_020385 human genbank 54_36p -1 validated missense c.3 p.M1I 0.19 NULL "superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T" - no_errors ADAMTS13 11093 broad.mit.edu 36 9 135293271 135293271 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 135293271 135293271 C T SNP ADAMTS13 NM_139025 human genbank 54_36p 1 reviewed missense c.1669 p.P557S 0.01 NULL "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Spermadhesin CUB domain" - no_errors C9orf7 11094 broad.mit.edu 36 9 135322963 135322963 + Silent SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135322963 135322963 G T SNP C9orf7 NM_017586 human genbank 54_36p 1 validated silent c.420 p.L140 1 HMMPfam_Cg6151-P HMMPfam_Cg6151-P - no_errors ADAMTSL2 9719 broad.mit.edu 36 9 135402129 135402129 + Silent SNP G G T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 135402129 135402129 G T SNP ADAMTSL2 NM_014694 human genbank 54_36p 1 reviewed silent c.912 p.G304 0.98 HMMPfam_ADAM_spacer1 "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors DBH 1621 broad.mit.edu 36 9 135491549 135491549 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135491549 135491549 C T SNP DBH NM_000787 human genbank 54_36p 1 reviewed missense c.235 p.R79W 0.03 "HMMSmart_DoH,HMMPfam_DOMON" "HMMSmart_DoH,HMMPfam_DOMON,superfamily_PHM_PNGase_F,HMMPfam_Cu2_monooxygen,PatternScan_CU2_MONOOXYGENASE_1,HMMPfam_Cu2_monoox_C,PatternScan_CU2_MONOOXYGENASE_2" - no_errors DBH 1621 broad.mit.edu 36 9 135502794 135502794 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135502794 135502794 A C SNP DBH NM_000787 human genbank 54_36p 1 reviewed missense c.1030 p.N344H 0.01 "HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F" "HMMPfam_Cu2_monooxygen,PatternScan_CU2_MONOOXYGENASE_1,HMMSmart_DoH,superfamily_PHM_PNGase_F,HMMPfam_DOMON,HMMPfam_Cu2_monoox_C,PatternScan_CU2_MONOOXYGENASE_2" - no_errors VAV2 7410 broad.mit.edu 36 9 135646794 135646794 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135646794 135646794 T G SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.1105 p.N369H 1 "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF" ############################################################################################################################################################################################################################################################### - no_errors VAV2 7410 broad.mit.edu 36 9 135667107 135667107 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135667107 135667107 C G SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.502 p.G168R 1 superfamily_Calponin-homology ############################################################################################################################################################################################################################################################### - no_errors BRD3 8019 broad.mit.edu 36 9 135907364 135907364 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 135907364 135907364 T C SNP BRD3 NM_007371 human genbank 54_36p -1 reviewed missense c.236 p.N79S 1 "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors RXRA 6256 broad.mit.edu 36 9 136465823 136465823 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 136465823 136465823 A G SNP RXRA NM_002957 human genbank 54_36p 1 reviewed missense c.1190 p.Y397C 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors COL5A1 1289 broad.mit.edu 36 9 136799012 136799012 + Silent SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 9 136799012 136799012 A T SNP COL5A1 NM_000093 human genbank 54_36p 1 reviewed silent c.2223 p.P741 1 HMMPfam_Collagen "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI" - no_errors COL5A1 1289 broad.mit.edu 36 9 136856317 136856317 + Silent SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 136856317 136856317 G A SNP COL5A1 NM_000093 human genbank 54_36p 1 reviewed silent c.4749 p.T1583 0.98 NULL "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors COL5A1 1289 broad.mit.edu 36 9 136857473 136857473 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 9 136857473 136857473 G A SNP COL5A1 NM_000093 human genbank 54_36p 1 reviewed missense c.4969 p.D1657N 1 "HMMPfam_COLFI,HMMSmart_COLFI" "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors FCN2 2220 broad.mit.edu 36 9 136918991 136918991 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 136918991 136918991 A G SNP FCN2 NM_004108 human genbank 54_36p 1 reviewed missense c.851 p.H284R 0 "HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" "HMMPfam_Collagen,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors FCN1 2219 broad.mit.edu 36 9 136949470 136949470 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 136949470 136949470 C G SNP FCN1 NM_002003 human genbank 54_36p -1 reviewed missense c.69 p.K23N 0 NULL "HMMPfam_Collagen,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like,PatternScan_LIPOCALIN,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors KIAA0649 9858 broad.mit.edu 36 9 137516351 137516351 + Silent SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 137516351 137516351 G T SNP KIAA0649 NM_014811 human genbank 54_36p 1 validated silent c.174 p.G58 0.24 NULL NULL - no_errors KIAA0649 9858 broad.mit.edu 36 9 137518017 137518017 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 137518017 137518017 G C SNP KIAA0649 NM_014811 human genbank 54_36p 1 validated missense c.1840 p.V614L 0 NULL NULL - no_errors C9orf116 138162 broad.mit.edu 36 9 137527258 137527258 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 137527258 137527258 T C SNP C9orf116 NM_001048265 human genbank 54_36p -1 validated missense c.247 p.K83E 0.02 NULL NULL - no_errors CAMSAP1 157922 broad.mit.edu 36 9 137843003 137843003 + Silent SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 137843003 137843003 C A SNP CAMSAP1 NM_015447 human genbank 54_36p -1 validated silent c.3948 p.V1316 0.99 superfamily_PRC-barrel domain "superfamily_PRC-barrel domain,HMMPfam_DUF1781" - no_errors CAMSAP1 157922 broad.mit.edu 36 9 137853528 137853528 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 137853528 137853528 G A SNP CAMSAP1 NM_015447 human genbank 54_36p -1 validated missense c.1966 p.H656Y 0.01 NULL "superfamily_PRC-barrel domain,HMMPfam_DUF1781" - no_errors CAMSAP1 157922 broad.mit.edu 36 9 137853823 137853823 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 137853823 137853823 G C SNP CAMSAP1 NM_015447 human genbank 54_36p -1 validated missense c.1671 p.S557R 1 NULL "superfamily_PRC-barrel domain,HMMPfam_DUF1781" - no_errors QSOX2 169714 broad.mit.edu 36 9 138240870 138240870 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138240870 138240870 T C SNP QSOX2 NM_181701 human genbank 54_36p -1 validated missense c.1622 p.E541G 0.9 NULL "superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,superfamily_Evr1_Alr,HMMPfam_Evr1_Alr" - no_errors QSOX2 169714 broad.mit.edu 36 9 138277253 138277253 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138277253 138277253 C T SNP QSOX2 NM_181701 human genbank 54_36p -1 validated missense c.218 p.G73E 0.95 superfamily_Thiordxn-like_fd "HMMPfam_Evr1_Alr,superfamily_Evr1_Alr,superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin" - no_errors PMPCA 23203 broad.mit.edu 36 9 138428909 138428909 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138428909 138428909 C T SNP PMPCA NM_015160 human genbank 54_36p 1 provisional missense c.521 p.P174L 1 "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16" "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C" - no_errors PMPCA 23203 broad.mit.edu 36 9 138431397 138431397 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138431397 138431397 G C SNP PMPCA NM_015160 human genbank 54_36p 1 provisional missense c.807 p.K269N 1 "HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase" "PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16" - no_errors SEC16A 9919 broad.mit.edu 36 9 138461944 138461944 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138461944 138461944 G A SNP SEC16A NM_014866 human genbank 54_36p -1 validated missense c.6457 p.P2153S 0.99 NULL NULL - no_errors SEC16A 9919 broad.mit.edu 36 9 138462402 138462402 + Silent SNP T T G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138462402 138462402 T G SNP SEC16A NM_014866 human genbank 54_36p -1 validated silent c.6345 p.G2115 0.49 NULL NULL - no_errors SEC16A 9919 broad.mit.edu 36 9 138489835 138489835 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138489835 138489835 G A SNP SEC16A NM_014866 human genbank 54_36p -1 validated missense c.2054 p.A685V 0 NULL NULL - no_errors NOTCH1 4851 broad.mit.edu 36 9 138511033 138511033 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138511033 138511033 G A SNP NOTCH1 NM_017617 human genbank 54_36p -1 reviewed missense c.6979 p.R2327W 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH1 4851 broad.mit.edu 36 9 138516325 138516325 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture ManualReview Illumina GAIIx 9 138516325 138516325 G A SNP NOTCH1 NM_017617 human genbank 54_36p -1 reviewed silent c.5421 p.D1807 0.95 NULL ############################################################################################################################################################################################################################################################### - no_errors EGFL7 51162 broad.mit.edu 36 9 138686547 138686547 + Silent SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 138686547 138686547 G A SNP EGFL7 NM_016215 human genbank 54_36p 1 validated silent c.810 p.K270 0.98 NULL "HMMPfam_EMI,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL" - no_errors PTGDS 5730 broad.mit.edu 36 9 138994271 138994271 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 138994271 138994271 C A SNP PTGDS NM_000954 human genbank 54_36p 1 reviewed nonsense c.384 p.Y128* 0.15 "superfamily_Lipocalins,HMMPfam_Lipocalin" "superfamily_Lipocalins,PatternScan_LIPOCALIN,HMMPfam_Lipocalin" - no_errors FUT7 2529 broad.mit.edu 36 9 139045318 139045319 + Frame_Shift_Del DEL GA - - novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139045318 139045319 GA - DEL FUT7 NM_004479 human genbank 54_36p -1 reviewed frame_shift_del c.694_693 p.Q232fs 0.944:0.862 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 "(deletion:cds_exon[139044983,139045998])" no_errors MAN1B1 11253 broad.mit.edu 36 9 139103163 139103163 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139103163 139103163 A T SNP MAN1B1 NM_016219 human genbank 54_36p 1 validated missense c.350 p.E117V 0.9 NULL "superfamily_Glyco_hydro_47,HMMPfam_Glyco_hydro_47" - no_errors DPP7 29952 broad.mit.edu 36 9 139127677 139127677 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139127677 139127677 G A SNP DPP7 NM_013379 human genbank 54_36p -1 reviewed missense c.578 p.A193V 0.89 "HMMPfam_Peptidase_S28,superfamily_SSF53474" "HMMPfam_Peptidase_S28,superfamily_SSF53474" - no_errors ANAPC2 29882 broad.mit.edu 36 9 139194469 139194469 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 139194469 139194469 C A SNP ANAPC2 NM_013366 human genbank 54_36p -1 reviewed missense c.1875 p.K625N 1 "HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182" "HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_Winged helix DNA-binding domain,HMMPfam_APC2" - no_errors SLC34A3 142680 broad.mit.edu 36 9 139246415 139246415 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139246415 139246415 C A SNP SLC34A3 NM_080877 human genbank 54_36p 1 validated missense c.156 p.D52E 0.03 NULL HMMPfam_Na_Pi_cotrans - no_errors TUBB2C 10383 broad.mit.edu 36 9 139257542 139257542 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139257542 139257542 A T SNP TUBB2C NM_006088 human genbank 54_36p 1 validated missense c.1051 p.T351S 1 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBB2C 10383 broad.mit.edu 36 9 139257713 139257713 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 139257713 139257713 T A SNP TUBB2C NM_006088 human genbank 54_36p 1 validated missense c.1222 p.F408I 1 superfamily_Tubulin C-terminal domain-like "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN_B_AUTOREG,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors FAM166A 401565 broad.mit.edu 36 9 139258058 139258058 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 139258058 139258058 A T SNP FAM166A NM_001001710 human genbank 54_36p -1 predicted missense c.869 p.M290K 0.9 NULL HMMPfam_DUF2475 - no_errors FAM166A 401565 broad.mit.edu 36 9 139259684 139259684 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139259684 139259684 G C SNP FAM166A NM_001001710 human genbank 54_36p -1 predicted missense c.418 p.P140A 0.97 NULL HMMPfam_DUF2475 - no_errors C9orf167 54863 broad.mit.edu 36 9 139292970 139292970 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139292970 139292970 G A SNP C9orf167 NM_017723 human genbank 54_36p 1 validated missense c.8 p.R3H 0.86 NULL "HMMPfam_Torsin,superfamily_SSF52540,HMMSmart_AAA" - no_errors EHMT1 79813 broad.mit.edu 36 9 139791040 139791040 + Silent SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 139791040 139791040 C T SNP EHMT1 NM_024757 human genbank 54_36p 1 reviewed silent c.1848 p.T616 0.69 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SM00317" - no_errors CACNA1B 774 broad.mit.edu 36 9 140074012 140074012 + Splice_Site SNP T T A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 140074012 140074012 T A SNP CACNA1B NM_000718 human genbank 54_36p 1 validated splice_site c.4668+2 e31+2 1 - - - no_errors TUBB8 347688 broad.mit.edu 36 10 83410 83410 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 83410 83410 C A SNP TUBB8 NM_177987 human genbank 54_36p -1 provisional missense c.922 p.G308C 1 "superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" - no_errors DIP2C 22982 broad.mit.edu 36 10 426258 426258 + Silent SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 10 426258 426258 G C SNP DIP2C NM_014974 human genbank 54_36p -1 reviewed silent c.1440 p.P480 0.99 "HMMPfam_AMP-binding,superfamily_SSF56801" "HMMPfam_AMP-binding,HMMPfam_DMAP_binding,PatternScan_AMP_BINDING,superfamily_SSF56801" - no_errors LARP4B 23185 broad.mit.edu 36 10 861158 861158 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 861158 861158 C T SNP LARP5 NM_015155 human genbank 54_36p -1 provisional missense c.1331 p.R444Q 0.99 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" - no_errors GTPBP4 23560 broad.mit.edu 36 10 1036802 1036802 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 1036802 1036802 C T SNP GTPBP4 NM_012341 human genbank 54_36p 1 reviewed silent c.840 p.I280 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NOG1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NOG1,HMMPfam_NOGCT" - no_errors PFKP 5214 broad.mit.edu 36 10 3164604 3164604 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 3164604 3164604 G C SNP PFKP NM_002627 human genbank 54_36p 1 validated missense c.1881 p.K627N 1 "superfamily_Phosphofructokinase,HMMPfam_PFK" "HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE" - no_errors AKR1C1 1645 broad.mit.edu 36 10 4998131 4998131 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 4998131 4998131 C A SNP AKR1C1 NM_001353 human genbank 54_36p 1 reviewed missense c.110 p.A37D 0.98 "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors AKR1C1 1645 broad.mit.edu 36 10 4998151 4998151 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 4998151 4998151 G A SNP AKR1C1 NM_001353 human genbank 54_36p 1 reviewed missense c.130 p.A44T 0 "HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red" "HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3,PatternScan_ALDOKETO_REDUCTASE_1" - no_errors CALML5 51806 broad.mit.edu 36 10 5531328 5531328 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 5531328 5531328 T C SNP CALML5 NM_017422 human genbank 54_36p -1 reviewed missense c.74 p.N25S 0.93 "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors ASB13 79754 broad.mit.edu 36 10 5723803 5723803 + Silent SNP C C A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 5723803 5723803 C A SNP ASB13 NM_024701 human genbank 54_36p -1 reviewed silent c.645 p.G215 0.99 superfamily_Ankyrin repeat "HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_SOCS_box" - no_errors C10orf18 54906 broad.mit.edu 36 10 5829069 5829069 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 5829069 5829069 G A SNP C10orf18 NM_017782 human genbank 54_36p 1 validated missense c.3679 p.G1227R 0 NULL NULL - no_errors C10orf18 54906 broad.mit.edu 36 10 5830331 5830331 + Silent SNP A A C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 5830331 5830331 A C SNP C10orf18 NM_017782 human genbank 54_36p 1 validated silent c.4941 p.T1647 0 NULL NULL - no_errors FBXO18 84893 broad.mit.edu 36 10 6018425 6018425 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 6018425 6018425 G C SNP FBXO18 NM_032807 human genbank 54_36p 1 reviewed missense c.2983 p.E995Q 1 superfamily_SSF52540 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52540" - no_errors IL2RA 3559 broad.mit.edu 36 10 6103503 6103503 + Missense_Mutation SNP C C T rs55841382 Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 6103503 6103503 C T SNP IL2RA NM_000417 human genbank 54_36p -1 reviewed missense c.527 p.R176K 0.01 "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" "HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module" - no_errors PFKFB3 5209 broad.mit.edu 36 10 6301558 6301558 + Silent SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 6301558 6301558 G A SNP PFKFB3 NM_004566 human genbank 54_36p 1 validated silent c.519 p.P173 0.89 "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like,PatternScan_PG_MUTASE" - no_errors PFKFB3 5209 broad.mit.edu 36 10 6302685 6302685 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 6302685 6302685 C T SNP PFKFB3 NM_004566 human genbank 54_36p 1 validated nonsense c.682 p.Q228* 1 "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases" "PatternScan_PG_MUTASE,HMMPfam_PGAM,HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Phosphoglycerate mutase-like" - no_errors PRKCQ 5588 broad.mit.edu 36 10 6510308 6510308 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 6510308 6510308 T C SNP PRKCQ NM_006257 human genbank 54_36p -1 reviewed missense c.1988 p.N663S 1 "HMMSmart_SM00133,HMMPfam_Pkinase_C" ############################################################################################################################################################################################################################################################### - no_errors PRKCQ 5588 broad.mit.edu 36 10 6544284 6544284 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 6544284 6544284 C A SNP PRKCQ NM_006257 human genbank 54_36p -1 reviewed nonsense c.1495 p.G499* 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PRKCQ 5588 broad.mit.edu 36 10 6565544 6565562 + Frame_Shift_Del DEL GACTCCCAGGAAATGCCCT - GACTCCCAGGAAATGCCCT novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D GACTCCCAGGAAATGCCCT GACTCCCAGGAAATGCCCT - - GACTCCCAGGAAATGCCCT GACTCCCAGGAAATGCCCT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 6565544 6565562 GACTCCCAGGAAATGCCCT - DEL PRKCQ NM_006257 human genbank 54_36p -1 reviewed frame_shift_del c.1043_1025 p.Q342fs 0.994:0.992:0.990:1.000:1.000:1.000:1.000:1.000:0.991:0.999:0.991:0.866:0.898:0.814:0.609:0.992:0.998:0.996:0.999 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[6565408,6565568])" no_errors SFMBT2 57713 broad.mit.edu 36 10 7279552 7279552 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 7279552 7279552 C T SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional silent c.1662 p.S554 0.65 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors SFMBT2 57713 broad.mit.edu 36 10 7449840 7449840 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 7449840 7449840 C G SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional missense c.213 p.Q71H 1 "HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" "HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,superfamily_Tudor/PWWP/MBT" - no_errors SFMBT2 57713 broad.mit.edu 36 10 7452280 7452280 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 7452280 7452280 G A SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional missense c.164 p.A55V 0.21 "HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" "HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,superfamily_Tudor/PWWP/MBT" - no_errors ITIH5 80760 broad.mit.edu 36 10 7658806 7658806 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 7658806 7658806 C G SNP ITIH5 NM_030569 human genbank 54_36p -1 validated missense c.1594 p.A532P 1 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00609,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_vWA-like" - no_errors ITIH5 80760 broad.mit.edu 36 10 7658958 7658958 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 7658958 7658958 G A SNP ITIH5 NM_030569 human genbank 54_36p -1 validated missense c.1442 p.P481L 1 superfamily_vWA-like "HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00609,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_vWA-like" - no_errors ITIH2 3698 broad.mit.edu 36 10 7791086 7791086 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 7791086 7791086 C A SNP ITIH2 NM_002216 human genbank 54_36p 1 validated missense c.288 p.N96K 1 "HMMSmart_VIT,HMMPfam_VIT" "HMMPfam_VWA,HMMSmart_VWA,HMMSmart_VIT,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_SSF53300" - no_errors TAF3 83860 broad.mit.edu 36 10 8047174 8047174 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 8047174 8047174 C T SNP TAF3 NM_031923 human genbank 54_36p 1 provisional silent c.1695 p.D565 0.95 NULL "HMMPfam_Bromo_TP,HMMSmart_BTP,superfamily_Histone-fold,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors TAF3 83860 broad.mit.edu 36 10 8047596 8047596 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 8047596 8047596 A G SNP TAF3 NM_031923 human genbank 54_36p 1 provisional missense c.2117 p.K706R 1 NULL "HMMSmart_PHD,HMMPfam_Bromo_TP,HMMSmart_BTP,superfamily_Histone-fold,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors GATA3 2625 broad.mit.edu 36 10 8140628 8140628 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 8140628 8140628 C T SNP GATA3 NM_001002295 human genbank 54_36p 1 validated missense c.596 p.S199F 0.11 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA" - no_errors UPF2 26019 broad.mit.edu 36 10 12041243 12041243 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 10 12041243 12041243 C T SNP UPF2 NM_015542 human genbank 54_36p -1 reviewed missense c.2303 p.R768H 1 superfamily_ARM repeat "HMMSmart_SM00543,HMMPfam_MIF4G,superfamily_ARM repeat,HMMPfam_Upf2" - no_errors UPF2 26019 broad.mit.edu 36 10 12079761 12079761 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 12079761 12079761 G C SNP UPF2 NM_015542 human genbank 54_36p -1 reviewed missense c.1760 p.A587G 1 "HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat" "HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_Upf2,superfamily_ARM repeat" - no_errors SEC61A2 55176 broad.mit.edu 36 10 12239969 12239969 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 12239969 12239969 C G SNP SEC61A2 NM_018144 human genbank 54_36p 1 reviewed missense c.834 p.S278R 1 "superfamily_Preprotein translocase SecY subunit,HMMPfam_SecY" "superfamily_Preprotein translocase SecY subunit,HMMPfam_Plug_translocon,PatternScan_SECY_1,HMMPfam_SecY,PatternScan_SECY_2" - no_errors NUDT5 11164 broad.mit.edu 36 10 12252907 12252907 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 12252907 12252907 C A SNP NUDT5 NM_014142 human genbank 54_36p -1 validated missense c.494 p.G165V 0.99 "superfamily_Nudix,HMMPfam_NUDIX" "superfamily_Nudix,HMMPfam_NUDIX,PatternScan_NUDIX" - no_errors OPTN 10133 broad.mit.edu 36 10 13207996 13207996 + Missense_Mutation SNP A A C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 13207996 13207996 A C SNP OPTN NM_001008211 human genbank 54_36p 1 reviewed missense c.1193 p.Q398P 0.99 NULL NULL - no_errors MCM10 55388 broad.mit.edu 36 10 13268189 13268189 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 13268189 13268189 A T SNP MCM10 NM_182751 human genbank 54_36p 1 reviewed missense c.1121 p.H374L 1 NULL "HMMPfam_zf-primase,HMMPfam_Mcm10" - no_errors BEND7 222389 broad.mit.edu 36 10 13521201 13521202 + Frame_Shift_Ins INS - TCCC - novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 13521201 13521202 - TCCC INS BEND7 NM_152751 human genbank 54_36p -1 validated frame_shift_ins c.1384_1383 p.H461fs 0.006:0.010 NULL HMMPfam_BEN - no_errors BEND7 222389 broad.mit.edu 36 10 13581899 13581899 + Silent SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 13581899 13581899 C T SNP BEND7 NM_152751 human genbank 54_36p -1 validated silent c.177 p.P59 0.02 NULL HMMPfam_BEN - no_errors FRMD4A 55691 broad.mit.edu 36 10 13843663 13843663 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 13843663 13843663 C A SNP FRMD4A NM_018027 human genbank 54_36p -1 validated missense c.454 p.D152Y 1 "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" "superfamily_SSF54236,HMMSmart_B41,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C" - no_errors HSPA14 51182 broad.mit.edu 36 10 14937856 14937856 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 14937856 14937856 G C SNP HSPA14 NM_016299 human genbank 54_36p 1 validated missense c.901 p.E301Q 1 "HMMPfam_HSP70,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain" - no_errors SUV39H2 79723 broad.mit.edu 36 10 14979166 14979166 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 14979166 14979166 C G SNP SUV39H2 NM_024670 human genbank 54_36p 1 provisional missense c.313 p.P105A 1 "superfamily_SSF82199,HMMPfam_Pre-SET" "HMMPfam_Chromo,HMMSmart_CHROMO,superfamily_Chromodomain-like,PatternScan_CHROMO_1,superfamily_SSF82199,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors DCLRE1C 64421 broad.mit.edu 36 10 15021860 15021860 + Silent SNP G G T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 15021860 15021860 G T SNP DCLRE1C NM_001033855 human genbank 54_36p -1 reviewed silent c.261 p.I87 1 superfamily_Metallo-hydrolase/oxidoreductase "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_DRMBL" - no_errors RPP38 10557 broad.mit.edu 36 10 15185382 15185382 + Silent SNP G G T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 15185382 15185382 G T SNP RPP38 NM_001097590 human genbank 54_36p 1 validated silent c.63 p.V21 0.64 NULL "superfamily_SSF55315,HMMPfam_Ribosomal_L7Ae" - no_errors FAM171A1 221061 broad.mit.edu 36 10 15296558 15296558 + Silent SNP A A G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 15296558 15296558 A G SNP FAM171A1 NM_001010924 human genbank 54_36p -1 validated silent c.1035 p.P345 0 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors CUBN 8029 broad.mit.edu 36 10 16951724 16951724 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 16951724 16951724 C T SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.9371 p.S3124N 0.42 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors CUBN 8029 broad.mit.edu 36 10 16995954 16995954 + Frame_Shift_Del DEL A - A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 16995954 16995954 A - DEL CUBN NM_001081 human genbank 54_36p -1 reviewed frame_shift_del c.7395 p.N2467fs 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "(deletion:cds_exon[16995816,16995997])" no_errors CUBN 8029 broad.mit.edu 36 10 17182224 17182224 + Silent SNP A A G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 17182224 17182224 A G SNP CUBN NM_001081 human genbank 54_36p -1 reviewed silent c.1551 p.T517 0.92 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors CUBN 8029 broad.mit.edu 36 10 17185131 17185131 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 17185131 17185131 T G SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.1529 p.K510T 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors VIM 7431 broad.mit.edu 36 10 17311905 17311905 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 17311905 17311905 C A SNP VIM NM_003380 human genbank 54_36p 1 validated missense c.478 p.Q160K 1 HMMPfam_Filament "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors VIM 7431 broad.mit.edu 36 10 17317384 17317384 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 17317384 17317384 G A SNP VIM NM_003380 human genbank 54_36p 1 validated missense c.1219 p.E407K 1 HMMPfam_Filament "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors MRC1L1 414308 broad.mit.edu 36 10 17905243 17905243 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 17905243 17905243 G A SNP MRC1L1 NM_001009567 human genbank 54_36p 1 reviewed missense c.226 p.G76R 1 "superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" "superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors SLC39A12 221074 broad.mit.edu 36 10 18320236 18320236 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 18320236 18320236 A G SNP SLC39A12 NM_152725 human genbank 54_36p 1 validated missense c.1420 p.K474E 0.36 HMMPfam_Zip HMMPfam_Zip - no_errors NSUN6 221078 broad.mit.edu 36 10 18977517 18977517 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 18977517 18977517 A T SNP NSUN6 NM_182543 human genbank 54_36p -1 validated missense c.139 p.S47T 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_PUA domain-like,HMMPfam_PUA,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN" - no_errors ARL5B 221079 broad.mit.edu 36 10 18995521 18995521 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 18995521 18995521 A G SNP ARL5B NM_178815 human genbank 54_36p 1 validated missense c.58 p.I20V 1 "HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ARF" - no_errors PLXDC2 84898 broad.mit.edu 36 10 20330856 20330856 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 20330856 20330856 C A SNP PLXDC2 NM_032812 human genbank 54_36p 1 provisional missense c.259 p.P87T 0.69 NULL "HMMPfam_PSI,HMMSmart_SM00423" - no_errors NEBL 10529 broad.mit.edu 36 10 21141816 21141816 + Silent SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 21141816 21141816 G A SNP NEBL NM_006393 human genbank 54_36p -1 validated silent c.2406 p.D802 1 HMMSmart_SM00227 "HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors NEBL 10529 broad.mit.edu 36 10 21174197 21174197 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 21174197 21174197 C T SNP NEBL NM_006393 human genbank 54_36p -1 validated missense c.1223 p.R408K 1 "HMMPfam_Nebulin,HMMSmart_SM00227" "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" - no_errors C10orf113 387638 broad.mit.edu 36 10 21475310 21475310 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 21475310 21475310 C G SNP C10orf113 NM_001010896 human genbank 54_36p -1 predicted missense c.104 p.C35S 0 NULL NULL - no_errors C10orf140 387640 broad.mit.edu 36 10 21844265 21844265 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 21844265 21844265 C A SNP C10orf140 NM_207371 human genbank 54_36p -1 validated missense c.2493 p.K831N 1 NULL "superfamily_Putative DNA-binding domain,HMMPfam_Ski_Sno,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors KIAA1217 56243 broad.mit.edu 36 10 24802856 24802856 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 24802856 24802856 G A SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated missense c.1540 p.E514K 1 NULL NULL - no_errors KIAA1217 56243 broad.mit.edu 36 10 24850793 24850793 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 24850793 24850793 G T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated missense c.2385 p.E795D 1 NULL NULL - no_errors ARHGAP21 57584 broad.mit.edu 36 10 24914375 24914375 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 24914375 24914375 C T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.4846 p.D1616N 0.5 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP21 57584 broad.mit.edu 36 10 24924689 24924689 + Silent SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 24924689 24924689 G C SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated silent c.3672 p.S1224 1 "HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP" "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ARHGAP21 57584 broad.mit.edu 36 10 24949169 24949169 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 24949169 24949169 C G SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.1658 p.R553P 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ARHGAP21 57584 broad.mit.edu 36 10 24951666 24951666 + Splice_Site SNP A A T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 24951666 24951666 A T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated splice_site c.522+2 e7+2 1 - - - no_errors PRTFDC1 56952 broad.mit.edu 36 10 25200965 25200965 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 25200965 25200965 C T SNP PRTFDC1 NM_020200 human genbank 54_36p -1 provisional missense c.373 p.G125R 0.86 "superfamily_PRTase-like,HMMPfam_Pribosyltran" "superfamily_PRTase-like,HMMPfam_Pribosyltran" - no_errors GPR158 57512 broad.mit.edu 36 10 25927870 25927870 + Silent SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 25927870 25927870 C T SNP GPR158 NM_020752 human genbank 54_36p 1 validated silent c.3309 p.N1103 0 NULL "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_7tm_3" - no_errors MYO3A 53904 broad.mit.edu 36 10 26326104 26326104 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 26326104 26326104 A T SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.419 p.H140L 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ" - no_errors MYO3A 53904 broad.mit.edu 36 10 26355327 26355327 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 26355327 26355327 T G SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.813 p.D271E 1 "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors GAD2 2572 broad.mit.edu 36 10 26602626 26602626 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 26602626 26602626 G T SNP GAD2 NM_000818 human genbank 54_36p 1 reviewed missense c.1148 p.G383V 1 "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC" "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC" - no_errors ANKRD26 22852 broad.mit.edu 36 10 27366150 27366150 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 27366150 27366150 C T SNP ANKRD26 NM_014915 human genbank 54_36p -1 validated missense c.2668 p.E890K 0.11 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors YME1L1 10730 broad.mit.edu 36 10 27465289 27465289 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 27465289 27465289 C G SNP YME1L1 NM_139312 human genbank 54_36p -1 reviewed missense c.633 p.L211F 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Peptidase_M41" - no_errors PTCHD3 374308 broad.mit.edu 36 10 27742234 27742234 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 10 27742234 27742234 G A SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated missense c.952 p.R318W 0 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors MKX 283078 broad.mit.edu 36 10 28063690 28063690 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 28063690 28063690 C A SNP MKX NM_173576 human genbank 54_36p -1 validated missense c.539 p.G180V 0.73 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ARMC4 55130 broad.mit.edu 36 10 28189712 28189712 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 28189712 28189712 C G SNP ARMC4 NM_018076 human genbank 54_36p -1 validated missense c.2869 p.V957L 1 "superfamily_ARM repeat,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors ARMC4 55130 broad.mit.edu 36 10 28273346 28273346 + Silent SNP C C A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 28273346 28273346 C A SNP ARMC4 NM_018076 human genbank 54_36p -1 validated silent c.1554 p.L518 1 "HMMSmart_SM00185,superfamily_ARM repeat" "HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat" - no_errors SVIL 6840 broad.mit.edu 36 10 29816115 29816115 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 29816115 29816115 C T SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.4468 p.V1490I 1 "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin" "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors SVIL 6840 broad.mit.edu 36 10 29861015 29861015 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 29861015 29861015 G A SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.1931 p.S644F 1 NULL "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors SVIL 6840 broad.mit.edu 36 10 29862321 29862321 + Silent SNP T T G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 29862321 29862321 T G SNP SVIL NM_021738 human genbank 54_36p -1 reviewed silent c.981 p.V327 0 NULL "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors SVIL 6840 broad.mit.edu 36 10 29879989 29879989 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 29879989 29879989 G C SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.370 p.L124V 0.53 NULL "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors SVIL 6840 broad.mit.edu 36 10 29880010 29880010 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 29880010 29880010 C A SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.349 p.A117S 1 NULL "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors KIAA1462 57608 broad.mit.edu 36 10 30356945 30356945 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 30356945 30356945 G C SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated missense c.2138 p.P713R 0 NULL NULL - no_errors KIAA1462 57608 broad.mit.edu 36 10 30358209 30358215 + Frame_Shift_Del DEL GCCTCCC - GCCTCCC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GCCTCCC GCCTCCC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 30358209 30358215 GCCTCCC - DEL KIAA1462 NM_020848 human genbank 54_36p -1 validated frame_shift_del c.874_868 p.G290fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL "(deletion:cds_exon[30355038,30358801])" no_errors KIAA1462 57608 broad.mit.edu 36 10 30376650 30376650 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 30376650 30376650 G A SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated missense c.98 p.A33V 0 NULL NULL - no_errors ZNF438 220929 broad.mit.edu 36 10 31177724 31177724 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 10 31177724 31177724 A G SNP ZNF438 NM_182755 human genbank 54_36p -1 validated missense c.1616 p.I539T 0.91 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZEB1 6935 broad.mit.edu 36 10 31849192 31849192 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 31849192 31849192 C T SNP ZEB1 NM_030751 human genbank 54_36p 1 validated missense c.923 p.T308I 0.97 NULL "PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX" - no_errors ZEB1 6935 broad.mit.edu 36 10 31849766 31849766 + Silent SNP T T C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 31849766 31849766 T C SNP ZEB1 NM_030751 human genbank 54_36p 1 validated silent c.1497 p.A499 0.54 NULL "HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1,superfamily_SSF57667" - no_errors EPC1 80314 broad.mit.edu 36 10 32600731 32600731 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 32600731 32600731 T G SNP EPC1 NM_025209 human genbank 54_36p -1 provisional missense c.2195 p.H732P 1 HMMPfam_E_Pc_C "HMMPfam_EPL1,HMMPfam_E_Pc_C" - no_errors EPC1 80314 broad.mit.edu 36 10 32616103 32616103 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 32616103 32616103 G T SNP EPC1 NM_025209 human genbank 54_36p -1 provisional missense c.1081 p.L361M 1 NULL "HMMPfam_E_Pc_C,HMMPfam_EPL1" - no_errors EPC1 80314 broad.mit.edu 36 10 32620219 32620219 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 32620219 32620219 C G SNP EPC1 NM_025209 human genbank 54_36p -1 provisional missense c.853 p.E285Q 1 NULL "HMMPfam_E_Pc_C,HMMPfam_EPL1" - no_errors ITGB1 3688 broad.mit.edu 36 10 33249239 33249239 + Silent SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 33249239 33249239 G A SNP ITGB1 NM_033667 human genbank 54_36p -1 reviewed silent c.1209 p.N403 0.99 "HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179" ############################################################################################################################################################################################################################################################### - no_errors CUL2 8453 broad.mit.edu 36 10 35357789 35357789 + Silent SNP T T C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 35357789 35357789 T C SNP CUL2 NM_003591 human genbank 54_36p -1 provisional silent c.1572 p.S524 0.96 "HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182" "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_Winged helix DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors CUL2 8453 broad.mit.edu 36 10 35389826 35389826 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 35389826 35389826 T C SNP CUL2 NM_003591 human genbank 54_36p -1 provisional missense c.299 p.Y100C 1 "HMMPfam_Cullin,superfamily_Cullin repeat" "HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_Winged helix DNA-binding domain" - no_errors ANKRD30A 91074 broad.mit.edu 36 10 37470852 37470852 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 37470852 37470852 T A SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.853 p.C285S 0 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE" - no_errors ANKRD30A 91074 broad.mit.edu 36 10 37470979 37470979 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 37470979 37470979 T A SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.980 p.I327N 0 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD30A 91074 broad.mit.edu 36 10 37470980 37470980 + Silent SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 37470980 37470980 C T SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated silent c.981 p.I327 0 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD30A 91074 broad.mit.edu 36 10 37491772 37491772 + Silent SNP A A T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 37491772 37491772 A T SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated silent c.1824 p.T608 0.01 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD30A 91074 broad.mit.edu 36 10 37548593 37548593 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 37548593 37548593 A C SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.3779 p.Q1260P 0.41 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ZNF248 57209 broad.mit.edu 36 10 38160907 38160907 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 38160907 38160907 T C SNP ZNF248 NM_021045 human genbank 54_36p -1 provisional missense c.1382 p.E461G 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF25 219749 broad.mit.edu 36 10 38281644 38281644 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 38281644 38281644 C G SNP ZNF25 NM_145011 human genbank 54_36p -1 provisional missense c.788 p.C263S 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors ZNF33A 7581 broad.mit.edu 36 10 38384567 38384567 + Silent SNP G G C novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 38384567 38384567 G C SNP ZNF33A NM_006954 human genbank 54_36p 1 validated silent c.1509 p.G503 0.72 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RET 5979 broad.mit.edu 36 10 42926708 42926708 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 10 42926708 42926708 C T SNP RET NM_020975 human genbank 54_36p 1 reviewed silent c.1311 p.N437 0 NULL "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors RET 5979 broad.mit.edu 36 10 42929961 42929961 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 42929961 42929961 C T SNP RET NM_020975 human genbank 54_36p 1 reviewed missense c.1907 p.T636M 1 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,superfamily_Cadherin,PatternScan_PROTEIN_KINASE_ATP" - no_errors RET 5979 broad.mit.edu 36 10 42939221 42939221 + Silent SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 10 42939221 42939221 C T SNP RET NM_020975 human genbank 54_36p 1 reviewed silent c.2898 p.T966 0.95 "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like" "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,superfamily_Cadherin,PatternScan_PROTEIN_KINASE_ATP" - no_errors CSGALNACT2 55454 broad.mit.edu 36 10 42982544 42982544 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 10 42982544 42982544 C A SNP CSGALNACT2 NM_018590 human genbank 54_36p 1 provisional missense c.1246 p.Q416K 1 "HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases" "HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors RASGEF1A 221002 broad.mit.edu 36 10 43016152 43016152 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 43016152 43016152 A G SNP RASGEF1A NM_145313 human genbank 54_36p -1 validated missense c.650 p.V217A 0.94 "superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF" "HMMSmart_SM00229,superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF" - no_errors ZNF485 220992 broad.mit.edu 36 10 43424101 43424101 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 43424101 43424101 T G SNP ZNF485 ENST00000374435 human ensembl 54_36p 1 known missense c.58 p.F20V 0.23 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FAM21C 253725 broad.mit.edu 36 10 45592816 45592816 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 45592816 45592816 G C SNP FAM21C NM_015262 human genbank 54_36p 1 validated missense c.2226 p.K742N 0.97 NULL NULL - no_errors PPYR1 5540 broad.mit.edu 36 10 46507280 46507280 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 46507280 46507280 G A SNP PPYR1 NM_005972 human genbank 54_36p 1 validated nonsense c.491 p.W164* 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF488 118738 broad.mit.edu 36 10 47991539 47991539 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 47991539 47991539 G A SNP ZNF488 NM_153034 human genbank 54_36p 1 provisional missense c.1001 p.R334Q 1 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors FRMPD2 143162 broad.mit.edu 36 10 49051061 49051061 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 49051061 49051061 G T SNP FRMPD2 NM_001018071 human genbank 54_36p -1 reviewed missense c.3157 p.R1053S 0 NULL "HMMSmart_SM00750,superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors FRMPD2 143162 broad.mit.edu 36 10 49062833 49062833 + Silent SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 49062833 49062833 C T SNP FRMPD2 NM_001018071 human genbank 54_36p -1 reviewed silent c.2457 p.T819 0.32 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00750,HMMPfam_FERM_N,HMMPfam_FERM_C,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like" - no_errors MAPK8 5599 broad.mit.edu 36 10 49298345 49298345 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 49298345 49298345 C T SNP MAPK8 NM_139047 human genbank 54_36p 1 reviewed missense c.592 p.L198F 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST" - no_errors ARHGAP22 58504 broad.mit.edu 36 10 49324538 49324538 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 49324538 49324538 C G SNP ARHGAP22 NM_021226 human genbank 54_36p -1 validated missense c.1999 p.E667Q 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors LRRC18 474354 broad.mit.edu 36 10 49791871 49791871 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 49791871 49791871 C T SNP LRRC18 NM_001006939 human genbank 54_36p -1 validated silent c.336 p.G112 0.28 "superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1" "superfamily_Outer arm dynein light chain 1,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors LRRC18 474354 broad.mit.edu 36 10 49792137 49792137 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 49792137 49792137 T A SNP LRRC18 NM_001006939 human genbank 54_36p -1 validated missense c.70 p.I24F 0.01 NULL "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_Outer arm dynein light chain 1" - no_errors C10orf71 118461 broad.mit.edu 36 10 50200965 50200965 + Silent SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 50200965 50200965 G A SNP C10orf71 NM_199459 human genbank 54_36p 1 validated silent c.369 p.Q123 1 NULL NULL - no_errors C10orf71 118461 broad.mit.edu 36 10 50201419 50201419 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 50201419 50201419 A C SNP C10orf71 NM_199459 human genbank 54_36p 1 validated missense c.823 p.S275R 1 NULL NULL - no_errors ERCC6 2074 broad.mit.edu 36 10 50408893 50408893 + Splice_Site SNP C C A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 50408893 50408893 C A SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed splice_site c.423-1 e2-1 1 - - - no_errors SLC18A3 6572 broad.mit.edu 36 10 50490335 50490335 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 50490335 50490335 C G SNP SLC18A3 NM_003055 human genbank 54_36p 1 reviewed missense c.1543 p.P515A 0.16 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors OGDHL 55753 broad.mit.edu 36 10 50623880 50623880 + Silent SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 50623880 50623880 G A SNP OGDHL NM_018245 human genbank 54_36p -1 validated silent c.1446 p.N482 1 "superfamily_SSF52518,HMMPfam_E1_dh" "superfamily_SSF52518,HMMPfam_E1_dh,HMMPfam_Transket_pyr" - no_errors AGAP8 728404 broad.mit.edu 36 10 50895039 50895039 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 50895039 50895039 A T SNP AGAP8 NM_001077686 human genbank 54_36p -1 provisional missense c.1949 p.I650N 1 "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors AGAP8 728404 broad.mit.edu 36 10 50895056 50895056 + Silent SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 50895056 50895056 G T SNP AGAP8 NM_001077686 human genbank 54_36p -1 provisional silent c.1932 p.A644 0.96 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_SSF50729" - no_errors FAM21A 387680 broad.mit.edu 36 10 51559210 51559210 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 51559210 51559210 G A SNP FAM21A NM_001005751 human genbank 54_36p 1 validated missense c.3113 p.R1038H 1 NULL NULL - no_errors SGMS1 259230 broad.mit.edu 36 10 51741170 51741170 + Silent SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 51741170 51741170 G A SNP SGMS1 NM_147156 human genbank 54_36p -1 reviewed silent c.753 p.D251 1 NULL "superfamily_SAM/Pointed domain,HMMPfam_SAM_1" - no_errors A1CF 29974 broad.mit.edu 36 10 52258002 52258002 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 52258002 52258002 C G SNP A1CF NM_138932 human genbank 54_36p -1 reviewed missense c.664 p.V222L 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_dsRNA-binding domain-like" - no_errors CSTF2T 23283 broad.mit.edu 36 10 53128896 53128896 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 53128896 53128896 C T SNP CSTF2T NM_015235 human genbank 54_36p -1 validated missense c.420 p.M140I 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors PRKG1 5592 broad.mit.edu 36 10 53492301 53492301 + Splice_Site SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 53492301 53492301 A T SNP PRKG1 NM_006258 human genbank 54_36p 1 validated splice_site c.841-2 e7-2 0.99 - - - no_errors PCDH15 65217 broad.mit.edu 36 10 55236635 55236635 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 55236635 55236635 G C SNP PCDH15 ENST00000373965 human ensembl 54_36p -1 known missense c.4765 p.H1589D 0.99 NULL "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin" - no_errors PCDH15 65217 broad.mit.edu 36 10 55238468 55238468 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 55238468 55238468 G C SNP PCDH15 ENST00000395445 human ensembl 54_36p -1 known missense c.5348 p.T1783R 0.9 NULL "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin" - no_errors PCDH15 65217 broad.mit.edu 36 10 55252095 55252095 + Silent SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 55252095 55252095 G A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed silent c.5397 p.S1799 0 NULL "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin" - no_errors PCDH15 65217 broad.mit.edu 36 10 55625533 55625533 + Silent SNP A A G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 55625533 55625533 A G SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed silent c.1221 p.S407 1 "HMMPfam_Cadherin,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors PCDH15 65217 broad.mit.edu 36 10 55747164 55747164 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 55747164 55747164 G T SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed missense c.749 p.T250N 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors FAM13C 220965 broad.mit.edu 36 10 60753766 60753766 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 60753766 60753766 C T SNP FAM13C NM_198215 human genbank 54_36p -1 validated missense c.431 p.R144Q 0.74 NULL NULL - no_errors CCDC6 8030 broad.mit.edu 36 10 61222782 61222782 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 61222782 61222782 G A SNP CCDC6 NM_005436 human genbank 54_36p -1 validated missense c.1324 p.P442S 1 NULL HMMPfam_DUF2046 - no_errors CCDC6 8030 broad.mit.edu 36 10 61244426 61244426 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 61244426 61244426 C A SNP CCDC6 NM_005436 human genbank 54_36p -1 validated missense c.676 p.A226S 1 HMMPfam_DUF2046 HMMPfam_DUF2046 - no_errors CCDC6 8030 broad.mit.edu 36 10 61244452 61244452 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 10 61244452 61244452 A G SNP CCDC6 NM_005436 human genbank 54_36p -1 validated missense c.650 p.L217P 1 HMMPfam_DUF2046 HMMPfam_DUF2046 - no_errors ANK3 288 broad.mit.edu 36 10 61499391 61499391 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 61499391 61499391 A T SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.11254 p.C3752S 1 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors ANK3 288 broad.mit.edu 36 10 61503331 61503331 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 61503331 61503331 C G SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.7314 p.L2438F 1 NULL "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMSmart_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like" - no_errors ANK3 288 broad.mit.edu 36 10 61504064 61504064 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 61504064 61504064 G C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.6581 p.P2194R 0.99 NULL "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMSmart_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like" - no_errors ANK3 288 broad.mit.edu 36 10 61637875 61637875 + Silent SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 61637875 61637875 C T SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed silent c.1119 p.V373 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMSmart_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like" - no_errors CDK1 983 broad.mit.edu 36 10 62215450 62215450 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 10 62215450 62215450 G C SNP CDC2 NM_001786 human genbank 54_36p 1 reviewed missense c.217 p.D73H 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ARID5B 84159 broad.mit.edu 36 10 63520721 63520721 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 63520721 63520721 A T SNP ARID5B NM_032199 human genbank 54_36p 1 validated missense c.1493 p.E498V 0.94 NULL "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors ZNF365 22891 broad.mit.edu 36 10 63806262 63806262 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 63806262 63806262 T C SNP ZNF365 NM_199451 human genbank 54_36p 1 validated missense c.304 p.Y102H 0.53 NULL HMMSmart_ZnF_C2H2 - no_errors ZNF365 22891 broad.mit.edu 36 10 63806538 63806538 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 63806538 63806538 C A SNP ZNF365 NM_199451 human genbank 54_36p 1 validated missense c.580 p.L194M 1 NULL HMMSmart_ZnF_C2H2 - no_errors EGR2 1959 broad.mit.edu 36 10 64243747 64243747 + Silent SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 64243747 64243747 G C SNP EGR2 NM_000399 human genbank 54_36p -1 reviewed silent c.657 p.L219 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors JMJD1C 221037 broad.mit.edu 36 10 64606169 64606169 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 64606169 64606169 T C SNP JMJD1C NM_032776 human genbank 54_36p -1 validated missense c.7295 p.N2432S 1 "HMMSmart_SM00558,superfamily_Clavaminate synthase-like,HMMPfam_JmjC" "HMMSmart_SM00558,superfamily_Clavaminate synthase-like,HMMPfam_JmjC" - no_errors JMJD1C 221037 broad.mit.edu 36 10 64614412 64614412 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 64614412 64614412 A T SNP JMJD1C NM_032776 human genbank 54_36p -1 validated missense c.6923 p.V2308E 1 HMMSmart_SM00558 "HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like" - no_errors JMJD1C 221037 broad.mit.edu 36 10 64620677 64620677 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 64620677 64620677 A G SNP JMJD1C NM_032776 human genbank 54_36p -1 validated missense c.6274 p.Y2092H 1 NULL "HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like" - no_errors JMJD1C 221037 broad.mit.edu 36 10 64630241 64630241 + Splice_Site SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 64630241 64630241 C A SNP JMJD1C NM_032776 human genbank 54_36p -1 validated splice_site c.5276+1 e11+1 1 - - - no_errors JMJD1C 221037 broad.mit.edu 36 10 64645087 64645087 + Silent SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 64645087 64645087 G A SNP JMJD1C NM_032776 human genbank 54_36p -1 validated silent c.957 p.S319 1 NULL "HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like" - no_errors CTNNA3 29119 broad.mit.edu 36 10 68610239 68610239 + Nonsense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 68610239 68610239 G A SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated nonsense c.889 p.R297* 1 HMMPfam_Vinculin "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" - no_errors HERC4 26091 broad.mit.edu 36 10 69362505 69362505 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69362505 69362505 T C SNP HERC4 NM_022079 human genbank 54_36p -1 validated missense c.2717 p.N906S 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors MYPN 84665 broad.mit.edu 36 10 69625251 69625251 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69625251 69625251 T G SNP MYPN NM_032578 human genbank 54_36p 1 validated missense c.3114 p.S1038R 0.99 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,PatternScan_ER_TARGET" - no_errors PBLD 64081 broad.mit.edu 36 10 69721950 69721950 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69721950 69721950 G T SNP PBLD NM_022129 human genbank 54_36p -1 validated missense c.335 p.A112D 1 "superfamily_SSF54506,HMMPfam_PhzC-PhzF" "superfamily_SSF54506,HMMPfam_PhzC-PhzF" - no_errors HNRNPH3 3189 broad.mit.edu 36 10 69771816 69771816 + Nonstop_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69771816 69771816 G C SNP HNRNPH3 NM_012207 human genbank 54_36p 1 reviewed nonstop c.1040 p.*347S 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors RUFY2 55680 broad.mit.edu 36 10 69775776 69775776 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69775776 69775776 C G SNP RUFY2 NM_017987 human genbank 54_36p -1 validated missense c.1776 p.K592N 0.99 "HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF" "HMMPfam_RUN,HMMSmart_RUN,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF" - no_errors DNA2 1763 broad.mit.edu 36 10 69846615 69846615 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69846615 69846615 C A SNP DNA2 NM_001080449 human genbank 54_36p -1 provisional missense c.3229 p.G1077C 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNA2 1763 broad.mit.edu 36 10 69888979 69888979 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 69888979 69888979 G C SNP DNA2 NM_001080449 human genbank 54_36p -1 provisional missense c.865 p.Q289E 1 HMMPfam_Dna2 "HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNA2 1763 broad.mit.edu 36 10 69895464 69895464 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 69895464 69895464 G C SNP DNA2 NM_001080449 human genbank 54_36p -1 provisional missense c.811 p.Q271E 0.07 HMMPfam_Dna2 "HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TET1 80312 broad.mit.edu 36 10 70121233 70121233 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 70121233 70121233 G A SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.6067 p.A2023T 1 NULL HMMPfam_zf-CXXC - no_errors CCAR1 55749 broad.mit.edu 36 10 70172224 70172224 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 70172224 70172224 C G SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.410 p.S137C 1 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand" - no_errors CCAR1 55749 broad.mit.edu 36 10 70185224 70185224 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 70185224 70185224 C A SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.1550 p.P517H 1 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand,superfamily_SAP domain" - no_errors CCAR1 55749 broad.mit.edu 36 10 70217784 70217784 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 70217784 70217784 C T SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.2975 p.S992F 0.85 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand,superfamily_SAP domain" - no_errors SUPV3L1 6832 broad.mit.edu 36 10 70621417 70621417 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 70621417 70621417 G T SNP SUPV3L1 NM_003171 human genbank 54_36p 1 provisional missense c.742 p.G248C 1 superfamily_SSF52540 "superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors HKDC1 80201 broad.mit.edu 36 10 70678237 70678247 + Frame_Shift_Del DEL TGTCCGCTTCC - TGTCCGCTTCC novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 TGTCCGCTTCC TGTCCGCTTCC - - TGTCCGCTTCC TGTCCGCTTCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 70678237 70678247 TGTCCGCTTCC - DEL HKDC1 NM_025130 human genbank 54_36p 1 validated frame_shift_del c.1317_1327 p.V440fs 0.944:1.000:1.000:0.993:0.998:0.996:0.903:0.999:1.000:0.999:1.000 "HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain" "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" "(deletion:cds_exon[70678186,70678490])" no_errors HKDC1 80201 broad.mit.edu 36 10 70695406 70695406 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 70695406 70695406 C G SNP HKDC1 NM_025130 human genbank 54_36p 1 validated missense c.2432 p.T811R 0.99 "HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain" "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" - no_errors HK1 3098 broad.mit.edu 36 10 70789679 70789679 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 70789679 70789679 C G SNP HK1 NM_033497 human genbank 54_36p 1 reviewed missense c.259 p.L87V 1 "superfamily_SSF53067,HMMPfam_Hexokinase_1" "superfamily_SSF53067,HMMPfam_Hexokinase_1,PatternScan_HEXOKINASES,HMMPfam_Hexokinase_2" - no_errors TACR2 6865 broad.mit.edu 36 10 70836952 70836952 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 70836952 70836952 C A SNP TACR2 NM_001057 human genbank 54_36p -1 validated missense c.832 p.D278Y 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TACR2 6865 broad.mit.edu 36 10 70846081 70846081 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 70846081 70846081 C G SNP TACR2 NM_001057 human genbank 54_36p -1 validated missense c.5 p.G2A 0.88 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors PRF1 5551 broad.mit.edu 36 10 72027815 72027815 + Nonstop_Mutation SNP T T A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 72027815 72027815 T A SNP PRF1 NM_001083116 human genbank 54_36p -1 reviewed nonstop c.1668 p.*556C 0.35 NULL "HMMPfam_MACPF,HMMSmart_SM00457,PatternScan_MAC_PERFORIN,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors ADAMTS14 140766 broad.mit.edu 36 10 72138484 72138484 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 72138484 72138484 G C SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.814 p.V272L 1 "superfamily_SSF55486,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS14 140766 broad.mit.edu 36 10 72170895 72170895 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 72170895 72170895 A T SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.1904 p.H635L 1 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_SSF55486" - no_errors UNC5B 219699 broad.mit.edu 36 10 72716536 72716536 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 72716536 72716536 C T SNP UNC5B NM_170744 human genbank 54_36p 1 validated missense c.637 p.R213C 1 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors UNC5B 219699 broad.mit.edu 36 10 72717487 72717487 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 72717487 72717487 G A SNP UNC5B NM_170744 human genbank 54_36p 1 validated missense c.860 p.G287D 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors CDH23 64072 broad.mit.edu 36 10 73134685 73134685 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 73134685 73134685 C T SNP CDH23 NM_022124 human genbank 54_36p 1 reviewed silent c.2745 p.I915 0.98 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors CDH23 64072 broad.mit.edu 36 10 73228218 73228218 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 73228218 73228218 C T SNP CDH23 NM_022124 human genbank 54_36p 1 reviewed missense c.6931 p.P2311S 0.99 "HMMPfam_Cadherin,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors CDH23 64072 broad.mit.edu 36 10 73232838 73232838 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 73232838 73232838 G T SNP CDH23 NM_022124 human genbank 54_36p 1 reviewed nonsense c.7660 p.E2554* 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors SPOCK2 9806 broad.mit.edu 36 10 73496817 73496817 + Silent SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 73496817 73496817 G A SNP SPOCK2 NM_014767 human genbank 54_36p -1 validated silent c.777 p.T259 1 "HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473" "superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473,superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY" - no_errors CBARA1 10367 broad.mit.edu 36 10 73805581 73805581 + Silent SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 73805581 73805581 C G SNP CBARA1 NM_006077 human genbank 54_36p -1 validated silent c.1242 p.V414 1 "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand" "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors OIT3 170392 broad.mit.edu 36 10 74354372 74354372 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 74354372 74354372 T A SNP OIT3 NM_152635 human genbank 54_36p 1 provisional missense c.1331 p.I444N 0.98 "HMMPfam_Zona_pellucida,HMMSmart_SM00241" "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241" - no_errors PLA2G12B 84647 broad.mit.edu 36 10 74371087 74371087 + Silent SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 74371087 74371087 G A SNP PLA2G12B NM_032562 human genbank 54_36p -1 validated silent c.312 p.G104 1 "HMMPfam_PLA2G12,superfamily_PhospholipaseA2" "PatternScan_PA2_HIS,PatternScan_PA2_ASP,HMMPfam_PLA2G12,superfamily_PhospholipaseA2,PatternScan_ER_TARGET" - no_errors PLA2G12B 84647 broad.mit.edu 36 10 74372423 74372423 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 74372423 74372423 G A SNP PLA2G12B NM_032562 human genbank 54_36p -1 validated missense c.293 p.P98L 1 "HMMPfam_PLA2G12,superfamily_PhospholipaseA2" "PatternScan_ER_TARGET,HMMPfam_PLA2G12,PatternScan_PA2_HIS,PatternScan_PA2_ASP,superfamily_PhospholipaseA2" - no_errors ANXA7 310 broad.mit.edu 36 10 74826311 74826311 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 74826311 74826311 G C SNP ANXA7 NM_004034 human genbank 54_36p -1 reviewed missense c.407 p.P136R 1 NULL "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors MYOZ1 58529 broad.mit.edu 36 10 75063684 75063684 + Silent SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75063684 75063684 G T SNP MYOZ1 NM_021245 human genbank 54_36p -1 provisional silent c.648 p.P216 0.94 HMMPfam_Calsarcin HMMPfam_Calsarcin - no_errors SYNPO2L 79933 broad.mit.edu 36 10 75077114 75077114 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75077114 75077114 G C SNP SYNPO2L NM_024875 human genbank 54_36p -1 validated missense c.1630 p.R544G 1 NULL NULL - no_errors KIAA0913 23053 broad.mit.edu 36 10 75223938 75223938 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 75223938 75223938 G A SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated missense c.2653 p.V885M 1 NULL HMMPfam_SWIM - no_errors KIAA0913 23053 broad.mit.edu 36 10 75226634 75226634 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75226634 75226634 A T SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated missense c.3130 p.R1044W 1 NULL HMMPfam_SWIM - no_errors KIAA0913 23053 broad.mit.edu 36 10 75227155 75227155 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75227155 75227155 G C SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated missense c.3448 p.D1150H 1 NULL HMMPfam_SWIM - no_errors KIAA0913 23053 broad.mit.edu 36 10 75230191 75230191 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75230191 75230191 G A SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated missense c.4981 p.V1661I 1 NULL HMMPfam_SWIM - no_errors NDST2 8509 broad.mit.edu 36 10 75236222 75236222 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 75236222 75236222 G A SNP NDST2 NM_003635 human genbank 54_36p -1 reviewed missense c.1265 p.T422M 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors PLAU 5328 broad.mit.edu 36 10 75342766 75342766 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75342766 75342766 G T SNP PLAU NM_002658 human genbank 54_36p 1 reviewed missense c.272 p.C91F 0.99 "superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle" "superfamily_Kringle-like,PatternScan_EGF_1,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors PLAU 5328 broad.mit.edu 36 10 75343489 75343489 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75343489 75343489 C G SNP PLAU NM_002658 human genbank 54_36p 1 reviewed missense c.647 p.P216R 1 "HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases" "HMMPfam_Kringle,HMMSmart_SM00130,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_EGF_1,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors VCL 7414 broad.mit.edu 36 10 75527093 75527093 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75527093 75527093 A T SNP VCL NM_014000 human genbank 54_36p 1 reviewed missense c.1869 p.E623D 1 "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" "superfamily_alpha-catenin/vinculin,HMMPfam_Vinculin,PatternScan_VINCULIN_1,PatternScan_VINCULIN_2" - no_errors ADK 132 broad.mit.edu 36 10 75654357 75654357 + Splice_Site SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 75654357 75654357 T G SNP ADK NM_006721 human genbank 54_36p 1 reviewed splice_site c.194+2 e3+2 1 - - - no_errors MYST4 23522 broad.mit.edu 36 10 76454930 76454930 + Missense_Mutation SNP A A T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 76454930 76454930 A T SNP MYST4 NM_012330 human genbank 54_36p 1 validated missense c.3581 p.Q1194L 0.37 NULL "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors MYST4 23522 broad.mit.edu 36 10 76460652 76460652 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 76460652 76460652 C T SNP MYST4 NM_012330 human genbank 54_36p 1 validated nonsense c.6064 p.Q2022* 1 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors DUPD1 338599 broad.mit.edu 36 10 76473583 76473583 + Silent SNP G G A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 76473583 76473583 G A SNP DUPD1 NM_001003892 human genbank 54_36p -1 provisional silent c.399 p.D133 0.01 "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors VDAC2 7417 broad.mit.edu 36 10 76643806 76643806 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 76643806 76643806 A G SNP VDAC2 NM_003375 human genbank 54_36p 1 provisional missense c.122 p.D41G 1 HMMPfam_Porin_3 "HMMPfam_Porin_3,PatternScan_EUKARYOTIC_PORIN" - no_errors ZNF503 84858 broad.mit.edu 36 10 76828582 76828582 + Silent SNP T T G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 76828582 76828582 T G SNP ZNF503 NM_032772 human genbank 54_36p -1 validated silent c.1872 p.G624 1 NULL NULL - no_errors DLG5 9231 broad.mit.edu 36 10 79239434 79239434 + Silent SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 79239434 79239434 G T SNP DLG5 NM_004747 human genbank 54_36p -1 reviewed silent c.4524 p.S1508 1 "superfamily_PDZ domain-like,HMMPfam_PDZ" ############################################################################################################################################################################################################################################################### - no_errors DLG5 9231 broad.mit.edu 36 10 79265505 79265505 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 79265505 79265505 A C SNP DLG5 NM_004747 human genbank 54_36p -1 reviewed missense c.1619 p.I540S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors RPS24 6229 broad.mit.edu 36 10 79465318 79465318 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 79465318 79465318 C G SNP RPS24 NM_001026 human genbank 54_36p 1 reviewed missense c.113 p.T38R 1 HMMPfam_Ribosomal_S24e "HMMPfam_Ribosomal_S24e,PatternScan_RIBOSOMAL_S24E" - no_errors ZMIZ1 57178 broad.mit.edu 36 10 80722051 80722051 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 80722051 80722051 G A SNP ZMIZ1 NM_020338 human genbank 54_36p 1 validated missense c.889 p.A297T 1 NULL "superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors PLAC9 219348 broad.mit.edu 36 10 81893998 81893998 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 81893998 81893998 A G SNP PLAC9 NM_001012973 human genbank 54_36p 1 provisional missense c.202 p.K68E 0.66 NULL NULL - no_errors TSPAN14 81619 broad.mit.edu 36 10 82259120 82259120 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 82259120 82259120 C T SNP TSPAN14 NM_030927 human genbank 54_36p 1 validated silent c.363 p.D121 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors NRG3 10718 broad.mit.edu 36 10 83625517 83625517 + Silent SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 83625517 83625517 C A SNP NRG3 NM_001010848 human genbank 54_36p 1 validated silent c.441 p.S147 0.99 NULL "superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Neuregulin" - no_errors LRIT2 340745 broad.mit.edu 36 10 85971779 85971779 + Silent SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 85971779 85971779 G A SNP LRIT2 NM_001017924 human genbank 54_36p -1 validated silent c.1530 p.T510 0 NULL "HMMPfam_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors LRIT2 340745 broad.mit.edu 36 10 85972046 85972047 + Frame_Shift_Ins INS - CC - novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 85972046 85972047 - CC INS LRIT2 NM_001017924 human genbank 54_36p -1 validated frame_shift_ins c.1263_1262 p.D421fs 0.804:0.842 NULL "HMMPfam_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors LRIT2 340745 broad.mit.edu 36 10 85975220 85975220 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 85975220 85975220 C T SNP LRIT2 NM_001017924 human genbank 54_36p -1 validated missense c.37 p.V13I 0 NULL "HMMPfam_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058" - no_errors RGR 5995 broad.mit.edu 36 10 85998718 85998718 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 85998718 85998718 G A SNP RGR ENST00000372092 human ensembl 54_36p 1 known missense c.259 p.V87I 0.32 NULL NULL - no_errors FAM190B 54462 broad.mit.edu 36 10 86121396 86121396 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 86121396 86121396 T C SNP KIAA1128 NM_018999 human genbank 54_36p 1 validated missense c.608 p.L203S 1 NULL NULL - no_errors FAM190B 54462 broad.mit.edu 36 10 86121660 86121660 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 86121660 86121660 A G SNP KIAA1128 NM_018999 human genbank 54_36p 1 validated missense c.872 p.N291S 0.64 NULL NULL - no_errors GRID1 2894 broad.mit.edu 36 10 87665922 87665922 + Splice_Site SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 87665922 87665922 C T SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed splice_site c.780+1 e5+1 1 - - - no_errors WAPAL 23063 broad.mit.edu 36 10 88187336 88187336 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 88187336 88187336 C G SNP WAPAL NM_015045 human genbank 54_36p -1 validated missense c.3517 p.G1173R 1 NULL "superfamily_ARM repeat,HMMPfam_WAPL" - no_errors WAPAL 23063 broad.mit.edu 36 10 88249462 88249462 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88249462 88249462 G T SNP WAPAL NM_015045 human genbank 54_36p -1 validated missense c.1518 p.N506K 1 NULL "HMMPfam_WAPL,superfamily_ARM repeat" - no_errors OPN4 94233 broad.mit.edu 36 10 88408398 88408398 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88408398 88408398 G A SNP OPN4 NM_001030015 human genbank 54_36p 1 validated nonsense c.635 p.W212* 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN" - no_errors OPN4 94233 broad.mit.edu 36 10 88409632 88409632 + Silent SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88409632 88409632 G A SNP OPN4 NM_001030015 human genbank 54_36p 1 validated silent c.834 p.R278 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN,superfamily_SSF81321" - no_errors OPN4 94233 broad.mit.edu 36 10 88409710 88409710 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 88409710 88409710 G C SNP OPN4 NM_001030015 human genbank 54_36p 1 validated missense c.912 p.K304N 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN,superfamily_SSF81321" - no_errors LDB3 11155 broad.mit.edu 36 10 88431336 88431336 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88431336 88431336 G C SNP LDB3 NM_007078 human genbank 54_36p 1 reviewed missense c.485 p.G162A 0.05 NULL "HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1" - no_errors LDB3 11155 broad.mit.edu 36 10 88449030 88449030 + Silent SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 88449030 88449030 G T SNP LDB3 NM_001080115 human genbank 54_36p 1 reviewed silent c.912 p.T304 1 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_ZM" - no_errors LDB3 11155 broad.mit.edu 36 10 88466430 88466430 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88466430 88466430 G A SNP LDB3 NM_007078 human genbank 54_36p 1 reviewed missense c.1598 p.R533K 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors BMPR1A 657 broad.mit.edu 36 10 88641943 88641943 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88641943 88641943 G A SNP BMPR1A NM_004329 human genbank 54_36p 1 reviewed missense c.310 p.E104K 1 "superfamily_SSF57302,HMMPfam_Activin_recp" "superfamily_SSF57302,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors AGAP11 119385 broad.mit.edu 36 10 88759447 88759447 + Silent SNP A A T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 88759447 88759447 A T SNP AGAP11 NM_133447 human genbank 54_36p 1 validated silent c.1458 p.G486 0.98 superfamily_ANK "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors FAM35A 54537 broad.mit.edu 36 10 88901636 88901636 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 88901636 88901636 G C SNP FAM35A NM_019054 human genbank 54_36p 1 validated missense c.545 p.C182S 0 NULL NULL - no_errors PAPSS2 9060 broad.mit.edu 36 10 89493176 89493176 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 89493176 89493176 C G SNP PAPSS2 NM_001015880 human genbank 54_36p 1 reviewed missense c.1289 p.T430S 1 "HMMPfam_ATP-sulfurylase,superfamily_SSF52374" "superfamily_SSF52540,HMMPfam_APS_kinase,superfamily_PUA-like,HMMPfam_ATP-sulfurylase,superfamily_SSF52374" - no_errors ATAD1 84896 broad.mit.edu 36 10 89504434 89504434 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 89504434 89504434 C A SNP ATAD1 NM_032810 human genbank 54_36p -1 provisional missense c.1076 p.C359F 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Frame_Shift_Del DEL C - - novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 89707652 89707652 C - DEL PTEN NM_000314 human genbank 54_36p 1 reviewed frame_shift_del c.697 p.R233fs 1 "HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "(deletion:cds_exon[89707590,89707756])" no_errors LIPK 643414 broad.mit.edu 36 10 90502302 90502302 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 90502302 90502302 A G SNP LIPK NM_001080518 human genbank 54_36p 1 provisional missense c.1009 p.I337V 0.96 "superfamily_SSF53474,HMMPfam_Abhydrolase_1" "superfamily_SSF53474,HMMPfam_Abhydro_lipase,HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER" - no_errors STAMBPL1 57559 broad.mit.edu 36 10 90666466 90666466 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 90666466 90666466 C A SNP STAMBPL1 NM_020799 human genbank 54_36p 1 provisional missense c.953 p.A318E 1 "HMMPfam_Mov34,superfamily_JAB1/MPN domain,HMMSmart_SM00232" "HMMPfam_Mov34,superfamily_JAB1/MPN domain,HMMSmart_SM00232" - no_errors IFIT2 3433 broad.mit.edu 36 10 91056285 91056285 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 91056285 91056285 C G SNP IFIT2 NM_001547 human genbank 54_36p 1 validated missense c.592 p.L198V 0.34 "superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors KIF20B 9585 broad.mit.edu 36 10 91469206 91469206 + Silent SNP T T C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 91469206 91469206 T C SNP KIF20B NM_016195 human genbank 54_36p 1 validated silent c.1485 p.P495 0.17 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HTR7 3363 broad.mit.edu 36 10 92499253 92499253 + Silent SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 92499253 92499253 G A SNP HTR7 NM_019859 human genbank 54_36p -1 reviewed silent c.618 p.V206 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors IDE 3416 broad.mit.edu 36 10 94224601 94224601 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 94224601 94224601 T G SNP IDE NM_004969 human genbank 54_36p -1 validated missense c.2093 p.D698A 1 superfamily_Metalloenz_metal-bd "superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C" - no_errors EXOC6 54536 broad.mit.edu 36 10 94644724 94644724 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 94644724 94644724 A G SNP EXOC6 NM_019053 human genbank 54_36p 1 reviewed missense c.379 p.T127A 1 NULL HMMPfam_Sec15 - no_errors CYP26C1 340665 broad.mit.edu 36 10 94818155 94818156 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 94818155 94818156 GC AT DNP CYP26C1 NM_183374 human genbank 54_36p 1 reviewed missense c.1280_1281 p.G427D 1.000:1.000 "superfamily_Cytochrome_P450,HMMPfam_p450" "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors MYOF 26509 broad.mit.edu 36 10 95079462 95079462 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 95079462 95079462 C T SNP MYOF NM_013451 human genbank 54_36p -1 reviewed missense c.4931 p.R1644Q 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239" "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694" - no_errors MYOF 26509 broad.mit.edu 36 10 95106547 95106547 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 95106547 95106547 T C SNP MYOF NM_013451 human genbank 54_36p -1 reviewed missense c.3169 p.I1057V 1 HMMSmart_SM00694 "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI" - no_errors MYOF 26509 broad.mit.edu 36 10 95113795 95113795 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 95113795 95113795 G A SNP MYOF NM_013451 human genbank 54_36p -1 reviewed silent c.2781 p.H927 1 HMMSmart_SM00693 "HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI" - no_errors MYOF 26509 broad.mit.edu 36 10 95124664 95124665 + Frame_Shift_Ins INS - T - novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W - - T T - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 95124664 95124665 - T INS MYOF NM_013451 human genbank 54_36p -1 reviewed frame_shift_ins c.2147_2146 p.T716fs 0.201:0.999 HMMPfam_FerA "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694" - no_errors LGI1 9211 broad.mit.edu 36 10 95542597 95542597 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 95542597 95542597 C G SNP LGI1 NM_005097 human genbank 54_36p 1 reviewed missense c.611 p.P204R 0.99 "superfamily_L domain-like,HMMSmart_SM00082" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_EPTP" - no_errors PLCE1 51196 broad.mit.edu 36 10 95781564 95781564 + Silent SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 95781564 95781564 C T SNP PLCE1 NM_016341 human genbank 54_36p 1 validated silent c.771 p.D257 0.01 superfamily_Ras GEF ############################################################################################################################################################################################################################################################### - no_errors PLCE1 51196 broad.mit.edu 36 10 95996007 95996007 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 95996007 95996007 A G SNP PLCE1 NM_016341 human genbank 54_36p 1 validated missense c.2735 p.N912S 0.04 NULL ############################################################################################################################################################################################################################################################### - no_errors NOC3L 64318 broad.mit.edu 36 10 96089607 96089607 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 96089607 96089607 C T SNP NOC3L NM_022451 human genbank 54_36p -1 provisional missense c.1841 p.R614H 1 HMMPfam_CBF "HMMPfam_NOC3p,HMMPfam_CBF" - no_errors HELLS 3070 broad.mit.edu 36 10 96331226 96331226 + Silent SNP T T C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 96331226 96331226 T C SNP HELLS NM_018063 human genbank 54_36p 1 reviewed silent c.1186 p.L396 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors CYP2C19 1557 broad.mit.edu 36 10 96592593 96592593 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 96592593 96592593 A G SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.971 p.Q324R 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C19 1557 broad.mit.edu 36 10 96592719 96592719 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 96592719 96592719 T A SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.1097 p.L366Q 0 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors PDLIM1 9124 broad.mit.edu 36 10 97013632 97013632 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 97013632 97013632 C A SNP PDLIM1 NM_020992 human genbank 54_36p -1 provisional missense c.512 p.G171V 0.01 NULL "HMMPfam_PDZ,superfamily_PDZ,HMMSmart_PDZ,HMMSmart_ZM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors SORBS1 10580 broad.mit.edu 36 10 97086835 97086835 + Silent SNP T T A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 97086835 97086835 T A SNP SORBS1 NM_001034954 human genbank 54_36p -1 validated silent c.3072 p.S1024 0 NULL "HMMPfam_Sorb,HMMSmart_SM00459,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors CC2D2B 387707 broad.mit.edu 36 10 97781668 97781668 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 97781668 97781668 A C SNP CC2D2B NM_001001732 human genbank 54_36p 1 provisional missense c.882 p.E294D 1 NULL NULL - no_errors CCNJ 54619 broad.mit.edu 36 10 97807950 97807950 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 97807950 97807950 G A SNP CCNJ NM_019084 human genbank 54_36p 1 validated missense c.1081 p.E361K 1 NULL "HMMPfam_Cyclin_N,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors ZNF518A 9849 broad.mit.edu 36 10 97906333 97906333 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 97906333 97906333 G C SNP ZNF518 ENST00000371192 human ensembl 54_36p 1 known missense c.264 p.K88N 0.03 NULL "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF518A 9849 broad.mit.edu 36 10 97906850 97906850 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 97906850 97906850 C T SNP ZNF518 ENST00000371192 human ensembl 54_36p 1 known missense c.781 p.P261S 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors DNTT 1791 broad.mit.edu 36 10 98054410 98054410 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 98054410 98054410 G T SNP DNTT NM_004088 human genbank 54_36p 1 reviewed missense c.166 p.A56S 1 "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" ############################################################################################################################################################################################################################################################### - no_errors TLL2 7093 broad.mit.edu 36 10 98195864 98195864 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 98195864 98195864 T G SNP TLL2 NM_012465 human genbank 54_36p -1 reviewed missense c.338 p.D113A 0 NULL "PatternScan_EGF_1,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Astacin,PatternScan_ZINC_PROTEASE,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,superfamily_SSF57196,PatternScan_EGF_2,HMMPfam_EGF" - no_errors PIK3AP1 118788 broad.mit.edu 36 10 98370188 98370188 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 98370188 98370188 C T SNP PIK3AP1 NM_152309 human genbank 54_36p -1 validated missense c.1852 p.G618S 1 NULL superfamily_Ankyrin repeat - no_errors LCOR 84458 broad.mit.edu 36 10 98698842 98698842 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 98698842 98698842 C T SNP LCOR NM_032440 human genbank 54_36p 1 provisional missense c.38 p.T13I 1 NULL HMMPfam_HTH_psq - no_errors LCOR 84458 broad.mit.edu 36 10 98704815 98704815 + Nonsense_Mutation SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 98704815 98704815 A T SNP LCOR NM_032440 human genbank 54_36p 1 provisional nonsense c.448 p.K150* 1 NULL HMMPfam_HTH_psq - no_errors C10orf12 26148 broad.mit.edu 36 10 98733844 98733844 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 98733844 98733844 G A SNP C10orf12 NM_015652 human genbank 54_36p 1 predicted missense c.2707 p.V903I 1 NULL NULL - no_errors SLIT1 6585 broad.mit.edu 36 10 98797726 98797726 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 98797726 98797726 T A SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.1483 p.I495F 1 superfamily_L domain-like ############################################################################################################################################################################################################################################################### - no_errors SLIT1 6585 broad.mit.edu 36 10 98806955 98806955 + Splice_Site SNP A A C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 98806955 98806955 A C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated splice_site c.1157+2 e12+2 1 - - - no_errors ARHGAP19 84986 broad.mit.edu 36 10 99042323 99042323 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 99042323 99042323 G A SNP ARHGAP19 NM_032900 human genbank 54_36p -1 validated missense c.52 p.R18W 0.96 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors RRP12 23223 broad.mit.edu 36 10 99140562 99140562 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 99140562 99140562 A T SNP RRP12 NM_015179 human genbank 54_36p -1 validated missense c.560 p.F187Y 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_NUC173" - no_errors ZDHHC16 84287 broad.mit.edu 36 10 99202176 99202176 + Silent SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 99202176 99202176 C T SNP ZDHHC16 NM_032327 human genbank 54_36p 1 validated silent c.453 p.I151 0.02 NULL HMMPfam_zf-DHHC - no_errors ANKRD2 26287 broad.mit.edu 36 10 99333386 99333386 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 99333386 99333386 C A SNP ANKRD2 NM_020349 human genbank 54_36p 1 validated missense c.997 p.H333N 0.98 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors ZFYVE27 118813 broad.mit.edu 36 10 99500132 99500132 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 99500132 99500132 A G SNP ZFYVE27 NM_001002261 human genbank 54_36p 1 validated missense c.719 p.E240G 0.08 NULL "superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors SFRP5 6425 broad.mit.edu 36 10 99517249 99517275 + 3'UTR DEL GAGGAGTGCCCTTCAGTGGGGCTCTGC - GAGGAGTGCCCTTCAGTGGGGCTCTGC novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W GAGGAGTGCCCTTCAGTGGGGCTCTGC GAGGAGTGCCCTTCAGTGGGGCTCTGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 99517249 99517275 GAGGAGTGCCCTTCAGTGGGGCTCTGC - DEL SFRP5 NM_003015 human genbank 54_36p -1 reviewed 3_prime_untranslated_region c.*12 NULL 0.001:0.002:0.002:0.007:0.007:0.004:0.003:0.002:0.031:0.098:0.193:0.219:0.208:0.979:0.981:1.000:1.000:1.000:0.998:0.946:0.944:0.938:0.025:0.022:0.019:0.010:0.093 - - "(deletion:utr_exon[99516508,99517260], cds_exon[99517261,99517607])" no_errors CRTAC1 55118 broad.mit.edu 36 10 99645147 99645147 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 99645147 99645147 T A SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1331 p.N444I 1 superfamily_Integrin alpha N-terminal domain "superfamily_Integrin alpha N-terminal domain,HMMPfam_FG-GAP,HMMPfam_UnbV_ASPIC,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179" - no_errors CRTAC1 55118 broad.mit.edu 36 10 99651312 99651312 + Silent SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 99651312 99651312 C T SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated silent c.1071 p.Q357 1 superfamily_Integrin alpha N-terminal domain "HMMSmart_SM00179,HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain" - no_errors CRTAC1 55118 broad.mit.edu 36 10 99657889 99657889 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 99657889 99657889 G A SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated nonsense c.721 p.R241* 1 superfamily_Integrin alpha N-terminal domain "HMMSmart_SM00179,HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain" - no_errors LOXL4 84171 broad.mit.edu 36 10 100001319 100001319 + Silent SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 100001319 100001319 G A SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed silent c.2082 p.I694 1 HMMPfam_Lysyl_oxidase "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE" - no_errors LOXL4 84171 broad.mit.edu 36 10 100005384 100005384 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 100005384 100005384 C G SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed missense c.1531 p.G511R 1 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_LYSYL_OXIDASE" - no_errors LOXL4 84171 broad.mit.edu 36 10 100007887 100007887 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 100007887 100007887 C T SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed missense c.946 p.G316R 1 "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_LYSYL_OXIDASE" - no_errors HPSE2 60495 broad.mit.edu 36 10 100894116 100894116 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 100894116 100894116 T A SNP HPSE2 NM_021828 human genbank 54_36p -1 validated missense c.479 p.K160I 1 HMMPfam_Glyco_hydro_79n HMMPfam_Glyco_hydro_79n - no_errors CNNM1 26507 broad.mit.edu 36 10 101137749 101137749 + Silent SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 101137749 101137749 G A SNP CNNM1 NM_020348 human genbank 54_36p 1 validated silent c.2523 p.P841 0.42 NULL "HMMPfam_DUF21,HMMPfam_CBS,HMMSmart_CBS" - no_errors NKX2-3 159296 broad.mit.edu 36 10 101282907 101282907 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 101282907 101282907 C T SNP NKX2-3 NM_145285 human genbank 54_36p 1 validated missense c.29 p.T10I 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors COX15 1355 broad.mit.edu 36 10 101477240 101477240 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 101477240 101477240 C T SNP COX15 NM_078470 human genbank 54_36p -1 reviewed missense c.343 p.E115K 1 "superfamily_Trypsin-like serine proteases,HMMPfam_COX15-CtaA" "superfamily_Trypsin-like serine proteases,HMMPfam_COX15-CtaA" - no_errors ABCC2 1244 broad.mit.edu 36 10 101562876 101562876 + Silent SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 101562876 101562876 G T SNP ABCC2 NM_000392 human genbank 54_36p 1 reviewed silent c.2079 p.G693 0.97 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors DNMBP 23268 broad.mit.edu 36 10 101629935 101629935 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 101629935 101629935 C T SNP DNMBP NM_015221 human genbank 54_36p -1 validated missense c.4171 p.A1391T 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,HMMSmart_SM00721,HMMPfam_BAR" - no_errors DNMBP 23268 broad.mit.edu 36 10 101636204 101636204 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 101636204 101636204 C T SNP DNMBP NM_015221 human genbank 54_36p -1 validated missense c.3461 p.R1154Q 1 "HMMPfam_BAR,HMMSmart_SM00721" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_BAR,HMMSmart_SM00721,HMMPfam_SH3_2" - no_errors DNMBP 23268 broad.mit.edu 36 10 101649751 101649751 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 101649751 101649751 G T SNP DNMBP NM_015221 human genbank 54_36p -1 validated missense c.2617 p.H873N 1 "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_BAR,HMMSmart_SM00721,HMMPfam_SH3_2" - no_errors DNMBP 23268 broad.mit.edu 36 10 101721823 101721823 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 101721823 101721823 C T SNP DNMBP NM_015221 human genbank 54_36p -1 validated missense c.49 p.V17I 1 "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_BAR,HMMSmart_SM00721,HMMPfam_SH3_2" - no_errors PKD2L1 9033 broad.mit.edu 36 10 102041049 102041049 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 102041049 102041049 C G SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.2006 p.R669T 1 NULL "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" - no_errors SEC31B 25956 broad.mit.edu 36 10 102245214 102245214 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 102245214 102245214 G C SNP SEC31B NM_015490 human genbank 54_36p -1 reviewed missense c.2390 p.P797R 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LZTS2 84445 broad.mit.edu 36 10 102753417 102753417 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 102753417 102753417 C G SNP LZTS2 NM_032429 human genbank 54_36p 1 provisional missense c.572 p.S191C 0.71 NULL HMMPfam_Fez1 - no_errors LZTS2 84445 broad.mit.edu 36 10 102753460 102753460 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 102753460 102753460 T A SNP LZTS2 NM_032429 human genbank 54_36p 1 provisional missense c.615 p.F205L 0.96 NULL HMMPfam_Fez1 - no_errors LZTS2 84445 broad.mit.edu 36 10 102753906 102753906 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 102753906 102753906 T A SNP LZTS2 NM_032429 human genbank 54_36p 1 provisional missense c.1061 p.M354K 1 NULL HMMPfam_Fez1 - no_errors KAZALD1 81621 broad.mit.edu 36 10 102812655 102812655 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 102812655 102812655 C G SNP KAZALD1 NM_030929 human genbank 54_36p 1 reviewed missense c.316 p.L106V 1 NULL "superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_2,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors BTRC 8945 broad.mit.edu 36 10 103286364 103286364 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 103286364 103286364 T A SNP BTRC NM_033637 human genbank 54_36p 1 reviewed missense c.1541 p.F514Y 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors MGEA5 10724 broad.mit.edu 36 10 103540644 103540644 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 103540644 103540644 T A SNP MGEA5 NM_012215 human genbank 54_36p -1 validated missense c.2453 p.E818V 1 superfamily_Acyl-CoA N-acyltransferases (Nat) "HMMPfam_NAGidase,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors PPRC1 23082 broad.mit.edu 36 10 103887617 103887617 + Silent SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 103887617 103887617 G A SNP PPRC1 NM_015062 human genbank 54_36p 1 reviewed silent c.174 p.A58 0.81 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors NOLC1 9221 broad.mit.edu 36 10 103909240 103909240 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 103909240 103909240 C T SNP NOLC1 NM_004741 human genbank 54_36p 1 validated missense c.784 p.R262W 0.89 NULL HMMPfam_SRP40_C - no_errors ELOVL3 83401 broad.mit.edu 36 10 103978940 103978940 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 103978940 103978940 C A SNP ELOVL3 NM_152310 human genbank 54_36p 1 provisional missense c.754 p.H252N 0.02 HMMPfam_ELO "HMMPfam_ELO,PatternScan_ELO" - no_errors PSD 5662 broad.mit.edu 36 10 104166290 104166290 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 104166290 104166290 C T SNP PSD NM_002779 human genbank 54_36p -1 provisional missense c.496 p.A166T 0.02 NULL "HMMSmart_SM00222,HMMPfam_Sec7,superfamily_Sec7 domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors CNNM2 54805 broad.mit.edu 36 10 104669537 104669537 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 104669537 104669537 G A SNP CNNM2 NM_017649 human genbank 54_36p 1 validated missense c.1310 p.G437E 1 NULL "HMMPfam_DUF21,HMMPfam_CBS" - no_errors TAF5 6877 broad.mit.edu 36 10 105137817 105137817 + Silent SNP T T C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 105137817 105137817 T C SNP TAF5 NM_006951 human genbank 54_36p 1 reviewed silent c.2250 p.D750 1 superfamily_WD40 repeat-like "HMMPfam_TFIID_90kDa,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors PDCD11 22984 broad.mit.edu 36 10 105168268 105168268 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 105168268 105168268 C T SNP PDCD11 NM_014976 human genbank 54_36p 1 validated missense c.1993 p.P665S 1 "superfamily_Nucleic_acid_OB,HMMSmart_S1" "superfamily_Nucleic_acid_OB,HMMSmart_S1,HMMPfam_S1,superfamily_SSF48452,HMMSmart_HAT" - no_errors NEURL 9148 broad.mit.edu 36 10 105320752 105320752 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 105320752 105320752 G C SNP NEURL NM_004210 human genbank 54_36p 1 validated missense c.219 p.Q73H 1 "HMMSmart_SM00588,HMMPfam_Neuralized" "HMMSmart_SM00588,HMMPfam_Neuralized,superfamily_RING/U-box" - no_errors NEURL 9148 broad.mit.edu 36 10 105334913 105334913 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 105334913 105334913 C T SNP NEURL NM_004210 human genbank 54_36p 1 validated missense c.1280 p.S427L 1 NULL "HMMPfam_Neuralized,HMMSmart_SM00588,superfamily_RING/U-box" - no_errors SH3PXD2A 9644 broad.mit.edu 36 10 105352548 105352548 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 105352548 105352548 G A SNP SH3PXD2A NM_014631 human genbank 54_36p -1 validated missense c.2333 p.T778M 1 NULL "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors OBFC1 79991 broad.mit.edu 36 10 105638857 105638857 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 105638857 105638857 G C SNP OBFC1 NM_024928 human genbank 54_36p -1 validated missense c.912 p.I304M 0.93 HMMPfam_DUF1879 "superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_DUF1879" - no_errors SLK 9748 broad.mit.edu 36 10 105758054 105758054 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 105758054 105758054 G T SNP SLK NM_014720 human genbank 54_36p 1 provisional nonsense c.2734 p.E912* 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors COL17A1 1308 broad.mit.edu 36 10 105789739 105789739 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 10 105789739 105789739 C A SNP COL17A1 NM_000494 human genbank 54_36p -1 reviewed missense c.2770 p.G924C 1 HMMPfam_Collagen HMMPfam_Collagen - no_errors COL17A1 1308 broad.mit.edu 36 10 105809882 105809882 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 105809882 105809882 C T SNP COL17A1 NM_000494 human genbank 54_36p -1 reviewed missense c.1126 p.A376T 0.79 NULL HMMPfam_Collagen - no_errors COL17A1 1308 broad.mit.edu 36 10 105827221 105827221 + Silent SNP G G T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 10 105827221 105827221 G T SNP COL17A1 NM_000494 human genbank 54_36p -1 reviewed silent c.151 p.R51 0.99 NULL HMMPfam_Collagen - no_errors C10orf79 80217 broad.mit.edu 36 10 105910856 105910856 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 105910856 105910856 C T SNP C10orf79 NM_025145 human genbank 54_36p -1 predicted missense c.3469 p.E1157K 1 superfamily_WD40 repeat-like superfamily_WD40 repeat-like - no_errors C10orf79 80217 broad.mit.edu 36 10 105980449 105980449 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 105980449 105980449 C T SNP C10orf79 NM_025145 human genbank 54_36p -1 predicted missense c.208 p.V70I 1 superfamily_WD40 repeat-like superfamily_WD40 repeat-like - no_errors GSTO2 119391 broad.mit.edu 36 10 106047396 106047396 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 106047396 106047396 C T SNP GSTO2 NM_183239 human genbank 54_36p 1 provisional missense c.539 p.P180L 1 superfamily_GST_C_like "superfamily_Thiordxn-like_fd,HMMPfam_GST_N,superfamily_GST_C_like" - no_errors CCDC147 159686 broad.mit.edu 36 10 106111810 106111810 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 106111810 106111810 G T SNP CCDC147 NM_001008723 human genbank 54_36p 1 validated missense c.331 p.D111Y 1 NULL NULL - no_errors CCDC147 159686 broad.mit.edu 36 10 106142137 106142137 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 106142137 106142137 G T SNP CCDC147 NM_001008723 human genbank 54_36p 1 validated missense c.1522 p.A508S 1 NULL NULL - no_errors SORCS3 22986 broad.mit.edu 36 10 106592572 106592572 + Silent SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 106592572 106592572 C T SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed silent c.660 p.F220 1 "superfamily_SSF110296,HMMSmart_VPS10" "superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD" - no_errors SORCS3 22986 broad.mit.edu 36 10 106665682 106665682 + Splice_Site SNP T T C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 10 106665682 106665682 T C SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed splice_site c.795+2 e3+2 1 - - - no_errors SORCS3 22986 broad.mit.edu 36 10 107012096 107012096 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 107012096 107012096 A T SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed missense c.3461 p.N1154I 1 NULL "HMMPfam_PKD,superfamily_PKD,HMMSmart_VPS10,superfamily_SSF110296" - no_errors SORCS1 114815 broad.mit.edu 36 10 108913985 108913986 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 108913985 108913986 GC AA DNP SORCS1 NM_001013031 human genbank 54_36p -1 reviewed missense c.290_289 p.A97L 0.000:0.000 NULL "superfamily_SSF110296,HMMSmart_VPS10,HMMSmart_PKD,superfamily_PKD,HMMPfam_PKD" - no_errors ADD3 120 broad.mit.edu 36 10 111869023 111869023 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 111869023 111869023 C T SNP ADD3 NM_016824 human genbank 54_36p 1 reviewed missense c.782 p.A261V 1 "superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II" "superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II" - no_errors DUSP5 1847 broad.mit.edu 36 10 112259970 112259970 + Silent SNP C C A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 112259970 112259970 C A SNP DUSP5 NM_004419 human genbank 54_36p 1 reviewed silent c.951 p.I317 1 superfamily_SSF52799 "superfamily_Rhodanese-like,HMMSmart_RHOD,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors PDCD4 27250 broad.mit.edu 36 10 112631165 112631165 + Silent SNP G G T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 112631165 112631165 G T SNP PDCD4 NM_014456 human genbank 54_36p 1 reviewed silent c.228 p.S76 0.25 NULL "HMMPfam_MA3,HMMSmart_SM00544" - no_errors SHOC2 8036 broad.mit.edu 36 10 112714797 112714797 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 112714797 112714797 C T SNP SHOC2 NM_007373 human genbank 54_36p 1 validated missense c.691 p.P231S 1 "superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors GPAM 57678 broad.mit.edu 36 10 113923546 113923546 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 113923546 113923546 C A SNP GPAM NM_020918 human genbank 54_36p -1 validated missense c.461 p.G154V 0.16 NULL "superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC" - no_errors TECTB 6975 broad.mit.edu 36 10 114036084 114036084 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 114036084 114036084 T C SNP TECTB NM_058222 human genbank 54_36p 1 provisional missense c.428 p.V143A 1 "HMMPfam_Zona_pellucida,HMMSmart_ZP" "HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1" - no_errors TCF7L2 6934 broad.mit.edu 36 10 114895812 114895812 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 114895812 114895812 C A SNP TCF7L2 NM_030756 human genbank 54_36p 1 validated missense c.772 p.P258T 1 NULL "HMMPfam_CTNNB1_binding,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors HABP2 3026 broad.mit.edu 36 10 115327852 115327852 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 115327852 115327852 T G SNP HABP2 NM_004132 human genbank 54_36p 1 reviewed missense c.526 p.C176G 0.93 "HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_Kringle-like,PatternScan_EGF_1" ############################################################################################################################################################################################################################################################### - no_errors NRAP 4892 broad.mit.edu 36 10 115367224 115367224 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 115367224 115367224 T C SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.2953 p.S985G 1 "HMMSmart_SM00227,HMMPfam_Nebulin" "HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,HMMSmart_SM00227,HMMPfam_Nebulin" - no_errors C10orf118 55088 broad.mit.edu 36 10 115907399 115907399 + Silent SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 115907399 115907399 C T SNP C10orf118 NM_018017 human genbank 54_36p -1 validated silent c.663 p.E221 0.95 NULL superfamily_Prefoldin - no_errors VWA2 340706 broad.mit.edu 36 10 116027764 116027764 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 116027764 116027764 G T SNP VWA2 NM_198496 human genbank 54_36p 1 provisional missense c.668 p.S223I 0.03 "superfamily_SSF53300,HMMSmart_VWA" "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF" - no_errors VWA2 340706 broad.mit.edu 36 10 116038746 116038746 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 116038746 116038746 C A SNP VWA2 NM_198496 human genbank 54_36p 1 provisional missense c.1630 p.P544T 0.02 "HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300" "HMMPfam_VWA,HMMSmart_VWA,HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF53300,superfamily_SSF57196" - no_errors ATRNL1 26033 broad.mit.edu 36 10 117016300 117016300 + Silent SNP C C T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 117016300 117016300 C T SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated silent c.1809 p.L603 0.94 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1" ############################################################################################################################################################################################################################################################### - no_errors ATRNL1 26033 broad.mit.edu 36 10 117016428 117016428 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 117016428 117016428 G T SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated missense c.1937 p.G646V 0.99 "HMMSmart_SM00423,superfamily_Plexin repeat" ############################################################################################################################################################################################################################################################### - no_errors ATRNL1 26033 broad.mit.edu 36 10 117030924 117030924 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 117030924 117030924 A T SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated missense c.2170 p.S724C 1 "HMMPfam_PSI,HMMSmart_SM00423" ############################################################################################################################################################################################################################################################### - no_errors GFRA1 2674 broad.mit.edu 36 10 117846194 117846194 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 117846194 117846194 T A SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed missense c.842 p.N281I 1 "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" - no_errors GFRA1 2674 broad.mit.edu 36 10 117961132 117961132 + Splice_Site SNP C C A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 10 117961132 117961132 C A SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed splice_site c.433+1 e4+1 1 - - - no_errors C10orf96 374355 broad.mit.edu 36 10 118091583 118091583 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 118091583 118091583 A C SNP C10orf96 NM_198515 human genbank 54_36p 1 validated missense c.328 p.K110Q 1 NULL NULL - no_errors PNLIPRP3 119548 broad.mit.edu 36 10 118210534 118210534 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 118210534 118210534 C G SNP PNLIPRP3 NM_001011709 human genbank 54_36p 1 validated missense c.632 p.A211G 0.99 "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,PatternScan_HMG_COA_REDUCTASE_1" - no_errors PNLIP 5406 broad.mit.edu 36 10 118305559 118305559 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 118305559 118305559 G C SNP PNLIP NM_000936 human genbank 54_36p 1 reviewed missense c.869 p.S290T 1 "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors HSPA12A 259217 broad.mit.edu 36 10 118424738 118424738 + Silent SNP G G A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 118424738 118424738 G A SNP HSPA12A NM_025015 human genbank 54_36p -1 validated silent c.1572 p.D524 1 NULL "PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF53067" - no_errors KCNK18 338567 broad.mit.edu 36 10 118950726 118950726 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 118950726 118950726 G T SNP KCNK18 NM_181840 human genbank 54_36p 1 provisional missense c.290 p.R97M 0 "superfamily_SSF81324,HMMPfam_Ion_trans_2" "superfamily_SSF81324,HMMPfam_Ion_trans_2" - no_errors EMX2 2018 broad.mit.edu 36 10 119292944 119292944 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 119292944 119292944 C T SNP EMX2 NM_004098 human genbank 54_36p 1 validated missense c.176 p.A59V 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PRLHR 2834 broad.mit.edu 36 10 120343884 120343884 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 120343884 120343884 G T SNP PRLHR NM_004248 human genbank 54_36p -1 validated missense c.863 p.A288D 0.67 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors C10orf46 143384 broad.mit.edu 36 10 120504057 120504057 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 120504057 120504057 G C SNP C10orf46 NM_153810 human genbank 54_36p -1 validated missense c.208 p.P70A 0.99 NULL "superfamily_Cullin repeat,HMMPfam_Cullin" - no_errors FAM45A 404636 broad.mit.edu 36 10 120873066 120873066 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 120873066 120873066 G A SNP FAM45A NM_207009 human genbank 54_36p 1 validated missense c.689 p.C230Y 1 NULL NULL - no_errors FAM45A 404636 broad.mit.edu 36 10 120882025 120882025 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 120882025 120882025 G A SNP FAM45A NM_207009 human genbank 54_36p 1 validated missense c.811 p.A271T 1 NULL NULL - no_errors TIAL1 7073 broad.mit.edu 36 10 121331469 121331469 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 121331469 121331469 G A SNP TIAL1 NM_001033925 human genbank 54_36p -1 reviewed missense c.377 p.T126I 0.99 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors INPP5F 22876 broad.mit.edu 36 10 121561360 121561360 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 121561360 121561360 G A SNP INPP5F NM_014937 human genbank 54_36p 1 reviewed missense c.1789 p.E597K 1 NULL HMMPfam_Syja_N - no_errors C10orf119 79892 broad.mit.edu 36 10 121602679 121602679 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 121602679 121602679 G C SNP C10orf119 NM_024834 human genbank 54_36p -1 validated missense c.447 p.N149K 1 HMMPfam_DUF2044 HMMPfam_DUF2044 - no_errors SEC23IP 11196 broad.mit.edu 36 10 121675724 121675724 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 121675724 121675724 G A SNP SEC23IP NM_007190 human genbank 54_36p 1 reviewed missense c.2308 p.G770R 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD" - no_errors PPAPDC1A 196051 broad.mit.edu 36 10 122324720 122324720 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 122324720 122324720 G A SNP PPAPDC1A NM_001030059 human genbank 54_36p 1 validated missense c.533 p.R178Q 1 "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMSmart_SM00014,HMMPfam_PAP2" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMSmart_SM00014,HMMPfam_PAP2" - no_errors TACC2 10579 broad.mit.edu 36 10 123893177 123893177 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 123893177 123893177 C G SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.5800 p.P1934A 0 NULL HMMPfam_TACC - no_errors TACC2 10579 broad.mit.edu 36 10 123999132 123999132 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 123999132 123999132 T C SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.8744 p.L2915P 1 HMMPfam_TACC HMMPfam_TACC - no_errors DMBT1 1755 broad.mit.edu 36 10 124367800 124367800 + Silent SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 124367800 124367800 C T SNP DMBT1 NM_007329 human genbank 54_36p 1 reviewed silent c.4782 p.L1594 0.01 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors DMBT1 1755 broad.mit.edu 36 10 124380539 124380539 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 124380539 124380539 G T SNP DMBT1 NM_007329 human genbank 54_36p 1 reviewed missense c.5711 p.G1904V 0 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Zona_pellucida,HMMSmart_SM00241,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_ZP_1" - no_errors CUZD1 50624 broad.mit.edu 36 10 124588689 124588689 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 124588689 124588689 G A SNP CUZD1 NM_022034 human genbank 54_36p -1 provisional silent c.282 p.D94 0.98 "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB" "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB,HMMPfam_Zona_pellucida,HMMSmart_SM00241" - no_errors ACADSB 36 broad.mit.edu 36 10 124790132 124790132 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 124790132 124790132 C G SNP ACADSB NM_001609 human genbank 54_36p 1 reviewed missense c.464 p.T155R 1 "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N" "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,HMMPfam_Acyl-CoA_dh_1,PatternScan_ACYL_COA_DH_2" - no_errors BUB3 9184 broad.mit.edu 36 10 124911860 124911860 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 124911860 124911860 A G SNP BUB3 NM_004725 human genbank 54_36p 1 reviewed missense c.695 p.E232G 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors CHST15 51363 broad.mit.edu 36 10 125759819 125759819 + Silent SNP A A G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 125759819 125759819 A G SNP GALNAC4S-6ST NM_015892 human genbank 54_36p -1 validated silent c.1522 p.L508 0.91 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors FAM53B 9679 broad.mit.edu 36 10 126360325 126360325 + Silent SNP T T G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 126360325 126360325 T G SNP FAM53B NM_014661 human genbank 54_36p -1 validated silent c.747 p.T249 0.86 NULL NULL - no_errors ZRANB1 54764 broad.mit.edu 36 10 126663340 126663340 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 126663340 126663340 A G SNP ZRANB1 NM_017580 human genbank 54_36p 1 validated missense c.1916 p.N639S 1 NULL "HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,superfamily_SSF90209,HMMPfam_OTU" - no_errors C10orf137 26098 broad.mit.edu 36 10 127404246 127404246 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 127404246 127404246 A G SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.641 p.N214S 1 NULL NULL - no_errors C10orf137 26098 broad.mit.edu 36 10 127414265 127414265 + Silent SNP A A G novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 127414265 127414265 A G SNP C10orf137 NM_015608 human genbank 54_36p 1 validated silent c.1458 p.E486 1 NULL NULL - no_errors C10orf137 26098 broad.mit.edu 36 10 127414447 127414447 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 127414447 127414447 C A SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.1640 p.S547Y 1 NULL NULL - no_errors C10orf137 26098 broad.mit.edu 36 10 127419175 127419175 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 127419175 127419175 C T SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.2033 p.A678V 1 NULL NULL - no_errors C10orf137 26098 broad.mit.edu 36 10 127426434 127426434 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 127426434 127426434 G T SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.2884 p.V962F 1 NULL NULL - no_errors MMP21 118856 broad.mit.edu 36 10 127450866 127450866 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 127450866 127450866 G A SNP MMP21 NM_147191 human genbank 54_36p -1 reviewed missense c.890 p.T297M 0.01 "HMMSmart_SM00235,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10" "superfamily_PGBD-like,HMMPfam_PG_binding_1,HMMSmart_SM00235,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" - no_errors DHX32 55760 broad.mit.edu 36 10 127516868 127516868 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 127516868 127516868 C A SNP DHX32 NM_018180 human genbank 54_36p -1 reviewed missense c.1960 p.G654C 0.01 HMMPfam_DUF1605 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors FANK1 92565 broad.mit.edu 36 10 127687025 127687025 + Silent SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 127687025 127687025 G A SNP FANK1 NM_145235 human genbank 54_36p 1 validated silent c.765 p.S255 0.07 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank" - no_errors DOCK1 1793 broad.mit.edu 36 10 128687675 128687675 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 128687675 128687675 C T SNP DOCK1 ENST00000398025 human ensembl 54_36p 1 known nonsense c.835 p.R279* 1 NULL "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Cytochrome_c" - no_errors DOCK1 1793 broad.mit.edu 36 10 128815893 128815928 + Splice_Site DEL GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA - GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 128815893 128815928 GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA - DEL DOCK1 ENST00000398025 human ensembl 54_36p 1 known splice_site_del c.2689-30_2689-1 e27-1 0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.004:0.148:0.170:0.185:0.001:0.001:0.002:0.000:0.000:0.000:0.001:0.002:0.037:0.058:0.111:0.216:0.168:0.136:0.115:0.083:0.992:1.000:1.000:1.000:0.998:0.539:0.965:0.966:0.644 - - "(deletion:intron[128813856,128815922], cds_exon[128815923,128816018])" no_errors FAM196A 642938 broad.mit.edu 36 10 128864373 128864373 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 128864373 128864373 G A SNP C10orf141 NM_001039762 human genbank 54_36p -1 validated missense c.277 p.R93C 1 NULL NULL - no_errors DOCK1 1793 broad.mit.edu 36 10 129097358 129097359 + Missense_Mutation DNP CT CT AG novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 129097358 129097359 CT AG DNP DOCK1 ENST00000398025 human ensembl 54_36p 1 known missense c.4325_4326 p.T1442K 1.000:0.999 NULL "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,superfamily_Cytochrome_c" - no_errors MKI67 4288 broad.mit.edu 36 10 129797435 129797435 + Silent SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 129797435 129797435 G A SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed silent c.2659 p.L887 0 NULL "HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain,HMMPfam_K167R" - no_errors MGMT 4255 broad.mit.edu 36 10 131396251 131396251 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 131396251 131396251 C T SNP MGMT NM_002412 human genbank 54_36p 1 validated silent c.228 p.I76 0 "HMMPfam_Methyltransf_1N,superfamily_SSF53155" "HMMPfam_Methyltransf_1N,superfamily_SSF53155,superfamily_MethylDNA_cys_mtrans_DNA_bd,HMMPfam_DNA_binding_1,PatternScan_MGMT" - no_errors EBF3 253738 broad.mit.edu 36 10 131647189 131647189 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 131647189 131647189 T C SNP EBF3 NM_001005463 human genbank 54_36p -1 validated missense c.484 p.S162G 1 PatternScan_COE "PatternScan_COE,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors TCERG1L 256536 broad.mit.edu 36 10 132996519 132996519 + Silent SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 132996519 132996519 C T SNP TCERG1L NM_174937 human genbank 54_36p -1 validated silent c.615 p.P205 0.87 NULL "PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,superfamily_FF,HMMSmart_FF,HMMPfam_FF" - no_errors JAKMIP3 282973 broad.mit.edu 36 10 133817298 133817298 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 133817298 133817298 A G SNP JAKMIP3 NM_001105521 human genbank 54_36p 1 provisional missense c.2113 p.M705V 1 NULL NULL - no_errors DPYSL4 10570 broad.mit.edu 36 10 133858397 133858398 + Missense_Mutation DNP GG GG AA novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 133858397 133858398 GG AA DNP DPYSL4 NM_006426 human genbank 54_36p 1 validated missense c.372_373 p.E125K 0.988:0.994 "superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases" "superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases" - no_errors C10orf91 170393 broad.mit.edu 36 10 134111455 134111455 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 134111455 134111455 A G SNP C10orf91 NM_173541 human genbank 54_36p 1 validated missense c.338 p.D113G 0.03 NULL NULL - no_errors TUBGCP2 10844 broad.mit.edu 36 10 134945817 134945817 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 134945817 134945817 T C SNP TUBGCP2 NM_006659 human genbank 54_36p -1 validated missense c.2309 p.K770R 0.91 NULL HMMPfam_Spc97_Spc98 - no_errors TUBGCP2 10844 broad.mit.edu 36 10 134953410 134953410 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 10 134953410 134953410 T C SNP TUBGCP2 NM_006659 human genbank 54_36p -1 validated missense c.1268 p.Y423C 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors ZNF511 118472 broad.mit.edu 36 10 134973378 134973378 + Silent SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 134973378 134973378 C T SNP ZNF511 NM_145806 human genbank 54_36p 1 provisional silent c.336 p.C112 0.99 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ECHS1 1892 broad.mit.edu 36 10 135030489 135030489 + Splice_Site SNP T T A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 135030489 135030489 T A SNP ECHS1 NM_004092 human genbank 54_36p -1 reviewed splice_site c.515-2 e5-2 1 - - - no_errors MTG1 92170 broad.mit.edu 36 10 135082980 135082980 + Silent SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 135082980 135082980 G C SNP MTG1 NM_138384 human genbank 54_36p 1 validated silent c.759 p.V253 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1" - no_errors CYP2E1 1571 broad.mit.edu 36 10 135192003 135192003 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 135192003 135192003 C G SNP CYP2E1 NM_000773 human genbank 54_36p 1 reviewed missense c.206 p.T69R 0.97 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors FRG2B 441581 broad.mit.edu 36 10 135288790 135288790 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 10 135288790 135288790 G A SNP FRG2B NM_001080998 human genbank 54_36p -1 provisional missense c.640 p.R214W 0.99 NULL NULL - no_errors ODF3 113746 broad.mit.edu 36 11 187577 187577 + Silent SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 187577 187577 G A SNP ODF3 NM_053280 human genbank 54_36p 1 provisional silent c.126 p.T42 0.99 NULL HMMPfam_DUF1309 - no_errors PSMD13 5719 broad.mit.edu 36 11 237370 237370 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 237370 237370 C G SNP PSMD13 NM_175932 human genbank 54_36p 1 validated missense c.496 p.Q166E 1 NULL "HMMPfam_PCI,HMMSmart_PINT,superfamily_SSF46785" - no_errors B4GALNT4 338707 broad.mit.edu 36 11 366331 366331 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 366331 366331 T A SNP B4GALNT4 NM_178537 human genbank 54_36p 1 provisional missense c.1277 p.F426Y 1 NULL "HMMSmart_PA14,HMMPfam_PA14,HMMPfam_CHGN,superfamily_SSF53448" - no_errors ANO9 338440 broad.mit.edu 36 11 423411 423411 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 423411 423411 T C SNP ANO9 NM_001012302 human genbank 54_36p -1 validated missense c.253 p.S85G 0 NULL HMMPfam_DUF590 - no_errors PHRF1 57661 broad.mit.edu 36 11 596502 596502 + Silent SNP G G T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 596502 596502 G T SNP PHRF1 NM_020901 human genbank 54_36p 1 validated silent c.1515 p.L505 0.99 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,PatternScan_ZF_PHD_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD" - no_errors PHRF1 57661 broad.mit.edu 36 11 598503 598514 + In_Frame_Del DEL GGACGCGCTCTG - GGACGCGCTCTG novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W GGACGCGCTCTG GGACGCGCTCTG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 598503 598514 GGACGCGCTCTG - DEL PHRF1 NM_020901 human genbank 54_36p 1 validated in_frame_del c.3047_3058 p.GTRS1020in_frame_del 0.001:0.000:0.000:0.002:0.000:0.002:0.000:0.000:0.002:0.003:0.000:0.001 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,PatternScan_ZF_PHD_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD" "(deletion:cds_exon[597066,599720])" no_errors CDHR5 53841 broad.mit.edu 36 11 611393 611393 + Silent SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 611393 611393 G A SNP MUPCDH NM_021924 human genbank 54_36p -1 reviewed silent c.570 p.P190 0 "superfamily_Cadherin-like,HMMSmart_SM00112" "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors CHID1 66005 broad.mit.edu 36 11 890012 890012 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 890012 890012 C G SNP CHID1 NM_023947 human genbank 54_36p -1 validated missense c.538 p.V180L 0.99 "HMMSmart_SM00636,superfamily_(Trans)glycosidases" "HMMSmart_SM00636,superfamily_(Trans)glycosidases,HMMPfam_Glyco_hydro_18" - no_errors AP2A2 161 broad.mit.edu 36 11 984220 984220 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 984220 984220 C G SNP AP2A2 NM_012305 human genbank 54_36p 1 validated missense c.1931 p.P644R 0.91 NULL "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,HMMPfam_Alpha_adaptin_C,superfamily_Subdomain of clathrin and coatomer appendage domain" - no_errors MUC6 4588 broad.mit.edu 36 11 1008575 1008575 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1008575 1008575 G T SNP MUC6 NM_005961 human genbank 54_36p -1 validated missense c.4226 p.P1409Q 0 NULL "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00041" - no_errors MUC2 4583 broad.mit.edu 36 11 1072622 1072622 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1072622 1072622 A G SNP MUC2 ENST00000359061 human ensembl 54_36p 1 known missense c.1871 p.N624S 0 HMMPfam_C8 "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors" - no_stop_codon MUC2 4583 broad.mit.edu 36 11 1082891 1082891 + Silent SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1082891 1082891 C A SNP MUC2 ENST00000359061 human ensembl 54_36p 1 known silent c.4713 p.T1571 0.85 NULL "HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8" - no_stop_codon MUC5B 727897 broad.mit.edu 36 11 1204570 1204570 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 1204570 1204570 C A SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.349 p.Q117K 0.99 "HMMSmart_SM00216,HMMPfam_VWD" "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1" - no_errors MUC5B 727897 broad.mit.edu 36 11 1222407 1222407 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1222407 1222407 T C SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.7730 p.V2577A 0 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL" - no_errors MUC5B 727897 broad.mit.edu 36 11 1226973 1226978 + In_Frame_Del DEL CCACGG - CCACGG novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W CCACGG CCACGG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 1226973 1226978 CCACGG - DEL MUC5B NM_002458 human genbank 54_36p 1 validated in_frame_del c.12296_12301 p.AT4103in_frame_del 0.061:0.055:0.037:0.021:0.006:0.002 NULL "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1" "(deletion:cds_exon[1218657,1229549])" no_errors MUC5B 727897 broad.mit.edu 36 11 1227452 1227452 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1227452 1227452 A C SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.12775 p.T4259P 0 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL" - no_errors MUC5B 727897 broad.mit.edu 36 11 1229130 1229130 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1229130 1229130 C T SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.14453 p.T4818M 0 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL" - no_errors MOB2 81532 broad.mit.edu 36 11 1448161 1448161 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 1448161 1448161 C T SNP MOB2 NM_053005 human genbank 54_36p -1 provisional missense c.514 p.A172T 0.44 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KRTAP5-3 387266 broad.mit.edu 36 11 1586141 1586141 + Silent SNP A A G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 1586141 1586141 A G SNP KRTAP5-3 NM_001012708 human genbank 54_36p -1 validated silent c.51 p.C17 0.99 NULL "PatternScan_4FE4S_FER_1,PatternScan_VWFC_1" - no_errors KRTAP5-5 439915 broad.mit.edu 36 11 1608162 1608191 + In_Frame_Del DEL CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA - CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 1608162 1608191 CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA - DEL KRTAP5-5 NM_001001480 human genbank 54_36p 1 validated in_frame_del c.516_545 p.SSCCKPYCCQ176in_frame_del 0.004:0.034:0.035:0.031:0.041:0.050:0.053:0.060:0.079:0.129:0.209:0.999:1.000:1.000:1.000:0.998:0.975:0.901:0.121:0.080:0.069:0.063:0.018:0.002:0.000:0.004:0.013:0.075:0.166:0.439 NULL "PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_2FE2S_FER_1" "(deletion:cds_exon[1607647,1608360])" no_errors SYT8 90019 broad.mit.edu 36 11 1815036 1815036 + Silent SNP G G T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 1815036 1815036 G T SNP SYT8 NM_138567 human genbank 54_36p 1 validated silent c.1005 p.L335 0 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors MRPL23 6150 broad.mit.edu 36 11 1928740 1928740 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 1928740 1928740 G C SNP MRPL23 NM_021134 human genbank 54_36p 1 reviewed missense c.53 p.R18P 0.99 superfamily_L23_L15e_core "superfamily_L23_L15e_core,HMMPfam_Ribosomal_L23" - no_errors TSPAN32 10077 broad.mit.edu 36 11 2295678 2295679 + Missense_Mutation DNP GC GC TG novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 2295678 2295679 GC TG DNP TSPAN32 NM_139022 human genbank 54_36p 1 reviewed missense c.1016_1017 p.G339V 0.008:0.018 NULL "HMMPfam_Tetraspannin,superfamily_Tetraspanin" - no_errors TRPM5 29850 broad.mit.edu 36 11 2389306 2389306 + Silent SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 2389306 2389306 G A SNP TRPM5 NM_014555 human genbank 54_36p -1 validated silent c.2634 p.F878 1 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors KCNQ1 3784 broad.mit.edu 36 11 2825597 2825597 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 2825597 2825597 G C SNP KCNQ1 NM_000218 human genbank 54_36p 1 reviewed missense c.1819 p.A607P 0.97 HMMPfam_KCNQ_channel "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors SLC22A18 5002 broad.mit.edu 36 11 2902983 2902983 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 2902983 2902983 A T SNP SLC22A18 NM_183233 human genbank 54_36p 1 reviewed missense c.1255 p.R419W 0 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors CARS 833 broad.mit.edu 36 11 2984708 2984708 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 11 2984708 2984708 C A SNP CARS NM_001014437 human genbank 54_36p -1 reviewed missense c.2126 p.G709V 1 NULL "HMMPfam_tRNA-synt_1e,superfamily_SSF52374" - no_errors MRGPRE 116534 broad.mit.edu 36 11 3206566 3206566 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 3206566 3206566 C T SNP MRGPRE NM_001039165 human genbank 54_36p -1 validated missense c.37 p.A13T 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors ART5 116969 broad.mit.edu 36 11 3617997 3617997 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 3617997 3617997 G A SNP ART5 NM_001079536 human genbank 54_36p -1 reviewed nonsense c.238 p.R80* 0 "superfamily_ADP-ribosylation,HMMPfam_ART" "superfamily_ADP-ribosylation,HMMPfam_ART,PatternScan_ART" - no_errors CHRNA10 57053 broad.mit.edu 36 11 3644188 3644188 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 3644188 3644188 A G SNP CHRNA10 NM_020402 human genbank 54_36p -1 provisional missense c.1078 p.S360P 0 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors C11orf40 143501 broad.mit.edu 36 11 4551123 4551123 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4551123 4551123 G T SNP C11orf40 NM_144663 human genbank 54_36p -1 predicted nonsense c.297 p.C99* 0 NULL NULL - no_errors OR52I1 390037 broad.mit.edu 36 11 4572239 4572239 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4572239 4572239 A G SNP OR52I1 NM_001005169 human genbank 54_36p 1 provisional missense c.395 p.K132R 0.95 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51E2 81285 broad.mit.edu 36 11 4659803 4659803 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4659803 4659803 T C SNP OR51E2 NM_030774 human genbank 54_36p -1 validated missense c.715 p.T239A 0.99 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51F1 256892 broad.mit.edu 36 11 4747057 4747057 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4747057 4747057 T C SNP OR51F1 NM_001004752 human genbank 54_36p -1 provisional missense c.667 p.I223V 0.55 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51F2 119694 broad.mit.edu 36 11 4800137 4800137 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4800137 4800137 G A SNP OR51F2 NM_001004753 human genbank 54_36p 1 provisional missense c.946 p.A316T 0.02 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51S1 119692 broad.mit.edu 36 11 4826625 4826625 + Silent SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4826625 4826625 C G SNP OR51S1 NM_001004758 human genbank 54_36p -1 provisional silent c.390 p.R130 0.04 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "PatternScan_SPASE_I_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR51T1 401665 broad.mit.edu 36 11 4860131 4860131 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 4860131 4860131 G A SNP OR51T1 NM_001004759 human genbank 54_36p 1 provisional missense c.507 p.M169I 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51G1 79324 broad.mit.edu 36 11 4901485 4901485 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 4901485 4901485 C T SNP OR51G1 NM_001005237 human genbank 54_36p -1 provisional missense c.661 p.A221T 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52E2 119678 broad.mit.edu 36 11 5036540 5036540 + Silent SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5036540 5036540 C T SNP OR52E2 NM_001005164 human genbank 54_36p -1 provisional silent c.894 p.K298 0.28 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR52E2 119678 broad.mit.edu 36 11 5037170 5037170 + Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5037170 5037170 C T SNP OR52E2 NM_001005164 human genbank 54_36p -1 provisional nonsense c.264 p.W88* 0.69 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR52A4 390053 broad.mit.edu 36 11 5098539 5098539 + Silent SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5098539 5098539 G C SNP OR52A4 NM_001005222 human genbank 54_36p -1 provisional silent c.846 p.V282 0.03 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52A4 390053 broad.mit.edu 36 11 5098948 5098948 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 5098948 5098948 G T SNP OR52A4 NM_001005222 human genbank 54_36p -1 provisional missense c.437 p.T146N 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR52A4 390053 broad.mit.edu 36 11 5099082 5099082 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5099082 5099082 G C SNP OR52A4 NM_001005222 human genbank 54_36p -1 provisional missense c.303 p.C101W 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors HBD 3045 broad.mit.edu 36 11 5211992 5211992 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5211992 5211992 C G SNP HBD NM_000519 human genbank 54_36p -1 reviewed missense c.120 p.Q40H 1 "superfamily_Globin-like,HMMPfam_Globin" "superfamily_Globin-like,HMMPfam_Globin" - no_errors OR51B2 79345 broad.mit.edu 36 11 5301308 5301308 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5301308 5301308 C T SNP OR51B2 NM_033180 human genbank 54_36p -1 validated missense c.796 p.V266M 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR51B6 390058 broad.mit.edu 36 11 5329645 5329645 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5329645 5329645 G A SNP OR51B6 NM_001004750 human genbank 54_36p 1 provisional missense c.332 p.G111D 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR51Q1 390061 broad.mit.edu 36 11 5400269 5400269 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5400269 5400269 G T SNP OR51Q1 NM_001004757 human genbank 54_36p 1 provisional missense c.263 p.W88L 0.07 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors UBQLN3 50613 broad.mit.edu 36 11 5485405 5485405 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 5485405 5485405 G C SNP UBQLN3 NM_017481 human genbank 54_36p -1 reviewed missense c.1960 p.Q654E 0.36 "superfamily_UBA_like,HMMSmart_UBA" "PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin,HMMSmart_STI1,superfamily_UBA_like,HMMSmart_UBA,HMMPfam_UBA" - no_errors UBQLN3 50613 broad.mit.edu 36 11 5486049 5486049 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5486049 5486049 G A SNP UBQLN3 NM_017481 human genbank 54_36p -1 reviewed missense c.1316 p.T439I 0 NULL "HMMPfam_UBA,HMMPfam_ubiquitin,HMMSmart_UBQ,HMMSmart_STI1,superfamily_UBA_like,HMMSmart_UBA,PatternScan_UBIQUITIN_1,superfamily_SSF54236" - no_errors OR52B6 340980 broad.mit.edu 36 11 5559626 5559626 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5559626 5559626 G T SNP OR52B6 NM_001005162 human genbank 54_36p 1 validated missense c.944 p.R315M 0.99 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors TRIM6-TRIM34 445372 broad.mit.edu 36 11 5610315 5610315 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5610315 5610315 G C SNP TRIM6-TRIM34 NM_001003819 human genbank 54_36p 1 reviewed missense c.1240 p.G414R 0.04 superfamily_SSF57850 "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors TRIM5 85363 broad.mit.edu 36 11 5657570 5657570 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 5657570 5657570 G T SNP TRIM5 NM_033034 human genbank 54_36p -1 reviewed nonsense c.414 p.Y138* 0.85 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors TRIM5 85363 broad.mit.edu 36 11 5657862 5657862 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5657862 5657862 G A SNP TRIM5 NM_033034 human genbank 54_36p -1 reviewed missense c.122 p.A41V 0 "HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box" "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,HMMPfam_SPRY,PatternScan_ZF_RING_1,HMMSmart_SM00449,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors OR52N4 390072 broad.mit.edu 36 11 5732659 5732659 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 5732659 5732659 T A SNP OR52N4 NM_001005175 human genbank 54_36p 1 validated missense c.113 p.V38D 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52N5 390075 broad.mit.edu 36 11 5756083 5756083 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 5756083 5756083 C A SNP OR52N5 NM_001001922 human genbank 54_36p -1 provisional nonsense c.358 p.E120* 0.44 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52N2 390077 broad.mit.edu 36 11 5798297 5798332 + In_Frame_Del DEL CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT - CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT - - CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 5798297 5798332 CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT - DEL OR52N2 NM_001005174 human genbank 54_36p 1 provisional in_frame_del c.156_191 p.HEEALHRPMYYF53in_frame_del 0.000:0.001:0.088:0.225:0.230:0.298:0.200:0.189:0.174:0.061:0.052:0.060:0.082:0.966:0.999:0.998:1.000:0.987:0.213:0.176:0.201:0.269:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.994:0.993:0.975:0.984:0.981 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[5798142,5799107])" no_errors OR52E4 390081 broad.mit.edu 36 11 5862716 5862716 + Silent SNP T T C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 5862716 5862716 T C SNP OR52E4 NM_001005165 human genbank 54_36p 1 provisional silent c.618 p.S206 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR56A1 120796 broad.mit.edu 36 11 6005489 6005489 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 6005489 6005489 G T SNP OR56A1 NM_001001917 human genbank 54_36p -1 provisional missense c.22 p.P8T 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors C11orf42 160298 broad.mit.edu 36 11 6188834 6188834 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 6188834 6188834 G A SNP C11orf42 NM_173525 human genbank 54_36p 1 predicted missense c.988 p.D330N 1 NULL NULL - no_errors FAM160A2 84067 broad.mit.edu 36 11 6195856 6195856 + Silent SNP A A C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 6195856 6195856 A C SNP FAM160A2 NM_032127 human genbank 54_36p -1 validated silent c.1578 p.G526 1 NULL HMMPfam_RAI16-like - no_errors SMPD1 6609 broad.mit.edu 36 11 6372317 6372317 + Silent SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 6372317 6372317 T G SNP SMPD1 NM_000543 human genbank 54_36p 1 reviewed silent c.1800 p.S600 0.97 NULL "superfamily_Saposin,HMMSmart_SM00741,HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases" - no_errors TRIM3 10612 broad.mit.edu 36 11 6434785 6434785 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6434785 6434785 G A SNP TRIM3 NM_006458 human genbank 54_36p -1 reviewed silent c.747 p.G249 0.98 HMMSmart_SM00502 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557,superfamily_NHL repeat,HMMPfam_NHL" - no_errors DNHD1 144132 broad.mit.edu 36 11 6548900 6548900 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6548900 6548900 C G SNP uc001mec.1 ENST00000354346 human ensembl 54_36p 1 known missense c.2653 p.L885V 0.99 HMMPfam_Dynein_heavy HMMPfam_Dynein_heavy - no_start_codon RRP8 23378 broad.mit.edu 36 11 6581246 6581246 + Silent SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 6581246 6581246 G T SNP RRP8 NM_015324 human genbank 54_36p -1 provisional silent c.63 p.I21 0 NULL "HMMPfam_Methyltransf_8,superfamily_SSF53335" - no_errors DCHS1 8642 broad.mit.edu 36 11 6603232 6603232 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6603232 6603232 G T SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.6919 p.P2307T 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" - no_errors DCHS1 8642 broad.mit.edu 36 11 6609533 6609533 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6609533 6609533 G T SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.3565 p.P1189T 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors DCHS1 8642 broad.mit.edu 36 11 6617809 6617809 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6617809 6617809 A T SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.1612 p.Y538N 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors OR2AG2 338755 broad.mit.edu 36 11 6745955 6745955 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6745955 6745955 T G SNP OR2AG2 NM_001004490 human genbank 54_36p -1 provisional missense c.810 p.Q270H 0.12 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR6A2 8590 broad.mit.edu 36 11 6772720 6772720 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6772720 6772720 G A SNP OR6A2 NM_003696 human genbank 54_36p -1 provisional missense c.796 p.R266W 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6A2 8590 broad.mit.edu 36 11 6773415 6773415 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 6773415 6773415 A G SNP OR6A2 NM_003696 human genbank 54_36p -1 provisional missense c.101 p.L34P 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR10A5 144124 broad.mit.edu 36 11 6824073 6824073 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6824073 6824073 T A SNP OR10A5 NM_178168 human genbank 54_36p 1 provisional missense c.584 p.L195Q 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10A4 283297 broad.mit.edu 36 11 6854698 6854698 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 6854698 6854698 A T SNP OR10A4 NM_207186 human genbank 54_36p 1 provisional missense c.244 p.M82L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF215 7762 broad.mit.edu 36 11 6920968 6920968 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 6920968 6920968 C G SNP ZNF215 NM_013250 human genbank 54_36p 1 validated missense c.562 p.L188V 0.89 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NLRP14 338323 broad.mit.edu 36 11 7021026 7021026 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7021026 7021026 C A SNP NLRP14 NM_176822 human genbank 54_36p 1 reviewed missense c.1193 p.A398D 0 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047" - no_errors NLRP14 338323 broad.mit.edu 36 11 7027589 7027589 + Silent SNP A A T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7027589 7027589 A T SNP NLRP14 NM_176822 human genbank 54_36p 1 reviewed silent c.2235 p.G745 0.99 superfamily_SSF52047 "HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors PPFIBP2 8495 broad.mit.edu 36 11 7627461 7627461 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7627461 7627461 G C SNP PPFIBP2 NM_003621 human genbank 54_36p 1 validated missense c.2121 p.E707D 1 superfamily_SAM/Pointed domain "HMMPfam_Integrase_DNA,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors OR5P2 120065 broad.mit.edu 36 11 7774747 7774747 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7774747 7774747 C T SNP OR5P2 NM_153444 human genbank 54_36p -1 provisional missense c.319 p.E107K 0.11 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5P2 120065 broad.mit.edu 36 11 7774842 7774842 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7774842 7774842 G T SNP OR5P2 NM_153444 human genbank 54_36p -1 provisional missense c.224 p.P75H 0.96 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors NLRP10 338322 broad.mit.edu 36 11 7941372 7941372 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7941372 7941372 G T SNP NLRP10 NM_176821 human genbank 54_36p -1 reviewed missense c.247 p.L83M 0.97 "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN" "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT" - no_errors NLRP10 338322 broad.mit.edu 36 11 7941477 7941477 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 7941477 7941477 C T SNP NLRP10 NM_176821 human genbank 54_36p -1 reviewed missense c.142 p.E48K 0.94 "HMMPfam_PAAD_DAPIN,superfamily_DEATH_like" "HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52540" - no_errors RIC3 79608 broad.mit.edu 36 11 8088973 8088973 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 8088973 8088973 C G SNP RIC3 NM_024557 human genbank 54_36p -1 validated missense c.955 p.A319P 0.87 NULL NULL - no_errors ST5 6764 broad.mit.edu 36 11 8674574 8674574 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 8674574 8674574 C G SNP ST5 NM_005418 human genbank 54_36p -1 reviewed missense c.3268 p.E1090Q 1 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801" - no_errors C11orf16 56673 broad.mit.edu 36 11 8907627 8907627 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 8907627 8907627 A G SNP C11orf16 NM_020643 human genbank 54_36p -1 validated missense c.197 p.V66A 0 NULL NULL - no_errors SBF2 81846 broad.mit.edu 36 11 9767406 9767406 + Silent SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 9767406 9767406 C T SNP SBF2 NM_030962 human genbank 54_36p -1 reviewed silent c.4758 p.E1586 1 superfamily_(Phosphotyrosine protein) phosphatases II "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMPfam_PH,HMMSmart_SM00233" - no_errors SBF2 81846 broad.mit.edu 36 11 9834647 9834647 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 9834647 9834647 T G SNP SBF2 NM_030962 human genbank 54_36p -1 reviewed missense c.2297 p.N766T 1 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors SBF2 81846 broad.mit.edu 36 11 9834830 9834830 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 9834830 9834830 T A SNP SBF2 NM_030962 human genbank 54_36p -1 reviewed missense c.2114 p.D705V 0.31 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors ADM 133 broad.mit.edu 36 11 10284120 10284120 + Silent SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 10284120 10284120 C A SNP ADM NM_001124 human genbank 54_36p 1 reviewed silent c.147 p.S49 0.62 HMMPfam_Adrenomedullin HMMPfam_Adrenomedullin - no_errors MRVI1 10335 broad.mit.edu 36 11 10587885 10587885 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 10587885 10587885 G A SNP MRVI1 NM_001098579 human genbank 54_36p -1 reviewed missense c.1510 p.R504C 1 HMMPfam_MRVI1 HMMPfam_MRVI1 - no_errors CTR9 9646 broad.mit.edu 36 11 10756974 10756974 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 10756974 10756974 C T SNP CTR9 NM_014633 human genbank 54_36p 1 provisional missense c.3268 p.P1090S 0.91 NULL "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors EIF4G2 1982 broad.mit.edu 36 11 10777791 10777791 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 10777791 10777791 T G SNP EIF4G2 ENST00000379653 human ensembl 54_36p -1 known missense c.354 p.E118D 1 NULL "HMMPfam_MA3,superfamily_ARM repeat" - no_errors DKK3 27122 broad.mit.edu 36 11 11942730 11942730 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 11942730 11942730 C G SNP DKK3 NM_001018057 human genbank 54_36p -1 reviewed missense c.910 p.V304L 0 NULL HMMPfam_Dickkopf_N - no_errors MICAL2 9645 broad.mit.edu 36 11 12201551 12201551 + Silent SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 12201551 12201551 C T SNP MICAL2 NM_014632 human genbank 54_36p 1 provisional silent c.1467 p.I489 1 superfamily_Calponin-homology domain CH-domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors MICAL2 9645 broad.mit.edu 36 11 12220835 12220835 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 12220835 12220835 G C SNP MICAL2 NM_014632 human genbank 54_36p 1 provisional missense c.2598 p.K866N 1 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors MICALCL 84953 broad.mit.edu 36 11 12271730 12271730 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 12271730 12271730 G T SNP MICALCL NM_032867 human genbank 54_36p 1 validated missense c.176 p.S59I 0 NULL NULL - no_errors MICALCL 84953 broad.mit.edu 36 11 12272940 12272940 + Silent SNP T T C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 12272940 12272940 T C SNP MICALCL NM_032867 human genbank 54_36p 1 validated silent c.1386 p.P462 0.03 NULL NULL - no_errors MICALCL 84953 broad.mit.edu 36 11 12272940 12272940 + Silent SNP T T C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 12272940 12272940 T C SNP MICALCL NM_032867 human genbank 54_36p 1 validated silent c.1386 p.P462 0.03 NULL NULL - no_errors INSC 387755 broad.mit.edu 36 11 15090605 15090605 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 15090605 15090605 C T SNP INSC NM_001031853 human genbank 54_36p 1 provisional missense c.14 p.P5L 0.34 NULL "PatternScan_PA2_HIS,superfamily_ARM repeat,HMMSmart_SM00185" - no_errors SOX6 55553 broad.mit.edu 36 11 15951143 15951143 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 15951143 15951143 T C SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed missense c.2215 p.T739A 1 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors PIK3C2A 5286 broad.mit.edu 36 11 17079488 17079488 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 17079488 17079488 A C SNP PIK3C2A NM_002645 human genbank 54_36p -1 validated missense c.3921 p.I1307M 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146" ############################################################################################################################################################################################################################################################### - no_errors PIK3C2A 5286 broad.mit.edu 36 11 17114655 17114655 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 17114655 17114655 C T SNP PIK3C2A NM_002645 human genbank 54_36p -1 validated missense c.1798 p.V600I 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ABCC8 6833 broad.mit.edu 36 11 17375098 17375098 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 17375098 17375098 C A SNP ABCC8 NM_000352 human genbank 54_36p -1 reviewed missense c.4060 p.D1354Y 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors MRGPRX3 117195 broad.mit.edu 36 11 18115893 18115893 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 18115893 18115893 G T SNP MRGPRX3 NM_054031 human genbank 54_36p 1 provisional missense c.568 p.V190F 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HPS5 11234 broad.mit.edu 36 11 18261972 18261972 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 18261972 18261972 C T SNP HPS5 NM_181507 human genbank 54_36p -1 reviewed missense c.3004 p.A1002T 1 NULL superfamily_WD40 repeat-like - no_errors TMEM86A 144110 broad.mit.edu 36 11 18679776 18679776 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 18679776 18679776 G T SNP TMEM86A NM_153347 human genbank 54_36p 1 provisional missense c.367 p.V123L 1 HMMPfam_YhhN HMMPfam_YhhN - no_errors IGSF22 283284 broad.mit.edu 36 11 18696217 18696217 + Splice_Site SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 18696217 18696217 C G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated splice_site c.811-1 e8-1 0.81 - - - no_errors PTPN5 84867 broad.mit.edu 36 11 18710749 18710749 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 18710749 18710749 G A SNP PTPN5 NM_006906 human genbank 54_36p -1 validated missense c.1295 p.T432M 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors MRGPRX2 117194 broad.mit.edu 36 11 19034061 19034061 + Silent SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 19034061 19034061 G A SNP MRGPRX2 NM_054030 human genbank 54_36p -1 provisional silent c.465 p.A155 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NAV2 89797 broad.mit.edu 36 11 19927130 19927130 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 19927130 19927130 T A SNP NAV2 NM_182964 human genbank 54_36p 1 validated missense c.2642 p.M881K 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors SLC6A5 9152 broad.mit.edu 36 11 20606139 20606139 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 20606139 20606139 T C SNP SLC6A5 NM_004211 human genbank 54_36p 1 validated missense c.1433 p.L478S 0.93 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2,PatternScan_ASP_GLU_RACEMASE_1" - no_errors NELL1 4745 broad.mit.edu 36 11 20925491 20925491 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 20925491 20925491 C A SNP NELL1 NM_006157 human genbank 54_36p 1 reviewed missense c.1105 p.P369T 1 HMMSmart_SM00214 ############################################################################################################################################################################################################################################################### - no_errors NELL1 4745 broad.mit.edu 36 11 21091714 21091714 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 21091714 21091714 T A SNP NELL1 NM_006157 human genbank 54_36p 1 reviewed missense c.1304 p.I435N 1 "HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors ANO5 203859 broad.mit.edu 36 11 22250961 22250961 + Silent SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 22250961 22250961 T A SNP ANO5 NM_213599 human genbank 54_36p 1 validated silent c.2085 p.L695 0.94 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors LUZP2 338645 broad.mit.edu 36 11 24954714 24954714 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 24954714 24954714 C G SNP LUZP2 NM_001009909 human genbank 54_36p 1 validated missense c.524 p.A175G 1 NULL NULL - no_errors ANO3 63982 broad.mit.edu 36 11 26638567 26638567 + Silent SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 11 26638567 26638567 G A SNP ANO3 NM_031418 human genbank 54_36p 1 validated silent c.2946 p.*982 0.99 NULL HMMPfam_DUF590 - no_errors LGR4 55366 broad.mit.edu 36 11 27346024 27346024 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 27346024 27346024 C A SNP LGR4 NM_018490 human genbank 54_36p -1 validated missense c.2822 p.R941L 1 NULL "PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors KIF18A 81930 broad.mit.edu 36 11 28001961 28001961 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 28001961 28001961 G C SNP KIF18A NM_031217 human genbank 54_36p -1 validated missense c.2517 p.N839K 0.24 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF18A 81930 broad.mit.edu 36 11 28013557 28013557 + Silent SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 28013557 28013557 G A SNP KIF18A NM_031217 human genbank 54_36p -1 validated silent c.2457 p.S819 1 NULL "HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540" - no_errors METT5D1 196074 broad.mit.edu 36 11 28091605 28091605 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 28091605 28091605 G T SNP METT5D1 NM_152636 human genbank 54_36p 1 validated missense c.148 p.D50Y 0 NULL "superfamily_SSF53335,HMMPfam_Methyltransf_5,superfamily_SSF81799" - no_errors METT5D1 196074 broad.mit.edu 36 11 28091635 28091635 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 28091635 28091635 T G SNP METT5D1 NM_152636 human genbank 54_36p 1 validated missense c.178 p.S60A 0 NULL "HMMPfam_Methyltransf_5,superfamily_SSF53335,superfamily_SSF81799" - no_errors KCNA4 3739 broad.mit.edu 36 11 29990600 29990600 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 29990600 29990600 G C SNP KCNA4 NM_002233 human genbank 54_36p -1 reviewed missense c.202 p.R68G 0.88 HMMPfam_K_channel_TID "HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors FSHB 2488 broad.mit.edu 36 11 30210097 30210097 + Silent SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 30210097 30210097 C A SNP FSHB NM_000510 human genbank 54_36p 1 reviewed silent c.72 p.T24 1 "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501" "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2" - no_errors PAX6 5080 broad.mit.edu 36 11 31772162 31772162 + Silent SNP T T C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 31772162 31772162 T C SNP PAX6 NM_001604 human genbank 54_36p -1 reviewed silent c.801 p.R267 1 "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PAX6 5080 broad.mit.edu 36 11 31772909 31772909 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 31772909 31772909 C A SNP PAX6 NM_001604 human genbank 54_36p -1 reviewed missense c.569 p.G190V 1 NULL "HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1" - no_errors EIF3M 10480 broad.mit.edu 36 11 32565148 32565148 + Silent SNP T T G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 32565148 32565148 T G SNP EIF3M NM_006360 human genbank 54_36p 1 provisional silent c.57 p.R19 0.9 NULL "HMMPfam_PCI,HMMSmart_SM00088,superfamily_Winged helix DNA-binding domain" - no_errors CCDC73 493860 broad.mit.edu 36 11 32592523 32592523 + Silent SNP A A C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 32592523 32592523 A C SNP CCDC73 NM_001008391 human genbank 54_36p -1 validated silent c.1917 p.P639 0 NULL NULL - no_errors QSER1 79832 broad.mit.edu 36 11 32912214 32912214 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 32912214 32912214 G A SNP QSER1 NM_001076786 human genbank 54_36p 1 provisional missense c.2447 p.S816N 1 NULL NULL - no_errors QSER1 79832 broad.mit.edu 36 11 32913305 32913305 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 32913305 32913305 G C SNP QSER1 NM_001076786 human genbank 54_36p 1 provisional missense c.3538 p.G1180R 1 NULL NULL - no_errors DEPDC7 91614 broad.mit.edu 36 11 33011542 33011542 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 33011542 33011542 C A SNP DEPDC7 NM_001077242 human genbank 54_36p 1 validated missense c.1501 p.H501N 1 NULL "superfamily_Winged helix DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" - no_errors C11orf41 25758 broad.mit.edu 36 11 33520608 33520608 + Missense_Mutation SNP A A T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 33520608 33520608 A T SNP C11orf41 NM_012194 human genbank 54_36p 1 validated missense c.32 p.D11V 0 NULL NULL - no_errors C11orf41 25758 broad.mit.edu 36 11 33523082 33523082 + Silent SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 33523082 33523082 C T SNP C11orf41 NM_012194 human genbank 54_36p 1 validated silent c.2094 p.A698 0 NULL NULL - no_errors C11orf41 25758 broad.mit.edu 36 11 33546309 33546309 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 33546309 33546309 G A SNP C11orf41 NM_012194 human genbank 54_36p 1 validated missense c.3317 p.R1106Q 1 NULL NULL - no_errors TRIM44 54765 broad.mit.edu 36 11 35663409 35663410 + Missense_Mutation DNP CG CG TT novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 CG CG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 35663409 35663410 CG TT DNP TRIM44 NM_017583 human genbank 54_36p 1 reviewed missense c.696_697 p.A233S 0.971:0.995 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57845" - no_errors TRAF6 7189 broad.mit.edu 36 11 36468092 36468092 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 36468092 36468092 C T SNP TRAF6 NM_004620 human genbank 54_36p -1 reviewed missense c.1441 p.A481T 0.52 "superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH" "superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_Traf_like,HMMPfam_zf-TRAF,HMMSmart_MATH,HMMPfam_MATH" - no_errors TRAF6 7189 broad.mit.edu 36 11 36468137 36468137 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 36468137 36468137 G A SNP TRAF6 NM_004620 human genbank 54_36p -1 reviewed missense c.1396 p.R466W 1 "HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like" "HMMPfam_zf-TRAF,HMMSmart_RING,HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors RAG1 5896 broad.mit.edu 36 11 36554336 36554336 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 36554336 36554336 A C SNP RAG1 NM_000448 human genbank 54_36p 1 reviewed missense c.2906 p.K969T 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-RAG1" - no_errors LRRC4C 57689 broad.mit.edu 36 11 40093534 40093534 + Silent SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 40093534 40093534 C T SNP LRRC4C NM_020929 human genbank 54_36p -1 validated silent c.885 p.R295 1 superfamily_L domain-like "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" - no_errors LRRC4C 57689 broad.mit.edu 36 11 40094374 40094374 + Silent SNP A A C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 40094374 40094374 A C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated silent c.45 p.G15 1 superfamily_L domain-like "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors API5 8539 broad.mit.edu 36 11 43298958 43298958 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 43298958 43298958 A C SNP API5 NM_006595 human genbank 54_36p 1 validated missense c.243 p.Q81H 1 "HMMPfam_API5,superfamily_ARM repeat" "HMMPfam_API5,superfamily_ARM repeat" - no_errors TTC17 55761 broad.mit.edu 36 11 43375487 43375487 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 43375487 43375487 T A SNP TTC17 NM_018259 human genbank 54_36p 1 provisional missense c.788 p.I263N 1 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors TTC17 55761 broad.mit.edu 36 11 43383975 43383975 + Silent SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 43383975 43383975 C T SNP TTC17 NM_018259 human genbank 54_36p 1 provisional silent c.1659 p.S553 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors TTC17 55761 broad.mit.edu 36 11 43385634 43385634 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 43385634 43385634 G C SNP TTC17 NM_018259 human genbank 54_36p 1 provisional missense c.1995 p.L665F 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors TTC17 55761 broad.mit.edu 36 11 43429369 43429369 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 43429369 43429369 G A SNP TTC17 NM_018259 human genbank 54_36p 1 provisional missense c.3008 p.R1003Q 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors ACCSL 390110 broad.mit.edu 36 11 44026460 44026460 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 44026460 44026460 G A SNP ACCSL NM_001031854 human genbank 54_36p 1 validated missense c.298 p.D100N 0.01 NULL "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" - no_errors ACCSL 390110 broad.mit.edu 36 11 44031588 44031588 + Silent SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 44031588 44031588 C A SNP ACCSL NM_001031854 human genbank 54_36p 1 validated silent c.1005 p.I335 1 "HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases" "HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases" - no_errors ACCSL 390110 broad.mit.edu 36 11 44034203 44034203 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 44034203 44034203 A T SNP ACCSL NM_001031854 human genbank 54_36p 1 validated missense c.1177 p.T393S 0.37 "HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases" "HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases" - no_errors ACCSL 390110 broad.mit.edu 36 11 44038023 44038023 + Missense_Mutation SNP T T G novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 44038023 44038023 T G SNP ACCSL NM_001031854 human genbank 54_36p 1 validated missense c.1684 p.L562V 0 NULL "HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases" - no_errors ACCS 84680 broad.mit.edu 36 11 44055977 44055977 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 44055977 44055977 G C SNP ACCS NM_032592 human genbank 54_36p 1 validated missense c.661 p.G221R 0.66 "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_1_2" "PatternScan_AA_TRANSFER_CLASS_1,superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_1_2" - no_errors CD82 3732 broad.mit.edu 36 11 44583231 44583231 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 44583231 44583231 G A SNP CD82 NM_002231 human genbank 54_36p 1 reviewed missense c.184 p.V62M 0.99 HMMPfam_Tetraspannin "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors SLC35C1 55343 broad.mit.edu 36 11 45784160 45784160 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 45784160 45784160 T G SNP SLC35C1 NM_018389 human genbank 54_36p 1 reviewed missense c.232 p.F78V 1 NULL "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_TPT" - no_errors MAPK8IP1 9479 broad.mit.edu 36 11 45882247 45882247 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 45882247 45882247 A G SNP MAPK8IP1 NM_005456 human genbank 54_36p 1 reviewed missense c.1625 p.Y542C 1 "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF50729" "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" - no_errors C11orf94 143678 broad.mit.edu 36 11 45884996 45884996 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 45884996 45884996 C A SNP LOC143678 NM_001080446 human genbank 54_36p -1 validated missense c.175 p.D59Y 1 NULL NULL - no_errors GYLTL1B 120071 broad.mit.edu 36 11 45905458 45905458 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 45905458 45905458 G T SNP GYLTL1B NM_152312 human genbank 54_36p 1 validated missense c.1342 p.A448S 1 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" - no_errors CREB3L1 90993 broad.mit.edu 36 11 46291044 46291044 + Silent SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 46291044 46291044 C T SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known silent c.1029 p.N343 1 "HMMPfam_bZIP_1,HMMSmart_SM00338" "superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors DGKZ 8525 broad.mit.edu 36 11 46344423 46344423 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 46344423 46344423 C T SNP DGKZ NM_001105540 human genbank 54_36p 1 reviewed missense c.41 p.P14L 0.02 NULL "superfamily_Cysteine-rich domain,HMMSmart_SM00109,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors F2 2147 broad.mit.edu 36 11 46706902 46706902 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 46706902 46706902 C T SNP F2 NM_000506 human genbank 54_36p 1 reviewed missense c.1411 p.P471S 0.98 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors LRP4 4038 broad.mit.edu 36 11 46847186 46847186 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 46847186 46847186 T C SNP LRP4 NM_002334 human genbank 54_36p -1 validated missense c.4766 p.N1589S 1 "superfamily_YWTD domain,HMMSmart_SM00135" ############################################################################################################################################################################################################################################################### - no_errors LRP4 4038 broad.mit.edu 36 11 46849744 46849744 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 46849744 46849744 C T SNP LRP4 NM_002334 human genbank 54_36p -1 validated missense c.4600 p.A1534T 1 "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain" ############################################################################################################################################################################################################################################################### - no_errors ARFGAP2 84364 broad.mit.edu 36 11 47144488 47144488 + Silent SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 47144488 47144488 C G SNP ARFGAP2 NM_032389 human genbank 54_36p -1 provisional silent c.1452 p.L484 1 NULL "superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap" - no_errors ARFGAP2 84364 broad.mit.edu 36 11 47153380 47153380 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47153380 47153380 G A SNP ARFGAP2 NM_032389 human genbank 54_36p -1 provisional nonsense c.325 p.R109* 1 "HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP" "HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP" - no_errors DDB2 1643 broad.mit.edu 36 11 47213528 47213528 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 47213528 47213528 A C SNP DDB2 NM_000107 human genbank 54_36p 1 reviewed missense c.1012 p.T338P 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors NR1H3 10062 broad.mit.edu 36 11 47239545 47239545 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 11 47239545 47239545 G A SNP NR1H3 NM_005693 human genbank 54_36p 1 validated missense c.677 p.R226Q 0.85 superfamily_Nuclear receptor ligand-binding domain ############################################################################################################################################################################################################################################################### - no_errors MADD 8567 broad.mit.edu 36 11 47254216 47254219 + Frame_Shift_Del DEL CTTC - CTTC novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 CTTC CTTC - - CTTC CTTC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 47254216 47254219 CTTC - DEL MADD NM_003682 human genbank 54_36p 1 reviewed frame_shift_del c.850_853 p.L284fs 1.000:1.000:0.965:1.000 "HMMPfam_DENN,HMMSmart_SM00799" "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMSmart_SM00801,HMMPfam_dDENN" "(deletion:cds_exon[47254026,47254329])" no_errors MADD 8567 broad.mit.edu 36 11 47289922 47289922 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47289922 47289922 G C SNP MADD NM_003682 human genbank 54_36p 1 reviewed missense c.4222 p.V1408L 1 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMSmart_SM00801,HMMPfam_dDENN" - no_errors MYBPC3 4607 broad.mit.edu 36 11 47310321 47310321 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47310321 47310321 C T SNP MYBPC3 NM_000256 human genbank 54_36p -1 reviewed missense c.3692 p.S1231N 1 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2" - no_errors MYBPC3 4607 broad.mit.edu 36 11 47310986 47310986 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47310986 47310986 C T SNP MYBPC3 NM_000256 human genbank 54_36p -1 reviewed missense c.3445 p.D1149N 0.94 superfamily_FN_III-like "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors SPI1 6688 broad.mit.edu 36 11 47333408 47333408 + Silent SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 47333408 47333408 G A SNP SPI1 NM_001080547 human genbank 54_36p -1 reviewed silent c.762 p.S254 1 "HMMPfam_Ets,superfamily_Winged helix DNA-binding domain,HMMSmart_SM00413" "HMMPfam_Ets,superfamily_Winged helix DNA-binding domain,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors RAPSN 5913 broad.mit.edu 36 11 47419742 47419742 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47419742 47419742 G C SNP RAPSN NM_005055 human genbank 54_36p -1 reviewed missense c.909 p.D303E 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "HMMPfam_Rapsyn_N,PatternScan_43_KD_POSTSYNAPTIC,superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RAPSN 5913 broad.mit.edu 36 11 47419999 47419999 + Silent SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 47419999 47419999 G A SNP RAPSN NM_005055 human genbank 54_36p -1 reviewed silent c.741 p.L247 1 "HMMSmart_SM00028,superfamily_TPR-like" "HMMPfam_TPR_1,HMMSmart_SM00184,PatternScan_43_KD_POSTSYNAPTIC,HMMPfam_zf-C3HC4,HMMPfam_Rapsyn_N,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RING/U-box" - no_errors CELF1 10658 broad.mit.edu 36 11 47457007 47457007 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 47457007 47457007 C A SNP CUGBP1 NM_001025596 human genbank 54_36p -1 reviewed missense c.761 p.G254V 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors AGBL2 79841 broad.mit.edu 36 11 47664083 47664083 + Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47664083 47664083 G T SNP AGBL2 NM_024783 human genbank 54_36p -1 validated missense c.1726 p.R576S 0.09 "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" - no_errors FNBP4 23360 broad.mit.edu 36 11 47702858 47702858 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 47702858 47702858 A G SNP FNBP4 NM_015308 human genbank 54_36p -1 validated missense c.2057 p.L686P 1 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1" - no_errors FNBP4 23360 broad.mit.edu 36 11 47712212 47712212 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47712212 47712212 A C SNP FNBP4 NM_015308 human genbank 54_36p -1 validated missense c.1627 p.F543V 1 NULL "HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain" - no_errors NUP160 23279 broad.mit.edu 36 11 47770961 47770961 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 47770961 47770961 T C SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.3403 p.I1135V 1 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors NUP160 23279 broad.mit.edu 36 11 47826390 47826390 + Silent SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47826390 47826390 G A SNP NUP160 NM_015231 human genbank 54_36p -1 validated silent c.159 p.R53 0.99 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors NUP160 23279 broad.mit.edu 36 11 47826395 47826395 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 47826395 47826395 C G SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.154 p.E52Q 0.6 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors PTPRJ 5795 broad.mit.edu 36 11 48103233 48103233 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 11 48103233 48103233 G A SNP PTPRJ NM_002843 human genbank 54_36p 1 reviewed missense c.1012 p.G338S 0 HMMSmart_FN3 "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1" - no_errors OR4B1 119765 broad.mit.edu 36 11 48195608 48195608 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 48195608 48195608 G C SNP OR4B1 NM_001005470 human genbank 54_36p 1 provisional missense c.671 p.R224T 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4X1 390113 broad.mit.edu 36 11 48242166 48242166 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 48242166 48242166 T G SNP OR4X1 NM_001004726 human genbank 54_36p 1 provisional missense c.178 p.F60V 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4A47 403253 broad.mit.edu 36 11 48467462 48467462 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 48467462 48467462 C T SNP OR4A47 NM_001005512 human genbank 54_36p 1 validated missense c.542 p.P181L 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4C13 283092 broad.mit.edu 36 11 49930659 49930659 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 49930659 49930659 A G SNP OR4C13 NM_001001955 human genbank 54_36p 1 provisional missense c.109 p.M37V 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4C13 283092 broad.mit.edu 36 11 49930899 49930899 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 49930899 49930899 G T SNP OR4C13 NM_001001955 human genbank 54_36p 1 provisional missense c.349 p.A117S 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR4C12 283093 broad.mit.edu 36 11 49960046 49960046 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 49960046 49960046 T G SNP OR4C12 NM_001005270 human genbank 54_36p -1 provisional missense c.568 p.T190P 0.9 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4A5 81318 broad.mit.edu 36 11 51268246 51268246 + Silent SNP G G C novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 51268246 51268246 G C SNP OR4A5 NM_001005272 human genbank 54_36p -1 provisional silent c.726 p.T242 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,PatternScan_LECTIN_LEGUME_ALPHA,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4C46 119749 broad.mit.edu 36 11 51372532 51372532 + Silent SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 51372532 51372532 T A SNP OR4C46 NM_001004703 human genbank 54_36p 1 provisional silent c.675 p.T225 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR4C46 119749 broad.mit.edu 36 11 51372631 51372631 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 51372631 51372631 A T SNP OR4C46 NM_001004703 human genbank 54_36p 1 provisional missense c.774 p.R258S 0.02 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR4A15 81328 broad.mit.edu 36 11 54892040 54892040 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 54892040 54892040 C A SNP OR4A15 NM_001005275 human genbank 54_36p 1 provisional missense c.105 p.N35K 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4C15 81309 broad.mit.edu 36 11 55079253 55079253 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55079253 55079253 G C SNP OR4C15 NM_001001920 human genbank 54_36p 1 provisional missense c.895 p.V299L 0.03 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,PatternScan_LECTIN_LEGUME_ALPHA,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4S2 219431 broad.mit.edu 36 11 55175024 55175024 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 55175024 55175024 A T SNP OR4S2 NM_001004059 human genbank 54_36p 1 validated missense c.69 p.K23N 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4S2 219431 broad.mit.edu 36 11 55175361 55175361 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55175361 55175361 C T SNP OR4S2 NM_001004059 human genbank 54_36p 1 validated missense c.406 p.R136W 0 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR5D13 390142 broad.mit.edu 36 11 55297497 55297497 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55297497 55297497 C A SNP OR5D13 NM_001001967 human genbank 54_36p 1 provisional missense c.8 p.A3E 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5D14 219436 broad.mit.edu 36 11 55320009 55320009 + Silent SNP T T C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55320009 55320009 T C SNP OR5D14 NM_001004735 human genbank 54_36p 1 provisional silent c.402 p.Y134 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5L1 219437 broad.mit.edu 36 11 55335632 55335632 + Silent SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55335632 55335632 G A SNP OR5L1 NM_001004738 human genbank 54_36p 1 provisional silent c.114 p.T38 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5L1 219437 broad.mit.edu 36 11 55336359 55336359 + Missense_Mutation SNP G G C rs61735738 Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55336359 55336359 G C SNP OR5L1 NM_001004738 human genbank 54_36p 1 provisional missense c.841 p.V281L 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5L2 26338 broad.mit.edu 36 11 55351473 55351473 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55351473 55351473 T C SNP OR5L2 NM_001004739 human genbank 54_36p 1 provisional missense c.203 p.F68S 0.11 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5D16 390144 broad.mit.edu 36 11 55363156 55363156 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55363156 55363156 C T SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.353 p.A118V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5D16 390144 broad.mit.edu 36 11 55363540 55363540 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 55363540 55363540 A T SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.737 p.H246L 0.9 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5W2 390148 broad.mit.edu 36 11 55437854 55437854 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55437854 55437854 G A SNP OR5W2 NM_001001960 human genbank 54_36p -1 provisional missense c.781 p.R261W 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10AG1 282770 broad.mit.edu 36 11 55492348 55492348 + Silent SNP A A G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 55492348 55492348 A G SNP OR10AG1 NM_001005491 human genbank 54_36p -1 provisional silent c.168 p.N56 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5F1 338674 broad.mit.edu 36 11 55518467 55518467 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 55518467 55518467 C G SNP OR5F1 NM_003697 human genbank 54_36p -1 provisional missense c.211 p.V71L 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5F1 338674 broad.mit.edu 36 11 55518619 55518619 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 55518619 55518619 G A SNP OR5F1 NM_003697 human genbank 54_36p -1 provisional missense c.59 p.T20M 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5AS1 219447 broad.mit.edu 36 11 55555019 55555019 + Silent SNP T T C novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55555019 55555019 T C SNP OR5AS1 NM_001001921 human genbank 54_36p 1 provisional silent c.549 p.P183 0.18 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8H3 390152 broad.mit.edu 36 11 55646913 55646913 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55646913 55646913 G A SNP OR8H3 NM_001005201 human genbank 54_36p 1 provisional missense c.489 p.M163I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8K5 219453 broad.mit.edu 36 11 55683584 55683584 + Silent SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55683584 55683584 G T SNP OR8K5 NM_001004058 human genbank 54_36p -1 validated silent c.786 p.P262 0.27 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5J2 282775 broad.mit.edu 36 11 55701170 55701170 + Silent SNP C C G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55701170 55701170 C G SNP OR5J2 NM_001005492 human genbank 54_36p 1 provisional silent c.501 p.S167 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5T2 219464 broad.mit.edu 36 11 55756168 55756168 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55756168 55756168 G T SNP OR5T2 NM_001004746 human genbank 54_36p -1 provisional missense c.1070 p.T357N 0 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5T1 390155 broad.mit.edu 36 11 55800656 55800656 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55800656 55800656 C T SNP OR5T1 NM_001004745 human genbank 54_36p 1 provisional silent c.966 p.F322 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8H1 219469 broad.mit.edu 36 11 55814446 55814446 + Silent SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55814446 55814446 G T SNP OR8H1 NM_001005199 human genbank 54_36p -1 provisional silent c.669 p.T223 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8K3 219473 broad.mit.edu 36 11 55842418 55842418 + Silent SNP C C A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55842418 55842418 C A SNP OR8K3 NM_001005202 human genbank 54_36p 1 provisional silent c.60 p.I20 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8K3 219473 broad.mit.edu 36 11 55843218 55843218 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 55843218 55843218 T G SNP OR8K3 NM_001005202 human genbank 54_36p 1 provisional missense c.860 p.L287W 0.78 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8K1 390157 broad.mit.edu 36 11 55870397 55870397 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55870397 55870397 T C SNP OR8K1 NM_001002907 human genbank 54_36p 1 provisional missense c.307 p.Y103H 0.92 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8J1 219477 broad.mit.edu 36 11 55884914 55884914 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55884914 55884914 A T SNP OR8J1 NM_001005205 human genbank 54_36p 1 provisional missense c.616 p.N206Y 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5R1 219479 broad.mit.edu 36 11 55941589 55941589 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55941589 55941589 C A SNP OR5R1 NM_001004744 human genbank 54_36p -1 provisional missense c.696 p.Q232H 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5M3 219482 broad.mit.edu 36 11 55994055 55994055 + Silent SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55994055 55994055 G A SNP OR5M3 NM_001004742 human genbank 54_36p -1 provisional silent c.495 p.Y165 0.47 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M11 219487 broad.mit.edu 36 11 56066963 56066963 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56066963 56066963 G T SNP OR5M11 NM_001005245 human genbank 54_36p -1 provisional missense c.347 p.A116E 0.02 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M11 219487 broad.mit.edu 36 11 56067065 56067065 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56067065 56067065 G A SNP OR5M11 NM_001005245 human genbank 54_36p -1 provisional missense c.245 p.S82L 0.06 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5M11 219487 broad.mit.edu 36 11 56067236 56067236 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 56067236 56067236 G C SNP OR5M11 NM_001005245 human genbank 54_36p -1 provisional missense c.74 p.S25C 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5M10 390167 broad.mit.edu 36 11 56101185 56101185 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56101185 56101185 T A SNP OR5M10 NM_001004741 human genbank 54_36p -1 provisional missense c.589 p.M197L 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M10 390167 broad.mit.edu 36 11 56101670 56101670 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56101670 56101670 T G SNP OR5M10 NM_001004741 human genbank 54_36p -1 provisional missense c.104 p.Y35S 0.48 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5AP2 338675 broad.mit.edu 36 11 56165952 56165952 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56165952 56165952 G C SNP OR5AP2 NM_001002925 human genbank 54_36p -1 provisional missense c.540 p.I180M 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5AK2 390181 broad.mit.edu 36 11 56513363 56513363 + Silent SNP T T C novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56513363 56513363 T C SNP OR5AK2 NM_001005323 human genbank 54_36p 1 provisional silent c.399 p.T133 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors LRRC55 219527 broad.mit.edu 36 11 56706342 56706342 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 56706342 56706342 G T SNP LRRC55 NM_001005210 human genbank 54_36p 1 provisional missense c.399 p.E133D 1 "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082" - no_errors LRRC55 219527 broad.mit.edu 36 11 56706465 56706465 + Silent SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 56706465 56706465 C T SNP LRRC55 NM_001005210 human genbank 54_36p 1 provisional silent c.522 p.D174 0.91 "HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" - no_errors TNKS1BP1 85456 broad.mit.edu 36 11 56833997 56833997 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 56833997 56833997 C A SNP TNKS1BP1 NM_033396 human genbank 54_36p -1 validated missense c.2764 p.D922Y 0.23 NULL NULL - no_errors TNKS1BP1 85456 broad.mit.edu 36 11 56837572 56837572 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 56837572 56837572 C T SNP TNKS1BP1 NM_033396 human genbank 54_36p -1 validated missense c.1166 p.R389Q 0 NULL NULL - no_errors SSRP1 6749 broad.mit.edu 36 11 56852464 56852464 + Silent SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 56852464 56852464 G A SNP SSRP1 NM_003146 human genbank 54_36p -1 reviewed silent c.1494 p.N498 0.97 NULL "HMMPfam_SSrecog,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors SLC43A3 29015 broad.mit.edu 36 11 56933999 56933999 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 56933999 56933999 G C SNP SLC43A3 NM_014096 human genbank 54_36p -1 validated missense c.1232 p.A411G 1 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors SLC43A1 8501 broad.mit.edu 36 11 57025059 57025059 + Silent SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 57025059 57025059 G A SNP SLC43A1 NM_003627 human genbank 54_36p -1 provisional silent c.366 p.A122 1 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors UBE2L6 9246 broad.mit.edu 36 11 57084412 57084412 + Silent SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 57084412 57084412 G A SNP UBE2L6 NM_004223 human genbank 54_36p -1 reviewed silent c.97 p.L33 1 "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con,PatternScan_UBIQUITIN_CONJUGAT_1" - no_errors MED19 219541 broad.mit.edu 36 11 57228832 57228832 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 57228832 57228832 T A SNP MED19 NM_153450 human genbank 54_36p -1 provisional missense c.506 p.Q169L 1 HMMPfam_Med19 HMMPfam_Med19 - no_errors OR6Q1 219952 broad.mit.edu 36 11 57555327 57555327 + Silent SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 57555327 57555327 C A SNP OR6Q1 NM_001005186 human genbank 54_36p 1 validated silent c.327 p.T109 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR9Q2 219957 broad.mit.edu 36 11 57714696 57714696 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 57714696 57714696 G A SNP OR9Q2 NM_001005283 human genbank 54_36p 1 provisional missense c.158 p.R53H 0.02 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR1S2 219958 broad.mit.edu 36 11 57727663 57727663 + Silent SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 57727663 57727663 G A SNP OR1S2 NM_001004459 human genbank 54_36p -1 provisional silent c.567 p.H189 0.98 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR1S2 219958 broad.mit.edu 36 11 57727866 57727866 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 57727866 57727866 C T SNP OR1S2 NM_001004459 human genbank 54_36p -1 provisional missense c.364 p.V122I 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR10W1 81341 broad.mit.edu 36 11 57791742 57791742 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 57791742 57791742 G A SNP OR10W1 NM_207374 human genbank 54_36p -1 provisional silent c.165 p.G55 0.02 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B3 441608 broad.mit.edu 36 11 57927449 57927449 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 57927449 57927449 T C SNP OR5B3 NM_001005469 human genbank 54_36p -1 provisional missense c.10 p.K4E 0.08 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B2 390190 broad.mit.edu 36 11 57947077 57947077 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 57947077 57947077 C A SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional missense c.234 p.K78N 0.09 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LPXN 9404 broad.mit.edu 36 11 58073901 58073901 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 58073901 58073901 T C SNP LPXN NM_004811 human genbank 54_36p -1 reviewed missense c.676 p.M226V 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors ZFP91 80829 broad.mit.edu 36 11 58141539 58141539 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 58141539 58141539 G C SNP ZFP91 NM_053023 human genbank 54_36p 1 reviewed missense c.1497 p.L499F 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors FAM111B 374393 broad.mit.edu 36 11 58649831 58649831 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 58649831 58649831 G A SNP FAM111B NM_198947 human genbank 54_36p 1 validated nonsense c.1685 p.W562* 0 superfamily_Trypsin-like serine proteases superfamily_Trypsin-like serine proteases - no_errors OR5AN1 390195 broad.mit.edu 36 11 58888817 58888817 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 58888817 58888817 A T SNP OR5AN1 NM_001004729 human genbank 54_36p 1 provisional missense c.310 p.I104F 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5A1 219982 broad.mit.edu 36 11 58967856 58967856 + Silent SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 58967856 58967856 G A SNP OR5A1 NM_001004728 human genbank 54_36p 1 provisional silent c.639 p.S213 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5A1 219982 broad.mit.edu 36 11 58967926 58967926 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 58967926 58967926 C T SNP OR5A1 NM_001004728 human genbank 54_36p 1 provisional nonsense c.709 p.R237* 0.13 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR4D10 390197 broad.mit.edu 36 11 59001784 59001784 + Silent SNP T T C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 59001784 59001784 T C SNP OR4D10 NM_001004705 human genbank 54_36p 1 provisional silent c.306 p.F102 0.72 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OSBP 5007 broad.mit.edu 36 11 59118142 59118142 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 59118142 59118142 T C SNP OSBP NM_002556 human genbank 54_36p -1 reviewed missense c.1474 p.S492G 1 HMMPfam_Oxysterol_BP "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors GIF 2694 broad.mit.edu 36 11 59369478 59369478 + Silent SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 59369478 59369478 G A SNP GIF NM_005142 human genbank 54_36p -1 reviewed silent c.25 p.L9 0 HMMPfam_Cobalamin_bind "HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING" - no_errors TCN1 6947 broad.mit.edu 36 11 59386668 59386668 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 59386668 59386668 C A SNP TCN1 NM_001062 human genbank 54_36p -1 reviewed missense c.363 p.K121N 0 HMMPfam_Cobalamin_bind "HMMPfam_Cobalamin_bind,PatternScan_ABC_TRANSPORTER_1,PatternScan_COBALAMIN_BINDING" - no_errors PLAC1L 219990 broad.mit.edu 36 11 59571087 59571087 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 59571087 59571087 T A SNP PLAC1L NM_173801 human genbank 54_36p 1 provisional missense c.442 p.L148I 0.46 NULL NULL - no_errors MS4A3 932 broad.mit.edu 36 11 59591034 59591034 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 59591034 59591034 C A SNP MS4A3 NM_006138 human genbank 54_36p 1 reviewed missense c.386 p.A129D 0.06 HMMPfam_CD20 HMMPfam_CD20 - no_errors MS4A6A 64231 broad.mit.edu 36 11 59702353 59702353 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 59702353 59702353 C T SNP MS4A6A NM_152852 human genbank 54_36p -1 reviewed missense c.295 p.G99S 0.95 HMMPfam_CD20 HMMPfam_CD20 - no_errors MS4A5 64232 broad.mit.edu 36 11 59957856 59957856 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 59957856 59957856 G A SNP MS4A5 NM_023945 human genbank 54_36p 1 reviewed missense c.382 p.A128T 0.66 HMMPfam_CD20 HMMPfam_CD20 - no_errors MS4A1 931 broad.mit.edu 36 11 59987094 59987094 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 59987094 59987094 G T SNP MS4A1 NM_021950 human genbank 54_36p 1 reviewed missense c.203 p.G68V 0.72 HMMPfam_CD20 HMMPfam_CD20 - no_errors MS4A8B 83661 broad.mit.edu 36 11 60227519 60227519 + Nonsense_Mutation SNP C C G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 60227519 60227519 C G SNP MS4A8B NM_031457 human genbank 54_36p 1 reviewed nonsense c.312 p.Y104* 0.45 HMMPfam_CD20 HMMPfam_CD20 - no_errors PRPF19 27339 broad.mit.edu 36 11 60425396 60425396 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 60425396 60425396 C A SNP PRPF19 NM_014502 human genbank 54_36p -1 validated nonsense c.589 p.E197* 1 superfamily_WD40_like "HMMSmart_Ubox,superfamily_SSF57850,HMMPfam_U-box,HMMPfam_Prp19,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors TMEM109 79073 broad.mit.edu 36 11 60443814 60443814 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 60443814 60443814 C T SNP TMEM109 NM_024092 human genbank 54_36p 1 validated missense c.73 p.L25F 0.52 NULL NULL - no_errors TMEM132A 54972 broad.mit.edu 36 11 60457758 60457758 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 60457758 60457758 G T SNP TMEM132A NM_017870 human genbank 54_36p 1 reviewed missense c.1528 p.V510F 1 NULL NULL - no_errors TMEM132A 54972 broad.mit.edu 36 11 60460030 60460030 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 60460030 60460030 C G SNP TMEM132A NM_017870 human genbank 54_36p 1 reviewed missense c.2150 p.P717R 0.87 NULL NULL - no_errors CD5 921 broad.mit.edu 36 11 60645770 60645770 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 60645770 60645770 C A SNP CD5 NM_014207 human genbank 54_36p 1 validated missense c.917 p.A306D 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" - no_errors VWCE 220001 broad.mit.edu 36 11 60793047 60793047 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 60793047 60793047 C T SNP VWCE NM_152718 human genbank 54_36p -1 validated missense c.1805 p.C602Y 1 "HMMSmart_SM00214,PatternScan_VWFC_1" ############################################################################################################################################################################################################################################################### - no_errors SDHAF2 54949 broad.mit.edu 36 11 60961684 60961684 + Silent SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 60961684 60961684 G T SNP C11orf79 NM_017841 human genbank 54_36p 1 predicted silent c.48 p.L16 0 NULL "superfamily_DUF339,HMMPfam_DUF339" - no_errors SYT7 9066 broad.mit.edu 36 11 61047909 61047909 + Silent SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 61047909 61047909 C G SNP SYT7 NM_004200 human genbank 54_36p -1 validated silent c.873 p.R291 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYT7 9066 broad.mit.edu 36 11 61057099 61057099 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 61057099 61057099 G A SNP SYT7 NM_004200 human genbank 54_36p -1 validated missense c.289 p.R97W 1 NULL "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors FADS2 9415 broad.mit.edu 36 11 61361848 61361848 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 61361848 61361848 C G SNP FADS2 NM_004265 human genbank 54_36p 1 reviewed missense c.230 p.P77R 0.07 "superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5" "superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_FA_desaturase" - no_errors FADS3 3995 broad.mit.edu 36 11 61400413 61400413 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 61400413 61400413 G T SNP FADS3 NM_021727 human genbank 54_36p -1 reviewed missense c.1074 p.S358R 0.4 HMMPfam_FA_desaturase "PatternScan_CYTOCHROME_B5_1,superfamily_Cyt_B5,HMMPfam_Cyt-b5,HMMPfam_FA_desaturase" - no_errors FTH1 2495 broad.mit.edu 36 11 61488897 61488897 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 11 61488897 61488897 T C SNP FTH1 NM_002032 human genbank 54_36p -1 reviewed missense c.430 p.K144E 1 "superfamily_Ferritin-like,HMMPfam_Ferritin,PatternScan_FERRITIN_2" "superfamily_Ferritin-like,HMMPfam_Ferritin,PatternScan_FERRITIN_1,PatternScan_FERRITIN_2" - no_errors ASRGL1 80150 broad.mit.edu 36 11 61881104 61881104 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 61881104 61881104 C G SNP ASRGL1 NM_001083926 human genbank 54_36p 1 validated missense c.403 p.P135A 0.1 "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Asparaginase_2" "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Asparaginase_2" - no_errors AHNAK 79026 broad.mit.edu 36 11 62041330 62041330 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62041330 62041330 A G SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.17135 p.I5712T 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62043091 62043091 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62043091 62043091 G C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.15374 p.S5125C 0 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62044940 62044940 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62044940 62044940 T G SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.13525 p.M4509L 0.99 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62045707 62045707 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 62045707 62045707 T C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.12758 p.K4253R 1 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62047742 62047742 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 62047742 62047742 G A SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.10723 p.P3575S 0.67 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62050498 62050498 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62050498 62050498 G A SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.7967 p.P2656L 0.91 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62055266 62055266 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62055266 62055266 T C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.3199 p.M1067V 0.94 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 broad.mit.edu 36 11 62057585 62057585 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 62057585 62057585 G T SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.880 p.P294T 0.26 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors MTA2 9219 broad.mit.edu 36 11 62122408 62122408 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62122408 62122408 C A SNP MTA2 NM_004739 human genbank 54_36p -1 reviewed missense c.339 p.E113D 1 "HMMPfam_BAH,HMMSmart_BAH" "PatternScan_GATA_ZN_FINGER_1,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_SSF57716,HMMSmart_ZnF_GATA,HMMPfam_GATA" - no_errors B3GAT3 26229 broad.mit.edu 36 11 62141083 62141083 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 62141083 62141083 G A SNP B3GAT3 NM_012200 human genbank 54_36p -1 reviewed silent c.570 p.V190 0.96 "superfamily_SSF53448,HMMPfam_Glyco_transf_43" "superfamily_SSF53448,HMMPfam_Glyco_transf_43" - no_errors B3GAT3 26229 broad.mit.edu 36 11 62141167 62141167 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 62141167 62141167 G C SNP B3GAT3 NM_012200 human genbank 54_36p -1 reviewed missense c.486 p.N162K 1 "HMMPfam_Glyco_transf_43,superfamily_SSF53448" "HMMPfam_Glyco_transf_43,superfamily_SSF53448" - no_errors GANAB 23193 broad.mit.edu 36 11 62154461 62154461 + Silent SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 62154461 62154461 C G SNP GANAB NM_198335 human genbank 54_36p -1 validated silent c.1545 p.R515 0.99 HMMPfam_Glyco_hydro_31 "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2" - no_errors GANAB 23193 broad.mit.edu 36 11 62155158 62155158 + Nonsense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62155158 62155158 G C SNP GANAB NM_198335 human genbank 54_36p -1 validated nonsense c.1136 p.S379* 1 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2" - no_errors INTS5 80789 broad.mit.edu 36 11 62172743 62172743 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62172743 62172743 A G SNP INTS5 NM_030628 human genbank 54_36p -1 provisional missense c.1385 p.L462P 0.95 NULL NULL - no_errors INTS5 80789 broad.mit.edu 36 11 62173408 62173408 + Silent SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62173408 62173408 G A SNP INTS5 NM_030628 human genbank 54_36p -1 provisional silent c.720 p.S240 1 NULL NULL - no_errors ZBTB3 79842 broad.mit.edu 36 11 62278032 62278032 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 62278032 62278032 C A SNP ZBTB3 NM_024784 human genbank 54_36p -1 validated nonsense c.79 p.G27* 0 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors TAF6L 10629 broad.mit.edu 36 11 62302026 62302026 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62302026 62302026 G A SNP TAF6L NM_006473 human genbank 54_36p 1 reviewed missense c.235 p.A79T 1 NULL "superfamily_Histone-fold,HMMPfam_TAF,HMMSmart_SM00803,HMMPfam_DUF1546" - no_errors TAF6L 10629 broad.mit.edu 36 11 62310742 62310742 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62310742 62310742 C T SNP TAF6L NM_006473 human genbank 54_36p 1 reviewed missense c.1267 p.P423S 0 NULL "HMMPfam_TAF,HMMSmart_SM00803,superfamily_Histone-fold,HMMPfam_DUF1546" - no_errors NXF1 10482 broad.mit.edu 36 11 62327610 62327610 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 62327610 62327610 T C SNP NXF1 NM_006362 human genbank 54_36p -1 reviewed missense c.226 p.T76A 0.02 NULL "superfamily_SSF54928,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRcap,superfamily_SSF54427,HMMPfam_NTF2,superfamily_UBA_like,HMMSmart_TAP_C,HMMPfam_TAP_C" - no_errors STX5 6811 broad.mit.edu 36 11 62351640 62351640 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 62351640 62351640 G A SNP STX5 NM_003164 human genbank 54_36p -1 validated nonsense c.265 p.R89* 0.94 superfamily_t-snare proteins "superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors SLC22A25 387601 broad.mit.edu 36 11 62753477 62753477 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62753477 62753477 A G SNP SLC22A25 NM_199352 human genbank 54_36p -1 validated missense c.224 p.I75T 0.95 NULL "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC22A10 387775 broad.mit.edu 36 11 62814454 62814454 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62814454 62814454 T A SNP SLC22A10 NM_001039752 human genbank 54_36p 1 validated missense c.241 p.S81T 0.1 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors HRASLS5 117245 broad.mit.edu 36 11 62990168 62990168 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 62990168 62990168 C T SNP HRASLS5 NM_054108 human genbank 54_36p -1 provisional missense c.737 p.R246Q 1 HMMPfam_NC HMMPfam_NC - no_errors LGALS12 85329 broad.mit.edu 36 11 63032877 63032877 + Silent SNP C C A rs12289952 by-hapmap TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 63032877 63032877 C A SNP LGALS12 NM_033101 human genbank 54_36p 1 validated silent c.276 p.I92 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin" "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin" - no_errors ATL3 25923 broad.mit.edu 36 11 63183284 63183284 + Silent SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 63183284 63183284 G A SNP ATL3 NM_015459 human genbank 54_36p -1 validated silent c.63 p.S21 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors RCOR2 283248 broad.mit.edu 36 11 63438132 63438132 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 63438132 63438132 C T SNP RCOR2 NM_173587 human genbank 54_36p -1 provisional missense c.761 p.R254Q 0.99 NULL "HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors RCOR2 283248 broad.mit.edu 36 11 63438490 63438510 + In_Frame_Del DEL CCAGCCGCCGGGCCTGTCTGT - CCAGCCGCCGGGCCTGTCTGT novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W CCAGCCGCCGGGCCTGTCTGT CCAGCCGCCGGGCCTGTCTGT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 63438490 63438510 CCAGCCGCCGGGCCTGTCTGT - DEL RCOR2 NM_173587 human genbank 54_36p -1 provisional in_frame_del c.580_560 p.DRQARRL187in_frame_del 0.934:0.948:1.000:1.000:0.999:1.000:1.000:0.997:0.998:0.969:0.675:0.999:1.000:1.000:1.000:1.000:0.992:1.000:1.000:1.000:1.000 NULL "HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" "(deletion:cds_exon[63438465,63438589])" no_errors STIP1 10963 broad.mit.edu 36 11 63718643 63718643 + Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 63718643 63718643 C T SNP STIP1 NM_006819 human genbank 54_36p 1 validated nonsense c.478 p.R160* 0.33 "superfamily_SSF48452,HMMSmart_STI1" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMSmart_STI1" - no_errors SLC22A12 116085 broad.mit.edu 36 11 64115975 64115975 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64115975 64115975 G A SNP SLC22A12 NM_144585 human genbank 54_36p 1 reviewed missense c.371 p.R124H 0.91 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors NRXN2 9379 broad.mit.edu 36 11 64131861 64131862 + Frame_Shift_Ins INS - G - novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 64131861 64131862 - G INS NRXN2 NM_015080 human genbank 54_36p -1 reviewed frame_shift_ins c.4522_4521 p.T1507fs 1.000:0.993 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294" - no_errors NRXN2 9379 broad.mit.edu 36 11 64172824 64172824 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64172824 64172824 C T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed missense c.3241 p.D1081N 1 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294" - no_errors NRXN2 9379 broad.mit.edu 36 11 64184880 64184880 + Silent SNP C C A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64184880 64184880 C A SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.2106 p.G702 0.83 "HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases" "HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors NRXN2 9379 broad.mit.edu 36 11 64184952 64184952 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64184952 64184952 C T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.2034 p.G678 0.99 superfamily_Concanavalin A-like lectins/glucanases "HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors NRXN2 9379 broad.mit.edu 36 11 64209946 64209946 + Silent SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64209946 64209946 G A SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.900 p.Y300 1 superfamily_Concanavalin A-like lectins/glucanases "HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors RASGRP2 10235 broad.mit.edu 36 11 64264122 64264123 + Missense_Mutation DNP TC TC GA novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64264122 64264123 TC GA DNP RASGRP2 NM_001098670 human genbank 54_36p -1 reviewed missense c.461_460 p.E154S 1.000:1.000 "superfamily_Ras GEF,HMMPfam_RasGEF,HMMSmart_SM00147" "HMMSmart_SM00229,HMMPfam_RasGEF_N,superfamily_Ras GEF,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" - no_errors PYGM 5837 broad.mit.edu 36 11 64270790 64270790 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64270790 64270790 G C SNP PYGM NM_005609 human genbank 54_36p -1 validated missense c.2446 p.R816G 1 "superfamily_SSF53756,HMMPfam_Phosphorylase" "superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE" - no_errors PYGM 5837 broad.mit.edu 36 11 64277171 64277171 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64277171 64277171 G A SNP PYGM NM_005609 human genbank 54_36p -1 validated missense c.1468 p.R490W 1 "HMMPfam_Phosphorylase,superfamily_SSF53756" "HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE,superfamily_SSF53756" - no_errors SF1 7536 broad.mit.edu 36 11 64293596 64293596 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64293596 64293596 C T SNP SF1 NM_004630 human genbank 54_36p -1 validated missense c.541 p.G181R 1 "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1" "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors MAP4K2 5871 broad.mit.edu 36 11 64313672 64313672 + Silent SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64313672 64313672 T C SNP MAP4K2 NM_004579 human genbank 54_36p -1 reviewed silent c.2376 p.R792 1 "HMMSmart_CNH,HMMPfam_CNH" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_CNH,HMMPfam_CNH" - no_errors CDC42BPG 55561 broad.mit.edu 36 11 64358982 64358982 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64358982 64358982 T C SNP CDC42BPG NM_017525 human genbank 54_36p -1 validated missense c.2090 p.Y697C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CDC42BPG 55561 broad.mit.edu 36 11 64365872 64365872 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64365872 64365872 C G SNP CDC42BPG NM_017525 human genbank 54_36p -1 validated missense c.241 p.A81P 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors ATG2A 23130 broad.mit.edu 36 11 64431868 64431870 + Missense_Mutation TNP CTG CTG TCA novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W CTG CTG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64431868 64431870 CTG TCA TNP ATG2A NM_015104 human genbank 54_36p -1 provisional missense c.2433_2435 p.S812D 0.831:0.848:0.857 NULL "PatternScan_OX2_COVAL_FAD,HMMPfam_ATG_C,PatternScan_ADH_ZINC" - no_errors NAALADL1 10004 broad.mit.edu 36 11 64569328 64569328 + Silent SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64569328 64569328 A G SNP NAALADL1 NM_005468 human genbank 54_36p -1 validated silent c.2214 p.A738 0.89 superfamily_Transferrin receptor ectodomain C-terminal domain "PatternScan_PROTEIN_KINASE_ATP,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer" - no_errors ZFPL1 7542 broad.mit.edu 36 11 64612082 64612082 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64612082 64612082 C T SNP ZFPL1 NM_006782 human genbank 54_36p 1 validated missense c.853 p.R285C 0.99 NULL "PatternScan_ZF_RING_1,HMMSmart_RING" - no_errors MRPL49 740 broad.mit.edu 36 11 64649815 64649815 + Silent SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 64649815 64649815 G T SNP MRPL49 NM_004927 human genbank 54_36p 1 reviewed silent c.396 p.L132 1 HMMPfam_Img2 HMMPfam_Img2 - no_errors CAPN1 823 broad.mit.edu 36 11 64707243 64707243 + Silent SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64707243 64707243 G A SNP CAPN1 NM_005186 human genbank 54_36p 1 reviewed silent c.336 p.L112 1 "superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS" ############################################################################################################################################################################################################################################################### - no_errors DPF2 5977 broad.mit.edu 36 11 64865046 64865046 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 64865046 64865046 C A SNP DPF2 NM_006268 human genbank 54_36p 1 reviewed missense c.227 p.A76D 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors SSSCA1 10534 broad.mit.edu 36 11 65094555 65094555 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65094555 65094555 C A SNP SSSCA1 NM_006396 human genbank 54_36p 1 provisional missense c.17 p.A6D 0.91 NULL HMMPfam_Auto_anti-p27 - no_errors EHBP1L1 254102 broad.mit.edu 36 11 65105943 65105943 + Silent SNP A A G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65105943 65105943 A G SNP EHBP1L1 NM_001099409 human genbank 54_36p 1 validated silent c.1224 p.S408 0 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH" - no_errors DKFZp761E198 91056 broad.mit.edu 36 11 65302963 65302963 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65302963 65302963 A C SNP DKFZp761E198 NM_138368 human genbank 54_36p -1 validated missense c.1406 p.V469G 0.01 NULL NULL - no_errors EFEMP2 30008 broad.mit.edu 36 11 65391929 65391929 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65391929 65391929 C T SNP EFEMP2 NM_016938 human genbank 54_36p -1 reviewed silent c.1149 p.S383 0.72 NULL "PatternScan_EGF_1,superfamily_SSF57196,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMSmart_EGF" - no_errors FOSL1 8061 broad.mit.edu 36 11 65421052 65421052 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65421052 65421052 T C SNP FOSL1 NM_005438 human genbank 54_36p -1 reviewed missense c.101 p.K34R 1 NULL "HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors CST6 1474 broad.mit.edu 36 11 65536897 65536897 + Silent SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65536897 65536897 C T SNP CST6 NM_001323 human genbank 54_36p 1 reviewed silent c.265 p.L89 1 "HMMSmart_CY,HMMPfam_Cystatin,superfamily_SSF54403,PatternScan_CYSTATIN" "HMMSmart_CY,HMMPfam_Cystatin,superfamily_SSF54403,PatternScan_CYSTATIN" - no_errors CATSPER1 117144 broad.mit.edu 36 11 65545150 65545150 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65545150 65545150 T G SNP CATSPER1 NM_053054 human genbank 54_36p -1 reviewed missense c.1774 p.T592P 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors GAL3ST3 89792 broad.mit.edu 36 11 65567636 65567636 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65567636 65567636 G A SNP GAL3ST3 NM_033036 human genbank 54_36p -1 reviewed missense c.214 p.H72Y 1 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors SF3B2 10992 broad.mit.edu 36 11 65584674 65584674 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65584674 65584674 C T SNP SF3B2 NM_006842 human genbank 54_36p 1 reviewed missense c.1675 p.P559S 1 HMMPfam_DUF382 "HMMPfam_SAP,HMMSmart_SM00513,HMMPfam_DUF382,HMMSmart_SM00581,HMMPfam_PSP" - no_errors PACS1 55690 broad.mit.edu 36 11 65594709 65594709 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65594709 65594709 C G SNP PACS1 NM_018026 human genbank 54_36p 1 reviewed missense c.176 p.S59C 0.99 NULL HMMPfam_Pacs-1 - no_errors PACS1 55690 broad.mit.edu 36 11 65735253 65735253 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65735253 65735253 C T SNP PACS1 NM_018026 human genbank 54_36p 1 reviewed missense c.607 p.R203W 1 NULL HMMPfam_Pacs-1 - no_errors PACS1 55690 broad.mit.edu 36 11 65740818 65740830 + Splice_Site DEL CAAGGGTGAGCCT - CAAGGGTGAGCCT novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 CAAGGGTGAGCCT CAAGGGTGAGCCT - - CAAGGGTGAGCCT CAAGGGTGAGCCT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 65740818 65740830 CAAGGGTGAGCCT - DEL PACS1 NM_018026 human genbank 54_36p 1 reviewed splice_site_del c.974_978 p.R326fs 0.985:0.240:0.305:0.991:0.999 NULL HMMPfam_Pacs-1 "(deletion:cds_exon[65740742,65740822], intron[65740823,65743792])" no_errors PACS1 55690 broad.mit.edu 36 11 65757079 65757079 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65757079 65757079 G A SNP PACS1 NM_018026 human genbank 54_36p 1 reviewed missense c.1804 p.V602M 0.97 HMMPfam_Pacs-1 HMMPfam_Pacs-1 - no_errors PACS1 55690 broad.mit.edu 36 11 65757102 65757102 + Silent SNP G G C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65757102 65757102 G C SNP PACS1 NM_018026 human genbank 54_36p 1 reviewed silent c.1827 p.R609 0.96 HMMPfam_Pacs-1 HMMPfam_Pacs-1 - no_errors RAB1B 81876 broad.mit.edu 36 11 65800133 65800133 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65800133 65800133 G A SNP RAB1B NM_030981 human genbank 54_36p 1 validated missense c.454 p.A152T 1 "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors CD248 57124 broad.mit.edu 36 11 65839126 65839126 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65839126 65839126 C A SNP CD248 NM_020404 human genbank 54_36p -1 validated missense c.1949 p.G650V 0 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,HMMSmart_SM00179,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL" - no_errors RIN1 9610 broad.mit.edu 36 11 65857419 65857419 + Silent SNP G G C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65857419 65857419 G C SNP RIN1 NM_004292 human genbank 54_36p -1 validated silent c.1761 p.A587 1 "superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9" "superfamily_SH2 domain,HMMSmart_SM00252,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314" - no_errors SLC29A2 3177 broad.mit.edu 36 11 65887526 65887526 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 65887526 65887526 G T SNP SLC29A2 NM_001532 human genbank 54_36p -1 validated missense c.1328 p.S443Y 1 HMMPfam_Nucleoside_tran HMMPfam_Nucleoside_tran - no_errors MRPL11 65003 broad.mit.edu 36 11 65961438 65961438 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65961438 65961438 A G SNP MRPL11 NM_016050 human genbank 54_36p -1 reviewed missense c.272 p.L91P 1 "HMMSmart_SM00649,superfamily_Ribosomal protein L11 C-terminal domain,HMMPfam_Ribosomal_L11" "HMMPfam_Ribosomal_L11_N,superfamily_Ribosomal protein L11 N-terminal domain,HMMSmart_SM00649,superfamily_Ribosomal protein L11 C-terminal domain,HMMPfam_Ribosomal_L11" - no_errors PELI3 246330 broad.mit.edu 36 11 65999994 65999994 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 65999994 65999994 G C SNP PELI3 NM_145065 human genbank 54_36p 1 validated missense c.1190 p.W397S 1 HMMPfam_Pellino HMMPfam_Pellino - no_errors BBS1 582 broad.mit.edu 36 11 66055715 66055715 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 66055715 66055715 G C SNP BBS1 NM_024649 human genbank 54_36p 1 reviewed missense c.1621 p.V541L 1 NULL NULL - no_errors ACTN3 89 broad.mit.edu 36 11 66083371 66083374 + Frame_Shift_Del DEL GAGC - GAGC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GAGC GAGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 66083371 66083374 GAGC - DEL ACTN3 NM_001104 human genbank 54_36p 1 reviewed frame_shift_del c.1365_1368 p.S456fs 1.000:1.000:1.000:1.000 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[66083283,66083433])" pseudogene ACTN3 89 broad.mit.edu 36 11 66087148 66087148 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66087148 66087148 C A SNP ACTN3 NM_001104 human genbank 54_36p 1 reviewed missense c.2614 p.R872S 1 "superfamily_EF-hand,HMMPfam_efhand_Ca_insen" ############################################################################################################################################################################################################################################################### - pseudogene CCDC87 55231 broad.mit.edu 36 11 66114997 66115015 + Frame_Shift_Del DEL GACCACAGTTGTTCCAGAT - GACCACAGTTGTTCCAGAT novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 GACCACAGTTGTTCCAGAT GACCACAGTTGTTCCAGAT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66114997 66115015 GACCACAGTTGTTCCAGAT - DEL CCDC87 NM_018219 human genbank 54_36p -1 validated frame_shift_del c.2066_2048 p.H683fs 0.048:0.077:0.307:0.332:0.320:0.204:0.187:0.045:0.013:0.007:0.039:0.096:0.184:0.195:0.194:0.286:0.295:0.254:0.369 NULL NULL "(deletion:cds_exon[66114513,66117062])" no_errors SPTBN2 6712 broad.mit.edu 36 11 66223550 66223550 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66223550 66223550 G A SNP SPTBN2 NM_006946 human genbank 54_36p -1 validated missense c.3679 p.R1227W 1 "HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors C11orf80 79703 broad.mit.edu 36 11 66338022 66338022 + Silent SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66338022 66338022 T C SNP C11orf80 NM_024650 human genbank 54_36p 1 validated silent c.684 p.H228 0.94 NULL NULL - no_errors ANKRD13D 338692 broad.mit.edu 36 11 66825128 66825128 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 66825128 66825128 G A SNP ANKRD13D NM_207354 human genbank 54_36p 1 provisional missense c.904 p.A302T 1 NULL "HMMPfam_UIM,HMMSmart_SM00726" - no_errors SSH3 54961 broad.mit.edu 36 11 66831645 66831645 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 66831645 66831645 G T SNP SSH3 NM_017857 human genbank 54_36p 1 provisional missense c.652 p.G218C 0.59 NULL "HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" - no_errors SSH3 54961 broad.mit.edu 36 11 66831958 66831958 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66831958 66831958 G T SNP SSH3 NM_017857 human genbank 54_36p 1 provisional missense c.857 p.S286I 0.42 HMMPfam_DEK_C "HMMPfam_DSPc,HMMPfam_DEK_C,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors SSH3 54961 broad.mit.edu 36 11 66835861 66835861 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66835861 66835861 C T SNP SSH3 NM_017857 human genbank 54_36p 1 provisional missense c.1907 p.S636F 0.03 NULL "HMMPfam_DSPc,HMMPfam_DEK_C,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors TBC1D10C 374403 broad.mit.edu 36 11 66929688 66929688 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66929688 66929688 G C SNP TBC1D10C NM_198517 human genbank 54_36p 1 provisional missense c.407 p.G136A 1 "superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC" "superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC" - no_errors RPS6KB2 6199 broad.mit.edu 36 11 66957080 66957080 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 66957080 66957080 T C SNP RPS6KB2 NM_003952 human genbank 54_36p 1 reviewed missense c.698 p.I233T 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors CORO1B 57175 broad.mit.edu 36 11 66966579 66966579 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 66966579 66966579 G A SNP CORO1B NM_001018070 human genbank 54_36p -1 validated missense c.97 p.R33C 1 "HMMPfam_DUF1899,superfamily_WD40 repeat-like" "HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900" - no_errors GPR152 390212 broad.mit.edu 36 11 66975882 66975882 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66975882 66975882 A T SNP GPR152 NM_206997 human genbank 54_36p -1 provisional missense c.890 p.M297K 0.99 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors CABP4 57010 broad.mit.edu 36 11 66982457 66982457 + Silent SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 66982457 66982457 C T SNP CABP4 NM_145200 human genbank 54_36p 1 validated silent c.691 p.L231 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors PITPNM1 9600 broad.mit.edu 36 11 67022229 67022230 + Missense_Mutation DNP GC GC TG novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67022229 67022230 GC TG DNP PITPNM1 NM_004910 human genbank 54_36p -1 validated missense c.1625_1624 p.A542H 1.000:1.000 NULL "HMMPfam_IP_trans,superfamily_Bet v1-like,HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors GSTP1 2950 broad.mit.edu 36 11 67110474 67110474 + Silent SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 67110474 67110474 G T SNP GSTP1 NM_000852 human genbank 54_36p 1 reviewed silent c.483 p.L161 0.94 "superfamily_GST_C_like,HMMPfam_GST_C" "superfamily_Thiordxn-like_fd,HMMPfam_GST_N,superfamily_GST_C_like,HMMPfam_GST_C" - no_errors TBX10 347853 broad.mit.edu 36 11 67158235 67158235 + Splice_Site SNP C C A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67158235 67158235 C A SNP TBX10 NM_005995 human genbank 54_36p -1 provisional splice_site c.549+1 e4+1 1 - - - no_errors TCIRG1 10312 broad.mit.edu 36 11 67569077 67569077 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67569077 67569077 G T SNP TCIRG1 NM_006019 human genbank 54_36p 1 reviewed missense c.1097 p.R366L 0.73 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors TCIRG1 10312 broad.mit.edu 36 11 67573234 67573234 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67573234 67573234 T C SNP TCIRG1 NM_006019 human genbank 54_36p 1 reviewed missense c.1784 p.V595A 0 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors C11orf24 53838 broad.mit.edu 36 11 67786710 67786711 + Missense_Mutation DNP AC AC GA novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67786710 67786711 AC GA DNP C11orf24 NM_022338 human genbank 54_36p -1 validated missense c.329_328 p.V110S 0.002:0.000 NULL PatternScan_ALDOKETO_REDUCTASE_3 - no_errors LRP5 4041 broad.mit.edu 36 11 67910716 67910716 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67910716 67910716 C G SNP LRP5 NM_002335 human genbank 54_36p 1 validated missense c.1372 p.L458V 1 "superfamily_YWTD domain,HMMPfam_Ldl_recept_b,HMMSmart_SM00135" "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors LRP5 4041 broad.mit.edu 36 11 67934074 67934074 + Silent SNP C C T rs35298380 Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67934074 67934074 C T SNP LRP5 NM_002335 human genbank 54_36p 1 validated silent c.2208 p.D736 1 "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain" "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin,superfamily_YWTD domain" - no_errors LRP5 4041 broad.mit.edu 36 11 67949190 67949190 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 67949190 67949190 A G SNP LRP5 NM_002335 human genbank 54_36p 1 validated missense c.3281 p.E1094G 1 "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain" "HMMPfam_Ldl_recept_b,HMMSmart_SM00135,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin,superfamily_YWTD domain" - no_errors MTL5 9633 broad.mit.edu 36 11 68234924 68234924 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 68234924 68234924 T A SNP MTL5 NM_004923 human genbank 54_36p -1 reviewed missense c.1328 p.H443L 0 NULL HMMPfam_CXC - no_errors CPT1A 1374 broad.mit.edu 36 11 68304710 68304710 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 68304710 68304710 C A SNP CPT1A NM_001876 human genbank 54_36p -1 reviewed missense c.1432 p.A478S 1 "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2" "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2" - no_errors CPT1A 1374 broad.mit.edu 36 11 68308909 68308909 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 68308909 68308909 C T SNP CPT1A NM_001876 human genbank 54_36p -1 reviewed silent c.1113 p.S371 0.39 "HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases" "HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases" - no_errors CPT1A 1374 broad.mit.edu 36 11 68309007 68309007 + Nonsense_Mutation SNP G G A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 68309007 68309007 G A SNP CPT1A NM_001876 human genbank 54_36p -1 reviewed nonsense c.1015 p.R339* 0.94 "HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases" "HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases" - no_errors IGHMBP2 3508 broad.mit.edu 36 11 68457489 68457490 + Missense_Mutation DNP TC TC GT novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 68457489 68457490 TC GT DNP IGHMBP2 NM_002180 human genbank 54_36p 1 reviewed missense c.1382_1383 p.L461R 1.000:0.992 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154" - no_errors FGF3 2248 broad.mit.edu 36 11 69334464 69334464 + Silent SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 69334464 69334464 G A SNP FGF3 NM_005247 human genbank 54_36p -1 reviewed silent c.510 p.R170 1 "superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF" "superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors ANO1 55107 broad.mit.edu 36 11 69649920 69649920 + Silent SNP A A T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 69649920 69649920 A T SNP ANO1 NM_018043 human genbank 54_36p 1 validated silent c.1068 p.G356 1 NULL HMMPfam_DUF590 - no_errors ANO1 55107 broad.mit.edu 36 11 69655709 69655709 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 69655709 69655709 G A SNP ANO1 NM_018043 human genbank 54_36p 1 validated missense c.1134 p.M378I 1 NULL HMMPfam_DUF590 - no_errors ANO1 55107 broad.mit.edu 36 11 69706267 69706267 + Silent SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 69706267 69706267 C A SNP ANO1 NM_018043 human genbank 54_36p 1 validated silent c.2337 p.I779 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors FADD 8772 broad.mit.edu 36 11 69729942 69729942 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 11 69729942 69729942 G C SNP FADD NM_003824 human genbank 54_36p 1 reviewed missense c.342 p.R114S 0.36 "superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" "superfamily_DEATH_like,HMMSmart_DED,HMMPfam_DED,HMMSmart_DEATH,HMMPfam_Death" - no_errors CTTN 2017 broad.mit.edu 36 11 69946724 69946724 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 69946724 69946724 G C SNP CTTN NM_005231 human genbank 54_36p 1 reviewed missense c.932 p.G311A 1 HMMPfam_HS1_rep "HMMPfam_HS1_rep,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors SHANK2 22941 broad.mit.edu 36 11 70026568 70026568 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 70026568 70026568 G C SNP SHANK2 NM_012309 human genbank 54_36p -1 reviewed missense c.414 p.D138E 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors NADSYN1 55191 broad.mit.edu 36 11 70879624 70879624 + Missense_Mutation SNP T T A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 70879624 70879624 T A SNP NADSYN1 NM_018161 human genbank 54_36p 1 validated missense c.1648 p.F550I 1 "superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_NAD_synthase" "superfamily_Carbon-nitrogen hydrolase,HMMPfam_CN_hydrolase,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_NAD_synthase" - no_errors KRTAP5-7 440050 broad.mit.edu 36 11 70916252 70916252 + Silent SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 70916252 70916252 C T SNP KRTAP5-7 NM_001012503 human genbank 54_36p 1 validated silent c.258 p.G86 0.97 NULL "PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_VWFC_1" - no_errors NUMA1 4926 broad.mit.edu 36 11 71402374 71402374 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 71402374 71402374 C T SNP NUMA1 NM_006185 human genbank 54_36p -1 validated missense c.3823 p.E1275K 1 NULL superfamily_Prefoldin - no_errors NUMA1 4926 broad.mit.edu 36 11 71403242 71403242 + Silent SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 71403242 71403242 C A SNP NUMA1 NM_006185 human genbank 54_36p -1 validated silent c.2955 p.R985 0 NULL superfamily_Prefoldin - no_errors NUMA1 4926 broad.mit.edu 36 11 71404395 71404395 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 71404395 71404395 G A SNP NUMA1 NM_006185 human genbank 54_36p -1 validated missense c.1802 p.A601V 0 NULL superfamily_Prefoldin - no_errors NUMA1 4926 broad.mit.edu 36 11 71404873 71404873 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 71404873 71404873 C T SNP NUMA1 NM_006185 human genbank 54_36p -1 validated missense c.1324 p.E442K 0.2 NULL superfamily_Prefoldin - no_errors FOLR2 2350 broad.mit.edu 36 11 71610286 71610286 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 11 71610286 71610286 C A SNP FOLR2 NM_000803 human genbank 54_36p 1 reviewed missense c.651 p.S217R 0.28 HMMPfam_Folate_rec HMMPfam_Folate_rec - no_errors CLPB 81570 broad.mit.edu 36 11 71823138 71823138 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 71823138 71823138 T C SNP CLPB NM_030813 human genbank 54_36p -1 provisional missense c.29 p.K10R 0.91 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_2,HMMPfam_ClpB_D2-small" - no_errors PDE2A 5138 broad.mit.edu 36 11 71974286 71974286 + Splice_Site SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 71974286 71974286 C A SNP PDE2A NM_002599 human genbank 54_36p -1 validated splice_site c.1183-1 e15-1 1 - - - no_errors ARHGEF17 89798 broad.mit.edu 36 11 72753257 72753257 + Silent SNP A A G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 72753257 72753257 A G SNP ARHGEF17 NM_014786 human genbank 54_36p 1 validated silent c.5514 p.R1838 0.95 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase" - no_errors PAAF1 80227 broad.mit.edu 36 11 73289042 73289042 + Missense_Mutation SNP T T A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 73289042 73289042 T A SNP PAAF1 NM_025155 human genbank 54_36p 1 provisional missense c.461 p.M154K 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors C2CD3 26005 broad.mit.edu 36 11 73511754 73511754 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 73511754 73511754 A G SNP C2CD3 NM_015531 human genbank 54_36p -1 validated missense c.1292 p.V431A 0.96 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors PGM2L1 283209 broad.mit.edu 36 11 73725393 73725393 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 73725393 73725393 C G SNP PGM2L1 NM_173582 human genbank 54_36p -1 validated missense c.1821 p.E607D 1 superfamily_Phosphoglucomutase C-terminal domain "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase C-terminal domain" - no_errors KCNE3 10008 broad.mit.edu 36 11 73845994 73845994 + Missense_Mutation SNP C C A rs17221833 Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 73845994 73845994 C A SNP KCNE3 NM_005472 human genbank 54_36p -1 reviewed missense c.263 p.R88L 1 NULL NULL - no_errors XRRA1 143570 broad.mit.edu 36 11 74233764 74233764 + Splice_Site SNP A A G novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74233764 74233764 A G SNP XRRA1 NM_182969 human genbank 54_36p -1 validated splice_site c.1903+2 e14+2 0.96 - - - no_errors NEU3 10825 broad.mit.edu 36 11 74383296 74383296 + Silent SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74383296 74383296 C T SNP NEU3 NM_006656 human genbank 54_36p 1 reviewed silent c.189 p.L63 1 superfamily_Sialidase superfamily_Sialidase - no_errors NEU3 10825 broad.mit.edu 36 11 74395108 74395108 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74395108 74395108 C T SNP NEU3 NM_006656 human genbank 54_36p 1 reviewed missense c.1309 p.H437Y 0.02 superfamily_Sialidase superfamily_Sialidase - no_errors OR2AT4 341152 broad.mit.edu 36 11 74477819 74477819 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74477819 74477819 G T SNP OR2AT4 NM_001005285 human genbank 54_36p -1 provisional missense c.588 p.D196E 0.24 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SLCO2B1 11309 broad.mit.edu 36 11 74557927 74557927 + Silent SNP G G C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 74557927 74557927 G C SNP SLCO2B1 NM_007256 human genbank 54_36p 1 validated silent c.510 p.S170 0 "superfamily_MFS general substrate transporter,HMMPfam_OATP" "superfamily_MFS general substrate transporter,HMMPfam_OATP" - no_errors SLCO2B1 11309 broad.mit.edu 36 11 74588976 74588976 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74588976 74588976 C A SNP SLCO2B1 NM_007256 human genbank 54_36p 1 validated nonsense c.1659 p.C553* 0.96 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,superfamily_MFS general substrate transporter" - no_errors SLCO2B1 11309 broad.mit.edu 36 11 74593133 74593133 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 74593133 74593133 A T SNP SLCO2B1 NM_007256 human genbank 54_36p 1 validated missense c.1990 p.I664F 0.01 superfamily_MFS general substrate transporter "HMMPfam_OATP,superfamily_MFS general substrate transporter" - no_errors GDPD5 81544 broad.mit.edu 36 11 74831132 74831132 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 74831132 74831132 C T SNP GDPD5 NM_030792 human genbank 54_36p -1 validated missense c.1091 p.R364Q 0.09 "superfamily_PLC-like phosphodiesterases,HMMPfam_GDPD" "superfamily_PLC-like phosphodiesterases,HMMPfam_GDPD" - no_errors GDPD5 81544 broad.mit.edu 36 11 74837673 74837673 + Silent SNP G G C novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 74837673 74837673 G C SNP GDPD5 NM_030792 human genbank 54_36p -1 validated silent c.711 p.P237 1 "HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases" "HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases" - no_errors SERPINH1 871 broad.mit.edu 36 11 74955282 74955282 + Silent SNP C C G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74955282 74955282 C G SNP SERPINH1 NM_001235 human genbank 54_36p 1 reviewed silent c.240 p.L80 1 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SERPINH1 871 broad.mit.edu 36 11 74960735 74960735 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 74960735 74960735 C G SNP SERPINH1 NM_001235 human genbank 54_36p 1 reviewed missense c.1216 p.L406V 1 "HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins" "HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins" - no_errors C11orf30 56946 broad.mit.edu 36 11 75885041 75885041 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 11 75885041 75885041 G C SNP C11orf30 NM_020193 human genbank 54_36p 1 validated missense c.1243 p.V415L 0.9 NULL HMMPfam_ENT - no_errors C11orf30 56946 broad.mit.edu 36 11 75930920 75930920 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 75930920 75930920 C A SNP C11orf30 NM_020193 human genbank 54_36p 1 validated missense c.2570 p.S857Y 1 NULL HMMPfam_ENT - no_errors MYO7A 4647 broad.mit.edu 36 11 76547025 76547025 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 76547025 76547025 C T SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.904 p.R302C 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors CLNS1A 1207 broad.mit.edu 36 11 77018591 77018591 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77018591 77018591 G A SNP CLNS1A NM_001293 human genbank 54_36p -1 reviewed missense c.127 p.R43C 1 HMMPfam_ICln_channel HMMPfam_ICln_channel - no_errors RSF1 51773 broad.mit.edu 36 11 77055836 77055836 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77055836 77055836 T C SNP RSF1 NM_016578 human genbank 54_36p -1 validated missense c.4100 p.D1367G 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors RSF1 51773 broad.mit.edu 36 11 77129624 77129624 + Silent SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77129624 77129624 G A SNP RSF1 NM_016578 human genbank 54_36p -1 validated silent c.378 p.L126 1 NULL "HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors INTS4 92105 broad.mit.edu 36 11 77317144 77317144 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77317144 77317144 G A SNP INTS4 NM_033547 human genbank 54_36p -1 validated silent c.1263 p.N421 1 "superfamily_ARM repeat,HMMPfam_HEAT" "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors KCTD14 65987 broad.mit.edu 36 11 77405940 77405940 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77405940 77405940 C T SNP KCTD14 NM_023930 human genbank 54_36p -1 validated missense c.115 p.V39I 0.99 "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" - no_errors ALG8 79053 broad.mit.edu 36 11 77509759 77509759 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77509759 77509759 G A SNP ALG8 NM_024079 human genbank 54_36p -1 reviewed missense c.478 p.H160Y 1 HMMPfam_Alg6_Alg8 HMMPfam_Alg6_Alg8 - no_errors USP35 57558 broad.mit.edu 36 11 77585054 77585054 + Silent SNP C C T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77585054 77585054 C T SNP USP35 NM_020798 human genbank 54_36p 1 validated silent c.115 p.L39 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors GAB2 9846 broad.mit.edu 36 11 77612164 77612164 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77612164 77612164 G C SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed missense c.1509 p.S503R 0.98 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors GAB2 9846 broad.mit.edu 36 11 77615374 77615374 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 77615374 77615374 G T SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed missense c.992 p.T331N 0.99 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors ODZ4 26011 broad.mit.edu 36 11 78061015 78061015 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 78061015 78061015 T A SNP ODZ4 NM_001098816 human genbank 54_36p -1 validated missense c.3518 p.N1173I 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_TolB C-terminal domain,HMMPfam_NHL,HMMPfam_RHS_repeat" - no_errors C11orf82 220042 broad.mit.edu 36 11 82303441 82303441 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 82303441 82303441 C T SNP C11orf82 NM_145018 human genbank 54_36p 1 validated nonsense c.13 p.R5* 0.99 NULL superfamily_Nucleic acid-binding proteins - no_errors C11orf82 220042 broad.mit.edu 36 11 82317532 82317532 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 82317532 82317532 C T SNP C11orf82 NM_145018 human genbank 54_36p 1 validated missense c.179 p.S60F 1 superfamily_Nucleic acid-binding proteins superfamily_Nucleic acid-binding proteins - no_errors C11orf82 220042 broad.mit.edu 36 11 82322093 82322093 + Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 82322093 82322093 A T SNP C11orf82 NM_145018 human genbank 54_36p 1 validated missense c.2065 p.I689F 0 NULL superfamily_Nucleic acid-binding proteins - no_errors CCDC90B 60492 broad.mit.edu 36 11 82674662 82674662 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 82674662 82674662 A G SNP CCDC90B NM_021825 human genbank 54_36p -1 provisional missense c.2 p.M1T 0.03 NULL HMMPfam_DUF1640 - no_errors DLG2 1740 broad.mit.edu 36 11 83448129 83448129 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 83448129 83448129 C A SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.481 p.V161F 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" ############################################################################################################################################################################################################################################################### - no_errors EED 8726 broad.mit.edu 36 11 85633952 85633952 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 85633952 85633952 G A SNP EED NM_003797 human genbank 54_36p 1 reviewed silent c.33 p.A11 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors EED 8726 broad.mit.edu 36 11 85639051 85639051 + Silent SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 85639051 85639051 A G SNP EED NM_003797 human genbank 54_36p 1 reviewed silent c.180 p.P60 0.99 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors ME3 10873 broad.mit.edu 36 11 85830125 85830125 + Silent SNP G G A novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 85830125 85830125 G A SNP ME3 NM_001014811 human genbank 54_36p -1 reviewed silent c.1659 p.L553 0.95 "HMMPfam_Malic_M,superfamily_NAD(P)-bd" "superfamily_SSF53223,HMMPfam_malic,PatternScan_MALIC_ENZYMES,HMMPfam_Malic_M,superfamily_NAD(P)-bd" - no_errors ME3 10873 broad.mit.edu 36 11 85835783 85835783 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 85835783 85835783 G C SNP ME3 NM_001014811 human genbank 54_36p -1 reviewed missense c.1352 p.T451R 1 "HMMPfam_Malic_M,superfamily_NAD(P)-bd" "HMMPfam_malic,HMMPfam_Malic_M,PatternScan_MALIC_ENZYMES,superfamily_NAD(P)-bd,superfamily_SSF53223" - no_errors CTSC 1075 broad.mit.edu 36 11 87682116 87682116 + Nonsense_Mutation SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 87682116 87682116 G T SNP CTSC NM_001814 human genbank 54_36p -1 reviewed nonsense c.504 p.Y168* 0.08 superfamily_Cysteine proteinases "HMMPfam_CathepsinC_exc,superfamily_Dipeptidyl peptidase I (cathepsin C) exclusion domain,superfamily_Cysteine proteinases,HMMPfam_Peptidase_C1,HMMSmart_SM00645,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN" - no_errors CTSC 1075 broad.mit.edu 36 11 87710479 87710479 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 87710479 87710479 C A SNP CTSC NM_001814 human genbank 54_36p -1 reviewed missense c.10 p.G4W 0 NULL "PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_SM00645,HMMPfam_CathepsinC_exc,superfamily_Cysteine proteinases,superfamily_Dipeptidyl peptidase I (cathepsin C) exclusion domain" - no_errors GRM5 2915 broad.mit.edu 36 11 88420415 88420415 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 88420415 88420415 C G SNP GRM5 NM_000842 human genbank 54_36p -1 reviewed missense c.274 p.G92R 1 "superfamily_SSF53822,HMMPfam_ANF_receptor" "superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg" - no_errors TYR 7299 broad.mit.edu 36 11 88551390 88551390 + Silent SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 11 88551390 88551390 T C SNP TYR NM_000372 human genbank 54_36p 1 reviewed silent c.621 p.F207 1 "superfamily_Di-copper centre-containing domain,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1" "superfamily_Di-copper centre-containing domain,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2" - no_errors FOLH1B 219595 broad.mit.edu 36 11 89048986 89048986 + Splice_Site SNP T T A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 89048986 89048986 T A SNP PSMAL NM_153696 human genbank 54_36p 1 predicted splice_site c.448+2 e5+2 1 - - - no_errors FOLH1B 219595 broad.mit.edu 36 11 89063844 89063845 + Missense_Mutation DNP CA CA TT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 89063844 89063845 CA TT DNP PSMAL NM_153696 human genbank 54_36p 1 predicted missense c.846_847 p.I283L 0.795:0.071 "superfamily_SSF53187,superfamily_Transferrin_rcpt-like_dimerise" "superfamily_SSF53187,HMMPfam_Peptidase_M28,superfamily_Transferrin_rcpt-like_dimerise,HMMPfam_TFR_dimer" - no_errors SLC36A4 120103 broad.mit.edu 36 11 92540844 92540844 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 92540844 92540844 C G SNP SLC36A4 NM_152313 human genbank 54_36p -1 provisional missense c.682 p.E228Q 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors SLC36A4 120103 broad.mit.edu 36 11 92557273 92557273 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 92557273 92557273 G C SNP SLC36A4 NM_152313 human genbank 54_36p -1 provisional missense c.241 p.P81A 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors MED17 9440 broad.mit.edu 36 11 93166659 93166659 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 93166659 93166659 A G SNP MED17 NM_004268 human genbank 54_36p 1 reviewed missense c.755 p.E252G 1 HMMPfam_DUF2364 HMMPfam_DUF2364 - no_errors HEPHL1 341208 broad.mit.edu 36 11 93458971 93458978 + Frame_Shift_Del DEL CCACAACA - CCACAACA novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W CCACAACA CCACAACA - - CCACAACA CCACAACA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 93458971 93458978 CCACAACA - DEL HEPHL1 NM_001098672 human genbank 54_36p 1 validated frame_shift_del c.2048_2055 p.A683fs 0.048:0.003:0.000:0.000:0.000:0.599:0.650:0.443 superfamily_Cupredoxin "superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2" "(deletion:cds_exon[93458791,93459003])" no_errors MRE11A 4361 broad.mit.edu 36 11 93849165 93849165 + Silent SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 93849165 93849165 T A SNP MRE11A NM_005591 human genbank 54_36p -1 reviewed silent c.597 p.T199 0.95 "HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases" "HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases,HMMPfam_Mre11_DNA_bind" - no_errors AMOTL1 154810 broad.mit.edu 36 11 94173036 94173036 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 94173036 94173036 G C SNP AMOTL1 NM_130847 human genbank 54_36p 1 reviewed missense c.1032 p.E344D 0.97 NULL NULL - no_errors SRSF8 10929 broad.mit.edu 36 11 94440692 94440692 + Silent SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 94440692 94440692 C T SNP SFRS2B NM_032102 human genbank 54_36p 1 reviewed silent c.654 p.L218 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC82 79780 broad.mit.edu 36 11 95757511 95757511 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 95757511 95757511 C T SNP CCDC82 NM_024725 human genbank 54_36p -1 validated missense c.49 p.V17M 0.78 NULL NULL - no_errors CNTN5 53942 broad.mit.edu 36 11 99220797 99220797 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 99220797 99220797 G A SNP CNTN5 NM_014361 human genbank 54_36p 1 reviewed missense c.281 p.S94N 1 NULL "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_V-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors TRPC6 7225 broad.mit.edu 36 11 100867523 100867523 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 100867523 100867523 G T SNP TRPC6 NM_004621 human genbank 54_36p -1 reviewed missense c.1102 p.L368I 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans" - no_errors TRPC6 7225 broad.mit.edu 36 11 100880101 100880101 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 100880101 100880101 G T SNP TRPC6 NM_004621 human genbank 54_36p -1 reviewed missense c.809 p.S270Y 1 HMMPfam_TRP_2 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2" - no_errors ANGPTL5 253935 broad.mit.edu 36 11 101267415 101267415 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 101267415 101267415 G A SNP ANGPTL5 NM_178127 human genbank 54_36p -1 validated silent c.972 p.C324 1 "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C" "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors KIAA1377 57562 broad.mit.edu 36 11 101320316 101320316 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 101320316 101320316 G A SNP KIAA1377 NM_020802 human genbank 54_36p 1 validated missense c.359 p.R120H 1 NULL NULL - no_errors C11orf70 85016 broad.mit.edu 36 11 101442564 101442564 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 101442564 101442564 C T SNP C11orf70 NM_032930 human genbank 54_36p 1 predicted missense c.293 p.P98L 0.87 NULL NULL - no_errors BIRC3 330 broad.mit.edu 36 11 101712728 101712728 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 101712728 101712728 C G SNP BIRC3 NM_001165 human genbank 54_36p 1 reviewed missense c.1607 p.T536R 1 "superfamily_SSF57924,superfamily_DEATH_like" "PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors MMP27 64066 broad.mit.edu 36 11 102078699 102078699 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 102078699 102078699 C T SNP MMP27 NM_022122 human genbank 54_36p -1 reviewed missense c.614 p.G205E 0 "HMMSmart_SM00235,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10" ############################################################################################################################################################################################################################################################### - no_errors MMP8 4317 broad.mit.edu 36 11 102090553 102090553 + Silent SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 102090553 102090553 G A SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed silent c.1134 p.D378 1 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors MMP3 4314 broad.mit.edu 36 11 102216153 102216153 + Silent SNP C C G novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 102216153 102216153 C G SNP MMP3 NM_002422 human genbank 54_36p -1 reviewed silent c.831 p.T277 0 NULL ############################################################################################################################################################################################################################################################### - no_errors MMP13 4322 broad.mit.edu 36 11 102331557 102331557 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 102331557 102331557 C T SNP MMP13 NM_002427 human genbank 54_36p -1 reviewed missense c.88 p.D30N 0.08 NULL "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors DYNC2H1 79659 broad.mit.edu 36 11 102532374 102532374 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 102532374 102532374 A T SNP DYNC2H1 NM_001080463 human genbank 54_36p 1 provisional missense c.3792 p.L1264F 1 HMMPfam_DHC_N2 "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DYNC2H1 79659 broad.mit.edu 36 11 102575379 102575379 + Silent SNP A A G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 102575379 102575379 A G SNP DYNC2H1 NM_001080463 human genbank 54_36p 1 provisional silent c.8052 p.G2684 0.85 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DYNC2H1 79659 broad.mit.edu 36 11 102844528 102844528 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 102844528 102844528 T A SNP DYNC2H1 NM_001080463 human genbank 54_36p 1 provisional missense c.12671 p.I4224N 1 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CASP4 837 broad.mit.edu 36 11 104325680 104325680 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 104325680 104325680 C G SNP CASP4 NM_001225 human genbank 54_36p -1 reviewed missense c.581 p.R194T 0 "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14" "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CASP5 838 broad.mit.edu 36 11 104383020 104383020 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 104383020 104383020 G A SNP CASP5 NM_004347 human genbank 54_36p -1 reviewed missense c.385 p.P129S 0.07 "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52129,HMMSmart_CASc,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CASP1 834 broad.mit.edu 36 11 104406280 104406280 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 104406280 104406280 T A SNP CASP1 NM_033292 human genbank 54_36p -1 reviewed missense c.614 p.N205I 0.18 "superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14" "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,PatternScan_AMP_BINDING,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CARD17 440068 broad.mit.edu 36 11 104477348 104477348 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 104477348 104477348 C G SNP CARD17 NM_001007232 human genbank 54_36p -1 provisional missense c.4 p.A2P 0.88 "HMMSmart_CARD,superfamily_DEATH_like" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD" - no_errors CARD18 59082 broad.mit.edu 36 11 104514961 104514961 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 104514961 104514961 G T SNP CARD18 NM_021571 human genbank 54_36p -1 validated missense c.62 p.T21K 0.01 "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD" - no_errors GRIA4 2893 broad.mit.edu 36 11 104988219 104988219 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 104988219 104988219 T C SNP GRIA4 NM_000829 human genbank 54_36p 1 reviewed missense c.95 p.L32P 1 superfamily_SSF53822 "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRIA4 2893 broad.mit.edu 36 11 105274336 105274336 + Silent SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 105274336 105274336 G A SNP GRIA4 NM_000829 human genbank 54_36p 1 reviewed silent c.858 p.E286 0.87 "HMMPfam_ANF_receptor,superfamily_SSF53822" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850" - no_errors GRIA4 2893 broad.mit.edu 36 11 105309706 105309706 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 105309706 105309706 G C SNP GRIA4 NM_000829 human genbank 54_36p 1 reviewed missense c.2095 p.A699P 1 "HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850" - no_errors AASDHPPT 60496 broad.mit.edu 36 11 105453820 105453820 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 105453820 105453820 A G SNP AASDHPPT NM_015423 human genbank 54_36p 1 reviewed missense c.173 p.K58R 1 superfamily_4-PPT_transf "superfamily_4-PPT_transf,HMMPfam_ACPS" - no_errors GUCY1A2 2977 broad.mit.edu 36 11 106152495 106152495 + Silent SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 106152495 106152495 G A SNP GUCY1A2 NM_000855 human genbank 54_36p -1 validated silent c.1716 p.Y572 1 "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc" "HMMPfam_HNOB,superfamily_H-NOX domain,HMMPfam_HNOBA,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ALKBH8 91801 broad.mit.edu 36 11 106908244 106908244 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 106908244 106908244 C G SNP ALKBH8 ENST00000389568 human ensembl 54_36p -1 known missense c.870 p.W290C 1 HMMPfam_2OG-FeII_Oxy "HMMPfam_DUF1891,PatternScan_RIBOSOMAL_L23,HMMPfam_2OG-FeII_Oxy,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_11" - no_errors ACAT1 38 broad.mit.edu 36 11 107517594 107517594 + Silent SNP T T C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107517594 107517594 T C SNP ACAT1 NM_000019 human genbank 54_36p 1 reviewed silent c.783 p.F261 1 "superfamily_Thiolase-like,HMMPfam_Thiolase_N" "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors NPAT 4863 broad.mit.edu 36 11 107549693 107549693 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107549693 107549693 G C SNP NPAT NM_002519 human genbank 54_36p -1 validated missense c.1228 p.Q410E 0.03 NULL HMMSmart_SM00667 - no_errors ATM 472 broad.mit.edu 36 11 107620790 107620790 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 107620790 107620790 T C SNP ATM NM_000051 human genbank 54_36p 1 reviewed missense c.728 p.L243S 0.64 NULL "superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors ATM 472 broad.mit.edu 36 11 107705108 107705108 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107705108 107705108 C T SNP ATM NM_000051 human genbank 54_36p 1 reviewed nonsense c.7240 p.Q2414* 1 "HMMPfam_FAT,superfamily_ARM repeat" "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors ATM 472 broad.mit.edu 36 11 107741029 107741029 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 107741029 107741029 A G SNP ATM NM_000051 human genbank 54_36p 1 reviewed missense c.8861 p.Y2954C 1 "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors C11orf65 160140 broad.mit.edu 36 11 107783049 107783049 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107783049 107783049 C T SNP C11orf65 NM_152587 human genbank 54_36p -1 validated missense c.212 p.R71Q 0.99 NULL NULL - no_errors C11orf65 160140 broad.mit.edu 36 11 107783085 107783085 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 107783085 107783085 G C SNP C11orf65 NM_152587 human genbank 54_36p -1 validated missense c.176 p.A59G 1 NULL NULL - no_errors KDELC2 143888 broad.mit.edu 36 11 107855403 107855403 + Silent SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107855403 107855403 G A SNP KDELC2 NM_153705 human genbank 54_36p -1 validated silent c.1128 p.T376 0.31 HMMSmart_SM00672 "HMMPfam_Filamin,superfamily_E set domains,HMMSmart_SM00557,HMMSmart_SM00672" - no_errors EXPH5 23086 broad.mit.edu 36 11 107887170 107887170 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107887170 107887170 G A SNP EXPH5 NM_015065 human genbank 54_36p -1 validated missense c.4274 p.S1425F 0 NULL NULL - no_errors EXPH5 23086 broad.mit.edu 36 11 107890584 107890584 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 107890584 107890584 A G SNP EXPH5 NM_015065 human genbank 54_36p -1 validated missense c.860 p.F287S 1 NULL NULL - no_errors C11orf87 399947 broad.mit.edu 36 11 108800039 108800039 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 108800039 108800039 C G SNP C11orf87 NM_207645 human genbank 54_36p 1 predicted missense c.470 p.P157R 0.53 NULL NULL - no_errors FDXACB1 91893 broad.mit.edu 36 11 111254995 111254995 + Silent SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 111254995 111254995 C T SNP FDXACB1 NM_138378 human genbank 54_36p -1 validated silent c.72 p.L24 0.01 HMMPfam_DUF2431 "HMMPfam_DUF2431,superfamily_Anticodon-binding domain of PheRS,HMMPfam_FDX-ACB" - no_errors C11orf52 91894 broad.mit.edu 36 11 111301625 111301625 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 111301625 111301625 C T SNP C11orf52 NM_080659 human genbank 54_36p 1 validated nonsense c.109 p.Q37* 0.01 NULL NULL - no_errors DIXDC1 85458 broad.mit.edu 36 11 111361233 111361233 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 111361233 111361233 G A SNP DIXDC1 ENST00000389821 human ensembl 54_36p 1 known missense c.983 p.G328D 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_DIX,HMMSmart_SM00021" - no_errors C11orf57 55216 broad.mit.edu 36 11 111458848 111458848 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 111458848 111458848 G A SNP C11orf57 NM_001082969 human genbank 54_36p 1 validated missense c.824 p.R275H 1 NULL NULL - no_errors NCAM1 4684 broad.mit.edu 36 11 112609226 112609226 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 112609226 112609226 C T SNP NCAM1 ENST00000404693 human ensembl 54_36p 1 known missense c.1286 p.S429F 0.57 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors NCAM1 4684 broad.mit.edu 36 11 112636188 112636188 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 112636188 112636188 C T SNP NCAM1 NM_181351 human genbank 54_36p 1 validated missense c.2065 p.P689S 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKK1 255239 broad.mit.edu 36 11 112775938 112775938 + Silent SNP A A T rs10615370 Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 112775938 112775938 A T SNP ANKK1 NM_178510 human genbank 54_36p 1 provisional silent c.2037 p.L679 0.98 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ST,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ZBTB16 7704 broad.mit.edu 36 11 113440093 113440093 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 113440093 113440093 C G SNP ZBTB16 NM_001018011 human genbank 54_36p 1 reviewed missense c.861 p.S287R 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors RBM7 10179 broad.mit.edu 36 11 113778779 113778779 + Silent SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 113778779 113778779 A G SNP RBM7 NM_016090 human genbank 54_36p 1 provisional silent c.279 p.Q93 0.99 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors FAM55D 54827 broad.mit.edu 36 11 113956229 113956229 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 113956229 113956229 T A SNP FAM55D NM_001077639 human genbank 54_36p -1 validated missense c.934 p.T312S 0.04 NULL superfamily_E set domains - no_errors FAM55D 54827 broad.mit.edu 36 11 113958227 113958227 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 113958227 113958227 A G SNP FAM55D NM_001077639 human genbank 54_36p -1 validated missense c.823 p.F275L 0.95 NULL superfamily_E set domains - no_errors SIK3 23387 broad.mit.edu 36 11 116239701 116239701 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 11 116239701 116239701 G A SNP KIAA0999 NM_025164 human genbank 54_36p -1 validated missense c.1678 p.R560C 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SIDT2 51092 broad.mit.edu 36 11 116557414 116557414 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 116557414 116557414 C A SNP SIDT2 NM_001040455 human genbank 54_36p 1 validated missense c.256 p.Q86K 1 NULL NULL - no_errors BACE1 23621 broad.mit.edu 36 11 116691544 116691544 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 116691544 116691544 A G SNP BACE1 NM_012104 human genbank 54_36p -1 reviewed missense c.178 p.F60L 1 superfamily_Acid proteases "superfamily_Acid proteases,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors CEP164 22897 broad.mit.edu 36 11 116788066 116788066 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 116788066 116788066 A C SNP CEP164 NM_014956 human genbank 54_36p 1 validated missense c.4355 p.H1452P 0.61 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW" - no_errors DSCAML1 57453 broad.mit.edu 36 11 116804321 116804321 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 116804321 116804321 G A SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.6275 p.T2092I 1 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors DSCAML1 57453 broad.mit.edu 36 11 116834697 116834697 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 116834697 116834697 A G SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.3731 p.I1244T 1 superfamily_Fibronectin type III "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors DSCAML1 57453 broad.mit.edu 36 11 116857947 116857947 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 11 116857947 116857947 C T SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.2680 p.V894I 0.95 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors DSCAML1 57453 broad.mit.edu 36 11 116892526 116892526 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 116892526 116892526 C A SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.1829 p.R610L 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors DSCAML1 57453 broad.mit.edu 36 11 116897285 116897285 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 116897285 116897285 A G SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.1163 p.I388T 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors IL10RA 3587 broad.mit.edu 36 11 117369302 117369302 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 117369302 117369302 G C SNP IL10RA NM_001558 human genbank 54_36p 1 reviewed missense c.504 p.E168D 0.01 "HMMPfam_IL10Ra-bind,superfamily_Fibronectin type III" "HMMPfam_IL10Ra-bind,superfamily_Fibronectin type III" - no_errors TMPRSS4 56649 broad.mit.edu 36 11 117483781 117483781 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 117483781 117483781 C T SNP TMPRSS4 NM_019894 human genbank 54_36p 1 reviewed missense c.523 p.R175C 0.82 "superfamily_SRCR-like,HMMSmart_SM00202" "superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_Ldl_recept_a,superfamily_SRCR-like,HMMSmart_SM00202,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors SCN4B 6330 broad.mit.edu 36 11 117517214 117517214 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 117517214 117517214 C A SNP SCN4B NM_174934 human genbank 54_36p -1 reviewed missense c.511 p.G171C 1 NULL "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin" - no_errors UBE4A 9354 broad.mit.edu 36 11 117758581 117758581 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 117758581 117758581 C G SNP UBE4A NM_004788 human genbank 54_36p 1 reviewed missense c.2098 p.Q700E 0.95 HMMPfam_Ufd2P_core "HMMPfam_Ufd2P_core,HMMPfam_U-box,HMMSmart_SM00504,superfamily_RING/U-box" - no_errors MLL 4297 broad.mit.edu 36 11 117864597 117864597 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 117864597 117864597 A G SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.4391 p.E1464G 1 "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" ############################################################################################################################################################################################################################################################### - no_errors MLL 4297 broad.mit.edu 36 11 117881432 117881432 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 117881432 117881432 C A SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.9606 p.S3202R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors PHLDB1 23187 broad.mit.edu 36 11 118003566 118003566 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 118003566 118003566 A T SNP PHLDB1 NM_015157 human genbank 54_36p 1 validated missense c.817 p.S273C 1 NULL "superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors TREH 11181 broad.mit.edu 36 11 118036560 118036560 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 118036560 118036560 T G SNP TREH ENST00000264029 human ensembl 54_36p -1 known missense c.1000 p.N334H 0.06 "HMMPfam_Trehalase,superfamily_Six-hairpin glycosidases" "HMMPfam_Trehalase,superfamily_Six-hairpin glycosidases,PatternScan_TREHALASE_1,PatternScan_TREHALASE_2" - no_errors DDX6 1656 broad.mit.edu 36 11 118133101 118133101 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 11 118133101 118133101 T C SNP DDX6 NM_004397 human genbank 54_36p -1 reviewed missense c.1066 p.K356E 1 "superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors HMBS 3145 broad.mit.edu 36 11 118464151 118464177 + Splice_Site DEL GTGACCTGGGGACTTTTTCTGCAGGAA - GTGACCTGGGGACTTTTTCTGCAGGAA novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 GTGACCTGGGGACTTTTTCTGCAGGAA GTGACCTGGGGACTTTTTCTGCAGGAA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 118464151 118464177 GTGACCTGGGGACTTTTTCTGCAGGAA - DEL HMBS NM_000190 human genbank 54_36p 1 reviewed splice_site_del c.34-24_34-1 e2-1 0.026:0.010:0.002:0.002:0.000:0.000:0.000:0.007:0.010:0.013:0.002:0.009:0.029:0.050:0.050:0.056:0.042:0.041:0.017:0.033:0.727:0.986:1.000:1.000:1.000:0.998:0.967 - - "(deletion:intron[118460987,118464174], cds_exon[118464175,118464228])" no_errors DPAGT1 1798 broad.mit.edu 36 11 118476625 118476625 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 118476625 118476625 A G SNP DPAGT1 NM_001382 human genbank 54_36p -1 reviewed missense c.421 p.F141L 1 HMMPfam_Glycos_transf_4 HMMPfam_Glycos_transf_4 - no_errors NLRX1 79671 broad.mit.edu 36 11 118558087 118558087 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 118558087 118558087 C T SNP NLRX1 NM_024618 human genbank 54_36p 1 reviewed missense c.2429 p.T810M 0.02 "superfamily_RNI-like,HMMSmart_SM00368" "HMMPfam_NACHT,HMMSmart_SM00368,superfamily_RNI-like" - no_errors CBL 867 broad.mit.edu 36 11 118653681 118653681 + Silent SNP T T C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 118653681 118653681 T C SNP CBL NM_005188 human genbank 54_36p 1 reviewed silent c.1012 p.L338 1 "HMMPfam_Cbl_N3,superfamily_SSF55550" "HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N,HMMPfam_Cbl_N2,superfamily_SSF47473,HMMPfam_Cbl_N3,superfamily_SSF55550,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_UBA,HMMSmart_UBA" - no_errors MCAM 4162 broad.mit.edu 36 11 118687796 118687796 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 118687796 118687796 C G SNP MCAM NM_006500 human genbank 54_36p -1 validated missense c.1217 p.R406P 0.99 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors USP2 9099 broad.mit.edu 36 11 118733205 118733205 + Silent SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 118733205 118733205 G A SNP USP2 NM_004205 human genbank 54_36p -1 validated silent c.1632 p.Y544 0.92 "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_2" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP2 9099 broad.mit.edu 36 11 118735051 118735051 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 118735051 118735051 C G SNP USP2 NM_004205 human genbank 54_36p -1 validated missense c.1065 p.Q355H 1 "HMMPfam_UCH,superfamily_Cysteine proteinases" "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors TRIM29 23650 broad.mit.edu 36 11 119501780 119501780 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 119501780 119501780 A T SNP TRIM29 NM_012101 human genbank 54_36p -1 reviewed missense c.1162 p.S388T 1 NULL "HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain" - no_errors POU2F3 25833 broad.mit.edu 36 11 119685431 119685431 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 119685431 119685431 C T SNP POU2F3 NM_014352 human genbank 54_36p 1 validated nonsense c.994 p.R332* 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ARHGEF12 23365 broad.mit.edu 36 11 119827526 119827526 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 119827526 119827526 C T SNP ARHGEF12 NM_015313 human genbank 54_36p 1 reviewed missense c.1939 p.R647C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors GRIK4 2900 broad.mit.edu 36 11 120281358 120281358 + Silent SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 120281358 120281358 C T SNP GRIK4 NM_014619 human genbank 54_36p 1 reviewed silent c.1422 p.G474 0.99 "HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd" "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors TECTA 7007 broad.mit.edu 36 11 120533837 120533837 + Silent SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 120533837 120533837 G A SNP TECTA NM_005422 human genbank 54_36p 1 reviewed silent c.4383 p.P1461 0.98 "PatternScan_FA58C_2,HMMSmart_SM00215" ############################################################################################################################################################################################################################################################### - no_errors TECTA 7007 broad.mit.edu 36 11 120536216 120536216 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 120536216 120536216 G T SNP TECTA NM_005422 human genbank 54_36p 1 reviewed missense c.4852 p.V1618L 1 "HMMPfam_VWD,HMMSmart_SM00216" ############################################################################################################################################################################################################################################################### - no_errors TECTA 7007 broad.mit.edu 36 11 120542593 120542593 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 120542593 120542593 G C SNP TECTA NM_005422 human genbank 54_36p 1 reviewed missense c.5480 p.R1827T 1 "HMMPfam_Zona_pellucida,HMMSmart_SM00241" ############################################################################################################################################################################################################################################################### - no_errors SORL1 6653 broad.mit.edu 36 11 120919645 120919645 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 120919645 120919645 G T SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed nonsense c.1864 p.G622* 1 "HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase" ############################################################################################################################################################################################################################################################### - no_errors SORL1 6653 broad.mit.edu 36 11 120962233 120962233 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 120962233 120962233 G A SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed missense c.3799 p.D1267N 1 "HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module" ############################################################################################################################################################################################################################################################### - no_errors CRTAM 56253 broad.mit.edu 36 11 122231653 122231653 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 122231653 122231653 T A SNP CRTAM NM_019604 human genbank 54_36p 1 validated nonsense c.531 p.C177* 0.12 "superfamily_Immunoglobulin,HMMPfam_C2-set_2" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2" - no_errors GRAMD1B 57476 broad.mit.edu 36 11 122979344 122979344 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 122979344 122979344 C T SNP GRAMD1B NM_020716 human genbank 54_36p 1 validated missense c.622 p.P208S 1 NULL "HMMPfam_GRAM,HMMSmart_SM00568" - no_errors GRAMD1B 57476 broad.mit.edu 36 11 122985727 122985727 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 122985727 122985727 C T SNP GRAMD1B NM_020716 human genbank 54_36p 1 validated missense c.1243 p.P415S 0.99 NULL "HMMPfam_GRAM,HMMSmart_SM00568" - no_errors OR6X1 390260 broad.mit.edu 36 11 123129939 123129939 + Silent SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123129939 123129939 G A SNP OR6X1 NM_001005188 human genbank 54_36p -1 provisional silent c.498 p.F166 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6X1 390260 broad.mit.edu 36 11 123130340 123130340 + Frame_Shift_Del DEL A - - novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 123130340 123130340 A - DEL OR6X1 NM_001005188 human genbank 54_36p -1 provisional frame_shift_del c.97 p.Y33fs 0.29 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[123129498,123130436])" no_errors OR10S1 219873 broad.mit.edu 36 11 123353334 123353334 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123353334 123353334 G A SNP OR10S1 NM_001004474 human genbank 54_36p -1 provisional missense c.275 p.P92L 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR10G4 390264 broad.mit.edu 36 11 123392381 123392381 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123392381 123392381 C T SNP OR10G4 NM_001004462 human genbank 54_36p 1 provisional missense c.890 p.A297V 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10G8 219869 broad.mit.edu 36 11 123406421 123406421 + Silent SNP G G T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123406421 123406421 G T SNP OR10G8 NM_001004464 human genbank 54_36p 1 provisional silent c.882 p.V294 0.96 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors VWA5A 4013 broad.mit.edu 36 11 123494936 123494936 + Silent SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123494936 123494936 C G SNP VWA5A NM_014622 human genbank 54_36p 1 validated silent c.690 p.L230 1 NULL "HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" - no_errors OR8G2 26492 broad.mit.edu 36 11 123600700 123600700 + Silent SNP A A G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123600700 123600700 A G SNP OR8G2 NM_001007249 human genbank 54_36p 1 provisional silent c.93 p.S31 0.01 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8G2 26492 broad.mit.edu 36 11 123601219 123601219 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123601219 123601219 C A SNP OR8G2 NM_001007249 human genbank 54_36p 1 provisional missense c.612 p.S204R 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8D1 283159 broad.mit.edu 36 11 123685294 123685294 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 123685294 123685294 G C SNP OR8D1 NM_001002917 human genbank 54_36p -1 provisional missense c.579 p.H193Q 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors VSIG2 23584 broad.mit.edu 36 11 124127207 124127207 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 124127207 124127207 G T SNP VSIG2 NM_014312 human genbank 54_36p -1 provisional missense c.37 p.L13M 0.18 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors ROBO3 64221 broad.mit.edu 36 11 124251398 124251399 + Missense_Mutation DNP GA GA AG novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 124251398 124251399 GA AG DNP ROBO3 NM_022370 human genbank 54_36p 1 validated missense c.2611_2612 p.E871R 0.143:0.143 superfamily_Fibronectin type III "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ROBO3 64221 broad.mit.edu 36 11 124253130 124253130 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 124253130 124253130 C T SNP ROBO3 NM_022370 human genbank 54_36p 1 validated missense c.3074 p.A1025V 0.91 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors SLC37A2 219855 broad.mit.edu 36 11 124455789 124455789 + Silent SNP C C A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 124455789 124455789 C A SNP SLC37A2 NM_198277 human genbank 54_36p 1 validated silent c.597 p.A199 0.9 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SLC37A2 219855 broad.mit.edu 36 11 124459931 124459931 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 124459931 124459931 A G SNP SLC37A2 NM_198277 human genbank 54_36p 1 validated missense c.1126 p.M376V 1 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors PKNOX2 63876 broad.mit.edu 36 11 124726450 124726450 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 124726450 124726450 G C SNP PKNOX2 NM_022062 human genbank 54_36p 1 validated missense c.39 p.M13I 1 NULL "PatternScan_HOMEOBOX_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors PKNOX2 63876 broad.mit.edu 36 11 124805219 124805219 + Silent SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 124805219 124805219 G A SNP PKNOX2 NM_022062 human genbank 54_36p 1 validated silent c.1164 p.Q388 1 NULL "HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1" - no_errors FEZ1 9638 broad.mit.edu 36 11 124864833 124864833 + Silent SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 124864833 124864833 G C SNP FEZ1 NM_005103 human genbank 54_36p -1 reviewed silent c.51 p.P17 1 NULL HMMPfam_FEZ - no_errors EI24 9538 broad.mit.edu 36 11 124952674 124952674 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 124952674 124952674 T C SNP EI24 ENST00000397776 human ensembl 54_36p 1 known missense c.314 p.I105T 1 HMMPfam_EI24 HMMPfam_EI24 - no_errors PUS3 83480 broad.mit.edu 36 11 125270366 125270366 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125270366 125270366 G T SNP PUS3 NM_031307 human genbank 54_36p -1 validated missense c.907 p.L303M 1 "superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_1" "superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_1" - no_errors CDON 50937 broad.mit.edu 36 11 125381080 125381080 + Silent SNP A A C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125381080 125381080 A C SNP CDON NM_016952 human genbank 54_36p -1 validated silent c.1635 p.G545 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors CDON 50937 broad.mit.edu 36 11 125398520 125398520 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125398520 125398520 G C SNP CDON NM_016952 human genbank 54_36p -1 validated missense c.62 p.S21C 0.95 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FAM118B 79607 broad.mit.edu 36 11 125631830 125631830 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 125631830 125631830 G C SNP FAM118B NM_024556 human genbank 54_36p 1 validated missense c.855 p.E285D 1 NULL NULL - no_errors TIRAP 114609 broad.mit.edu 36 11 125668158 125668158 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125668158 125668158 G A SNP TIRAP NM_148910 human genbank 54_36p 1 reviewed missense c.644 p.R215H 0.04 superfamily_Toll/Interleukin receptor TIR domain superfamily_Toll/Interleukin receptor TIR domain - no_errors DCPS 28960 broad.mit.edu 36 11 125720539 125720539 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 125720539 125720539 C A SNP DCPS NM_014026 human genbank 54_36p 1 validated missense c.835 p.H279N 1 "HMMPfam_DcpS,superfamily_His_triad-like_motif,PatternScan_HIT_1" "HMMPfam_DcpS,superfamily_Scavenger_mRNA_decap_enz_N,superfamily_His_triad-like_motif,PatternScan_HIT_1" - no_errors KIRREL3 84623 broad.mit.edu 36 11 125811947 125811947 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125811947 125811947 G A SNP KIRREL3 NM_032531 human genbank 54_36p -1 provisional silent c.1521 p.S507 0.7 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set" - no_errors KIRREL3 84623 broad.mit.edu 36 11 125812085 125812085 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125812085 125812085 C A SNP KIRREL3 NM_032531 human genbank 54_36p -1 provisional missense c.1383 p.E461D 1 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors KIRREL3 84623 broad.mit.edu 36 11 125821979 125821979 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125821979 125821979 A T SNP KIRREL3 NM_032531 human genbank 54_36p -1 provisional missense c.1010 p.M337K 1 "HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors ETS1 2113 broad.mit.edu 36 11 127860089 127860089 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 127860089 127860089 G C SNP ETS1 NM_005238 human genbank 54_36p -1 validated missense c.569 p.P190R 1 NULL "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors FLI1 2313 broad.mit.edu 36 11 128185730 128185730 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 128185730 128185730 C T SNP FLI1 NM_002017 human genbank 54_36p 1 validated silent c.996 p.Y332 0.99 "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2" "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors FLI1 2313 broad.mit.edu 36 11 128185915 128185915 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 128185915 128185915 A G SNP FLI1 NM_002017 human genbank 54_36p 1 validated missense c.1181 p.H394R 1 superfamily_Winged helix DNA-binding domain "HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_Winged helix DNA-binding domain" - no_errors KCNJ1 3758 broad.mit.edu 36 11 128214814 128214814 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 128214814 128214814 C T SNP KCNJ1 NM_000220 human genbank 54_36p -1 reviewed missense c.592 p.A198T 0.99 "HMMPfam_IRK,superfamily_E set domains" "superfamily_Voltage-gated potassium channels,HMMPfam_IRK,superfamily_E set domains" - no_errors ARHGAP32 9743 broad.mit.edu 36 11 128348499 128348499 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 128348499 128348499 C A SNP RICS NM_014715 human genbank 54_36p -1 validated missense c.2023 p.V675F 1 NULL "superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors ARHGAP32 9743 broad.mit.edu 36 11 128498618 128498618 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 128498618 128498618 C G SNP uc009zcp.1 ENST00000356092 human ensembl 54_36p -1 known missense c.335 p.G112A 1 NULL "superfamily_PX domain,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_stop_codon BARX2 8538 broad.mit.edu 36 11 128812028 128812028 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 128812028 128812028 G T SNP BARX2 NM_003658 human genbank 54_36p 1 reviewed missense c.360 p.E120D 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors NFRKB 4798 broad.mit.edu 36 11 129245037 129245037 + Silent SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 129245037 129245037 G A SNP NFRKB NM_006165 human genbank 54_36p -1 validated silent c.3168 p.A1056 0 NULL NULL - no_errors ST14 6768 broad.mit.edu 36 11 129563297 129563297 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 129563297 129563297 C T SNP ST14 NM_021978 human genbank 54_36p 1 reviewed missense c.160 p.R54C 0.93 NULL ############################################################################################################################################################################################################################################################### - no_errors ST14 6768 broad.mit.edu 36 11 129565684 129565684 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 129565684 129565684 T G SNP ST14 NM_021978 human genbank 54_36p 1 reviewed missense c.760 p.S254A 0.03 "HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB" ############################################################################################################################################################################################################################################################### - no_errors ZBTB44 29068 broad.mit.edu 36 11 129635972 129635972 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 129635972 129635972 G A SNP ZBTB44 NM_014155 human genbank 54_36p -1 validated missense c.1007 p.S336F 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ADAMTS8 11095 broad.mit.edu 36 11 129780955 129780955 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 129780955 129780955 A G SNP ADAMTS8 NM_007037 human genbank 54_36p -1 reviewed missense c.2378 p.V793A 0.57 HMMPfam_ADAM_spacer1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors NTM 50863 broad.mit.edu 36 11 131521429 131521429 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 131521429 131521429 C T SNP NTM NM_001048209 human genbank 54_36p 1 reviewed missense c.211 p.R71C 1 "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig" - no_errors IGSF9B 22997 broad.mit.edu 36 11 133295556 133295556 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 133295556 133295556 G T SNP IGSF9B NM_014987 human genbank 54_36p -1 validated missense c.3274 p.P1092T 1 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3" - no_errors NCAPD3 23310 broad.mit.edu 36 11 133567979 133567979 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 133567979 133567979 C T SNP NCAPD3 NM_015261 human genbank 54_36p -1 validated nonsense c.1860 p.W620* 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_HEAT" - no_errors NCAPD3 23310 broad.mit.edu 36 11 133595723 133595723 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 133595723 133595723 A T SNP NCAPD3 NM_015261 human genbank 54_36p -1 validated missense c.172 p.Y58N 0.93 NULL "HMMPfam_HEAT,superfamily_ARM-type_fold" - no_errors ACAD8 27034 broad.mit.edu 36 11 133632324 133632325 + Missense_Mutation DNP GG GG AT novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 133632324 133632325 GG AT DNP ACAD8 NM_014384 human genbank 54_36p 1 validated missense c.343_344 p.G115I 1.000:1.000 "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N" "PatternScan_ACYL_COA_DH_2,superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like" - no_errors GLB1L3 112937 broad.mit.edu 36 11 133682227 133682227 + Splice_Site SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 133682227 133682227 G T SNP GLB1L3 NM_001080407 human genbank 54_36p 1 validated splice_site c.1000-1 e9-1 0.05 - - - no_errors GLB1L2 89944 broad.mit.edu 36 11 133717917 133717917 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 133717917 133717917 C T SNP GLB1L2 NM_138342 human genbank 54_36p 1 provisional missense c.146 p.A49V 0.43 NULL "HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F35" - no_errors KDM5A 5927 broad.mit.edu 36 12 287126 287126 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 287126 287126 G A SNP JARID1A NM_001042603 human genbank 54_36p -1 reviewed missense c.3685 p.L1229F 1 NULL "HMMSmart_SM00545,HMMSmart_SM00501,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00558" - no_errors CCDC77 84318 broad.mit.edu 36 12 420055 420055 + Silent SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 420055 420055 T C SNP CCDC77 NM_032358 human genbank 54_36p 1 validated silent c.1053 p.D351 1 NULL NULL - no_errors NINJ2 4815 broad.mit.edu 36 12 544825 544825 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 544825 544825 C T SNP NINJ2 NM_016533 human genbank 54_36p -1 validated missense c.404 p.R135Q 0 HMMPfam_Ninjurin HMMPfam_Ninjurin - no_errors NINJ2 4815 broad.mit.edu 36 12 545486 545486 + Silent SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 545486 545486 C T SNP NINJ2 NM_016533 human genbank 54_36p -1 validated silent c.291 p.K97 1 HMMPfam_Ninjurin HMMPfam_Ninjurin - no_errors WNK1 65125 broad.mit.edu 36 12 809542 809542 + Silent SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 809542 809542 C T SNP WNK1 NM_018979 human genbank 54_36p 1 validated silent c.1266 p.Y422 1 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors WNK1 65125 broad.mit.edu 36 12 848090 848090 + Silent SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 848090 848090 A G SNP HSN2 NM_213655 human genbank 54_36p 1 reviewed silent c.834 p.G278 1 NULL NULL - no_errors WNK1 65125 broad.mit.edu 36 12 875810 875810 + Missense_Mutation SNP A A G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 875810 875810 A G SNP WNK1 NM_018979 human genbank 54_36p 1 validated missense c.5896 p.K1966E 1 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors ERC1 23085 broad.mit.edu 36 12 1351370 1351370 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 1351370 1351370 A G SNP ERC1 NM_178040 human genbank 54_36p 1 reviewed missense c.2891 p.E964G 1 HMMPfam_Cast "HMMPfam_Cast,superfamily_Prefoldin,HMMPfam_RBD-FIP" - no_errors CACNA2D4 93589 broad.mit.edu 36 12 1781036 1781036 + Silent SNP G G C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 1781036 1781036 G C SNP CACNA2D4 NM_172364 human genbank 54_36p -1 reviewed silent c.2757 p.V919 0.04 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1" - no_errors LRTM2 654429 broad.mit.edu 36 12 1814040 1814040 + Silent SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 1814040 1814040 C T SNP LRTM2 NM_001039029 human genbank 54_36p 1 provisional silent c.1005 p.Y335 0.97 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082" - no_errors CACNA1C 775 broad.mit.edu 36 12 2492406 2492406 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 12 2492406 2492406 G A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.1385 p.R462Q 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1C 775 broad.mit.edu 36 12 2586462 2586462 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 2586462 2586462 A T SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.3261 p.Q1087H 0.99 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1C 775 broad.mit.edu 36 12 2644415 2644415 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 2644415 2644415 C G SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.4396 p.L1466V 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1C 775 broad.mit.edu 36 12 2645016 2645016 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 2645016 2645016 C T SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed silent c.4407 p.N1469 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1C 775 broad.mit.edu 36 12 2658978 2658978 + Silent SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 2658978 2658978 G A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed silent c.5199 p.A1733 0.71 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1C 775 broad.mit.edu 36 12 2667995 2667995 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 2667995 2667995 T C SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.5906 p.V1969A 0.98 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors NRIP2 83714 broad.mit.edu 36 12 2814317 2814317 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 2814317 2814317 C G SNP NRIP2 NM_031474 human genbank 54_36p -1 validated missense c.94 p.E32Q 0 NULL "superfamily_Acid proteases,PatternScan_ASP_PROTEASE" - no_errors PRMT8 56341 broad.mit.edu 36 12 3556335 3556335 + Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 3556335 3556335 C G SNP PRMT8 NM_019854 human genbank 54_36p 1 validated missense c.750 p.I250M 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "PatternScan_HSP70_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors PRMT8 56341 broad.mit.edu 36 12 3572531 3572531 + Silent SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 3572531 3572531 C T SNP PRMT8 NM_019854 human genbank 54_36p 1 validated silent c.1107 p.D369 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "PatternScan_HSP70_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors FGF23 8074 broad.mit.edu 36 12 4350108 4350108 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 4350108 4350108 G A SNP FGF23 NM_020638 human genbank 54_36p -1 reviewed missense c.418 p.R140W 0.1 "superfamily_Cytok_IL1_like,HMMSmart_FGF" "PatternScan_HBGF_FGF,superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF" - no_errors AKAP3 10566 broad.mit.edu 36 12 4607565 4607565 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 4607565 4607565 C A SNP AKAP3 NM_006422 human genbank 54_36p -1 reviewed missense c.764 p.R255I 0.82 "HMMSmart_SM00807,HMMPfam_AKAP_110" "HMMSmart_SM00807,HMMPfam_RII_binding_1,HMMPfam_AKAP_110" - no_errors GALNT8 26290 broad.mit.edu 36 12 4723978 4723978 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 4723978 4723978 G C SNP GALNT8 NM_017417 human genbank 54_36p 1 reviewed missense c.711 p.K237N 0 "superfamily_SSF53448,HMMPfam_Glycos_transf_2" "superfamily_SSF53448,HMMPfam_Glycos_transf_2,superfamily_RicinB_like,HMMPfam_Ricin_B_lectin,HMMSmart_RICIN" - no_errors KCNA1 3736 broad.mit.edu 36 12 4890821 4890821 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 4890821 4890821 G C SNP KCNA1 NM_000217 human genbank 54_36p 1 reviewed missense c.16 p.G6R 1 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA1 3736 broad.mit.edu 36 12 4891810 4891810 + Silent SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 4891810 4891810 C T SNP KCNA1 NM_000217 human genbank 54_36p 1 reviewed silent c.1005 p.I335 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KCNA5 3741 broad.mit.edu 36 12 5023889 5023889 + Silent SNP C C A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 5023889 5023889 C A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed silent c.315 p.G105 0.16 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCNA5 3741 broad.mit.edu 36 12 5024204 5024204 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 5024204 5024204 G A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed missense c.630 p.M210I 1 "HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain" "HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels" - no_errors NTF3 4908 broad.mit.edu 36 12 5474014 5474014 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 5474014 5474014 G C SNP NTF3 NM_001102654 human genbank 54_36p 1 reviewed missense c.412 p.G138R 1 NULL "superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF,PatternScan_NGF_1" - no_errors ANO2 57101 broad.mit.edu 36 12 5555330 5555330 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 5555330 5555330 T C SNP ANO2 NM_020373 human genbank 54_36p -1 validated missense c.2555 p.N852S 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors ANO2 57101 broad.mit.edu 36 12 5579037 5579037 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 5579037 5579037 G A SNP ANO2 NM_020373 human genbank 54_36p -1 validated nonsense c.2110 p.R704* 1 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors VWF 7450 broad.mit.edu 36 12 5971280 5971280 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 5971280 5971280 G C SNP VWF NM_000552 human genbank 54_36p -1 reviewed missense c.6764 p.T2255S 0.95 superfamily_Serine proterase inhibitors ############################################################################################################################################################################################################################################################### - no_errors VWF 7450 broad.mit.edu 36 12 5998813 5998813 + Silent SNP G G A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 5998813 5998813 G A SNP VWF NM_000552 human genbank 54_36p -1 reviewed silent c.4032 p.A1344 0.03 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" ############################################################################################################################################################################################################################################################### - no_errors VWF 7450 broad.mit.edu 36 12 6054778 6054778 + Silent SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 6054778 6054778 G A SNP VWF NM_000552 human genbank 54_36p -1 reviewed silent c.858 p.T286 0.01 HMMPfam_C8 ############################################################################################################################################################################################################################################################### - no_errors CD9 928 broad.mit.edu 36 12 6179991 6179991 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6179991 6179991 G T SNP CD9 NM_001769 human genbank 54_36p 1 reviewed missense c.65 p.W22L 1 HMMPfam_Tetraspannin "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors PLEKHG6 55200 broad.mit.edu 36 12 6295019 6295019 + Silent SNP G G A novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 6295019 6295019 G A SNP PLEKHG6 NM_018173 human genbank 54_36p 1 validated silent c.498 p.L166 0.96 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,superfamily_PH domain-like,HMMSmart_SM00233" - no_errors LTBR 4055 broad.mit.edu 36 12 6370101 6370101 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 6370101 6370101 C T SNP LTBR NM_002342 human genbank 54_36p 1 reviewed missense c.1045 p.H349Y 0.97 NULL "superfamily_SSF57586,HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1" - no_errors NCAPD2 9918 broad.mit.edu 36 12 6505594 6505594 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6505594 6505594 C T SNP NCAPD2 NM_014865 human genbank 54_36p 1 validated silent c.2448 p.C816 0.99 superfamily_ARM repeat superfamily_ARM repeat - no_errors NOP2 4839 broad.mit.edu 36 12 6543333 6543333 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6543333 6543333 C T SNP NOP2 NM_001033714 human genbank 54_36p -1 validated missense c.503 p.R168Q 0.98 NULL "superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN,HMMPfam_P120R" - no_errors CHD4 1108 broad.mit.edu 36 12 6562294 6562294 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6562294 6562294 C A SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.4217 p.R1406L 1 HMMPfam_DUF1086 ############################################################################################################################################################################################################################################################### - no_errors CHD4 1108 broad.mit.edu 36 12 6571219 6571219 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 6571219 6571219 C A SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.3124 p.G1042C 1 superfamily_P-loop containing nucleoside triphosphate hydrolases ############################################################################################################################################################################################################################################################### - no_errors CHD4 1108 broad.mit.edu 36 12 6577366 6577366 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6577366 6577366 C T SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.1847 p.G616E 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CHD4 1108 broad.mit.edu 36 12 6577472 6577472 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 6577472 6577472 C G SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.1741 p.D581H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LPAR5 57121 broad.mit.edu 36 12 6600556 6600556 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6600556 6600556 G T SNP LPAR5 NM_020400 human genbank 54_36p -1 reviewed missense c.120 p.N40K 0.78 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ACRBP 84519 broad.mit.edu 36 12 6626372 6626372 + Silent SNP A A C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 6626372 6626372 A C SNP ACRBP NM_032489 human genbank 54_36p -1 reviewed silent c.111 p.P37 0.47 HMMPfam_PBP_sp32 "HMMPfam_PBP_sp32,superfamily_SSF100895,HMMSmart_KAZAL" - no_errors ING4 51147 broad.mit.edu 36 12 6632438 6632438 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 6632438 6632438 G A SNP ING4 NM_016162 human genbank 54_36p -1 reviewed missense c.316 p.R106C 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors COPS7A 50813 broad.mit.edu 36 12 6708813 6708813 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6708813 6708813 A G SNP COPS7A NM_016319 human genbank 54_36p 1 provisional missense c.467 p.Y156C 1 "HMMPfam_PCI,HMMSmart_SM00088" "HMMPfam_PCI,HMMSmart_SM00088" - no_errors CD4 920 broad.mit.edu 36 12 6796678 6796678 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 6796678 6796678 G T SNP CD4 NM_000616 human genbank 54_36p 1 validated missense c.1077 p.W359C 0 "superfamily_Immunoglobulin,HMMPfam_C2-set" "HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_ig,HMMSmart_SM00406,HMMPfam_C2-set,HMMPfam_CD4-extracel" - no_errors GPR162 27239 broad.mit.edu 36 12 6806506 6806506 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6806506 6806506 T C SNP GPR162 NM_019858 human genbank 54_36p 1 reviewed missense c.1643 p.V548A 0.02 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors LRRC23 10233 broad.mit.edu 36 12 6885137 6885137 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6885137 6885137 G C SNP LRRC23 NM_201650 human genbank 54_36p 1 validated missense c.79 p.E27Q 0.99 superfamily_L domain-like "superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00365" - no_errors ATN1 1822 broad.mit.edu 36 12 6915115 6915115 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6915115 6915115 G A SNP ATN1 NM_001007026 human genbank 54_36p 1 reviewed missense c.424 p.E142K 1 HMMPfam_Atrophin-1 HMMPfam_Atrophin-1 - no_errors PHB2 11331 broad.mit.edu 36 12 6946612 6946612 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 6946612 6946612 G C SNP PHB2 NM_007273 human genbank 54_36p -1 provisional missense c.772 p.Q258E 1 NULL "HMMSmart_SM00244,HMMPfam_Band_7" - no_errors RBP5 83758 broad.mit.edu 36 12 7172153 7172153 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7172153 7172153 C G SNP RBP5 NM_031491 human genbank 54_36p -1 provisional missense c.202 p.G68R 1 "superfamily_Calycin,HMMPfam_Lipocalin" "PatternScan_FABP,superfamily_Calycin,HMMPfam_Lipocalin" - no_errors ACSM4 341392 broad.mit.edu 36 12 7348377 7348377 + Silent SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7348377 7348377 G A SNP ACSM4 NM_001080454 human genbank 54_36p 1 inferred silent c.183 p.Q61 1 superfamily_SSF56801 "superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors CD163L1 283316 broad.mit.edu 36 12 7413464 7413464 + Silent SNP G G A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7413464 7413464 G A SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed silent c.3795 p.G1265 0.03 "HMMSmart_SM00202,superfamily_SRCR-like,HMMPfam_SRCR,PatternScan_SRCR_1" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CD163L1 283316 broad.mit.edu 36 12 7418493 7418512 + Frame_Shift_Del DEL CACACCACGTGGGCATCGCT - CACACCACGTGGGCATCGCT novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W CACACCACGTGGGCATCGCT CACACCACGTGGGCATCGCT - - CACACCACGTGGGCATCGCT CACACCACGTGGGCATCGCT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 7418493 7418512 CACACCACGTGGGCATCGCT - DEL CD163L1 NM_174941 human genbank 54_36p -1 reviewed frame_shift_del c.3221_3202 p.D1069fs 1.000:1.000:0.964:0.999:1.000:1.000:1.000:0.977:0.004:0.011:0.034:0.247:0.958:0.967:0.940:0.938:0.917:0.000:0.000:0.001 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" "(deletion:cds_exon[7418305,7418619])" no_errors CD163L1 283316 broad.mit.edu 36 12 7419173 7419173 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7419173 7419173 T C SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.2972 p.H991R 0.01 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD163L1 283316 broad.mit.edu 36 12 7422901 7422901 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7422901 7422901 G A SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed nonsense c.2311 p.R771* 0 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD163L1 283316 broad.mit.edu 36 12 7422921 7422921 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7422921 7422921 G T SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.2291 p.A764D 0.01 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD163L1 283316 broad.mit.edu 36 12 7476563 7476563 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7476563 7476563 T C SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.482 p.N161S 0 "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD163L1 283316 broad.mit.edu 36 12 7477313 7477313 + Silent SNP A A G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7477313 7477313 A G SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed silent c.369 p.A123 0.15 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD163 9332 broad.mit.edu 36 12 7526584 7526584 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7526584 7526584 G C SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.3169 p.L1057V 0 NULL "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CD163 9332 broad.mit.edu 36 12 7529120 7529120 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 12 7529120 7529120 C T SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.2618 p.G873E 0.05 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors CD163 9332 broad.mit.edu 36 12 7531354 7531354 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 7531354 7531354 T C SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.1918 p.K640E 1 "HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like" "HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like" - no_errors GDF3 9573 broad.mit.edu 36 12 7739588 7739588 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7739588 7739588 G T SNP GDF3 NM_020634 human genbank 54_36p -1 reviewed missense c.4 p.L2I 0.57 NULL "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors SLC2A14 144195 broad.mit.edu 36 12 7858391 7858391 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 7858391 7858391 A C SNP SLC2A14 NM_153449 human genbank 54_36p -1 provisional missense c.1351 p.L451V 0.42 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC2A3 6515 broad.mit.edu 36 12 7975292 7975292 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 7975292 7975292 C A SNP SLC2A3 NM_006931 human genbank 54_36p -1 validated missense c.326 p.G109V 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors FOXJ2 55810 broad.mit.edu 36 12 8083874 8083881 + Frame_Shift_Del DEL CAGTGCAC - CAGTGCAC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D CAGTGCAC CAGTGCAC - - CAGTGCAC CAGTGCAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 8083874 8083881 CAGTGCAC - DEL FOXJ2 NM_018416 human genbank 54_36p 1 validated frame_shift_del c.179_186 p.V61fs 0.862:0.823:0.986:0.989:0.986:1.000:1.000:1.000 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" "(deletion:cds_exon[8083696,8084028])" no_errors FOXJ2 55810 broad.mit.edu 36 12 8091930 8091930 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8091930 8091930 C G SNP FOXJ2 NM_018416 human genbank 54_36p 1 validated missense c.1003 p.P335A 0.36 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors NECAP1 25977 broad.mit.edu 36 12 8136905 8136905 + Silent SNP A A G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8136905 8136905 A G SNP NECAP1 NM_015509 human genbank 54_36p 1 validated silent c.663 p.G221 1 NULL HMMPfam_DUF1681 - no_errors FAM90A1 55138 broad.mit.edu 36 12 8268675 8268675 + Silent SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8268675 8268675 G C SNP FAM90A1 NM_018088 human genbank 54_36p -1 validated silent c.21 p.P7 0 NULL NULL - no_errors AICDA 57379 broad.mit.edu 36 12 8648783 8648783 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 8648783 8648783 A G SNP AICDA NM_020661 human genbank 54_36p -1 reviewed missense c.430 p.Y144H 1 "superfamily_Cytidine deaminase-like,HMMPfam_APOBEC_C" "HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like,PatternScan_CYT_DCMP_DEAMINASES,HMMPfam_APOBEC_C" - no_errors A2ML1 144568 broad.mit.edu 36 12 8882236 8882236 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8882236 8882236 T A SNP A2ML1 NM_144670 human genbank 54_36p 1 validated missense c.893 p.M298K 0.98 NULL "HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep" - no_errors A2ML1 144568 broad.mit.edu 36 12 8882264 8882264 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8882264 8882264 G A SNP A2ML1 NM_144670 human genbank 54_36p 1 validated silent c.921 p.A307 0 NULL "HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN" - no_errors A2ML1 144568 broad.mit.edu 36 12 8907744 8907744 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8907744 8907744 C G SNP A2ML1 NM_144670 human genbank 54_36p 1 validated missense c.3590 p.T1197R 0.74 "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp" "HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN" - no_errors A2ML1 144568 broad.mit.edu 36 12 8912192 8912192 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 8912192 8912192 C T SNP A2ML1 NM_144670 human genbank 54_36p 1 validated nonsense c.4033 p.R1345* 0.01 superfamily_Alpha-macroglobulin receptor domain "HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN" - no_errors PHC1 1911 broad.mit.edu 36 12 8974644 8974644 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 8974644 8974644 C T SNP PHC1 NM_004426 human genbank 54_36p 1 reviewed missense c.959 p.T320I 0.99 NULL "HMMPfam_zf-FCS,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors DDX12 440081 broad.mit.edu 36 12 9481918 9481919 + In_Frame_Ins INS - CTGAGTAAC - novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W - - CTGAGTAAC CTGAGTAAC - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 9481918 9481919 - CTGAGTAAC INS DDX12 ENST00000290818 human ensembl 54_36p -1 known in_frame_ins c.349_348 p.116in_frame_insVTQ 1.000:0.990 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00491" - no_errors CLEC1A 51267 broad.mit.edu 36 12 10125126 10125126 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 10125126 10125126 C T SNP CLEC1A NM_016511 human genbank 54_36p -1 reviewed missense c.368 p.R123H 0.96 NULL "PatternScan_C_TYPE_LECTIN_1,HMMPfam_Ly49,superfamily_C-type_lectin_fold,HMMSmart_CLECT,HMMPfam_Lectin_C" - no_errors STYK1 55359 broad.mit.edu 36 12 10666533 10666533 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 10666533 10666533 C A SNP STYK1 NM_018423 human genbank 54_36p -1 validated missense c.938 p.G313V 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase_Tyr" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_TYR" - no_errors CSDA 8531 broad.mit.edu 36 12 10757084 10757084 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 10757084 10757084 G T SNP CSDA NM_003651 human genbank 54_36p -1 validated missense c.566 p.P189H 1 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK" - no_errors TAS2R8 50836 broad.mit.edu 36 12 10849981 10849981 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 10849981 10849981 T C SNP TAS2R8 NM_023918 human genbank 54_36p -1 reviewed missense c.866 p.N289S 0 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors TAS2R50 259296 broad.mit.edu 36 12 11030693 11030693 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 11030693 11030693 G C SNP TAS2R50 NM_176890 human genbank 54_36p -1 validated missense c.34 p.L12V 0 "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" - no_errors TAS2R46 259292 broad.mit.edu 36 12 11105796 11105796 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 11105796 11105796 T C SNP TAS2R46 NM_176887 human genbank 54_36p -1 validated missense c.365 p.K122R 0.04 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors PRB3 5544 broad.mit.edu 36 12 11312160 11312160 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 11312160 11312160 C G SNP PRB3 ENST00000279573 human ensembl 54_36p -1 known missense c.290 p.G97A 0.01 NULL NULL - no_errors PRB4 5545 broad.mit.edu 36 12 11352549 11352549 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 11352549 11352549 T A SNP PRB4 NM_002723 human genbank 54_36p -1 reviewed missense c.635 p.N212I 0 NULL NULL - no_errors ETV6 2120 broad.mit.edu 36 12 11928759 11928759 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 11928759 11928759 G C SNP ETV6 NM_001987 human genbank 54_36p 1 reviewed missense c.1123 p.G375R 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413" "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2" - no_errors LRP6 4040 broad.mit.edu 36 12 12169545 12169545 + Silent SNP T T A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 12169545 12169545 T A SNP LRP6 NM_002336 human genbank 54_36p -1 validated silent c.4401 p.G1467 1 NULL "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors LOH12CR1 118426 broad.mit.edu 36 12 12405482 12405482 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 12405482 12405482 G A SNP LOH12CR1 NM_058169 human genbank 54_36p 1 validated missense c.134 p.R45Q 1 NULL HMMPfam_LOH1CR12 - no_errors CDKN1B 1027 broad.mit.edu 36 12 12762272 12762272 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 12762272 12762272 G A SNP CDKN1B NM_004064 human genbank 54_36p 1 validated missense c.232 p.E78K 0.88 HMMPfam_CDI HMMPfam_CDI - no_errors APOLD1 81575 broad.mit.edu 36 12 12831529 12831529 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 12831529 12831529 C G SNP APOLD1 NM_030817 human genbank 54_36p 1 validated missense c.423 p.F141L 1 NULL NULL - no_errors DDX47 51202 broad.mit.edu 36 12 12865868 12865868 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 12865868 12865868 G T SNP DDX47 NM_016355 human genbank 54_36p 1 reviewed missense c.383 p.G128V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors GPRC5A 9052 broad.mit.edu 36 12 12953037 12953037 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 12953037 12953037 C T SNP GPRC5A NM_003979 human genbank 54_36p 1 reviewed missense c.587 p.S196F 0 HMMPfam_7tm_3 HMMPfam_7tm_3 - no_errors GPRC5D 55507 broad.mit.edu 36 12 12994440 12994440 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 12994440 12994440 C A SNP GPRC5D NM_018654 human genbank 54_36p -1 reviewed missense c.146 p.R49L 0 HMMPfam_7tm_3 HMMPfam_7tm_3 - no_errors GRIN2B 2904 broad.mit.edu 36 12 13910020 13910020 + Silent SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 13910020 13910020 G T SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed silent c.390 p.S130 1 superfamily_SSF53822 "superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C" - no_errors ATF7IP 55729 broad.mit.edu 36 12 14468581 14468581 + Silent SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 14468581 14468581 C A SNP ATF7IP NM_018179 human genbank 54_36p 1 validated silent c.465 p.T155 0 NULL "superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors GUCY2C 2984 broad.mit.edu 36 12 14687853 14687853 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 14687853 14687853 T C SNP GUCY2C NM_004963 human genbank 54_36p -1 validated missense c.1852 p.T618A 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors GUCY2C 2984 broad.mit.edu 36 12 14740583 14740583 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 14740583 14740583 T C SNP GUCY2C NM_004963 human genbank 54_36p -1 validated missense c.67 p.S23G 0 NULL ############################################################################################################################################################################################################################################################### - no_errors H2AFJ 55766 broad.mit.edu 36 12 14818950 14818950 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 14818950 14818950 G C SNP H2AFJ NM_177925 human genbank 54_36p 1 reviewed missense c.279 p.E93D 1 "superfamily_Histone-fold,HMMSmart_SM00414" "superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors C12orf60 144608 broad.mit.edu 36 12 14867807 14867807 + Missense_Mutation SNP T T G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 14867807 14867807 T G SNP C12orf60 NM_175874 human genbank 54_36p 1 validated missense c.671 p.I224S 0.02 NULL NULL - no_errors RERG 85004 broad.mit.edu 36 12 15153377 15153377 + Silent SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 15153377 15153377 C T SNP RERG NM_032918 human genbank 54_36p -1 provisional silent c.534 p.R178 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors EPS8 2059 broad.mit.edu 36 12 15702324 15702324 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 15702324 15702324 T C SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.1057 p.S353G 0.99 NULL "HMMSmart_PTB,superfamily_SSF50729,HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors EPS8 2059 broad.mit.edu 36 12 15709972 15709972 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 15709972 15709972 C G SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.721 p.A241P 0.99 NULL "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMSmart_PTB,HMMPfam_PTB,superfamily_SSF50729" - no_errors MGST1 4257 broad.mit.edu 36 12 16408059 16408059 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 16408059 16408059 G T SNP MGST1 NM_020300 human genbank 54_36p 1 reviewed missense c.285 p.L95F 1 HMMPfam_MAPEG HMMPfam_MAPEG - no_errors PIK3C2G 5288 broad.mit.edu 36 12 18391014 18391014 + Silent SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 18391014 18391014 C T SNP PIK3C2G ENST00000266497 human ensembl 54_36p 1 known silent c.1602 p.N534 1 HMMPfam_PI3K_C2 ############################################################################################################################################################################################################################################################### - no_errors PIK3C2G 5288 broad.mit.edu 36 12 18549513 18549513 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 12 18549513 18549513 C T SNP PIK3C2G ENST00000266497 human ensembl 54_36p 1 known silent c.3051 p.Y1017 1 "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors CAPZA3 93661 broad.mit.edu 36 12 18782876 18782876 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 18782876 18782876 G C SNP CAPZA3 NM_033328 human genbank 54_36p 1 reviewed missense c.407 p.G136A 0.93 "superfamily_SSF90096,HMMPfam_F-actin_cap_A" "superfamily_SSF90096,HMMPfam_F-actin_cap_A,PatternScan_F_ACTIN_CAPPING_A_1,PatternScan_F_ACTIN_CAPPING_A_2" - no_errors AEBP2 121536 broad.mit.edu 36 12 19484524 19484524 + Silent SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 19484524 19484524 G A SNP AEBP2 ENST00000266508 human ensembl 54_36p 1 known silent c.624 p.E208 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PDE3A 5139 broad.mit.edu 36 12 20674322 20674322 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 20674322 20674322 G T SNP PDE3A NM_000921 human genbank 54_36p 1 validated missense c.1754 p.C585F 1 NULL "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDE3A 5139 broad.mit.edu 36 12 20691141 20691141 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 20691141 20691141 G C SNP PDE3A NM_000921 human genbank 54_36p 1 validated missense c.2555 p.S852T 1 "HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604" "HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_HDc,superfamily_SSF109604" - no_errors SLCO1C1 53919 broad.mit.edu 36 12 20781368 20781368 + Missense_Mutation SNP A A T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 20781368 20781368 A T SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1443 p.K481N 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors SLCO1B3 28234 broad.mit.edu 36 12 20923791 20923791 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 20923791 20923791 C T SNP SLCO1B3 NM_019844 human genbank 54_36p 1 validated silent c.1290 p.C430 0.88 "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP" "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors SLCO1B3 28234 broad.mit.edu 36 12 20945663 20945663 + Silent SNP T T C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 20945663 20945663 T C SNP SLCO1B3 NM_019844 human genbank 54_36p 1 validated silent c.1860 p.F620 0.02 "HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors RECQL 5965 broad.mit.edu 36 12 21515263 21515263 + Silent SNP C C G rs2417989 Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 21515263 21515263 C G SNP RECQL NM_002907 human genbank 54_36p -1 reviewed silent c.1704 p.S568 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors RECQL 5965 broad.mit.edu 36 12 21517783 21517783 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 21517783 21517783 G T SNP RECQL NM_002907 human genbank 54_36p -1 reviewed missense c.1416 p.N472K 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCC9 10060 broad.mit.edu 36 12 21851660 21851660 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 21851660 21851660 C A SNP ABCC9 NM_005691 human genbank 54_36p -1 reviewed missense c.4336 p.G1446W 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC9 10060 broad.mit.edu 36 12 21903817 21903817 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 21903817 21903817 C T SNP ABCC9 NM_005691 human genbank 54_36p -1 reviewed silent c.2475 p.A825 0.99 "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCC9 10060 broad.mit.edu 36 12 21978114 21978114 + Silent SNP G G A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 21978114 21978114 G A SNP ABCC9 NM_005691 human genbank 54_36p -1 reviewed silent c.153 p.S51 1 NULL "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ST8SIA1 6489 broad.mit.edu 36 12 22331372 22331372 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 22331372 22331372 G A SNP ST8SIA1 NM_003034 human genbank 54_36p -1 reviewed missense c.359 p.S120L 0.86 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors ST8SIA1 6489 broad.mit.edu 36 12 22378368 22378368 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 22378368 22378368 C G SNP ST8SIA1 NM_003034 human genbank 54_36p -1 reviewed missense c.66 p.K22N 1 NULL HMMPfam_Glyco_transf_29 - no_errors SOX5 6660 broad.mit.edu 36 12 23607544 23607544 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 23607544 23607544 T G SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.1403 p.E468A 1 NULL "PatternScan_TONB_DEPENDENT_REC_1,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors SOX5 6660 broad.mit.edu 36 12 23648643 23648643 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 23648643 23648643 G A SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.1109 p.S370F 1 NULL "HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1" - no_errors SOX5 6660 broad.mit.edu 36 12 23940208 23940208 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 23940208 23940208 G C SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.56 p.P19R 1 PatternScan_TONB_DEPENDENT_REC_1 "HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1" - no_errors LRMP 4033 broad.mit.edu 36 12 25146435 25146435 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 25146435 25146435 A T SNP LRMP NM_006152 human genbank 54_36p 1 reviewed missense c.926 p.N309I 1 HMMPfam_MRVI1 HMMPfam_MRVI1 - no_errors LRMP 4033 broad.mit.edu 36 12 25148247 25148247 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 25148247 25148247 G A SNP LRMP NM_006152 human genbank 54_36p 1 reviewed missense c.1034 p.R345K 0.88 HMMPfam_MRVI1 HMMPfam_MRVI1 - no_errors CASC1 55259 broad.mit.edu 36 12 25188760 25188760 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 25188760 25188760 G A SNP CASC1 NM_018272 human genbank 54_36p -1 validated missense c.808 p.H270Y 0 NULL NULL - no_errors KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors IFLTD1 160492 broad.mit.edu 36 12 25564158 25564158 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 25564158 25564158 C G SNP IFLTD1 NM_152590 human genbank 54_36p -1 validated missense c.854 p.W285S 0.01 NULL "superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors STK38L 23012 broad.mit.edu 36 12 27362215 27362215 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 12 27362215 27362215 C A SNP STK38L NM_015000 human genbank 54_36p 1 validated missense c.1075 p.L359I 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors ERGIC2 51290 broad.mit.edu 36 12 29401902 29401902 + Silent SNP T T G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 29401902 29401902 T G SNP ERGIC2 NM_016570 human genbank 54_36p -1 validated silent c.397 p.R133 1 NULL HMMPfam_DUF1692 - no_errors OVCH1 341350 broad.mit.edu 36 12 29520447 29520447 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 29520447 29520447 G A SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.1430 p.A477V 0.96 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors OVCH1 341350 broad.mit.edu 36 12 29521596 29521596 + Silent SNP T T C novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 29521596 29521596 T C SNP OVCH1 NM_183378 human genbank 54_36p -1 validated silent c.1191 p.E397 0 superfamily_Spermadhesin CUB domain "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors CAPRIN2 65981 broad.mit.edu 36 12 30797725 30797725 + Silent SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 30797725 30797725 C T SNP CAPRIN2 NM_001002259 human genbank 54_36p -1 validated silent c.240 p.G80 0.77 NULL "HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q" - no_errors C12orf35 55196 broad.mit.edu 36 12 32026322 32026322 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 32026322 32026322 C G SNP C12orf35 NM_018169 human genbank 54_36p 1 validated missense c.1166 p.A389G 0.36 NULL NULL - no_errors C12orf35 55196 broad.mit.edu 36 12 32026913 32026913 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 32026913 32026913 C G SNP C12orf35 NM_018169 human genbank 54_36p 1 validated missense c.1757 p.A586G 0 NULL NULL - no_errors FGD4 121512 broad.mit.edu 36 12 32642767 32642767 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 32642767 32642767 C T SNP FGD4 NM_139241 human genbank 54_36p 1 reviewed nonsense c.670 p.R224* 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors PKP2 5318 broad.mit.edu 36 12 32922444 32922444 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 32922444 32922444 G A SNP PKP2 NM_004572 human genbank 54_36p -1 reviewed missense c.637 p.H213Y 0 NULL "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors ALG10B 144245 broad.mit.edu 36 12 36997004 36997004 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 36997004 36997004 C A SNP ALG10B NM_001013620 human genbank 54_36p 1 validated missense c.42 p.S14R 1 NULL HMMPfam_DIE2_ALG10 - no_errors ALG10B 144245 broad.mit.edu 36 12 36997041 36997041 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 36997041 36997041 T A SNP ALG10B NM_001013620 human genbank 54_36p 1 validated missense c.79 p.F27I 1 NULL HMMPfam_DIE2_ALG10 - no_errors ALG10B 144245 broad.mit.edu 36 12 37000505 37000505 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 37000505 37000505 G T SNP ALG10B NM_001013620 human genbank 54_36p 1 validated missense c.645 p.K215N 1 HMMPfam_DIE2_ALG10 HMMPfam_DIE2_ALG10 - no_errors ALG10B 144245 broad.mit.edu 36 12 37000607 37000607 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 37000607 37000607 G A SNP ALG10B NM_001013620 human genbank 54_36p 1 validated missense c.747 p.M249I 0.39 HMMPfam_DIE2_ALG10 HMMPfam_DIE2_ALG10 - no_errors KIF21A 55605 broad.mit.edu 36 12 37998229 37998229 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 37998229 37998229 G A SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.3782 p.S1261F 1 superfamily_WD40 repeat-like "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors KIF21A 55605 broad.mit.edu 36 12 38020341 38020341 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 38020341 38020341 G A SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.2164 p.L722F 1 superfamily_WD40 repeat-like "HMMSmart_SM00320,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_Prefoldin,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors C12orf40 283461 broad.mit.edu 36 12 38330387 38330387 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 38330387 38330387 C T SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated missense c.650 p.T217I 0 NULL NULL - no_errors C12orf40 283461 broad.mit.edu 36 12 38362848 38362848 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 38362848 38362848 C A SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated missense c.855 p.N285K 0.79 NULL NULL - no_errors C12orf40 283461 broad.mit.edu 36 12 38362935 38362935 + Silent SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 38362935 38362935 G A SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated silent c.942 p.R314 0 NULL NULL - no_errors C12orf40 283461 broad.mit.edu 36 12 38363090 38363090 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 38363090 38363090 G T SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated missense c.1097 p.S366I 0.01 NULL NULL - no_errors C12orf40 283461 broad.mit.edu 36 12 38401072 38401072 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 38401072 38401072 T G SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated missense c.1711 p.C571G 0.03 NULL NULL - no_errors LRRK2 120892 broad.mit.edu 36 12 38954744 38954744 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 38954744 38954744 A C SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.1749 p.E583D 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2" - no_errors LRRK2 120892 broad.mit.edu 36 12 38979286 38979286 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 38979286 38979286 T A SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed nonsense c.3456 p.C1152* 0.47 "HMMPfam_LRR_1,superfamily_SSF52058" "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 broad.mit.edu 36 12 38982936 38982936 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 38982936 38982936 T C SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.3575 p.I1192T 1 superfamily_SSF52058 "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 broad.mit.edu 36 12 38990519 38990519 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 38990519 38990519 C T SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.4337 p.P1446L 1 "HMMPfam_Miro,superfamily_SSF52540" "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 broad.mit.edu 36 12 38994218 38994218 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 38994218 38994218 G A SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.4714 p.A1572T 1 NULL "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 broad.mit.edu 36 12 39002201 39002201 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 39002201 39002201 C A SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.5268 p.D1756E 0.44 NULL "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 broad.mit.edu 36 12 39002427 39002427 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 39002427 39002427 C T SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.5357 p.S1786F 1 NULL "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors CNTN1 1272 broad.mit.edu 36 12 39623793 39623793 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 39623793 39623793 G C SNP CNTN1 NM_001843 human genbank 54_36p 1 reviewed missense c.1507 p.D503H 1 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors CNTN1 1272 broad.mit.edu 36 12 39694366 39694366 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 39694366 39694366 C T SNP CNTN1 NM_001843 human genbank 54_36p 1 reviewed missense c.2183 p.A728V 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors PDZRN4 29951 broad.mit.edu 36 12 40232766 40232766 + Silent SNP C C A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 40232766 40232766 C A SNP PDZRN4 NM_013377 human genbank 54_36p 1 validated silent c.471 p.G157 0.91 "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors PRICKLE1 144165 broad.mit.edu 36 12 41140237 41140237 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 41140237 41140237 T C SNP PRICKLE1 NM_153026 human genbank 54_36p -1 validated missense c.2137 p.I713V 0.02 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors ADAMTS20 80070 broad.mit.edu 36 12 42110486 42110486 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 42110486 42110486 T A SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.3317 p.E1106V 0.5 "HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_TSP-1 type 1 repeat" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors IRAK4 51135 broad.mit.edu 36 12 42448338 42448338 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 12 42448338 42448338 A G SNP IRAK4 NM_016123 human genbank 54_36p 1 reviewed missense c.157 p.I53V 1 superfamily_DEATH domain "superfamily_DEATH domain,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" - no_errors ANO6 196527 broad.mit.edu 36 12 44083507 44083507 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 44083507 44083507 C T SNP ANO6 NM_001025356 human genbank 54_36p 1 validated missense c.1801 p.L601F 1 NULL HMMPfam_DUF590 - no_errors ARID2 196528 broad.mit.edu 36 12 44516673 44516673 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 12 44516673 44516673 G A SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.740 p.R247H 1 NULL "HMMPfam_ARID,superfamily_ARID-like,HMMSmart_SM00501,superfamily_Winged helix DNA-binding domain,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARID2 196528 broad.mit.edu 36 12 44531603 44531603 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 44531603 44531603 C T SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.3430 p.P1144S 0.99 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Winged helix DNA-binding domain" - no_errors SLC38A1 81539 broad.mit.edu 36 12 44887277 44887277 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 44887277 44887277 C T SNP SLC38A1 NM_001077484 human genbank 54_36p -1 validated missense c.491 p.S164N 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors SLC38A4 55089 broad.mit.edu 36 12 45456983 45456983 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 45456983 45456983 G A SNP SLC38A4 NM_018018 human genbank 54_36p -1 validated missense c.1145 p.A382V 1 HMMPfam_Aa_trans "HMMPfam_Aa_trans,PatternScan_RIBOSOMAL_L30" - no_errors SLC38A4 55089 broad.mit.edu 36 12 45459712 45459712 + Silent SNP A A C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 45459712 45459712 A C SNP SLC38A4 NM_018018 human genbank 54_36p -1 validated silent c.666 p.L222 1 HMMPfam_Aa_trans "HMMPfam_Aa_trans,PatternScan_RIBOSOMAL_L30" - no_errors SLC38A4 55089 broad.mit.edu 36 12 45468075 45468075 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 45468075 45468075 C T SNP SLC38A4 NM_018018 human genbank 54_36p -1 validated missense c.217 p.G73R 1 HMMPfam_Aa_trans "HMMPfam_Aa_trans,PatternScan_RIBOSOMAL_L30" - no_errors FAM113B 91523 broad.mit.edu 36 12 45916107 45916107 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 45916107 45916107 C T SNP FAM113B NM_138371 human genbank 54_36p 1 predicted missense c.994 p.R332W 0.01 NULL superfamily_SGNH hydrolase - no_errors FAM113B 91523 broad.mit.edu 36 12 45916217 45916217 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 45916217 45916217 C T SNP FAM113B ENST00000330951 human ensembl 54_36p 1 known missense c.635 p.S212L 0 NULL NULL - no_errors RPAP3 79657 broad.mit.edu 36 12 46377703 46377703 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 46377703 46377703 A C SNP RPAP3 NM_024604 human genbank 54_36p -1 reviewed missense c.361 p.S121A 1 NULL "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" - no_errors ENDOU 8909 broad.mit.edu 36 12 46390931 46390931 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 46390931 46390931 C T SNP P11 NM_006025 human genbank 54_36p -1 reviewed missense c.1031 p.R344Q 1 NULL "HMMPfam_Somatomedin_B,HMMSmart_SO,superfamily_SSF90188,PatternScan_SMB_1,HMMPfam_XendoU" - no_errors VDR 7421 broad.mit.edu 36 12 46537571 46537571 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 46537571 46537571 C A SNP VDR NM_000376 human genbank 54_36p -1 reviewed missense c.445 p.D149Y 0.98 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors VDR 7421 broad.mit.edu 36 12 46537578 46537578 + Silent SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 46537578 46537578 G C SNP VDR NM_000376 human genbank 54_36p -1 reviewed silent c.438 p.T146 1 superfamily_Nuclear receptor ligand-binding domain "HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors PFKM 5213 broad.mit.edu 36 12 46815382 46815382 + Silent SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 46815382 46815382 C G SNP PFKM NM_000289 human genbank 54_36p 1 validated silent c.885 p.V295 0.99 "HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE" "HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE" - no_errors H1FNT 341567 broad.mit.edu 36 12 47010040 47010040 + Silent SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 47010040 47010040 G A SNP H1FNT NM_181788 human genbank 54_36p 1 provisional silent c.699 p.K233 0.22 NULL NULL - no_errors ZNF641 121274 broad.mit.edu 36 12 47025406 47025406 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 47025406 47025406 A G SNP ZNF641 NM_152320 human genbank 54_36p -1 provisional missense c.437 p.V146A 1 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CCNT1 904 broad.mit.edu 36 12 47374193 47374193 + Silent SNP A A C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 47374193 47374193 A C SNP CCNT1 NM_001240 human genbank 54_36p -1 reviewed silent c.1071 p.L357 0.84 NULL "PatternScan_CYCLINS,superfamily_Cyclin_like,HMMPfam_Cyclin_N,HMMSmart_CYCLIN" - no_errors RND1 27289 broad.mit.edu 36 12 47541050 47541050 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 47541050 47541050 C A SNP RND1 NM_014470 human genbank 54_36p -1 provisional missense c.450 p.E150D 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors CCDC65 85478 broad.mit.edu 36 12 47601482 47601482 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 47601482 47601482 C G SNP CCDC65 NM_033124 human genbank 54_36p 1 validated missense c.1444 p.P482A 0 NULL NULL - no_errors MLL2 8085 broad.mit.edu 36 12 47718328 47718328 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 47718328 47718328 G A SNP MLL2 NM_003482 human genbank 54_36p -1 validated silent c.9078 p.G3026 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL2 8085 broad.mit.edu 36 12 47723920 47723920 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 47723920 47723920 G A SNP MLL2 NM_003482 human genbank 54_36p -1 validated nonsense c.5317 p.Q1773* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DNAJC22 79962 broad.mit.edu 36 12 48029456 48029456 + Silent SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 48029456 48029456 C T SNP DNAJC22 NM_024902 human genbank 54_36p 1 provisional silent c.534 p.L178 0.53 NULL "PatternScan_DNAJ_1,superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ" - no_errors FMNL3 91010 broad.mit.edu 36 12 48332205 48332205 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 48332205 48332205 T C SNP FMNL3 NM_175736 human genbank 54_36p -1 validated missense c.1381 p.K461E 1 HMMPfam_Drf_FH3 "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors BCDIN3D 144233 broad.mit.edu 36 12 48518700 48518700 + Frame_Shift_Del DEL C - C novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 48518700 48518700 C - DEL BCDIN3D NM_181708 human genbank 54_36p -1 provisional frame_shift_del c.600 p.W200fs 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Bin3" "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Bin3" "(deletion:cds_exon[48518421,48519065])" no_errors AQP2 359 broad.mit.edu 36 12 48634705 48634705 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 48634705 48634705 A T SNP AQP2 NM_000486 human genbank 54_36p 1 reviewed missense c.551 p.N184I 1 "superfamily_MIP,HMMPfam_MIP" "superfamily_MIP,HMMPfam_MIP,PatternScan_MIP" - no_errors ACCN2 41 broad.mit.edu 36 12 48758091 48758091 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 48758091 48758091 A T SNP ACCN2 NM_020039 human genbank 54_36p 1 reviewed missense c.751 p.S251C 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors DIP2B 57609 broad.mit.edu 36 12 49355378 49355378 + Splice_Site SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 49355378 49355378 G C SNP DIP2B NM_173602 human genbank 54_36p 1 validated splice_site c.797-1 e7-1 1 - - - no_errors DIP2B 57609 broad.mit.edu 36 12 49378405 49378405 + Silent SNP A A G novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 49378405 49378405 A G SNP DIP2B NM_173602 human genbank 54_36p 1 validated silent c.2076 p.P692 0.99 superfamily_Acetyl-CoA synthetase-like "HMMPfam_DMAP_binding,superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" - no_errors ATF1 466 broad.mit.edu 36 12 49499695 49499695 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 49499695 49499695 C G SNP ATF1 NM_005171 human genbank 54_36p 1 validated missense c.682 p.R228G 1 "HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" "HMMPfam_pKID,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors TMPRSS12 283471 broad.mit.edu 36 12 49523911 49523911 + Silent SNP T T A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 49523911 49523911 T A SNP TMPRSS12 NM_182559 human genbank 54_36p 1 validated silent c.207 p.L69 0 superfamily_Trypsin-like serine proteases "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TFCP2 7024 broad.mit.edu 36 12 49798741 49798741 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 49798741 49798741 T A SNP TFCP2 NM_005653 human genbank 54_36p -1 provisional missense c.204 p.Q68H 1 HMMPfam_CP2 "HMMPfam_CP2,superfamily_SAM/Pointed domain" - no_errors POU6F1 5463 broad.mit.edu 36 12 49870461 49870461 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 49870461 49870461 C A SNP POU6F1 NM_002702 human genbank 54_36p -1 validated missense c.742 p.A248S 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors GALNT6 11226 broad.mit.edu 36 12 50034495 50034495 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 50034495 50034495 C T SNP GALNT6 NM_007210 human genbank 54_36p -1 reviewed missense c.1804 p.D602N 0.11 "superfamily_RicinB_like,HMMSmart_RICIN,HMMPfam_Ricin_B_lectin" "superfamily_SSF53448,HMMPfam_Glycos_transf_2,superfamily_RicinB_like,HMMSmart_RICIN,HMMPfam_Ricin_B_lectin" - no_errors GALNT6 11226 broad.mit.edu 36 12 50039348 50039348 + Silent SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 50039348 50039348 G C SNP GALNT6 NM_007210 human genbank 54_36p -1 reviewed silent c.1203 p.P401 1 superfamily_SSF53448 "HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,HMMPfam_Glycos_transf_2,superfamily_RicinB_like,superfamily_SSF53448" - no_errors GALNT6 11226 broad.mit.edu 36 12 50059624 50059624 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 50059624 50059624 T C SNP GALNT6 NM_007210 human genbank 54_36p -1 reviewed missense c.209 p.K70R 1 NULL "HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,HMMPfam_Glycos_transf_2,superfamily_RicinB_like,superfamily_SSF53448" - no_errors SLC4A8 9498 broad.mit.edu 36 12 50143749 50143749 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 50143749 50143749 C G SNP SLC4A8 NM_001039960 human genbank 54_36p 1 validated missense c.1333 p.L445V 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp" - no_errors SLC4A8 9498 broad.mit.edu 36 12 50154489 50154489 + Silent SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 50154489 50154489 G T SNP SLC4A8 NM_001039960 human genbank 54_36p 1 validated silent c.2001 p.L667 0.98 HMMPfam_HCO3_cotransp "HMMPfam_HCO3_cotransp,HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein" - no_errors SCN8A 6334 broad.mit.edu 36 12 50401812 50401812 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 50401812 50401812 C A SNP SCN8A NM_014191 human genbank 54_36p 1 validated nonsense c.1851 p.Y617* 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_ODR_DC_2_1,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN8A 6334 broad.mit.edu 36 12 50470514 50470514 + Silent SNP G G C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 50470514 50470514 G C SNP SCN8A NM_014191 human genbank 54_36p 1 validated silent c.4485 p.L1495 1 NULL "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 broad.mit.edu 36 12 50486752 50486752 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 50486752 50486752 C A SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.5215 p.P1739T 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 broad.mit.edu 36 12 50487072 50487072 + Silent SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 50487072 50487072 G A SNP SCN8A NM_014191 human genbank 54_36p 1 validated silent c.5535 p.L1845 1 NULL "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 broad.mit.edu 36 12 50487199 50487199 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 50487199 50487199 A T SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.5662 p.T1888S 1 NULL "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors ACVR1B 91 broad.mit.edu 36 12 50664218 50664218 + Splice_Site SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 50664218 50664218 G C SNP ACVR1B NM_004302 human genbank 54_36p 1 reviewed splice_site c.979+1 e5+1 1 - - - no_errors C12orf44 60673 broad.mit.edu 36 12 50753912 50753912 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 50753912 50753912 G A SNP C12orf44 NM_001098673 human genbank 54_36p 1 validated missense c.211 p.E71K 1 HMMPfam_DUF1649 HMMPfam_DUF1649 - no_errors KRT85 3891 broad.mit.edu 36 12 51047140 51047140 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51047140 51047140 G A SNP KRT85 NM_002283 human genbank 54_36p -1 reviewed missense c.317 p.T106M 1 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT82 3888 broad.mit.edu 36 12 51083809 51083821 + Frame_Shift_Del DEL ACGCGGTCCCCGG - ACGCGGTCCCCGG novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W ACGCGGTCCCCGG ACGCGGTCCCCGG - - ACGCGGTCCCCGG ACGCGGTCCCCGG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 51083809 51083821 ACGCGGTCCCCGG - DEL KRT82 NM_033033 human genbank 54_36p -1 reviewed frame_shift_del c.563_551 p.S184fs 0.003:0.003:0.003:0.153:0.233:0.240:0.901:0.906:0.496:0.540:0.465:0.305:0.685 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" "(deletion:cds_exon[51083752,51083960])" no_errors KRT6B 3854 broad.mit.edu 36 12 51129602 51129602 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51129602 51129602 C G SNP KRT6B NM_005555 human genbank 54_36p -1 reviewed missense c.995 p.S332T 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6B 3854 broad.mit.edu 36 12 51131927 51131927 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 51131927 51131927 T C SNP KRT6B NM_005555 human genbank 54_36p -1 reviewed missense c.203 p.K68R 0.97 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6C 3853 broad.mit.edu 36 12 51149845 51149845 + Silent SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51149845 51149845 G A SNP KRT6C NM_173086 human genbank 54_36p -1 validated silent c.1300 p.L434 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6C 3853 broad.mit.edu 36 12 51151470 51151470 + Splice_Site SNP A A G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51151470 51151470 A G SNP KRT6C NM_173086 human genbank 54_36p -1 validated splice_site c.912+2 e4+2 1 - - - no_errors KRT6C 3853 broad.mit.edu 36 12 51153609 51153609 + Frame_Shift_Del DEL A - A rs61740354 Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 51153609 51153609 A - DEL KRT6C NM_173086 human genbank 54_36p -1 validated frame_shift_del c.180 p.L61fs 0.99 NULL "HMMPfam_Filament,PatternScan_IF" "(deletion:cds_exon[51153249,51153788])" no_errors KRT6A 3853 broad.mit.edu 36 12 51167847 51167847 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51167847 51167847 C A SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed missense c.1619 p.S540I 0.47 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6A 3853 broad.mit.edu 36 12 51171200 51171200 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51171200 51171200 C T SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed missense c.779 p.R260H 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT72 140807 broad.mit.edu 36 12 51267845 51267845 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51267845 51267845 T G SNP KRT72 NM_080747 human genbank 54_36p -1 provisional missense c.1147 p.K383Q 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT72 140807 broad.mit.edu 36 12 51267860 51267860 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51267860 51267860 C T SNP KRT72 NM_080747 human genbank 54_36p -1 provisional missense c.1132 p.G378R 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT72 140807 broad.mit.edu 36 12 51270960 51270960 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51270960 51270960 G T SNP KRT72 NM_080747 human genbank 54_36p -1 provisional missense c.1016 p.T339N 0.29 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT72 140807 broad.mit.edu 36 12 51279125 51279125 + Silent SNP G G T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51279125 51279125 G T SNP KRT72 NM_080747 human genbank 54_36p -1 provisional silent c.465 p.T155 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT73 319101 broad.mit.edu 36 12 51298331 51298331 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51298331 51298331 G A SNP KRT73 NM_175068 human genbank 54_36p -1 provisional missense c.245 p.A82V 0.99 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT77 374454 broad.mit.edu 36 12 51372607 51372614 + Frame_Shift_Del DEL AGGTCCTG - AGGTCCTG novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D AGGTCCTG AGGTCCTG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 51372607 51372614 AGGTCCTG - DEL KRT77 NM_175078 human genbank 54_36p -1 validated frame_shift_del c.1292_1285 p.Q429fs 0.992:0.933:0.874:0.889:0.861:0.205:0.230:0.254 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" "(deletion:cds_exon[51372472,51372692])" no_errors KRT4 3851 broad.mit.edu 36 12 51487870 51487870 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51487870 51487870 C A SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed nonsense c.1393 p.E465* 1 HMMPfam_Filament "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT4 3851 broad.mit.edu 36 12 51493696 51493696 + Silent SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51493696 51493696 G A SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed silent c.636 p.R212 0.25 HMMPfam_Filament "superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF" - no_errors KRT4 3851 broad.mit.edu 36 12 51494186 51494186 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 12 51494186 51494186 C G SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed missense c.146 p.R49P 0.06 NULL "superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF" - no_errors KRT79 338785 broad.mit.edu 36 12 51513997 51513997 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51513997 51513997 A T SNP KRT79 NM_175834 human genbank 54_36p -1 validated missense c.315 p.F105L 0.08 NULL "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT78 196374 broad.mit.edu 36 12 51524660 51524660 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51524660 51524660 C A SNP KRT78 NM_173352 human genbank 54_36p -1 reviewed nonsense c.871 p.E291* 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT78 196374 broad.mit.edu 36 12 51528647 51528647 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51528647 51528647 G A SNP KRT78 NM_173352 human genbank 54_36p -1 reviewed missense c.335 p.T112I 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT8 3856 broad.mit.edu 36 12 51579919 51579919 + Silent SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51579919 51579919 G A SNP KRT8 NM_002273 human genbank 54_36p -1 reviewed silent c.888 p.H296 1 "HMMPfam_Filament,superfamily_Prefoldin" "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors SOAT2 8435 broad.mit.edu 36 12 51795457 51795457 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51795457 51795457 G C SNP SOAT2 NM_003578 human genbank 54_36p 1 reviewed missense c.460 p.D154H 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors CSAD 51380 broad.mit.edu 36 12 51840202 51840202 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 51840202 51840202 G A SNP CSAD NM_015989 human genbank 54_36p -1 validated missense c.1135 p.R379W 0.79 "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC" "superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC" - no_errors ITGB7 3695 broad.mit.edu 36 12 51876209 51876209 + Silent SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51876209 51876209 G A SNP ITGB7 NM_000889 human genbank 54_36p -1 provisional silent c.858 p.F286 1 "HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like" ############################################################################################################################################################################################################################################################### - no_errors ITGB7 3695 broad.mit.edu 36 12 51877565 51877565 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51877565 51877565 C T SNP ITGB7 NM_000889 human genbank 54_36p -1 provisional missense c.553 p.V185I 0.62 "HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like" ############################################################################################################################################################################################################################################################### - no_errors ESPL1 9700 broad.mit.edu 36 12 51962339 51962339 + Silent SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 51962339 51962339 C T SNP ESPL1 NM_012291 human genbank 54_36p 1 validated silent c.2644 p.L882 0.99 NULL HMMPfam_Peptidase_C50 - no_errors ESPL1 9700 broad.mit.edu 36 12 51970987 51970987 + Silent SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 51970987 51970987 C G SNP ESPL1 NM_012291 human genbank 54_36p 1 validated silent c.5460 p.S1820 0.8 HMMPfam_Peptidase_C50 HMMPfam_Peptidase_C50 - no_errors AAAS 8086 broad.mit.edu 36 12 51987696 51987696 + Silent SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 51987696 51987696 G A SNP AAAS NM_015665 human genbank 54_36p -1 validated silent c.1485 p.S495 1 NULL "HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors SP1 6667 broad.mit.edu 36 12 52086700 52086700 + Silent SNP A A T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 52086700 52086700 A T SNP SP1 NM_138473 human genbank 54_36p 1 validated silent c.1740 p.A580 1 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors MAP3K12 7786 broad.mit.edu 36 12 52162059 52162059 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 52162059 52162059 G A SNP MAP3K12 NM_006301 human genbank 54_36p -1 reviewed missense c.2414 p.S805L 0.82 NULL "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors ATP5G2 517 broad.mit.edu 36 12 52345445 52345445 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 52345445 52345445 C T SNP ATP5G2 NM_005176 human genbank 54_36p -1 reviewed missense c.517 p.A173T 1 "superfamily_ATPase_F0/V0_c,HMMPfam_ATP-synt_C,PatternScan_ATPASE_C" "superfamily_ATPase_F0/V0_c,HMMPfam_ATP-synt_C,PatternScan_ATPASE_C" - no_errors CALCOCO1 57658 broad.mit.edu 36 12 52405214 52405214 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 52405214 52405214 T C SNP CALCOCO1 NM_020898 human genbank 54_36p -1 validated missense c.80 p.N27S 1 HMMPfam_CALCOCO1 HMMPfam_CALCOCO1 - no_errors HOXC9 3225 broad.mit.edu 36 12 52682671 52682671 + Silent SNP A A G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 52682671 52682671 A G SNP HOXC9 NM_006897 human genbank 54_36p 1 reviewed silent c.729 p.R243 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" "HMMPfam_Hox9_act,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXC8 3224 broad.mit.edu 36 12 52691424 52691424 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 52691424 52691424 A C SNP HOXC8 NM_022658 human genbank 54_36p 1 reviewed missense c.721 p.K241Q 1 NULL "superfamily_Homeodomain-like,PatternScan_ANTENNAPEDIA,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXC6 3223 broad.mit.edu 36 12 52708799 52708799 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 52708799 52708799 C A SNP HOXC6 NM_004503 human genbank 54_36p 1 reviewed missense c.227 p.S76Y 1 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HOXC6 3223 broad.mit.edu 36 12 52709744 52709744 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 52709744 52709744 A C SNP HOXC6 NM_004503 human genbank 54_36p 1 reviewed missense c.439 p.I147L 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,PatternScan_ANTENNAPEDIA,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors ZNF385A 25946 broad.mit.edu 36 12 53051593 53051593 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 53051593 53051593 G A SNP ZNF385A NM_015481 human genbank 54_36p -1 validated missense c.535 p.R179W 1 HMMSmart_SM00451 "HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors NCKAP1L 3071 broad.mit.edu 36 12 53197611 53197611 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 53197611 53197611 T C SNP NCKAP1L NM_005337 human genbank 54_36p 1 reviewed missense c.1123 p.F375L 1 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors PDE1B 5153 broad.mit.edu 36 12 53256677 53256677 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 53256677 53256677 G A SNP PDE1B NM_000924 human genbank 54_36p 1 provisional missense c.1432 p.V478M 1 superfamily_SSF109604 "HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors DCD 117159 broad.mit.edu 36 12 53324778 53324778 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 53324778 53324778 C G SNP DCD NM_053283 human genbank 54_36p -1 reviewed missense c.319 p.D107H 0 NULL NULL - no_errors NEUROD4 58158 broad.mit.edu 36 12 53706805 53706805 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 53706805 53706805 C T SNP NEUROD4 NM_021191 human genbank 54_36p 1 validated silent c.315 p.D105 0.97 "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors OR10A7 121364 broad.mit.edu 36 12 53901776 53901776 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 53901776 53901776 G T SNP OR10A7 NM_001005280 human genbank 54_36p 1 provisional missense c.701 p.R234L 0.05 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10A7 121364 broad.mit.edu 36 12 53901976 53901976 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 53901976 53901976 G A SNP OR10A7 NM_001005280 human genbank 54_36p 1 provisional missense c.901 p.V301I 0.07 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR6C1 390321 broad.mit.edu 36 12 54001088 54001088 + Silent SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54001088 54001088 T G SNP OR6C1 NM_001005182 human genbank 54_36p 1 provisional silent c.438 p.S146 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6C75 390323 broad.mit.edu 36 12 54045240 54045240 + Missense_Mutation SNP A A G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54045240 54045240 A G SNP OR6C75 NM_001005497 human genbank 54_36p 1 provisional missense c.79 p.I27V 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ITGA7 3679 broad.mit.edu 36 12 54378838 54378838 + Silent SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54378838 54378838 G A SNP ITGA7 NM_002206 human genbank 54_36p -1 reviewed silent c.921 p.P307 0.95 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors GDF11 10220 broad.mit.edu 36 12 54423637 54423637 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54423637 54423637 G A SNP GDF11 NM_005811 human genbank 54_36p 1 reviewed silent c.270 p.K90 1 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors MMP19 4327 broad.mit.edu 36 12 54520789 54520801 + Frame_Shift_Del DEL CCAGCCTGCACCT - CCAGCCTGCACCT novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W CCAGCCTGCACCT CCAGCCTGCACCT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54520789 54520801 CCAGCCTGCACCT - DEL MMP19 NM_002429 human genbank 54_36p -1 reviewed frame_shift_del c.449_437 p.E146fs 1.000:1.000:0.998:0.998:0.996:0.990:0.991:0.985:0.991:1.000:1.000:1.000:1.000 "HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Metalloproteases (zincins) catalytic domain" "superfamily_PGBD-like,HMMPfam_PG_binding_1,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Metalloproteases (zincins) catalytic domain,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" "(deletion:cds_exon[54520718,54520933])" no_errors DGKA 1606 broad.mit.edu 36 12 54632843 54632843 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54632843 54632843 A C SNP DGKA NM_001345 human genbank 54_36p 1 reviewed missense c.1802 p.N601T 1 "HMMPfam_DAGK_acc,HMMSmart_SM00045" "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors SILV 6490 broad.mit.edu 36 12 54646039 54646039 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54646039 54646039 G C SNP SILV NM_006928 human genbank 54_36p -1 validated missense c.24 p.C8W 0.32 NULL "superfamily_PKD domain,HMMPfam_PKD,HMMSmart_SM00089" - no_errors ERBB3 2065 broad.mit.edu 36 12 54763866 54763866 + Silent SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54763866 54763866 G T SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed silent c.147 p.L49 0.44 superfamily_L domain-like "superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" - no_errors ESYT1 23344 broad.mit.edu 36 12 54817331 54817331 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54817331 54817331 G C SNP FAM62A NM_015292 human genbank 54_36p 1 provisional missense c.1845 p.W615C 0 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ESYT1 23344 broad.mit.edu 36 12 54817624 54817624 + Silent SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54817624 54817624 G A SNP FAM62A NM_015292 human genbank 54_36p 1 provisional silent c.2013 p.K671 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors ESYT1 23344 broad.mit.edu 36 12 54818532 54818532 + Silent SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54818532 54818532 G A SNP FAM62A NM_015292 human genbank 54_36p 1 provisional silent c.2415 p.E805 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors MYL6 4637 broad.mit.edu 36 12 54839636 54839636 + Splice_Site SNP A A G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54839636 54839636 A G SNP MYL6 NM_021019 human genbank 54_36p 1 reviewed splice_site c.32-2 e3-2 1 - - - no_errors SMARCC2 6601 broad.mit.edu 36 12 54854765 54854765 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54854765 54854765 T A SNP SMARCC2 NM_003075 human genbank 54_36p -1 reviewed missense c.1433 p.Q478L 1 HMMPfam_SWIRM "superfamily_BRCT domain,HMMSmart_SM00298,HMMPfam_SWIRM,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors OBFC2B 79035 broad.mit.edu 36 12 54909127 54909127 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54909127 54909127 C A SNP OBFC2B NM_024068 human genbank 54_36p 1 validated missense c.499 p.P167T 0.91 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti" - no_errors SLC39A5 283375 broad.mit.edu 36 12 54916704 54916704 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54916704 54916704 G A SNP SLC39A5 NM_173596 human genbank 54_36p 1 validated missense c.1111 p.G371S 0.99 HMMPfam_Zip HMMPfam_Zip - no_errors ANKRD52 283373 broad.mit.edu 36 12 54934255 54934255 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54934255 54934255 C G SNP ANKRD52 NM_173595 human genbank 54_36p -1 validated missense c.769 p.E257Q 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors COQ10A 93058 broad.mit.edu 36 12 54947934 54947934 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 54947934 54947934 G C SNP COQ10A NM_144576 human genbank 54_36p 1 validated missense c.224 p.G75A 1 NULL HMMPfam_Polyketide_cyc - no_errors CS 1431 broad.mit.edu 36 12 54953669 54953669 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 54953669 54953669 T C SNP CS NM_004077 human genbank 54_36p -1 reviewed missense c.1199 p.N400S 1 "superfamily_Citrate_synthase_core,HMMPfam_Citrate_synt" "superfamily_Citrate_synthase_core,HMMPfam_Citrate_synt,PatternScan_CITRATE_SYNTHASE" - no_errors PAN2 9924 broad.mit.edu 36 12 55003406 55003406 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55003406 55003406 G T SNP PAN2 NM_014871 human genbank 54_36p -1 validated missense c.2301 p.H767Q 0.01 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_WD40 repeat-like,superfamily_Cysteine proteinases,HMMPfam_UCH,superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T" - no_errors TIMELESS 8914 broad.mit.edu 36 12 55103349 55103349 + Silent SNP A A G novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55103349 55103349 A G SNP TIMELESS NM_003920 human genbank 54_36p -1 validated silent c.2268 p.S756 0.98 HMMPfam_TIMELESS_C "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors TIMELESS 8914 broad.mit.edu 36 12 55103642 55103642 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55103642 55103642 G A SNP TIMELESS NM_003920 human genbank 54_36p -1 validated silent c.2083 p.L695 1 NULL "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors TIMELESS 8914 broad.mit.edu 36 12 55111012 55111012 + Silent SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 12 55111012 55111012 G T SNP TIMELESS NM_003920 human genbank 54_36p -1 validated silent c.829 p.R277 1 HMMPfam_TIMELESS "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors TIMELESS 8914 broad.mit.edu 36 12 55113888 55113888 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 55113888 55113888 T A SNP TIMELESS NM_003920 human genbank 54_36p -1 validated missense c.187 p.S63C 1 HMMPfam_TIMELESS "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors SPRYD4 283377 broad.mit.edu 36 12 55149488 55149488 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 55149488 55149488 C A SNP SPRYD4 NM_207344 human genbank 54_36p 1 validated missense c.484 p.L162M 1 "HMMPfam_SPRY,HMMSmart_SM00449" "HMMPfam_SPRY,HMMSmart_SM00449" - no_errors NACA 4666 broad.mit.edu 36 12 55394411 55394411 + Splice_Site SNP A A T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 55394411 55394411 A T SNP NACA NM_005594 human genbank 54_36p -1 validated splice_site c.234+2 e3+2 1 - - - no_errors NACA 4666 broad.mit.edu 36 12 55398181 55398181 + Intron SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55398181 55398181 G A SNP NACA NM_005594 human genbank 54_36p -1 validated intronic c.71-3443 e2-3443 0 - - - no_errors NACA 4666 broad.mit.edu 36 12 55401441 55401441 + Intron SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55401441 55401441 G T SNP NACA NM_005594 human genbank 54_36p -1 validated intronic c.70+3062 e1+3062 0.01 - - - no_errors TAC3 6866 broad.mit.edu 36 12 55693716 55693716 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55693716 55693716 G T SNP TAC3 NM_013251 human genbank 54_36p -1 validated missense c.121 p.P41T 0 HMMPfam_Neurokinin_B "HMMPfam_Neurokinin_B,PatternScan_TACHYKININ" - no_errors STAT6 6778 broad.mit.edu 36 12 55787774 55787774 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 12 55787774 55787774 C T SNP STAT6 NM_003153 human genbank 54_36p -1 reviewed missense c.136 p.D46N 0.5 "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int" "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,HMMPfam_STAT_alpha,superfamily_STAT,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2,HMMSmart_SM00252" - no_errors STAT6 6778 broad.mit.edu 36 12 55788296 55788296 + Silent SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 55788296 55788296 G A SNP STAT6 NM_003153 human genbank 54_36p -1 reviewed silent c.33 p.P11 1 "HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain" "HMMPfam_SH2,HMMSmart_SM00252,superfamily_p53-like transcription factors,HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_STAT,superfamily_SH2 domain" - no_errors STAT6 6778 broad.mit.edu 36 12 55788308 55788308 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55788308 55788308 G A SNP STAT6 NM_003153 human genbank 54_36p -1 reviewed silent c.21 p.V7 1 "HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain" "HMMPfam_SH2,HMMSmart_SM00252,superfamily_p53-like transcription factors,HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_STAT,superfamily_SH2 domain" - no_errors LRP1 4035 broad.mit.edu 36 12 55874041 55874041 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55874041 55874041 G A SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.7897 p.A2633T 1 "superfamily_YWTD domain,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1" ############################################################################################################################################################################################################################################################### - no_errors LRP1 4035 broad.mit.edu 36 12 55884553 55884553 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 55884553 55884553 A G SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.11045 p.N3682S 1 "HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module" ############################################################################################################################################################################################################################################################### - no_errors SHMT2 6472 broad.mit.edu 36 12 55913664 55913664 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 55913664 55913664 C T SNP SHMT2 NM_005412 human genbank 54_36p 1 provisional missense c.1075 p.R359W 1 "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_SHMT" "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_SHMT,PatternScan_SHMT" - no_errors R3HDM2 22864 broad.mit.edu 36 12 55934959 55934959 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 55934959 55934959 A C SNP R3HDM2 NM_014925 human genbank 54_36p -1 validated missense c.1778 p.I593S 1 NULL NULL - no_errors GLI1 2735 broad.mit.edu 36 12 56150731 56150731 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 56150731 56150731 C A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.1941 p.D647E 0.65 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARHGAP9 64333 broad.mit.edu 36 12 56159424 56159424 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 56159424 56159424 C A SNP ARHGAP9 NM_032496 human genbank 54_36p -1 reviewed missense c.33 p.W11C 0.93 NULL "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_WW_Rsp5_WWP,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors MARS 4141 broad.mit.edu 36 12 56178523 56178523 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 56178523 56178523 A G SNP MARS NM_004990 human genbank 54_36p 1 reviewed missense c.941 p.Y314C 1 "superfamily_SSF52374,HMMPfam_tRNA-synt_1g" "superfamily_GST_C_like,HMMPfam_GST_C,superfamily_SSF52374,HMMPfam_tRNA-synt_1g,PatternScan_AA_TRNA_LIGASE_I,superfamily_SSF57770,superfamily_tRNAsyn_1a_bind,superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1" - no_errors DDIT3 1649 broad.mit.edu 36 12 56197383 56197383 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 56197383 56197383 A C SNP DDIT3 NM_004083 human genbank 54_36p -1 validated missense c.74 p.L25R 1 NULL "HMMSmart_SM00338,HMMPfam_bZIP_2" - no_errors MBD6 114785 broad.mit.edu 36 12 56206062 56206062 + Silent SNP C C G novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 56206062 56206062 C G SNP MBD6 NM_052897 human genbank 54_36p 1 validated silent c.1044 p.A348 1 NULL HMMPfam_MBD - no_errors DCTN2 10540 broad.mit.edu 36 12 56212815 56212815 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 56212815 56212815 C T SNP DCTN2 NM_006400 human genbank 54_36p -1 reviewed missense c.835 p.A279T 1 HMMPfam_Dynamitin HMMPfam_Dynamitin - no_errors DCTN2 10540 broad.mit.edu 36 12 56215838 56215838 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 56215838 56215838 C G SNP DCTN2 NM_006400 human genbank 54_36p -1 reviewed missense c.178 p.D60H 1 HMMPfam_Dynamitin HMMPfam_Dynamitin - no_errors KIF5A 3798 broad.mit.edu 36 12 56249080 56249080 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 56249080 56249080 C T SNP KIF5A NM_004984 human genbank 54_36p 1 reviewed missense c.782 p.A261V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_Prefoldin" - no_errors OS9 10956 broad.mit.edu 36 12 56398319 56398319 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 56398319 56398319 G C SNP OS9 NM_006812 human genbank 54_36p 1 reviewed missense c.1258 p.D420H 0.03 NULL "HMMPfam_PRKCSH,superfamily_Mannose 6-phosphate receptor domain" - no_errors XRCC6BP1 91419 broad.mit.edu 36 12 56627075 56627075 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 56627075 56627075 C T SNP XRCC6BP1 NM_033276 human genbank 54_36p 1 provisional silent c.264 p.C88 1 HMMPfam_Peptidase_M76 "HMMPfam_Peptidase_M76,PatternScan_ZINC_PROTEASE" - no_errors SLC16A7 9194 broad.mit.edu 36 12 58455155 58455155 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 58455155 58455155 A G SNP SLC16A7 NM_004731 human genbank 54_36p 1 provisional missense c.812 p.Y271C 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors USP15 9958 broad.mit.edu 36 12 60994859 60994859 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 60994859 60994859 G T SNP USP15 NM_006313 human genbank 54_36p 1 provisional missense c.370 p.V124L 1 HMMPfam_DUF1055 "HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_RNA3apos_cycl/enolpyr_transf_A/B,PatternScan_UCH_2_2" - no_errors USP15 9958 broad.mit.edu 36 12 61071288 61071288 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 61071288 61071288 A C SNP USP15 NM_006313 human genbank 54_36p 1 provisional missense c.1958 p.D653A 1 "HMMPfam_UCH,superfamily_SSF54001" "HMMPfam_UCH,HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_RNA3apos_cycl/enolpyr_transf_A/B,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001" - no_errors MON2 23041 broad.mit.edu 36 12 61258508 61258508 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 61258508 61258508 C A SNP MON2 NM_015026 human genbank 54_36p 1 validated missense c.4531 p.L1511I 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_DUF1981" - no_errors DPY19L2 283417 broad.mit.edu 36 12 62348317 62348317 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 62348317 62348317 G C SNP DPY19L2 NM_173812 human genbank 54_36p -1 validated missense c.124 p.L42V 0 NULL HMMPfam_DUF2211 - no_errors SRGAP1 57522 broad.mit.edu 36 12 62808180 62808180 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 62808180 62808180 C G SNP SRGAP1 NM_020762 human genbank 54_36p 1 validated missense c.2813 p.S938C 1 NULL "HMMPfam_FCH,HMMSmart_SM00055,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors C12orf66 144577 broad.mit.edu 36 12 62895970 62895970 + Silent SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 62895970 62895970 G A SNP C12orf66 NM_152440 human genbank 54_36p -1 validated silent c.276 p.T92 1 HMMPfam_DUF2003 HMMPfam_DUF2003 - no_errors C12orf56 115749 broad.mit.edu 36 12 62955010 62955010 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 62955010 62955010 A C SNP C12orf56 NM_001099676 human genbank 54_36p -1 validated missense c.1042 p.L348V 1 NULL NULL - no_errors XPOT 11260 broad.mit.edu 36 12 63100528 63100528 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 63100528 63100528 G C SNP XPOT NM_007235 human genbank 54_36p 1 reviewed missense c.803 p.C268S 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_Xpo1" - no_errors XPOT 11260 broad.mit.edu 36 12 63110318 63110318 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 63110318 63110318 G A SNP XPOT NM_007235 human genbank 54_36p 1 reviewed missense c.1960 p.A654T 1 superfamily_ARM-type_fold "HMMPfam_Xpo1,superfamily_ARM-type_fold" - no_errors XPOT 11260 broad.mit.edu 36 12 63113523 63113523 + Silent SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 63113523 63113523 G C SNP XPOT NM_007235 human genbank 54_36p 1 reviewed silent c.2325 p.V775 0.29 superfamily_ARM-type_fold "HMMPfam_Xpo1,superfamily_ARM-type_fold" - no_errors WIF1 11197 broad.mit.edu 36 12 63757792 63757792 + Splice_Site SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 63757792 63757792 C T SNP WIF1 NM_007191 human genbank 54_36p -1 reviewed splice_site c.397+1 e3+1 1 - - - no_errors WIF1 11197 broad.mit.edu 36 12 63800463 63800463 + Splice_Site SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 63800463 63800463 C G SNP WIF1 NM_007191 human genbank 54_36p -1 reviewed splice_site c.288+1 e2+1 1 - - - no_errors LEMD3 23592 broad.mit.edu 36 12 63849783 63849783 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 63849783 63849783 G A SNP LEMD3 NM_014319 human genbank 54_36p 1 validated missense c.140 p.R47Q 1 "HMMPfam_LEM,HMMSmart_LEM,superfamily_LEM_like" "HMMPfam_LEM,HMMSmart_LEM,superfamily_LEM_like,HMMPfam_MAN1_C,superfamily_SSF54928" - no_errors GRIP1 23426 broad.mit.edu 36 12 65135508 65135508 + Silent SNP T T A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 65135508 65135508 T A SNP GRIP1 NM_021150 human genbank 54_36p -1 validated silent c.1146 p.P382 0.9 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors DYRK2 8445 broad.mit.edu 36 12 66337947 66337947 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 66337947 66337947 G A SNP DYRK2 NM_006482 human genbank 54_36p 1 reviewed silent c.993 p.S331 0.91 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MDM1 56890 broad.mit.edu 36 12 66977002 66977002 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 66977002 66977002 T A SNP MDM1 NM_017440 human genbank 54_36p -1 reviewed missense c.2000 p.Q667L 0.84 NULL NULL - no_errors MDM1 56890 broad.mit.edu 36 12 66982832 66982832 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 66982832 66982832 C A SNP MDM1 NM_017440 human genbank 54_36p -1 reviewed missense c.1807 p.D603Y 0 NULL NULL - no_errors PTPRB 5787 broad.mit.edu 36 12 69315912 69315912 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 69315912 69315912 C T SNP PTPRB NM_001109754 human genbank 54_36p -1 reviewed missense c.257 p.R86H 0 "superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin" ############################################################################################################################################################################################################################################################### - no_errors ZFC3H1 196441 broad.mit.edu 36 12 70299415 70299415 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 70299415 70299415 A C SNP ZFC3H1 NM_144982 human genbank 54_36p -1 validated missense c.5091 p.I1697M 1 NULL "HMMPfam_zf-C3H1,superfamily_Protein prenylyltransferase,HMMSmart_SM00386" - no_errors TPH2 121278 broad.mit.edu 36 12 70621660 70621660 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 70621660 70621660 C T SNP TPH2 NM_173353 human genbank 54_36p 1 reviewed silent c.135 p.D45 0.98 NULL "superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL" - no_errors TPH2 121278 broad.mit.edu 36 12 70674491 70674491 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 12 70674491 70674491 C G SNP TPH2 NM_173353 human genbank 54_36p 1 reviewed missense c.947 p.T316R 1 "PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase" "HMMPfam_ACT,PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase,superfamily_SSF55021" - no_errors TRHDE 29953 broad.mit.edu 36 12 71179595 71179595 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 71179595 71179595 C T SNP TRHDE NM_013381 human genbank 54_36p 1 reviewed silent c.1500 p.D500 0.94 "HMMPfam_Peptidase_M1,superfamily_SSF55486" "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE" - no_errors TRHDE 29953 broad.mit.edu 36 12 71179671 71179671 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 71179671 71179671 G A SNP TRHDE NM_013381 human genbank 54_36p 1 reviewed missense c.1576 p.A526T 1 "HMMPfam_Peptidase_M1,superfamily_SSF55486" "PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M1,superfamily_SSF55486,superfamily_SSF63737" - no_errors KCNC2 3747 broad.mit.edu 36 12 73887921 73887921 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 73887921 73887921 A G SNP KCNC2 NM_139137 human genbank 54_36p -1 reviewed missense c.110 p.L37P 1 "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CAPS2 84698 broad.mit.edu 36 12 73973365 73973365 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 73973365 73973365 C A SNP CAPS2 NM_032606 human genbank 54_36p -1 validated missense c.455 p.S152I 0.94 NULL "superfamily_SSF47473,HMMSmart_EFh" - no_errors GLIPR1L2 144321 broad.mit.edu 36 12 74090508 74090508 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 74090508 74090508 G C SNP GLIPR1L2 NM_152436 human genbank 54_36p 1 provisional missense c.262 p.A88P 1 "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP" "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP" - no_errors GLIPR1L2 144321 broad.mit.edu 36 12 74102998 74102998 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 74102998 74102998 G A SNP GLIPR1L2 NM_152436 human genbank 54_36p 1 provisional missense c.632 p.R211Q 0 NULL "HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular" - no_errors OSBPL8 114882 broad.mit.edu 36 12 75315633 75315633 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 75315633 75315633 G T SNP OSBPL8 NM_020841 human genbank 54_36p -1 reviewed missense c.644 p.P215H 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors E2F7 144455 broad.mit.edu 36 12 75947794 75947794 + Missense_Mutation SNP T T A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 75947794 75947794 T A SNP E2F7 NM_203394 human genbank 54_36p -1 validated missense c.1832 p.K611I 0.77 NULL "superfamily_Winged helix DNA-binding domain,HMMPfam_E2F_TDP" - no_errors E2F7 144455 broad.mit.edu 36 12 75947850 75947850 + Silent SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 75947850 75947850 A T SNP E2F7 NM_203394 human genbank 54_36p -1 validated silent c.1776 p.A592 0.7 NULL "HMMPfam_E2F_TDP,superfamily_Winged helix DNA-binding domain" - no_errors NAV3 89795 broad.mit.edu 36 12 77037611 77037611 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 77037611 77037611 C G SNP NAV3 NM_014903 human genbank 54_36p 1 validated missense c.3504 p.S1168R 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors NAV3 89795 broad.mit.edu 36 12 77040179 77040179 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 77040179 77040179 A T SNP NAV3 NM_014903 human genbank 54_36p 1 validated missense c.4078 p.T1360S 1 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMSmart_SM00382,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PAWR 5074 broad.mit.edu 36 12 78607731 78607731 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 78607731 78607731 G T SNP PAWR NM_002583 human genbank 54_36p -1 reviewed missense c.425 p.P142H 1 NULL NULL - no_errors PPP1R12A 4659 broad.mit.edu 36 12 78723566 78723566 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 78723566 78723566 G C SNP PPP1R12A NM_002480 human genbank 54_36p -1 reviewed missense c.1937 p.T646R 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors MYF5 4617 broad.mit.edu 36 12 79635167 79635167 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 79635167 79635167 G T SNP MYF5 NM_005593 human genbank 54_36p 1 validated missense c.194 p.G65V 1 "HMMPfam_Basic,HMMSmart_BASIC" "HMMPfam_Basic,HMMSmart_BASIC,superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors LIN7A 8825 broad.mit.edu 36 12 79729529 79729529 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 79729529 79729529 T C SNP LIN7A NM_004664 human genbank 54_36p -1 validated missense c.548 p.K183R 1 "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" "HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors PPFIA2 8499 broad.mit.edu 36 12 80195231 80195231 + Silent SNP T T A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 80195231 80195231 T A SNP PPFIA2 NM_003625 human genbank 54_36p -1 reviewed silent c.3306 p.I1102 1 superfamily_SAM/Pointed domain "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors TMTC2 160335 broad.mit.edu 36 12 81883627 81883627 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 81883627 81883627 G T SNP TMTC2 NM_152588 human genbank 54_36p 1 provisional missense c.1842 p.K614N 1 "superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028" "HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors TSPAN19 144448 broad.mit.edu 36 12 83941283 83941283 + Silent SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 83941283 83941283 A G SNP TSPAN19 NM_001100917 human genbank 54_36p -1 validated silent c.291 p.F97 0 HMMPfam_Tetraspannin "HMMPfam_Tetraspannin,superfamily_Tetraspanin" - no_errors LRRIQ1 84125 broad.mit.edu 36 12 83973687 83973687 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 83973687 83973687 C T SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated nonsense c.985 p.R329* 0.51 superfamily_RNI-like "superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LRRIQ1 84125 broad.mit.edu 36 12 84024434 84024434 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 84024434 84024434 T C SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated missense c.3287 p.L1096P 1 "HMMSmart_SM00369,superfamily_RNI-like" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LRRIQ1 84125 broad.mit.edu 36 12 84042003 84042003 + Frame_Shift_Del DEL A - A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 84042003 84042003 A - DEL LRRIQ1 NM_001079910 human genbank 54_36p 1 validated frame_shift_del c.3582 p.E1195fs 0.07 NULL "superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases" "(deletion:cds_exon[84041979,84042428])" no_errors ALX1 8092 broad.mit.edu 36 12 84204851 84204851 + Nonsense_Mutation SNP T T A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 84204851 84204851 T A SNP ALX1 NM_006982 human genbank 54_36p 1 reviewed nonsense c.621 p.Y207* 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors MGAT4C 25834 broad.mit.edu 36 12 84898326 84898326 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 84898326 84898326 A C SNP MGAT4C NM_013244 human genbank 54_36p -1 validated missense c.309 p.I103M 1 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors MGAT4C 25834 broad.mit.edu 36 12 84901508 84901508 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 84901508 84901508 G A SNP MGAT4C NM_013244 human genbank 54_36p -1 validated silent c.219 p.F73 1 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors C12orf50 160419 broad.mit.edu 36 12 86916075 86916075 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 86916075 86916075 G A SNP C12orf50 NM_152589 human genbank 54_36p -1 predicted nonsense c.157 p.Q53* 1 NULL NULL - no_errors C12orf29 91298 broad.mit.edu 36 12 86963564 86963564 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 86963564 86963564 G A SNP C12orf29 NM_001009894 human genbank 54_36p 1 validated missense c.496 p.A166T 1 NULL NULL - no_errors CEP290 80184 broad.mit.edu 36 12 86989785 86989785 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 86989785 86989785 G C SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.5759 p.A1920G 0.99 NULL NULL - no_errors KITLG 4254 broad.mit.edu 36 12 87436769 87436769 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 87436769 87436769 G A SNP KITLG NM_000899 human genbank 54_36p -1 reviewed missense c.199 p.H67Y 1 "HMMPfam_SCF,superfamily_4-helical cytokines" "HMMPfam_SCF,superfamily_4-helical cytokines" - no_errors POC1B 282809 broad.mit.edu 36 12 88388362 88388362 + Silent SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 88388362 88388362 C T SNP WDR51B NM_172240 human genbank 54_36p -1 provisional silent c.717 p.S239 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors GALNT4 8693 broad.mit.edu 36 12 88442087 88442087 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 88442087 88442087 C G SNP GALNT4 NM_003774 human genbank 54_36p -1 reviewed missense c.371 p.C124S 0.99 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors ATP2B1 490 broad.mit.edu 36 12 88521684 88521684 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 88521684 88521684 C G SNP ATP2B1 NM_001682 human genbank 54_36p -1 reviewed missense c.2784 p.M928I 1 "superfamily_SSF81665,HMMPfam_Cation_ATPase_C" "HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C" - no_errors CLLU1 574028 broad.mit.edu 36 12 91342744 91342744 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 91342744 91342744 T G SNP CLLU1 NM_001025233 human genbank 54_36p 1 provisional missense c.157 p.S53A 0.32 NULL NULL - no_errors PLEKHG7 440107 broad.mit.edu 36 12 91672073 91672073 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 91672073 91672073 G A SNP PLEKHG7 NM_001004330 human genbank 54_36p 1 validated missense c.392 p.R131Q 0.99 "superfamily_DH-domain,HMMPfam_RhoGEF" "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors EEA1 8411 broad.mit.edu 36 12 91716817 91716817 + Silent SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 91716817 91716817 T C SNP EEA1 NM_003566 human genbank 54_36p -1 validated silent c.2949 p.K983 0.1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors SOCS2 8835 broad.mit.edu 36 12 92492704 92492704 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 92492704 92492704 T A SNP SOCS2 NM_003877 human genbank 54_36p 1 reviewed missense c.215 p.I72N 1 "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00253,HMMPfam_SOCS_box" - no_errors TMCC3 57458 broad.mit.edu 36 12 93499754 93499754 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 93499754 93499754 C T SNP TMCC3 NM_020698 human genbank 54_36p -1 validated missense c.770 p.C257Y 1 HMMPfam_Tmemb_cc2 HMMPfam_Tmemb_cc2 - no_errors FGD6 55785 broad.mit.edu 36 12 94128424 94128424 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 94128424 94128424 C A SNP FGD6 NM_018351 human genbank 54_36p -1 validated missense c.767 p.C256F 0.1 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1" - no_errors USP44 84101 broad.mit.edu 36 12 94436201 94436218 + In_Frame_Del DEL TGCATACTTCATCCATAG - TGCATACTTCATCCATAG novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 TGCATACTTCATCCATAG TGCATACTTCATCCATAG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 94436201 94436218 TGCATACTTCATCCATAG - DEL USP44 NM_001042403 human genbank 54_36p -1 validated in_frame_del c.1999_1982 p.TMDEVC661in_frame_del 1.000:1.000:1.000:0.999:0.918:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.999:1.000 "superfamily_Cysteine proteinases,HMMPfam_UCH" "HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" "(deletion:cds_exon[94436061,94436260])" no_errors NTN4 59277 broad.mit.edu 36 12 94628389 94628389 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 94628389 94628389 C T SNP NTN4 NM_021229 human genbank 54_36p -1 validated missense c.1141 p.D381N 1 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1" "HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR" - no_errors AMDHD1 144193 broad.mit.edu 36 12 94880356 94880356 + Silent SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 94880356 94880356 C T SNP AMDHD1 NM_152435 human genbank 54_36p 1 validated silent c.906 p.A302 0.81 "superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases" "HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases" - no_errors ELK3 2004 broad.mit.edu 36 12 95164977 95164977 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 95164977 95164977 C T SNP ELK3 NM_005230 human genbank 54_36p 1 reviewed silent c.336 p.C112 0.97 superfamily_Winged helix DNA-binding domain "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors CDK17 5128 broad.mit.edu 36 12 95207165 95207165 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 95207165 95207165 C G SNP PCTK2 NM_002595 human genbank 54_36p -1 reviewed missense c.1029 p.K343N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CDK17 5128 broad.mit.edu 36 12 95212971 95212971 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 12 95212971 95212971 G C SNP PCTK2 NM_002595 human genbank 54_36p -1 reviewed missense c.934 p.R312G 1 "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CDK17 5128 broad.mit.edu 36 12 95241885 95241885 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 12 95241885 95241885 C T SNP PCTK2 NM_002595 human genbank 54_36p -1 reviewed missense c.255 p.M85I 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors TMPO 7112 broad.mit.edu 36 12 97451652 97451652 + Nonsense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 97451652 97451652 G T SNP TMPO NM_003276 human genbank 54_36p 1 provisional nonsense c.1486 p.E496* 1 NULL "HMMPfam_Thymopoietin,superfamily_LEM domain,HMMPfam_LEM,HMMSmart_SM00540" - no_errors APAF1 317 broad.mit.edu 36 12 97567504 97567504 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 12 97567504 97567504 A T SNP APAF1 NM_181861 human genbank 54_36p 1 reviewed missense c.437 p.E146V 0.99 "superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NB-ARC" "superfamily_WD40 repeat-like,HMMPfam_CARD,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NB-ARC,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors UHRF1BP1L 23074 broad.mit.edu 36 12 99021836 99021836 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 99021836 99021836 G A SNP UHRF1BP1L NM_015054 human genbank 54_36p -1 validated missense c.232 p.H78Y 1 NULL NULL - no_errors ACTR6 64431 broad.mit.edu 36 12 99122956 99122956 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 99122956 99122956 C A SNP ACTR6 NM_022496 human genbank 54_36p 1 validated missense c.176 p.P59H 1 "superfamily_Actin-like ATPase domain,HMMSmart_SM00268,HMMPfam_Actin" "superfamily_Actin-like ATPase domain,HMMSmart_SM00268,HMMPfam_Actin" - no_errors ACTR6 64431 broad.mit.edu 36 12 99136382 99136382 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 99136382 99136382 T G SNP ACTR6 NM_022496 human genbank 54_36p 1 validated missense c.809 p.L270W 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" - no_errors SCYL2 55681 broad.mit.edu 36 12 99244535 99244535 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 99244535 99244535 G A SNP SCYL2 NM_017988 human genbank 54_36p 1 provisional missense c.1514 p.R505H 1 superfamily_ARM repeat "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_ARM repeat" - no_errors SLC17A8 246213 broad.mit.edu 36 12 99320298 99320298 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 99320298 99320298 G T SNP SLC17A8 NM_139319 human genbank 54_36p 1 validated missense c.813 p.E271D 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors NR1H4 9971 broad.mit.edu 36 12 99428782 99428783 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 99428782 99428783 CC AA DNP NR1H4 NM_005123 human genbank 54_36p 1 provisional missense c.175_176 p.P59K 0.999:0.988 NULL "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors ANO4 121601 broad.mit.edu 36 12 100014529 100014529 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 100014529 100014529 C T SNP ANO4 NM_178826 human genbank 54_36p 1 validated missense c.1718 p.T573I 1 NULL HMMPfam_DUF590 - no_errors UTP20 27340 broad.mit.edu 36 12 100208167 100208167 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 100208167 100208167 A T SNP UTP20 NM_014503 human genbank 54_36p 1 validated missense c.719 p.H240L 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_DRIM" - no_errors UTP20 27340 broad.mit.edu 36 12 100281580 100281580 + Nonsense_Mutation SNP C C G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 100281580 100281580 C G SNP UTP20 NM_014503 human genbank 54_36p 1 validated nonsense c.5886 p.Y1962* 0.97 superfamily_ARM repeat "HMMPfam_DRIM,superfamily_ARM repeat" - no_errors MYBPC1 4604 broad.mit.edu 36 12 100567277 100567277 + Silent SNP T T C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 100567277 100567277 T C SNP MYBPC1 NM_002465 human genbank 54_36p 1 validated silent c.1305 p.A435 0.09 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors MYBPC1 4604 broad.mit.edu 36 12 100598365 100598365 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 100598365 100598365 T G SNP MYBPC1 NM_002465 human genbank 54_36p 1 validated missense c.3360 p.D1120E 0.99 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors MYBPC1 4604 broad.mit.edu 36 12 100598386 100598386 + Silent SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 100598386 100598386 A G SNP MYBPC1 NM_002465 human genbank 54_36p 1 validated silent c.3381 p.K1127 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors DRAM1 55332 broad.mit.edu 36 12 100839133 100839133 + Silent SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 100839133 100839133 C A SNP DRAM NM_018370 human genbank 54_36p 1 reviewed silent c.681 p.T227 0.97 NULL HMMPfam_Frag1 - no_errors NUP37 79023 broad.mit.edu 36 12 101036303 101036303 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 12 101036303 101036303 T C SNP NUP37 NM_024057 human genbank 54_36p -1 provisional missense c.124 p.N42D 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors PAH 5053 broad.mit.edu 36 12 101762268 101762268 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 101762268 101762268 G A SNP PAH NM_000277 human genbank 54_36p -1 reviewed silent c.1041 p.L347 1 "superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H" "superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL" - no_errors PAH 5053 broad.mit.edu 36 12 101770838 101770838 + Nonsense_Mutation SNP G G A rs5030846 Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 101770838 101770838 G A SNP PAH NM_000277 human genbank 54_36p -1 reviewed nonsense c.727 p.R243* 1 "HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase" "HMMPfam_ACT,PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase,superfamily_SSF55021" - no_errors STAB2 55576 broad.mit.edu 36 12 102642987 102642987 + Silent SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 102642987 102642987 C T SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed silent c.4788 p.R1596 0.61 "HMMSmart_EGF,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 broad.mit.edu 36 12 102658568 102658568 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 102658568 102658568 C A SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.5785 p.P1929T 0.74 NULL ############################################################################################################################################################################################################################################################### - no_errors NT5DC3 51559 broad.mit.edu 36 12 102695829 102695829 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 102695829 102695829 G C SNP NT5DC3 NM_001031701 human genbank 54_36p -1 validated missense c.1555 p.R519G 0.97 HMMPfam_5_nucleotid "superfamily_HAD-like,HMMPfam_5_nucleotid" - no_errors NUAK1 9891 broad.mit.edu 36 12 104985605 104985605 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 104985605 104985605 C T SNP NUAK1 NM_014840 human genbank 54_36p -1 validated missense c.1091 p.R364Q 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TCP11L2 255394 broad.mit.edu 36 12 105239423 105239423 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 105239423 105239423 C T SNP TCP11L2 NM_152772 human genbank 54_36p 1 provisional silent c.444 p.G148 1 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors CRY1 1407 broad.mit.edu 36 12 105917967 105917967 + Silent SNP T T C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 105917967 105917967 T C SNP CRY1 NM_004075 human genbank 54_36p -1 validated silent c.708 p.R236 1 "superfamily_Cryptochrome/photolyase FAD-binding domain,HMMPfam_FAD_binding_7" "superfamily_Cryptochrome/photolyase N-terminal domain,HMMPfam_DNA_photolyase,superfamily_Cryptochrome/photolyase FAD-binding domain,HMMPfam_FAD_binding_7" - no_errors CRY1 1407 broad.mit.edu 36 12 105919188 105919188 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 105919188 105919188 T A SNP CRY1 NM_004075 human genbank 54_36p -1 validated missense c.684 p.K228N 1 "HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain" "HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain,HMMPfam_DNA_photolyase,superfamily_Cryptochrome/photolyase N-terminal domain" - no_errors CRY1 1407 broad.mit.edu 36 12 105919271 105919271 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 105919271 105919271 C T SNP CRY1 NM_004075 human genbank 54_36p -1 validated missense c.601 p.D201N 1 "superfamily_Cryptochrome/photolyase FAD-binding domain,superfamily_Cryptochrome/photolyase N-terminal domain" "HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain,HMMPfam_DNA_photolyase,superfamily_Cryptochrome/photolyase N-terminal domain" - no_errors BTBD11 121551 broad.mit.edu 36 12 106536157 106536157 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 106536157 106536157 C T SNP BTBD11 NM_001018072 human genbank 54_36p 1 validated missense c.2324 p.A775V 0.98 NULL "superfamily_Histone-fold,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors WSCD2 9671 broad.mit.edu 36 12 107128162 107128162 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 107128162 107128162 A C SNP WSCD2 NM_014653 human genbank 54_36p 1 validated missense c.632 p.N211T 1 HMMSmart_SM00321 "HMMSmart_SM00321,HMMPfam_WSC,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors WSCD2 9671 broad.mit.edu 36 12 107166130 107166130 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 107166130 107166130 C T SNP WSCD2 NM_014653 human genbank 54_36p 1 validated silent c.1578 p.L526 0.97 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_WSC,HMMSmart_SM00321,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CMKLR1 1240 broad.mit.edu 36 12 107210540 107210540 + Silent SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 107210540 107210540 G C SNP CMKLR1 NM_004072 human genbank 54_36p -1 validated silent c.324 p.A108 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SSH1 54434 broad.mit.edu 36 12 107729204 107729204 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 107729204 107729204 C T SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.431 p.R144Q 0.97 NULL "superfamily_DEK C-terminal domain,HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" - no_errors ACACB 32 broad.mit.edu 36 12 108089161 108089161 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 108089161 108089161 G A SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.766 p.G256R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors FOXN4 121643 broad.mit.edu 36 12 108202014 108202022 + In_Frame_Del DEL GGGTTAGGC - GGGTTAGGC novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 GGGTTAGGC GGGTTAGGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 108202014 108202022 GGGTTAGGC - DEL FOXN4 NM_213596 human genbank 54_36p -1 validated in_frame_del c.859_851 p.GLTP284in_frame_delA 0.997:1.000:1.000:1.000:0.997:1.000:0.998:0.984:0.721 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" "(deletion:cds_exon[108201859,108202118])" no_errors UBE3B 89910 broad.mit.edu 36 12 108446298 108446298 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 108446298 108446298 A T SNP UBE3B NM_130466 human genbank 54_36p 1 reviewed missense c.2497 p.I833F 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors UBE3B 89910 broad.mit.edu 36 12 108452778 108452778 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 108452778 108452778 G T SNP UBE3B NM_130466 human genbank 54_36p 1 reviewed missense c.2854 p.V952F 1 "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain" - no_errors C12orf34 84915 broad.mit.edu 36 12 108690202 108690202 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 108690202 108690202 G A SNP C12orf34 NM_032829 human genbank 54_36p 1 predicted missense c.85 p.E29K 1 NULL NULL - no_errors C12orf34 84915 broad.mit.edu 36 12 108690738 108690738 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 108690738 108690738 C G SNP C12orf34 NM_032829 human genbank 54_36p 1 predicted missense c.621 p.N207K 1 NULL NULL - no_errors C12orf34 84915 broad.mit.edu 36 12 108691299 108691299 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 108691299 108691299 G C SNP C12orf34 NM_032829 human genbank 54_36p 1 predicted missense c.1182 p.K394N 1 NULL NULL - no_errors TRPV4 59341 broad.mit.edu 36 12 108725281 108725281 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 108725281 108725281 T A SNP TRPV4 NM_021625 human genbank 54_36p -1 reviewed missense c.610 p.N204Y 0 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors TCHP 84260 broad.mit.edu 36 12 108836700 108836700 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 108836700 108836700 T C SNP TCHP NM_032300 human genbank 54_36p 1 validated missense c.1205 p.L402P 0.97 NULL NULL - no_errors C12orf76 400073 broad.mit.edu 36 12 108964569 108964569 + Silent SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 108964569 108964569 C T SNP FLJ40142 NM_207435 human genbank 54_36p -1 predicted silent c.378 p.A126 1 NULL NULL - no_errors ATP2A2 488 broad.mit.edu 36 12 109262911 109262911 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 109262911 109262911 C A SNP ATP2A2 NM_170665 human genbank 54_36p 1 reviewed missense c.1826 p.S609Y 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_HAD-like" ############################################################################################################################################################################################################################################################### - no_errors ATP2A2 488 broad.mit.edu 36 12 109267487 109267487 + Silent SNP T T C novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 109267487 109267487 T C SNP ATP2A2 NM_170665 human genbank 54_36p 1 reviewed silent c.2658 p.D886 1 "HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M" ############################################################################################################################################################################################################################################################### - no_errors MYL2 4633 broad.mit.edu 36 12 109837929 109837929 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 109837929 109837929 C A SNP MYL2 NM_000432 human genbank 54_36p -1 reviewed missense c.142 p.D48Y 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors MYL2 4633 broad.mit.edu 36 12 109841372 109841372 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 109841372 109841372 C T SNP MYL2 NM_000432 human genbank 54_36p -1 reviewed silent c.12 p.K4 1 NULL "HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" - no_errors CUX2 23316 broad.mit.edu 36 12 110260538 110260538 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 110260538 110260538 C T SNP CUX2 NM_015267 human genbank 54_36p 1 validated missense c.3262 p.R1088W 1 HMMPfam_CUT "HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors CUX2 23316 broad.mit.edu 36 12 110269817 110269817 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 110269817 110269817 C T SNP CUX2 NM_015267 human genbank 54_36p 1 validated missense c.3766 p.P1256S 0.29 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors CUX2 23316 broad.mit.edu 36 12 110270422 110270422 + Silent SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 110270422 110270422 G C SNP CUX2 NM_015267 human genbank 54_36p 1 validated silent c.4371 p.R1457 1 NULL "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors FAM109A 144717 broad.mit.edu 36 12 110285217 110285218 + Missense_Mutation DNP CC CC AT novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 110285217 110285218 CC AT DNP FAM109A NM_144671 human genbank 54_36p -1 validated missense c.398_397 p.G133M 0.035:0.033 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors ATXN2 6311 broad.mit.edu 36 12 110392426 110392426 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 110392426 110392426 T C SNP ATXN2 NM_002973 human genbank 54_36p -1 reviewed missense c.3185 p.H1062R 1 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LsmAD,HMMPfam_PAM2" - no_errors ACAD10 80724 broad.mit.edu 36 12 110631810 110631810 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 110631810 110631810 T G SNP ACAD10 NM_025247 human genbank 54_36p 1 reviewed missense c.629 p.F210C 1 "HMMPfam_Hydrolase,superfamily_HAD-like" ############################################################################################################################################################################################################################################################### - no_errors ACAD10 80724 broad.mit.edu 36 12 110668393 110668393 + Silent SNP A A G novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 110668393 110668393 A G SNP ACAD10 NM_025247 human genbank 54_36p 1 reviewed silent c.2178 p.K726 0.96 "HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like" ############################################################################################################################################################################################################################################################### - no_errors MAPKAPK5 8550 broad.mit.edu 36 12 110802716 110802716 + Splice_Site SNP T T A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 110802716 110802716 T A SNP MAPKAPK5 NM_139078 human genbank 54_36p 1 reviewed splice_site c.660+2 e8+2 1 - - - no_errors C12orf51 283450 broad.mit.edu 36 12 111090030 111090030 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 111090030 111090030 A C SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated missense c.11017 p.C3673G 1 "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors C12orf51 283450 broad.mit.edu 36 12 111092551 111092551 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 111092551 111092551 C A SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated missense c.10755 p.E3585D 0.99 NULL "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain" - no_errors C12orf51 283450 broad.mit.edu 36 12 111152049 111152049 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 111152049 111152049 T C SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated missense c.5089 p.M1697V 1 NULL "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain" - no_errors C12orf51 283450 broad.mit.edu 36 12 111228320 111228320 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 111228320 111228320 C T SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated nonsense c.84 p.W28* 1 NULL "HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain" - no_errors RPH3A 22895 broad.mit.edu 36 12 111770015 111770015 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 111770015 111770015 A T SNP RPH3A NM_014954 human genbank 54_36p 1 validated missense c.203 p.E68V 1 "HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF" "HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors RPH3A 22895 broad.mit.edu 36 12 111787659 111787659 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 111787659 111787659 C T SNP RPH3A NM_014954 human genbank 54_36p 1 validated silent c.276 p.N92 1 "HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF" "HMMPfam_C2,HMMSmart_C2,HMMPfam_RPH3A_effector,superfamily_C2_CaLB,superfamily_FYVE_PHD_ZnF" - no_errors OAS2 4939 broad.mit.edu 36 12 111927340 111927340 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 111927340 111927340 C A SNP OAS2 NM_016817 human genbank 54_36p 1 reviewed missense c.1398 p.S466R 0.24 "superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2" "superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMPfam_NTP_transf_2" - no_errors IQCD 115811 broad.mit.edu 36 12 112129788 112129788 + Silent SNP C C T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 112129788 112129788 C T SNP IQCD NM_138451 human genbank 54_36p -1 provisional silent c.567 p.E189 0 NULL "HMMSmart_IQ,HMMPfam_IQ" - no_errors IQCD 115811 broad.mit.edu 36 12 112129957 112129957 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 112129957 112129957 G C SNP IQCD NM_138451 human genbank 54_36p -1 provisional missense c.398 p.S133C 0 NULL "HMMPfam_IQ,HMMSmart_IQ" - no_errors TPCN1 53373 broad.mit.edu 36 12 112191059 112191059 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 112191059 112191059 C T SNP TPCN1 NM_017901 human genbank 54_36p 1 validated missense c.658 p.R220C 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_LECTIN_LEGUME_BETA" - no_errors TPCN1 53373 broad.mit.edu 36 12 112213821 112213821 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 112213821 112213821 C T SNP TPCN1 NM_017901 human genbank 54_36p 1 validated missense c.1984 p.H662Y 0.99 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,PatternScan_LECTIN_LEGUME_BETA,superfamily_Voltage-gated potassium channels" - no_errors RBM19 9904 broad.mit.edu 36 12 112859282 112859282 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 112859282 112859282 C T SNP RBM19 NM_016196 human genbank 54_36p -1 provisional missense c.1981 p.V661I 0.99 superfamily_RNA-binding domain RBD "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,HMMSmart_SM00361" - no_errors TBX5 6910 broad.mit.edu 36 12 113277927 113277927 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 113277927 113277927 C T SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed silent c.1350 p.L450 0.65 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBX5 6910 broad.mit.edu 36 12 113278154 113278154 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 113278154 113278154 G A SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.1123 p.R375W 1 NULL "HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors TBX5 6910 broad.mit.edu 36 12 113278161 113278161 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 12 113278161 113278161 C T SNP TBX5 ENST00000392559 human ensembl 54_36p -1 known missense c.962 p.R321Q 0.79 NULL "HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors TBX3 6926 broad.mit.edu 36 12 113598654 113598654 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 113598654 113598654 G C SNP TBX3 NM_016569 human genbank 54_36p -1 reviewed missense c.946 p.Q316E 1 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBX3 6926 broad.mit.edu 36 12 113605310 113605310 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 113605310 113605310 C A SNP TBX3 NM_016569 human genbank 54_36p -1 reviewed missense c.79 p.D27Y 1 NULL "HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,PatternScan_TBOX_2,PatternScan_TBOX_1" - no_errors MED13L 23389 broad.mit.edu 36 12 114905449 114905449 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 114905449 114905449 G A SNP MED13L NM_015335 human genbank 54_36p -1 validated missense c.4811 p.S1604F 1 HMMPfam_TRAP_240kDa HMMPfam_TRAP_240kDa - no_errors C12orf49 79794 broad.mit.edu 36 12 115642535 115642535 + Silent SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 115642535 115642535 G A SNP C12orf49 NM_024738 human genbank 54_36p -1 predicted silent c.369 p.G123 1 HMMPfam_DUF2054 HMMPfam_DUF2054 - no_errors RNFT2 84900 broad.mit.edu 36 12 115756109 115756109 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 115756109 115756109 G C SNP RNFT2 NM_001109903 human genbank 54_36p 1 validated missense c.1012 p.V338L 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors FBXW8 26259 broad.mit.edu 36 12 115946377 115946377 + Silent SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 115946377 115946377 G T SNP FBXW8 NM_153348 human genbank 54_36p 1 reviewed silent c.1410 p.S470 0.97 "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors NOS1 4842 broad.mit.edu 36 12 116149679 116149679 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 116149679 116149679 G T SNP NOS1 NM_000620 human genbank 54_36p -1 validated missense c.3556 p.P1186T 1 "superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1" ############################################################################################################################################################################################################################################################### - no_errors WSB2 55884 broad.mit.edu 36 12 116956429 116956429 + Silent SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 116956429 116956429 T C SNP WSB2 NM_018639 human genbank 54_36p -1 reviewed silent c.1170 p.P390 1 "HMMSmart_SOCS,HMMPfam_SOCS_box" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SOCS,HMMPfam_SOCS_box" - no_errors PEBP1 5037 broad.mit.edu 36 12 117060263 117060263 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 117060263 117060263 C G SNP PEBP1 NM_002567 human genbank 54_36p 1 validated missense c.172 p.L58V 0.99 "superfamily_PEBP-like,HMMPfam_PBP" "superfamily_PEBP-like,HMMPfam_PBP,PatternScan_PBP" - no_errors TAOK3 51347 broad.mit.edu 36 12 117121365 117121365 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 117121365 117121365 G T SNP TAOK3 NM_016281 human genbank 54_36p -1 validated missense c.1068 p.S356R 1 superfamily_Kinase_like "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SRRM4 84530 broad.mit.edu 36 12 118052871 118052871 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 118052871 118052871 G A SNP KIAA1853 NM_194286 human genbank 54_36p 1 validated missense c.620 p.R207H 0.85 NULL NULL - no_errors CIT 11113 broad.mit.edu 36 12 118619884 118619884 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 118619884 118619884 C T SNP CIT NM_007174 human genbank 54_36p -1 validated missense c.5719 p.G1907S 0.71 NULL ############################################################################################################################################################################################################################################################### - no_errors CIT 11113 broad.mit.edu 36 12 118619990 118619990 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 12 118619990 118619990 C T SNP CIT NM_007174 human genbank 54_36p -1 validated silent c.5613 p.P1871 0.98 "HMMPfam_CNH,HMMSmart_SM00036" ############################################################################################################################################################################################################################################################### - no_errors CIT 11113 broad.mit.edu 36 12 118635783 118635783 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 118635783 118635783 C T SNP CIT NM_007174 human genbank 54_36p -1 validated missense c.4234 p.G1412S 1 "HMMPfam_C1_1,superfamily_Cysteine-rich domain" ############################################################################################################################################################################################################################################################### - no_errors GCN1L1 10985 broad.mit.edu 36 12 119070500 119070500 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 119070500 119070500 C A SNP GCN1L1 NM_006836 human genbank 54_36p -1 validated missense c.4580 p.C1527F 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors GCN1L1 10985 broad.mit.edu 36 12 119085085 119085085 + Silent SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 119085085 119085085 C T SNP GCN1L1 NM_006836 human genbank 54_36p -1 validated silent c.2112 p.R704 1 superfamily_ARM repeat "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors RPLP0 6175 broad.mit.edu 36 12 119119580 119119580 + Silent SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 119119580 119119580 A G SNP RPLP0 NM_001002 human genbank 54_36p -1 reviewed silent c.720 p.S240 0.99 HMMPfam_Ribosomal_60s "HMMPfam_Ribosomal_L10,HMMPfam_Ribosomal_60s" - no_errors PXN 5829 broad.mit.edu 36 12 119134669 119134669 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 12 119134669 119134669 G T SNP PXN NM_002859 human genbank 54_36p -1 validated missense c.1505 p.S502Y 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "HMMPfam_Paxillin,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors PXN 5829 broad.mit.edu 36 12 119137799 119137799 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 119137799 119137799 C T SNP PXN ENST00000228307 human ensembl 54_36p -1 known missense c.880 p.G294S 0.15 NULL "HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_Paxillin,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors PXN 5829 broad.mit.edu 36 12 119143917 119143917 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 119143917 119143917 C G SNP PXN NM_002859 human genbank 54_36p -1 validated missense c.723 p.E241D 1 HMMPfam_Paxillin "HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_Paxillin,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors COQ5 84274 broad.mit.edu 36 12 119426212 119426212 + Nonsense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 119426212 119426212 C A SNP COQ5 NM_032314 human genbank 54_36p -1 validated nonsense c.826 p.G276* 1 "HMMPfam_Ubie_methyltran,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_Ubie_methyltran,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_UBIE_1,PatternScan_UBIE_2" - no_errors POP5 51367 broad.mit.edu 36 12 119503411 119503411 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 119503411 119503411 G A SNP POP5 NM_015918 human genbank 54_36p -1 validated missense c.53 p.P18L 1 HMMPfam_RNase_P_Rpp14 HMMPfam_RNase_P_Rpp14 - no_errors SPPL3 121665 broad.mit.edu 36 12 119688520 119688520 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 119688520 119688520 C T SNP SPPL3 NM_139015 human genbank 54_36p -1 validated missense c.1012 p.A338T 1 "HMMPfam_Peptidase_A22B,HMMSmart_SM00730" "HMMPfam_Peptidase_A22B,HMMSmart_SM00730" - no_errors WDR66 144406 broad.mit.edu 36 12 120854166 120854166 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 120854166 120854166 C A SNP WDR66 NM_144668 human genbank 54_36p 1 validated nonsense c.879 p.Y293* 0.86 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,superfamily_EF-hand" - no_errors WDR66 144406 broad.mit.edu 36 12 120873797 120873797 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 120873797 120873797 G C SNP WDR66 NM_144668 human genbank 54_36p 1 validated missense c.1298 p.S433T 0.99 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,superfamily_EF-hand" - no_errors MLXIP 22877 broad.mit.edu 36 12 121178416 121178416 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 121178416 121178416 T C SNP MLXIP ENST00000319080 human ensembl 54_36p 1 known missense c.553 p.F185L 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors B3GNT4 79369 broad.mit.edu 36 12 121257149 121257149 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121257149 121257149 G A SNP B3GNT4 NM_030765 human genbank 54_36p 1 reviewed missense c.398 p.R133Q 0.89 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors B3GNT4 79369 broad.mit.edu 36 12 121257289 121257289 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 121257289 121257289 G A SNP B3GNT4 NM_030765 human genbank 54_36p 1 reviewed missense c.538 p.D180N 1 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors DIABLO 56616 broad.mit.edu 36 12 121259056 121259056 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom;ManualReview;Sequenom Illumina GAIIx 12 121259056 121259056 G T SNP DIABLO NM_019887 human genbank 54_36p -1 reviewed missense c.545 p.T182N 0.02 "HMMPfam_Smac_DIABLO,superfamily_Smac/diablo" "HMMPfam_Smac_DIABLO,superfamily_Smac/diablo" - no_errors CLIP1 6249 broad.mit.edu 36 12 121404952 121404952 + Splice_Site SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121404952 121404952 C T SNP CLIP1 NM_002956 human genbank 54_36p -1 validated splice_site c.1307+1 e6+1 1 - - - no_errors RSRC2 65117 broad.mit.edu 36 12 121572739 121572739 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121572739 121572739 T A SNP RSRC2 NM_023012 human genbank 54_36p -1 validated nonsense c.67 p.K23* 1 NULL NULL - no_errors KNTC1 9735 broad.mit.edu 36 12 121607955 121607955 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121607955 121607955 G C SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed missense c.1344 p.Q448H 0.18 NULL "PatternScan_BZIP_BASIC,HMMPfam_Rod_C" - no_errors KNTC1 9735 broad.mit.edu 36 12 121623710 121623710 + Silent SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121623710 121623710 C A SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed silent c.2208 p.I736 0.09 NULL "PatternScan_BZIP_BASIC,HMMPfam_Rod_C" - no_errors KNTC1 9735 broad.mit.edu 36 12 121653718 121653718 + Silent SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121653718 121653718 C T SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed silent c.5076 p.I1692 0.99 HMMPfam_Rod_C "PatternScan_BZIP_BASIC,HMMPfam_Rod_C" - no_errors KNTC1 9735 broad.mit.edu 36 12 121655545 121655548 + Frame_Shift_Del DEL ATCA - ATCA novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 ATCA ATCA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 121655545 121655548 ATCA - DEL KNTC1 NM_014708 human genbank 54_36p 1 reviewed frame_shift_del c.5344_5347 p.N1783fs 0.921:0.910:0.010:0.009 HMMPfam_Rod_C "HMMPfam_Rod_C,PatternScan_BZIP_BASIC" "(deletion:cds_exon[121655377,121655587])" no_errors GPR109A 338442 broad.mit.edu 36 12 121753766 121753766 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121753766 121753766 C T SNP NIACR1 NM_177551 human genbank 54_36p -1 validated silent c.18 p.L6 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR109B 8843 broad.mit.edu 36 12 121766190 121766190 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121766190 121766190 C T SNP NIACR2 NM_006018 human genbank 54_36p -1 validated missense c.1048 p.G350S 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR109B 8843 broad.mit.edu 36 12 121767220 121767220 + Silent SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121767220 121767220 C T SNP NIACR2 NM_006018 human genbank 54_36p -1 validated silent c.18 p.L6 0 superfamily_Family A G protein-coupled receptor-like "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors CCDC62 84660 broad.mit.edu 36 12 121842531 121842531 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 121842531 121842531 G A SNP CCDC62 NM_201435 human genbank 54_36p 1 validated missense c.682 p.E228K 1 NULL NULL - no_errors ABCB9 23457 broad.mit.edu 36 12 121980614 121980614 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 121980614 121980614 G A SNP ABCB9 NM_019625 human genbank 54_36p -1 reviewed missense c.2098 p.R700W 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors PITPNM2 57605 broad.mit.edu 36 12 122063189 122063189 + Silent SNP G G C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 122063189 122063189 G C SNP PITPNM2 NM_020845 human genbank 54_36p -1 validated silent c.339 p.T113 1 "HMMPfam_IP_trans,superfamily_Bet v1-like" "HMMPfam_IP_trans,superfamily_Bet v1-like,HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors SBNO1 55206 broad.mit.edu 36 12 122355111 122355112 + Missense_Mutation DNP AA AA TT novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 AA AA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 122355111 122355112 AA TT DNP SBNO1 NM_018183 human genbank 54_36p -1 provisional missense c.3736_3735 p.Y1246N 0.998:0.991 NULL NULL - no_errors SBNO1 55206 broad.mit.edu 36 12 122361599 122361599 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 12 122361599 122361599 A G SNP SBNO1 NM_018183 human genbank 54_36p -1 provisional missense c.3248 p.L1083P 1 NULL NULL - no_errors TCTN2 79867 broad.mit.edu 36 12 122745445 122745445 + Silent SNP T T A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 122745445 122745445 T A SNP TCTN2 NM_024809 human genbank 54_36p 1 validated silent c.1203 p.I401 0 HMMPfam_DUF1619 HMMPfam_DUF1619 - no_errors ATP6V0A2 23545 broad.mit.edu 36 12 122786043 122786043 + Silent SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 122786043 122786043 C T SNP ATP6V0A2 NM_012463 human genbank 54_36p 1 validated silent c.744 p.H248 0.97 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors ATP6V0A2 23545 broad.mit.edu 36 12 122799083 122799083 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 122799083 122799083 G A SNP ATP6V0A2 NM_012463 human genbank 54_36p 1 validated missense c.1733 p.R578K 1 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors DNAH10 196385 broad.mit.edu 36 12 122849786 122849786 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 122849786 122849786 A G SNP DNAH10 NM_207437 human genbank 54_36p 1 validated missense c.1304 p.E435G 1 HMMPfam_DHC_N1 HMMPfam_DHC_N1 - no_errors DNAH10 196385 broad.mit.edu 36 12 122898462 122898462 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 122898462 122898462 C T SNP DNAH10 ENST00000409039 human ensembl 54_36p 1 known missense c.5462 p.A1821V 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH10 196385 broad.mit.edu 36 12 122918013 122918013 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 122918013 122918013 A G SNP DNAH10 ENST00000409039 human ensembl 54_36p 1 known missense c.6860 p.Y2287C 0.45 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH10 196385 broad.mit.edu 36 12 122961116 122961116 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 122961116 122961116 G A SNP DNAH10 ENST00000409039 human ensembl 54_36p 1 known missense c.9724 p.E3242K 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors UBC 7316 broad.mit.edu 36 12 123963649 123963649 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 123963649 123963649 G C SNP UBC NM_021009 human genbank 54_36p -1 validated missense c.622 p.L208V 1 "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin" "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" - no_errors UBC 7316 broad.mit.edu 36 12 123963914 123963939 + Frame_Shift_Del DEL CAACCTCTGCTGGTCAGGAGGAATGC - CAACCTCTGCTGGTCAGGAGGAATGC novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W CAACCTCTGCTGGTCAGGAGGAATGC CAACCTCTGCTGGTCAGGAGGAATGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 123963914 123963939 CAACCTCTGCTGGTCAGGAGGAATGC - DEL UBC NM_021009 human genbank 54_36p -1 validated frame_shift_del c.357_332 p.G111fs 1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.975:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" "(deletion:cds_exon[123962213,123964270])" no_errors DHX37 57647 broad.mit.edu 36 12 124017294 124017294 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 124017294 124017294 C T SNP DHX37 NM_032656 human genbank 54_36p -1 reviewed missense c.1588 p.E530K 0 superfamily_SSF52540 "PatternScan_DEAH_ATP_HELICASE,HMMSmart_DEXDc,superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors AACS 65985 broad.mit.edu 36 12 124184519 124184519 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 124184519 124184519 G T SNP AACS NM_023928 human genbank 54_36p 1 validated missense c.1567 p.D523Y 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors TMEM132B 114795 broad.mit.edu 36 12 124570120 124570120 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 124570120 124570120 C T SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional missense c.1274 p.A425V 0.99 NULL NULL - no_errors TMEM132B 114795 broad.mit.edu 36 12 124701239 124701239 + Silent SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 124701239 124701239 C T SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional silent c.1686 p.S562 1 NULL NULL - no_errors TMEM132B 114795 broad.mit.edu 36 12 124704761 124704761 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 124704761 124704761 G C SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional missense c.2789 p.R930T 1 NULL NULL - no_errors TMEM132D 121256 broad.mit.edu 36 12 128125002 128125002 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 128125002 128125002 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated nonsense c.2671 p.Q891* 1 NULL NULL - no_errors TMEM132D 121256 broad.mit.edu 36 12 128129077 128129077 + Silent SNP G G T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 128129077 128129077 G T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.2070 p.I690 1 NULL NULL - no_errors TMEM132D 121256 broad.mit.edu 36 12 128132269 128132269 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 128132269 128132269 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.1911 p.M637I 1 NULL NULL - no_errors TMEM132D 121256 broad.mit.edu 36 12 128751112 128751112 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 128751112 128751112 T G SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.164 p.N55T 0.6 NULL NULL - no_errors PIWIL1 9271 broad.mit.edu 36 12 129397538 129397538 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 129397538 129397538 T A SNP PIWIL1 NM_004764 human genbank 54_36p 1 reviewed missense c.631 p.F211I 1 superfamily_PAZ domain "superfamily_PAZ domain,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi" - no_errors PIWIL1 9271 broad.mit.edu 36 12 129413273 129413273 + Silent SNP A A C novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 129413273 129413273 A C SNP PIWIL1 NM_004764 human genbank 54_36p 1 reviewed silent c.1980 p.S660 0.69 "HMMPfam_Piwi,superfamily_Ribonuclease H-like" "HMMPfam_PAZ,HMMPfam_Piwi,superfamily_Ribonuclease H-like,superfamily_PAZ domain" - no_errors RIMBP2 23504 broad.mit.edu 36 12 129463099 129463127 + Splice_Site DEL ATAGGGGTTTGCGCTTACCTATTTTCTCC - ATAGGGGTTTGCGCTTACCTATTTTCTCC novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 ATAGGGGTTTGCGCTTACCTATTTTCTCC ATAGGGGTTTGCGCTTACCTATTTTCTCC - - ATAGGGGTTTGCGCTTACCTATTTTCTCC ATAGGGGTTTGCGCTTACCTATTTTCTCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 12 129463099 129463127 ATAGGGGTTTGCGCTTACCTATTTTCTCC - DEL RIMBP2 NM_015347 human genbank 54_36p -1 validated splice_site_del c.2821+12_2821+1 e14-1 0.003:0.012:0.042:0.041:0.011:0.007:0.001:0.000:0.000:0.000:0.000:0.000:0.011:0.980:0.986:0.988:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - "(deletion:intron[129458328,129463116], cds_exon[129463117,129463285])" no_errors RIMBP2 23504 broad.mit.edu 36 12 129492506 129492506 + Silent SNP G G T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 129492506 129492506 G T SNP RIMBP2 NM_015347 human genbank 54_36p -1 validated silent c.1293 p.I431 0.99 "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" - no_errors GPR133 283383 broad.mit.edu 36 12 130032443 130032443 + Silent SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 130032443 130032443 G A SNP GPR133 NM_198827 human genbank 54_36p 1 validated silent c.372 p.A124 0.07 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors PUS1 80324 broad.mit.edu 36 12 130980501 130980501 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 130980501 130980501 C T SNP PUS1 NM_025215 human genbank 54_36p 1 validated silent c.171 p.R57 0.03 NULL "superfamily_Pseudouridine synthase,HMMPfam_PseudoU_synth_1" - no_errors EP400 57634 broad.mit.edu 36 12 131063515 131063515 + Silent SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 131063515 131063515 C T SNP EP400 NM_015409 human genbank 54_36p 1 validated silent c.3447 p.A1149 0.01 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N" "HMMPfam_HSA,HMMSmart_HSA,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,superfamily_Homeodomain_like" - no_errors EP400 57634 broad.mit.edu 36 12 131082509 131082509 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 131082509 131082509 A C SNP EP400 NM_015409 human genbank 54_36p 1 validated missense c.5810 p.H1937P 1 "HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540" "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HSA,superfamily_Homeodomain_like,HMMSmart_HSA,HMMSmart_DEXDc,superfamily_SSF52540" - no_errors DDX51 317781 broad.mit.edu 36 12 131193236 131193236 + Silent SNP G G T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 131193236 131193236 G T SNP DDX51 NM_175066 human genbank 54_36p -1 validated silent c.660 p.S220 0.67 "superfamily_SSF52540,HMMSmart_DEXDc" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors P2RX2 22953 broad.mit.edu 36 12 131708475 131708475 + Silent SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 131708475 131708475 C A SNP P2RX2 NM_170683 human genbank 54_36p 1 reviewed silent c.1338 p.G446 0 NULL "HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR" - no_errors POLE 5426 broad.mit.edu 36 12 131730604 131730604 + Silent SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 131730604 131730604 G A SNP POLE NM_006231 human genbank 54_36p -1 validated silent c.4182 p.V1394 1 NULL "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,HMMPfam_DNA_pol_B,superfamily_SSF56672,HMMPfam_DUF1744" - no_errors ANKLE2 23141 broad.mit.edu 36 12 131814717 131814717 + Silent SNP C C A novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 131814717 131814717 C A SNP ANKLE2 NM_015114 human genbank 54_36p -1 validated silent c.2589 p.L863 1 NULL "HMMPfam_LEM,superfamily_LEM domain,superfamily_Ankyrin repeat" - no_errors GOLGA3 2802 broad.mit.edu 36 12 131875697 131875697 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 131875697 131875697 T C SNP GOLGA3 NM_005895 human genbank 54_36p -1 reviewed missense c.2800 p.T934A 0.79 superfamily_Prefoldin "superfamily_Spectrin repeat,superfamily_Prefoldin" - no_errors GOLGA3 2802 broad.mit.edu 36 12 131894955 131894955 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 131894955 131894955 T G SNP GOLGA3 NM_005895 human genbank 54_36p -1 reviewed missense c.773 p.N258T 0 NULL "superfamily_Prefoldin,superfamily_Spectrin repeat" - no_errors ZNF605 100289635 broad.mit.edu 36 12 132013728 132013728 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 132013728 132013728 T C SNP ZNF605 NM_183238 human genbank 54_36p -1 provisional missense c.230 p.K77R 0.17 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors ZNF605 100289635 broad.mit.edu 36 12 132019805 132019805 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 132019805 132019805 C G SNP ZNF605 NM_183238 human genbank 54_36p -1 provisional missense c.25 p.E9Q 1 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF140 7699 broad.mit.edu 36 12 132169760 132169760 + Splice_Site SNP A A C novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 132169760 132169760 A C SNP ZNF140 NM_003440 human genbank 54_36p 1 validated splice_site c.10-2 e2-2 0.99 - - - no_errors ZNF268 10795 broad.mit.edu 36 12 132274621 132274621 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 132274621 132274621 C G SNP ZNF268 NM_003415 human genbank 54_36p 1 provisional missense c.124 p.L42V 0.01 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_stop_codon:bad_bp_length_for_coding_region TUBA3C 7278 broad.mit.edu 36 13 18646092 18646092 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 18646092 18646092 G C SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.1264 p.R422G 1 superfamily_Tubulin C-terminal domain-like "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBA3C 7278 broad.mit.edu 36 13 18649364 18649364 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 18649364 18649364 C T SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed silent c.759 p.T253 0.96 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TPTE2 93492 broad.mit.edu 36 13 18939412 18939412 + Silent SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 18939412 18939412 A G SNP TPTE2 NM_199254 human genbank 54_36p -1 validated silent c.465 p.D155 0.97 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2" - no_errors XPO4 64328 broad.mit.edu 36 13 20294414 20294414 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 20294414 20294414 G C SNP XPO4 NM_022459 human genbank 54_36p -1 validated missense c.855 p.I285M 1 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors LATS2 26524 broad.mit.edu 36 13 20447312 20447312 + Silent SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 13 20447312 20447312 G T SNP LATS2 NM_014572 human genbank 54_36p -1 reviewed silent c.2964 p.P988 1 "superfamily_Kinase_like,HMMSmart_S_TK_X" "HMMPfam_UBA,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors SKA3 221150 broad.mit.edu 36 13 20648551 20648551 + Silent SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 20648551 20648551 C T SNP C13orf3 NM_145061 human genbank 54_36p -1 validated silent c.66 p.T22 1 NULL NULL - no_errors SACS 26278 broad.mit.edu 36 13 22809439 22809439 + Silent SNP G G A novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;ManualReview;Capture Illumina GAIIx 13 22809439 22809439 G A SNP SACS NM_014363 human genbank 54_36p -1 validated silent c.6135 p.I2045 1 NULL "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,superfamily_Chaperone J-domain,HMMPfam_HEPN,superfamily_Nucleotidyltransferase substrate binding subunit/domain,HMMSmart_SM00748" - no_errors SACS 26278 broad.mit.edu 36 13 22810946 22810946 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 22810946 22810946 A T SNP SACS NM_014363 human genbank 54_36p -1 validated missense c.4628 p.V1543E 1 NULL "superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain" - no_errors SACS 26278 broad.mit.edu 36 13 22812961 22812961 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 13 22812961 22812961 C G SNP SACS NM_014363 human genbank 54_36p -1 validated missense c.2613 p.E871D 1 NULL "superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain" - no_errors PARP4 143 broad.mit.edu 36 13 23919310 23919310 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 23919310 23919310 C T SNP PARP4 NM_006437 human genbank 54_36p -1 reviewed missense c.3129 p.M1043I 0.01 "superfamily_SSF53300,HMMPfam_VWA" "HMMPfam_BRCT,superfamily_BRCT,HMMSmart_BRCT,superfamily_PARP_reg,HMMPfam_PARP,superfamily_SSF56399,HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" - no_errors PARP4 143 broad.mit.edu 36 13 23958373 23958373 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 23958373 23958373 T C SNP PARP4 NM_006437 human genbank 54_36p -1 reviewed missense c.1285 p.K429E 0 "HMMPfam_PARP,superfamily_SSF56399" "HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMPfam_VWA,HMMSmart_VWA,superfamily_PARP_reg,HMMSmart_VIT,HMMPfam_PARP,HMMPfam_VIT,superfamily_SSF53300,superfamily_SSF56399" - no_errors ATP12A 479 broad.mit.edu 36 13 24162510 24162510 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 24162510 24162510 C A SNP ATP12A NM_001676 human genbank 54_36p 1 reviewed missense c.581 p.T194N 0 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A" ############################################################################################################################################################################################################################################################### - no_errors ATP12A 479 broad.mit.edu 36 13 24172938 24172938 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 24172938 24172938 G T SNP ATP12A NM_001676 human genbank 54_36p 1 reviewed missense c.1759 p.D587Y 1 "HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M" ############################################################################################################################################################################################################################################################### - no_errors RNF17 56163 broad.mit.edu 36 13 24272504 24272504 + Silent SNP A A T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 24272504 24272504 A T SNP RNF17 NM_031277 human genbank 54_36p 1 reviewed silent c.1590 p.G530 0.99 NULL "superfamily_RING/U-box,PatternScan_ZF_RING_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,superfamily_Staphylococcal nuclease" - no_errors CENPJ 55835 broad.mit.edu 36 13 24378452 24378452 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 24378452 24378452 A G SNP CENPJ NM_018451 human genbank 54_36p -1 reviewed missense c.1724 p.L575S 1 NULL HMMPfam_Tcp10_C - no_errors CENPJ 55835 broad.mit.edu 36 13 24378632 24378632 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 24378632 24378632 G T SNP CENPJ NM_018451 human genbank 54_36p -1 reviewed missense c.1544 p.T515K 0 NULL HMMPfam_Tcp10_C - no_errors CENPJ 55835 broad.mit.edu 36 13 24384797 24384797 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 24384797 24384797 T A SNP CENPJ NM_018451 human genbank 54_36p -1 reviewed missense c.367 p.N123Y 0.15 NULL HMMPfam_Tcp10_C - no_errors CENPJ 55835 broad.mit.edu 36 13 24385017 24385017 + Silent SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 24385017 24385017 G A SNP CENPJ NM_018451 human genbank 54_36p -1 reviewed silent c.147 p.D49 0 NULL HMMPfam_Tcp10_C - no_errors PABPC3 5042 broad.mit.edu 36 13 24568542 24568542 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 24568542 24568542 T G SNP PABPC3 NM_030979 human genbank 54_36p 1 validated missense c.206 p.L69R 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361,superfamily_PABC (PABP) domain,HMMPfam_PABP,HMMSmart_SM00517" - no_errors PABPC3 5042 broad.mit.edu 36 13 24569197 24569197 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 24569197 24569197 G C SNP PABPC3 NM_030979 human genbank 54_36p 1 validated missense c.861 p.R287S 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_PABP,HMMSmart_SM00517,superfamily_PABC (PABP) domain,HMMSmart_SM00361,superfamily_RNA-binding domain RBD" - no_errors FAM123A 219287 broad.mit.edu 36 13 24641819 24641819 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 24641819 24641819 G A SNP FAM123A NM_152704 human genbank 54_36p -1 validated missense c.1939 p.R647C 1 NULL HMMPfam_WTX - no_errors FAM123A 219287 broad.mit.edu 36 13 24642713 24642713 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 24642713 24642713 C A SNP FAM123A NM_152704 human genbank 54_36p -1 validated missense c.1045 p.A349S 0.91 HMMPfam_WTX HMMPfam_WTX - no_errors FAM123A 219287 broad.mit.edu 36 13 24643687 24643687 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 24643687 24643687 C A SNP FAM123A NM_152704 human genbank 54_36p -1 validated missense c.71 p.G24V 1 NULL HMMPfam_WTX - no_errors ATP8A2 51761 broad.mit.edu 36 13 25042928 25042928 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 25042928 25042928 G T SNP ATP8A2 NM_016529 human genbank 54_36p 1 validated missense c.1497 p.E499D 1 "superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N" "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP8A2 51761 broad.mit.edu 36 13 25484707 25484707 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 25484707 25484707 G A SNP ATP8A2 NM_016529 human genbank 54_36p 1 validated missense c.3416 p.R1139Q 1 NULL "HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors SHISA2 387914 broad.mit.edu 36 13 25518663 25518663 + Silent SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 25518663 25518663 C T SNP SHISA2 NM_001007538 human genbank 54_36p -1 provisional silent c.876 p.A292 0.44 NULL NULL - no_errors RNF6 6049 broad.mit.edu 36 13 25687649 25687649 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 25687649 25687649 T C SNP RNF6 NM_005977 human genbank 54_36p -1 reviewed missense c.370 p.T124A 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors CDK8 1024 broad.mit.edu 36 13 25854987 25854987 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 13 25854987 25854987 G C SNP CDK8 NM_001260 human genbank 54_36p 1 reviewed missense c.493 p.E165Q 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GPR12 2835 broad.mit.edu 36 13 26231719 26231719 + Silent SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 13 26231719 26231719 T C SNP GPR12 NM_005288 human genbank 54_36p -1 validated silent c.246 p.L82 0.94 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MTIF3 219402 broad.mit.edu 36 13 26909388 26909388 + Silent SNP C C A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 26909388 26909388 C A SNP MTIF3 NM_152912 human genbank 54_36p -1 provisional silent c.483 p.L161 0.03 superfamily_Translation initiation factor IF3 C-terminal domain "HMMPfam_IF3_N,superfamily_Translation initiation factor IF3 N-terminal domain,superfamily_Translation initiation factor IF3 C-terminal domain" - no_errors FLT3 2322 broad.mit.edu 36 13 27507758 27507758 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 27507758 27507758 C G SNP FLT3 NM_004119 human genbank 54_36p -1 reviewed missense c.1471 p.V491L 0.03 NULL "superfamily_SSF48726,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors MTUS2 23281 broad.mit.edu 36 13 28497077 28497077 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 28497077 28497077 T C SNP KIAA0774 NM_001033602 human genbank 54_36p 1 validated missense c.272 p.L91P 0.38 NULL NULL - no_errors MTUS2 23281 broad.mit.edu 36 13 28497284 28497284 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 28497284 28497284 G T SNP KIAA0774 NM_001033602 human genbank 54_36p 1 validated missense c.479 p.R160M 0.25 NULL NULL - no_errors MTUS2 23281 broad.mit.edu 36 13 28831456 28831456 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 28831456 28831456 C A SNP KIAA0774 NM_001033602 human genbank 54_36p 1 validated missense c.2993 p.P998Q 0.81 NULL NULL - no_errors HMGB1 3146 broad.mit.edu 36 13 29935343 29935343 + Splice_Site SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 29935343 29935343 C T SNP HMGB1 NM_002128 human genbank 54_36p -1 validated splice_site c.296+1 e2+1 1 - - - no_errors C13orf26 122046 broad.mit.edu 36 13 30438436 30438436 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 30438436 30438436 C T SNP C13orf26 NM_152325 human genbank 54_36p 1 predicted nonsense c.547 p.R183* 0.96 NULL NULL - no_errors HSPH1 10808 broad.mit.edu 36 13 30624998 30624998 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 30624998 30624998 T A SNP HSPH1 NM_006644 human genbank 54_36p -1 validated missense c.520 p.M174L 1 "superfamily_Actin-like ATPase domain,HMMPfam_HSP70" "superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain" - no_errors FRY 10129 broad.mit.edu 36 13 31550987 31550987 + Silent SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 13 31550987 31550987 C T SNP FRY NM_023037 human genbank 54_36p 1 validated silent c.87 p.N29 1 NULL PatternScan_GHMP_KINASES_ATP - no_errors FRY 10129 broad.mit.edu 36 13 31709670 31709670 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 31709670 31709670 G T SNP FRY NM_023037 human genbank 54_36p 1 validated missense c.5965 p.G1989C 1 NULL PatternScan_GHMP_KINASES_ATP - no_errors FRY 10129 broad.mit.edu 36 13 31733801 31733801 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 31733801 31733801 G T SNP FRY NM_023037 human genbank 54_36p 1 validated missense c.7465 p.D2489Y 1 NULL PatternScan_GHMP_KINASES_ATP - no_errors BRCA2 675 broad.mit.edu 36 13 31808625 31808625 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 31808625 31808625 C A SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed nonsense c.2133 p.C711* 0 NULL "HMMPfam_BRCA2,superfamily_BRCA2_helical,HMMPfam_BRCA-2_helical,superfamily_Nucleic_acid_OB,HMMPfam_BRCA-2_OB1,HMMPfam_Tower,superfamily_SSF81878,HMMPfam_BRCA-2_OB3" - no_errors BRCA2 675 broad.mit.edu 36 13 31810553 31810553 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 31810553 31810553 C T SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed missense c.4061 p.T1354M 0.06 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" - no_errors BRCA2 675 broad.mit.edu 36 13 31812137 31812137 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 31812137 31812137 C A SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed nonsense c.5645 p.S1882* 0.01 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" - no_errors N4BP2L1 90634 broad.mit.edu 36 13 31876397 31876397 + Silent SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 31876397 31876397 G A SNP N4BP2L1 NM_001079691 human genbank 54_36p -1 validated silent c.408 p.T136 0.81 NULL superfamily_SSF52540 - no_errors N4BP2L2 10443 broad.mit.edu 36 13 31915740 31915740 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 31915740 31915740 G T SNP N4BP2L2 NM_033111 human genbank 54_36p -1 validated missense c.934 p.L312I 0 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors KL 9365 broad.mit.edu 36 13 32533040 32533040 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 32533040 32533040 G C SNP KL NM_004795 human genbank 54_36p 1 reviewed missense c.1824 p.Q608H 1 superfamily_(Trans)glycosidases "HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors NBEA 26960 broad.mit.edu 36 13 34513220 34513220 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 34513220 34513220 C T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.445 p.R149W 1 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors NBEA 26960 broad.mit.edu 36 13 34520725 34520725 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 34520725 34520725 A C SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.749 p.K250T 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_ARM repeat" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEA 26960 broad.mit.edu 36 13 34583048 34583048 + Silent SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 34583048 34583048 C T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed silent c.1935 p.H645 1 superfamily_ARM repeat "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEA 26960 broad.mit.edu 36 13 34636551 34636567 + Frame_Shift_Del DEL CATAACACAATTCACCT - CATAACACAATTCACCT novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D CATAACACAATTCACCT CATAACACAATTCACCT - - CATAACACAATTCACCT CATAACACAATTCACCT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 13 34636551 34636567 CATAACACAATTCACCT - DEL NBEA NM_015678 human genbank 54_36p 1 reviewed frame_shift_del c.4138_4154 p.N1381fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "(deletion:cds_exon[34636493,34636646])" no_errors NBEA 26960 broad.mit.edu 36 13 34668278 34668278 + Silent SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 34668278 34668278 T C SNP NBEA NM_015678 human genbank 54_36p 1 reviewed silent c.5205 p.I1735 0.9 superfamily_ARM repeat "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors MAB21L1 4081 broad.mit.edu 36 13 34947751 34947751 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 34947751 34947751 T G SNP MAB21L1 NM_005584 human genbank 54_36p -1 validated missense c.525 p.K175N 1 HMMPfam_Mab-21 HMMPfam_Mab-21 - no_errors MAB21L1 4081 broad.mit.edu 36 13 34947848 34947848 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 34947848 34947848 C T SNP MAB21L1 NM_005584 human genbank 54_36p -1 validated missense c.428 p.C143Y 1 HMMPfam_Mab-21 HMMPfam_Mab-21 - no_errors POSTN 10631 broad.mit.edu 36 13 37054560 37054560 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 37054560 37054560 G A SNP POSTN NM_006475 human genbank 54_36p -1 validated silent c.1335 p.N445 1 "superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554" "HMMPfam_EMI,superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554" - no_errors TRPC4 7223 broad.mit.edu 36 13 37109452 37109452 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 37109452 37109452 T G SNP TRPC4 NM_016179 human genbank 54_36p -1 validated missense c.2522 p.D841A 0.98 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2,PatternScan_RIBOSOMAL_S2_1" - no_errors TRPC4 7223 broad.mit.edu 36 13 37123457 37123457 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 37123457 37123457 G A SNP TRPC4 NM_016179 human genbank 54_36p -1 validated missense c.2024 p.T675I 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2,PatternScan_RIBOSOMAL_S2_1" - no_errors FREM2 341640 broad.mit.edu 36 13 38160554 38160554 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 38160554 38160554 A G SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.1073 p.N358S 1 NULL "HMMSmart_SM00237,HMMPfam_Calx-beta" - no_errors FREM2 341640 broad.mit.edu 36 13 38160686 38160686 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 38160686 38160686 C T SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.1205 p.S402F 1 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors FREM2 341640 broad.mit.edu 36 13 38160931 38160931 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 38160931 38160931 G A SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.1450 p.V484M 1 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors FREM2 341640 broad.mit.edu 36 13 38161731 38161731 + Missense_Mutation SNP C C A rs41292755 Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 38161731 38161731 C A SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.2250 p.D750E 1 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors FREM2 341640 broad.mit.edu 36 13 38351024 38351024 + Silent SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 38351024 38351024 C A SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed silent c.8916 p.A2972 0.96 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors C13orf23 80209 broad.mit.edu 36 13 38484999 38484999 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 38484999 38484999 G C SNP C13orf23 NM_025138 human genbank 54_36p -1 validated missense c.2390 p.P797R 0.35 NULL NULL - no_errors C13orf23 80209 broad.mit.edu 36 13 38485390 38485390 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 38485390 38485390 T C SNP C13orf23 NM_025138 human genbank 54_36p -1 validated missense c.1999 p.S667G 0.87 NULL NULL - no_errors C13orf23 80209 broad.mit.edu 36 13 38498450 38498450 + Silent SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 38498450 38498450 G C SNP C13orf23 NM_025138 human genbank 54_36p -1 validated silent c.444 p.P148 1 NULL NULL - no_errors ELF1 1997 broad.mit.edu 36 13 40415221 40415221 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 40415221 40415221 G C SNP ELF1 NM_172373 human genbank 54_36p -1 reviewed missense c.673 p.P225A 1 "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS" "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors KBTBD7 84078 broad.mit.edu 36 13 40666107 40666111 + Frame_Shift_Del DEL AAGTA - AAGTA novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 AAGTA AAGTA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 13 40666107 40666111 AAGTA - DEL KBTBD7 NM_032138 human genbank 54_36p -1 provisional frame_shift_del c.287_283 p.Y95fs 1.000:1.000:1.000:1.000:1.000 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" "(deletion:cds_exon[40664339,40666393])" no_errors KBTBD7 84078 broad.mit.edu 36 13 40666239 40666276 + Frame_Shift_Del DEL TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA - TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 13 40666239 40666276 TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA - DEL KBTBD7 NM_032138 human genbank 54_36p -1 provisional frame_shift_del c.155_118 p.L40fs 1.000:0.980:0.257:0.892:0.970:1.000:1.000:1.000:1.000:1.000:0.998:0.998:1.000:1.000:0.995:0.994:0.972:0.672:0.998:1.000:1.000:1.000:0.998:0.633:0.667:0.734:0.741:0.750:0.608:0.998:1.000:1.000:1.000:1.000:1.000:0.986:0.991:0.962 superfamily_POZ domain "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" "(deletion:cds_exon[40664339,40666393])" no_errors KIAA0564 23078 broad.mit.edu 36 13 41305524 41305524 + Silent SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 41305524 41305524 C T SNP KIAA0564 NM_015058 human genbank 54_36p -1 validated silent c.1569 p.T523 0.99 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327" - no_errors DGKH 160851 broad.mit.edu 36 13 41670647 41670647 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 41670647 41670647 G C SNP DGKH NM_178009 human genbank 54_36p 1 reviewed missense c.2201 p.G734A 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DGKH 160851 broad.mit.edu 36 13 41681575 41681575 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 41681575 41681575 A G SNP DGKH NM_178009 human genbank 54_36p 1 reviewed missense c.2824 p.R942G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors AKAP11 11215 broad.mit.edu 36 13 41771737 41771737 + Silent SNP T T C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 41771737 41771737 T C SNP AKAP11 NM_016248 human genbank 54_36p 1 reviewed silent c.855 p.S285 0 NULL NULL - no_errors SPERT 220082 broad.mit.edu 36 13 45185931 45185931 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 45185931 45185931 T A SNP SPERT NM_152719 human genbank 54_36p 1 provisional missense c.770 p.L257Q 1 NULL NULL - no_errors ZC3H13 23091 broad.mit.edu 36 13 45461023 45461023 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 45461023 45461023 C G SNP ZC3H13 NM_015070 human genbank 54_36p -1 validated missense c.1155 p.K385N 1 NULL "superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH" - no_errors LCP1 3936 broad.mit.edu 36 13 45630677 45630677 + Silent SNP G G T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 45630677 45630677 G T SNP LCP1 NM_002298 human genbank 54_36p -1 reviewed silent c.339 p.G113 1 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2" - no_errors ESD 2098 broad.mit.edu 36 13 46259170 46259170 + Silent SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 46259170 46259170 C A SNP ESD NM_001984 human genbank 54_36p -1 reviewed silent c.144 p.L48 0.08 "superfamily_SSF53474,HMMPfam_Esterase" "superfamily_SSF53474,HMMPfam_Esterase" - no_errors LPAR6 10161 broad.mit.edu 36 13 47884114 47884114 + Silent SNP T T G novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 47884114 47884114 T G SNP P2RY5 NM_005767 human genbank 54_36p -1 reviewed silent c.447 p.A149 0.66 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LPAR6 10161 broad.mit.edu 36 13 47884114 47884114 + Silent SNP T T G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 47884114 47884114 T G SNP P2RY5 NM_005767 human genbank 54_36p -1 reviewed silent c.447 p.A149 0.66 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LPAR6 10161 broad.mit.edu 36 13 47884114 47884114 + Silent SNP T T G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 47884114 47884114 T G SNP P2RY5 NM_005767 human genbank 54_36p -1 reviewed silent c.447 p.A149 0.66 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LPAR6 10161 broad.mit.edu 36 13 47884286 47884286 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 47884286 47884286 G A SNP P2RY5 NM_005767 human genbank 54_36p -1 reviewed missense c.275 p.S92F 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors RCBTB2 1102 broad.mit.edu 36 13 47975029 47975029 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 47975029 47975029 G A SNP RCBTB2 NM_001268 human genbank 54_36p -1 reviewed missense c.949 p.H317Y 1 "superfamily_RCC1/BLIP-II,HMMPfam_RCC1" "superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_2,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" - no_errors MLNR 2862 broad.mit.edu 36 13 48693313 48693313 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 48693313 48693313 C T SNP MLNR NM_001507 human genbank 54_36p 1 provisional missense c.839 p.P280L 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RCBTB1 55213 broad.mit.edu 36 13 49013926 49013926 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 49013926 49013926 T G SNP RCBTB1 NM_018191 human genbank 54_36p -1 reviewed missense c.1211 p.N404T 1 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "PatternScan_RCC1_1,superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_2,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" - no_errors ARL11 115761 broad.mit.edu 36 13 49102630 49102630 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 49102630 49102630 G T SNP ARL11 NM_138450 human genbank 54_36p 1 validated missense c.46 p.V16L 1 "HMMPfam_Arf,HMMSmart_ARF,superfamily_SSF52540" "PatternScan_ARF,HMMPfam_Arf,HMMSmart_ARF,superfamily_SSF52540" - no_errors EBPL 84650 broad.mit.edu 36 13 49163537 49163538 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 49163537 49163538 CC AG DNP EBPL NM_032565 human genbank 54_36p -1 provisional missense c.25_24 p.A9S 0.022:0.000 NULL HMMPfam_EBP - no_errors KPNA3 3839 broad.mit.edu 36 13 49181737 49181741 + Frame_Shift_Del DEL AAGAG - - novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 AAGAG AAGAG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 49181737 49181741 AAGAG - DEL KPNA3 NM_002267 human genbank 54_36p -1 reviewed frame_shift_del c.1004_1000 p.L334fs 1.000:1.000:1.000:1.000:1.000 "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" "HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" "(deletion:cds_exon[49181709,49181837])" no_errors DLEU7 220107 broad.mit.edu 36 13 50315471 50315473 + Missense_Mutation TNP GGG GGG TAT novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 GGG GGG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 50315471 50315473 GGG TAT TNP DLEU7 NM_198989 human genbank 54_36p -1 provisional missense c.311_313 p.P104H 0.051:0.041:0.139 NULL NULL - no_errors SERPINE3 647174 broad.mit.edu 36 13 50819273 50819273 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 50819273 50819273 G T SNP SERPINE3 NM_001101320 human genbank 54_36p 1 validated missense c.602 p.R201I 0.25 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors INTS6 26512 broad.mit.edu 36 13 50846393 50846393 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 50846393 50846393 T C SNP INTS6 NM_012141 human genbank 54_36p -1 reviewed missense c.2056 p.T686A 0 NULL "superfamily_vWA-like,PatternScan_DEAD_ATP_HELICASE" - no_errors ATP7B 540 broad.mit.edu 36 13 51407060 51407060 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 13 51407060 51407060 G A SNP ATP7B NM_000053 human genbank 54_36p -1 reviewed missense c.4231 p.R1411W 0.26 NULL ############################################################################################################################################################################################################################################################### - no_errors ALG11 440138 broad.mit.edu 36 13 51491265 51491265 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 51491265 51491265 G C SNP ALG11 NM_001004127 human genbank 54_36p 1 provisional missense c.260 p.R87T 1 superfamily_SSF53756 "superfamily_SSF53756,HMMPfam_Glycos_transf_1" - no_errors UTP14C 9724 broad.mit.edu 36 13 51501443 51501443 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 51501443 51501443 G A SNP UTP14C NM_021645 human genbank 54_36p 1 validated missense c.502 p.A168T 0.02 HMMPfam_Utp14 HMMPfam_Utp14 - no_errors UTP14C 9724 broad.mit.edu 36 13 51502309 51502309 + Silent SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 51502309 51502309 C T SNP UTP14C NM_021645 human genbank 54_36p 1 validated silent c.1368 p.S456 0 HMMPfam_Utp14 HMMPfam_Utp14 - no_errors UTP14C 9724 broad.mit.edu 36 13 51502326 51502326 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 51502326 51502326 C T SNP UTP14C NM_021645 human genbank 54_36p 1 validated missense c.1385 p.S462F 0.02 HMMPfam_Utp14 HMMPfam_Utp14 - no_errors NEK3 4752 broad.mit.edu 36 13 51607938 51607938 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 51607938 51607938 C A SNP NEK3 ENST00000258597 human ensembl 54_36p -1 known missense c.1240 p.D414Y 0.97 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00220,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors THSD1 55901 broad.mit.edu 36 13 51850087 51850087 + Silent SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 51850087 51850087 C T SNP THSD1 NM_018676 human genbank 54_36p -1 reviewed silent c.2019 p.L673 0.97 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors LECT1 11061 broad.mit.edu 36 13 52175822 52175822 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 52175822 52175822 G C SNP LECT1 NM_007015 human genbank 54_36p -1 reviewed missense c.914 p.P305R 1 NULL HMMPfam_BRICHOS - no_errors PCDH8 5100 broad.mit.edu 36 13 52318357 52318357 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 52318357 52318357 A C SNP PCDH8 NM_002590 human genbank 54_36p -1 reviewed missense c.2216 p.V739G 0.13 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDH17 27253 broad.mit.edu 36 13 57107191 57107191 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 57107191 57107191 C A SNP PCDH17 NM_001040429 human genbank 54_36p 1 reviewed missense c.2510 p.T837N 1 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDH9 5101 broad.mit.edu 36 13 66103410 66103410 + Silent SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 66103410 66103410 G A SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed silent c.3273 p.D1091 1 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMPfam_Protocadherin" - no_errors PCDH9 5101 broad.mit.edu 36 13 66375734 66375734 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 66375734 66375734 T C SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.3041 p.N1014S 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin-like" - no_errors PCDH9 5101 broad.mit.edu 36 13 66697664 66697664 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 66697664 66697664 G T SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.2910 p.D970E 1 HMMPfam_Protocadherin "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin-like" - no_errors KLHL1 57626 broad.mit.edu 36 13 69579662 69579662 + Silent SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 69579662 69579662 G A SNP KLHL1 NM_020866 human genbank 54_36p -1 validated silent c.171 p.L57 1 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors PIBF1 10464 broad.mit.edu 36 13 72326219 72326219 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 72326219 72326219 A G SNP PIBF1 NM_006346 human genbank 54_36p 1 validated missense c.1247 p.N416S 1 NULL NULL - no_errors KLF5 688 broad.mit.edu 36 13 72534581 72534581 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 72534581 72534581 G T SNP KLF5 NM_001730 human genbank 54_36p 1 reviewed missense c.843 p.M281I 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TBC1D4 9882 broad.mit.edu 36 13 74767050 74767050 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 74767050 74767050 G A SNP TBC1D4 NM_014832 human genbank 54_36p -1 validated missense c.3257 p.P1086L 1 "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors TBC1D4 9882 broad.mit.edu 36 13 74767118 74767118 + Silent SNP A A G novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 74767118 74767118 A G SNP TBC1D4 NM_014832 human genbank 54_36p -1 validated silent c.3189 p.H1063 1 "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors TBC1D4 9882 broad.mit.edu 36 13 74771643 74771643 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 74771643 74771643 G C SNP TBC1D4 NM_014832 human genbank 54_36p -1 validated missense c.2980 p.L994V 1 "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p" "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors TBC1D4 9882 broad.mit.edu 36 13 74784899 74784899 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 74784899 74784899 A C SNP TBC1D4 NM_014832 human genbank 54_36p -1 validated missense c.2359 p.S787A 1 NULL "HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" - no_errors KCTD12 115207 broad.mit.edu 36 13 76357361 76357361 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 76357361 76357361 C A SNP KCTD12 NM_138444 human genbank 54_36p -1 validated missense c.924 p.Q308H 1 NULL "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra" - no_errors SCEL 8796 broad.mit.edu 36 13 77035969 77035969 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 77035969 77035969 A G SNP SCEL NM_144777 human genbank 54_36p 1 reviewed missense c.224 p.K75R 0.49 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1" - no_errors SCEL 8796 broad.mit.edu 36 13 77074235 77074235 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 77074235 77074235 C T SNP SCEL NM_144777 human genbank 54_36p 1 reviewed nonsense c.952 p.Q318* 0.17 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1" - no_errors SCEL 8796 broad.mit.edu 36 13 77074835 77074835 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 77074835 77074835 T A SNP SCEL NM_144777 human genbank 54_36p 1 reviewed missense c.1023 p.N341K 0 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1" - no_errors SCEL 8796 broad.mit.edu 36 13 77075255 77075255 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 77075255 77075255 C T SNP SCEL NM_144777 human genbank 54_36p 1 reviewed missense c.1081 p.H361Y 0 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1" - no_errors NDFIP2 54602 broad.mit.edu 36 13 78993032 78993032 + Silent SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 13 78993032 78993032 G A SNP NDFIP2 NM_019080 human genbank 54_36p 1 provisional silent c.408 p.A136 0 NULL HMMPfam_DUF2370 - no_errors NDFIP2 54602 broad.mit.edu 36 13 78993083 78993083 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 78993083 78993083 T A SNP NDFIP2 NM_019080 human genbank 54_36p 1 provisional missense c.459 p.S153R 0.99 HMMPfam_DUF2370 HMMPfam_DUF2370 - no_errors SLITRK1 114798 broad.mit.edu 36 13 83352093 83352093 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 83352093 83352093 C A SNP SLITRK1 NM_052910 human genbank 54_36p -1 validated missense c.1551 p.Q517H 1 superfamily_SSF52058 "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMSmart_LRRNT" - no_errors SLITRK1 114798 broad.mit.edu 36 13 83352756 83352756 + Missense_Mutation SNP C C A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 83352756 83352756 C A SNP SLITRK1 NM_052910 human genbank 54_36p -1 validated missense c.888 p.E296D 0.98 NULL "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors SLITRK1 114798 broad.mit.edu 36 13 83352936 83352936 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 83352936 83352936 G A SNP SLITRK1 NM_052910 human genbank 54_36p -1 validated silent c.708 p.I236 1 "HMMSmart_LRRCT,superfamily_SSF52058" "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058" - no_errors SLITRK5 26050 broad.mit.edu 36 13 87128419 87128419 + Silent SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 87128419 87128419 A G SNP SLITRK5 NM_015567 human genbank 54_36p 1 validated silent c.2775 p.V925 1 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT" - no_errors GPC5 2262 broad.mit.edu 36 13 91143783 91143783 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 91143783 91143783 C T SNP GPC5 NM_004466 human genbank 54_36p 1 reviewed missense c.667 p.R223C 0.83 HMMPfam_Glypican "HMMPfam_Glypican,PatternScan_GLYPICAN" - no_errors GPC5 2262 broad.mit.edu 36 13 91178860 91178860 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 91178860 91178860 A G SNP GPC5 NM_004466 human genbank 54_36p 1 reviewed missense c.1094 p.E365G 1 HMMPfam_Glypican "HMMPfam_Glypican,PatternScan_GLYPICAN" - no_errors DCT 1638 broad.mit.edu 36 13 93919161 93919161 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 93919161 93919161 T G SNP DCT NM_001922 human genbank 54_36p -1 validated missense c.435 p.L145F 1 superfamily_Di-copper_centre "superfamily_Di-copper_centre,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2" - no_errors DZIP1 22873 broad.mit.edu 36 13 95040593 95040593 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 95040593 95040593 C T SNP DZIP1 NM_198968 human genbank 54_36p -1 validated missense c.1784 p.R595Q 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors UGGT2 55757 broad.mit.edu 36 13 95334927 95334927 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 95334927 95334927 C T SNP UGCGL2 NM_020121 human genbank 54_36p -1 provisional missense c.3047 p.R1016H 1 HMMPfam_UDP-g_GGTase "HMMPfam_UDP-g_GGTase,superfamily_Nucleotide-diphospho-sugar transferases" - no_errors OXGR1 27199 broad.mit.edu 36 13 96437140 96437141 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 96437140 96437141 GC AA DNP OXGR1 NM_080818 human genbank 54_36p -1 reviewed missense c.875_874 p.A292F 1.000:1.000 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OXGR1 27199 broad.mit.edu 36 13 96437261 96437261 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 96437261 96437261 C T SNP OXGR1 NM_080818 human genbank 54_36p -1 reviewed missense c.754 p.V252I 0.47 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors FARP1 10160 broad.mit.edu 36 13 97841105 97841105 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 13 97841105 97841105 A T SNP FARP1 NM_005766 human genbank 54_36p 1 reviewed missense c.1058 p.E353V 1 "superfamily_PH domain-like,HMMPfam_FA" ############################################################################################################################################################################################################################################################### - no_errors STK24 8428 broad.mit.edu 36 13 97913946 97913946 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 13 97913946 97913946 G C SNP STK24 NM_003576 human genbank 54_36p -1 validated missense c.965 p.A322G 0.09 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors DOCK9 23348 broad.mit.edu 36 13 98250647 98250647 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 98250647 98250647 C G SNP DOCK9 NM_015296 human genbank 54_36p -1 validated missense c.5857 p.D1953H 1 HMMPfam_Ded_cyto "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto" - no_errors UBAC2 337867 broad.mit.edu 36 13 98764371 98764371 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 98764371 98764371 C G SNP UBAC2 NM_177967 human genbank 54_36p 1 validated missense c.304 p.L102V 1 NULL "superfamily_UBA_like,HMMPfam_UBA,HMMSmart_UBA" - no_errors TM9SF2 9375 broad.mit.edu 36 13 99005865 99005865 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 99005865 99005865 C T SNP TM9SF2 NM_004800 human genbank 54_36p 1 provisional missense c.1715 p.A572V 1 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors FGF14 2259 broad.mit.edu 36 13 101177047 101177047 + Silent SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 101177047 101177047 A G SNP FGF14 NM_175929 human genbank 54_36p -1 reviewed silent c.538 p.L180 1 "superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF" "superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF" - no_errors TPP2 7174 broad.mit.edu 36 13 102128653 102128653 + Missense_Mutation SNP T T G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 102128653 102128653 T G SNP TPP2 NM_003291 human genbank 54_36p 1 reviewed missense c.3736 p.Y1246D 1 NULL "PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER" - no_errors ERCC5 2073 broad.mit.edu 36 13 102302613 102302613 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 102302613 102302613 G T SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed missense c.233 p.G78V 1 "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1" "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors ERCC5 2073 broad.mit.edu 36 13 102325926 102325926 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 102325926 102325926 C T SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed missense c.3233 p.S1078F 0.05 NULL "HMMPfam_XPG_N,HMMSmart_SM00485,HMMPfam_XPG_I,HMMSmart_SM00484,PatternScan_XPG_2,HMMSmart_SM00279,PatternScan_XPG_1,superfamily_5' to 3' exonuclease C-terminal subdomain,superfamily_PIN domain-like" - no_errors SLC10A2 6555 broad.mit.edu 36 13 102501610 102501610 + Nonsense_Mutation SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 102501610 102501610 G C SNP SLC10A2 NM_000452 human genbank 54_36p -1 validated nonsense c.759 p.Y253* 1 NULL HMMPfam_SBF - no_errors SLC10A2 6555 broad.mit.edu 36 13 102501769 102501769 + Silent SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 102501769 102501769 C T SNP SLC10A2 NM_000452 human genbank 54_36p -1 validated silent c.600 p.A200 0 HMMPfam_SBF HMMPfam_SBF - no_errors EFNB2 1948 broad.mit.edu 36 13 105943609 105943609 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 105943609 105943609 G A SNP EFNB2 NM_004093 human genbank 54_36p -1 reviewed missense c.782 p.P261L 1 NULL "HMMPfam_Ephrin,superfamily_Cupredoxin,PatternScan_EPHRIN" - no_errors LIG4 3981 broad.mit.edu 36 13 107659829 107659829 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 107659829 107659829 C A SNP LIG4 NM_001098268 human genbank 54_36p -1 reviewed missense c.1789 p.D597Y 1 NULL "HMMPfam_DNA_ligase_A_N,superfamily_SSF56091,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT" - no_errors LIG4 3981 broad.mit.edu 36 13 107660143 107660143 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 107660143 107660143 G A SNP LIG4 NM_001098268 human genbank 54_36p -1 reviewed missense c.1475 p.P492L 0.95 HMMPfam_DNA_ligase_A_C "HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMPfam_DNA_ligase_A_N,HMMPfam_DNA_ligase_A_C,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A2,PatternScan_DNA_LIGASE_A1,superfamily_SSF56091" - no_errors ABHD13 84945 broad.mit.edu 36 13 107680236 107680236 + Silent SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 13 107680236 107680236 A G SNP ABHD13 NM_032859 human genbank 54_36p 1 validated silent c.669 p.P223 0.9 "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors TNFSF13B 10673 broad.mit.edu 36 13 107720506 107720506 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 107720506 107720506 G C SNP TNFSF13B NM_006573 human genbank 54_36p 1 reviewed missense c.262 p.A88P 0 NULL "superfamily_TNF-like,HMMPfam_TNF" - no_errors MYO16 23026 broad.mit.edu 36 13 108270690 108270691 + Missense_Mutation DNP AT AT TA novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 AT AT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 108270690 108270691 AT TA DNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.806_807 p.N269I 0.740:0.891 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors MYO16 23026 broad.mit.edu 36 13 108502774 108502774 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 13 108502774 108502774 A G SNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.2932 p.T978A 0 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO16 23026 broad.mit.edu 36 13 108591694 108591694 + Silent SNP C C T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 108591694 108591694 C T SNP MYO16 NM_015011 human genbank 54_36p 1 validated silent c.5067 p.S1689 0.99 NULL "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors COL4A1 1282 broad.mit.edu 36 13 109629692 109629692 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 109629692 109629692 C G SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed missense c.2271 p.K757N 1 HMMPfam_Collagen "HMMPfam_Collagen,superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111" - no_errors ARHGEF7 8874 broad.mit.edu 36 13 110733538 110733538 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 110733538 110733538 G A SNP ARHGEF7 NM_145735 human genbank 54_36p 1 reviewed missense c.1777 p.A593T 0.89 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors ATP11A 23250 broad.mit.edu 36 13 112521659 112521659 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 112521659 112521659 A G SNP ATP11A NM_032189 human genbank 54_36p 1 reviewed missense c.611 p.E204G 0.99 "superfamily_Calcium ATPase transmembrane domain M,superfamily_Calcium ATPase transduction domain A" "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP11A 23250 broad.mit.edu 36 13 112533842 112533842 + Silent SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 112533842 112533842 G A SNP ATP11A NM_032189 human genbank 54_36p 1 reviewed silent c.1374 p.S458 0.35 "superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M" "HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M" - no_errors ATP11A 23250 broad.mit.edu 36 13 112560572 112560572 + Silent SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 112560572 112560572 G A SNP ATP11A NM_032189 human genbank 54_36p 1 reviewed silent c.2634 p.R878 1 superfamily_Calcium ATPase transmembrane domain M "HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M" - no_errors MCF2L 23263 broad.mit.edu 36 13 112682002 112682002 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 112682002 112682002 C G SNP MCF2L ENST00000375601 human ensembl 54_36p 1 known missense c.20 p.S7C 0 NULL "HMMSmart_SEC14,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors MCF2L 23263 broad.mit.edu 36 13 112747657 112747657 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 112747657 112747657 C T SNP MCF2L NM_024979 human genbank 54_36p 1 validated missense c.344 p.A115V 0.97 HMMSmart_SEC14 "HMMSmart_SEC14,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors F7 2155 broad.mit.edu 36 13 112821173 112821173 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 112821173 112821173 C A SNP F7 NM_000131 human genbank 54_36p 1 reviewed nonsense c.1251 p.Y417* 0.99 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors GRK1 6011 broad.mit.edu 36 13 113372123 113372123 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 13 113372123 113372123 G T SNP GRK1 NM_002929 human genbank 54_36p 1 reviewed missense c.820 p.D274Y 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_stop_codon:bad_bp_length_for_coding_region GAS6 100128430 broad.mit.edu 36 13 113572816 113572816 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 113572816 113572816 C T SNP LOC100128430 XM_001721612 human genbank 54_36p -1 model nonsense c.147 p.W49* 0.73 NULL NULL - no_errors FAM70B 348013 broad.mit.edu 36 13 113599140 113599140 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 113599140 113599140 G A SNP FAM70B NM_182614 human genbank 54_36p -1 provisional missense c.908 p.P303L 0 NULL NULL - no_errors RASA3 22821 broad.mit.edu 36 13 113769356 113769356 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 13 113769356 113769356 T G SNP RASA3 NM_007368 human genbank 54_36p -1 reviewed missense c.2261 p.K754T 1 NULL "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK" - no_errors ZNF828 283489 broad.mit.edu 36 13 114108760 114108760 + Silent SNP T T C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 114108760 114108760 T C SNP ZNF828 NM_032436 human genbank 54_36p 1 provisional silent c.1341 p.D447 0.32 NULL "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors POTEG 404785 broad.mit.edu 36 14 18623823 18623823 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 18623823 18623823 G A SNP POTEG NM_001005356 human genbank 54_36p 1 validated missense c.407 p.R136H 0 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors OR4N2 390429 broad.mit.edu 36 14 19365760 19365760 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19365760 19365760 C T SNP OR4N2 NM_001004723 human genbank 54_36p 1 provisional missense c.313 p.H105Y 0.81 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K5 79317 broad.mit.edu 36 14 19458896 19458896 + Silent SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19458896 19458896 C T SNP OR4K5 NM_001005483 human genbank 54_36p 1 provisional silent c.291 p.C97 0.64 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K15 81127 broad.mit.edu 36 14 19513894 19513894 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19513894 19513894 T A SNP OR4K15 NM_001005486 human genbank 54_36p 1 provisional missense c.377 p.F126Y 0.61 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K13 390433 broad.mit.edu 36 14 19571894 19571894 + Silent SNP T T C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19571894 19571894 T C SNP OR4K13 NM_001004714 human genbank 54_36p -1 provisional silent c.864 p.T288 0.18 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K13 390433 broad.mit.edu 36 14 19571935 19571935 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 19571935 19571935 A G SNP OR4K13 NM_001004714 human genbank 54_36p -1 provisional missense c.823 p.Y275H 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR4K13 390433 broad.mit.edu 36 14 19572157 19572157 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19572157 19572157 C A SNP OR4K13 NM_001004714 human genbank 54_36p -1 provisional missense c.601 p.A201S 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR11G2 390439 broad.mit.edu 36 14 19735809 19735809 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19735809 19735809 G C SNP OR11G2 NM_001005503 human genbank 54_36p 1 provisional missense c.475 p.D159H 1 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR11G2 390439 broad.mit.edu 36 14 19735929 19735929 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 19735929 19735929 G A SNP OR11G2 NM_001005503 human genbank 54_36p 1 provisional missense c.595 p.V199I 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors TTC5 91875 broad.mit.edu 36 14 19827741 19827741 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19827741 19827741 T A SNP TTC5 NM_138376 human genbank 54_36p -1 provisional missense c.1208 p.Y403F 0.99 NULL "superfamily_SSF48452,HMMPfam_TPR_1" - no_errors TEP1 7011 broad.mit.edu 36 14 19906445 19906445 + Silent SNP A A G novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 19906445 19906445 A G SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed silent c.7875 p.N2625 0.94 superfamily_WD40 repeat-like "HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors TEP1 7011 broad.mit.edu 36 14 19916456 19916456 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19916456 19916456 C G SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.5431 p.E1811Q 0.92 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" "HMMSmart_SM00320,HMMPfam_NACHT,HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TEP1 7011 broad.mit.edu 36 14 19921788 19921788 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 19921788 19921788 G T SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.3664 p.L1222M 0.99 "HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00320,HMMPfam_NACHT,HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TEP1 7011 broad.mit.edu 36 14 19933904 19933904 + Silent SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 19933904 19933904 G A SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed silent c.1704 p.N568 1 HMMPfam_TROVE "HMMSmart_SM00320,HMMPfam_NACHT,HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TEP1 7011 broad.mit.edu 36 14 19939105 19939105 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 19939105 19939105 C T SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.1427 p.R476H 1 HMMPfam_TROVE "HMMSmart_SM00320,HMMPfam_NACHT,HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PNP 4860 broad.mit.edu 36 14 20010384 20010385 + Frame_Shift_Del DEL TC - TC novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 TC TC - - TC TC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 20010384 20010385 TC - DEL NP NM_000270 human genbank 54_36p 1 reviewed frame_shift_del c.89_90 p.I30fs 1.000:0.991 "superfamily_SSF53167,HMMPfam_PNP_UDP_1" "superfamily_SSF53167,HMMPfam_PNP_UDP_1,PatternScan_PNP_MTAP_2" "(deletion:cds_exon[20010307,20010476])" no_errors RNASE9 390443 broad.mit.edu 36 14 20094609 20094609 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20094609 20094609 T G SNP RNASE9 NM_001001673 human genbank 54_36p -1 provisional missense c.460 p.K154Q 0 superfamily_RNase A-like superfamily_RNase A-like - no_errors RNASE9 390443 broad.mit.edu 36 14 20094690 20094690 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20094690 20094690 T G SNP RNASE9 NM_001001673 human genbank 54_36p -1 provisional missense c.379 p.I127L 0 superfamily_RNase A-like superfamily_RNase A-like - no_errors OR6S1 341799 broad.mit.edu 36 14 20179490 20179490 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20179490 20179490 G C SNP OR6S1 NM_001001968 human genbank 54_36p -1 provisional missense c.201 p.N67K 0.96 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors EDDM3B 64184 broad.mit.edu 36 14 20308225 20308225 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20308225 20308225 A G SNP FAM12B NM_022360 human genbank 54_36p 1 validated missense c.76 p.K26E 0 NULL superfamily_RNaseA - no_errors RNASE1 6035 broad.mit.edu 36 14 20339645 20339645 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 20339645 20339645 G T SNP RNASE1 NM_002933 human genbank 54_36p -1 reviewed missense c.423 p.S141R 0.84 "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA" "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors RNASE3 6037 broad.mit.edu 36 14 20429984 20429984 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 20429984 20429984 G A SNP RNASE3 NM_002935 human genbank 54_36p 1 validated missense c.299 p.R100Q 0 "superfamily_RNaseA,HMMSmart_RNAse_Pc,HMMPfam_RnaseA" "superfamily_RNaseA,HMMSmart_RNAse_Pc,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors SLC39A2 29986 broad.mit.edu 36 14 20537526 20537526 + Silent SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20537526 20537526 C T SNP SLC39A2 NM_014579 human genbank 54_36p 1 validated silent c.81 p.I27 1 HMMPfam_Zip HMMPfam_Zip - no_errors SLC39A2 29986 broad.mit.edu 36 14 20539252 20539252 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20539252 20539252 C T SNP SLC39A2 NM_014579 human genbank 54_36p 1 validated missense c.604 p.H202Y 1 HMMPfam_Zip HMMPfam_Zip - no_errors RNASE13 440163 broad.mit.edu 36 14 20572058 20572058 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 20572058 20572058 G T SNP RNASE13 NM_001012264 human genbank 54_36p -1 validated missense c.230 p.A77D 0.02 superfamily_RNaseA superfamily_RNaseA - no_errors RNASE7 84659 broad.mit.edu 36 14 20581370 20581370 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20581370 20581370 A C SNP RNASE7 NM_032572 human genbank 54_36p 1 validated missense c.379 p.N127H 0 "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA" "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors FLJ10357 55701 broad.mit.edu 36 14 20616962 20616962 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 20616962 20616962 C A SNP FLJ10357 NM_018071 human genbank 54_36p 1 validated missense c.2326 p.H776N 0.28 NULL "superfamily_DBL homology domain (DH-domain),superfamily_PH domain-like,HMMSmart_SM00233" - no_errors FLJ10357 55701 broad.mit.edu 36 14 20620094 20620094 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 20620094 20620094 G T SNP FLJ10357 NM_018071 human genbank 54_36p 1 validated missense c.3227 p.R1076L 0.72 NULL "superfamily_DBL homology domain (DH-domain),HMMSmart_SM00233,superfamily_PH domain-like" - no_errors RPGRIP1 57096 broad.mit.edu 36 14 20855751 20855751 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20855751 20855751 C A SNP RPGRIP1 NM_020366 human genbank 54_36p 1 reviewed missense c.1208 p.A403E 0 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors RPGRIP1 57096 broad.mit.edu 36 14 20863383 20863383 + Splice_Site SNP G G T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20863383 20863383 G T SNP RPGRIP1 NM_020366 human genbank 54_36p 1 reviewed splice_site c.2367+1 e15+1 1 - - - no_errors RPGRIP1 57096 broad.mit.edu 36 14 20881203 20881203 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20881203 20881203 G A SNP RPGRIP1 NM_020366 human genbank 54_36p 1 reviewed missense c.3508 p.E1170K 1 NULL "HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors RPGRIP1 57096 broad.mit.edu 36 14 20889180 20889180 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20889180 20889180 A G SNP RPGRIP1 NM_020366 human genbank 54_36p 1 reviewed missense c.3826 p.I1276V 0.72 NULL "HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors SUPT16H 11198 broad.mit.edu 36 14 20901013 20901037 + Splice_Site DEL TGCTCAGTGAAAACTCTTACTTCTG - TGCTCAGTGAAAACTCTTACTTCTG novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W TGCTCAGTGAAAACTCTTACTTCTG TGCTCAGTGAAAACTCTTACTTCTG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 20901013 20901037 TGCTCAGTGAAAACTCTTACTTCTG - DEL SUPT16H NM_007192 human genbank 54_36p -1 reviewed splice_site_del c.1511+6_1511+1 e14-1 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.024:0.035:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - "(deletion:intron[20900947,20901032], cds_exon[20901033,20901148])" no_errors CHD8 57680 broad.mit.edu 36 14 20946781 20946781 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20946781 20946781 T C SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.1571 p.H524R 0.89 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors CHD8 57680 broad.mit.edu 36 14 20966253 20966253 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 20966253 20966253 C G SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.379 p.A127P 1 NULL "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SALL2 6297 broad.mit.edu 36 14 21061409 21061409 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 21061409 21061409 C A SNP SALL2 NM_005407 human genbank 54_36p -1 validated nonsense c.2293 p.E765* 0.02 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors DAD1 1603 broad.mit.edu 36 14 22127883 22127884 + Frame_Shift_Del DEL AG - AG novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W AG AG - - AG AG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 22127883 22127884 AG - DEL DAD1 NM_001344 human genbank 54_36p -1 reviewed frame_shift_del c.21_20 p.S7fs 0.997:1.000 HMMPfam_DAD HMMPfam_DAD "(deletion:cds_exon[22127693,22127903])" no_errors SLC7A7 9056 broad.mit.edu 36 14 22317889 22317889 + Silent SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 22317889 22317889 G C SNP SLC7A7 NM_003982 human genbank 54_36p -1 reviewed silent c.723 p.G241 1 HMMPfam_AA_permease "PatternScan_AMINO_ACID_PERMEASE_1,HMMPfam_AA_permease" - no_errors REM2 161253 broad.mit.edu 36 14 22425178 22425178 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 22425178 22425178 A G SNP REM2 NM_173527 human genbank 54_36p 1 validated missense c.625 p.T209A 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174,HMMPfam_Ras" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00174,HMMPfam_Ras" - no_errors ACIN1 22985 broad.mit.edu 36 14 22617242 22617242 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 22617242 22617242 T G SNP ACIN1 NM_014977 human genbank 54_36p -1 validated missense c.2255 p.Q752P 1 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_RNA-binding domain RBD" - no_errors CEBPE 1053 broad.mit.edu 36 14 22656582 22656582 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 22656582 22656582 A G SNP CEBPE NM_001805 human genbank 54_36p -1 reviewed missense c.800 p.I267T 1 NULL "PatternScan_BZIP_BASIC,HMMSmart_BRLZ,HMMPfam_bZIP_2" - no_errors SLC7A8 23428 broad.mit.edu 36 14 22679626 22679626 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 22679626 22679626 C T SNP SLC7A8 NM_012244 human genbank 54_36p -1 validated missense c.682 p.E228K 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors SLC22A17 51310 broad.mit.edu 36 14 22886663 22886663 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 22886663 22886663 G C SNP SLC22A17 NM_020372 human genbank 54_36p -1 provisional missense c.1062 p.F354L 1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1,PatternScan_AA_TRNA_LIGASE_I" - no_errors MYH7 4625 broad.mit.edu 36 14 22958572 22958572 + Silent SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 22958572 22958572 G A SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed silent c.3813 p.N1271 0.99 "HMMPfam_Myosin_tail_1,superfamily_Prefoldin" "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors MYH7 4625 broad.mit.edu 36 14 22965067 22965067 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 22965067 22965067 C T SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed missense c.2108 p.R703H 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH7 4625 broad.mit.edu 36 14 22971763 22971763 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 22971763 22971763 G A SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed missense c.427 p.R143W 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AP1G2 8906 broad.mit.edu 36 14 23105182 23105182 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23105182 23105182 G A SNP AP1G2 NM_003917 human genbank 54_36p -1 reviewed missense c.499 p.R167W 1 "superfamily_ARM-type_fold,HMMPfam_Adaptin_N" "superfamily_ARM-type_fold,HMMPfam_Adaptin_N,superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2" - no_errors JPH4 84502 broad.mit.edu 36 14 23110511 23110511 + Splice_Site SNP T T A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23110511 23110511 T A SNP JPH4 NM_032452 human genbank 54_36p -1 reviewed splice_site c.1271-2 e4-2 1 - - - no_errors DHRS2 10202 broad.mit.edu 36 14 23178002 23178002 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23178002 23178002 G A SNP DHRS2 NM_182908 human genbank 54_36p 1 validated missense c.89 p.R30K 0 NULL "superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors LRRC16B 90668 broad.mit.edu 36 14 23595742 23595742 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23595742 23595742 G C SNP LRRC16B NM_138360 human genbank 54_36p 1 validated missense c.937 p.A313P 1 superfamily_RNI-like "superfamily_RNI-like,HMMSmart_SM00368" - no_errors LRRC16B 90668 broad.mit.edu 36 14 23601595 23601595 + Silent SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23601595 23601595 C G SNP LRRC16B NM_138360 human genbank 54_36p 1 validated silent c.2547 p.L849 0.86 NULL "HMMSmart_SM00368,superfamily_RNI-like" - no_errors RNF31 55072 broad.mit.edu 36 14 23689492 23689492 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23689492 23689492 C A SNP RNF31 NM_017999 human genbank 54_36p 1 validated missense c.1192 p.L398I 1 NULL "HMMPfam_PUB,superfamily_Znf265 first zinc-finger domain,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_NZF domain,HMMPfam_zf-RanBP,superfamily_RING/U-box,HMMSmart_SM00647,PatternScan_ZF_RING_1" - no_errors GMPR2 51292 broad.mit.edu 36 14 23776199 23776199 + Splice_Site SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23776199 23776199 G C SNP GMPR2 NM_016576 human genbank 54_36p 1 validated splice_site c.601+1 e5+1 1 - - - no_errors GMPR2 51292 broad.mit.edu 36 14 23777318 23777318 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 14 23777318 23777318 G C SNP GMPR2 NM_016576 human genbank 54_36p 1 validated missense c.778 p.G260R 1 "superfamily_Inosine monophosphate dehydrogenase (IMPDH),HMMPfam_IMPDH" "superfamily_Inosine monophosphate dehydrogenase (IMPDH),HMMPfam_IMPDH,PatternScan_IMP_DH_GMP_RED" - no_errors GMPR2 51292 broad.mit.edu 36 14 23777660 23777660 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 23777660 23777660 G C SNP GMPR2 NM_016576 human genbank 54_36p 1 validated missense c.937 p.V313L 1 "HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH)" "HMMPfam_IMPDH,PatternScan_IMP_DH_GMP_RED,superfamily_Inosine monophosphate dehydrogenase (IMPDH)" - no_errors TGM1 7051 broad.mit.edu 36 14 23793822 23793822 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23793822 23793822 A G SNP TGM1 NM_000359 human genbank 54_36p -1 reviewed missense c.1976 p.L659P 1 "superfamily_Transglut_C,HMMPfam_Transglut_C" "superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core,superfamily_Transglut_C,HMMPfam_Transglut_C" - no_errors TGM1 7051 broad.mit.edu 36 14 23800742 23800743 + Missense_Mutation DNP GA GA AT novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 23800742 23800743 GA AT DNP TGM1 NM_000359 human genbank 54_36p -1 reviewed missense c.507_506 p.I169N 0.123:0.133 "HMMPfam_Transglut_N,superfamily_Ig_E-set" "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_TGc,HMMPfam_Transglut_C,superfamily_Transglut_C,PatternScan_TRANSGLUTAMINASES,superfamily_Ig_E-set,superfamily_SSF54001" - no_errors LTB4R2 56413 broad.mit.edu 36 14 23849749 23849749 + Silent SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 23849749 23849749 G A SNP LTB4R2 NM_019839 human genbank 54_36p 1 provisional silent c.132 p.L44 0.16 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors ADCY4 196883 broad.mit.edu 36 14 23861158 23861158 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 23861158 23861158 G A SNP ADCY4 NM_139247 human genbank 54_36p -1 reviewed missense c.2540 p.P847L 1 HMMSmart_SM00044 "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053" - no_errors NFATC4 4776 broad.mit.edu 36 14 23908629 23908629 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 23908629 23908629 C A SNP NFATC4 NM_004554 human genbank 54_36p 1 reviewed missense c.185 p.P62H 0.85 NULL "superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors KHNYN 23351 broad.mit.edu 36 14 23970921 23970921 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 23970921 23970921 C T SNP KIAA0323 NM_015299 human genbank 54_36p 1 validated missense c.614 p.A205V 0 NULL NULL - no_errors CTSG 1511 broad.mit.edu 36 14 24113465 24113465 + Silent SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 24113465 24113465 C T SNP CTSG NM_001911 human genbank 54_36p -1 reviewed silent c.420 p.T140 0 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors GZMH 2999 broad.mit.edu 36 14 24146728 24146728 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 24146728 24146728 G T SNP GZMH NM_033423 human genbank 54_36p -1 provisional missense c.269 p.P90H 0.02 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors FOXG1 2290 broad.mit.edu 36 14 28306971 28306971 + Silent SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 28306971 28306971 C T SNP FOXG1 NM_005249 human genbank 54_36p 1 reviewed silent c.735 p.H245 1 "HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head" "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors PRKD1 5587 broad.mit.edu 36 14 29169942 29169942 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 29169942 29169942 C T SNP PRKD1 NM_002742 human genbank 54_36p -1 validated missense c.1429 p.V477I 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PRKD1 5587 broad.mit.edu 36 14 29177679 29177679 + Silent SNP C C G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 29177679 29177679 C G SNP PRKD1 NM_002742 human genbank 54_36p -1 validated silent c.879 p.G293 0.84 "HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889" "HMMPfam_PH,HMMSmart_PH,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF50729,superfamily_SSF57889" - no_errors G2E3 55632 broad.mit.edu 36 14 30151266 30151266 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 30151266 30151266 G A SNP G2E3 NM_017769 human genbank 54_36p 1 validated missense c.1603 p.D535N 1 "superfamily_HECT,HMMPfam_HECT" "HMMSmart_PHD,PatternScan_ZF_PHD_1,HMMSmart_RING,superfamily_HECT,HMMPfam_HECT" - no_errors HECTD1 25831 broad.mit.edu 36 14 30653011 30653011 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 30653011 30653011 G C SNP HECTD1 NM_015382 human genbank 54_36p -1 validated missense c.5679 p.C1893W 1 NULL "superfamily_ARM repeat,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC,HMMPfam_MIB_HERC2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors ARHGAP5 394 broad.mit.edu 36 14 31632657 31632657 + Silent SNP A A C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 31632657 31632657 A C SNP ARHGAP5 NM_001030055 human genbank 54_36p 1 reviewed silent c.3031 p.R1011 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors AKAP6 9472 broad.mit.edu 36 14 32084933 32084933 + Silent SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 32084933 32084933 G A SNP AKAP6 NM_004274 human genbank 54_36p 1 reviewed silent c.1323 p.L441 0.71 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,PatternScan_PFKB_KINASES_2" - no_errors AKAP6 9472 broad.mit.edu 36 14 32361192 32361192 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 32361192 32361192 A C SNP AKAP6 NM_004274 human genbank 54_36p 1 reviewed missense c.4422 p.Q1474H 1 NULL "PatternScan_PFKB_KINASES_2,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors AKAP6 9472 broad.mit.edu 36 14 32361328 32361328 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 32361328 32361328 C A SNP AKAP6 NM_004274 human genbank 54_36p 1 reviewed missense c.4558 p.P1520T 1 NULL "PatternScan_PFKB_KINASES_2,HMMSmart_SM00150,superfamily_Spectrin repeat" - no_errors SNX6 58533 broad.mit.edu 36 14 34120520 34120520 + Silent SNP T T G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 34120520 34120520 T G SNP SNX6 NM_152233 human genbank 54_36p -1 reviewed silent c.868 p.R290 1 HMMPfam_Vps5 "superfamily_PX domain,HMMPfam_PX,HMMPfam_Vps5" - no_errors SRP54 6729 broad.mit.edu 36 14 34561934 34561934 + Silent SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 34561934 34561934 A G SNP SRP54 NM_003136 human genbank 54_36p 1 provisional silent c.1224 p.R408 1 "superfamily_Signal peptide-binding domain,HMMPfam_SRP_SPB" "HMMPfam_SRP54_N,superfamily_Domain of the SRP/SRP receptor G-proteins,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_SRP54,PatternScan_SRP54,superfamily_Signal peptide-binding domain,HMMPfam_SRP_SPB" - no_errors MIPOL1 145282 broad.mit.edu 36 14 36847325 36847325 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 36847325 36847325 C A SNP MIPOL1 NM_138731 human genbank 54_36p 1 validated missense c.678 p.N226K 1 NULL NULL - no_errors SSTR1 6751 broad.mit.edu 36 14 37749231 37749231 + Frame_Shift_Del DEL T - T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 37749231 37749231 T - DEL SSTR1 NM_001049 human genbank 54_36p 1 reviewed frame_shift_del c.886 p.F296fs 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "(deletion:cds_exon[37748346,37749521])" no_errors CLEC14A 161198 broad.mit.edu 36 14 37794073 37794073 + Silent SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 37794073 37794073 G C SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional silent c.906 p.P302 0 superfamily_SSF57196 "PatternScan_EGF_1,PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMSmart_EGF,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors CLEC14A 161198 broad.mit.edu 36 14 37794184 37794184 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 37794184 37794184 G C SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.795 p.D265E 0 "PatternScan_ASX_HYDROXYL,HMMSmart_EGF,superfamily_SSF57196" "PatternScan_ASX_HYDROXYL,HMMSmart_CLECT,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196" - no_errors SEC23A 10484 broad.mit.edu 36 14 38606220 38606220 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 38606220 38606220 T C SNP SEC23A NM_006364 human genbank 54_36p -1 reviewed missense c.1135 p.T379A 1 "superfamily_SSF81995,HMMPfam_Sec23_trunk,superfamily_SSF53300" "superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin" - no_errors SEC23A 10484 broad.mit.edu 36 14 38635059 38635059 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 38635059 38635059 C A SNP SEC23A NM_006364 human genbank 54_36p -1 reviewed missense c.15 p.L5F 1 NULL "HMMPfam_zf-Sec23_Sec24,superfamily_Znf_Sec23_Sec24,HMMPfam_Sec23_trunk,HMMPfam_Sec23_helical,superfamily_Sec23_helical,HMMPfam_Gelsolin,HMMPfam_Sec23_BS,superfamily_SSF53300,superfamily_SSF81995,superfamily_SSF82754" - no_errors PNN 5411 broad.mit.edu 36 14 38719972 38719972 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 38719972 38719972 T A SNP PNN NM_002687 human genbank 54_36p 1 validated missense c.1308 p.D436E 1 NULL "HMMPfam_Pinin_SDK_N,HMMPfam_Pinin_SDK_memA" - no_errors MIA2 117153 broad.mit.edu 36 14 38792090 38792090 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 38792090 38792090 T A SNP MIA2 NM_054024 human genbank 54_36p 1 validated missense c.1851 p.N617K 0.01 NULL "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" - no_errors LRFN5 145581 broad.mit.edu 36 14 41425761 41425761 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 41425761 41425761 T A SNP LRFN5 NM_152447 human genbank 54_36p 1 validated missense c.183 p.N61K 1 superfamily_SSF52058 "HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like" - no_errors LRFN5 145581 broad.mit.edu 36 14 41426911 41426911 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 41426911 41426911 C T SNP LRFN5 NM_152447 human genbank 54_36p 1 validated missense c.1333 p.R445C 1 "HMMPfam_fn3,superfamily_FN_III-like" "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058" - no_errors LRFN5 145581 broad.mit.edu 36 14 41430889 41430889 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 41430889 41430889 C T SNP LRFN5 NM_152447 human genbank 54_36p 1 validated missense c.2072 p.T691M 0.98 NULL "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058" - no_errors LRFN5 145581 broad.mit.edu 36 14 41443117 41443117 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 41443117 41443117 G T SNP LRFN5 NM_152447 human genbank 54_36p 1 validated nonsense c.2149 p.E717* 1 NULL "HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058" - no_errors FSCB 84075 broad.mit.edu 36 14 44044601 44044601 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 14 44044601 44044601 T A SNP FSCB NM_032135 human genbank 54_36p -1 validated missense c.1340 p.E447V 0 NULL NULL - no_errors C14orf28 122525 broad.mit.edu 36 14 44439458 44439458 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 44439458 44439458 A T SNP C14orf28 NM_001017923 human genbank 54_36p 1 validated missense c.70 p.R24W 1 NULL NULL - no_errors PRPF39 55015 broad.mit.edu 36 14 44653189 44653191 + In_Frame_Del DEL TAA - TAA novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 TAA TAA - - TAA TAA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 44653189 44653191 TAA - DEL PRPF39 NM_017922 human genbank 54_36p 1 validated in_frame_del c.1811_1813 p.LKRKA604in_frame_del* 1.000:1.000:1.000 NULL "superfamily_TPR-like,HMMSmart_SM00386" "(deletion:cds_exon[44653136,44653210])" no_errors FANCM 57697 broad.mit.edu 36 14 44714326 44714326 + Silent SNP T T C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 44714326 44714326 T C SNP FANCM NM_020937 human genbank 54_36p 1 reviewed silent c.2619 p.G873 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Restriction endonuclease-like,HMMPfam_ERCC4,superfamily_RuvA domain 2-like" - no_errors FANCM 57697 broad.mit.edu 36 14 44727972 44727972 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 44727972 44727972 G T SNP FANCM NM_020937 human genbank 54_36p 1 reviewed missense c.4997 p.R1666I 1 NULL "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_ERCC4,superfamily_RuvA domain 2-like,superfamily_Restriction endonuclease-like,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MDGA2 161357 broad.mit.edu 36 14 46412452 46412452 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 46412452 46412452 G T SNP MDGA2 NM_182830 human genbank 54_36p -1 validated missense c.1792 p.P598T 1 "HMMSmart_MAM,HMMPfam_MAM" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_MAM,HMMPfam_MAM" - no_errors MDGA2 161357 broad.mit.edu 36 14 46458974 46458974 + Silent SNP G G T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 46458974 46458974 G T SNP MDGA2 NM_182830 human genbank 54_36p -1 validated silent c.1335 p.G445 0.95 superfamily_FN_III-like "HMMPfam_MAM,HMMSmart_MAM,HMMSmart_IGc2,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors POLE2 5427 broad.mit.edu 36 14 49210610 49210610 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 49210610 49210610 C T SNP POLE2 NM_002692 human genbank 54_36p -1 provisional missense c.398 p.R133Q 1 NULL HMMPfam_DNA_pol_E_B - no_errors KLHDC1 122773 broad.mit.edu 36 14 49265981 49265981 + Silent SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 49265981 49265981 C T SNP KLHDC1 NM_172193 human genbank 54_36p 1 provisional silent c.675 p.H225 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2" "HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2" - no_errors KLHDC2 23588 broad.mit.edu 36 14 49314664 49314664 + Silent SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 49314664 49314664 G A SNP KLHDC2 NM_014315 human genbank 54_36p 1 validated silent c.486 p.G162 0.94 superfamily_Galactose oxidase central domain "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMPfam_Kelch_1" - no_errors ARF6 382 broad.mit.edu 36 14 49430725 49430725 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 14 49430725 49430725 A G SNP ARF6 NM_001663 human genbank 54_36p 1 reviewed missense c.521 p.K174R 1 "HMMSmart_SM00178,HMMSmart_SM00177" "HMMPfam_Arf,HMMSmart_SM00178,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,PatternScan_ARF" - no_errors L2HGDH 79944 broad.mit.edu 36 14 49805729 49805729 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 14 49805729 49805729 T C SNP L2HGDH NM_024884 human genbank 54_36p -1 reviewed missense c.808 p.S270G 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO" - no_errors L2HGDH 79944 broad.mit.edu 36 14 49839442 49839442 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 49839442 49839442 C G SNP L2HGDH NM_024884 human genbank 54_36p -1 reviewed missense c.184 p.A62P 1 "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain" - no_errors NID2 22795 broad.mit.edu 36 14 51548066 51548066 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 51548066 51548066 G C SNP NID2 NM_007361 human genbank 54_36p -1 validated missense c.3506 p.A1169G 0.07 "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b" ############################################################################################################################################################################################################################################################### - no_errors GPR137C 283554 broad.mit.edu 36 14 52170020 52170020 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 52170020 52170020 G T SNP GPR137C NM_001099652 human genbank 54_36p 1 provisional missense c.890 p.G297V 1 NULL NULL - no_errors ERO1L 30001 broad.mit.edu 36 14 52189733 52189733 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 52189733 52189733 G A SNP ERO1L NM_014584 human genbank 54_36p -1 provisional nonsense c.859 p.R287* 1 "superfamily_ERO1,HMMPfam_ERO1" "superfamily_ERO1,HMMPfam_ERO1" - no_errors FERMT2 10979 broad.mit.edu 36 14 52396912 52396912 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 52396912 52396912 C A SNP FERMT2 NM_006832 human genbank 54_36p -1 validated missense c.1624 p.A542S 1 "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M" "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors DDHD1 80821 broad.mit.edu 36 14 52640269 52640269 + Silent SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 52640269 52640269 C T SNP DDHD1 NM_030637 human genbank 54_36p -1 provisional silent c.894 p.Q298 0.99 NULL HMMPfam_DDHD - no_errors CGRRF1 10668 broad.mit.edu 36 14 54059023 54059023 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 54059023 54059023 G C SNP CGRRF1 NM_006568 human genbank 54_36p 1 validated missense c.206 p.G69A 1 NULL "PatternScan_ZF_RING_1,superfamily_SSF57850,HMMSmart_RING" - no_errors CGRRF1 10668 broad.mit.edu 36 14 54074630 54074630 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 54074630 54074630 T C SNP CGRRF1 NM_006568 human genbank 54_36p 1 validated missense c.778 p.S260P 0.03 superfamily_SSF57850 "HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF57850" - no_errors WDHD1 11169 broad.mit.edu 36 14 54518072 54518072 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 54518072 54518072 G A SNP WDHD1 NM_007086 human genbank 54_36p -1 reviewed missense c.1999 p.H667Y 1 superfamily_WD40_like "superfamily_WD40_like,HMMPfam_WD40,HMMSmart_WD40,PatternScan_WD_REPEATS_1,superfamily_HMG-box,HMMSmart_HMG" - no_errors DLGAP5 9787 broad.mit.edu 36 14 54706022 54706022 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 54706022 54706022 G C SNP DLGAP5 NM_014750 human genbank 54_36p -1 provisional missense c.1396 p.L466V 1 HMMPfam_GKAP HMMPfam_GKAP - no_errors FBXO34 55030 broad.mit.edu 36 14 54887810 54887810 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 54887810 54887810 C A SNP FBXO34 NM_017943 human genbank 54_36p 1 validated missense c.949 p.L317I 1 NULL "superfamily_SSF81383,HMMSmart_FBOX,HMMPfam_F-box" - no_errors PELI2 57161 broad.mit.edu 36 14 55833216 55833216 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 55833216 55833216 G A SNP PELI2 NM_021255 human genbank 54_36p 1 validated missense c.842 p.R281Q 1 HMMPfam_Pellino HMMPfam_Pellino - no_errors EXOC5 10640 broad.mit.edu 36 14 56768034 56768034 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 56768034 56768034 A T SNP EXOC5 NM_006544 human genbank 54_36p -1 reviewed missense c.1091 p.I364N 1 HMMPfam_Sec10 HMMPfam_Sec10 - no_errors EXOC5 10640 broad.mit.edu 36 14 56780668 56780668 + Silent SNP A A G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 56780668 56780668 A G SNP EXOC5 NM_006544 human genbank 54_36p -1 reviewed silent c.433 p.L145 1 HMMPfam_Sec10 HMMPfam_Sec10 - no_errors MUDENG 55745 broad.mit.edu 36 14 56822720 56822720 + Silent SNP A A G novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 56822720 56822720 A G SNP MUDENG NM_018229 human genbank 54_36p 1 validated silent c.1320 p.T440 1 "superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,HMMPfam_Adap_comp_sub" "superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,HMMPfam_Adap_comp_sub" - no_errors NAA30 122830 broad.mit.edu 36 14 56927998 56927998 + Silent SNP C C A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 56927998 56927998 C A SNP NAT12 NM_001011713 human genbank 54_36p 1 validated silent c.570 p.S190 0.75 NULL "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_Acetyltransf_1" - no_errors NAA30 122830 broad.mit.edu 36 14 56927999 56927999 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 56927999 56927999 C T SNP NAT12 NM_001011713 human genbank 54_36p 1 validated silent c.571 p.L191 0.68 NULL "HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors SLC35F4 341880 broad.mit.edu 36 14 57117782 57117782 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 57117782 57117782 A T SNP SLC35F4 NM_001080455 human genbank 54_36p -1 inferred missense c.818 p.L273Q 1 "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6" "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6" - no_errors ARID4A 5926 broad.mit.edu 36 14 57901165 57901165 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 57901165 57901165 A G SNP ARID4A NM_002892 human genbank 54_36p 1 reviewed missense c.2605 p.I869V 0.07 NULL "HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,HMMSmart_SM00298" - no_errors KIAA0586 9786 broad.mit.edu 36 14 58008728 58008728 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 58008728 58008728 A G SNP KIAA0586 NM_014749 human genbank 54_36p 1 validated missense c.2384 p.D795G 1 NULL NULL - no_errors DACT1 51339 broad.mit.edu 36 14 58182236 58182236 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 58182236 58182236 C T SNP DACT1 NM_016651 human genbank 54_36p 1 validated missense c.1142 p.P381L 0.04 NULL NULL - no_errors DAAM1 23002 broad.mit.edu 36 14 58891744 58891744 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 58891744 58891744 C G SNP DAAM1 NM_014992 human genbank 54_36p 1 reviewed missense c.2495 p.A832G 1 "superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" - no_errors C14orf135 64430 broad.mit.edu 36 14 59651732 59651732 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 59651732 59651732 A G SNP C14orf135 NM_022495 human genbank 54_36p 1 validated missense c.455 p.N152S 0.02 NULL HMMPfam_Pecanex_C - no_errors C14orf135 64430 broad.mit.edu 36 14 59661565 59661565 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 59661565 59661565 G C SNP C14orf135 NM_022495 human genbank 54_36p 1 validated missense c.2221 p.V741L 0.99 NULL HMMPfam_Pecanex_C - no_errors SIX1 6495 broad.mit.edu 36 14 60182811 60182811 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 60182811 60182811 C A SNP SIX1 NM_005982 human genbank 54_36p -1 reviewed missense c.798 p.Q266H 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors SIX4 51804 broad.mit.edu 36 14 60256912 60256912 + Missense_Mutation SNP A A C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 60256912 60256912 A C SNP SIX4 NM_017420 human genbank 54_36p -1 validated missense c.868 p.S290A 1 superfamily_Homeodomain_like "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors MNAT1 4331 broad.mit.edu 36 14 60348548 60348548 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 60348548 60348548 C G SNP MNAT1 NM_002431 human genbank 54_36p 1 validated missense c.511 p.L171V 0.84 HMMPfam_MAT1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_MAT1" - no_errors KCNH5 27133 broad.mit.edu 36 14 62244875 62244875 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 62244875 62244875 G A SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed missense c.2071 p.R691W 0.02 NULL "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors KCNH5 27133 broad.mit.edu 36 14 62553362 62553362 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 62553362 62553362 C A SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed missense c.137 p.G46V 1 superfamily_PYP-like sensor domain (PAS domain) "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors GPHB5 122876 broad.mit.edu 36 14 62854276 62854276 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 62854276 62854276 A G SNP GPHB5 NM_145171 human genbank 54_36p -1 validated missense c.41 p.L14P 0.99 NULL NULL - no_errors SYNE2 23224 broad.mit.edu 36 14 63588192 63588192 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 63588192 63588192 T C SNP SYNE2 NM_182914 human genbank 54_36p 1 validated missense c.7808 p.L2603P 0.09 NULL "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH" - no_errors SYNE2 23224 broad.mit.edu 36 14 63612455 63612455 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 63612455 63612455 G C SNP SYNE2 NM_182914 human genbank 54_36p 1 validated missense c.10906 p.E3636Q 1 NULL "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors SYNE2 23224 broad.mit.edu 36 14 63674394 63674394 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 63674394 63674394 T G SNP SYNE2 NM_182914 human genbank 54_36p 1 validated missense c.14783 p.L4928R 0.05 "HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors SYNE2 23224 broad.mit.edu 36 14 63759661 63759661 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 63759661 63759661 A C SNP SYNE2 NM_182914 human genbank 54_36p 1 validated missense c.20192 p.Q6731P 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors ZBTB25 7597 broad.mit.edu 36 14 64024422 64024422 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 64024422 64024422 G A SNP ZBTB25 NM_006977 human genbank 54_36p -1 validated missense c.280 p.R94C 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZBTB25 7597 broad.mit.edu 36 14 64024495 64024495 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 64024495 64024495 T G SNP ZBTB25 NM_006977 human genbank 54_36p -1 validated missense c.207 p.Q69H 0.99 "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors HSPA2 3306 broad.mit.edu 36 14 64078539 64078539 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 64078539 64078539 G A SNP HSPA2 NM_021979 human genbank 54_36p 1 validated missense c.1219 p.E407K 1 "HMMPfam_HSP70,superfamily_SSF100920" "superfamily_SSF53067,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934" - no_errors SPTB 6710 broad.mit.edu 36 14 64329952 64329952 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 14 64329952 64329952 G C SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.2182 p.L728V 1 "HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors SPTB 6710 broad.mit.edu 36 14 64329966 64329966 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 64329966 64329966 G A SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.2168 p.A723V 0 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729" - no_errors SPTB 6710 broad.mit.edu 36 14 64330975 64330975 + Silent SNP G G C novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 64330975 64330975 G C SNP SPTB NM_001024858 human genbank 54_36p -1 validated silent c.1758 p.A586 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729" - no_errors SPTB 6710 broad.mit.edu 36 14 64333093 64333093 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 64333093 64333093 G T SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.1276 p.R426S 1 "HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729" - no_errors FNTB 2342 broad.mit.edu 36 14 64591083 64591083 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 64591083 64591083 G A SNP FNTB NM_002028 human genbank 54_36p 1 validated missense c.1105 p.G369S 1 "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Prenyltrans" "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Prenyltrans" - no_errors FUT8 2530 broad.mit.edu 36 14 65205925 65205925 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 65205925 65205925 C T SNP FUT8 NM_178154 human genbank 54_36p 1 reviewed missense c.809 p.S270F 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors FAM71D 161142 broad.mit.edu 36 14 66741163 66741163 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 66741163 66741163 C T SNP FAM71D NM_173526 human genbank 54_36p 1 validated silent c.516 p.S172 0.06 NULL NULL - no_errors EIF2S1 1965 broad.mit.edu 36 14 66901240 66901240 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 66901240 66901240 G T SNP EIF2S1 NM_004094 human genbank 54_36p 1 validated missense c.3 p.M1I 1 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_S1,HMMSmart_SM00316,HMMPfam_EIF_2_alpha,superfamily_eIF-2-alpha C-terminal domain" - no_errors PIGH 5283 broad.mit.edu 36 14 67130374 67130374 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67130374 67130374 G A SNP PIGH NM_004569 human genbank 54_36p -1 reviewed missense c.229 p.L77F 1 NULL HMMPfam_PIG-H - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67319340 67319340 + Silent SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 67319340 67319340 G T SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed silent c.4282 p.R1428 0.96 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67322609 67322609 + Silent SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67322609 67322609 A C SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed silent c.3114 p.L1038 0.01 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67330180 67330180 + Silent SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 14 67330180 67330180 C T SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed silent c.2451 p.L817 0 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67334190 67334190 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67334190 67334190 G A SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.2284 p.R762C 0.09 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67334698 67334698 + Silent SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67334698 67334698 A G SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed silent c.2034 p.F678 1 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67338572 67338572 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67338572 67338572 G A SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.1616 p.A539V 0.01 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67343890 67343890 + Silent SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67343890 67343890 C T SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed silent c.864 p.P288 0 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors ZFYVE26 23503 broad.mit.edu 36 14 67344228 67344228 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 67344228 67344228 G C SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.526 p.L176V 0.84 NULL "HMMPfam_FYVE,HMMSmart_SM00064,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger" - no_errors C14orf181 400223 broad.mit.edu 36 14 68332643 68332643 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 68332643 68332643 G C SNP C14orf181 NM_207442 human genbank 54_36p -1 validated missense c.122 p.P41R 0 NULL NULL - no_errors DCAF5 8816 broad.mit.edu 36 14 68590696 68590696 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 68590696 68590696 A T SNP WDR22 NM_003861 human genbank 54_36p -1 validated missense c.2460 p.S820R 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like" - no_errors GALNTL1 57452 broad.mit.edu 36 14 68878199 68878199 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 68878199 68878199 C T SNP GALNTL1 NM_020692 human genbank 54_36p 1 provisional silent c.1236 p.F412 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458" - no_errors KIAA0247 9766 broad.mit.edu 36 14 69241113 69241113 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 14 69241113 69241113 C A SNP KIAA0247 NM_014734 human genbank 54_36p 1 validated missense c.359 p.S120Y 1 NULL "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors SLC10A1 6554 broad.mit.edu 36 14 69314964 69314964 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 69314964 69314964 T G SNP SLC10A1 NM_003049 human genbank 54_36p -1 validated missense c.782 p.Q261P 1 NULL HMMPfam_SBF - no_errors SLC10A1 6554 broad.mit.edu 36 14 69333346 69333346 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 69333346 69333346 A C SNP SLC10A1 NM_003049 human genbank 54_36p -1 validated missense c.280 p.L94V 1 HMMPfam_SBF HMMPfam_SBF - no_errors SMOC1 64093 broad.mit.edu 36 14 69416213 69416213 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 69416213 69416213 C T SNP SMOC1 NM_001034852 human genbank 54_36p 1 validated missense c.65 p.S22F 0.38 NULL "superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors SLC8A3 6547 broad.mit.edu 36 14 69703480 69703480 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 69703480 69703480 G A SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed silent c.1413 p.D471 1 "HMMSmart_SM00237,HMMPfam_Calx-beta" "HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta" - no_errors MAP3K9 4293 broad.mit.edu 36 14 70345527 70345529 + In_Frame_Del DEL CCT - CCT novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D CCT CCT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 70345527 70345529 CCT - DEL MAP3K9 NM_033141 human genbank 54_36p -1 validated in_frame_del c.115_113 p.E38in_frame_del 0.064:0.105:0.155 NULL "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like,HMMSmart_TyrKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" "(deletion:cds_exon[70345236,70345641])" no_errors PCNX 22990 broad.mit.edu 36 14 70562597 70562597 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 14 70562597 70562597 G A SNP PCNX NM_014982 human genbank 54_36p 1 validated missense c.3194 p.R1065H 1 NULL HMMPfam_Pecanex_C - no_errors DCAF4 26094 broad.mit.edu 36 14 72490687 72490687 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 72490687 72490687 T A SNP WDR21A NM_015604 human genbank 54_36p 1 reviewed missense c.871 p.S291T 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors RBM25 58517 broad.mit.edu 36 14 72648087 72648087 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 72648087 72648087 G A SNP RBM25 NM_021239 human genbank 54_36p 1 validated missense c.2116 p.V706I 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI" - no_errors PAPLN 89932 broad.mit.edu 36 14 72789167 72789167 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 72789167 72789167 T A SNP PAPLN NM_173462 human genbank 54_36p 1 validated missense c.944 p.M315K 1 "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1" "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMSmart_KU,HMMPfam_Kunitz_BPTI,superfamily_Prot_inh_Kunz-m,PatternScan_BPTI_KUNITZ_1,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,HMMPfam_PLAC" - no_errors PAPLN 89932 broad.mit.edu 36 14 72800793 72800793 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 72800793 72800793 A G SNP PAPLN NM_173462 human genbank 54_36p 1 validated missense c.2902 p.I968V 1 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Kunitz_BPTI,HMMSmart_KU,PatternScan_BPTI_KUNITZ_1,superfamily_Prot_inh_Kunz-m,HMMSmart_IGc2,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors NUMB 8650 broad.mit.edu 36 14 72813185 72813185 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 72813185 72813185 T C SNP NUMB NM_001005743 human genbank 54_36p -1 reviewed missense c.1810 p.T604A 0 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,HMMPfam_NumbF" - no_errors C14orf169 79697 broad.mit.edu 36 14 73028361 73028361 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 73028361 73028361 T C SNP C14orf169 NM_024644 human genbank 54_36p 1 validated missense c.886 p.C296R 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PNMA1 9240 broad.mit.edu 36 14 73249158 73249158 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 73249158 73249158 G T SNP PNMA1 NM_006029 human genbank 54_36p -1 validated missense c.938 p.A313D 0.35 NULL NULL - no_errors C14orf43 91748 broad.mit.edu 36 14 73275501 73275501 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 73275501 73275501 G A SNP C14orf43 NM_001043318 human genbank 54_36p -1 validated missense c.964 p.R322C 1 NULL "HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors C14orf43 91748 broad.mit.edu 36 14 73276041 73276041 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 73276041 73276041 A C SNP C14orf43 NM_001043318 human genbank 54_36p -1 validated missense c.424 p.Y142D 0.2 NULL "HMMPfam_ELM2,HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding" - no_errors FAM161B 145483 broad.mit.edu 36 14 73481016 73481016 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 73481016 73481016 T C SNP FAM161B NM_152445 human genbank 54_36p -1 predicted missense c.700 p.M234V 0.92 HMMPfam_UPF0564 HMMPfam_UPF0564 - no_errors ALDH6A1 4329 broad.mit.edu 36 14 73597102 73597102 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 73597102 73597102 C T SNP ALDH6A1 NM_005589 human genbank 54_36p -1 reviewed missense c.1604 p.R535H 1 NULL "superfamily_ALDH-like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors VRTN 55237 broad.mit.edu 36 14 73893552 73893552 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 73893552 73893552 C T SNP C14orf115 NM_018228 human genbank 54_36p 1 validated missense c.313 p.R105W 1 NULL HMMPfam_Transposase_8 - no_errors VRTN 55237 broad.mit.edu 36 14 73893578 73893578 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 73893578 73893578 G A SNP C14orf115 NM_018228 human genbank 54_36p 1 validated silent c.339 p.L113 1 NULL HMMPfam_Transposase_8 - no_errors VRTN 55237 broad.mit.edu 36 14 73894675 73894675 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 73894675 73894675 C T SNP C14orf115 NM_018228 human genbank 54_36p 1 validated missense c.1436 p.A479V 0 NULL HMMPfam_Transposase_8 - no_errors VRTN 55237 broad.mit.edu 36 14 73894783 73894783 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Sequenom Illumina GAIIx 14 73894783 73894783 C T SNP C14orf115 NM_018228 human genbank 54_36p 1 validated missense c.1544 p.A515V 0.5 NULL HMMPfam_Transposase_8 - no_errors YLPM1 56252 broad.mit.edu 36 14 74300206 74300206 + Silent SNP G G C novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 74300206 74300206 G C SNP YLPM1 NM_019589 human genbank 54_36p 1 validated silent c.261 p.P87 1 NULL "HMMPfam_YLP,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors YLPM1 56252 broad.mit.edu 36 14 74334890 74334890 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 74334890 74334890 G A SNP YLPM1 NM_019589 human genbank 54_36p 1 validated missense c.3137 p.S1046N 0 NULL "HMMPfam_YLP,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors YLPM1 56252 broad.mit.edu 36 14 74334998 74335001 + Frame_Shift_Del DEL GGTT - GGTT novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 GGTT GGTT - - GGTT GGTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 74334998 74335001 GGTT - DEL YLPM1 NM_019589 human genbank 54_36p 1 validated frame_shift_del c.3245_3248 p.L1083fs 0.661:0.264:0.040:0.037 NULL "HMMPfam_YLP,superfamily_P-loop containing nucleoside triphosphate hydrolases" "(deletion:cds_exon[74334036,74336153])" no_errors PROX2 283571 broad.mit.edu 36 14 74399290 74399290 + Nonsense_Mutation SNP A A T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 74399290 74399290 A T SNP PROX2 NM_001080408 human genbank 54_36p -1 provisional nonsense c.1001 p.L334* 0.94 NULL "HMMPfam_Prox1,superfamily_Homeodomain-like" - no_errors DLST 1743 broad.mit.edu 36 14 74437622 74437622 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 74437622 74437622 A G SNP DLST NM_001933 human genbank 54_36p 1 validated missense c.1160 p.N387S 1 "HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases" "superfamily_Single hybrid motif,HMMPfam_Biotin_lipoyl,PatternScan_LIPOYL,HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases" - no_errors EIF2B2 8892 broad.mit.edu 36 14 74545605 74545605 + Silent SNP G G A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 74545605 74545605 G A SNP EIF2B2 NM_014239 human genbank 54_36p 1 validated silent c.1017 p.L339 1 superfamily_NagB/RpiA/CoA transferase-like "HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like" - no_errors MLH3 27030 broad.mit.edu 36 14 74584640 74584640 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 74584640 74584640 A G SNP MLH3 NM_001040108 human genbank 54_36p -1 reviewed missense c.1472 p.F491S 0 NULL "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_DNA_mis_repair,HMMPfam_MutL_C" - no_errors MLH3 27030 broad.mit.edu 36 14 74585341 74585341 + Silent SNP T T C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 74585341 74585341 T C SNP MLH3 NM_001040108 human genbank 54_36p -1 reviewed silent c.771 p.R257 1 "HMMPfam_DNA_mis_repair,superfamily_Ribosomal protein S5 domain 2-like" "HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_DNA_mis_repair,PatternScan_DNA_MISMATCH_REPAIR_1,HMMPfam_MutL_C,superfamily_Ribosomal protein S5 domain 2-like" - no_errors FAM164C 79696 broad.mit.edu 36 14 74607132 74607132 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 74607132 74607132 T A SNP FAM164C NM_024643 human genbank 54_36p 1 validated missense c.103 p.Y35N 0.72 NULL NULL - no_errors TTLL5 23093 broad.mit.edu 36 14 75281651 75281651 + Silent SNP T T A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 75281651 75281651 T A SNP TTLL5 NM_015072 human genbank 54_36p 1 validated silent c.1461 p.P487 1 NULL "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors C14orf118 55668 broad.mit.edu 36 14 75714093 75714093 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 75714093 75714093 A T SNP C14orf118 NM_017926 human genbank 54_36p 1 validated missense c.1062 p.K354N 1 NULL NULL - no_errors ANGEL1 23357 broad.mit.edu 36 14 76345445 76345445 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 76345445 76345445 G A SNP ANGEL1 NM_015305 human genbank 54_36p -1 validated missense c.359 p.A120V 0.01 NULL "HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos" - no_errors TMEM63C 57156 broad.mit.edu 36 14 76785535 76785535 + Missense_Mutation SNP C C G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 76785535 76785535 C G SNP TMEM63C NM_020431 human genbank 54_36p 1 validated missense c.2019 p.F673L 1 HMMPfam_DUF221 HMMPfam_DUF221 - no_errors POMT2 29954 broad.mit.edu 36 14 76832350 76832350 + Silent SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 76832350 76832350 C A SNP POMT2 NM_013382 human genbank 54_36p -1 reviewed silent c.1026 p.V342 1 "superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472" "HMMPfam_PMT,PatternScan_SERPIN,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR" - no_errors SPTLC2 9517 broad.mit.edu 36 14 77057633 77057633 + Silent SNP T T G novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 77057633 77057633 T G SNP SPTLC2 NM_004863 human genbank 54_36p -1 validated silent c.1348 p.R450 1 "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_1_2" "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_2" - no_errors ALKBH1 8846 broad.mit.edu 36 14 77230865 77230865 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 77230865 77230865 C T SNP ALKBH1 NM_006020 human genbank 54_36p -1 reviewed missense c.424 p.D142N 0.03 NULL NULL - no_errors NRXN3 9369 broad.mit.edu 36 14 79199991 79199991 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 79199991 79199991 G A SNP NRXN3 NM_004796 human genbank 54_36p 1 reviewed missense c.2443 p.G815S 1 "superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2" "superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,HMMSmart_LamG,HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_4.1m" - no_errors C14orf145 145508 broad.mit.edu 36 14 80367273 80367273 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 80367273 80367273 G T SNP C14orf145 NM_152446 human genbank 54_36p -1 validated missense c.1176 p.D392E 1 NULL NULL - no_errors KCNK10 54207 broad.mit.edu 36 14 87721965 87721965 + Silent SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 87721965 87721965 C T SNP KCNK10 NM_138317 human genbank 54_36p -1 reviewed silent c.1299 p.P433 0.89 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" - no_errors PTPN21 11099 broad.mit.edu 36 14 88006112 88006112 + Silent SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 14 88006112 88006112 G C SNP PTPN21 NM_007039 human genbank 54_36p -1 reviewed silent c.2907 p.A969 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPN21 11099 broad.mit.edu 36 14 88016272 88016272 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 88016272 88016272 G T SNP PTPN21 NM_007039 human genbank 54_36p -1 reviewed missense c.1256 p.P419H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ZC3H14 79882 broad.mit.edu 36 14 88104225 88104225 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 88104225 88104225 A T SNP ZC3H14 NM_024824 human genbank 54_36p 1 validated missense c.169 p.N57Y 1 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors ZC3H14 79882 broad.mit.edu 36 14 88109076 88109076 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 88109076 88109076 G C SNP ZC3H14 NM_024824 human genbank 54_36p 1 validated missense c.833 p.R278T 0.99 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors EML5 161436 broad.mit.edu 36 14 88199128 88199128 + Silent SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 88199128 88199128 C T SNP EML5 NM_183387 human genbank 54_36p -1 validated silent c.3498 p.E1166 1 superfamily_WD40 repeat-like "HMMPfam_HELP,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors TDP1 55775 broad.mit.edu 36 14 89525057 89525063 + Frame_Shift_Del DEL GTCAGTT - GTCAGTT novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 GTCAGTT GTCAGTT - - GTCAGTT GTCAGTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 89525057 89525063 GTCAGTT - DEL TDP1 NM_001008744 human genbank 54_36p 1 reviewed frame_shift_del c.1187_1193 p.G396fs 1.000:0.991:1.000:1.000:1.000:1.000:1.000 "HMMPfam_Tyr-DNA_phospho,superfamily_SSF56024" "superfamily_SSF56024,HMMPfam_Tyr-DNA_phospho" "(deletion:cds_exon[89525002,89525187])" no_errors C14orf102 55051 broad.mit.edu 36 14 89825232 89825232 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 89825232 89825232 C T SNP C14orf102 NM_017970 human genbank 54_36p -1 validated missense c.2240 p.C747Y 1 superfamily_Prenyl_trans "superfamily_Prenyl_trans,HMMPfam_DUF1740" - no_errors C14orf102 55051 broad.mit.edu 36 14 89838915 89838915 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 89838915 89838915 T G SNP C14orf102 NM_017970 human genbank 54_36p -1 validated missense c.1313 p.H438P 1 "HMMPfam_DUF1740,superfamily_Prenyl_trans" "HMMPfam_DUF1740,superfamily_Prenyl_trans" - no_errors TTC7B 145567 broad.mit.edu 36 14 90154079 90154079 + Silent SNP A A T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 90154079 90154079 A T SNP TTC7B NM_001010854 human genbank 54_36p -1 provisional silent c.1815 p.T605 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors C14orf159 80017 broad.mit.edu 36 14 90760915 90760915 + Silent SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 90760915 90760915 C T SNP C14orf159 NM_001102368 human genbank 54_36p 1 validated silent c.1851 p.T617 0.01 NULL HMMPfam_DUF1445 - no_errors CCDC88C 440193 broad.mit.edu 36 14 90815397 90815397 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 90815397 90815397 C T SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.4706 p.R1569Q 1 NULL superfamily_Prefoldin - no_errors CCDC88C 440193 broad.mit.edu 36 14 90825370 90825370 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 90825370 90825370 G A SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.4273 p.R1425C 0.93 NULL superfamily_Prefoldin - no_errors CCDC88C 440193 broad.mit.edu 36 14 90827168 90827169 + Missense_Mutation DNP CA CA AC novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 90827168 90827169 CA AC DNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.4126_4125 p.NA1375KS 1.000:1.000 NULL superfamily_Prefoldin - no_errors CCDC88C 440193 broad.mit.edu 36 14 90846027 90846028 + Missense_Mutation DNP CA CA TG novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 90846027 90846028 CA TG DNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.2793_2792 p.L931P 1.000:1.000 NULL superfamily_Prefoldin - no_errors CATSPERB 79820 broad.mit.edu 36 14 91172645 91172645 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 91172645 91172645 G C SNP CATSPERB NM_024764 human genbank 54_36p -1 validated missense c.1619 p.A540G 0.27 NULL NULL - no_errors TRIP11 9321 broad.mit.edu 36 14 91508929 91508929 + Silent SNP T T A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 91508929 91508929 T A SNP TRIP11 NM_004239 human genbank 54_36p -1 validated silent c.5604 p.L1868 0.95 NULL NULL - no_errors TRIP11 9321 broad.mit.edu 36 14 91540959 91540959 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 91540959 91540959 C A SNP TRIP11 NM_004239 human genbank 54_36p -1 validated missense c.3114 p.K1038N 1 NULL NULL - no_errors TRIP11 9321 broad.mit.edu 36 14 91542457 91542457 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 14 91542457 91542457 T G SNP TRIP11 NM_004239 human genbank 54_36p -1 validated missense c.1616 p.E539A 1 NULL NULL - no_errors TRIP11 9321 broad.mit.edu 36 14 91550328 91550328 + Silent SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 14 91550328 91550328 T C SNP TRIP11 NM_004239 human genbank 54_36p -1 validated silent c.1170 p.L390 0.2 NULL NULL - no_errors CPSF2 53981 broad.mit.edu 36 14 91691307 91691307 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 91691307 91691307 G T SNP CPSF2 NM_017437 human genbank 54_36p 1 validated missense c.1329 p.M443I 1 NULL "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL" - no_errors GOLGA5 9950 broad.mit.edu 36 14 92352454 92352454 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 92352454 92352454 G C SNP GOLGA5 NM_005113 human genbank 54_36p 1 reviewed missense c.1426 p.E476Q 1 "HMMPfam_Golgin_A5,superfamily_Prefoldin" "HMMPfam_Golgin_A5,superfamily_Prefoldin" - no_errors GOLGA5 9950 broad.mit.edu 36 14 92352502 92352502 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 92352502 92352502 C T SNP GOLGA5 NM_005113 human genbank 54_36p 1 reviewed missense c.1474 p.L492F 1 "superfamily_Prefoldin,HMMPfam_Golgin_A5" "superfamily_Prefoldin,HMMPfam_Golgin_A5" - no_errors ITPK1 3705 broad.mit.edu 36 14 92494301 92494301 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 14 92494301 92494301 G A SNP ITPK1 NM_014216 human genbank 54_36p -1 validated missense c.668 p.S223L 1 "HMMPfam_Ins134_P3_kin,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_Ins134_P3_kin,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors MOAP1 64112 broad.mit.edu 36 14 92720042 92720042 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 92720042 92720042 T C SNP MOAP1 NM_022151 human genbank 54_36p -1 reviewed missense c.299 p.N100S 0 NULL NULL - no_errors BTBD7 55727 broad.mit.edu 36 14 92778882 92778882 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 92778882 92778882 G A SNP BTBD7 NM_001002860 human genbank 54_36p -1 validated silent c.2889 p.R963 0.97 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK" - no_errors KIAA1409 57578 broad.mit.edu 36 14 93116303 93116353 + In_Frame_Del DEL ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC - ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC - - ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 93116303 93116353 ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC - DEL KIAA1409 NM_020818 human genbank 54_36p 1 validated in_frame_del c.1958_2008 p.IISIINNVFQAPWGGSH654in_frame_del ############################################################################################################################################################################################################################################################### NULL NULL "(deletion:cds_exon[93116248,93116475])" no_errors KIAA1409 57578 broad.mit.edu 36 14 93148948 93148948 + Silent SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 93148948 93148948 C T SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated silent c.3276 p.D1092 1 NULL NULL - no_errors KIAA1409 57578 broad.mit.edu 36 14 93173385 93173385 + Silent SNP A A G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 14 93173385 93173385 A G SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated silent c.5373 p.P1791 0.93 NULL NULL - no_errors KIAA1409 57578 broad.mit.edu 36 14 93179705 93179705 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 93179705 93179705 G C SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.5539 p.G1847R 0.97 NULL NULL - no_errors ASB2 51676 broad.mit.edu 36 14 93487194 93487194 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 93487194 93487194 C T SNP ASB2 NM_016150 human genbank 54_36p -1 reviewed missense c.640 p.A214T 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank,PatternScan_ODR_DC_2_1,PatternScan_C_TYPE_LECTIN_1,HMMSmart_SM00253,HMMPfam_SOCS_box" - no_errors DDX24 57062 broad.mit.edu 36 14 93591272 93591272 + Silent SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 93591272 93591272 G A SNP DDX24 NM_020414 human genbank 54_36p -1 reviewed silent c.2001 p.T667 0.84 "superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors SERPINA10 51156 broad.mit.edu 36 14 93826141 93826141 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 93826141 93826141 T G SNP SERPINA10 NM_001100607 human genbank 54_36p -1 validated missense c.543 p.L181F 0 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "PatternScan_SERPIN,superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" - no_errors SERPINA9 327657 broad.mit.edu 36 14 93999249 93999249 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 93999249 93999249 C A SNP SERPINA9 NM_175739 human genbank 54_36p -1 validated missense c.1242 p.M414I 0 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SERPINA4 5267 broad.mit.edu 36 14 94099875 94099875 + Silent SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 94099875 94099875 C A SNP SERPINA4 NM_006215 human genbank 54_36p 1 provisional silent c.303 p.I101 0.71 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors SERPINA5 5104 broad.mit.edu 36 14 94123603 94123603 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 94123603 94123603 G C SNP SERPINA5 NM_000624 human genbank 54_36p 1 validated missense c.151 p.D51H 0.43 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SERPINA3 12 broad.mit.edu 36 14 94155545 94155545 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 94155545 94155545 T C SNP SERPINA3 NM_001085 human genbank 54_36p 1 reviewed missense c.904 p.S302P 0 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SERPINA3 12 broad.mit.edu 36 14 94159877 94159877 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 94159877 94159877 C G SNP SERPINA3 NM_001085 human genbank 54_36p 1 reviewed missense c.1245 p.S415R 0.9 "HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins" "HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins" - no_errors BDKRB2 624 broad.mit.edu 36 14 95777005 95777005 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 95777005 95777005 G A SNP BDKRB2 NM_000623 human genbank 54_36p 1 reviewed missense c.587 p.R196Q 0.9 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors BDKRB1 623 broad.mit.edu 36 14 95799918 95799918 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 95799918 95799918 T C SNP BDKRB1 NM_000710 human genbank 54_36p 1 reviewed missense c.146 p.F49S 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors BDKRB1 623 broad.mit.edu 36 14 95800367 95800367 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 95800367 95800367 C A SNP BDKRB1 NM_000710 human genbank 54_36p 1 reviewed missense c.595 p.H199N 0.18 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors BDKRB1 623 broad.mit.edu 36 14 95800521 95800521 + Missense_Mutation SNP C C T rs2229459 by-hapmap TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 95800521 95800521 C T SNP BDKRB1 NM_000710 human genbank 54_36p 1 reviewed missense c.749 p.A250V 0 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors ATG2B 55102 broad.mit.edu 36 14 95858346 95858347 + Splice_Site INS - AA - novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 - - AA AA - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 95858346 95858347 - AA INS ATG2B NM_018036 human genbank 54_36p -1 validated splice_site_ins c.2737-3_2737-2 e18-2 0.995:0.579 - - - no_errors EVL 51466 broad.mit.edu 36 14 99664688 99664688 + Silent SNP A A C novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 99664688 99664688 A C SNP EVL NM_016337 human genbank 54_36p 1 validated silent c.567 p.P189 0.71 NULL "HMMPfam_WH1,HMMSmart_WH1,HMMPfam_VASP_tetra,superfamily_SSF50729" - no_errors EVL 51466 broad.mit.edu 36 14 99664688 99664688 + Silent SNP A A C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 99664688 99664688 A C SNP EVL NM_016337 human genbank 54_36p 1 validated silent c.567 p.P189 0.71 NULL "superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_VASP_tetra" - no_errors EVL 51466 broad.mit.edu 36 14 99673694 99673694 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 99673694 99673694 A T SNP EVL NM_016337 human genbank 54_36p 1 validated missense c.991 p.S331C 1 NULL "HMMPfam_WH1,HMMSmart_WH1,HMMPfam_VASP_tetra,superfamily_SSF50729" - no_errors SLC25A29 123096 broad.mit.edu 36 14 99829383 99829383 + Splice_Site SNP C C A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 99829383 99829383 C A SNP SLC25A29 NM_001039355 human genbank 54_36p -1 validated splice_site c.162+1 e3+1 1 - - - no_errors WARS 7453 broad.mit.edu 36 14 99873122 99873169 + Splice_Site DEL GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG - GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 99873122 99873169 GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG - DEL WARS NM_004184 human genbank 54_36p -1 reviewed splice_site_del c.1254+19_1254+1 e10-1 ############################################################################################################################################################################################################################################################### - - "(deletion:intron[99871127,99873151], cds_exon[99873152,99873292])" no_errors DLK1 8788 broad.mit.edu 36 14 100270317 100270317 + Silent SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 100270317 100270317 C T SNP DLK1 NM_003836 human genbank 54_36p 1 validated silent c.483 p.G161 1 "HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2" "HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_ASX_HYDROXYL" - no_errors DLK1 8788 broad.mit.edu 36 14 100270974 100270974 + Silent SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 100270974 100270974 C T SNP DLK1 NM_003836 human genbank 54_36p 1 validated silent c.1140 p.D380 0 NULL "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin" - no_errors DIO3 1735 broad.mit.edu 36 14 101097957 101097957 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 101097957 101097957 A T SNP DIO3 NM_001362 human genbank 54_36p 1 reviewed missense c.293 p.D98V 1 HMMPfam_T4_deiodinase HMMPfam_T4_deiodinase - pseudogene DIO3 1735 broad.mit.edu 36 14 101098050 101098050 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101098050 101098050 C T SNP DIO3 NM_001362 human genbank 54_36p 1 reviewed missense c.386 p.A129V 0.08 HMMPfam_T4_deiodinase HMMPfam_T4_deiodinase - pseudogene DIO3 1735 broad.mit.edu 36 14 101098382 101098382 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 101098382 101098382 A G SNP DIO3 NM_001362 human genbank 54_36p 1 reviewed missense c.718 p.S240G 0.98 HMMPfam_T4_deiodinase HMMPfam_T4_deiodinase - pseudogene DYNC1H1 1778 broad.mit.edu 36 14 101515924 101515924 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101515924 101515924 A G SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed missense c.634 p.M212V 0.07 NULL "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101531342 101531342 + Silent SNP T T C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101531342 101531342 T C SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed silent c.3516 p.Y1172 0.99 NULL "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540" - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101544407 101544407 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 101544407 101544407 C G SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed missense c.5957 p.S1986C 1 "HMMSmart_AAA,superfamily_SSF52540" "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540" - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101558972 101558972 + Splice_Site SNP T T A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101558972 101558972 T A SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed splice_site c.8637+2 e43+2 0.99 - - - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101562692 101562692 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101562692 101562692 T A SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed nonsense c.8666 p.L2889* 1 superfamily_SSF52540 "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540" - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101574586 101574586 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101574586 101574586 C G SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed missense c.10945 p.L3649V 1 NULL "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540" - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101575562 101575562 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101575562 101575562 T C SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed missense c.11521 p.Y3841H 1 NULL "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540" - no_errors DYNC1H1 1778 broad.mit.edu 36 14 101586624 101586624 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101586624 101586624 C T SNP DYNC1H1 NM_001376 human genbank 54_36p 1 reviewed missense c.13912 p.R4638W 1 HMMPfam_Dynein_heavy "HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540" - no_errors HSP90AA1 3320 broad.mit.edu 36 14 101621436 101621436 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101621436 101621436 C G SNP HSP90AA1 NM_001017963 human genbank 54_36p -1 validated missense c.981 p.E327D 1 "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HSP90" ############################################################################################################################################################################################################################################################### - no_errors ZNF839 55778 broad.mit.edu 36 14 101875210 101875210 + Silent SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 101875210 101875210 G A SNP ZNF839 NM_018335 human genbank 54_36p 1 validated silent c.1824 p.V608 0.02 NULL PatternScan_ABC_TRANSPORTER_1 - no_errors RCOR1 23186 broad.mit.edu 36 14 102237370 102237370 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 102237370 102237370 G C SNP RCOR1 NM_015156 human genbank 54_36p 1 validated missense c.439 p.D147H 1 HMMPfam_ELM2 "HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors CDC42BPB 9578 broad.mit.edu 36 14 102481752 102481752 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 102481752 102481752 C G SNP CDC42BPB NM_006035 human genbank 54_36p -1 reviewed missense c.3811 p.V1271L 1 "HMMPfam_CNH,HMMSmart_CNH" ############################################################################################################################################################################################################################################################### - no_errors C14orf73 91828 broad.mit.edu 36 14 102644578 102644578 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 102644578 102644578 G C SNP C14orf73 NM_001077594 human genbank 54_36p 1 validated missense c.1947 p.E649D 0.89 HMMPfam_Sec6 HMMPfam_Sec6 - no_errors BAG5 9529 broad.mit.edu 36 14 103097175 103097175 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 103097175 103097175 A C SNP BAG5 NM_001015049 human genbank 54_36p -1 reviewed missense c.203 p.V68G 0.99 "HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain" "HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain" - no_errors XRCC3 7517 broad.mit.edu 36 14 103247142 103247142 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 103247142 103247142 A C SNP XRCC3 NM_001100118 human genbank 54_36p -1 reviewed missense c.36 p.I12M 0.88 NULL "HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PPP1R13B 23368 broad.mit.edu 36 14 103289126 103289126 + Silent SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 103289126 103289126 C T SNP PPP1R13B NM_015316 human genbank 54_36p -1 reviewed silent c.792 p.A264 0.3 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors TDRD9 122402 broad.mit.edu 36 14 103527287 103527287 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 103527287 103527287 C T SNP TDRD9 NM_153046 human genbank 54_36p 1 validated nonsense c.298 p.R100* 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" - no_errors ADSSL1 122622 broad.mit.edu 36 14 104278509 104278509 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104278509 104278509 A G SNP ADSSL1 NM_199165 human genbank 54_36p 1 validated missense c.806 p.E269G 1 "HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540" "HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540,PatternScan_ADENYLOSUCCIN_SYN_2" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104479038 104479038 + Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104479038 104479038 G T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.13795 p.Q4599K 0.05 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104479745 104479745 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104479745 104479745 T A SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.13088 p.D4363V 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104480969 104480969 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104480969 104480969 G A SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.11864 p.S3955F 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104483452 104483452 + Silent SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104483452 104483452 C A SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.9381 p.G3127 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104483894 104483894 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104483894 104483894 A C SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.8939 p.M2980R 1 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104485644 104485680 + Frame_Shift_Del DEL GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT - GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 14 104485644 104485680 GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT - DEL AHNAK2 NM_138420 human genbank 54_36p -1 validated frame_shift_del c.7189_7153 p.K2385fs 0.001:0.000:0.000:0.000:0.000:0.001:0.011:0.013:0.025:0.000:0.000:0.005:0.008:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.012:0.014:0.021:0.017:0.002:0.069:0.067:0.013:0.021:0.000:0.000:0.000:0.001 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin" "(deletion:cds_exon[104475445,104492181])" no_errors AHNAK2 113146 broad.mit.edu 36 14 104486219 104486219 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104486219 104486219 G T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.6614 p.P2205H 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104487289 104487289 + Silent SNP C C G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104487289 104487289 C G SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.5544 p.V1848 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104489803 104489803 + Silent SNP T T C novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104489803 104489803 T C SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.3030 p.V1010 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 broad.mit.edu 36 14 104491545 104491545 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 14 104491545 104491545 C G SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.1288 p.E430Q 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors GPR132 29933 broad.mit.edu 36 14 104589067 104589067 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104589067 104589067 C T SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed missense c.452 p.R151Q 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors BRF1 2972 broad.mit.edu 36 14 104756594 104756594 + Silent SNP T T C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104756594 104756594 T C SNP BRF1 NM_001519 human genbank 54_36p -1 reviewed silent c.1398 p.E466 1 HMMPfam_BRF1 "HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,HMMPfam_BRF1" - no_errors PACS2 23241 broad.mit.edu 36 14 104885875 104885875 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104885875 104885875 G T SNP PACS2 NM_001100913 human genbank 54_36p 1 validated missense c.120 p.R40S 1 NULL HMMPfam_Pacs-1 - no_errors PACS2 23241 broad.mit.edu 36 14 104920815 104920815 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 14 104920815 104920815 T C SNP PACS2 NM_001100913 human genbank 54_36p 1 validated missense c.1700 p.I567T 0.95 HMMPfam_Pacs-1 HMMPfam_Pacs-1 - no_errors POTEB 339010 broad.mit.edu 36 15 19336052 19336052 + Silent SNP A A T rs28566570 Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 19336052 19336052 A T SNP POTEB NM_207355 human genbank 54_36p -1 validated silent c.249 p.S83 0.03 NULL "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors OR4N4 283694 broad.mit.edu 36 15 19883887 19883887 + Silent SNP G G C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 19883887 19883887 G C SNP OR4N4 NM_001005241 human genbank 54_36p 1 provisional silent c.51 p.L17 0.01 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4N4 283694 broad.mit.edu 36 15 19883929 19883929 + Silent SNP C C A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 19883929 19883929 C A SNP OR4N4 NM_001005241 human genbank 54_36p 1 provisional silent c.93 p.I31 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors MKRN3 7681 broad.mit.edu 36 15 21362248 21362248 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 15 21362248 21362248 C T SNP MKRN3 NM_005664 human genbank 54_36p 1 reviewed missense c.226 p.P76S 0 NULL "HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors NDN 4692 broad.mit.edu 36 15 21483337 21483337 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 21483337 21483337 G A SNP NDN NM_002487 human genbank 54_36p -1 reviewed missense c.121 p.P41S 0.02 NULL HMMPfam_MAGE - no_errors C15orf2 23742 broad.mit.edu 36 15 22472345 22472345 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 22472345 22472345 G A SNP C15orf2 NM_018958 human genbank 54_36p 1 validated missense c.238 p.A80T 0 NULL NULL - no_errors C15orf2 23742 broad.mit.edu 36 15 22472428 22472428 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 22472428 22472428 G T SNP C15orf2 NM_018958 human genbank 54_36p 1 validated missense c.321 p.R107S 0 NULL NULL - no_errors C15orf2 23742 broad.mit.edu 36 15 22472629 22472629 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 22472629 22472629 C T SNP C15orf2 NM_018958 human genbank 54_36p 1 validated silent c.522 p.D174 0 NULL NULL - no_errors C15orf2 23742 broad.mit.edu 36 15 22473975 22473975 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 22473975 22473975 C A SNP C15orf2 NM_018958 human genbank 54_36p 1 validated missense c.1868 p.P623Q 0 NULL NULL - no_errors C15orf2 23742 broad.mit.edu 36 15 22475358 22475358 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 22475358 22475358 C T SNP C15orf2 NM_018958 human genbank 54_36p 1 validated missense c.3251 p.A1084V 0 NULL NULL - no_errors ATP10A 57194 broad.mit.edu 36 15 23477097 23477097 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 23477097 23477097 C A SNP ATP10A NM_024490 human genbank 54_36p -1 reviewed missense c.3631 p.A1211S 0.95 NULL "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3" - no_errors GABRB3 2562 broad.mit.edu 36 15 24344296 24344296 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 24344296 24344296 C T SNP GABRB3 NM_000814 human genbank 54_36p -1 reviewed missense c.1159 p.D387N 0.75 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors OCA2 4948 broad.mit.edu 36 15 25902144 25902144 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 25902144 25902144 G C SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed missense c.1445 p.T482S 1 HMMPfam_CitMHS HMMPfam_CitMHS - no_errors OCA2 4948 broad.mit.edu 36 15 25934898 25934898 + Silent SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 25934898 25934898 A G SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed silent c.837 p.N279 1 NULL HMMPfam_CitMHS - no_errors HERC2 8924 broad.mit.edu 36 15 26081966 26081966 + Missense_Mutation SNP T T A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 26081966 26081966 T A SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.10615 p.S3539C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 broad.mit.edu 36 15 26132622 26132622 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 15 26132622 26132622 C T SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.6647 p.R2216H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 broad.mit.edu 36 15 26148035 26148035 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 26148035 26148035 G A SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.5173 p.R1725W 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 broad.mit.edu 36 15 26152448 26152448 + Silent SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 26152448 26152448 G A SNP HERC2 NM_004667 human genbank 54_36p -1 validated silent c.4308 p.V1436 0.97 NULL ############################################################################################################################################################################################################################################################### - no_errors TJP1 7082 broad.mit.edu 36 15 27781168 27781168 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 27781168 27781168 G C SNP TJP1 NM_003257 human genbank 54_36p -1 validated missense c.5170 p.Q1724E 1 "HMMPfam_ZU5,HMMSmart_SM00218" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C,HMMPfam_ZU5,HMMSmart_SM00218" - no_errors TJP1 7082 broad.mit.edu 36 15 27798088 27798104 + Frame_Shift_Del DEL TGGGCCCTGCTGAAGGG - TGGGCCCTGCTGAAGGG novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W TGGGCCCTGCTGAAGGG TGGGCCCTGCTGAAGGG - - TGGGCCCTGCTGAAGGG TGGGCCCTGCTGAAGGG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 15 27798088 27798104 TGGGCCCTGCTGAAGGG - DEL TJP1 NM_003257 human genbank 54_36p -1 validated frame_shift_del c.3550_3534 p.H1178fs 0.213:0.126:0.223:0.184:0.005:0.007:0.001:0.000:0.000:0.000:0.000:0.008:0.004:0.006:0.103:0.086:0.089 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C,HMMPfam_ZU5,HMMSmart_SM00218" "(deletion:cds_exon[27797762,27798634])" no_errors TJP1 7082 broad.mit.edu 36 15 27812622 27812622 + Silent SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 27812622 27812622 C T SNP TJP1 NM_003257 human genbank 54_36p -1 validated silent c.1704 p.E568 0.99 "superfamily_SH3-domain,HMMPfam_SH3_2" "HMMPfam_ZU5,HMMSmart_SM00218,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,HMMPfam_SH3_2,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MTMR10 54893 broad.mit.edu 36 15 29038406 29038406 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 29038406 29038406 C T SNP MTMR10 NM_017762 human genbank 54_36p -1 validated missense c.887 p.R296Q 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related" "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related" - no_errors MTMR10 54893 broad.mit.edu 36 15 29070994 29070994 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 29070994 29070994 G A SNP MTMR10 NM_017762 human genbank 54_36p -1 validated missense c.8 p.S3F 0.94 NULL "HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors TRPM1 4308 broad.mit.edu 36 15 29105687 29105687 + Silent SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 29105687 29105687 C T SNP TRPM1 NM_002420 human genbank 54_36p -1 reviewed silent c.3510 p.K1170 1 NULL HMMPfam_Ion_trans - no_errors TRPM1 4308 broad.mit.edu 36 15 29117636 29117636 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 29117636 29117636 G A SNP TRPM1 NM_002420 human genbank 54_36p -1 reviewed missense c.2276 p.P759L 1 NULL HMMPfam_Ion_trans - no_errors FMN1 342184 broad.mit.edu 36 15 30853848 30853848 + Splice_Site SNP C C G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 30853848 30853848 C G SNP FMN1 NM_001103184 human genbank 54_36p -1 provisional splice_site c.3547-1 e17-1 1 - - - no_errors RYR3 6263 broad.mit.edu 36 15 31646215 31646215 + Silent SNP G G A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 31646215 31646215 G A SNP RYR3 NM_001036 human genbank 54_36p 1 validated silent c.1191 p.L397 1 "HMMPfam_MIR,superfamily_MIR domain (Pfam 02815)" "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR3 6263 broad.mit.edu 36 15 31680950 31680950 + Silent SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 31680950 31680950 G T SNP RYR3 NM_001036 human genbank 54_36p 1 validated silent c.1827 p.G609 1 HMMPfam_RYDR_ITPR "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR3 6263 broad.mit.edu 36 15 31682691 31682691 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 31682691 31682691 C T SNP RYR3 NM_001036 human genbank 54_36p 1 validated silent c.1998 p.I666 0.97 "HMMPfam_SPRY,HMMSmart_SM00449" "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR3 6263 broad.mit.edu 36 15 31775970 31775970 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 31775970 31775970 G T SNP RYR3 NM_001036 human genbank 54_36p 1 validated missense c.6120 p.M2040I 1 HMMPfam_RYDR_ITPR "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR3 6263 broad.mit.edu 36 15 31819358 31819358 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 31819358 31819358 C T SNP RYR3 NM_001036 human genbank 54_36p 1 validated missense c.7690 p.P2564S 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand" - no_errors C15orf29 79768 broad.mit.edu 36 15 32226727 32226727 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 15 32226727 32226727 G C SNP C15orf29 NM_024713 human genbank 54_36p -1 validated missense c.664 p.L222V 1 NULL NULL - no_errors SLC12A6 9990 broad.mit.edu 36 15 32315550 32315550 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 32315550 32315550 G A SNP SLC12A6 NM_133647 human genbank 54_36p -1 reviewed missense c.3185 p.A1062V 0.99 NULL "HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1" - no_errors C15orf55 256646 broad.mit.edu 36 15 32436004 32436004 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 32436004 32436004 G T SNP C15orf55 NM_175741 human genbank 54_36p 1 validated nonsense c.2419 p.G807* 0 NULL NULL - no_errors C15orf55 256646 broad.mit.edu 36 15 32436146 32436146 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 15 32436146 32436146 C T SNP C15orf55 NM_175741 human genbank 54_36p 1 validated missense c.2561 p.S854F 0.05 NULL NULL - no_errors GJD2 57369 broad.mit.edu 36 15 32832807 32832807 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 32832807 32832807 T C SNP GJD2 NM_020660 human genbank 54_36p -1 provisional missense c.130 p.T44A 1 "HMMPfam_Connexin,HMMSmart_CNX" "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors AQR 9716 broad.mit.edu 36 15 33018270 33018270 + Silent SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 33018270 33018270 G A SNP AQR NM_014691 human genbank 54_36p -1 validated silent c.678 p.I226 1 NULL superfamily_SSF52540 - no_errors C15orf41 728257 broad.mit.edu 36 15 34659362 34659362 + 5'Flank SNP G G C novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 34659362 34659362 G C SNP LOC728257 XR_015358 human genbank 54_36p 1 model 5_prime_flanking_region c.-37157 NULL 1 - - - pseudogene SPRED1 161742 broad.mit.edu 36 15 36430560 36430560 + Silent SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 36430560 36430560 C G SNP SPRED1 NM_152594 human genbank 54_36p 1 reviewed silent c.738 p.V246 0.99 NULL "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_Sprouty" - no_errors THBS1 7057 broad.mit.edu 36 15 37663834 37663834 + Silent SNP T T A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 15 37663834 37663834 T A SNP THBS1 NM_003246 human genbank 54_36p 1 reviewed silent c.945 p.P315 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors THBS1 7057 broad.mit.edu 36 15 37668063 37668063 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 37668063 37668063 G C SNP THBS1 NM_003246 human genbank 54_36p 1 reviewed missense c.1516 p.V506L 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" ############################################################################################################################################################################################################################################################### - no_errors GPR176 11245 broad.mit.edu 36 15 37880903 37880903 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 37880903 37880903 G T SNP GPR176 NM_007223 human genbank 54_36p -1 provisional missense c.1270 p.P424T 0.39 NULL "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors EIF2AK4 440275 broad.mit.edu 36 15 38069855 38069855 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 38069855 38069855 C A SNP EIF2AK4 NM_001013703 human genbank 54_36p 1 validated missense c.2616 p.D872E 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PAK6 56924 broad.mit.edu 36 15 38344471 38344471 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 38344471 38344471 C A SNP PAK6 NM_020168 human genbank 54_36p 1 reviewed missense c.193 p.Q65K 1 HMMPfam_PBD "HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors PAK6 56924 broad.mit.edu 36 15 38352839 38352839 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 38352839 38352839 G C SNP PAK6 NM_020168 human genbank 54_36p 1 reviewed missense c.1491 p.R497S 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMPfam_PBD,HMMSmart_SM00285,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors PLCB2 5330 broad.mit.edu 36 15 38368263 38368263 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 38368263 38368263 A C SNP PLCB2 NM_004573 human genbank 54_36p -1 validated missense c.3503 p.L1168R 0 NULL "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors PLCB2 5330 broad.mit.edu 36 15 38378119 38378119 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 38378119 38378119 G C SNP PLCB2 NM_004573 human genbank 54_36p -1 validated missense c.933 p.H311Q 0.56 "HMMPfam_efhand_like,superfamily_EF-hand" "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PLC-beta_C,HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand" - no_errors PLCB2 5330 broad.mit.edu 36 15 38381454 38381454 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 38381454 38381454 C T SNP PLCB2 NM_004573 human genbank 54_36p -1 validated missense c.578 p.G193D 1 superfamily_EF-hand "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PLC-beta_C,HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand" - no_errors DISP2 85455 broad.mit.edu 36 15 38448441 38448441 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 38448441 38448441 T C SNP DISP2 NM_033510 human genbank 54_36p 1 reviewed missense c.2836 p.W946R 1 superfamily_SSF82866 superfamily_SSF82866 - no_errors DISP2 85455 broad.mit.edu 36 15 38448638 38448638 + Silent SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 38448638 38448638 G A SNP DISP2 NM_033510 human genbank 54_36p 1 reviewed silent c.3033 p.E1011 0.94 superfamily_SSF82866 superfamily_SSF82866 - no_errors DISP2 85455 broad.mit.edu 36 15 38448827 38448827 + Silent SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 38448827 38448827 C A SNP DISP2 NM_033510 human genbank 54_36p 1 reviewed silent c.3222 p.G1074 0.24 superfamily_SSF82866 superfamily_SSF82866 - no_errors DISP2 85455 broad.mit.edu 36 15 38449614 38449614 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 38449614 38449614 C T SNP DISP2 NM_033510 human genbank 54_36p 1 reviewed missense c.4009 p.R1337W 1 NULL superfamily_SSF82866 - no_errors IVD 3712 broad.mit.edu 36 15 38485439 38485439 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 38485439 38485439 A C SNP IVD NM_002225 human genbank 54_36p 1 reviewed missense c.119 p.N40T 1 NULL "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2" - no_errors VPS18 57617 broad.mit.edu 36 15 38978947 38978947 + Silent SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 38978947 38978947 C T SNP VPS18 NM_020857 human genbank 54_36p 1 reviewed silent c.639 p.G213 0.99 NULL "HMMPfam_Pep3_Vps18,superfamily_ARM repeat" - no_errors INO80 54617 broad.mit.edu 36 15 39063352 39063352 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39063352 39063352 G A SNP INO80 NM_017553 human genbank 54_36p -1 validated silent c.4137 p.D1379 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors INO80 54617 broad.mit.edu 36 15 39171602 39171602 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39171602 39171602 T C SNP INO80 NM_017553 human genbank 54_36p -1 validated missense c.452 p.N151S 0.94 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors EXD1 161829 broad.mit.edu 36 15 39275431 39275432 + Missense_Mutation DNP TT TT AA novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39275431 39275432 TT AA DNP EXD1 NM_152596 human genbank 54_36p -1 provisional missense c.457_456 p.RI152SF 1.000:0.998 "superfamily_Ribonuclease H-like,HMMSmart_SM00474,HMMPfam_3_5_exonuc" "superfamily_Ribonuclease H-like,HMMSmart_SM00474,HMMPfam_3_5_exonuc" - no_errors RHOV 171177 broad.mit.edu 36 15 39358311 39358311 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39358311 39358311 G A SNP CHP NM_007236 human genbank 54_36p 1 reviewed missense c.466 p.A156T 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand" - no_errors NUSAP1 51203 broad.mit.edu 36 15 39428673 39428673 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39428673 39428673 G A SNP NUSAP1 NM_018454 human genbank 54_36p 1 validated missense c.248 p.G83D 0 NULL NULL - no_errors RTF1 23168 broad.mit.edu 36 15 39555255 39555255 + Silent SNP A A G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39555255 39555255 A G SNP RTF1 NM_015138 human genbank 54_36p 1 validated silent c.1053 p.E351 1 NULL "HMMSmart_Plus3,HMMPfam_Plus-3" - no_errors LTK 4058 broad.mit.edu 36 15 39583588 39583588 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39583588 39583588 C G SNP LTK NM_002344 human genbank 54_36p -1 reviewed missense c.2493 p.W831C 0.11 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors TYRO3 7301 broad.mit.edu 36 15 39646884 39646884 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39646884 39646884 C G SNP TYRO3 NM_006293 human genbank 54_36p 1 provisional missense c.818 p.A273G 1 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors MGA 23269 broad.mit.edu 36 15 39808680 39808680 + Silent SNP C C G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39808680 39808680 C G SNP MGA NM_001080541 human genbank 54_36p 1 provisional silent c.3684 p.V1228 1 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_2,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353" - no_errors MGA 23269 broad.mit.edu 36 15 39828855 39828855 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39828855 39828855 A G SNP MGA NM_001080541 human genbank 54_36p 1 provisional missense c.5905 p.T1969A 1 NULL "HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2" - no_errors MGA 23269 broad.mit.edu 36 15 39839925 39839925 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39839925 39839925 G A SNP MGA NM_001080541 human genbank 54_36p 1 provisional missense c.7451 p.R2484Q 1 "HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain" "HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2" - no_errors JMJD7-PLA2G4B 8681 broad.mit.edu 36 15 39916423 39916423 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39916423 39916423 C G SNP JMJD7-PLA2G4B ENST00000335032 human ensembl 54_36p 1 known missense c.855 p.C285W 1 "superfamily_Clavaminate synthase-like,HMMSmart_SM00558" "superfamily_Clavaminate synthase-like,HMMSmart_SM00558" - no_errors JMJD7-PLA2G4B 8681 broad.mit.edu 36 15 39924508 39924508 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39924508 39924508 G C SNP JMJD7-PLA2G4B NM_005090 human genbank 54_36p 1 validated missense c.1880 p.S627T 0.36 "HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" - no_errors SPTBN5 51332 broad.mit.edu 36 15 39932820 39932820 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39932820 39932820 G T SNP SPTBN5 NM_016642 human genbank 54_36p -1 validated nonsense c.10098 p.C3366* 0.01 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors SPTBN5 51332 broad.mit.edu 36 15 39955714 39955715 + Missense_Mutation DNP CA CA TT novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39955714 39955715 CA TT DNP SPTBN5 NM_016642 human genbank 54_36p -1 validated missense c.4012_4011 p.A1338T 0.000:0.000 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like" - no_errors SPTBN5 51332 broad.mit.edu 36 15 39960656 39960656 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39960656 39960656 G A SNP SPTBN5 NM_016642 human genbank 54_36p -1 validated silent c.2526 p.C842 0.04 "HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like" - no_errors SPTBN5 51332 broad.mit.edu 36 15 39965754 39965754 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 39965754 39965754 C G SNP SPTBN5 NM_016642 human genbank 54_36p -1 validated missense c.991 p.A331P 0.7 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like" - no_errors EHD4 30844 broad.mit.edu 36 15 39980247 39980247 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 39980247 39980247 G A SNP EHD4 NM_139265 human genbank 54_36p -1 provisional missense c.1514 p.A505V 1 "superfamily_SSF47473,HMMSmart_EH" "superfamily_SSF52540,HMMPfam_Dynamin_N,superfamily_SSF47473,HMMSmart_EH,PatternScan_EF_HAND_1" - no_errors PLA2G4F 255189 broad.mit.edu 36 15 40229338 40229338 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 40229338 40229338 G T SNP PLA2G4F NM_213600 human genbank 54_36p -1 provisional missense c.924 p.S308R 0.95 HMMSmart_SM00022 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" - no_errors PLA2G4F 255189 broad.mit.edu 36 15 40229594 40229594 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 40229594 40229594 C G SNP PLA2G4F NM_213600 human genbank 54_36p -1 provisional missense c.923 p.S308T 1 HMMSmart_SM00022 "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FabD/lysophospholipase-like" - no_errors PLA2G4F 255189 broad.mit.edu 36 15 40230176 40230176 + Silent SNP G G C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 15 40230176 40230176 G C SNP PLA2G4F NM_213600 human genbank 54_36p -1 provisional silent c.693 p.P231 0 NULL "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FabD/lysophospholipase-like" - no_errors VPS39 23339 broad.mit.edu 36 15 40267316 40267316 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 40267316 40267316 T C SNP VPS39 NM_015289 human genbank 54_36p -1 reviewed missense c.373 p.M125V 1 HMMPfam_CNH "HMMPfam_CNH,HMMPfam_Vps39_1,HMMPfam_Vps39_2" - no_errors ZFP106 64397 broad.mit.edu 36 15 40531348 40531348 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 40531348 40531348 C A SNP ZFP106 NM_022473 human genbank 54_36p -1 provisional missense c.345 p.E115D 0.97 NULL "PatternScan_WD_REPEATS_1,HMMSmart_ZnF_C2H2,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMSmart_PQQ,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CDAN1 146059 broad.mit.edu 36 15 40805047 40805047 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 40805047 40805047 G A SNP CDAN1 NM_138477 human genbank 54_36p -1 validated missense c.3382 p.P1128S 1 NULL NULL - no_errors TTBK2 146057 broad.mit.edu 36 15 40831560 40831560 + Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 40831560 40831560 C T SNP TTBK2 NM_173500 human genbank 54_36p -1 validated nonsense c.3176 p.W1059* 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" - no_errors TTBK2 146057 broad.mit.edu 36 15 40832482 40832482 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 40832482 40832482 G C SNP TTBK2 NM_173500 human genbank 54_36p -1 validated missense c.2254 p.Q752E 0.46 NULL "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CCNDBP1 23582 broad.mit.edu 36 15 41265350 41265350 + Silent SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41265350 41265350 G A SNP CCNDBP1 NM_012142 human genbank 54_36p 1 reviewed silent c.150 p.E50 0.27 NULL NULL - no_errors EPB42 2038 broad.mit.edu 36 15 41286022 41286022 + Silent SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41286022 41286022 G C SNP EPB42 NM_000119 human genbank 54_36p -1 reviewed silent c.1506 p.A502 0 NULL "superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core,superfamily_Transglut_C,HMMPfam_Transglut_C" - no_errors EPB42 2038 broad.mit.edu 36 15 41287794 41287794 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41287794 41287794 A T SNP EPB42 NM_000119 human genbank 54_36p -1 reviewed missense c.1091 p.M364K 1 "HMMPfam_Transglut_core,HMMSmart_TGc,superfamily_SSF54001" "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_TGc,HMMPfam_Transglut_C,superfamily_Transglut_C,PatternScan_TRANSGLUTAMINASES,superfamily_Ig_E-set,superfamily_SSF54001" - no_errors TGM7 116179 broad.mit.edu 36 15 41358697 41358697 + Silent SNP G G A novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41358697 41358697 G A SNP TGM7 NM_052955 human genbank 54_36p -1 validated silent c.1749 p.R583 0.98 "superfamily_Transglut_C,HMMPfam_Transglut_C" "superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglut_C,HMMPfam_Transglut_C" - no_errors TGM7 116179 broad.mit.edu 36 15 41367123 41367123 + Silent SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41367123 41367123 G A SNP TGM7 NM_052955 human genbank 54_36p -1 validated silent c.595 p.L199 0.96 superfamily_SSF54001 "HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_TGc,HMMPfam_Transglut_C,superfamily_Transglut_C,PatternScan_TRANSGLUTAMINASES,superfamily_Ig_E-set,superfamily_SSF54001" - no_errors TP53BP1 7158 broad.mit.edu 36 15 41511874 41511874 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41511874 41511874 A C SNP TP53BP1 NM_005657 human genbank 54_36p -1 validated missense c.3470 p.M1157R 0.26 NULL "HMMPfam_53-BP1_Tudor,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00292,superfamily_BRCT domain,HMMPfam_BRCT" - no_errors TP53BP1 7158 broad.mit.edu 36 15 41555128 41555133 + In_Frame_Del DEL AAGCCA - AAGCCA novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W AAGCCA AAGCCA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 41555128 41555133 AAGCCA - DEL TP53BP1 NM_005657 human genbank 54_36p -1 validated in_frame_del c.997_992 p.LA331in_frame_del 0.999:0.988:0.992:0.995:0.998:0.998 NULL "HMMPfam_53-BP1_Tudor,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00292,superfamily_BRCT domain,HMMPfam_BRCT" "(deletion:cds_exon[41555055,41555184])" no_errors MAP1A 4130 broad.mit.edu 36 15 41601496 41601496 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 41601496 41601496 G A SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed missense c.533 p.R178H 1 NULL superfamily_Metallo-hydrolase/oxidoreductase - no_errors MAP1A 4130 broad.mit.edu 36 15 41604119 41604119 + Silent SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 41604119 41604119 G T SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed silent c.3156 p.G1052 0 NULL superfamily_Metallo-hydrolase/oxidoreductase - no_errors MAP1A 4130 broad.mit.edu 36 15 41605892 41605892 + Silent SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41605892 41605892 G A SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed silent c.4929 p.G1643 0.03 NULL superfamily_Metallo-hydrolase/oxidoreductase - no_errors MAP1A 4130 broad.mit.edu 36 15 41606018 41606018 + Silent SNP C C A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41606018 41606018 C A SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed silent c.5055 p.G1685 0.49 NULL superfamily_Metallo-hydrolase/oxidoreductase - no_errors CATSPER2 117155 broad.mit.edu 36 15 41727460 41727460 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41727460 41727460 T A SNP CATSPER2 NM_172095 human genbank 54_36p -1 reviewed missense c.92 p.H31L 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors PDIA3 2923 broad.mit.edu 36 15 41826085 41826085 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 41826085 41826085 C T SNP PDIA3 NM_005313 human genbank 54_36p 1 reviewed missense c.56 p.A19V 1 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors C15orf63 25764 broad.mit.edu 36 15 41880188 41880188 + Silent SNP C C A rs34257400 Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 41880188 41880188 C A SNP HYPK NM_016400 human genbank 54_36p 1 provisional silent c.100 p.R34 0.99 NULL NULL - no_errors WDR76 79968 broad.mit.edu 36 15 41907809 41907809 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 41907809 41907809 G A SNP WDR76 NM_024908 human genbank 54_36p 1 provisional missense c.415 p.E139K 0.67 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors FRMD5 84978 broad.mit.edu 36 15 41953561 41953561 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 41953561 41953561 C T SNP FRMD5 NM_032892 human genbank 54_36p -1 validated missense c.1527 p.M509I 1 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA" - no_errors CASC4 113201 broad.mit.edu 36 15 42460296 42460296 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 42460296 42460296 A G SNP CASC4 NM_138423 human genbank 54_36p 1 reviewed missense c.902 p.D301G 0.21 NULL NULL - no_errors SPG11 80208 broad.mit.edu 36 15 42708804 42708804 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 42708804 42708804 T G SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed missense c.1810 p.K604Q 1 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors SPG11 80208 broad.mit.edu 36 15 42740010 42740010 + Silent SNP A A G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 42740010 42740010 A G SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed silent c.354 p.F118 0.99 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors B2M 567 broad.mit.edu 36 15 42791037 42791037 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 42791037 42791037 A G SNP B2M NM_004048 human genbank 54_36p 1 validated missense c.1 p.M1V 0.06 NULL "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors DUOX2 50506 broad.mit.edu 36 15 43175366 43175366 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 43175366 43175366 C A SNP DUOX2 NM_014080 human genbank 54_36p -1 reviewed missense c.4032 p.R1344S 1 "superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8" ############################################################################################################################################################################################################################################################### - no_errors DUOX1 53905 broad.mit.edu 36 15 43230189 43230189 + Silent SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 43230189 43230189 C T SNP DUOX1 NM_017434 human genbank 54_36p 1 reviewed silent c.2886 p.I962 1 NULL ############################################################################################################################################################################################################################################################### - no_errors DUOX1 53905 broad.mit.edu 36 15 43231933 43231933 + Silent SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 43231933 43231933 C G SNP DUOX1 NM_017434 human genbank 54_36p 1 reviewed silent c.3351 p.L1117 1 HMMPfam_Ferric_reduct ############################################################################################################################################################################################################################################################### - no_errors DUOX1 53905 broad.mit.edu 36 15 43235335 43235335 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 43235335 43235335 T A SNP DUOX1 NM_017434 human genbank 54_36p 1 reviewed nonsense c.3618 p.Y1206* 0.97 HMMPfam_Ferric_reduct ############################################################################################################################################################################################################################################################### - no_errors SLC28A2 9153 broad.mit.edu 36 15 43345143 43345143 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 43345143 43345143 T C SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.851 p.V284A 0.71 HMMPfam_Gate "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SPATA5L1 79029 broad.mit.edu 36 15 43500544 43500544 + Silent SNP G G T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 43500544 43500544 G T SNP SPATA5L1 NM_024063 human genbank 54_36p 1 provisional silent c.2106 p.L702 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors FBN1 2200 broad.mit.edu 36 15 46495237 46495237 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 46495237 46495237 G A SNP FBN1 NM_000138 human genbank 54_36p -1 reviewed silent c.7839 p.S2613 0.76 "superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181" ############################################################################################################################################################################################################################################################### - no_errors FBN1 2200 broad.mit.edu 36 15 46605669 46605669 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 46605669 46605669 C G SNP FBN1 NM_000138 human genbank 54_36p -1 reviewed missense c.938 p.C313S 1 "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors SHC4 399694 broad.mit.edu 36 15 46922940 46922940 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 46922940 46922940 G A SNP SHC4 NM_203349 human genbank 54_36p -1 validated nonsense c.1441 p.Q481* 0.04 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors SHC4 399694 broad.mit.edu 36 15 46947314 46947314 + Silent SNP A A G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 46947314 46947314 A G SNP SHC4 NM_203349 human genbank 54_36p -1 validated silent c.939 p.N313 1 "HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like" "HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like,superfamily_SH2 domain" - no_errors HDC 3067 broad.mit.edu 36 15 48331931 48331931 + Silent SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 48331931 48331931 G A SNP HDC NM_002112 human genbank 54_36p -1 validated silent c.1029 p.A343 1 "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Pyridoxal_deC" "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC" - no_errors USP8 9101 broad.mit.edu 36 15 48544572 48544572 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 15 48544572 48544572 C T SNP USP8 NM_005154 human genbank 54_36p 1 validated missense c.578 p.T193M 1 "superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD" "HMMPfam_DUF1873,superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors TRPM7 54822 broad.mit.edu 36 15 48671444 48671444 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 15 48671444 48671444 G C SNP TRPM7 NM_017672 human genbank 54_36p -1 validated missense c.4280 p.S1427C 0.34 NULL "HMMPfam_Ion_trans,superfamily_Kinase_like,HMMSmart_Alpha_kinase,HMMPfam_Alpha_kinase" - no_errors TRPM7 54822 broad.mit.edu 36 15 48689099 48689099 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 15 48689099 48689099 C A SNP TRPM7 NM_017672 human genbank 54_36p -1 validated missense c.2551 p.A851S 1 NULL "HMMPfam_Alpha_kinase,HMMSmart_Alpha_kinase,HMMPfam_Ion_trans,superfamily_Kinase_like" - no_errors GLDN 342035 broad.mit.edu 36 15 49483974 49483974 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 49483974 49483974 G A SNP GLDN NM_181789 human genbank 54_36p 1 validated missense c.1387 p.V463I 1 "HMMPfam_OLF,HMMSmart_SM00284" "HMMPfam_Collagen,HMMPfam_OLF,HMMSmart_SM00284" - no_errors DMXL2 23312 broad.mit.edu 36 15 49560649 49560649 + Missense_Mutation SNP G G T rs3751584 "by-cluster,by-frequency,by-hapmap" TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 49560649 49560649 G T SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.5946 p.H1982Q 0.98 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DMXL2 23312 broad.mit.edu 36 15 49616223 49616223 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 49616223 49616223 C G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.1746 p.E582D 0 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors DMXL2 23312 broad.mit.edu 36 15 49616266 49616266 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 49616266 49616266 A C SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.1703 p.I568R 0.24 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors TMOD2 29767 broad.mit.edu 36 15 49877791 49877791 + Frame_Shift_Del DEL G - G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 15 49877791 49877791 G - DEL TMOD2 NM_014548 human genbank 54_36p 1 reviewed frame_shift_del c.838 p.E280fs 1 "HMMPfam_Tropomodulin,superfamily_SSF52047" "HMMPfam_Tropomodulin,superfamily_SSF52047" "(deletion:cds_exon[49877686,49877829])" no_errors TMOD3 29766 broad.mit.edu 36 15 49968619 49968619 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 49968619 49968619 C G SNP TMOD3 NM_014547 human genbank 54_36p 1 provisional missense c.481 p.Q161E 0.98 HMMPfam_Tropomodulin "HMMPfam_Tropomodulin,superfamily_SSF52047" - no_errors MAPK6 5597 broad.mit.edu 36 15 50143789 50143789 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 50143789 50143789 A C SNP MAPK6 NM_002748 human genbank 54_36p 1 reviewed missense c.1466 p.K489T 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MYO5C 55930 broad.mit.edu 36 15 50304578 50304578 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 50304578 50304578 T G SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.3351 p.E1117D 1 NULL "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors MYO5C 55930 broad.mit.edu 36 15 50324876 50324876 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 50324876 50324876 C A SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.2145 p.E715D 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO5A 4644 broad.mit.edu 36 15 50476768 50476768 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 50476768 50476768 C G SNP MYO5A NM_000259 human genbank 54_36p -1 reviewed missense c.1241 p.W414S 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors UNC13C 440279 broad.mit.edu 36 15 52094181 52094181 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 52094181 52094181 C A SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.1789 p.L597M 0.97 NULL "superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors UNC13C 440279 broad.mit.edu 36 15 52626254 52626254 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 52626254 52626254 G C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.5739 p.K1913N 1 HMMPfam_Membr_traf_MHD "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors RSL24D1 51187 broad.mit.edu 36 15 53262833 53262833 + Silent SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 53262833 53262833 G A SNP RSL24D1 NM_016304 human genbank 54_36p -1 reviewed silent c.390 p.N130 1 NULL "HMMPfam_Ribosomal_L24e,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00746,PatternScan_RIBOSOMAL_L24E" - no_errors PIGB 9488 broad.mit.edu 36 15 53420190 53420191 + Nonsense_Mutation DNP TC TC GA novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 53420190 53420191 TC GA DNP PIGB NM_004855 human genbank 54_36p 1 reviewed nonsense c.935_936 p.FS312* 1.000:1.000 HMMPfam_Glyco_transf_22 HMMPfam_Glyco_transf_22 - no_errors NEDD4 4734 broad.mit.edu 36 15 53995840 53995840 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 15 53995840 53995840 G T SNP NEDD4 NM_198400 human genbank 54_36p -1 validated missense c.482 p.S161Y 1 NULL "superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT" - no_errors CGNL1 84952 broad.mit.edu 36 15 55517809 55517809 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 55517809 55517809 C T SNP CGNL1 NM_032866 human genbank 54_36p 1 validated missense c.320 p.P107L 0.2 NULL HMMPfam_Myosin_tail_1 - no_errors CGNL1 84952 broad.mit.edu 36 15 55518324 55518324 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 55518324 55518324 C T SNP CGNL1 NM_032866 human genbank 54_36p 1 validated missense c.835 p.R279W 1 NULL HMMPfam_Myosin_tail_1 - no_errors CGNL1 84952 broad.mit.edu 36 15 55597894 55597894 + Silent SNP A A T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 55597894 55597894 A T SNP CGNL1 NM_032866 human genbank 54_36p 1 validated silent c.2622 p.R874 0.48 NULL HMMPfam_Myosin_tail_1 - no_errors GCOM1 145781 broad.mit.edu 36 15 55697672 55697672 + Missense_Mutation SNP C C G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 55697672 55697672 C G SNP GCOM1 NM_001018090 human genbank 54_36p 1 reviewed missense c.312 p.I104M 1 NULL NULL - no_errors AQP9 366 broad.mit.edu 36 15 56252647 56252647 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 56252647 56252647 G C SNP AQP9 NM_020980 human genbank 54_36p 1 reviewed missense c.327 p.Q109H 1 "HMMPfam_MIP,superfamily_Aquaporin-like" "HMMPfam_MIP,superfamily_Aquaporin-like,PatternScan_MIP" - no_errors ADAM10 102 broad.mit.edu 36 15 56720384 56720384 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 56720384 56720384 T A SNP ADAM10 NM_001110 human genbank 54_36p -1 reviewed missense c.896 p.K299M 1 "superfamily_SSF55486,HMMPfam_Reprolysin" "PatternScan_CYSTEINE_SWITCH,PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMPfam_Disintegrin,HMMSmart_DISIN,superfamily_Disintegrin" - no_errors FAM63B 54629 broad.mit.edu 36 15 56851602 56851602 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 56851602 56851602 G A SNP FAM63B NM_001040450 human genbank 54_36p 1 validated missense c.716 p.G239E 1 NULL "PatternScan_ATPASE_ALPHA_BETA,HMMPfam_DUF544" - no_errors RNF111 54778 broad.mit.edu 36 15 57170618 57170618 + Missense_Mutation SNP A A T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 57170618 57170618 A T SNP RNF111 NM_017610 human genbank 54_36p 1 reviewed missense c.2712 p.R904S 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors LDHAL6B 92483 broad.mit.edu 36 15 57287097 57287097 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 15 57287097 57287097 G C SNP LDHAL6B NM_033195 human genbank 54_36p 1 provisional missense c.666 p.L222F 1 "superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C" "superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N,superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C,PatternScan_L_LDH" - no_errors FOXB1 27023 broad.mit.edu 36 15 58084726 58084726 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 58084726 58084726 C G SNP FOXB1 NM_012182 human genbank 54_36p 1 validated missense c.272 p.P91R 1 "HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head" "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors FOXB1 27023 broad.mit.edu 36 15 58084968 58084968 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 58084968 58084968 A T SNP FOXB1 NM_012182 human genbank 54_36p 1 validated missense c.514 p.I172F 1 NULL "HMMPfam_Fork_head,HMMSmart_FH,PatternScan_FORK_HEAD_1,PatternScan_FORK_HEAD_2,superfamily_SSF46785" - no_errors NARG2 79664 broad.mit.edu 36 15 58521964 58521964 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 58521964 58521964 C T SNP NARG2 NM_024611 human genbank 54_36p -1 validated missense c.2368 p.E790K 1 HMMPfam_NARG2_C HMMPfam_NARG2_C - no_errors RORA 6095 broad.mit.edu 36 15 58611317 58611317 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 58611317 58611317 C G SNP RORA NM_134260 human genbank 54_36p -1 reviewed missense c.321 p.K107N 1 "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors RORA 6095 broad.mit.edu 36 15 58706824 58706824 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 58706824 58706824 C A SNP RORA NM_134260 human genbank 54_36p -1 reviewed missense c.42 p.E14D 0.49 NULL "HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors VPS13C 54832 broad.mit.edu 36 15 59954389 59954389 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 59954389 59954389 T A SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.10392 p.R3464S 1 NULL HMMPfam_DUF1162 - no_errors VPS13C 54832 broad.mit.edu 36 15 59986810 59986810 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 59986810 59986810 G T SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.9050 p.T3017N 0.7 HMMPfam_DUF1162 HMMPfam_DUF1162 - no_errors VPS13C 54832 broad.mit.edu 36 15 59988545 59988545 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 59988545 59988545 C T SNP VPS13C NM_020821 human genbank 54_36p -1 validated silent c.8916 p.E2972 1 HMMPfam_DUF1162 HMMPfam_DUF1162 - no_errors TLN2 83660 broad.mit.edu 36 15 60841913 60841913 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 60841913 60841913 G A SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed missense c.4930 p.D1644N 1 NULL "PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ" - no_errors TLN2 83660 broad.mit.edu 36 15 60899796 60899796 + Silent SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 60899796 60899796 G A SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed silent c.6936 p.G2312 1 superfamily_SSF109885 "HMMPfam_I_LWEQ,HMMSmart_ILWEQ,HMMPfam_VBS,HMMPfam_Talin_middle,superfamily_Talin_cent,HMMPfam_FERM_N,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF109885,superfamily_SSF50729" - no_errors TLN2 83660 broad.mit.edu 36 15 60912774 60912774 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 60912774 60912774 G A SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed missense c.7021 p.D2341N 1 "HMMSmart_ILWEQ,superfamily_SSF109885" "HMMPfam_I_LWEQ,HMMSmart_ILWEQ,HMMPfam_VBS,HMMPfam_Talin_middle,superfamily_Talin_cent,HMMPfam_FERM_N,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF109885,superfamily_SSF50729" - no_errors CA12 771 broad.mit.edu 36 15 61421330 61421330 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 61421330 61421330 T G SNP CA12 NM_001218 human genbank 54_36p -1 reviewed missense c.449 p.N150T 1 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors HERC1 8925 broad.mit.edu 36 15 61737916 61737942 + In_Frame_Del DEL TGCTCTCCTAACGTTATTCTCCCAGAG - TGCTCTCCTAACGTTATTCTCCCAGAG novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 TGCTCTCCTAACGTTATTCTCCCAGAG TGCTCTCCTAACGTTATTCTCCCAGAG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 15 61737916 61737942 TGCTCTCCTAACGTTATTCTCCCAGAG - DEL HERC1 NM_003922 human genbank 54_36p -1 reviewed in_frame_del c.9479_9453 p.SGRITLGEQ3152in_frame_del 1.000:1.000:0.998:1.000:1.000:0.994:1.000:0.996:0.381:0.402:0.098:0.010:0.997:1.000:1.000:1.000:1.000:0.999:1.000:0.995:0.985:1.000:1.000:0.986:1.000:1.000:0.997 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[61737796,61737970])" no_errors HERC1 8925 broad.mit.edu 36 15 61745371 61745371 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 61745371 61745371 G A SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed silent c.8355 p.I2785 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC1 8925 broad.mit.edu 36 15 61792814 61792814 + Silent SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 61792814 61792814 A G SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed silent c.4254 p.P1418 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MTFMT 123263 broad.mit.edu 36 15 63082647 63082647 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 63082647 63082647 C A SNP MTFMT NM_139242 human genbank 54_36p -1 validated missense c.721 p.D241Y 1 "HMMPfam_Formyl_trans_C,superfamily_FMT C-terminal domain-like" "HMMPfam_Formyl_trans_N,superfamily_Formyltransferase,HMMPfam_Formyl_trans_C,superfamily_FMT C-terminal domain-like" - no_errors MTFMT 123263 broad.mit.edu 36 15 63101003 63101003 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 63101003 63101003 C T SNP MTFMT NM_139242 human genbank 54_36p -1 validated missense c.292 p.D98N 1 "HMMPfam_Formyl_trans_N,superfamily_Formyltransferase" "HMMPfam_Formyl_trans_N,superfamily_Formyltransferase,HMMPfam_Formyl_trans_C,superfamily_FMT C-terminal domain-like" - no_errors RASL12 51285 broad.mit.edu 36 15 63138788 63138789 + Missense_Mutation DNP TC TC AA novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 63138788 63138789 TC AA DNP RASL12 NM_016563 human genbank 54_36p -1 validated missense c.182_181 p.E61L 1.000:1.000 "superfamily_SSF52540,HMMPfam_Ras" "superfamily_SSF52540,HMMPfam_Ras" - no_errors CILP 8483 broad.mit.edu 36 15 63286379 63286379 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 63286379 63286379 C T SNP CILP NM_003613 human genbank 54_36p -1 reviewed missense c.218 p.R73Q 1 NULL "PatternScan_HEXAPEP_TRANSFERASES,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Carboxypeptidase regulatory domain,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors IGDCC3 9543 broad.mit.edu 36 15 63408533 63408533 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 63408533 63408533 G T SNP IGDCC3 NM_004884 human genbank 54_36p -1 validated missense c.2212 p.P738T 0.02 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors IGDCC3 9543 broad.mit.edu 36 15 63411349 63411349 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 63411349 63411349 C T SNP IGDCC3 NM_004884 human genbank 54_36p -1 validated silent c.1131 p.R377 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors IGDCC3 9543 broad.mit.edu 36 15 63411438 63411438 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 63411438 63411438 T A SNP IGDCC3 NM_004884 human genbank 54_36p -1 validated missense c.1042 p.M348L 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors IGDCC4 57722 broad.mit.edu 36 15 63489665 63489665 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 63489665 63489665 T A SNP IGDCC4 NM_020962 human genbank 54_36p -1 provisional missense c.467 p.E156V 0.44 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors DPP8 54878 broad.mit.edu 36 15 63586648 63586648 + Silent SNP A A G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 63586648 63586648 A G SNP DPP8 NM_197960 human genbank 54_36p -1 reviewed silent c.406 p.L136 0.99 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain "superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9" - no_errors DENND4A 10260 broad.mit.edu 36 15 63831868 63831868 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 63831868 63831868 G A SNP DENND4A NM_005848 human genbank 54_36p -1 validated missense c.464 p.T155M 0.69 NULL "HMMSmart_uDENN,HMMPfam_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_PPR" - no_errors DIS3L 115752 broad.mit.edu 36 15 64412395 64412395 + Splice_Site SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 64412395 64412395 G C SNP DIS3L NM_133375 human genbank 54_36p 1 validated splice_site c.2608-1 e16-1 1 - - - no_errors TIPIN 54962 broad.mit.edu 36 15 64428797 64428797 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 64428797 64428797 C G SNP TIPIN NM_017858 human genbank 54_36p -1 validated missense c.321 p.M107I 1 HMMPfam_Swi3 HMMPfam_Swi3 - no_errors ZWILCH 55055 broad.mit.edu 36 15 64603096 64603096 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 64603096 64603096 A G SNP ZWILCH NM_017975 human genbank 54_36p 1 validated missense c.775 p.R259G 0.99 HMMPfam_DUF2352 HMMPfam_DUF2352 - no_errors LCTL 197021 broad.mit.edu 36 15 64637123 64637123 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 64637123 64637123 C T SNP LCTL NM_207338 human genbank 54_36p -1 validated missense c.913 p.D305N 1 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_2,PatternScan_GLYCOSYL_HYDROL_F1_1" - no_errors LCTL 197021 broad.mit.edu 36 15 64637179 64637179 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 64637179 64637179 C G SNP LCTL NM_207338 human genbank 54_36p -1 validated missense c.857 p.C286S 0.95 "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat" "HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2" - no_errors IQCH 64799 broad.mit.edu 36 15 65573686 65573686 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 65573686 65573686 C T SNP IQCH NM_022784 human genbank 54_36p 1 provisional missense c.1819 p.L607F 1 NULL HMMPfam_IQ - no_errors CORO2B 10391 broad.mit.edu 36 15 66798128 66798128 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 66798128 66798128 C G SNP CORO2B NM_006091 human genbank 54_36p 1 validated missense c.1005 p.C335W 1 "superfamily_WD40 repeat-like,HMMPfam_DUF1900" "HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900" - no_errors PAQR5 54852 broad.mit.edu 36 15 67483134 67483134 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 67483134 67483134 C G SNP PAQR5 NM_001104554 human genbank 54_36p 1 validated missense c.912 p.I304M 0.9 NULL HMMPfam_HlyIII - no_errors RPLP1 6176 broad.mit.edu 36 15 67532363 67532363 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 67532363 67532363 G A SNP RPLP1 NM_001003 human genbank 54_36p 1 reviewed missense c.22 p.A8T 1 NULL HMMPfam_Ribosomal_60s - no_errors UACA 55075 broad.mit.edu 36 15 68747021 68747021 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 68747021 68747021 C G SNP UACA NM_018003 human genbank 54_36p -1 validated missense c.3056 p.S1019T 0.01 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_Pox_A_type_inc" - no_errors LRRC49 54839 broad.mit.edu 36 15 69089386 69089386 + Splice_Site SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 69089386 69089386 G A SNP LRRC49 NM_017691 human genbank 54_36p 1 validated splice_site c.1593+1 e13+1 1 - - - no_errors THSD4 79875 broad.mit.edu 36 15 69844505 69844505 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 69844505 69844505 A T SNP THSD4 NM_024817 human genbank 54_36p 1 provisional missense c.2682 p.E894D 1 "HMMPfam_TSP_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_ADAM_spacer1,HMMPfam_TSP_1,HMMPfam_PLAC" - no_errors CELF6 60677 broad.mit.edu 36 15 70367937 70367937 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 70367937 70367937 T G SNP BRUNOL6 NM_052840 human genbank 54_36p -1 reviewed missense c.1170 p.R390S 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors HEXA 3073 broad.mit.edu 36 15 70430550 70430550 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 70430550 70430550 G C SNP HEXA NM_000520 human genbank 54_36p -1 reviewed missense c.650 p.T217S 0.65 "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" "superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" - no_errors ARIH1 25820 broad.mit.edu 36 15 70634759 70634759 + Splice_Site SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 70634759 70634759 G A SNP ARIH1 NM_005744 human genbank 54_36p 1 validated splice_site c.681+1 e4+1 1 - - - no_errors HCN4 10021 broad.mit.edu 36 15 71403146 71403146 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 71403146 71403146 G C SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.2341 p.P781A 1 NULL "PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1" - no_errors HCN4 10021 broad.mit.edu 36 15 71404475 71404475 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 71404475 71404475 G T SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.1852 p.P618T 1 "HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding" "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors HCN4 10021 broad.mit.edu 36 15 71422832 71422832 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 71422832 71422832 A T SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.1156 p.L386I 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors CD276 80381 broad.mit.edu 36 15 71782444 71782444 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 71782444 71782444 A G SNP CD276 NM_001024736 human genbank 54_36p 1 validated missense c.697 p.S233G 0.97 "superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00407" - no_errors TBC1D21 161514 broad.mit.edu 36 15 71967843 71967843 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 71967843 71967843 A T SNP TBC1D21 NM_153356 human genbank 54_36p 1 provisional missense c.914 p.D305V 1 superfamily_RabGAP_TBC "superfamily_RabGAP_TBC,HMMSmart_TBC" - no_errors STOML1 9399 broad.mit.edu 36 15 72063456 72063456 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 72063456 72063456 C G SNP STOML1 NM_004809 human genbank 54_36p -1 provisional missense c.1072 p.D358H 0.99 "superfamily_Sterol carrier protein SCP,HMMPfam_SCP2" "HMMSmart_SM00244,HMMPfam_Band_7,superfamily_Sterol carrier protein SCP,HMMPfam_SCP2" - no_errors ISLR2 57611 broad.mit.edu 36 15 72213827 72213827 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 72213827 72213827 C G SNP ISLR2 NM_020851 human genbank 54_36p 1 validated missense c.1679 p.P560R 1 NULL "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG" - no_errors EDC3 80153 broad.mit.edu 36 15 72751170 72751170 + Splice_Site SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 72751170 72751170 T C SNP EDC3 NM_025083 human genbank 54_36p -1 validated splice_site c.165-2 e2-2 1 - - - no_errors CYP1A1 1543 broad.mit.edu 36 15 72802408 72802409 + Missense_Mutation DNP GG GG CC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 72802408 72802409 GG CC DNP CYP1A1 NM_000499 human genbank 54_36p -1 reviewed missense c.84_83 p.A28G 0.000:0.000 NULL "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CSK 1445 broad.mit.edu 36 15 72881724 72881724 + Splice_Site SNP G G T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 72881724 72881724 G T SNP CSK NM_004383 human genbank 54_36p 1 validated splice_site c.1171-1 e12-1 1 - - - no_errors SIN3A 25942 broad.mit.edu 36 15 73480188 73480188 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 73480188 73480188 T C SNP SIN3A NM_015477 human genbank 54_36p -1 reviewed missense c.1673 p.Y558C 1 "HMMPfam_HDAC_interact,HMMSmart_HDAC_interact" "superfamily_PAH,HMMPfam_PAH,HMMPfam_HDAC_interact,HMMSmart_HDAC_interact" - no_errors SIN3A 25942 broad.mit.edu 36 15 73502113 73502113 + Silent SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 73502113 73502113 C G SNP SIN3A NM_015477 human genbank 54_36p -1 reviewed silent c.294 p.V98 1 NULL "HMMPfam_PAH,superfamily_PAH,HMMPfam_HDAC_interact,HMMSmart_HDAC_interact" - no_errors CSPG4 1464 broad.mit.edu 36 15 73766872 73766872 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 73766872 73766872 C T SNP CSPG4 NM_001897 human genbank 54_36p -1 reviewed missense c.3589 p.V1197I 0 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA" - no_errors UBE2Q2 92912 broad.mit.edu 36 15 73952823 73952823 + Splice_Site SNP G G T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 73952823 73952823 G T SNP UBE2Q2 NM_173469 human genbank 54_36p 1 validated splice_site c.448-1 e5-1 1 - - - no_errors UBE2Q2 92912 broad.mit.edu 36 15 73978838 73978838 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 73978838 73978838 C G SNP UBE2Q2 NM_173469 human genbank 54_36p 1 validated missense c.1112 p.P371R 1 NULL "superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con" - no_errors ISL2 64843 broad.mit.edu 36 15 74417365 74417365 + Splice_Site SNP T T C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 74417365 74417365 T C SNP ISL2 NM_145805 human genbank 54_36p 1 provisional splice_site c.248+2 e2+2 1 - - - no_errors SCAPER 49855 broad.mit.edu 36 15 74455688 74455688 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 74455688 74455688 C G SNP SCAPER NM_020843 human genbank 54_36p -1 validated missense c.3722 p.G1241A 1 NULL "HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SCAPER 49855 broad.mit.edu 36 15 74884026 74884026 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 74884026 74884026 C T SNP SCAPER NM_020843 human genbank 54_36p -1 validated missense c.394 p.V132M 1 NULL "HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PSTPIP1 9051 broad.mit.edu 36 15 75116508 75116509 + Frame_Shift_Ins INS - AAGT AAGT novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 75116508 75116509 - AAGT INS PSTPIP1 NM_003978 human genbank 54_36p 1 reviewed frame_shift_ins c.1187_1188 p.W396fs 1.000:1.000 "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" "HMMPfam_FCH,HMMSmart_SM00055,superfamily_Prismane protein-like,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors SGK269 79834 broad.mit.edu 36 15 75259106 75259106 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 75259106 75259106 C T SNP SGK269 NM_024776 human genbank 54_36p -1 validated missense c.2218 p.E740K 0.91 NULL "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_TYR" - no_errors TBC1D2B 23102 broad.mit.edu 36 15 76077690 76077690 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 76077690 76077690 C T SNP TBC1D2B NM_015079 human genbank 54_36p -1 validated missense c.2329 p.D777N 1 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors ACSBG1 23205 broad.mit.edu 36 15 76258093 76258093 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 76258093 76258093 G A SNP ACSBG1 NM_015162 human genbank 54_36p -1 reviewed silent c.1620 p.I540 0.8 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors DNAJA4 55466 broad.mit.edu 36 15 76344187 76344187 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 76344187 76344187 C A SNP DNAJA4 NM_018602 human genbank 54_36p 1 validated missense c.27 p.D9E 1 "superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ" "superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP40_DnaJ_pep,HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ_C" - no_errors PSMA4 5685 broad.mit.edu 36 15 76622003 76622003 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 76622003 76622003 A C SNP PSMA4 NM_001102667 human genbank 54_36p 1 validated missense c.170 p.D57A 1 "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome,PatternScan_PROTEASOME_B" "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome_A_N,PatternScan_PROTEASOME_A,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors CHRNA5 1138 broad.mit.edu 36 15 76667716 76667716 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 76667716 76667716 G C SNP CHRNA5 NM_000745 human genbank 54_36p 1 provisional missense c.309 p.W103C 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors CHRNA3 1136 broad.mit.edu 36 15 76680771 76680771 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 76680771 76680771 G A SNP CHRNA3 NM_000743 human genbank 54_36p -1 validated missense c.1268 p.S423F 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors ADAMTS7 11173 broad.mit.edu 36 15 76854143 76854143 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 76854143 76854143 C T SNP ADAMTS7 NM_014272 human genbank 54_36p -1 reviewed missense c.1754 p.R585H 0.95 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors RASGRF1 5923 broad.mit.edu 36 15 77079305 77079305 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 77079305 77079305 G A SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.2629 p.P877S 0.78 "superfamily_Ras GEF,HMMPfam_RasGEF_N" ############################################################################################################################################################################################################################################################### - no_errors TMED3 23423 broad.mit.edu 36 15 77393308 77393308 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 77393308 77393308 C A SNP TMED3 NM_007364 human genbank 54_36p 1 validated missense c.323 p.T108N 1 "HMMPfam_EMP24_GP25L,superfamily_SSF101576" "HMMPfam_EMP24_GP25L,superfamily_SSF101576" - no_errors KIAA1024 23251 broad.mit.edu 36 15 77536964 77536964 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 77536964 77536964 G A SNP KIAA1024 NM_015206 human genbank 54_36p 1 validated missense c.1420 p.V474M 1 NULL HMMPfam_UPF0258 - no_errors KIAA1024 23251 broad.mit.edu 36 15 77537150 77537150 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 77537150 77537150 G T SNP KIAA1024 NM_015206 human genbank 54_36p 1 validated missense c.1606 p.V536L 0.03 NULL HMMPfam_UPF0258 - no_errors ZFAND6 54469 broad.mit.edu 36 15 78202096 78202096 + Splice_Site SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 78202096 78202096 G C SNP ZFAND6 NM_019006 human genbank 54_36p 1 provisional splice_site c.264-1 e3-1 1 - - - no_errors ARNT2 9915 broad.mit.edu 36 15 78587555 78587555 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 78587555 78587555 G A SNP ARNT2 NM_014862 human genbank 54_36p 1 reviewed missense c.626 p.R209Q 1 HMMPfam_PAS "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086" - no_errors KIAA1199 57214 broad.mit.edu 36 15 78960497 78960497 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 78960497 78960497 C T SNP KIAA1199 NM_018689 human genbank 54_36p 1 validated silent c.582 p.I194 0.65 NULL HMMPfam_G8 - no_errors TMC3 342125 broad.mit.edu 36 15 79437872 79437872 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 79437872 79437872 T A SNP TMC3 NM_001080532 human genbank 54_36p -1 provisional missense c.526 p.S176C 0.99 NULL HMMPfam_TMC - no_errors AP3B2 8120 broad.mit.edu 36 15 81127729 81127729 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 81127729 81127729 G A SNP AP3B2 NM_004644 human genbank 54_36p -1 validated missense c.2861 p.A954V 1 NULL "superfamily_ARM repeat,HMMPfam_Adaptin_N" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region C15orf40 123207 broad.mit.edu 36 15 81471355 81471355 + 5'UTR SNP C C T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 81471355 81471355 C T SNP C15orf40 NM_144597 human genbank 54_36p -1 predicted 5_prime_untranslated_region c.-73 NULL 0 - - - no_errors TM6SF1 53346 broad.mit.edu 36 15 81596364 81596364 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 81596364 81596364 C T SNP TM6SF1 NM_023003 human genbank 54_36p 1 validated missense c.1049 p.A350V 1 NULL NULL - no_errors BNC1 646 broad.mit.edu 36 15 81723796 81723796 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 81723796 81723796 C T SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.1211 p.R404H 1 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors SH3GL3 6457 broad.mit.edu 36 15 82078026 82078026 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 82078026 82078026 G A SNP SH3GL3 NM_003027 human genbank 54_36p 1 validated missense c.1051 p.V351M 1 HMMSmart_SH3 "HMMSmart_BAR,HMMPfam_BAR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors ADAMTSL3 57188 broad.mit.edu 36 15 82383776 82383776 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 82383776 82383776 C A SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.2104 p.P702T 0.98 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC" - no_errors ADAMTSL3 57188 broad.mit.edu 36 15 82485191 82485191 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 82485191 82485191 G A SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.4655 p.R1552Q 0.98 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors NMB 4828 broad.mit.edu 36 15 82999553 82999553 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 82999553 82999553 C T SNP NMB NM_205858 human genbank 54_36p -1 validated silent c.417 p.K139 0.04 NULL "HMMPfam_Bombesin,PatternScan_BOMBESIN" - no_errors KLHL25 64410 broad.mit.edu 36 15 84113931 84113931 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 84113931 84113931 G A SNP KLHL25 NM_022480 human genbank 54_36p -1 validated missense c.115 p.L39F 1 "superfamily_BTB/POZ_fold,HMMPfam_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors AGBL1 123624 broad.mit.edu 36 15 84898708 84898708 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 84898708 84898708 T C SNP AGBL1 NM_152336 human genbank 54_36p 1 validated missense c.2792 p.M931T 1 HMMPfam_Peptidase_M14 "superfamily_ARM repeat,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" - no_errors AGBL1 123624 broad.mit.edu 36 15 85018599 85018599 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 85018599 85018599 G A SNP AGBL1 NM_152336 human genbank 54_36p 1 validated missense c.3011 p.S1004N 0.89 NULL "HMMPfam_Peptidase_M14,superfamily_ARM repeat,superfamily_Zn-dependent exopeptidases" - no_errors NTRK3 4916 broad.mit.edu 36 15 86277384 86277384 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 86277384 86277384 A T SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed missense c.1752 p.D584E 1 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors NTRK3 4916 broad.mit.edu 36 15 86284908 86284908 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 86284908 86284908 C A SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed nonsense c.1666 p.E556* 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" ############################################################################################################################################################################################################################################################### - no_errors ACAN 176 broad.mit.edu 36 15 87218208 87218208 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 15 87218208 87218208 C T SNP ACAN NM_013227 human genbank 54_36p 1 reviewed missense c.7123 p.R2375W 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" ############################################################################################################################################################################################################################################################### - no_errors HAPLN3 145864 broad.mit.edu 36 15 87223476 87223476 + Silent SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 87223476 87223476 G A SNP HAPLN3 NM_178232 human genbank 54_36p -1 reviewed silent c.522 p.N174 0 "HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1" - no_errors ABHD2 11057 broad.mit.edu 36 15 87535326 87535326 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 87535326 87535326 G T SNP ABHD2 NM_007011 human genbank 54_36p 1 reviewed missense c.938 p.G313V 1 "superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_UPF0017" "superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_UPF0017" - no_errors FANCI 55215 broad.mit.edu 36 15 87634458 87634458 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87634458 87634458 A G SNP FANCI NM_018193 human genbank 54_36p 1 reviewed missense c.1832 p.D611G 1 NULL NULL - no_errors FANCI 55215 broad.mit.edu 36 15 87648148 87648148 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87648148 87648148 G A SNP FANCI NM_018193 human genbank 54_36p 1 reviewed missense c.2876 p.R959Q 0.07 NULL NULL - no_errors POLG 5428 broad.mit.edu 36 15 87666204 87666204 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87666204 87666204 C T SNP POLG NM_002693 human genbank 54_36p -1 reviewed missense c.2473 p.V825M 0.99 "superfamily_SSF56672,HMMPfam_DNA_pol_A" "superfamily_SSF56672,HMMPfam_DNA_pol_A,HMMSmart_POLAc,PatternScan_DNA_POLYMERASE_A" - no_errors C15orf42 90381 broad.mit.edu 36 15 87920451 87920451 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87920451 87920451 G A SNP C15orf42 NM_152259 human genbank 54_36p 1 validated nonsense c.630 p.W210* 1 NULL NULL - no_errors C15orf42 90381 broad.mit.edu 36 15 87946051 87946051 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87946051 87946051 G A SNP C15orf42 NM_152259 human genbank 54_36p 1 validated missense c.2407 p.V803I 1 NULL NULL - no_errors C15orf42 90381 broad.mit.edu 36 15 87968095 87968095 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 87968095 87968095 G A SNP C15orf42 NM_152259 human genbank 54_36p 1 validated missense c.3550 p.E1184K 0 NULL NULL - no_errors C15orf42 90381 broad.mit.edu 36 15 87968998 87968998 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87968998 87968998 G C SNP C15orf42 NM_152259 human genbank 54_36p 1 validated missense c.4453 p.V1485L 0 NULL NULL - no_errors C15orf42 90381 broad.mit.edu 36 15 87969337 87969337 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 87969337 87969337 G T SNP C15orf42 NM_152259 human genbank 54_36p 1 validated nonsense c.4792 p.E1598* 0.44 NULL NULL - no_errors WDR93 56964 broad.mit.edu 36 15 88077313 88077313 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 88077313 88077313 C A SNP WDR93 NM_020212 human genbank 54_36p 1 provisional nonsense c.1403 p.S468* 0.01 superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase "superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase,PatternScan_WD_REPEATS_1" - no_errors ANPEP 290 broad.mit.edu 36 15 88136751 88136751 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 88136751 88136751 G A SNP ANPEP NM_001150 human genbank 54_36p -1 reviewed missense c.2296 p.P766S 0 NULL "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE" - no_errors ANPEP 290 broad.mit.edu 36 15 88150536 88150536 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 88150536 88150536 G A SNP ANPEP NM_001150 human genbank 54_36p -1 reviewed missense c.283 p.P95S 0.29 "HMMPfam_Peptidase_M1,superfamily_SSF63737" "PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M1,superfamily_SSF55486,superfamily_SSF63737" - no_errors AP3S2 10239 broad.mit.edu 36 15 88215757 88215757 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 88215757 88215757 C T SNP AP3S2 NM_005829 human genbank 54_36p -1 validated missense c.299 p.C100Y 1 "HMMPfam_Clat_adaptor_s,superfamily_SNARE-like" "HMMPfam_Clat_adaptor_s,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_S" - no_errors C15orf38 348110 broad.mit.edu 36 15 88257022 88257022 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 88257022 88257022 C T SNP C15orf38 NM_182616 human genbank 54_36p -1 validated missense c.50 p.S17N 0.5 HMMPfam_UPF0552 HMMPfam_UPF0552 - no_errors ZNF710 374655 broad.mit.edu 36 15 88418450 88418450 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 88418450 88418450 G T SNP ZNF710 NM_198526 human genbank 54_36p 1 provisional missense c.1749 p.K583N 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SEMA4B 10509 broad.mit.edu 36 15 88561767 88561767 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 88561767 88561767 G A SNP SEMA4B NM_020210 human genbank 54_36p 1 validated missense c.250 p.V84M 1 "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat" - no_errors IQGAP1 8826 broad.mit.edu 36 15 88830276 88830276 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 88830276 88830276 A G SNP IQGAP1 NM_003870 human genbank 54_36p 1 reviewed missense c.3932 p.D1311G 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00323" ############################################################################################################################################################################################################################################################### - no_errors BLM 641 broad.mit.edu 36 15 89091715 89091715 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89091715 89091715 C G SNP BLM NM_000057 human genbank 54_36p 1 reviewed missense c.89 p.P30R 0.66 NULL "HMMPfam_BDHCT,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_RQC,superfamily_HRDC_like,HMMSmart_HRDC,HMMPfam_HRDC" - no_errors BLM 641 broad.mit.edu 36 15 89093757 89093757 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 89093757 89093757 G T SNP BLM NM_000057 human genbank 54_36p 1 reviewed missense c.255 p.R85S 0 NULL "HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HRDC,HMMSmart_HRDC,PatternScan_DEAH_ATP_HELICASE,superfamily_HRDC_like,HMMPfam_DEAD,HMMPfam_BDHCT,HMMSmart_DEXDc,HMMPfam_RQC,superfamily_SSF52540" - no_errors BLM 641 broad.mit.edu 36 15 89113754 89113754 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 89113754 89113754 C T SNP BLM NM_000057 human genbank 54_36p 1 reviewed missense c.2489 p.T830M 1 "HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540" "HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HRDC,HMMSmart_HRDC,PatternScan_DEAH_ATP_HELICASE,superfamily_HRDC_like,HMMPfam_DEAD,HMMPfam_BDHCT,HMMSmart_DEXDc,HMMPfam_RQC,superfamily_SSF52540" - no_errors BLM 641 broad.mit.edu 36 15 89153454 89153454 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 89153454 89153454 A G SNP BLM NM_000057 human genbank 54_36p 1 reviewed missense c.3835 p.I1279V 1 "HMMPfam_HRDC,HMMSmart_HRDC" "HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HRDC,HMMSmart_HRDC,PatternScan_DEAH_ATP_HELICASE,superfamily_HRDC_like,HMMPfam_DEAD,HMMPfam_BDHCT,HMMSmart_DEXDc,HMMPfam_RQC,superfamily_SSF52540" - no_errors FURIN 5045 broad.mit.edu 36 15 89225877 89225902 + Frame_Shift_Del DEL TGGCCGGCCTCAGCTGCGCCTTCATC - TGGCCGGCCTCAGCTGCGCCTTCATC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TGGCCGGCCTCAGCTGCGCCTTCATC TGGCCGGCCTCAGCTGCGCCTTCATC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 15 89225877 89225902 TGGCCGGCCTCAGCTGCGCCTTCATC - DEL FURIN NM_002569 human genbank 54_36p 1 reviewed frame_shift_del c.2150_2175 p.V717fs 1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000 NULL "superfamily_Prot_inh_propept,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Gal_bind_like,HMMPfam_P_proprotein,HMMSmart_FU,superfamily_Grow_fac_recept" "(deletion:cds_exon[89225520,89226112])" no_errors FES 2242 broad.mit.edu 36 15 89229808 89229808 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89229808 89229808 G C SNP FES NM_002005 human genbank 54_36p 1 reviewed missense c.376 p.E126Q 1 NULL "HMMPfam_FCH,HMMSmart_SM00055,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors FES 2242 broad.mit.edu 36 15 89237893 89237894 + Missense_Mutation DNP TG TG CC novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89237893 89237894 TG CC DNP FES NM_002005 human genbank 54_36p 1 reviewed missense c.2051_2052 p.L684P 1.000:1.000 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like)" "HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_SH2 domain" - no_errors FES 2242 broad.mit.edu 36 15 89238176 89238176 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89238176 89238176 A G SNP FES NM_002005 human genbank 54_36p 1 reviewed missense c.2210 p.Y737C 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" "HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_SH2 domain" - no_errors MAN2A2 4122 broad.mit.edu 36 15 89250628 89250628 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89250628 89250628 G T SNP MAN2A2 NM_006122 human genbank 54_36p 1 validated missense c.732 p.E244D 1 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors MAN2A2 4122 broad.mit.edu 36 15 89255192 89255192 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89255192 89255192 A C SNP MAN2A2 NM_006122 human genbank 54_36p 1 validated missense c.1872 p.Q624H 0.99 superfamily_Gal_mut_like "HMMPfam_Glyco_hydro_38,superfamily_Gal_mut_like,superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38C,HMMPfam_Alpha-mann_mid,superfamily_SSF88688" - no_errors HDDC3 374659 broad.mit.edu 36 15 89275983 89275983 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 89275983 89275983 C G SNP HDDC3 NM_198527 human genbank 54_36p -1 provisional missense c.364 p.D122H 1 "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_HD" "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_HD" - no_errors UNC45A 55898 broad.mit.edu 36 15 89286832 89286832 + Silent SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89286832 89286832 C T SNP UNC45A NM_018671 human genbank 54_36p 1 validated silent c.849 p.I283 0.92 superfamily_ARM repeat "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_2,superfamily_ARM repeat" - no_errors UNC45A 55898 broad.mit.edu 36 15 89293649 89293649 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 89293649 89293649 A G SNP UNC45A NM_018671 human genbank 54_36p 1 validated missense c.1978 p.T660A 1 superfamily_ARM repeat "HMMPfam_TPR_1,HMMPfam_TPR_2,superfamily_ARM repeat,HMMSmart_SM00028,superfamily_TPR-like" - no_errors PRC1 9055 broad.mit.edu 36 15 89325231 89325231 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 89325231 89325231 C G SNP PRC1 NM_003981 human genbank 54_36p -1 reviewed missense c.709 p.E237Q 1 HMMPfam_MAP65_ASE1 HMMPfam_MAP65_ASE1 - no_errors SV2B 9899 broad.mit.edu 36 15 89602662 89602662 + Silent SNP C C T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 89602662 89602662 C T SNP SV2B NM_014848 human genbank 54_36p 1 validated silent c.792 p.G264 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SV2B 9899 broad.mit.edu 36 15 89610891 89610891 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 89610891 89610891 C T SNP SV2B NM_014848 human genbank 54_36p 1 validated missense c.1084 p.R362C 1 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors C15orf32 145858 broad.mit.edu 36 15 90816584 90816584 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 90816584 90816584 C T SNP C15orf32 NM_153040 human genbank 54_36p 1 predicted missense c.202 p.H68Y 0.02 NULL NULL - no_errors MCTP2 55784 broad.mit.edu 36 15 92711912 92711912 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 92711912 92711912 G T SNP MCTP2 NM_018349 human genbank 54_36p 1 provisional missense c.1376 p.G459V 0.84 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors NR2F2 7026 broad.mit.edu 36 15 94676663 94676663 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 94676663 94676663 A T SNP NR2F2 NM_021005 human genbank 54_36p 1 validated missense c.325 p.R109W 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMPfam_zf-C4_C,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors IGF1R 3480 broad.mit.edu 36 15 97290401 97290401 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 15 97290401 97290401 C A SNP IGF1R NM_000875 human genbank 54_36p 1 reviewed missense c.2874 p.F958L 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SYNM 23336 broad.mit.edu 36 15 97471387 97471387 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 97471387 97471387 C T SNP SYNM NM_145728 human genbank 54_36p 1 reviewed missense c.878 p.T293I 0.96 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SYNM 23336 broad.mit.edu 36 15 97487291 97487291 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 97487291 97487291 G A SNP SYNM NM_145728 human genbank 54_36p 1 reviewed missense c.1202 p.R401Q 0 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SYNM 23336 broad.mit.edu 36 15 97489440 97489440 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 97489440 97489440 G C SNP SYNM ENST00000336292 human ensembl 54_36p 1 known missense c.3349 p.E1117Q 0.19 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors SYNM 23336 broad.mit.edu 36 15 97489608 97489608 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 97489608 97489608 G T SNP SYNM ENST00000336292 human ensembl 54_36p 1 known missense c.3517 p.V1173F 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors SYNM 23336 broad.mit.edu 36 15 97490428 97490428 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 15 97490428 97490428 C G SNP SYNM ENST00000336292 human ensembl 54_36p 1 known missense c.4337 p.T1446R 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors MEF2A 4205 broad.mit.edu 36 15 98068481 98068481 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 98068481 98068481 T A SNP MEF2A NM_005587 human genbank 54_36p 1 validated missense c.1135 p.S379T 1 NULL "HMMSmart_SM00432,superfamily_SRF-like,PatternScan_MADS_BOX_1,HMMPfam_SRF-TF" - no_errors ADAMTS17 170691 broad.mit.edu 36 15 98620093 98620093 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 98620093 98620093 A C SNP ADAMTS17 NM_139057 human genbank 54_36p -1 reviewed missense c.860 p.L287R 0.99 superfamily_Metalloproteases (zincins) catalytic domain "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors LASS3 204219 broad.mit.edu 36 15 98842345 98842345 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 98842345 98842345 C A SNP LASS3 NM_178842 human genbank 54_36p -1 validated nonsense c.340 p.E114* 0.98 "superfamily_Homeodomain-like,HMMPfam_Homeobox,HMMSmart_SM00389" "superfamily_Homeodomain-like,HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" - no_errors LRRK1 79705 broad.mit.edu 36 15 99410657 99410657 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 99410657 99410657 C G SNP LRRK1 NM_024652 human genbank 54_36p 1 validated missense c.3697 p.L1233V 0.98 superfamily_Protein kinase-like (PK-like) ############################################################################################################################################################################################################################################################### - no_errors LRRK1 79705 broad.mit.edu 36 15 99412822 99412822 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 99412822 99412822 G C SNP LRRK1 NM_024652 human genbank 54_36p 1 validated missense c.4203 p.E1401D 0.27 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors SELS 55829 broad.mit.edu 36 15 99630502 99630502 + Silent SNP G G C novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 99630502 99630502 G C SNP SELS NM_018445 human genbank 54_36p -1 reviewed silent c.567 p.G189 1 NULL HMMPfam_Selenoprotein_S - pseudogene MPG 4350 broad.mit.edu 36 16 75510 75510 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 75510 75510 G T SNP MPG NM_002434 human genbank 54_36p 1 validated missense c.631 p.D211Y 1 "superfamily_FMT C-terminal domain-like,HMMPfam_Pur_DNA_glyco" "superfamily_FMT C-terminal domain-like,HMMPfam_Pur_DNA_glyco" - no_errors NPRL3 8131 broad.mit.edu 36 16 82697 82697 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 82697 82697 G C SNP C16orf35 ENST00000262313 human ensembl 54_36p -1 known missense c.1058 p.S353C 1 HMMPfam_UPF0171 "HMMPfam_UPF0171,superfamily_Galactose-binding domain-like" - no_errors NPRL3 8131 broad.mit.edu 36 16 90411 90411 + Silent SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 90411 90411 C T SNP C16orf35 ENST00000262313 human ensembl 54_36p -1 known silent c.726 p.L242 1 HMMPfam_UPF0171 "HMMPfam_UPF0171,superfamily_Galactose-binding domain-like" - no_errors ITFG3 83986 broad.mit.edu 36 16 253326 253333 + Frame_Shift_Del DEL GGCTCAGA - GGCTCAGA novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W GGCTCAGA GGCTCAGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 253326 253333 GGCTCAGA - DEL ITFG3 NM_032039 human genbank 54_36p 1 validated frame_shift_del c.1036_1043 p.S347fs 0.000:0.000:0.000:0.000:0.001:0.000:0.004:0.006 NULL NULL "(deletion:cds_exon[253262,253402])" no_errors AXIN1 8312 broad.mit.edu 36 16 283557 283557 + Silent SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 283557 283557 C T SNP AXIN1 NM_003502 human genbank 54_36p -1 reviewed silent c.2118 p.Q706 1 NULL "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,HMMPfam_Axin_b-cat_bind,HMMPfam_DIX,HMMSmart_SM00021" - no_errors C16orf11 146325 broad.mit.edu 36 16 553413 553414 + Missense_Mutation DNP TT TT CC novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 553413 553414 TT CC DNP C16orf11 NM_145270 human genbank 54_36p 1 predicted missense c.118_119 p.F40P 1.000:1.000 NULL NULL - no_errors WDR90 197335 broad.mit.edu 36 16 643656 643657 + Missense_Mutation DNP TT TT CC novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 643656 643657 TT CC DNP WDR90 NM_145294 human genbank 54_36p 1 provisional missense c.1364_1365 p.V455A 0.001:0.000 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors WDR90 197335 broad.mit.edu 36 16 645066 645066 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 645066 645066 G A SNP WDR90 NM_145294 human genbank 54_36p 1 provisional missense c.1474 p.G492S 0.6 "HMMSmart_SM00320,superfamily_WD40 repeat-like" "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors JMJD8 339123 broad.mit.edu 36 16 673195 673195 + Silent SNP C C A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 673195 673195 C A SNP JMJD8 NM_001005920 human genbank 54_36p -1 validated silent c.615 p.G205 0.95 superfamily_Clavaminate synthase-like superfamily_Clavaminate synthase-like - no_errors FBXL16 146330 broad.mit.edu 36 16 685880 685880 + Silent SNP C C G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 685880 685880 C G SNP FBXL16 NM_153350 human genbank 54_36p -1 provisional silent c.678 p.S226 0.44 superfamily_SSF52047 "superfamily_SSF81383,superfamily_SSF52047" - no_errors MSLNL 401827 broad.mit.edu 36 16 762928 762928 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 762928 762928 A T SNP MSLNL NM_001025190 human genbank 54_36p -1 provisional missense c.2258 p.L753Q 0.98 HMMPfam_Mesothelin HMMPfam_Mesothelin - no_errors MSLNL 401827 broad.mit.edu 36 16 770434 770434 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 770434 770434 G T SNP MSLNL NM_001025190 human genbank 54_36p -1 provisional missense c.568 p.R190S 0.01 NULL HMMPfam_Mesothelin - no_errors GNG13 51764 broad.mit.edu 36 16 789055 789055 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 789055 789055 C G SNP GNG13 NM_016541 human genbank 54_36p -1 validated missense c.24 p.Q8H 1 "superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL" "superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL" - no_errors LMF1 64788 broad.mit.edu 36 16 869648 869648 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 869648 869648 C T SNP LMF1 NM_022773 human genbank 54_36p -1 validated missense c.820 p.E274K 1 HMMPfam_DUF1222 HMMPfam_DUF1222 - no_errors CACNA1H 8912 broad.mit.edu 36 16 1190530 1190530 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1190530 1190530 C T SNP CACNA1H NM_021098 human genbank 54_36p 1 reviewed silent c.1077 p.I359 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CACNA1H 8912 broad.mit.edu 36 16 1200487 1200487 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1200487 1200487 G T SNP CACNA1H NM_021098 human genbank 54_36p 1 reviewed missense c.3962 p.G1321V 0.54 superfamily_Voltage-gated potassium channels "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors C16orf91 283951 broad.mit.edu 36 16 1419278 1419278 + Silent SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1419278 1419278 C A SNP C16orf91 NM_001010878 human genbank 54_36p -1 predicted silent c.69 p.G23 0.01 NULL NULL - no_errors TELO2 9894 broad.mit.edu 36 16 1489266 1489266 + Silent SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1489266 1489266 G A SNP TELO2 NM_016111 human genbank 54_36p 1 reviewed silent c.864 p.L288 1 NULL HMMPfam_Telomere_reg-2 - no_errors IFT140 9742 broad.mit.edu 36 16 1514867 1514867 + Silent SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1514867 1514867 G A SNP IFT140 NM_014714 human genbank 54_36p -1 validated silent c.2916 p.D972 0 superfamily_TPR-like "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_TPR-like" - no_errors TMEM204 79652 broad.mit.edu 36 16 1524303 1524303 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1524303 1524303 C T SNP TMEM204 NM_024600 human genbank 54_36p 1 provisional missense c.26 p.A9V 0.18 NULL NULL - no_errors IFT140 9742 broad.mit.edu 36 16 1574422 1574422 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1574422 1574422 A C SNP IFT140 NM_014714 human genbank 54_36p -1 validated missense c.1156 p.W386G 1 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40,superfamily_TPR-like" - no_errors IFT140 9742 broad.mit.edu 36 16 1576198 1576198 + Silent SNP T T G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 1576198 1576198 T G SNP IFT140 NM_014714 human genbank 54_36p -1 validated silent c.1089 p.A363 0.01 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40,superfamily_TPR-like" - no_errors MAPK8IP3 23162 broad.mit.edu 36 16 1757828 1757828 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1757828 1757828 C T SNP MAPK8IP3 NM_015133 human genbank 54_36p 1 reviewed missense c.3428 p.S1143F 1 NULL "HMMPfam_Jnk-SapK_ap_N,superfamily_WD40 repeat-like" - no_errors FAHD1 81889 broad.mit.edu 36 16 1817674 1817674 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1817674 1817674 T G SNP FAHD1 NM_001018104 human genbank 54_36p 1 validated missense c.443 p.L148R 1 "superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase" "superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase" - no_errors FAHD1 81889 broad.mit.edu 36 16 1817887 1817888 + Missense_Mutation DNP TG TG CT novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1817887 1817888 TG CT DNP FAHD1 NM_031208 human genbank 54_36p 1 validated missense c.656_657 p.V219A 0.998:0.894 "HMMPfam_FAA_hydrolase,superfamily_FAH" "HMMPfam_FAA_hydrolase,superfamily_FAH" - no_errors TBL3 10607 broad.mit.edu 36 16 1964217 1964217 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 1964217 1964217 C T SNP TBL3 NM_006453 human genbank 54_36p 1 reviewed missense c.112 p.H38Y 0.94 NULL "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_Utp13" - no_errors NTHL1 4913 broad.mit.edu 36 16 2030019 2030019 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2030019 2030019 C T SNP NTHL1 NM_002528 human genbank 54_36p -1 reviewed silent c.846 p.L282 1 "superfamily_DNA_glycsylse,HMMSmart_ENDO3c" "PatternScan_ENDONUCLEASE_III_1,superfamily_DNA_glycsylse,HMMPfam_HhH-GPD,HMMSmart_ENDO3c,HMMPfam_HHH,PatternScan_ENDONUCLEASE_III_2,HMMSmart_FES" - no_errors TSC2 7249 broad.mit.edu 36 16 2069154 2069154 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 2069154 2069154 G T SNP TSC2 NM_000548 human genbank 54_36p 1 reviewed missense c.3087 p.M1029I 1 NULL "superfamily_ARM repeat,HMMPfam_Tuberin,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" - no_errors TRAF7 84231 broad.mit.edu 36 16 2163968 2163968 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 2163968 2163968 G A SNP TRAF7 NM_032271 human genbank 54_36p 1 validated missense c.1181 p.G394D 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,HMMPfam_zf-TRAF,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CASKIN1 57524 broad.mit.edu 36 16 2175362 2175362 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2175362 2175362 G A SNP CASKIN1 NM_020764 human genbank 54_36p -1 provisional missense c.1097 p.S366L 0.02 superfamily_SH3 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_1" - no_errors CASKIN1 57524 broad.mit.edu 36 16 2179082 2179082 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2179082 2179082 G C SNP CASKIN1 NM_020764 human genbank 54_36p -1 provisional missense c.564 p.N188K 0.91 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_SAM_homology" - no_errors RNPS1 10921 broad.mit.edu 36 16 2245709 2245709 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2245709 2245709 C A SNP RNPS1 NM_006711 human genbank 54_36p -1 reviewed missense c.696 p.E232D 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ABCA3 21 broad.mit.edu 36 16 2287485 2287485 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 2287485 2287485 G C SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.2109 p.I703M 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors PDPK1 5170 broad.mit.edu 36 16 2587125 2587125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 2587125 2587125 G C SNP PDPK1 NM_002613 human genbank 54_36p 1 validated missense c.1402 p.G468R 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SRRM2 23524 broad.mit.edu 36 16 2746459 2746459 + Silent SNP T T G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2746459 2746459 T G SNP SRRM2 NM_016333 human genbank 54_36p 1 validated silent c.93 p.G31 1 NULL HMMPfam_cwf21 - no_errors SRRM2 23524 broad.mit.edu 36 16 2752192 2752192 + Silent SNP T T A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2752192 2752192 T A SNP SRRM2 NM_016333 human genbank 54_36p 1 validated silent c.1662 p.S554 1 NULL HMMPfam_cwf21 - no_errors SRRM2 23524 broad.mit.edu 36 16 2753348 2753348 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 2753348 2753348 A G SNP SRRM2 NM_016333 human genbank 54_36p 1 validated missense c.2818 p.R940G 0.99 NULL HMMPfam_cwf21 - no_errors SRRM2 23524 broad.mit.edu 36 16 2753699 2753700 + Frame_Shift_Ins INS - TG - novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2753699 2753700 - TG INS SRRM2 NM_016333 human genbank 54_36p 1 validated frame_shift_ins c.3169_3170 p.K1058fs 0.980:0.917 NULL HMMPfam_cwf21 - no_errors PRSS21 10942 broad.mit.edu 36 16 2811384 2811384 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 2811384 2811384 C G SNP PRSS21 NM_006799 human genbank 54_36p 1 reviewed missense c.722 p.P241R 1 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors ZG16B 124220 broad.mit.edu 36 16 2821991 2821991 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 2821991 2821991 T C SNP ZG16B NM_145252 human genbank 54_36p 1 validated missense c.457 p.S153P 0 superfamily_Mannose-bd_lectin superfamily_Mannose-bd_lectin - no_errors FLYWCH2 114984 broad.mit.edu 36 16 2889112 2889112 + Silent SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2889112 2889112 C T SNP FLYWCH2 NM_138439 human genbank 54_36p 1 validated silent c.384 p.N128 0 NULL NULL - no_errors PAQR4 124222 broad.mit.edu 36 16 2961897 2961898 + Missense_Mutation DNP GG GG CT novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2961897 2961898 GG CT DNP PAQR4 NM_152341 human genbank 54_36p 1 validated missense c.769_770 p.G257L 1.000:1.000 NULL HMMPfam_HlyIII - no_errors PKMYT1 9088 broad.mit.edu 36 16 2964085 2964085 + Silent SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 2964085 2964085 C T SNP PKMYT1 NM_004203 human genbank 54_36p -1 reviewed silent c.1227 p.P409 0.17 NULL "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CLDN6 9074 broad.mit.edu 36 16 3005621 3005621 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 3005621 3005621 G C SNP CLDN6 NM_021195 human genbank 54_36p -1 validated missense c.403 p.P135A 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors ZSCAN10 84891 broad.mit.edu 36 16 3079671 3079671 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 3079671 3079671 G A SNP ZSCAN10 NM_032805 human genbank 54_36p -1 provisional missense c.1600 p.R534C 0.03 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF213 7760 broad.mit.edu 36 16 3130723 3130723 + Silent SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 3130723 3130723 C T SNP ZNF213 NM_004220 human genbank 54_36p 1 validated silent c.754 p.L252 0 HMMSmart_SM00349 "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MEFV 4210 broad.mit.edu 36 16 3233272 3233272 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 3233272 3233272 T G SNP MEFV NM_000243 human genbank 54_36p -1 reviewed missense c.2216 p.H739P 0.33 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors MEFV 4210 broad.mit.edu 36 16 3239757 3239757 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 3239757 3239757 C A SNP MEFV NM_000243 human genbank 54_36p -1 reviewed missense c.935 p.S312I 0.82 NULL "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMPfam_PAAD_DAPIN,HMMSmart_SM00589,superfamily_DEATH domain,HMMSmart_SM00449,superfamily_B-box zinc-binding domain" - no_errors OR2C1 4993 broad.mit.edu 36 16 3346250 3346250 + Silent SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3346250 3346250 C T SNP OR2C1 NM_012368 human genbank 54_36p 1 validated silent c.309 p.V103 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF434 54925 broad.mit.edu 36 16 3374789 3374789 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3374789 3374789 G A SNP ZNF434 NM_017810 human genbank 54_36p -1 provisional missense c.269 p.T90I 0.03 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF434 54925 broad.mit.edu 36 16 3380121 3380121 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3380121 3380121 C T SNP ZNF434 NM_017810 human genbank 54_36p -1 provisional missense c.5 p.R2H 0.58 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF597 146434 broad.mit.edu 36 16 3427015 3427015 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 3427015 3427015 G A SNP ZNF597 NM_152457 human genbank 54_36p -1 provisional nonsense c.685 p.R229* 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NLRC3 197358 broad.mit.edu 36 16 3538161 3538161 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3538161 3538161 G C SNP NLRC3 ENST00000301749 human ensembl 54_36p -1 known missense c.2884 p.L962V 1 "superfamily_RNI-like,HMMSmart_SM00368" "PatternScan_LIPOCALIN,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRC3 197358 broad.mit.edu 36 16 3538756 3538756 + Splice_Site SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3538756 3538756 T C SNP NLRC3 ENST00000301749 human ensembl 54_36p -1 known splice_site c.2742-2 e13-2 0.88 - - - no_errors CREBBP 1387 broad.mit.edu 36 16 3726811 3726811 + Silent SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3726811 3726811 C G SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed silent c.4401 p.V1467 0.99 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors CREBBP 1387 broad.mit.edu 36 16 3728597 3728597 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3728597 3728597 A G SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.4358 p.I1453T 1 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors ADCY9 115 broad.mit.edu 36 16 3956250 3956250 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 16 3956250 3956250 T C SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed missense c.3589 p.M1197V 1 "HMMSmart_SM00044,HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1" "HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY9 115 broad.mit.edu 36 16 3982225 3982225 + Silent SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 3982225 3982225 C T SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed silent c.2130 p.S710 1 NULL "HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1" - no_errors ADCY9 115 broad.mit.edu 36 16 4104976 4104976 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 4104976 4104976 C A SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed missense c.469 p.V157L 0.9 NULL "HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1" - no_errors SRL 6345 broad.mit.edu 36 16 4182678 4182678 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4182678 4182678 G A SNP SRL NM_001098814 human genbank 54_36p -1 validated missense c.899 p.P300L 0.99 superfamily_SSF52540 superfamily_SSF52540 - no_errors SRL 6345 broad.mit.edu 36 16 4194548 4194548 + Silent SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4194548 4194548 G A SNP SRL NM_001098814 human genbank 54_36p -1 validated silent c.150 p.S50 0.02 NULL superfamily_SSF52540 - no_errors DNAJA3 9093 broad.mit.edu 36 16 4431521 4431521 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4431521 4431521 G A SNP DNAJA3 NM_005147 human genbank 54_36p 1 validated missense c.574 p.E192K 1 superfamily_DnaJ_N "superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ_CXXCXGXG,HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep" - no_errors DNAJA3 9093 broad.mit.edu 36 16 4433164 4433164 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4433164 4433164 C T SNP DNAJA3 NM_005147 human genbank 54_36p 1 validated missense c.929 p.A310V 1 HMMPfam_DnaJ_C "HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N,HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep,PatternScan_DNAJ_1" - no_errors MGRN1 23295 broad.mit.edu 36 16 4640457 4640457 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 4640457 4640457 T G SNP MGRN1 NM_015246 human genbank 54_36p 1 validated missense c.179 p.L60R 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors MGRN1 23295 broad.mit.edu 36 16 4658286 4658286 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4658286 4658286 C T SNP MGRN1 NM_015246 human genbank 54_36p 1 validated missense c.698 p.S233F 1 NULL "HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors ROGDI 79641 broad.mit.edu 36 16 4791546 4791546 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4791546 4791546 C T SNP ROGDI NM_024589 human genbank 54_36p -1 provisional silent c.159 p.E53 1 HMMPfam_Rogdi_lz HMMPfam_Rogdi_lz - no_errors PPL 5493 broad.mit.edu 36 16 4875454 4875459 + In_Frame_Del DEL GCCTCC - - novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 GCCTCC GCCTCC - - GCCTCC GCCTCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 16 4875454 4875459 GCCTCC - DEL PPL NM_002705 human genbank 54_36p -1 reviewed in_frame_del c.3203_3198 p.AE1068in_frame_del 0.149:0.185:0.514:0.965:0.988:0.996 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" "(deletion:cds_exon[4873386,4876049])" no_errors PPL 5493 broad.mit.edu 36 16 4880198 4880198 + Silent SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 4880198 4880198 C T SNP PPL NM_002705 human genbank 54_36p -1 reviewed silent c.2301 p.L767 1 "superfamily_Spectrin repeat,HMMSmart_SM00150" "HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin" - no_errors ALG1 56052 broad.mit.edu 36 16 5071002 5071002 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 5071002 5071002 A G SNP ALG1 NM_019109 human genbank 54_36p 1 reviewed missense c.1016 p.Q339R 0.92 "superfamily_SSF53756,HMMPfam_Glycos_transf_1" "superfamily_SSF53756,HMMPfam_Glycos_transf_1" - no_errors RBFOX1 54715 broad.mit.edu 36 16 7620669 7620669 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 7620669 7620669 T C SNP A2BP1 NM_145891 human genbank 54_36p 1 reviewed missense c.800 p.L267P 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors PMM2 5373 broad.mit.edu 36 16 8803258 8803258 + Silent SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 8803258 8803258 G A SNP PMM2 NM_000303 human genbank 54_36p 1 reviewed silent c.168 p.L56 1 "superfamily_HAD-like,HMMPfam_PMM" "superfamily_HAD-like,HMMPfam_PMM" - no_errors USP7 7874 broad.mit.edu 36 16 8921759 8921759 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 8921759 8921759 G A SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.569 p.T190I 1 "superfamily_Traf_like,HMMPfam_MATH" "superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors TEKT5 146279 broad.mit.edu 36 16 10628963 10628963 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 10628963 10628963 G A SNP TEKT5 NM_144674 human genbank 54_36p -1 provisional missense c.1436 p.P479L 0.99 NULL HMMPfam_Tektin - no_errors TEKT5 146279 broad.mit.edu 36 16 10628965 10628965 + Silent SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 10628965 10628965 G A SNP TEKT5 NM_144674 human genbank 54_36p -1 provisional silent c.1434 p.T478 0.98 NULL HMMPfam_Tektin - no_errors NUBP1 4682 broad.mit.edu 36 16 10758121 10758121 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 10758121 10758121 G C SNP NUBP1 NM_002484 human genbank 54_36p 1 validated missense c.434 p.R145T 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_MRP,HMMPfam_ParA" - no_errors CLEC16A 23274 broad.mit.edu 36 16 11179928 11179928 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 11179928 11179928 C A SNP CLEC16A NM_015226 human genbank 54_36p 1 validated missense c.3042 p.D1014E 0.94 NULL "HMMPfam_FPL,PatternScan_C_TYPE_LECTIN_1" - no_errors C16orf75 116028 broad.mit.edu 36 16 11352077 11352077 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 11352077 11352077 C T SNP C16orf75 NM_152308 human genbank 54_36p 1 predicted missense c.373 p.L125F 0.97 NULL NULL - no_errors ZC3H7A 29066 broad.mit.edu 36 16 11765003 11765003 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 11765003 11765003 T C SNP ZC3H7A NM_014153 human genbank 54_36p -1 provisional missense c.1834 p.I612V 1 NULL "superfamily_TPR-like,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZC3H7A 29066 broad.mit.edu 36 16 11768901 11768901 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 11768901 11768901 G C SNP ZC3H7A NM_014153 human genbank 54_36p -1 provisional missense c.1395 p.N465K 0.96 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356,PatternScan_ZINC_FINGER_C2H2_1,superfamily_TPR-like,superfamily_CCCH zinc finger" - no_errors GSPT1 2935 broad.mit.edu 36 16 11888276 11888276 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 11888276 11888276 C T SNP GSPT1 NM_002094 human genbank 54_36p -1 validated missense c.557 p.R186K 1 "superfamily_SSF52540,HMMPfam_GTP_EFTU" "superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C" - no_errors SNX29 92017 broad.mit.edu 36 16 12479143 12479143 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 12479143 12479143 C T SNP SNX29 NM_001080530 human genbank 54_36p 1 provisional missense c.949 p.H317Y 1 "superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX" "superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX" - no_errors ERCC4 2072 broad.mit.edu 36 16 13936661 13936661 + Silent SNP C C T novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 13936661 13936661 C T SNP ERCC4 NM_005236 human genbank 54_36p 1 reviewed silent c.1371 p.D457 0.01 NULL "superfamily_Restrict_endonuc_II-like_core,HMMPfam_ERCC4" - no_errors ERCC4 2072 broad.mit.edu 36 16 13937037 13937037 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 13937037 13937037 G A SNP ERCC4 NM_005236 human genbank 54_36p 1 reviewed missense c.1747 p.A583T 1 NULL "HMMPfam_ERCC4,superfamily_Restrict_endonuc_II-like_core" - no_errors ERCC4 2072 broad.mit.edu 36 16 13949294 13949294 + Silent SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 13949294 13949294 C T SNP ERCC4 NM_005236 human genbank 54_36p 1 reviewed silent c.2340 p.S780 0.89 superfamily_Restrict_endonuc_II-like_core "HMMPfam_ERCC4,superfamily_Restrict_endonuc_II-like_core" - no_errors MKL2 57496 broad.mit.edu 36 16 14248352 14248352 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 14248352 14248352 G C SNP MKL2 NM_014048 human genbank 54_36p 1 validated missense c.1734 p.E578D 1 NULL "HMMSmart_RPEL,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" - no_errors PARN 5073 broad.mit.edu 36 16 14438116 14438116 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 14438116 14438116 T A SNP PARN NM_002582 human genbank 54_36p -1 reviewed missense c.1879 p.N627Y 0.02 NULL "HMMPfam_CAF1,superfamily_Ribonuclease H-like,superfamily_R3H domain,HMMPfam_R3H,superfamily_RNA-binding domain RBD,HMMPfam_RNA_bind" - no_errors BFAR 51283 broad.mit.edu 36 16 14651187 14651187 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 14651187 14651187 G A SNP BFAR NM_016561 human genbank 54_36p 1 provisional missense c.494 p.S165N 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors NOMO1 23420 broad.mit.edu 36 16 14868039 14868039 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 14868039 14868039 C T SNP NOMO1 NM_014287 human genbank 54_36p 1 reviewed missense c.1796 p.A599V 1 NULL "superfamily_Starch-binding domain-like,HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain" - no_errors NOMO1 23420 broad.mit.edu 36 16 14888154 14888154 + Silent SNP A A C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 14888154 14888154 A C SNP NOMO1 NM_014287 human genbank 54_36p 1 reviewed silent c.3258 p.P1086 0.99 NULL "HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain,superfamily_Starch-binding domain-like" - no_errors RRN3 54700 broad.mit.edu 36 16 15076216 15076216 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 15076216 15076216 C T SNP RRN3 NM_018427 human genbank 54_36p -1 validated missense c.862 p.E288K 1 HMMPfam_RRN3 HMMPfam_RRN3 - no_errors KIAA0430 9665 broad.mit.edu 36 16 15612940 15612959 + Splice_Site DEL ATCAACTCACCAGTGATAAG - ATCAACTCACCAGTGATAAG novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 ATCAACTCACCAGTGATAAG ATCAACTCACCAGTGATAAG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 15612940 15612959 ATCAACTCACCAGTGATAAG - DEL KIAA0430 NM_014647 human genbank 54_36p -1 validated splice_site_del c.3617+11_3617+1 e18-1 0.000:0.003:0.004:0.181:0.988:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.999:1.000 - - "(deletion:intron[15612467,15612949], cds_exon[15612950,15613092])" no_errors MYH11 4629 broad.mit.edu 36 16 15749460 15749460 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 15749460 15749460 G A SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.2146 p.R716C 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH11 4629 broad.mit.edu 36 16 15751539 15751539 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 15751539 15751539 G A SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.2036 p.T679M 0.96 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH11 4629 broad.mit.edu 36 16 15751638 15751638 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 15751638 15751638 A C SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.1937 p.L646R 0.99 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors ABCC1 4363 broad.mit.edu 36 16 16104033 16104033 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 16104033 16104033 A G SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed missense c.2693 p.N898S 1 NULL "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC1 4363 broad.mit.edu 36 16 16116173 16116173 + Silent SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 16116173 16116173 G A SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed silent c.3129 p.L1043 0.09 "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCC6 368 broad.mit.edu 36 16 16186389 16186389 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 16186389 16186389 G A SNP ABCC6 NM_001171 human genbank 54_36p -1 reviewed missense c.1871 p.A624V 0.04 NULL "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors XYLT1 64131 broad.mit.edu 36 16 17199622 17199622 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture WU-454;Capture Illumina GAIIx 16 17199622 17199622 C T SNP XYLT1 NM_022166 human genbank 54_36p -1 validated missense c.1237 p.D413N 1 HMMPfam_Branch HMMPfam_Branch - no_errors SMG1 23049 broad.mit.edu 36 16 18790280 18790280 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 18790280 18790280 C T SNP SMG1 NM_015092 human genbank 54_36p -1 reviewed missense c.2209 p.E737K 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors TMC7 79905 broad.mit.edu 36 16 18964167 18964167 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 18964167 18964167 T A SNP TMC7 NM_024847 human genbank 54_36p 1 provisional missense c.1459 p.W487R 1 HMMPfam_TMC HMMPfam_TMC - no_errors GDE1 51573 broad.mit.edu 36 16 19435914 19435914 + Silent SNP A A T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 19435914 19435914 A T SNP GDE1 NM_016641 human genbank 54_36p -1 validated silent c.360 p.T120 0.87 "superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD" "superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD" - no_errors GDE1 51573 broad.mit.edu 36 16 19440544 19440544 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 19440544 19440544 G C SNP GDE1 NM_016641 human genbank 54_36p -1 validated missense c.244 p.L82V 1 "HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl" "HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl" - no_errors C16orf62 57020 broad.mit.edu 36 16 19491949 19491949 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 19491949 19491949 C G SNP C16orf62 NM_020314 human genbank 54_36p 1 predicted missense c.293 p.S98C 0.97 NULL NULL - no_errors GP2 2813 broad.mit.edu 36 16 20242894 20242894 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20242894 20242894 G T SNP GP2 NM_001007240 human genbank 54_36p -1 validated missense c.280 p.R94S 1 NULL "HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors ACSM5 54988 broad.mit.edu 36 16 20348527 20348527 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 20348527 20348527 G T SNP ACSM5 NM_017888 human genbank 54_36p 1 validated missense c.1028 p.C343F 0.98 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors LOC81691 81691 broad.mit.edu 36 16 20740700 20740700 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20740700 20740700 G C SNP LOC81691 NM_030941 human genbank 54_36p 1 validated missense c.591 p.M197I 1 NULL "superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD" - no_errors DCUN1D3 123879 broad.mit.edu 36 16 20779062 20779062 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20779062 20779062 G T SNP DCUN1D3 NM_173475 human genbank 54_36p -1 validated missense c.562 p.Q188K 1 HMMPfam_DUF298 HMMPfam_DUF298 - no_errors DCUN1D3 123879 broad.mit.edu 36 16 20781014 20781014 + Silent SNP A A G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20781014 20781014 A G SNP DCUN1D3 NM_173475 human genbank 54_36p -1 validated silent c.348 p.N116 1 NULL HMMPfam_DUF298 - no_errors DNAH3 55567 broad.mit.edu 36 16 20882913 20882913 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20882913 20882913 G A SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.9794 p.S3265F 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 broad.mit.edu 36 16 20906662 20906662 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20906662 20906662 T C SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.6736 p.M2246V 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 broad.mit.edu 36 16 20938586 20938586 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20938586 20938586 C G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.5883 p.W1961C 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 broad.mit.edu 36 16 20938623 20938623 + Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 20938623 20938623 A T SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.5846 p.L1949H 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 broad.mit.edu 36 16 20988398 20988398 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 20988398 20988398 T A SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.3220 p.I1074F 0.09 HMMPfam_DHC_N2 "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 broad.mit.edu 36 16 21064853 21064853 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 21064853 21064853 G T SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.175 p.P59T 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ZP2 7783 broad.mit.edu 36 16 21130366 21130366 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 21130366 21130366 C A SNP ZP2 NM_003460 human genbank 54_36p -1 reviewed missense c.4 p.A2S 0.28 NULL "HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors ANKS4B 257629 broad.mit.edu 36 16 21168707 21168707 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 21168707 21168707 A T SNP ANKS4B NM_145865 human genbank 54_36p 1 validated missense c.319 p.S107C 1 "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors ANKS4B 257629 broad.mit.edu 36 16 21169284 21169284 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 21169284 21169284 C G SNP ANKS4B NM_145865 human genbank 54_36p 1 validated missense c.896 p.P299R 0.01 NULL "HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain" - no_errors NPIPL3 23117 broad.mit.edu 36 16 21323772 21323772 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 21323772 21323772 G C SNP NPIPL3 NM_130464 human genbank 54_36p -1 validated missense c.986 p.T329S 0 HMMPfam_NPIP "HMMPfam_NPIP,PatternScan_TCP1_3" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region EEF2K 29904 broad.mit.edu 36 16 22185593 22185593 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 22185593 22185593 C T SNP EEF2K NM_013302 human genbank 54_36p 1 reviewed silent c.1659 p.F553 1 "HMMPfam_Sel1,superfamily_SSF81901" "superfamily_Kinase_like,HMMSmart_Alpha_kinase,HMMPfam_Alpha_kinase,HMMPfam_Sel1,superfamily_SSF81901" - no_errors EEF2K 29904 broad.mit.edu 36 16 22185672 22185672 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 22185672 22185672 C T SNP EEF2K NM_013302 human genbank 54_36p 1 reviewed missense c.1738 p.H580Y 1 superfamily_SSF81901 "HMMPfam_Alpha_kinase,HMMSmart_Alpha_kinase,HMMPfam_Sel1,superfamily_Kinase_like,superfamily_SSF81901" - no_errors POLR3E 55718 broad.mit.edu 36 16 22235495 22235495 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 22235495 22235495 G C SNP POLR3E NM_018119 human genbank 54_36p 1 validated missense c.715 p.V239L 0.98 HMMPfam_Sin_N HMMPfam_Sin_N - no_errors LOC100132247 100132247 broad.mit.edu 36 16 22453485 22453496 + In_Frame_Del DEL TCCACCCTCAGC - TCCACCCTCAGC novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 TCCACCCTCAGC TCCACCCTCAGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 16 22453485 22453496 TCCACCCTCAGC - DEL uc010bxh.1 ENST00000342168 human ensembl 54_36p 1 known in_frame_del c.1680_1691 p.APPS564in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 HMMPfam_NPIP HMMPfam_NPIP "(deletion:cds_exon[22452448,22453740])" no_errors USP31 57478 broad.mit.edu 36 16 22987056 22987056 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 22987056 22987056 C T SNP USP31 NM_020718 human genbank 54_36p -1 validated missense c.3871 p.E1291K 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP31 57478 broad.mit.edu 36 16 22988358 22988358 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 22988358 22988358 C T SNP USP31 NM_020718 human genbank 54_36p -1 validated missense c.2569 p.A857T 1 NULL "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors SCNN1G 6340 broad.mit.edu 36 16 23116230 23116230 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23116230 23116230 C A SNP SCNN1G NM_001039 human genbank 54_36p 1 validated missense c.1058 p.T353N 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors SCNN1B 6338 broad.mit.edu 36 16 23297581 23297581 + Silent SNP C C A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23297581 23297581 C A SNP SCNN1B NM_000336 human genbank 54_36p 1 validated silent c.1458 p.T486 0.99 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors SCNN1B 6338 broad.mit.edu 36 16 23299425 23299425 + Silent SNP G G C novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23299425 23299425 G C SNP SCNN1B NM_000336 human genbank 54_36p 1 validated silent c.1725 p.P575 1 NULL "HMMPfam_ASC,PatternScan_ASC" - no_errors GGA2 23062 broad.mit.edu 36 16 23388842 23388842 + Silent SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23388842 23388842 G T SNP GGA2 NM_015044 human genbank 54_36p -1 reviewed silent c.1596 p.I532 1 "superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2" "HMMPfam_VHS,superfamily_ENTH_VHS,HMMSmart_VHS,superfamily_SSF89009,HMMPfam_GAT,superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2" - no_errors PALB2 79728 broad.mit.edu 36 16 23553912 23553912 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 16 23553912 23553912 T C SNP PALB2 NM_024675 human genbank 54_36p -1 reviewed missense c.1456 p.K486E 0.07 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like" - no_errors PALB2 79728 broad.mit.edu 36 16 23554260 23554260 + Nonsense_Mutation SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23554260 23554260 G A SNP PALB2 NM_024675 human genbank 54_36p -1 reviewed nonsense c.1108 p.Q370* 0.03 NULL "superfamily_WD40_like,PatternScan_WD_REPEATS_1" - no_errors PALB2 79728 broad.mit.edu 36 16 23554581 23554581 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 23554581 23554581 C A SNP PALB2 NM_024675 human genbank 54_36p -1 reviewed nonsense c.787 p.E263* 0.17 NULL "superfamily_WD40_like,PatternScan_WD_REPEATS_1" - no_errors ERN2 10595 broad.mit.edu 36 16 23619788 23619788 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23619788 23619788 A G SNP ERN2 NM_033266 human genbank 54_36p -1 validated missense c.1496 p.M499T 0.47 NULL "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors ERN2 10595 broad.mit.edu 36 16 23621340 23621340 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 23621340 23621340 G T SNP ERN2 NM_033266 human genbank 54_36p -1 validated missense c.1097 p.A366D 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_PQQ,HMMSmart_SM00580,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like),superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_Pkinase,HMMSmart_SM00564" - no_errors PRKCB 5579 broad.mit.edu 36 16 24073596 24073596 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 24073596 24073596 T A SNP PRKCB NM_002738 human genbank 54_36p 1 reviewed missense c.1156 p.C386S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors SLC5A11 115584 broad.mit.edu 36 16 24809691 24809691 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 24809691 24809691 G T SNP SLC5A11 NM_052944 human genbank 54_36p 1 provisional missense c.665 p.S222I 1 HMMPfam_SSF HMMPfam_SSF - no_errors ZKSCAN2 342357 broad.mit.edu 36 16 25165606 25165606 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 25165606 25165606 T A SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated missense c.1412 p.D471V 1 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HS3ST4 9951 broad.mit.edu 36 16 25611891 25611891 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 25611891 25611891 C G SNP HS3ST4 ENST00000331351 human ensembl 54_36p 1 known missense c.652 p.R218G 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors JMJD5 79831 broad.mit.edu 36 16 27129149 27129149 + Silent SNP C C T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27129149 27129149 C T SNP JMJD5 NM_024773 human genbank 54_36p 1 reviewed silent c.204 p.S68 0.53 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558" - no_errors IL4R 3566 broad.mit.edu 36 16 27281903 27281903 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27281903 27281903 G A SNP IL4R NM_000418 human genbank 54_36p 1 reviewed missense c.1729 p.E577K 0.18 NULL "superfamily_Fibronectin type III,HMMPfam_IL4Ra_N,PatternScan_HEMATOPO_REC_S_F1" - no_errors IL4R 3566 broad.mit.edu 36 16 27282455 27282455 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 27282455 27282455 G A SNP IL4R NM_000418 human genbank 54_36p 1 reviewed missense c.2281 p.A761T 0 NULL "PatternScan_HEMATOPO_REC_S_F1,superfamily_Fibronectin type III,HMMPfam_IL4Ra_N" - no_errors IL21R 50615 broad.mit.edu 36 16 27356479 27356504 + Frame_Shift_Del DEL GAGTGTGGCAGCTTTCTCCTGGCTGA - GAGTGTGGCAGCTTTCTCCTGGCTGA novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 GAGTGTGGCAGCTTTCTCCTGGCTGA GAGTGTGGCAGCTTTCTCCTGGCTGA - - GAGTGTGGCAGCTTTCTCCTGGCTGA GAGTGTGGCAGCTTTCTCCTGGCTGA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 16 27356479 27356504 GAGTGTGGCAGCTTTCTCCTGGCTGA - DEL IL21R NM_021798 human genbank 54_36p 1 reviewed frame_shift_del c.322_347 p.C109fs 0.967:0.981:0.989:0.991:0.988:0.949:0.965:0.969:0.958:0.953:0.952:0.952:0.931:0.803:0.042:0.001:0.000:0.001:0.004:0.016:0.016:0.016:0.018:0.007:0.001:0.002 NULL "superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1" "(deletion:cds_exon[27356310,27356509])" no_errors IL21R 50615 broad.mit.edu 36 16 27367753 27367753 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27367753 27367753 G A SNP IL21R NM_021798 human genbank 54_36p 1 reviewed missense c.1265 p.G422E 0 NULL "superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1" - no_errors GTF3C1 2975 broad.mit.edu 36 16 27408567 27408567 + Splice_Site SNP T T A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27408567 27408567 T A SNP GTF3C1 NM_001520 human genbank 54_36p -1 validated splice_site c.3152-2 e20-2 0.94 - - - no_errors GTF3C1 2975 broad.mit.edu 36 16 27457177 27457177 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27457177 27457177 A C SNP GTF3C1 NM_001520 human genbank 54_36p -1 validated missense c.433 p.W145G 1 HMMPfam_B-block_TFIIIC HMMPfam_B-block_TFIIIC - no_errors KIAA0556 23247 broad.mit.edu 36 16 27627607 27627607 + Silent SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 16 27627607 27627607 G A SNP KIAA0556 NM_015202 human genbank 54_36p 1 validated silent c.1470 p.S490 0 superfamily_Galactose-binding domain-like "superfamily_Galactose-binding domain-like,PatternScan_AKH" - no_errors KIAA0556 23247 broad.mit.edu 36 16 27695791 27695791 + Silent SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27695791 27695791 G T SNP KIAA0556 NM_015202 human genbank 54_36p 1 validated silent c.4491 p.V1497 1 NULL "PatternScan_AKH,superfamily_Galactose-binding domain-like" - no_errors GSG1L 146395 broad.mit.edu 36 16 27747764 27747764 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27747764 27747764 G A SNP GSG1L NM_001109763 human genbank 54_36p -1 validated missense c.677 p.S226F 1 NULL HMMPfam_GSG-1 - no_errors XPO6 23214 broad.mit.edu 36 16 28023443 28023443 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 28023443 28023443 G A SNP XPO6 NM_015171 human genbank 54_36p -1 provisional silent c.2871 p.T957 0.96 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Xpo1" - no_errors SULT1A1 6817 broad.mit.edu 36 16 28527166 28527166 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 28527166 28527166 T C SNP SULT1A1 NM_001055 human genbank 54_36p -1 reviewed missense c.319 p.T107A 0.93 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors SH2B1 25970 broad.mit.edu 36 16 28787832 28787832 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 28787832 28787832 A C SNP SH2B1 NM_015503 human genbank 54_36p 1 reviewed missense c.1046 p.E349A 0.99 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors ATP2A1 487 broad.mit.edu 36 16 28817150 28817150 + Silent SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 28817150 28817150 G A SNP ATP2A1 NM_173201 human genbank 54_36p 1 reviewed silent c.1641 p.A547 0.02 "superfamily_Calcium ATPase transmembrane domain M,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase" ############################################################################################################################################################################################################################################################### - no_errors RABEP2 79874 broad.mit.edu 36 16 28829932 28829932 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 28829932 28829932 G A SNP RABEP2 NM_024816 human genbank 54_36p -1 validated missense c.964 p.R322W 1 NULL "HMMPfam_Rabaptin,PatternScan_ODR_DC_2_2,HMMPfam_Rab5-bind" - no_errors CD19 930 broad.mit.edu 36 16 28851796 28851796 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 28851796 28851796 C A SNP CD19 NM_001770 human genbank 54_36p 1 reviewed missense c.419 p.S140Y 0 NULL "superfamily_SSF48726,HMMSmart_IG" - no_errors NFATC2IP 84901 broad.mit.edu 36 16 28873481 28873482 + Nonsense_Mutation DNP AG AG CT novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 28873481 28873482 AG CT DNP NFATC2IP NM_032815 human genbank 54_36p 1 validated nonsense c.555_556 p.EEK185D* 0.921:0.923 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00213" - no_errors NFATC2IP 84901 broad.mit.edu 36 16 28875118 28875118 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 28875118 28875118 A G SNP NFATC2IP NM_032815 human genbank 54_36p 1 validated missense c.805 p.I269V 1 "HMMSmart_SM00213,superfamily_Ubiquitin-like" "HMMSmart_SM00213,superfamily_Ubiquitin-like" - no_errors SPN 6693 broad.mit.edu 36 16 29583716 29583716 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 29583716 29583716 C A SNP SPN NM_001030288 human genbank 54_36p 1 validated missense c.1166 p.P389H 0.01 NULL NULL - no_errors MAZ 4150 broad.mit.edu 36 16 29728362 29728362 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 29728362 29728362 G C SNP MAZ NM_001042539 human genbank 54_36p 1 validated missense c.1280 p.G427A 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PRRT2 112476 broad.mit.edu 36 16 29732014 29732014 + Silent SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 29732014 29732014 G A SNP PRRT2 NM_145239 human genbank 54_36p 1 validated silent c.138 p.E46 0.93 NULL HMMPfam_CD225 - no_errors MVP 9961 broad.mit.edu 36 16 29760656 29760656 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 29760656 29760656 G A SNP MVP NM_005115 human genbank 54_36p 1 reviewed missense c.1430 p.R477Q 0.18 NULL HMMPfam_Vault - no_errors TBC1D10B 26000 broad.mit.edu 36 16 30288079 30288079 + Silent SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30288079 30288079 G A SNP TBC1D10B NM_015527 human genbank 54_36p -1 validated silent c.102 p.F34 1 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC,PatternScan_ILVD_EDD_1" - no_errors ZNF48 197407 broad.mit.edu 36 16 30316593 30316593 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30316593 30316593 C A SNP ZNF48 NM_152652 human genbank 54_36p 1 provisional missense c.521 p.A174D 0.61 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF48 197407 broad.mit.edu 36 16 30317288 30317288 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30317288 30317288 C G SNP ZNF48 NM_152652 human genbank 54_36p 1 provisional missense c.1216 p.L406V 0.98 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ITGAL 3683 broad.mit.edu 36 16 30414944 30414944 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 30414944 30414944 T C SNP ITGAL NM_002209 human genbank 54_36p 1 reviewed missense c.1529 p.L510P 0.99 "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ZNF785 146540 broad.mit.edu 36 16 30501512 30501512 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30501512 30501512 C T SNP ZNF785 NM_152458 human genbank 54_36p -1 provisional missense c.1088 p.R363H 0.07 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SRCAP 10847 broad.mit.edu 36 16 30639136 30639136 + Silent SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 30639136 30639136 C G SNP SRCAP NM_006662 human genbank 54_36p 1 validated silent c.2970 p.V990 1 NULL "HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384" - no_errors SRCAP 10847 broad.mit.edu 36 16 30642767 30642767 + Silent SNP A A C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30642767 30642767 A C SNP SRCAP NM_006662 human genbank 54_36p 1 validated silent c.4521 p.L1507 0.97 NULL "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,HMMPfam_AT_hook,HMMSmart_SM00384,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SRCAP 10847 broad.mit.edu 36 16 30648363 30648363 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30648363 30648363 C G SNP SRCAP NM_006662 human genbank 54_36p 1 validated missense c.6096 p.F2032L 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,HMMPfam_AT_hook,HMMSmart_SM00384,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ZNF629 23361 broad.mit.edu 36 16 30702244 30702244 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30702244 30702244 G T SNP ZNF629 NM_001080417 human genbank 54_36p -1 provisional missense c.906 p.N302K 0.89 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FBXL19 54620 broad.mit.edu 36 16 30865596 30865596 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 30865596 30865596 C T SNP FBXL19 NM_001099784 human genbank 54_36p 1 provisional missense c.1732 p.R578C 1 superfamily_RNI-like "HMMPfam_zf-CXXC,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00256,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367" - no_errors FBXL19 54620 broad.mit.edu 36 16 30865665 30865665 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 30865665 30865665 G A SNP FBXL19 NM_001099784 human genbank 54_36p 1 provisional missense c.1801 p.A601T 0.4 "HMMSmart_SM00367,superfamily_RNI-like" "HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00367,PatternScan_ZF_PHD_1,superfamily_RNI-like" - no_errors SETD1A 9739 broad.mit.edu 36 16 30890465 30890465 + Silent SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 30890465 30890465 G T SNP SETD1A NM_014712 human genbank 54_36p 1 provisional silent c.3282 p.V1094 0.78 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors ZNF668 79759 broad.mit.edu 36 16 30981063 30981063 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30981063 30981063 G T SNP ZNF668 NM_024706 human genbank 54_36p -1 provisional nonsense c.687 p.C229* 0.99 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF646 9726 broad.mit.edu 36 16 30996303 30996303 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 30996303 30996303 C G SNP ZNF646 NM_014699 human genbank 54_36p 1 validated missense c.1157 p.A386G 0.99 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PRSS36 146547 broad.mit.edu 36 16 31062194 31062194 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 31062194 31062194 C T SNP PRSS36 NM_173502 human genbank 54_36p -1 validated nonsense c.1070 p.W357* 1 "HMMPfam_Trypsin,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors PRSS36 146547 broad.mit.edu 36 16 31062438 31062438 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 31062438 31062438 C T SNP PRSS36 NM_173502 human genbank 54_36p -1 validated silent c.942 p.R314 0 NULL "HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors ITGAM 3684 broad.mit.edu 36 16 31240176 31240176 + Silent SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 31240176 31240176 G T SNP ITGAM NM_000632 human genbank 54_36p 1 reviewed silent c.1821 p.G607 0 "superfamily_SSF69318,HMMSmart_Int_alpha" "superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ARMC5 79798 broad.mit.edu 36 16 31383762 31383762 + Silent SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 31383762 31383762 C A SNP ARMC5 NM_024742 human genbank 54_36p 1 validated silent c.1917 p.S639 0 NULL "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors SLC5A2 6524 broad.mit.edu 36 16 31407219 31407219 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 31407219 31407219 G A SNP SLC5A2 NM_003041 human genbank 54_36p 1 validated missense c.1036 p.V346M 1 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2" - no_errors ZNF267 10308 broad.mit.edu 36 16 31834990 31834990 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 31834990 31834990 C T SNP ZNF267 NM_003414 human genbank 54_36p 1 validated missense c.1919 p.A640V 0.2 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors SHCBP1 79801 broad.mit.edu 36 16 45173202 45173202 + Silent SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 45173202 45173202 C G SNP SHCBP1 NM_024745 human genbank 54_36p -1 validated silent c.1959 p.G653 1 NULL "superfamily_Pectin lyase-like,HMMSmart_SM00710" - no_errors MYLK3 91807 broad.mit.edu 36 16 45339385 45339385 + Silent SNP G G T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 45339385 45339385 G T SNP MYLK3 NM_182493 human genbank 54_36p -1 validated silent c.222 p.G74 0.02 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ITFG1 81533 broad.mit.edu 36 16 45850120 45850120 + Silent SNP T T C novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 45850120 45850120 T C SNP ITFG1 NM_030790 human genbank 54_36p -1 provisional silent c.1254 p.G418 0.11 NULL "superfamily_SSF69318,HMMPfam_FG-GAP" - no_errors ITFG1 81533 broad.mit.edu 36 16 46052298 46052298 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 46052298 46052298 C A SNP ITFG1 NM_030790 human genbank 54_36p -1 provisional missense c.160 p.G54W 1 superfamily_SSF69318 "HMMPfam_FG-GAP,superfamily_SSF69318" - no_errors PHKB 5257 broad.mit.edu 36 16 46180502 46180502 + Silent SNP A A G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 46180502 46180502 A G SNP PHKB NM_000293 human genbank 54_36p 1 validated silent c.1056 p.P352 1 "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" - no_errors ABCC11 85320 broad.mit.edu 36 16 46785294 46785294 + Silent SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 46785294 46785294 C T SNP ABCC11 NM_032583 human genbank 54_36p -1 reviewed silent c.2505 p.S835 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC11 85320 broad.mit.edu 36 16 46787704 46787704 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 46787704 46787704 C A SNP ABCC11 NM_032583 human genbank 54_36p -1 reviewed nonsense c.2344 p.E782* 0.03 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ZNF423 23090 broad.mit.edu 36 16 48229945 48229945 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 48229945 48229945 C A SNP ZNF423 NM_015069 human genbank 54_36p -1 reviewed missense c.619 p.D207Y 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF423 23090 broad.mit.edu 36 16 48380912 48380912 + Silent SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 48380912 48380912 G A SNP ZNF423 NM_015069 human genbank 54_36p -1 reviewed silent c.63 p.S21 0.99 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors PAPD5 64282 broad.mit.edu 36 16 48819341 48819341 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 48819341 48819341 G C SNP PAPD5 NM_001040284 human genbank 54_36p 1 validated missense c.1219 p.E407Q 1 NULL "superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc" - no_errors SNX20 124460 broad.mit.edu 36 16 49268884 49268884 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 49268884 49268884 A G SNP SNX20 NM_182854 human genbank 54_36p -1 validated missense c.55 p.C19R 0 NULL "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" - no_errors NOD2 64127 broad.mit.edu 36 16 49291059 49291059 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 49291059 49291059 G C SNP NOD2 NM_022162 human genbank 54_36p 1 reviewed missense c.233 p.G78A 0.85 "HMMPfam_CARD,superfamily_DEATH domain" "HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,HMMPfam_LRR_1" - no_errors SALL1 6299 broad.mit.edu 36 16 49733438 49733438 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 16 49733438 49733438 T G SNP SALL1 NM_002968 human genbank 54_36p -1 reviewed missense c.196 p.T66P 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors CHD9 80205 broad.mit.edu 36 16 51748190 51748190 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 51748190 51748190 C T SNP CHD9 NM_025134 human genbank 54_36p 1 validated nonsense c.688 p.Q230* 1 NULL "superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_BRK" - no_errors CHD9 80205 broad.mit.edu 36 16 51859340 51859340 + Silent SNP G G T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 51859340 51859340 G T SNP CHD9 NM_025134 human genbank 54_36p 1 validated silent c.4518 p.G1506 1 superfamily_SSF52540 "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_CHROMO,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_BRK,HMMSmart_BRK,HMMSmart_DEXDc,superfamily_Chromodomain-like,superfamily_SSF52540" - no_errors RBL2 5934 broad.mit.edu 36 16 52061578 52061578 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 16 52061578 52061578 C T SNP RBL2 NM_005611 human genbank 54_36p 1 validated missense c.2225 p.T742M 1 NULL "HMMSmart_CYCLIN,HMMPfam_RB_A,superfamily_Cyclin_like,HMMPfam_RB_B" - no_errors IRX6 79190 broad.mit.edu 36 16 53919112 53919112 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 53919112 53919112 A T SNP IRX6 NM_024335 human genbank 54_36p 1 validated missense c.527 p.K176M 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_SM00548" - no_errors MMP2 4313 broad.mit.edu 36 16 54081185 54081185 + Silent SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 54081185 54081185 G A SNP MMP2 NM_004530 human genbank 54_36p 1 reviewed silent c.1128 p.A376 0.7 "superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_FN2,HMMPfam_fn2,PatternScan_FN2_1" ############################################################################################################################################################################################################################################################### - no_errors MMP2 4313 broad.mit.edu 36 16 54083231 54083231 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 16 54083231 54083231 G C SNP MMP2 NM_004530 human genbank 54_36p 1 reviewed missense c.1198 p.V400L 1 "HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,superfamily_SSF55486" ############################################################################################################################################################################################################################################################### - no_errors SLC6A2 6530 broad.mit.edu 36 16 54248135 54248135 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 54248135 54248135 G T SNP SLC6A2 NM_001043 human genbank 54_36p 1 validated missense c.28 p.V10L 1 NULL "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors SLC6A2 6530 broad.mit.edu 36 16 54293276 54293276 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 54293276 54293276 A G SNP SLC6A2 NM_001043 human genbank 54_36p 1 validated missense c.1759 p.R587G 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors CES5A 221223 broad.mit.edu 36 16 54465369 54465369 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 54465369 54465369 A G SNP CES7 NM_145024 human genbank 54_36p -1 validated missense c.155 p.V52A 0 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1" - no_errors MT4 84560 broad.mit.edu 36 16 55160320 55160320 + Nonsense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 55160320 55160320 C G SNP MT4 NM_032935 human genbank 54_36p 1 provisional nonsense c.164 p.S55* 0.67 "HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_TNFR_NGFR_1" "HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_TNFR_NGFR_1" - no_errors MT1B 4490 broad.mit.edu 36 16 55243995 55243995 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 55243995 55243995 G T SNP MT1B NM_005947 human genbank 54_36p 1 provisional missense c.40 p.A14S 0.99 "HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_METALLOTHIONEIN_VRT" "HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_METALLOTHIONEIN_VRT" - no_errors NLRC5 84166 broad.mit.edu 36 16 55627576 55627576 + Silent SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 55627576 55627576 G A SNP NLRC5 NM_032206 human genbank 54_36p 1 validated silent c.2691 p.L897 0.84 superfamily_RNI-like "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368,HMMPfam_LRR_1" - no_errors NLRC5 84166 broad.mit.edu 36 16 55632971 55632971 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 55632971 55632971 G A SNP NLRC5 NM_032206 human genbank 54_36p 1 validated missense c.3013 p.G1005S 0 "HMMSmart_SM00368,superfamily_RNI-like" "HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00367,HMMPfam_NACHT,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRC5 84166 broad.mit.edu 36 16 55658804 55658804 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 55658804 55658804 G C SNP NLRC5 NM_032206 human genbank 54_36p 1 validated missense c.4327 p.A1443P 1 NULL "HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00367,HMMPfam_NACHT,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRC5 84166 broad.mit.edu 36 16 55669187 55669187 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 55669187 55669187 G T SNP NLRC5 NM_032206 human genbank 54_36p 1 validated missense c.4975 p.V1659F 0 "HMMSmart_SM00368,superfamily_RNI-like" "HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00367,HMMPfam_NACHT,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CPNE2 221184 broad.mit.edu 36 16 55702215 55702215 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 55702215 55702215 G C SNP CPNE2 NM_152727 human genbank 54_36p 1 reviewed missense c.60 p.Q20H 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine" - no_errors RSPRY1 89970 broad.mit.edu 36 16 55818841 55818841 + Silent SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 55818841 55818841 T A SNP RSPRY1 NM_133368 human genbank 54_36p 1 provisional silent c.1248 p.P416 1 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_ARM repeat,HMMPfam_SPRY,HMMSmart_SM00449,superfamily_RING/U-box,HMMSmart_SM00184" - no_errors CCDC102A 92922 broad.mit.edu 36 16 56117392 56117392 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 56117392 56117392 G T SNP CCDC102A NM_033212 human genbank 54_36p -1 provisional missense c.734 p.T245K 0 NULL NULL - no_errors GPR114 221188 broad.mit.edu 36 16 56156449 56156449 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56156449 56156449 T G SNP GPR114 NM_153837 human genbank 54_36p 1 provisional missense c.432 p.D144E 0.73 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors GPR97 222487 broad.mit.edu 36 16 56275606 56275606 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56275606 56275606 G T SNP GPR97 NM_170776 human genbank 54_36p 1 provisional missense c.1143 p.K381N 1 HMMPfam_7tm_2 "PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2" - no_errors GPR97 222487 broad.mit.edu 36 16 56275888 56275888 + Silent SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 56275888 56275888 T C SNP GPR97 NM_170776 human genbank 54_36p 1 provisional silent c.1248 p.S416 0 HMMPfam_7tm_2 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors CCDC135 84229 broad.mit.edu 36 16 56319833 56319833 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56319833 56319833 C A SNP CCDC135 NM_032269 human genbank 54_36p 1 validated missense c.2227 p.Q743K 1 NULL NULL - no_errors KATNB1 10300 broad.mit.edu 36 16 56344611 56344611 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56344611 56344611 T G SNP KATNB1 NM_005886 human genbank 54_36p 1 reviewed missense c.977 p.L326R 0 NULL "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors KIFC3 3801 broad.mit.edu 36 16 56357032 56357032 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 56357032 56357032 C T SNP KIFC3 NM_005550 human genbank 54_36p -1 validated missense c.1352 p.R451H 0.98 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors CNGB1 1258 broad.mit.edu 36 16 56514760 56514760 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56514760 56514760 C A SNP CNGB1 NM_001297 human genbank 54_36p -1 validated nonsense c.1561 p.E521* 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2" - no_errors ZNF319 57567 broad.mit.edu 36 16 56588171 56588171 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56588171 56588171 G A SNP ZNF319 NM_020807 human genbank 54_36p -1 provisional silent c.1500 p.D500 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2" - no_errors MMP15 4324 broad.mit.edu 36 16 56634731 56634731 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 16 56634731 56634731 C T SNP MMP15 NM_002428 human genbank 54_36p 1 reviewed missense c.1420 p.P474S 1 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors CCDC113 29070 broad.mit.edu 36 16 56841436 56841436 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 56841436 56841436 C T SNP CCDC113 NM_014157 human genbank 54_36p 1 validated missense c.17 p.S6F 0 NULL NULL - no_errors PRSS54 221191 broad.mit.edu 36 16 56885181 56885181 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 56885181 56885181 C T SNP KLKBL4 NM_001080492 human genbank 54_36p -1 provisional missense c.41 p.R14Q 0.46 NULL "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" - no_errors NDRG4 65009 broad.mit.edu 36 16 57095667 57095667 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 57095667 57095667 A T SNP NDRG4 NM_020465 human genbank 54_36p 1 reviewed missense c.332 p.Q111L 1 "superfamily_SSF53474,HMMPfam_Ndr" "superfamily_SSF53474,HMMPfam_Ndr" - no_errors CNOT1 23019 broad.mit.edu 36 16 57133879 57133879 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 57133879 57133879 G C SNP CNOT1 NM_016284 human genbank 54_36p -1 validated missense c.4529 p.T1510S 1 NULL "HMMPfam_Not1,PatternScan_LECTIN_LEGUME_BETA" - no_errors CNOT1 23019 broad.mit.edu 36 16 57136774 57136774 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 57136774 57136774 T G SNP CNOT1 NM_016284 human genbank 54_36p -1 validated missense c.4129 p.N1377H 1 NULL "HMMPfam_Not1,PatternScan_LECTIN_LEGUME_BETA" - no_errors CNOT1 23019 broad.mit.edu 36 16 57146908 57146908 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 57146908 57146908 G T SNP CNOT1 NM_016284 human genbank 54_36p -1 validated missense c.2639 p.T880N 1 NULL "HMMPfam_Not1,PatternScan_LECTIN_LEGUME_BETA" - no_errors SLC38A7 55238 broad.mit.edu 36 16 57268820 57268820 + Silent SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 57268820 57268820 G A SNP SLC38A7 NM_018231 human genbank 54_36p -1 provisional silent c.621 p.S207 0.96 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors SLC38A7 55238 broad.mit.edu 36 16 57271478 57271478 + Silent SNP A A G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 57271478 57271478 A G SNP SLC38A7 NM_018231 human genbank 54_36p -1 provisional silent c.54 p.D18 0.99 NULL HMMPfam_Aa_trans - no_errors CDH8 1006 broad.mit.edu 36 16 60245476 60245476 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 60245476 60245476 C T SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed missense c.1937 p.R646Q 1 HMMPfam_Cadherin_C "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH8 1006 broad.mit.edu 36 16 60412406 60412406 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 60412406 60412406 G C SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed missense c.948 p.I316M 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors CDH11 1009 broad.mit.edu 36 16 63563441 63563441 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 63563441 63563441 G C SNP CDH11 NM_001797 human genbank 54_36p -1 reviewed missense c.1418 p.P473R 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH5 1003 broad.mit.edu 36 16 64970832 64970832 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 64970832 64970832 G A SNP CDH5 NM_001795 human genbank 54_36p 1 reviewed missense c.91 p.A31T 0 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CMTM4 146223 broad.mit.edu 36 16 65214876 65214876 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65214876 65214876 G C SNP CMTM4 NM_178818 human genbank 54_36p -1 reviewed missense c.394 p.L132V 1 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors PDP2 57546 broad.mit.edu 36 16 65476657 65476657 + Silent SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 65476657 65476657 G A SNP PDP2 NM_020786 human genbank 54_36p 1 validated silent c.969 p.E323 1 "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C" "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,PatternScan_PP2C,HMMPfam_PP2C" - no_errors CDH16 1014 broad.mit.edu 36 16 65504955 65504955 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 65504955 65504955 T A SNP CDH16 NM_004062 human genbank 54_36p -1 reviewed missense c.843 p.E281D 0.39 "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1" - no_errors CES3 23491 broad.mit.edu 36 16 65558184 65558184 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 16 65558184 65558184 A G SNP CES3 NM_024922 human genbank 54_36p 1 validated missense c.977 p.K326R 0.1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_1" - no_errors CES3 23491 broad.mit.edu 36 16 65558234 65558234 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 16 65558234 65558234 G T SNP CES3 NM_024922 human genbank 54_36p 1 validated missense c.1027 p.V343F 0.37 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_1,superfamily_alpha/beta-Hydrolases" - no_errors CES4A 283848 broad.mit.edu 36 16 65587224 65587224 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 65587224 65587224 A C SNP CES8 NM_173815 human genbank 54_36p 1 validated missense c.251 p.Y84S 0.25 "HMMPfam_COesterase,superfamily_SSF53474" "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1" - no_errors C16orf70 80262 broad.mit.edu 36 16 65717447 65717448 + Splice_Site INS - T - novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 - - T T - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 16 65717447 65717448 - T INS C16orf70 NM_025187 human genbank 54_36p 1 provisional splice_site_ins c.231+1_231+1 e3+1 1.000:1.000 - - - no_errors NOL3 8996 broad.mit.edu 36 16 65766092 65766092 + Silent SNP G G T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65766092 65766092 G T SNP NOL3 NM_003946 human genbank 54_36p 1 provisional silent c.363 p.G121 0 NULL "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD" - no_errors ELMO3 79767 broad.mit.edu 36 16 65792082 65792087 + In_Frame_Del DEL AACCTC - AACCTC novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W AACCTC AACCTC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 16 65792082 65792087 AACCTC - DEL ELMO3 NM_024712 human genbank 54_36p 1 reviewed in_frame_del c.694_699 p.NL232in_frame_del 0.965:0.845:0.345:0.166:0.181:0.193 NULL "HMMPfam_ELMO_CED12,superfamily_SSF50729,HMMSmart_PH" "(deletion:cds_exon[65792061,65792212])" no_errors ELMO3 79767 broad.mit.edu 36 16 65793434 65793434 + Silent SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65793434 65793434 G T SNP ELMO3 NM_024712 human genbank 54_36p 1 reviewed silent c.1263 p.L421 1 HMMPfam_ELMO_CED12 "HMMPfam_ELMO_CED12,superfamily_SSF50729,HMMSmart_PH" - no_errors FHOD1 29109 broad.mit.edu 36 16 65838667 65838667 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65838667 65838667 G C SNP FHOD1 NM_013241 human genbank 54_36p -1 reviewed missense c.148 p.P50A 1 NULL "superfamily_ARM-type_fold,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors FHOD1 29109 broad.mit.edu 36 16 65838802 65838802 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65838802 65838802 C A SNP FHOD1 NM_013241 human genbank 54_36p -1 reviewed nonsense c.13 p.E5* 0.9 NULL "HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd,superfamily_ARM-type_fold" - no_errors PLEKHG4 25894 broad.mit.edu 36 16 65871480 65871480 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65871480 65871480 C T SNP PLEKHG4 NM_015432 human genbank 54_36p 1 reviewed missense c.32 p.S11F 0.26 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PLEKHG4 25894 broad.mit.edu 36 16 65872183 65872183 + Silent SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65872183 65872183 C T SNP PLEKHG4 NM_015432 human genbank 54_36p 1 reviewed silent c.568 p.L190 1 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors KCTD19 146212 broad.mit.edu 36 16 65893250 65893250 + Missense_Mutation SNP T T G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65893250 65893250 T G SNP KCTD19 NM_001100915 human genbank 54_36p -1 provisional missense c.720 p.E240D 0.97 superfamily_BTB/POZ_fold "superfamily_BTB/POZ_fold,HMMPfam_K_tetra" - no_errors LRRC36 55282 broad.mit.edu 36 16 65958639 65958639 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 65958639 65958639 C T SNP LRRC36 NM_018296 human genbank 54_36p 1 provisional missense c.973 p.P325S 0.96 NULL "superfamily_L domain-like,HMMPfam_LRR_1" - no_errors FAM65A 79567 broad.mit.edu 36 16 66133119 66133119 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66133119 66133119 C G SNP FAM65A NM_024519 human genbank 54_36p 1 validated missense c.1013 p.T338S 1 NULL superfamily_ARM-type_fold - no_errors RLTPR 146206 broad.mit.edu 36 16 66239510 66239510 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66239510 66239510 G C SNP RLTPR NM_001013838 human genbank 54_36p 1 provisional missense c.1126 p.G376R 0.96 superfamily_RNI-like "superfamily_RNI-like,HMMSmart_SM00368" - no_errors ACD 65057 broad.mit.edu 36 16 66251600 66251600 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66251600 66251600 G C SNP ACD NM_001082486 human genbank 54_36p -1 reviewed missense c.283 p.L95V 0 NULL NULL - no_errors PARD6A 50855 broad.mit.edu 36 16 66253794 66253794 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 66253794 66253794 C T SNP PARD6A NM_016948 human genbank 54_36p 1 reviewed missense c.784 p.R262C 1 NULL "HMMPfam_PB1,HMMSmart_SM00666,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors GFOD2 81577 broad.mit.edu 36 16 66267068 66267068 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66267068 66267068 C T SNP GFOD2 NM_030819 human genbank 54_36p -1 provisional missense c.649 p.V217I 1 "superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_GFO_IDH_MocA_C" "HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_GFO_IDH_MocA_C" - no_errors GFOD2 81577 broad.mit.edu 36 16 66277099 66277099 + Silent SNP C C A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66277099 66277099 C A SNP GFOD2 NM_030819 human genbank 54_36p -1 provisional silent c.21 p.V7 0.96 "HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-binding Rossmann-fold domains" "HMMPfam_GFO_IDH_MocA,HMMPfam_GFO_IDH_MocA_C,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain" - no_errors RANBP10 57610 broad.mit.edu 36 16 66322892 66322892 + Silent SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66322892 66322892 G A SNP RANBP10 NM_020850 human genbank 54_36p -1 provisional silent c.873 p.S291 1 HMMSmart_CTLH "HMMPfam_SPRY,HMMSmart_SPRY,HMMSmart_LisH,HMMSmart_CTLH,HMMSmart_CRA,HMMPfam_RanBPM_CRA" - no_errors RANBP10 57610 broad.mit.edu 36 16 66335794 66335794 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66335794 66335794 C T SNP RANBP10 NM_020850 human genbank 54_36p -1 provisional missense c.466 p.G156S 1 "HMMPfam_SPRY,HMMSmart_SPRY" "HMMPfam_SPRY,HMMSmart_LisH,HMMSmart_CTLH,HMMSmart_CRA,HMMSmart_SPRY,HMMPfam_RanBPM_CRA" - no_errors EDC4 23644 broad.mit.edu 36 16 66467492 66467492 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66467492 66467492 G A SNP EDC4 NM_014329 human genbank 54_36p 1 validated missense c.226 p.E76K 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors EDC4 23644 broad.mit.edu 36 16 66470523 66470523 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66470523 66470523 A G SNP EDC4 NM_014329 human genbank 54_36p 1 validated missense c.1450 p.N484D 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors EDC4 23644 broad.mit.edu 36 16 66472526 66472526 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66472526 66472526 C T SNP EDC4 NM_014329 human genbank 54_36p 1 validated nonsense c.2578 p.R860* 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors EDC4 23644 broad.mit.edu 36 16 66473166 66473166 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66473166 66473166 G A SNP EDC4 NM_014329 human genbank 54_36p 1 validated missense c.2921 p.R974H 0.99 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors LCAT 3931 broad.mit.edu 36 16 66531739 66531739 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66531739 66531739 T C SNP LCAT NM_000229 human genbank 54_36p -1 reviewed missense c.892 p.T298A 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_LACT" "superfamily_alpha/beta-Hydrolases,HMMPfam_LACT" - no_errors SLC12A4 6560 broad.mit.edu 36 16 66541876 66541876 + Silent SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66541876 66541876 C T SNP SLC12A4 NM_005072 human genbank 54_36p -1 validated silent c.1476 p.R492 0.99 HMMPfam_AA_permease "HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1" - no_errors SLC12A4 6560 broad.mit.edu 36 16 66553081 66553081 + Silent SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66553081 66553081 C T SNP SLC12A4 NM_005072 human genbank 54_36p -1 validated silent c.240 p.S80 1 NULL "HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1" - no_errors NFATC3 4775 broad.mit.edu 36 16 66817872 66817872 + Silent SNP C C A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 16 66817872 66817872 C A SNP NFATC3 NM_173165 human genbank 54_36p 1 reviewed silent c.3225 p.L1075 0.51 NULL "superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors ESRP2 80004 broad.mit.edu 36 16 66822688 66822688 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 66822688 66822688 C G SNP ESRP2 NM_024939 human genbank 54_36p -1 validated missense c.1605 p.E535D 1 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors SMPD3 55512 broad.mit.edu 36 16 66962930 66962930 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 66962930 66962930 T C SNP SMPD3 NM_018667 human genbank 54_36p -1 validated missense c.656 p.H219R 0 NULL "HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos" - no_errors CDH3 1001 broad.mit.edu 36 16 67273825 67273825 + Silent SNP C C T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 67273825 67273825 C T SNP CDH3 NM_001793 human genbank 54_36p 1 reviewed silent c.1116 p.D372 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH3 1001 broad.mit.edu 36 16 67283312 67283312 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 67283312 67283312 G A SNP CDH3 NM_001793 human genbank 54_36p 1 reviewed missense c.1984 p.A662T 0.2 NULL "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors COG8 84342 broad.mit.edu 36 16 67930898 67930898 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 67930898 67930898 T A SNP COG8 NM_032382 human genbank 54_36p -1 reviewed missense c.59 p.E20V 1 NULL HMMPfam_Dor1 - no_errors AARS 16 broad.mit.edu 36 16 68844146 68844146 + Silent SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 68844146 68844146 G C SNP AARS NM_001605 human genbank 54_36p -1 reviewed silent c.2886 p.R962 0.98 NULL "superfamily_SSF55681,HMMPfam_tRNA-synt_2c,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,HMMPfam_tRNA_SAD,HMMPfam_DHHA1" - no_errors AARS 16 broad.mit.edu 36 16 68861635 68861635 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 68861635 68861635 C G SNP AARS NM_001605 human genbank 54_36p -1 reviewed missense c.781 p.D261H 1 "superfamily_Ala-tRNA-synth_IIc_anticod-bd,HMMPfam_tRNA-synt_2c" "HMMPfam_DHHA1,HMMPfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,HMMPfam_tRNA-synt_2c,superfamily_SSF55681" - no_errors FUK 197258 broad.mit.edu 36 16 69070777 69070777 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 69070777 69070777 G C SNP FUK NM_145059 human genbank 54_36p 1 reviewed missense c.3123 p.E1041D 0.06 "superfamily_GHMP Kinase C-terminal domain,HMMPfam_GHMP_kinases_C" "HMMPfam_Fucokinase,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_GHMP_kinases_N,superfamily_GHMP Kinase C-terminal domain,HMMPfam_GHMP_kinases_C" - no_errors HYDIN 54768 broad.mit.edu 36 16 69465990 69465990 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 69465990 69465990 T C SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.10664 p.K3555R 1 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69512218 69512218 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 69512218 69512218 G A SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.7559 p.T2520M 0.17 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69512218 69512219 + Missense_Mutation DNP GT GT AG novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 69512218 69512219 GT AG DNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.7559_7558 p.T2520L 0.166:0.168 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69512219 69512219 + Missense_Mutation SNP T T G rs67115747 Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 69512219 69512219 T G SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.7558 p.T2520P 0.17 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69535249 69535249 + Silent SNP T T C novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 16 69535249 69535249 T C SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.6633 p.E2211 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69561950 69561950 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 69561950 69561950 C G SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.5590 p.D1864H 1 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69562149 69562149 + Silent SNP T T C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 16 69562149 69562149 T C SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.5391 p.Q1797 0.06 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors HYDIN 54768 broad.mit.edu 36 16 69583524 69583524 + Silent SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 69583524 69583524 T C SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.3735 p.A1245 0 NULL "superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TAT 6898 broad.mit.edu 36 16 70161677 70161677 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 70161677 70161677 A C SNP TAT NM_000353 human genbank 54_36p -1 reviewed missense c.1037 p.L346R 1 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" "HMMPfam_TAT_ubiq,superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_1" - no_errors TAT 6898 broad.mit.edu 36 16 70167813 70167813 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 70167813 70167813 G A SNP TAT NM_000353 human genbank 54_36p -1 reviewed missense c.7 p.P3S 0.99 HMMPfam_TAT_ubiq "PatternScan_AA_TRANSFER_CLASS_1,HMMPfam_Aminotran_1_2,HMMPfam_TAT_ubiq,superfamily_PLP-dependent transferases" - no_errors AP1G1 164 broad.mit.edu 36 16 70365879 70365879 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 16 70365879 70365879 T G SNP AP1G1 NM_001030007 human genbank 54_36p -1 reviewed missense c.319 p.I107L 1 "superfamily_ARM repeat,HMMPfam_Adaptin_N" "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809" - no_errors ZNF821 55565 broad.mit.edu 36 16 70451902 70451902 + Silent SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 70451902 70451902 G T SNP ZNF821 NM_017530 human genbank 54_36p -1 provisional silent c.633 p.P211 0.84 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2" - no_errors KIAA0174 9798 broad.mit.edu 36 16 70512211 70512211 + Silent SNP A A G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 70512211 70512211 A G SNP KIAA0174 NM_014761 human genbank 54_36p 1 provisional silent c.426 p.G142 1 NULL HMMPfam_DUF292 - no_errors DHODH 1723 broad.mit.edu 36 16 70603664 70603664 + Splice_Site SNP T T A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 70603664 70603664 T A SNP DHODH NM_001361 human genbank 54_36p 1 reviewed splice_site c.234+2 e2+2 1 - - - no_errors TXNL4B 54957 broad.mit.edu 36 16 70678142 70678142 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 70678142 70678142 C A SNP TXNL4B NM_017853 human genbank 54_36p -1 validated missense c.345 p.L115F 1 "superfamily_Thiordxn-like_fd,HMMPfam_DIM1" "superfamily_Thiordxn-like_fd,HMMPfam_DIM1" - no_errors ZFHX3 463 broad.mit.edu 36 16 71380038 71380038 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 71380038 71380038 G T SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated missense c.9638 p.P3213Q 0.32 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors CLEC18B 497190 broad.mit.edu 36 16 73005011 73005011 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 73005011 73005011 G A SNP CLEC18B NM_001011880 human genbank 54_36p -1 validated missense c.521 p.A174V 0 "superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP" "superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors CLEC18B 497190 broad.mit.edu 36 16 73005038 73005038 + Missense_Mutation SNP C C T rs58016779 Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 73005038 73005038 C T SNP CLEC18B NM_001011880 human genbank 54_36p -1 validated missense c.494 p.R165Q 0.83 "HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like" "HMMSmart_SM00198,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_SCP,superfamily_PR-1-like,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1" - no_errors WDR59 79726 broad.mit.edu 36 16 73477795 73477795 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 73477795 73477795 G A SNP WDR59 NM_030581 human genbank 54_36p -1 validated missense c.2420 p.A807V 0.03 NULL "HMMSmart_SM00320,PatternScan_EGF_LAM_1,HMMSmart_SM00591,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors ZFP1 162239 broad.mit.edu 36 16 73761359 73761359 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 73761359 73761359 A T SNP ZFP1 NM_153688 human genbank 54_36p 1 validated missense c.850 p.T284S 0.04 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CHST6 4166 broad.mit.edu 36 16 74070482 74070482 + Missense_Mutation SNP T T A rs72547540 Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 74070482 74070482 T A SNP CHST6 NM_021615 human genbank 54_36p -1 provisional missense c.746 p.H249L 1 "superfamily_SSF52540,HMMPfam_Sulfotransfer_1" "superfamily_SSF52540,HMMPfam_Sulfotransfer_1" - no_errors CHST5 23563 broad.mit.edu 36 16 74121154 74121154 + Silent SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 74121154 74121154 G C SNP CHST5 NM_024533 human genbank 54_36p -1 validated silent c.630 p.L210 0.99 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors ADAT1 23536 broad.mit.edu 36 16 74208646 74208646 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 74208646 74208646 C A SNP ADAT1 NM_012091 human genbank 54_36p -1 reviewed missense c.319 p.A107S 0.88 "HMMSmart_SM00552,HMMPfam_A_deamin" "HMMSmart_SM00552,HMMPfam_A_deamin" - no_errors KARS 3735 broad.mit.edu 36 16 74220011 74220011 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 74220011 74220011 A T SNP KARS NM_005548 human genbank 54_36p -1 reviewed missense c.1652 p.I551N 1 "HMMPfam_tRNA-synt_2,superfamily_SSF55681" "superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_SSF55681" - no_errors CNTNAP4 85445 broad.mit.edu 36 16 75044030 75044030 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 75044030 75044030 G A SNP CNTNAP4 NM_138994 human genbank 54_36p 1 validated missense c.977 p.R326Q 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP4 85445 broad.mit.edu 36 16 75086371 75086371 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 75086371 75086371 C G SNP CNTNAP4 NM_138994 human genbank 54_36p 1 validated missense c.1925 p.S642C 0.99 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors CNTNAP4 85445 broad.mit.edu 36 16 75126959 75126959 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 75126959 75126959 A G SNP CNTNAP4 NM_033401 human genbank 54_36p 1 reviewed missense c.2771 p.D924G 0.99 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP4 85445 broad.mit.edu 36 16 75150013 75150013 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 75150013 75150013 G A SNP CNTNAP4 NM_138994 human genbank 54_36p 1 validated missense c.3640 p.A1214T 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors ADAMTS18 170692 broad.mit.edu 36 16 75958960 75958971 + In_Frame_Del DEL GCCGGGGTAGCC - GCCGGGGTAGCC novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 GCCGGGGTAGCC GCCGGGGTAGCC - - GCCGGGGTAGCC GCCGGGGTAGCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 16 75958960 75958971 GCCGGGGTAGCC - DEL ADAMTS18 NM_199355 human genbank 54_36p -1 reviewed in_frame_del c.657_646 p.GYPG216in_frame_del 0.000:0.000:0.000:0.000:0.004:0.005:0.004:0.002:0.000:0.001:0.000:0.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" "(deletion:cds_exon[75958839,75959121])" no_errors NUDT7 283927 broad.mit.edu 36 16 76316983 76316983 + Splice_Site SNP G G T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 76316983 76316983 G T SNP NUDT7 NM_001105663 human genbank 54_36p 1 reviewed splice_site c.189+1 e2+1 1 - - - no_errors PKD1L2 114780 broad.mit.edu 36 16 79745444 79745444 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 79745444 79745444 C A SNP PKD1L2 ENST00000299598 human ensembl 54_36p -1 known missense c.4126 p.V1376L 1 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_PKD_channel,PatternScan_CHANNEL_COLICIN" - no_errors PKD1L2 114780 broad.mit.edu 36 16 79748026 79748026 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 79748026 79748026 C T SNP PKD1L2 ENST00000299598 human ensembl 54_36p -1 known missense c.4064 p.C1355Y 0.97 NULL "HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like" - no_errors PKD1L2 114780 broad.mit.edu 36 16 79776673 79776673 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 79776673 79776673 C G SNP PKD1L2 NM_001076780 human genbank 54_36p -1 reviewed missense c.1922 p.R641T 0 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" - no_errors PKD1L2 114780 broad.mit.edu 36 16 79811342 79811342 + Silent SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 79811342 79811342 G A SNP PKD1L2 NM_001076780 human genbank 54_36p -1 reviewed silent c.135 p.L45 0 "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" - no_errors PLCG2 5336 broad.mit.edu 36 16 80529930 80529930 + Silent SNP C C G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 80529930 80529930 C G SNP PLCG2 NM_002661 human genbank 54_36p 1 validated silent c.3222 p.P1074 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" ############################################################################################################################################################################################################################################################### - no_errors TAF1C 9013 broad.mit.edu 36 16 82770694 82770694 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 82770694 82770694 G A SNP TAF1C NM_005679 human genbank 54_36p -1 reviewed missense c.1964 p.A655V 0.43 NULL NULL - no_errors ADAD2 161931 broad.mit.edu 36 16 82786063 82786063 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 82786063 82786063 C T SNP ADAD2 NM_139174 human genbank 54_36p 1 validated missense c.799 p.P267S 0.15 NULL "HMMPfam_dsrm,HMMPfam_A_deamin" - no_errors KIAA1609 57707 broad.mit.edu 36 16 83077936 83077936 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 83077936 83077936 T C SNP KIAA1609 NM_020947 human genbank 54_36p -1 validated missense c.760 p.I254V 0.4 HMMSmart_SM00584 "HMMSmart_SM00584,HMMPfam_TLD" - no_errors KIAA1609 57707 broad.mit.edu 36 16 83080502 83080502 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 83080502 83080502 C A SNP KIAA1609 NM_020947 human genbank 54_36p -1 validated missense c.412 p.V138L 0.96 NULL "HMMPfam_TLD,HMMSmart_SM00584" - no_errors FAM92B 339145 broad.mit.edu 36 16 83696482 83696482 + Silent SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 83696482 83696482 C A SNP FAM92B NM_198491 human genbank 54_36p -1 predicted silent c.489 p.L163 1 HMMPfam_DUF1208 HMMPfam_DUF1208 - no_errors IRF8 3394 broad.mit.edu 36 16 84494231 84494231 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 84494231 84494231 C T SNP IRF8 NM_002163 human genbank 54_36p 1 reviewed missense c.109 p.R37W 1 "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF" "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,HMMPfam_IRF-3,superfamily_SMAD_FHA" - no_errors FOXF1 2294 broad.mit.edu 36 16 85104034 85104036 + Missense_Mutation TNP ATC ATC TGT novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 ATC ATC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 85104034 85104036 ATC TGT TNP FOXF1 NM_001451 human genbank 54_36p 1 reviewed missense c.982_984 p.I328C 1.000:1.000:1.000 NULL "HMMPfam_Fork_head,HMMSmart_FH,PatternScan_FORK_HEAD_1,PatternScan_FORK_HEAD_2,superfamily_SSF46785" - no_errors FOXC2 2303 broad.mit.edu 36 16 85158901 85158901 + Nonsense_Mutation SNP C C G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 85158901 85158901 C G SNP FOXC2 NM_005251 human genbank 54_36p 1 reviewed nonsense c.459 p.Y153* 1 "HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head" "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors ZCCHC14 23174 broad.mit.edu 36 16 86011726 86011726 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 86011726 86011726 T C SNP ZCCHC14 NM_015144 human genbank 54_36p -1 validated missense c.527 p.D176G 1 superfamily_PX domain "superfamily_PX domain,HMMPfam_SAM_1,superfamily_SAM/Pointed domain,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors JPH3 57338 broad.mit.edu 36 16 86235798 86235798 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 86235798 86235798 G T SNP JPH3 NM_020655 human genbank 54_36p 1 reviewed missense c.816 p.E272D 1 NULL "superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN" - no_errors CA5A 763 broad.mit.edu 36 16 86482930 86482930 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 86482930 86482930 C A SNP CA5A NM_001739 human genbank 54_36p -1 reviewed missense c.750 p.E250D 0.76 "HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase" "HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1" - no_errors ZFPM1 161882 broad.mit.edu 36 16 87128758 87128767 + Frame_Shift_Del DEL CGCCGGCGCC - CGCCGGCGCC novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W CGCCGGCGCC CGCCGGCGCC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87128758 87128767 CGCCGGCGCC - DEL ZFPM1 NM_153813 human genbank 54_36p 1 validated frame_shift_del c.2891_2900 p.T964fs 0.006:0.014:0.016:0.016:0.001:0.005:0.004:0.002:0.016:0.011 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[87127057,87128888])" no_errors ZFPM1 161882 broad.mit.edu 36 16 87128759 87128759 + Silent SNP G G C novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87128759 87128759 G C SNP ZFPM1 NM_153813 human genbank 54_36p 1 validated silent c.2892 p.T964 0.01 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZC3H18 124245 broad.mit.edu 36 16 87193846 87193846 + Silent SNP C C G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87193846 87193846 C G SNP ZC3H18 NM_144604 human genbank 54_36p 1 provisional silent c.1077 p.V359 1 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors MVD 4597 broad.mit.edu 36 16 87251854 87251854 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87251854 87251854 G A SNP MVD NM_002461 human genbank 54_36p -1 reviewed nonsense c.226 p.Q76* 1 superfamily_Ribosomal_S5_D2-typ_fold "superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_GHMP_kinases_N,superfamily_SSF55060,HMMPfam_GHMP_kinases_C" - no_errors SNAI3 333929 broad.mit.edu 36 16 87275107 87275107 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 87275107 87275107 A G SNP SNAI3 NM_178310 human genbank 54_36p -1 validated missense c.593 p.L198P 1 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,superfamily_SSF57667" - no_errors CDH15 1013 broad.mit.edu 36 16 87784315 87784315 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87784315 87784315 G A SNP CDH15 NM_004933 human genbank 54_36p 1 reviewed missense c.1142 p.R381Q 0.02 "superfamily_Cadherin,HMMPfam_Cadherin" "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors ANKRD11 29123 broad.mit.edu 36 16 87874531 87874531 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 87874531 87874531 G A SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated missense c.5920 p.P1974S 0.57 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors ANKRD11 29123 broad.mit.edu 36 16 87875898 87875898 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 87875898 87875898 G C SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated missense c.4553 p.S1518C 1 superfamily_Ankyrin repeat "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD11 29123 broad.mit.edu 36 16 87877556 87877556 + Silent SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87877556 87877556 C T SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated silent c.2895 p.R965 0 superfamily_Ankyrin repeat "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD11 29123 broad.mit.edu 36 16 87879044 87879044 + Silent SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 87879044 87879044 G A SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated silent c.1407 p.F469 1 superfamily_Ankyrin repeat "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD11 29123 broad.mit.edu 36 16 87885088 87885088 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 87885088 87885088 C G SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated missense c.231 p.K77N 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD11 29123 broad.mit.edu 36 16 87910856 87910856 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 87910856 87910856 G C SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated missense c.73 p.Q25E 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors SPG7 6687 broad.mit.edu 36 16 88104410 88104410 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88104410 88104410 G A SNP SPG7 NM_003119 human genbank 54_36p 1 reviewed silent c.195 p.L65 0 NULL "HMMPfam_FtsH_ext,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,HMMPfam_Peptidase_M41" - no_errors CPNE7 27132 broad.mit.edu 36 16 88178713 88178714 + Missense_Mutation DNP GA GA TC novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88178713 88178714 GA TC DNP CPNE7 NM_014427 human genbank 54_36p 1 reviewed missense c.763_764 p.E255S 1.000:1.000 "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" "HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine" - no_errors CHMP1A 5119 broad.mit.edu 36 16 88239867 88239867 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88239867 88239867 C G SNP CHMP1A NM_001083314 human genbank 54_36p -1 validated missense c.679 p.A227P 0 NULL NULL - no_errors CDK10 8558 broad.mit.edu 36 16 88286410 88286410 + Missense_Mutation SNP A A G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 16 88286410 88286410 A G SNP CDK10 NM_052988 human genbank 54_36p 1 reviewed missense c.470 p.N157S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors C16orf7 9605 broad.mit.edu 36 16 88303685 88303685 + Splice_Site SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88303685 88303685 C G SNP C16orf7 NM_004913 human genbank 54_36p -1 validated splice_site c.1388+1 e11+1 1 - - - no_errors TCF25 22980 broad.mit.edu 36 16 88486128 88486129 + Missense_Mutation DNP CC CC TT novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88486128 88486129 CC TT DNP TCF25 NM_014972 human genbank 54_36p 1 validated missense c.641_642 p.P214L 0.893:0.980 NULL HMMPfam_DUF654 - no_errors TCF25 22980 broad.mit.edu 36 16 88505005 88505005 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88505005 88505005 A C SNP TCF25 NM_014972 human genbank 54_36p 1 validated missense c.1889 p.E630A 0.11 NULL HMMPfam_DUF654 - no_errors TUBB3 10381 broad.mit.edu 36 16 88527464 88527464 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 88527464 88527464 T C SNP TUBB3 NM_006086 human genbank 54_36p 1 validated missense c.254 p.F85S 1 "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBB3 10381 broad.mit.edu 36 16 88529263 88529263 + Silent SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88529263 88529263 C T SNP TUBB3 NM_006086 human genbank 54_36p 1 validated silent c.903 p.A301 0.06 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN_B_AUTOREG,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors GAS8 2622 broad.mit.edu 36 16 88631217 88631217 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 88631217 88631217 G T SNP GAS8 NM_001481 human genbank 54_36p 1 reviewed missense c.833 p.R278L 0.99 NULL NULL - no_errors PRDM7 11105 broad.mit.edu 36 16 88654404 88654404 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 88654404 88654404 T C SNP PRDM7 NM_001098173 human genbank 54_36p -1 reviewed missense c.1079 p.E360G 0.17 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,HMMPfam_SSXRD" - no_errors PRDM7 11105 broad.mit.edu 36 16 88655922 88655922 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 16 88655922 88655922 C A SNP PRDM7 NM_001098173 human genbank 54_36p -1 reviewed missense c.790 p.A264S 0.73 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SSXRD" - no_errors C17orf97 400566 broad.mit.edu 36 17 263337 263337 + Silent SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 263337 263337 C T SNP C17orf97 NM_001013672 human genbank 54_36p 1 validated silent c.387 p.G129 0.01 NULL NULL - no_errors GEMIN4 50628 broad.mit.edu 36 17 597178 597178 + Silent SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 597178 597178 G A SNP GEMIN4 NM_015721 human genbank 54_36p -1 reviewed silent c.855 p.H285 0.73 NULL NULL - no_errors GEMIN4 50628 broad.mit.edu 36 17 597333 597333 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 597333 597333 C A SNP GEMIN4 NM_015721 human genbank 54_36p -1 reviewed missense c.700 p.G234W 0 NULL NULL - no_errors NXN 64359 broad.mit.edu 36 17 650996 650996 + Silent SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 650996 650996 G A SNP NXN NM_022463 human genbank 54_36p -1 validated silent c.1251 p.I417 0.98 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,HMMPfam_AhpC-TSA" - no_errors ABR 29 broad.mit.edu 36 17 975411 975411 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 975411 975411 C T SNP ABR NM_021962 human genbank 54_36p -1 reviewed missense c.103 p.E35K 1 NULL ############################################################################################################################################################################################################################################################### - no_errors YWHAE 7531 broad.mit.edu 36 17 1215037 1215037 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 1215037 1215037 G A SNP YWHAE NM_006761 human genbank 54_36p -1 reviewed missense c.130 p.L44F 1 "superfamily_14-3-3 protein,HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1" "superfamily_14-3-3 protein,HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,PatternScan_1433_2" - no_errors YWHAE 7531 broad.mit.edu 36 17 1250112 1250112 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 1250112 1250112 C A SNP YWHAE NM_006761 human genbank 54_36p -1 reviewed nonsense c.43 p.E15* 1 "HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein" "HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,PatternScan_1433_2,superfamily_14-3-3 protein" - no_errors SCARF1 8578 broad.mit.edu 36 17 1495264 1495264 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 1495264 1495264 A T SNP SCARF1 NM_003693 human genbank 54_36p -1 reviewed missense c.121 p.C41S 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Laminin_EGF,superfamily_Growth factor receptor domain" - no_errors RILP 83547 broad.mit.edu 36 17 1496501 1496501 + Silent SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 1496501 1496501 G A SNP RILP NM_031430 human genbank 54_36p -1 validated silent c.1191 p.A397 0 NULL "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_Jnk-SapK_ap_N" - no_errors RILP 83547 broad.mit.edu 36 17 1498431 1498432 + Missense_Mutation DNP CT CT TC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 1498431 1498432 CT TC DNP RILP NM_031430 human genbank 54_36p -1 validated missense c.784_783 p.V262M 0.999:0.984 NULL "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_Jnk-SapK_ap_N" - no_errors RILP 83547 broad.mit.edu 36 17 1498438 1498438 + Silent SNP T T C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 1498438 1498438 T C SNP RILP NM_031430 human genbank 54_36p -1 validated silent c.777 p.K259 1 NULL "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_Jnk-SapK_ap_N" - no_errors PRPF8 10594 broad.mit.edu 36 17 1510542 1510542 + Silent SNP G G A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 1510542 1510542 G A SNP PRPF8 NM_006445 human genbank 54_36p -1 reviewed silent c.4719 p.L1573 1 HMMPfam_U6-snRNA_bdg "HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_RRM_4,HMMPfam_U5_2-snRNA_bdg,HMMPfam_U6-snRNA_bdg,HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PROCT" - no_errors WDR81 124997 broad.mit.edu 36 17 1578265 1578271 + Frame_Shift_Del DEL GGGCTCT - - novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W GGGCTCT GGGCTCT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 1578265 1578271 GGGCTCT - DEL WDR81 ENST00000409644 human ensembl 54_36p 1 known frame_shift_del c.3262_3268 p.G1088fs 0.895:0.909:0.901:0.997:1.000:0.998:1.000 superfamily_WD40 repeat-like "superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,PatternScan_FBPASE,HMMSmart_SM00320,HMMPfam_WD40" "(deletion:cds_exon[1575004,1578670])" no_errors WDR81 124997 broad.mit.edu 36 17 1582502 1582502 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 1582502 1582502 G C SNP WDR81 ENST00000409644 human ensembl 54_36p 1 known missense c.4291 p.V1431L 0.86 superfamily_WD40 repeat-like "superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,PatternScan_FBPASE,HMMSmart_SM00320,HMMPfam_WD40" - no_errors METT10D 79066 broad.mit.edu 36 17 2270377 2270377 + Silent SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 2270377 2270377 G A SNP METT10D NM_024086 human genbank 54_36p -1 validated silent c.1326 p.A442 0 NULL "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_10" - no_errors KIAA0664 23277 broad.mit.edu 36 17 2551228 2551228 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 2551228 2551228 G C SNP KIAA0664 NM_015229 human genbank 54_36p -1 validated missense c.867 p.I289M 1 superfamily_SSF103107 "superfamily_SSF103107,superfamily_SSF48452" - no_errors OR1D5 8386 broad.mit.edu 36 17 2912824 2912824 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 2912824 2912824 C A SNP OR1D5 NM_014566 human genbank 54_36p -1 provisional missense c.828 p.M276I 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR1D2 4991 broad.mit.edu 36 17 2942515 2942515 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 2942515 2942515 A T SNP OR1D2 NM_002548 human genbank 54_36p -1 provisional missense c.526 p.Y176N 0.91 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR3A2 4995 broad.mit.edu 36 17 3128274 3128274 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 3128274 3128274 G A SNP OR3A2 NM_002551 human genbank 54_36p -1 validated nonsense c.706 p.R236* 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR3A1 4994 broad.mit.edu 36 17 3141985 3141985 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 3141985 3141985 C T SNP OR3A1 NM_002550 human genbank 54_36p -1 provisional missense c.642 p.M214I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TRPV3 162514 broad.mit.edu 36 17 3374353 3374353 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 3374353 3374353 G A SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed silent c.1632 p.Y544 1 HMMPfam_Ion_trans "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors TRPV3 162514 broad.mit.edu 36 17 3404841 3404841 + Silent SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 3404841 3404841 G C SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed silent c.54 p.A18 0 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans" - no_errors TRPV1 7442 broad.mit.edu 36 17 3440376 3440376 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 3440376 3440376 C T SNP TRPV1 ENST00000399756 human ensembl 54_36p -1 known missense c.664 p.V222M 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors SHPK 23729 broad.mit.edu 36 17 3471376 3471376 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 3471376 3471376 T C SNP SHPK NM_013276 human genbank 54_36p -1 reviewed missense c.727 p.M243V 0 "superfamily_Actin-like ATPase domain,HMMPfam_FGGY_N" "superfamily_Actin-like ATPase domain,HMMPfam_FGGY_N" - no_errors P2RX5 5026 broad.mit.edu 36 17 3531948 3531949 + Missense_Mutation DNP TC TC AA novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 3531948 3531949 TC AA DNP P2RX5 NM_002561 human genbank 54_36p -1 reviewed missense c.1055_1054 p.E352L 0.983:0.984 HMMPfam_P2X_receptor "HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR" - no_errors ITGAE 3682 broad.mit.edu 36 17 3598010 3598010 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 3598010 3598010 G A SNP ITGAE NM_002208 human genbank 54_36p -1 reviewed missense c.2110 p.R704C 0 "HMMPfam_Integrin_alpha2,superfamily_SSF69179" "superfamily_SSF69318,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ATP2A3 489 broad.mit.edu 36 17 3778345 3778345 + Silent SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 3778345 3778345 C T SNP ATP2A3 NM_174953 human genbank 54_36p -1 reviewed silent c.3006 p.R1002 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors ATP2A3 489 broad.mit.edu 36 17 3797746 3797746 + Silent SNP G G T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 3797746 3797746 G T SNP ATP2A3 NM_174953 human genbank 54_36p -1 reviewed silent c.783 p.S261 1 "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M" ############################################################################################################################################################################################################################################################### - no_errors ZZEF1 23140 broad.mit.edu 36 17 3900829 3900829 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 3900829 3900829 C G SNP ZZEF1 NM_015113 human genbank 54_36p -1 validated missense c.5858 p.G1953A 1 NULL "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,superfamily_Galactose-binding domain-like,HMMPfam_APC10,superfamily_Spermadhesin CUB domain,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors CYB5D2 124936 broad.mit.edu 36 17 4007036 4007036 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4007036 4007036 C A SNP CYB5D2 NM_144611 human genbank 54_36p 1 validated missense c.706 p.H236N 0.85 NULL "PatternScan_CYTOCHROME_B5_1,superfamily_Cyt_B5,HMMPfam_Cyt-b5" - no_errors ANKFY1 51479 broad.mit.edu 36 17 4023399 4023399 + Silent SNP T T G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4023399 4023399 T G SNP ANKFY1 NM_016376 human genbank 54_36p -1 validated silent c.3016 p.R1006 0.98 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "HMMPfam_BTB,HMMSmart_BTB,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors ANKFY1 51479 broad.mit.edu 36 17 4059983 4059983 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4059983 4059983 T A SNP ANKFY1 NM_016376 human genbank 54_36p -1 validated missense c.467 p.K156M 1 "HMMSmart_BTB,superfamily_ANK,HMMPfam_BTB" "HMMSmart_BTB,HMMPfam_FYVE,HMMSmart_FYVE,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_FYVE_PHD_ZnF,HMMPfam_BTB" - no_errors ANKFY1 51479 broad.mit.edu 36 17 4092424 4092424 + Silent SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4092424 4092424 G A SNP ANKFY1 NM_016376 human genbank 54_36p -1 validated silent c.79 p.L27 1 NULL "HMMSmart_BTB,HMMPfam_FYVE,HMMSmart_FYVE,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_FYVE_PHD_ZnF,HMMPfam_BTB" - no_errors SPNS3 201305 broad.mit.edu 36 17 4284121 4284122 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4284121 4284122 GG TT DNP SPNS3 NM_182538 human genbank 54_36p 1 validated missense c.110_111 p.W37F 1.000:1.000 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors MYBBP1A 10514 broad.mit.edu 36 17 4389768 4389768 + Silent SNP C C T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4389768 4389768 C T SNP MYBBP1A NM_001105538 human genbank 54_36p -1 validated silent c.3678 p.G1226 0 NULL "superfamily_ARM-type_fold,HMMPfam_DNA_pol_phi" - no_errors MYBBP1A 10514 broad.mit.edu 36 17 4400238 4400238 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4400238 4400238 C G SNP MYBBP1A NM_001105538 human genbank 54_36p -1 validated missense c.1183 p.V395L 0.96 "HMMPfam_DNA_pol_phi,superfamily_ARM-type_fold" "HMMPfam_DNA_pol_phi,superfamily_ARM-type_fold" - no_errors MYBBP1A 10514 broad.mit.edu 36 17 4402653 4402653 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4402653 4402653 C A SNP MYBBP1A NM_001105538 human genbank 54_36p -1 validated missense c.579 p.L193F 0.98 "HMMPfam_DNA_pol_phi,superfamily_ARM-type_fold" "HMMPfam_DNA_pol_phi,superfamily_ARM-type_fold" - no_errors ALOX15 246 broad.mit.edu 36 17 4489165 4489165 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 4489165 4489165 C A SNP ALOX15 NM_001140 human genbank 54_36p -1 validated missense c.349 p.G117C 0 superfamily_Lipoxygenase "HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2" - no_errors MED11 400569 broad.mit.edu 36 17 4581930 4581930 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4581930 4581930 C A SNP MED11 NM_001001683 human genbank 54_36p 1 provisional missense c.196 p.Q66K 1 HMMPfam_Med11 HMMPfam_Med11 - no_errors ZMYND15 84225 broad.mit.edu 36 17 4595395 4595395 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4595395 4595395 G C SNP ZMYND15 NM_032265 human genbank 54_36p 1 provisional missense c.1916 p.R639T 1 NULL "PatternScan_ZF_MYND_1,HMMPfam_zf-MYND" - no_errors VMO1 284013 broad.mit.edu 36 17 4636339 4636339 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4636339 4636339 G A SNP VMO1 NM_182566 human genbank 54_36p -1 validated missense c.49 p.R17W 0.01 NULL "superfamily_VOMI,HMMPfam_VOMI" - no_errors PLD2 5338 broad.mit.edu 36 17 4658070 4658070 + Silent SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4658070 4658070 C T SNP PLD2 NM_002663 human genbank 54_36p 1 validated silent c.39 p.D13 0.21 NULL "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155" - no_errors PLD2 5338 broad.mit.edu 36 17 4667228 4667229 + Frame_Shift_Del DEL TG - TG novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D TG TG - - TG TG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 4667228 4667229 TG - DEL PLD2 NM_002663 human genbank 54_36p 1 validated frame_shift_del c.1613_1614 p.M538fs 1.000:1.000 superfamily_Phospholipase D/nuclease "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155" "(deletion:cds_exon[4667198,4667316])" no_errors MINK1 50488 broad.mit.edu 36 17 4735114 4735114 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 4735114 4735114 C A SNP MINK1 NM_153827 human genbank 54_36p 1 reviewed missense c.1642 p.P548T 0.67 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPAG7 9552 broad.mit.edu 36 17 4803656 4803656 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4803656 4803656 C T SNP SPAG7 NM_004890 human genbank 54_36p -1 validated missense c.580 p.V194M 1 NULL "HMMSmart_R3H,superfamily_SSF82708,HMMPfam_R3H" - no_errors ZNF232 7775 broad.mit.edu 36 17 4950517 4950517 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 4950517 4950517 C A SNP ZNF232 NM_014519 human genbank 54_36p -1 validated nonsense c.661 p.E221* 0.44 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF594 84622 broad.mit.edu 36 17 5027025 5027025 + Silent SNP T T A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 5027025 5027025 T A SNP ZNF594 NM_032530 human genbank 54_36p -1 validated silent c.1251 p.S417 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors C17orf87 388325 broad.mit.edu 36 17 5054892 5054892 + Silent SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 5054892 5054892 T G SNP C17orf87 NM_207103 human genbank 54_36p -1 predicted silent c.366 p.P122 0 NULL NULL - no_errors RABEP1 9135 broad.mit.edu 36 17 5205465 5205465 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 17 5205465 5205465 C G SNP RABEP1 NM_004703 human genbank 54_36p 1 validated missense c.1334 p.A445G 1 NULL "HMMPfam_Rabaptin,HMMPfam_Rab5-bind" - no_errors C1QBP 708 broad.mit.edu 36 17 5282175 5282175 + Silent SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 5282175 5282175 G C SNP C1QBP NM_001212 human genbank 54_36p -1 reviewed silent c.375 p.A125 0.79 "superfamily_MAM33,HMMPfam_MAM33" "superfamily_MAM33,HMMPfam_MAM33" - no_errors DHX33 56919 broad.mit.edu 36 17 5288534 5288534 + Silent SNP G G T novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 5288534 5288534 G T SNP DHX33 NM_020162 human genbank 54_36p -1 reviewed silent c.1839 p.S613 0.94 HMMPfam_DUF1605 "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors NLRP1 22861 broad.mit.edu 36 17 5403432 5403432 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 5403432 5403432 C T SNP NLRP1 NM_033004 human genbank 54_36p -1 reviewed silent c.1308 p.A436 0.01 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT" "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,HMMPfam_LRR_1,HMMPfam_CARD" - no_errors PITPNM3 83394 broad.mit.edu 36 17 6314378 6314378 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 6314378 6314378 T G SNP PITPNM3 NM_031220 human genbank 54_36p -1 validated missense c.1699 p.T567P 1 HMMPfam_DDHD "HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors TXNDC17 84817 broad.mit.edu 36 17 6486997 6486997 + Silent SNP T T G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 6486997 6486997 T G SNP TXNDC17 NM_032731 human genbank 54_36p 1 validated silent c.306 p.P102 1 "superfamily_Thioredoxin-like,HMMPfam_DUF953" "superfamily_Thioredoxin-like,HMMPfam_DUF953" - no_errors FBXO39 162517 broad.mit.edu 36 17 6624415 6624415 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 6624415 6624415 C A SNP FBXO39 NM_153230 human genbank 54_36p 1 validated missense c.504 p.N168K 1 superfamily_SSF52047 "HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047" - no_errors ALOX12 239 broad.mit.edu 36 17 6854133 6854142 + Frame_Shift_Del DEL CATCTCATGG - CATCTCATGG novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 CATCTCATGG CATCTCATGG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 6854133 6854142 CATCTCATGG - DEL ALOX12 NM_000697 human genbank 54_36p 1 validated frame_shift_del c.1776_1785 p.S594fs 1.000:1.000:1.000:1.000:0.998:1.000:0.995:1.000:1.000:1.000 "superfamily_Lipoxygenase,HMMPfam_Lipoxygenase" "HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2" "(deletion:cds_exon[6853999,6854169])" no_errors DLG4 1742 broad.mit.edu 36 17 7037754 7037754 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7037754 7037754 C T SNP DLG4 NM_001365 human genbank 54_36p -1 reviewed missense c.1676 p.R559Q 1 superfamily_SH3 "HMMPfam_L27_1,HMMPfam_MAGUK_N_PEST,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_PDZ_assoc,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C" - no_errors DLG4 1742 broad.mit.edu 36 17 7040849 7040849 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7040849 7040849 C T SNP DLG4 NM_001365 human genbank 54_36p -1 reviewed missense c.1163 p.G388D 1 "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ" "HMMSmart_SH3,superfamily_SH3,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_Guanylate_kin,HMMSmart_GuKc,HMMPfam_SH3_2,HMMPfam_L27_1,HMMPfam_PDZ_assoc,HMMPfam_Gua_kin_assoc_C,HMMPfam_MAGUK_N_PEST,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540" - no_errors SLC2A4 6517 broad.mit.edu 36 17 7128314 7128314 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7128314 7128314 G C SNP SLC2A4 NM_001042 human genbank 54_36p 1 reviewed missense c.619 p.G207R 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors NEURL4 84461 broad.mit.edu 36 17 7169370 7169370 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7169370 7169370 C T SNP NEURL4 NM_032442 human genbank 54_36p -1 validated missense c.1513 p.G505S 1 NULL "HMMPfam_Neuralized,HMMSmart_SM00588" - no_errors NEURL4 84461 broad.mit.edu 36 17 7170587 7170587 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7170587 7170587 C T SNP NEURL4 NM_032442 human genbank 54_36p -1 validated missense c.1097 p.R366H 1 "HMMPfam_Neuralized,HMMSmart_SM00588" "HMMPfam_Neuralized,HMMSmart_SM00588" - no_errors PLSCR3 57048 broad.mit.edu 36 17 7237407 7237407 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7237407 7237407 G A SNP PLSCR3 NM_020360 human genbank 54_36p -1 provisional missense c.287 p.T96M 1 HMMPfam_Scramblase HMMPfam_Scramblase - no_errors CHRNB1 1140 broad.mit.edu 36 17 7289199 7289199 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7289199 7289199 T C SNP CHRNB1 NM_000747 human genbank 54_36p 1 reviewed missense c.29 p.L10P 0.98 NULL "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors CHRNB1 1140 broad.mit.edu 36 17 7299354 7299354 + Silent SNP C C T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7299354 7299354 C T SNP CHRNB1 NM_000747 human genbank 54_36p 1 reviewed silent c.1072 p.L358 0.97 "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM" "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL" - no_errors ZBTB4 57659 broad.mit.edu 36 17 7306308 7306308 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7306308 7306308 C T SNP ZBTB4 NM_020899 human genbank 54_36p -1 validated missense c.2717 p.R906Q 0.98 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZBTB4 57659 broad.mit.edu 36 17 7307108 7307108 + Silent SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7307108 7307108 G A SNP ZBTB4 NM_020899 human genbank 54_36p -1 validated silent c.1917 p.D639 0 NULL "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors EIF4A1 1973 broad.mit.edu 36 17 7420652 7420652 + Silent SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7420652 7420652 G A SNP EIF4A1 NM_001416 human genbank 54_36p 1 validated silent c.432 p.V144 0.95 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors EIF4A1 1973 broad.mit.edu 36 17 7421681 7421681 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7421681 7421681 A G SNP EIF4A1 NM_001416 human genbank 54_36p 1 validated missense c.839 p.N280S 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors EFNB3 1949 broad.mit.edu 36 17 7552491 7552491 + Silent SNP G G C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7552491 7552491 G C SNP EFNB3 NM_001406 human genbank 54_36p 1 reviewed silent c.429 p.G143 1 "HMMPfam_Ephrin,superfamily_Cupredoxins" "HMMPfam_Ephrin,superfamily_Cupredoxins,PatternScan_EPHRIN" - no_errors DNAH2 146754 broad.mit.edu 36 17 7622388 7622388 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7622388 7622388 G A SNP DNAH2 NM_020877 human genbank 54_36p 1 validated missense c.5417 p.G1806D 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors KDM6B 23135 broad.mit.edu 36 17 7695218 7695218 + Silent SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7695218 7695218 C T SNP JMJD3 NM_001080424 human genbank 54_36p 1 provisional silent c.3828 p.T1276 1 NULL "HMMSmart_SM00558,HMMPfam_JmjC" - no_errors ALOXE3 59344 broad.mit.edu 36 17 7959091 7959091 + Silent SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7959091 7959091 G A SNP ALOXE3 NM_021628 human genbank 54_36p -1 validated silent c.444 p.I148 0.99 superfamily_Lipoxygenase "HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2" - no_errors PER1 5187 broad.mit.edu 36 17 7987845 7987845 + Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7987845 7987845 G A SNP PER1 NM_002616 human genbank 54_36p -1 reviewed nonsense c.2536 p.Q846* 0.7 NULL "HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3" - no_errors PER1 5187 broad.mit.edu 36 17 7990083 7990083 + Silent SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7990083 7990083 C A SNP PER1 NM_002616 human genbank 54_36p -1 reviewed silent c.2136 p.A712 0.89 NULL "HMMSmart_SM00091,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain)" - no_errors PER1 5187 broad.mit.edu 36 17 7992067 7992067 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 7992067 7992067 G C SNP PER1 NM_002616 human genbank 54_36p -1 reviewed missense c.1207 p.P403A 1 "HMMSmart_SM00091,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain)" "HMMSmart_SM00091,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain)" - no_errors C17orf68 80169 broad.mit.edu 36 17 8080294 8080294 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 8080294 8080294 C T SNP C17orf68 NM_025099 human genbank 54_36p -1 validated missense c.884 p.R295H 0 NULL NULL - no_errors ARHGEF15 22899 broad.mit.edu 36 17 8157081 8157081 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 8157081 8157081 C T SNP ARHGEF15 NM_173728 human genbank 54_36p 1 reviewed missense c.718 p.R240W 0.99 NULL "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729" - no_errors WDR16 146845 broad.mit.edu 36 17 9476937 9476937 + Silent SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 9476937 9476937 C T SNP WDR16 NM_145054 human genbank 54_36p 1 validated silent c.1182 p.N394 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors GLP2R 9340 broad.mit.edu 36 17 9701481 9701481 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 9701481 9701481 C T SNP GLP2R NM_004246 human genbank 54_36p 1 reviewed missense c.628 p.R210C 1 HMMPfam_7tm_2 "PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF111418,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2" - no_errors GLP2R 9340 broad.mit.edu 36 17 9731991 9731991 + Silent SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 9731991 9731991 G A SNP GLP2R NM_004246 human genbank 54_36p 1 reviewed silent c.1302 p.L434 0.93 HMMPfam_7tm_2 "HMMPfam_7tm_2,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF111418" - no_errors MYH13 8735 broad.mit.edu 36 17 10157251 10157251 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 10157251 10157251 G T SNP MYH13 NM_003802 human genbank 54_36p -1 validated missense c.4130 p.T1377N 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors MYH13 8735 broad.mit.edu 36 17 10164398 10164398 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 10164398 10164398 C A SNP MYH13 NM_003802 human genbank 54_36p -1 validated missense c.3252 p.L1084F 0.96 "HMMPfam_Myosin_tail_1,superfamily_Prefoldin" "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH13 8735 broad.mit.edu 36 17 10168138 10168138 + Missense_Mutation SNP G G C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 10168138 10168138 G C SNP MYH13 NM_003802 human genbank 54_36p -1 validated missense c.2860 p.L954V 1 superfamily_Prefoldin "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH13 8735 broad.mit.edu 36 17 10190737 10190737 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 10190737 10190737 C T SNP MYH13 NM_003802 human genbank 54_36p -1 validated silent c.1248 p.G416 0.87 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH13 8735 broad.mit.edu 36 17 10204062 10204062 + Nonsense_Mutation SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 10204062 10204062 A T SNP MYH13 NM_003802 human genbank 54_36p -1 validated nonsense c.585 p.Y195* 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH8 4626 broad.mit.edu 36 17 10243635 10243635 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 10243635 10243635 C T SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.3812 p.R1271Q 0.99 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH4 4622 broad.mit.edu 36 17 10287540 10287540 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 10287540 10287540 C A SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.5697 p.K1899N 0.95 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH4 4622 broad.mit.edu 36 17 10292436 10292436 + Splice_Site SNP A A T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 10292436 10292436 A T SNP MYH4 NM_017533 human genbank 54_36p -1 validated splice_site c.4656+2 e31+2 1 - - - no_errors MYH4 4622 broad.mit.edu 36 17 10301583 10301583 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 10301583 10301583 G T SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.1776 p.N592K 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 broad.mit.edu 36 17 10336548 10336548 + Silent SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 10336548 10336548 G A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed silent c.5730 p.A1910 0.99 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH1 4619 broad.mit.edu 36 17 10339040 10339040 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 10339040 10339040 C T SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.5399 p.R1800H 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH1 4619 broad.mit.edu 36 17 10345384 10345384 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 17 10345384 10345384 T G SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.3506 p.K1169T 1 HMMPfam_Myosin_tail_1 "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors MYH2 4620 broad.mit.edu 36 17 10370665 10370665 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 10370665 10370665 C T SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.4163 p.R1388H 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors MYH2 4620 broad.mit.edu 36 17 10383329 10383329 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 10383329 10383329 C T SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.1334 p.R445H 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540" - no_errors DNAH9 1770 broad.mit.edu 36 17 11463638 11463638 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 11463638 11463638 G A SNP DNAH9 NM_001372 human genbank 54_36p 1 reviewed missense c.1165 p.E389K 1 HMMPfam_DHC_N1 "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2" - no_errors DNAH9 1770 broad.mit.edu 36 17 11545237 11545237 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 11545237 11545237 C A SNP DNAH9 NM_001372 human genbank 54_36p 1 reviewed missense c.5099 p.T1700N 0.06 HMMPfam_DHC_N2 "HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH9 1770 broad.mit.edu 36 17 11813435 11813435 + Missense_Mutation SNP C C T rs9913494 "by-cluster,by-hapmap" TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 11813435 11813435 C T SNP DNAH9 NM_001372 human genbank 54_36p 1 reviewed missense c.13327 p.R4443C 0 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYOCD 93649 broad.mit.edu 36 17 12580341 12580341 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 12580341 12580341 C T SNP MYOCD NM_153604 human genbank 54_36p 1 provisional missense c.554 p.S185L 0 NULL "HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513" - no_errors HS3ST3A1 9955 broad.mit.edu 36 17 13340754 13340754 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 13340754 13340754 T G SNP HS3ST3A1 NM_006042 human genbank 54_36p -1 reviewed missense c.706 p.T236P 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors TEKT3 64518 broad.mit.edu 36 17 15175140 15175140 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 15175140 15175140 T A SNP TEKT3 NM_031898 human genbank 54_36p -1 reviewed missense c.488 p.E163V 1 HMMPfam_Tektin HMMPfam_Tektin - no_errors TRIM16 10626 broad.mit.edu 36 17 15475745 15475745 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 15475745 15475745 C A SNP TRIM16 NM_006470 human genbank 54_36p -1 reviewed missense c.1024 p.D342Y 1 NULL "HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors TRIM16 10626 broad.mit.edu 36 17 15476640 15476640 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 15476640 15476640 G T SNP TRIM16 NM_006470 human genbank 54_36p -1 reviewed nonsense c.923 p.S308* 0.98 NULL "HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00589,HMMSmart_SM00449,superfamily_B-box zinc-binding domain" - no_errors ADORA2B 136 broad.mit.edu 36 17 15819326 15819326 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 15819326 15819326 T G SNP ADORA2B NM_000676 human genbank 54_36p 1 reviewed missense c.944 p.V315G 0.83 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NCOR1 9611 broad.mit.edu 36 17 15936019 15936019 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 15936019 15936019 T C SNP NCOR1 NM_006311 human genbank 54_36p -1 reviewed missense c.2899 p.M967V 0.99 NULL "superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - no_errors TRPV2 51393 broad.mit.edu 36 17 16276091 16276092 + Frame_Shift_Ins INS - A - novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 16276091 16276092 - A INS TRPV2 NM_016113 human genbank 54_36p 1 reviewed frame_shift_ins c.1741_1742 p.E582fs 0.001:0.000 HMMPfam_Ion_trans "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_Ion_trans" - no_errors C17orf76 388341 broad.mit.edu 36 17 16288043 16288043 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 16288043 16288043 C G SNP C17orf76 NM_207387 human genbank 54_36p -1 validated missense c.362 p.R121P 1 NULL NULL - no_errors MPRIP 23164 broad.mit.edu 36 17 17002561 17002561 + Silent SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17002561 17002561 G T SNP MPRIP NM_015134 human genbank 54_36p 1 validated silent c.1566 p.P522 0.65 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors MPRIP 23164 broad.mit.edu 36 17 17002564 17002565 + Missense_Mutation DNP CC CC GG novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17002564 17002565 CC GG DNP MPRIP NM_015134 human genbank 54_36p 1 validated missense c.1569_1570 p.DP523EA 0.679:0.666 NULL "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" - no_errors MPRIP 23164 broad.mit.edu 36 17 17002754 17002786 + In_Frame_Del DEL CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG - CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17002754 17002786 CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG - DEL MPRIP NM_015134 human genbank 54_36p 1 validated in_frame_del c.1759_1791 p.RRREERRKRFG587in_frame_del 0.793:0.969:0.966:0.993:0.999:0.998:0.999:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.961:0.989:1.000:0.998:0.999:0.997:0.991:0.998:1.000:0.064:0.080:0.080:0.016:0.038:0.042:0.028 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "(deletion:cds_exon[17002471,17003041])" no_errors RAI1 10743 broad.mit.edu 36 17 17641239 17641239 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17641239 17641239 C G SNP RAI1 NM_030665 human genbank 54_36p 1 reviewed missense c.4252 p.L1418V 1 NULL HMMSmart_SM00249 - no_errors C17orf39 79018 broad.mit.edu 36 17 17902990 17902990 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17902990 17902990 C T SNP C17orf39 NM_024052 human genbank 54_36p 1 validated silent c.690 p.Y230 1 HMMPfam_Vac_ImportDeg HMMPfam_Vac_ImportDeg - no_errors C17orf39 79018 broad.mit.edu 36 17 17902999 17902999 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17902999 17902999 G A SNP C17orf39 NM_024052 human genbank 54_36p 1 validated missense c.699 p.M233I 1 HMMPfam_Vac_ImportDeg HMMPfam_Vac_ImportDeg - no_errors MYO15A 51168 broad.mit.edu 36 17 17990024 17990024 + Silent SNP A A T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 17990024 17990024 A T SNP MYO15A NM_016239 human genbank 54_36p 1 reviewed silent c.6387 p.A2129 0.97 "HMMSmart_SM00139,HMMPfam_MyTH4" ############################################################################################################################################################################################################################################################### - no_errors MYO15A 51168 broad.mit.edu 36 17 17995484 17995484 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 17995484 17995484 T A SNP MYO15A NM_016239 human genbank 54_36p 1 reviewed missense c.7705 p.F2569I 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MYO15A 51168 broad.mit.edu 36 17 18004036 18004036 + Silent SNP A A C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 18004036 18004036 A C SNP MYO15A NM_016239 human genbank 54_36p 1 reviewed silent c.9366 p.T3122 0.91 "HMMPfam_MyTH4,HMMSmart_SM00139" ############################################################################################################################################################################################################################################################### - no_errors ALKBH5 54890 broad.mit.edu 36 17 18028803 18028803 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 18028803 18028803 A G SNP ALKBH5 NM_017758 human genbank 54_36p 1 validated missense c.521 p.Q174R 1 NULL NULL - no_errors LLGL1 3996 broad.mit.edu 36 17 18079297 18079297 + Silent SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 18079297 18079297 C A SNP LLGL1 NM_004140 human genbank 54_36p 1 reviewed silent c.1230 p.A410 1 "superfamily_WD40 repeat-like,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_LLGL,HMMPfam_WD40" - no_errors FLII 2314 broad.mit.edu 36 17 18091253 18091253 + Silent SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 18091253 18091253 G A SNP FLII NM_002018 human genbank 54_36p -1 reviewed silent c.2631 p.L877 1 superfamily_SSF55753 "superfamily_SSF52047,HMMPfam_LRR_1,superfamily_SSF52058,HMMSmart_LRR_TYP,superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin" - no_errors TOP3A 7156 broad.mit.edu 36 17 18129514 18129514 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 18129514 18129514 C T SNP TOP3A NM_004618 human genbank 54_36p -1 reviewed missense c.1643 p.R548Q 1 "superfamily_Prokaryotic type I DNA topoisomerase,HMMPfam_Topoisom_bac,HMMSmart_SM00437" ############################################################################################################################################################################################################################################################### - no_errors SHMT1 6470 broad.mit.edu 36 17 18172818 18172818 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 17 18172818 18172818 A C SNP SHMT1 NM_004169 human genbank 54_36p -1 reviewed missense c.1423 p.F475V 1 superfamily_PLP-dependent transferases "superfamily_PLP-dependent transferases,HMMPfam_SHMT,PatternScan_SHMT" - no_errors LGALS9C 654346 broad.mit.edu 36 17 18327955 18327955 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 18327955 18327955 C A SNP LGALS9C NM_001040078 human genbank 54_36p 1 validated missense c.81 p.D27E 0.82 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin" "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin" - no_errors SLC5A10 125206 broad.mit.edu 36 17 18813408 18813408 + Silent SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 18813408 18813408 C T SNP SLC5A10 NM_152351 human genbank 54_36p 1 validated silent c.588 p.D196 0.99 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_2" - no_errors FAM83G 644815 broad.mit.edu 36 17 18815469 18815469 + Silent SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 18815469 18815469 C T SNP FAM83G NM_001039999 human genbank 54_36p -1 validated silent c.2400 p.T800 0.02 NULL "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors FAM83G 644815 broad.mit.edu 36 17 18822350 18822350 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 18822350 18822350 T A SNP FAM83G NM_001039999 human genbank 54_36p -1 validated missense c.1354 p.T452S 0.96 NULL "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors RNF112 7732 broad.mit.edu 36 17 19258701 19258701 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 19258701 19258701 G T SNP RNF112 NM_007148 human genbank 54_36p 1 reviewed missense c.1034 p.C345F 0.98 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - pseudogene ALDH3A2 224 broad.mit.edu 36 17 19515740 19515740 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 19515740 19515740 C T SNP ALDH3A2 NM_001031806 human genbank 54_36p 1 reviewed missense c.1322 p.P441L 1 NULL "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors SLC47A2 146802 broad.mit.edu 36 17 19550635 19550635 + Silent SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 19550635 19550635 G T SNP SLC47A2 NM_152908 human genbank 54_36p -1 validated silent c.867 p.G289 0.99 NULL HMMPfam_MatE - no_errors ALDH3A1 218 broad.mit.edu 36 17 19585023 19585023 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 19585023 19585023 A C SNP ALDH3A1 NM_000691 human genbank 54_36p -1 reviewed missense c.782 p.V261G 1 "superfamily_ALDH-like,HMMPfam_Aldedh" "superfamily_ALDH-like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors ULK2 9706 broad.mit.edu 36 17 19641529 19641529 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 19641529 19641529 C A SNP ULK2 NM_014683 human genbank 54_36p -1 reviewed missense c.1581 p.Q527H 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors AKAP10 11216 broad.mit.edu 36 17 19801981 19801982 + Frame_Shift_Ins INS - T - novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 19801981 19801982 - T INS AKAP10 NM_007202 human genbank 54_36p -1 reviewed frame_shift_ins c.815_814 p.T272fs 0.331:0.355 "superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315" "superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315,HMMPfam_RGS" - no_errors MAP2K3 5606 broad.mit.edu 36 17 21144528 21144528 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 21144528 21144528 C T SNP MAP2K3 NM_145109 human genbank 54_36p 1 reviewed missense c.244 p.R82W 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors KSR1 8844 broad.mit.edu 36 17 22959164 22959164 + Splice_Site SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 22959164 22959164 G T SNP KSR1 NM_014238 human genbank 54_36p 1 validated splice_site c.1746+1 e14+1 1 - - - no_errors TMEM97 27346 broad.mit.edu 36 17 23670451 23670451 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 23670451 23670451 G T SNP TMEM97 NM_014573 human genbank 54_36p 1 validated missense c.59 p.S20I 1 NULL NULL - no_errors POLDIP2 26073 broad.mit.edu 36 17 23704860 23704860 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 23704860 23704860 G C SNP POLDIP2 ENST00000003607 human ensembl 54_36p -1 known missense c.423 p.D141E 1 NULL "superfamily_ApaG-like (Pfam 04379),HMMPfam_DUF525" - no_errors VTN 7448 broad.mit.edu 36 17 23720126 23720126 + Silent SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 23720126 23720126 G C SNP VTN NM_000638 human genbank 54_36p -1 reviewed silent c.720 p.P240 0.99 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors ALDOC 230 broad.mit.edu 36 17 23924969 23924969 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 23924969 23924969 G A SNP ALDOC NM_005165 human genbank 54_36p -1 reviewed missense c.910 p.R304C 1 "superfamily_Aldolase,HMMPfam_Glycolytic" "superfamily_Aldolase,HMMPfam_Glycolytic,PatternScan_ALDOLASE_CLASS_I" - no_errors FLJ25006 124923 broad.mit.edu 36 17 23964425 23964425 + Missense_Mutation SNP T T A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 23964425 23964425 T A SNP FLJ25006 NM_144610 human genbank 54_36p -1 provisional missense c.390 p.K130N 0.03 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" - no_errors KIAA0100 9703 broad.mit.edu 36 17 23986322 23986322 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 23986322 23986322 T A SNP KIAA0100 NM_014680 human genbank 54_36p -1 validated missense c.2410 p.N804Y 1 NULL "HMMPfam_Mqo,HMMPfam_Fmp27_GFWDK,HMMPfam_Apt1" - no_errors SUPT6H 6830 broad.mit.edu 36 17 24030025 24030025 + Silent SNP T T G novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24030025 24030025 T G SNP SUPT6H NM_003170 human genbank 54_36p 1 validated silent c.1266 p.A422 1 NULL "HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252" - no_errors NEK8 284086 broad.mit.edu 36 17 24088800 24088837 + Splice_Site DEL GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC - GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 24088800 24088837 GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC - DEL NEK8 NM_178170 human genbank 54_36p 1 reviewed splice_site_del c.828-20_828-1 e6-1 0.000:0.019:0.035:0.038:0.011:0.005:0.000:0.000:0.002:0.001:0.001:0.005:0.004:0.003:0.004:0.000:0.000:0.093:0.975:1.000:1.000:0.997:0.984:0.968:1.000:1.000:1.000:1.000:1.000:0.988:0.831:0.824:0.725:0.725:0.798:0.208:0.146:0.081 - - "(deletion:intron[24088660,24088819], cds_exon[24088820,24088881])" no_errors NEK8 284086 broad.mit.edu 36 17 24089284 24089284 + Silent SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24089284 24089284 A G SNP NEK8 NM_178170 human genbank 54_36p 1 reviewed silent c.1116 p.A372 0.08 superfamily_RCC1/BLIP-II "PatternScan_RCC1_1,PatternScan_RCC1_2,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_RCC1/BLIP-II,HMMPfam_RCC1" - no_errors C17orf63 55731 broad.mit.edu 36 17 24109750 24109750 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 24109750 24109750 G C SNP C17orf63 ENST00000341217 human ensembl 54_36p -1 known missense c.1351 p.P451A 1 NULL NULL - no_errors C17orf63 55731 broad.mit.edu 36 17 24110354 24110354 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24110354 24110354 G T SNP C17orf63 NM_001077498 human genbank 54_36p -1 validated missense c.749 p.P250H 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHRS13 147015 broad.mit.edu 36 17 24249857 24249857 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24249857 24249857 C T SNP DHRS13 NM_144683 human genbank 54_36p -1 validated missense c.862 p.E288K 0 NULL "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" - no_errors SEZ6 124925 broad.mit.edu 36 17 24309175 24309175 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24309175 24309175 G T SNP SEZ6 NM_178860 human genbank 54_36p -1 validated missense c.2218 p.P740T 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042" - no_errors MYO18A 399687 broad.mit.edu 36 17 24461139 24461139 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 24461139 24461139 C G SNP MYO18A NM_078471 human genbank 54_36p -1 validated missense c.3194 p.R1065P 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin" - no_errors MYO18A 399687 broad.mit.edu 36 17 24473350 24473350 + Silent SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24473350 24473350 C T SNP MYO18A NM_078471 human genbank 54_36p -1 validated silent c.1047 p.T349 0.59 NULL "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TAOK1 57551 broad.mit.edu 36 17 24893738 24893738 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24893738 24893738 C T SNP TAOK1 NM_020791 human genbank 54_36p 1 validated missense c.2578 p.R860C 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GIT1 28964 broad.mit.edu 36 17 24928380 24928380 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24928380 24928380 C T SNP GIT1 NM_001085454 human genbank 54_36p -1 validated silent c.1020 p.K340 1 "HMMPfam_GIT_SHD,HMMSmart_GIT" "HMMSmart_ArfGap,superfamily_ArfGAP,HMMPfam_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_GIT_SHD,HMMSmart_GIT" - no_errors ANKRD13B 124930 broad.mit.edu 36 17 24961842 24961842 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 24961842 24961842 C G SNP ANKRD13B NM_152345 human genbank 54_36p 1 validated missense c.836 p.S279C 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_UIM,HMMSmart_SM00726" - no_errors SSH2 85464 broad.mit.edu 36 17 25023173 25023173 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 25023173 25023173 G C SNP SSH2 NM_033389 human genbank 54_36p -1 reviewed missense c.634 p.H212D 1 NULL "HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" - no_errors EFCAB5 374786 broad.mit.edu 36 17 25441694 25441694 + Silent SNP C C A novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 25441694 25441694 C A SNP EFCAB5 NM_198529 human genbank 54_36p 1 validated silent c.3813 p.G1271 0.77 NULL "superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors SLC6A4 6532 broad.mit.edu 36 17 25573043 25573043 + Silent SNP A A G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 25573043 25573043 A G SNP SLC6A4 NM_001045 human genbank 54_36p -1 reviewed silent c.60 p.D20 0.87 NULL "HMMPfam_5HT_transporter,HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors BLMH 642 broad.mit.edu 36 17 25636584 25636584 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 25636584 25636584 C G SNP BLMH NM_000386 human genbank 54_36p -1 reviewed missense c.593 p.S198T 1 "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C1_2" "superfamily_Cysteine proteinases,HMMPfam_Peptidase_C1_2,PatternScan_THIOL_PROTEASE_CYS" - no_errors GOSR1 9527 broad.mit.edu 36 17 25871136 25871136 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 25871136 25871136 C T SNP GOSR1 NM_004871 human genbank 54_36p 1 reviewed missense c.599 p.S200L 1 HMMPfam_V-SNARE HMMPfam_V-SNARE - no_errors C17orf42 79736 broad.mit.edu 36 17 26250693 26250693 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 26250693 26250693 C A SNP C17orf42 NM_024683 human genbank 54_36p -1 validated nonsense c.703 p.G235* 0.13 superfamily_Ribonuclease H-like superfamily_Ribonuclease H-like - no_errors ADAP2 55803 broad.mit.edu 36 17 26277992 26277992 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 26277992 26277992 C T SNP ADAP2 NM_018404 human genbank 54_36p 1 validated missense c.247 p.L83F 0.14 "superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105" "superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors OMG 4974 broad.mit.edu 36 17 26646718 26646718 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 26646718 26646718 G A SNP OMG NM_002544 human genbank 54_36p -1 validated missense c.758 p.P253L 1 superfamily_SSF52058 "HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors EVI2B 2124 broad.mit.edu 36 17 26656305 26656305 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 26656305 26656305 G A SNP EVI2B NM_006495 human genbank 54_36p -1 validated missense c.449 p.S150L 0.06 NULL NULL - no_errors EVI2A 2123 broad.mit.edu 36 17 26670112 26670112 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 26670112 26670112 A G SNP EVI2A NM_001003927 human genbank 54_36p -1 validated missense c.115 p.F39L 0.11 HMMPfam_EVI2A HMMPfam_EVI2A - no_errors UTP6 55813 broad.mit.edu 36 17 27226508 27226508 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 27226508 27226508 G C SNP UTP6 NM_018428 human genbank 54_36p -1 validated missense c.1163 p.A388G 0.37 superfamily_SSF48452 "HMMPfam_U3_assoc_6,HMMSmart_HAT,superfamily_SSF48452" - no_errors RHOT1 55288 broad.mit.edu 36 17 27553952 27553952 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 27553952 27553952 G C SNP RHOT1 NM_001033568 human genbank 54_36p 1 validated missense c.1252 p.V418L 1 superfamily_SSF52540 "superfamily_SSF52540,HMMPfam_Miro,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_EF_assoc_2,HMMPfam_EF_assoc_1" - no_errors RHBDL3 162494 broad.mit.edu 36 17 27656501 27656501 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 27656501 27656501 G A SNP RHBDL3 NM_138328 human genbank 54_36p 1 validated missense c.810 p.M270I 1 HMMPfam_Rhomboid "superfamily_SSF47473,HMMPfam_Rhomboid" - no_errors PSMD11 5717 broad.mit.edu 36 17 27815669 27815669 + Silent SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 27815669 27815669 G A SNP PSMD11 NM_002815 human genbank 54_36p 1 reviewed silent c.408 p.L136 1 superfamily_TPR-like "superfamily_TPR-like,HMMSmart_SM00753,HMMPfam_PCI,superfamily_Winged helix DNA-binding domain,HMMSmart_SM00088" - no_errors ACCN1 40 broad.mit.edu 36 17 28377105 28377105 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 28377105 28377105 G T SNP ACCN1 NM_183377 human genbank 54_36p -1 reviewed missense c.1147 p.P383T 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors ACCN1 40 broad.mit.edu 36 17 29507517 29507517 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 29507517 29507517 C T SNP ACCN1 NM_001094 human genbank 54_36p -1 reviewed missense c.148 p.V50M 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - overly_large_intron C17orf102 400591 broad.mit.edu 36 17 29928688 29928688 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 29928688 29928688 C T SNP C17orf102 NM_207454 human genbank 54_36p -1 validated missense c.475 p.A159T 0.01 NULL NULL - no_errors LIG3 3980 broad.mit.edu 36 17 30337216 30337216 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30337216 30337216 C T SNP LIG3 NM_013975 human genbank 54_36p 1 reviewed missense c.644 p.A215V 0.03 NULL ############################################################################################################################################################################################################################################################### - no_errors LIG3 3980 broad.mit.edu 36 17 30350453 30350453 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 17 30350453 30350453 A G SNP LIG3 NM_013975 human genbank 54_36p 1 reviewed missense c.2128 p.I710V 1 HMMPfam_DNA_ligase_A_C ############################################################################################################################################################################################################################################################### - no_errors FNDC8 54752 broad.mit.edu 36 17 30473028 30473028 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30473028 30473028 A T SNP FNDC8 NM_017559 human genbank 54_36p 1 validated missense c.203 p.N68I 0 NULL "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors NLE1 54475 broad.mit.edu 36 17 30484579 30484579 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30484579 30484579 C A SNP NLE1 NM_018096 human genbank 54_36p -1 validated missense c.1266 p.W422C 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMPfam_NLE,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors UNC45B 146862 broad.mit.edu 36 17 30499563 30499563 + Silent SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30499563 30499563 G A SNP UNC45B NM_173167 human genbank 54_36p 1 validated silent c.168 p.T56 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_ARM repeat,HMMSmart_SM00185" - no_errors UNC45B 146862 broad.mit.edu 36 17 30506569 30506569 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30506569 30506569 C A SNP UNC45B NM_173167 human genbank 54_36p 1 validated silent c.781 p.R261 0.94 superfamily_ARM repeat "HMMSmart_SM00185,HMMPfam_TPR_1,superfamily_ARM repeat,HMMSmart_SM00028,superfamily_TPR-like" - no_errors UNC45B 146862 broad.mit.edu 36 17 30537436 30537436 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30537436 30537436 C A SNP UNC45B NM_173167 human genbank 54_36p 1 validated silent c.2541 p.T847 0.05 superfamily_ARM repeat "HMMSmart_SM00185,HMMPfam_TPR_1,superfamily_ARM repeat,HMMSmart_SM00028,superfamily_TPR-like" - no_errors SLFN13 146857 broad.mit.edu 36 17 30795017 30795017 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 30795017 30795017 G A SNP SLFN13 NM_144682 human genbank 54_36p -1 validated nonsense c.1102 p.Q368* 1 NULL "HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AP2B1 163 broad.mit.edu 36 17 30993078 30993078 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 30993078 30993078 G A SNP AP2B1 NM_001030006 human genbank 54_36p 1 reviewed missense c.1507 p.V503I 1 "superfamily_ARM repeat,HMMPfam_Adaptin_N" "superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C" - no_errors AP2B1 163 broad.mit.edu 36 17 31001675 31001675 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 31001675 31001675 C G SNP AP2B1 NM_001030006 human genbank 54_36p 1 reviewed missense c.1550 p.P517R 1 "HMMPfam_Adaptin_N,superfamily_ARM repeat" "HMMSmart_SM00185,HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Subdomain of clathrin and coatomer appendage domain,superfamily_Clathrin adaptor appendage domain,HMMPfam_B2-adapt-app_C,superfamily_ARM repeat" - no_errors AP2B1 163 broad.mit.edu 36 17 31068453 31068453 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 31068453 31068453 G C SNP AP2B1 NM_001030006 human genbank 54_36p 1 reviewed missense c.2753 p.R918P 0.98 "superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C" "HMMSmart_SM00185,HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Subdomain of clathrin and coatomer appendage domain,superfamily_Clathrin adaptor appendage domain,HMMPfam_B2-adapt-app_C,superfamily_ARM repeat" - no_errors RASL10B 91608 broad.mit.edu 36 17 31092347 31092348 + Missense_Mutation DNP CA CA GC novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 31092347 31092348 CA GC DNP RASL10B NM_033315 human genbank 54_36p 1 validated missense c.522_523 p.K175Q 1.000:1.000 superfamily_SSF52540 "superfamily_SSF52540,HMMPfam_Miro" - no_errors GAS2L2 246176 broad.mit.edu 36 17 31100273 31100273 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 31100273 31100273 A T SNP GAS2L2 NM_139285 human genbank 54_36p -1 validated missense c.704 p.V235E 1 "HMMPfam_GAS2,HMMSmart_SM00243" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243" - no_errors GAS2L2 246176 broad.mit.edu 36 17 31101239 31101239 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 31101239 31101239 C G SNP GAS2L2 NM_139285 human genbank 54_36p -1 validated missense c.597 p.Q199H 0.43 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243,superfamily_Calponin-homology domain CH-domain" - no_errors TAF15 8148 broad.mit.edu 36 17 31189590 31189590 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 31189590 31189590 A T SNP TAF15 NM_139215 human genbank 54_36p 1 reviewed missense c.833 p.D278V 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors RDM1 201299 broad.mit.edu 36 17 31275861 31275861 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 31275861 31275861 C A SNP RDM1 NM_145654 human genbank 54_36p -1 reviewed missense c.428 p.R143M 0.18 superfamily_dsRNA-binding domain-like superfamily_dsRNA-binding domain-like - no_errors MYO19 80179 broad.mit.edu 36 17 31933900 31933901 + Splice_Site DNP CA CA GT novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 31933900 31933901 CA GT DNP MYO19 NM_025109 human genbank 54_36p -1 validated splice_site c.1376+2_1376+1 e14+2 0.998:1.000 - - - no_errors MYO19 80179 broad.mit.edu 36 17 31933903 31933903 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 31933903 31933903 C A SNP MYO19 NM_025109 human genbank 54_36p -1 validated missense c.1376 p.R459L 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ" - no_errors GGNBP2 79893 broad.mit.edu 36 17 31987262 31987262 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 31987262 31987262 A T SNP GGNBP2 NM_024835 human genbank 54_36p 1 validated missense c.401 p.K134M 1 NULL NULL - no_errors GGNBP2 79893 broad.mit.edu 36 17 32017611 32017611 + Silent SNP G G T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 32017611 32017611 G T SNP GGNBP2 NM_024835 human genbank 54_36p 1 validated silent c.1713 p.V571 1 NULL NULL - no_errors GGNBP2 79893 broad.mit.edu 36 17 32017633 32017633 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 32017633 32017633 G C SNP GGNBP2 NM_024835 human genbank 54_36p 1 validated missense c.1735 p.D579H 1 NULL NULL - no_errors AATF 26574 broad.mit.edu 36 17 32384555 32384555 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 32384555 32384555 G C SNP AATF NM_012138 human genbank 54_36p 1 reviewed missense c.540 p.M180I 0.91 NULL HMMPfam_TRAUB - no_errors AATF 26574 broad.mit.edu 36 17 32488042 32488042 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 32488042 32488042 C G SNP AATF NM_012138 human genbank 54_36p 1 reviewed missense c.1648 p.Q550E 0.61 NULL HMMPfam_TRAUB - no_errors SYNRG 11276 broad.mit.edu 36 17 32987861 32987861 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 32987861 32987861 C T SNP AP1GBP1 NM_007247 human genbank 54_36p -1 reviewed missense c.2077 p.D693N 1 NULL "HMMSmart_SM00027,superfamily_EF-hand" - no_errors HNF1B 6928 broad.mit.edu 36 17 33144652 33144662 + Frame_Shift_Del DEL TGGCCTGGGTC - - novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D TGGCCTGGGTC TGGCCTGGGTC - - TGGCCTGGGTC TGGCCTGGGTC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 33144652 33144662 TGGCCTGGGTC - DEL HNF1B NM_000458 human genbank 54_36p -1 validated frame_shift_del c.1178_1168 p.D390fs 1.000:1.000:1.000:1.000:0.998:0.994:1.000:1.000:1.000:1.000:1.000 HMMPfam_HNF-1B_C "superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C" "(deletion:cds_exon[33144624,33144784])" no_errors GPR179 440435 broad.mit.edu 36 17 33737073 33737098 + Frame_Shift_Del DEL CGGAATCTGCTGGGGCAGTGGTCTCC - - novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 CGGAATCTGCTGGGGCAGTGGTCTCC CGGAATCTGCTGGGGCAGTGGTCTCC - - CGGAATCTGCTGGGGCAGTGGTCTCC CGGAATCTGCTGGGGCAGTGGTCTCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 33737073 33737098 CGGAATCTGCTGGGGCAGTGGTCTCC - DEL GPR179 NM_001004334 human genbank 54_36p -1 validated frame_shift_del c.5905_5880 p.W1960fs 0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.016:0.025:0.307:0.334:0.305 NULL "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMSmart_EGF,HMMPfam_7tm_3" "(deletion:cds_exon[33735874,33740940])" no_errors GPR179 440435 broad.mit.edu 36 17 33746454 33746454 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 33746454 33746454 C G SNP GPR179 NM_001004334 human genbank 54_36p -1 validated missense c.1160 p.C387S 1 HMMPfam_7tm_3 "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMSmart_EGF,HMMPfam_7tm_3" - no_errors GPR179 440435 broad.mit.edu 36 17 33748892 33748892 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 33748892 33748892 G C SNP GPR179 NM_001004334 human genbank 54_36p -1 validated missense c.837 p.I279M 1 NULL "HMMSmart_EGF,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors FBXL20 84961 broad.mit.edu 36 17 34674045 34674045 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 34674045 34674045 G T SNP FBXL20 NM_032875 human genbank 54_36p -1 provisional missense c.1112 p.S371Y 1 "superfamily_RNI-like,HMMSmart_SM00367" "HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00256,HMMSmart_SM00367" - no_errors MED1 5469 broad.mit.edu 36 17 34819137 34819137 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 34819137 34819137 C T SNP MED1 NM_004774 human genbank 54_36p -1 reviewed missense c.2863 p.G955S 1 NULL "HMMPfam_Med1-Trap220,PatternScan_PHOSPHOPANTETHEINE,PatternScan_GHMP_KINASES_ATP" - no_errors IKZF3 22806 broad.mit.edu 36 17 35175608 35175608 + Silent SNP A A G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 35175608 35175608 A G SNP IKZF3 NM_012481 human genbank 54_36p -1 reviewed silent c.1491 p.S497 0.99 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors IKZF3 22806 broad.mit.edu 36 17 35175946 35175946 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 35175946 35175946 C G SNP IKZF3 NM_012481 human genbank 54_36p -1 reviewed missense c.1153 p.D385H 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZPBP2 124626 broad.mit.edu 36 17 35282836 35282836 + Silent SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 35282836 35282836 G A SNP ZPBP2 NM_199321 human genbank 54_36p 1 validated silent c.639 p.A213 0.99 HMMPfam_Sp38 HMMPfam_Sp38 - no_errors CASC3 22794 broad.mit.edu 36 17 35573442 35573442 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 35573442 35573442 G C SNP CASC3 NM_007359 human genbank 54_36p 1 reviewed missense c.968 p.R323P 0.97 NULL HMMPfam_Btz - no_errors RAPGEFL1 51195 broad.mit.edu 36 17 35602762 35602762 + Silent SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 35602762 35602762 G A SNP RAPGEFL1 NM_016339 human genbank 54_36p 1 validated silent c.1185 p.E395 1 "superfamily_Ras_GEF,HMMSmart_RasGEF,HMMPfam_RasGEF" "superfamily_Ras_GEF,HMMPfam_RA,HMMSmart_RasGEF,HMMPfam_RasGEF" - no_errors WIPF2 147179 broad.mit.edu 36 17 35670312 35670312 + Splice_Site SNP G G A novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 35670312 35670312 G A SNP WIPF2 NM_133264 human genbank 54_36p 1 validated splice_site c.64-1 e2-1 1 - - - no_errors TNS4 84951 broad.mit.edu 36 17 35889572 35889572 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 35889572 35889572 C T SNP TNS4 NM_032865 human genbank 54_36p -1 validated missense c.1790 p.G597E 1 "superfamily_SSF50729,HMMPfam_PTB" "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMPfam_PTB" - no_errors KRT24 192666 broad.mit.edu 36 17 36111046 36111046 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 36111046 36111046 T C SNP KRT24 NM_019016 human genbank 54_36p -1 validated missense c.727 p.S243G 0.99 HMMPfam_Filament "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT25 147183 broad.mit.edu 36 17 36160222 36160222 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36160222 36160222 C T SNP KRT25 NM_181534 human genbank 54_36p -1 provisional missense c.1111 p.D371N 1 HMMPfam_Filament "PatternScan_IF,HMMPfam_Filament" - no_errors KRT28 162605 broad.mit.edu 36 17 36203673 36203673 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36203673 36203673 A G SNP KRT28 NM_181535 human genbank 54_36p -1 validated missense c.1130 p.L377P 1 HMMPfam_Filament HMMPfam_Filament - no_errors KRT12 3859 broad.mit.edu 36 17 36273065 36273065 + Silent SNP C C G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 36273065 36273065 C G SNP KRT12 NM_000223 human genbank 54_36p -1 reviewed silent c.1152 p.L384 0.02 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT12 3859 broad.mit.edu 36 17 36276897 36276897 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36276897 36276897 G C SNP KRT12 NM_000223 human genbank 54_36p -1 reviewed missense c.68 p.S23W 0.89 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRTAP9-3 83900 broad.mit.edu 36 17 36642507 36642507 + Silent SNP T T C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36642507 36642507 T C SNP KRTAP9-3 NM_031962 human genbank 54_36p 1 reviewed silent c.228 p.C76 0.01 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors KRTAP9-8 83901 broad.mit.edu 36 17 36648176 36648176 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36648176 36648176 G C SNP KRTAP9-8 NM_031963 human genbank 54_36p 1 reviewed missense c.347 p.C116S 0.01 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors KRT33A 3883 broad.mit.edu 36 17 36756723 36756724 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 36756723 36756724 CC AG DNP KRT33A NM_004138 human genbank 54_36p -1 reviewed missense c.775_774 p.V259L 1.000:1.000 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT31 3881 broad.mit.edu 36 17 36807218 36807218 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 36807218 36807218 C G SNP KRT31 NM_002277 human genbank 54_36p -1 reviewed missense c.100 p.A34P 1 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT32 3882 broad.mit.edu 36 17 36869938 36869938 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 36869938 36869938 G T SNP KRT32 NM_002278 human genbank 54_36p -1 reviewed missense c.1297 p.P433T 0.74 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT35 3886 broad.mit.edu 36 17 36886883 36886883 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36886883 36886883 T G SNP KRT35 NM_002280 human genbank 54_36p -1 reviewed missense c.1319 p.N440T 0.19 NULL "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT13 3860 broad.mit.edu 36 17 36911044 36911044 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36911044 36911044 C T SNP KRT13 NM_153490 human genbank 54_36p -1 reviewed missense c.1367 p.R456H 0.04 NULL "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT13 3860 broad.mit.edu 36 17 36912364 36912364 + Silent SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 36912364 36912364 C G SNP KRT13 NM_153490 human genbank 54_36p -1 reviewed silent c.1032 p.G344 0.03 HMMPfam_Filament "superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF" - no_errors KRT17 3872 broad.mit.edu 36 17 37033993 37033993 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37033993 37033993 G A SNP KRT17 NM_000422 human genbank 54_36p -1 reviewed silent c.295 p.L99 1 HMMPfam_Filament "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors HAP1 9001 broad.mit.edu 36 17 37137979 37137979 + Missense_Mutation SNP C C G novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 37137979 37137979 C G SNP HAP1 NM_177977 human genbank 54_36p -1 reviewed missense c.1200 p.M400I 0.81 HMMPfam_HAP1_N HMMPfam_HAP1_N - no_errors JUP 3728 broad.mit.edu 36 17 37172789 37172789 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 37172789 37172789 T C SNP JUP NM_002230 human genbank 54_36p -1 reviewed missense c.1469 p.N490S 1 "superfamily_ARM-type_fold,HMMSmart_ARM" "superfamily_ARM-type_fold,HMMSmart_ARM,HMMPfam_HEAT,HMMPfam_Arm" - no_errors FKBP10 60681 broad.mit.edu 36 17 37230150 37230150 + Silent SNP T T G novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37230150 37230150 T G SNP FKBP10 NM_021939 human genbank 54_36p 1 validated silent c.1167 p.S389 0 superfamily_SSF54534 "superfamily_SSF54534,HMMPfam_FKBP_C,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,PatternScan_ER_TARGET" - no_errors KLHL11 55175 broad.mit.edu 36 17 37263588 37263588 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 37263588 37263588 C T SNP KLHL11 NM_018143 human genbank 54_36p -1 provisional missense c.2057 p.R686K 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors ACLY 47 broad.mit.edu 36 17 37278556 37278556 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37278556 37278556 G C SNP ACLY NM_001096 human genbank 54_36p -1 reviewed missense c.3143 p.A1048G 1 superfamily_Citrate_synthase_core "superfamily_SSF56059,superfamily_CoA_ligase,PatternScan_SUCCINYL_COA_LIG_3,superfamily_NAD(P)-bd,HMMPfam_CoA_binding,superfamily_Citrate_synthase_core,HMMPfam_Ligase_CoA,PatternScan_SUCCINYL_COA_LIG_1,PatternScan_SUCCINYL_COA_LIG_2" - no_errors ACLY 47 broad.mit.edu 36 17 37323652 37323652 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 37323652 37323652 T A SNP ACLY NM_001096 human genbank 54_36p -1 reviewed missense c.1 p.M1L 1 NULL "HMMPfam_CoA_binding,PatternScan_SUCCINYL_COA_LIG_1,HMMPfam_Ligase_CoA,superfamily_NAD(P)-bd,superfamily_CoA_ligase,superfamily_Citrate_synthase_core,PatternScan_SUCCINYL_COA_LIG_2,PatternScan_SUCCINYL_COA_LIG_3,superfamily_SSF56059" - no_errors DNAJC7 7266 broad.mit.edu 36 17 37395049 37395049 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37395049 37395049 G C SNP DNAJC7 NM_003315 human genbank 54_36p -1 provisional missense c.622 p.L208V 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ" - no_errors KAT2A 2648 broad.mit.edu 36 17 37519630 37519652 + Splice_Site DEL TGGAGAGAAGAGCCGGGCTGGGG - TGGAGAGAAGAGCCGGGCTGGGG novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W TGGAGAGAAGAGCCGGGCTGGGG TGGAGAGAAGAGCCGGGCTGGGG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 37519630 37519652 TGGAGAGAAGAGCCGGGCTGGGG - DEL KAT2A NM_021078 human genbank 54_36p -1 validated splice_site_del c.2236-24_2236-2 e17-2 1.000:0.527:0.449:0.436:0.442:0.410:0.386:0.011:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.003:0.000:0.000:0.000:0.001:0.001:0.003 - - "(deletion:intron[37519629,37519762])" no_errors STAT5B 6777 broad.mit.edu 36 17 37613252 37613252 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37613252 37613252 G C SNP STAT5B NM_012448 human genbank 54_36p -1 reviewed missense c.1927 p.L643V 1 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "superfamily_STAT,HMMPfam_STAT_int,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_P53_like_DNA_bnd,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" - no_errors STAT5B 6777 broad.mit.edu 36 17 37615794 37615794 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 17 37615794 37615794 G C SNP STAT5B NM_012448 human genbank 54_36p -1 reviewed missense c.1827 p.N609K 1 "HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550" "HMMPfam_SH2,HMMSmart_SH2,superfamily_P53_like_DNA_bnd,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_SSF55550" - no_errors STAT5B 6777 broad.mit.edu 36 17 37633087 37633087 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 37633087 37633087 C A SNP STAT5B NM_012448 human genbank 54_36p -1 reviewed missense c.271 p.A91S 1 "HMMPfam_STAT_int,superfamily_STAT" "HMMPfam_SH2,HMMSmart_SH2,superfamily_P53_like_DNA_bnd,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_SSF55550" - no_errors STAT5A 6776 broad.mit.edu 36 17 37713789 37713789 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 37713789 37713789 C G SNP STAT5A NM_003152 human genbank 54_36p 1 reviewed missense c.1974 p.D658E 1 "HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550" "HMMPfam_SH2,HMMSmart_SH2,superfamily_P53_like_DNA_bnd,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_SSF55550" - no_errors STAT3 6774 broad.mit.edu 36 17 37752228 37752228 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37752228 37752228 G C SNP STAT3 NM_139276 human genbank 54_36p -1 reviewed missense c.158 p.A53G 1 "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int" "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2" - no_errors PTRF 284119 broad.mit.edu 36 17 37828412 37828412 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 37828412 37828412 T A SNP PTRF NM_012232 human genbank 54_36p -1 validated missense c.230 p.E77V 1 NULL NULL - no_errors NAGLU 4669 broad.mit.edu 36 17 37949014 37949014 + Silent SNP G G A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 37949014 37949014 G A SNP NAGLU NM_000263 human genbank 54_36p 1 reviewed silent c.1464 p.P488 0 HMMPfam_NAGLU HMMPfam_NAGLU - no_errors FAM134C 162427 broad.mit.edu 36 17 37990759 37990759 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 37990759 37990759 C T SNP FAM134C NM_178126 human genbank 54_36p -1 validated missense c.637 p.D213N 1 NULL NULL - no_errors TUBG2 27175 broad.mit.edu 36 17 38071305 38071305 + Silent SNP G G C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38071305 38071305 G C SNP TUBG2 NM_016437 human genbank 54_36p 1 validated silent c.777 p.S259 0.63 "superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" "superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" - no_errors PLEKHH3 79990 broad.mit.edu 36 17 38079926 38079926 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38079926 38079926 G C SNP PLEKHH3 NM_024927 human genbank 54_36p -1 validated missense c.190 p.P64A 0.06 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_GLYCOSYL_HYDROL_F11_2" - no_errors CCR10 2826 broad.mit.edu 36 17 38086132 38086132 + Silent SNP T T C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 38086132 38086132 T C SNP CCR10 NM_016602 human genbank 54_36p -1 validated silent c.54 p.E18 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CNTNAP1 8506 broad.mit.edu 36 17 38093414 38093414 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 38093414 38093414 C G SNP CNTNAP1 NM_003632 human genbank 54_36p 1 reviewed missense c.1195 p.L399V 0.93 "superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP1 8506 broad.mit.edu 36 17 38094471 38094471 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 38094471 38094471 T C SNP CNTNAP1 NM_003632 human genbank 54_36p 1 reviewed missense c.1508 p.F503S 1 "HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors CNTNAP1 8506 broad.mit.edu 36 17 38096348 38096378 + Frame_Shift_Del DEL ATGGAGCGGCCATTCCTGGGGGCTATCCAGT - ATGGAGCGGCCATTCCTGGGGGCTATCCAGT novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 ATGGAGCGGCCATTCCTGGGGGCTATCCAGT ATGGAGCGGCCATTCCTGGGGGCTATCCAGT - - ATGGAGCGGCCATTCCTGGGGGCTATCCAGT ATGGAGCGGCCATTCCTGGGGGCTATCCAGT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 38096348 38096378 ATGGAGCGGCCATTCCTGGGGGCTATCCAGT - DEL CNTNAP1 NM_003632 human genbank 54_36p 1 reviewed frame_shift_del c.1921_1951 p.M641fs 0.998:1.000:1.000:1.000:1.000:0.908:0.998:1.000:1.000:1.000:1.000:0.970:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.841:0.814:0.760:0.322:0.393:0.992:0.998:1.000:1.000:1.000:1.000 "superfamily_ConA_like_lec_gl,HMMSmart_FBG" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[38096283,38096486])" no_errors EZH1 2145 broad.mit.edu 36 17 38123578 38123578 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38123578 38123578 T C SNP EZH1 NM_001991 human genbank 54_36p -1 validated missense c.965 p.K322R 1 NULL "HMMSmart_SM00717,PatternScan_AP_NUCLEASE_F2_1,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317" - no_errors EZH1 2145 broad.mit.edu 36 17 38125994 38125995 + Splice_Site DNP CT CT AC novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 38125994 38125995 CT AC DNP EZH1 NM_001991 human genbank 54_36p -1 validated splice_site c.488-2_488-1 e5-1 1.000:1.000 - - - no_errors WNK4 65266 broad.mit.edu 36 17 38201262 38201262 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 38201262 38201262 C G SNP WNK4 NM_032387 human genbank 54_36p 1 validated missense c.3116 p.S1039C 0.02 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors WNK4 65266 broad.mit.edu 36 17 38202086 38202086 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 38202086 38202086 C G SNP WNK4 NM_032387 human genbank 54_36p 1 validated missense c.3693 p.S1231R 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" - no_errors CNTD1 124817 broad.mit.edu 36 17 38204617 38204617 + Silent SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 38204617 38204617 C T SNP CNTD1 NM_173478 human genbank 54_36p 1 validated silent c.6 p.D2 0.05 NULL superfamily_Cyclin-like - no_errors IFI35 3430 broad.mit.edu 36 17 38419154 38419154 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38419154 38419154 G T SNP IFI35 NM_005533 human genbank 54_36p 1 validated missense c.517 p.V173F 0.02 NULL "HMMPfam_IFP_35_N,HMMPfam_NID" - no_errors ARL4D 379 broad.mit.edu 36 17 38832676 38832676 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38832676 38832676 C G SNP ARL4D NM_001661 human genbank 54_36p 1 reviewed missense c.50 p.P17R 1 "HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf" "HMMSmart_SM00177,HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" - no_errors DHX8 1659 broad.mit.edu 36 17 38925628 38925628 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38925628 38925628 G A SNP DHX8 NM_004941 human genbank 54_36p 1 reviewed missense c.557 p.R186Q 1 NULL "superfamily_Nucleic_acid_OB,HMMPfam_S1,HMMSmart_S1,HMMSmart_DEXDc,superfamily_SSF52540,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605" - no_errors ETV4 2118 broad.mit.edu 36 17 38962065 38962065 + Silent SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 38962065 38962065 C G SNP ETV4 NM_001079675 human genbank 54_36p -1 validated silent c.1194 p.S398 0.76 "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2" "HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors MPP3 4356 broad.mit.edu 36 17 39264780 39264780 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39264780 39264780 G C SNP MPP3 NM_001932 human genbank 54_36p -1 reviewed missense c.21 p.D7E 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors MPP2 4355 broad.mit.edu 36 17 39312259 39312259 + Nonsense_Mutation SNP G G C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39312259 39312259 G C SNP MPP2 NM_005374 human genbank 54_36p -1 reviewed nonsense c.1392 p.Y464* 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,HMMPfam_Guanylate_kin" ############################################################################################################################################################################################################################################################### - no_errors PYY 5697 broad.mit.edu 36 17 39386006 39386007 + Missense_Mutation DNP GA GA TG novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39386006 39386007 GA TG DNP PYY NM_004160 human genbank 54_36p -1 validated missense c.266_265 p.S89Q 0.023:0.031 NULL "HMMPfam_Hormone_3,HMMSmart_SM00309,PatternScan_PANCREATIC_HORMONE_1" - no_errors G6PC3 92579 broad.mit.edu 36 17 39508217 39508217 + Silent SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39508217 39508217 C T SNP G6PC3 NM_138387 human genbank 54_36p 1 validated silent c.549 p.G183 1 "superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2" "superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2" - no_errors G6PC3 92579 broad.mit.edu 36 17 39508223 39508223 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39508223 39508223 G A SNP G6PC3 NM_138387 human genbank 54_36p 1 validated silent c.555 p.L185 0.99 "HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase" "HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase" - no_errors HDAC5 10014 broad.mit.edu 36 17 39520443 39520443 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 39520443 39520443 G C SNP HDAC5 NM_001015053 human genbank 54_36p -1 reviewed missense c.1750 p.Q584E 1 NULL "superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl" - no_errors ATXN7L3 56970 broad.mit.edu 36 17 39627420 39627420 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39627420 39627420 A C SNP ATXN7L3 NM_020218 human genbank 54_36p -1 validated missense c.907 p.W303G 0.82 NULL "HMMPfam_Sgf11,HMMPfam_SCA7" - no_errors UBTF 7343 broad.mit.edu 36 17 39643263 39643263 + Silent SNP A A G novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39643263 39643263 A G SNP UBTF NM_014233 human genbank 54_36p -1 validated silent c.1464 p.A488 0.19 "superfamily_HMG-box,HMMSmart_SM00398" "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors RUNDC3A 10900 broad.mit.edu 36 17 39746378 39746378 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39746378 39746378 C T SNP RUNDC3A NM_006695 human genbank 54_36p 1 validated missense c.439 p.R147C 1 "HMMPfam_RUN,HMMSmart_RUN" "HMMPfam_RUN,HMMSmart_RUN" - no_errors FZD2 2535 broad.mit.edu 36 17 39991386 39991386 + Silent SNP A A G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 39991386 39991386 A G SNP FZD2 NM_001466 human genbank 54_36p 1 reviewed silent c.804 p.V268 1 HMMPfam_Frizzled "HMMPfam_Fz,superfamily_Frizzled_Cys-rich,HMMSmart_FRI,HMMPfam_Frizzled" - no_errors FZD2 2535 broad.mit.edu 36 17 39992097 39992097 + Silent SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 39992097 39992097 G C SNP FZD2 NM_001466 human genbank 54_36p 1 reviewed silent c.1515 p.P505 0.99 HMMPfam_Frizzled "superfamily_Frizzled_Cys-rich,HMMPfam_Frizzled,HMMPfam_Fz,HMMSmart_FRI" - no_errors C17orf104 284071 broad.mit.edu 36 17 40100926 40100926 + Silent SNP T T C novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 40100926 40100926 T C SNP uc002igz.2 ENST00000409122 human ensembl 54_36p 1 known silent c.2121 p.Y707 1 NULL PatternScan_PHOSPHOPANTETHEINE - no_errors C17orf104 284071 broad.mit.edu 36 17 40100965 40100965 + Silent SNP T T C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 40100965 40100965 T C SNP uc002igz.2 ENST00000409122 human ensembl 54_36p 1 known silent c.2160 p.P720 1 NULL PatternScan_PHOSPHOPANTETHEINE - no_errors EFTUD2 9343 broad.mit.edu 36 17 40292851 40292851 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 40292851 40292851 A T SNP EFTUD2 NM_004247 human genbank 54_36p -1 validated missense c.1808 p.M603K 1 superfamily_EFG_III_V "PatternScan_EFACTOR_GTP,superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C" - no_errors KIF18B 146909 broad.mit.edu 36 17 40365571 40365571 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 40365571 40365571 C T SNP KIF18B NM_001080443 human genbank 54_36p -1 provisional missense c.1234 p.E412K 0 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HEXIM1 10614 broad.mit.edu 36 17 40582389 40582389 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 40582389 40582389 A T SNP HEXIM1 NM_006460 human genbank 54_36p 1 reviewed missense c.49 p.N17Y 1 NULL NULL - no_errors C17orf46 124783 broad.mit.edu 36 17 40689046 40689046 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 40689046 40689046 C G SNP C17orf46 NM_152343 human genbank 54_36p -1 validated missense c.286 p.E96Q 0 NULL NULL - no_errors MAP3K14 9020 broad.mit.edu 36 17 40704246 40704248 + Missense_Mutation TNP GGT GGT TTG novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D GGT GGT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 40704246 40704248 GGT TTG TNP MAP3K14 ENST00000344686 human ensembl 54_36p -1 known missense c.1778_1780 p.HP593PT 1.000:1.000:1.000 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MAPT 4137 broad.mit.edu 36 17 41457217 41457217 + Silent SNP C C T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 17 41457217 41457217 C T SNP MAPT NM_016835 human genbank 54_36p 1 reviewed silent c.2112 p.D704 1 NULL "HMMPfam_Tubulin-binding,PatternScan_TAU_MAP" - no_errors NSF 4905 broad.mit.edu 36 17 42184080 42184080 + Silent SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 42184080 42184080 G A SNP NSF NM_006178 human genbank 54_36p 1 validated silent c.2088 p.Q696 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_ADC-like,HMMPfam_CDC48_N,superfamily_Cdc48 domain 2-like,HMMPfam_CDC48_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors GOSR2 9570 broad.mit.edu 36 17 42367462 42367462 + Silent SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 42367462 42367462 C T SNP GOSR2 NM_054022 human genbank 54_36p 1 reviewed silent c.405 p.N135 1 HMMPfam_V-SNARE HMMPfam_V-SNARE - no_errors MYL4 4635 broad.mit.edu 36 17 42652308 42652308 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 42652308 42652308 C A SNP MYL4 NM_001002841 human genbank 54_36p 1 reviewed missense c.203 p.T68N 0.1 superfamily_SSF47473 superfamily_SSF47473 - no_errors MYL4 4635 broad.mit.edu 36 17 42654065 42654065 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 42654065 42654065 T C SNP MYL4 NM_001002841 human genbank 54_36p 1 reviewed missense c.332 p.L111P 1 superfamily_SSF47473 superfamily_SSF47473 - no_errors MYL4 4635 broad.mit.edu 36 17 42654107 42654107 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 42654107 42654107 G A SNP MYL4 NM_001002841 human genbank 54_36p 1 reviewed missense c.374 p.R125H 1 superfamily_SSF47473 superfamily_SSF47473 - no_errors ITGB3 3690 broad.mit.edu 36 17 42724773 42724773 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 17 42724773 42724773 C T SNP ITGB3 NM_000212 human genbank 54_36p 1 reviewed silent c.1530 p.D510 0.8 superfamily_EGF/Laminin ############################################################################################################################################################################################################################################################### - no_errors MRPL10 124995 broad.mit.edu 36 17 43259416 43259416 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 43259416 43259416 A G SNP MRPL10 NM_145255 human genbank 54_36p -1 reviewed missense c.376 p.F126L 1 NULL NULL - no_errors HOXB4 3214 broad.mit.edu 36 17 44010278 44010278 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 44010278 44010278 C T SNP HOXB4 NM_024015 human genbank 54_36p -1 reviewed missense c.403 p.A135T 0.99 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZNF652 22834 broad.mit.edu 36 17 44749439 44749439 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 44749439 44749439 A T SNP ZNF652 NM_014897 human genbank 54_36p -1 validated missense c.648 p.S216R 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NGFR 4804 broad.mit.edu 36 17 44945149 44945149 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 44945149 44945149 G T SNP NGFR NM_002507 human genbank 54_36p 1 reviewed missense c.1063 p.A355S 0.32 "superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" "PatternScan_LIPASE_SER,superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death" - no_errors FAM117A 81558 broad.mit.edu 36 17 45149912 45149912 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45149912 45149912 C A SNP FAM117A NM_030802 human genbank 54_36p -1 validated missense c.872 p.G291V 0 NULL NULL - no_errors ITGA3 3675 broad.mit.edu 36 17 45504480 45504480 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45504480 45504480 C G SNP ITGA3 NM_005501 human genbank 54_36p 1 reviewed missense c.1091 p.P364R 1 superfamily_Integrin alpha N-terminal domain "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" - no_errors SGCA 6442 broad.mit.edu 36 17 45600918 45600918 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45600918 45600918 G C SNP SGCA NM_000023 human genbank 54_36p 1 reviewed missense c.570 p.E190D 1 HMMPfam_Sarcoglycan_2 "HMMPfam_Sarcoglycan_2,HMMSmart_SM00736,superfamily_Cadherin-like" - no_errors SGCA 6442 broad.mit.edu 36 17 45602634 45602634 + Silent SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45602634 45602634 C A SNP SGCA NM_000023 human genbank 54_36p 1 reviewed silent c.879 p.T293 0.98 HMMPfam_Sarcoglycan_2 "HMMSmart_SM00736,HMMPfam_Sarcoglycan_2,superfamily_Cadherin-like" - no_errors COL1A1 1277 broad.mit.edu 36 17 45627423 45627423 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 45627423 45627423 C G SNP COL1A1 NM_000088 human genbank 54_36p -1 reviewed missense c.1337 p.G446A 1 HMMPfam_Collagen "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors CHAD 1101 broad.mit.edu 36 17 45898070 45898070 + Missense_Mutation SNP C C T rs35218093 "by-cluster,by-frequency" TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45898070 45898070 C T SNP CHAD NM_001267 human genbank 54_36p -1 reviewed missense c.935 p.R312Q 1 "superfamily_L domain-like,HMMSmart_SM00082" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - no_errors RSAD1 55316 broad.mit.edu 36 17 45915745 45915745 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 45915745 45915745 G A SNP RSAD1 NM_018346 human genbank 54_36p 1 provisional missense c.950 p.R317Q 0.99 "superfamily_SSF102114,HMMPfam_HemN_C" "superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM,HMMPfam_HemN_C" - no_errors MYCBPAP 84073 broad.mit.edu 36 17 45951042 45951042 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 45951042 45951042 C T SNP MYCBPAP NM_032133 human genbank 54_36p 1 validated missense c.628 p.R210C 0.78 NULL NULL - no_errors MYCBPAP 84073 broad.mit.edu 36 17 45951058 45951058 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45951058 45951058 G C SNP MYCBPAP NM_032133 human genbank 54_36p 1 validated missense c.644 p.R215P 1 NULL NULL - no_errors MYCBPAP 84073 broad.mit.edu 36 17 45951439 45951439 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 45951439 45951439 G C SNP MYCBPAP NM_032133 human genbank 54_36p 1 validated missense c.776 p.R259P 0 NULL NULL - no_errors MYCBPAP 84073 broad.mit.edu 36 17 45958430 45958431 + Missense_Mutation DNP CC CC AT novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 45958430 45958431 CC AT DNP MYCBPAP NM_032133 human genbank 54_36p 1 validated missense c.1990_1991 p.P664I 0.000:0.000 NULL NULL - no_errors EPN3 55040 broad.mit.edu 36 17 45973163 45973163 + Silent SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 45973163 45973163 G A SNP EPN3 NM_017957 human genbank 54_36p 1 validated silent c.990 p.P330 0 NULL "superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273,HMMPfam_UIM,HMMSmart_SM00726" - no_errors CACNA1G 8913 broad.mit.edu 36 17 46042290 46042290 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 46042290 46042290 C G SNP CACNA1G NM_018896 human genbank 54_36p 1 validated missense c.4754 p.A1585G 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors WFIKKN2 124857 broad.mit.edu 36 17 46272336 46272336 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 46272336 46272336 C T SNP WFIKKN2 NM_175575 human genbank 54_36p 1 reviewed missense c.688 p.L230F 1 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" ############################################################################################################################################################################################################################################################### - no_errors WFIKKN2 124857 broad.mit.edu 36 17 46272992 46272992 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 46272992 46272992 C A SNP WFIKKN2 NM_175575 human genbank 54_36p 1 reviewed nonsense c.1344 p.C448* 1 superfamily_TIMP_like ############################################################################################################################################################################################################################################################### - no_errors WFIKKN2 124857 broad.mit.edu 36 17 46273082 46273083 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 46273082 46273083 GG TT DNP WFIKKN2 NM_175575 human genbank 54_36p 1 reviewed missense c.1434_1435 p.G479C 0.747:0.998 superfamily_TIMP_like ############################################################################################################################################################################################################################################################### - no_errors SPAG9 9043 broad.mit.edu 36 17 46552871 46552871 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 46552871 46552871 T G SNP SPAG9 NM_003971 human genbank 54_36p -1 reviewed missense c.146 p.E49A 1 HMMPfam_Jnk-SapK_ap_N "HMMPfam_Jnk-SapK_ap_N,superfamily_WD40_like" - no_errors NME1-NME2 654364 broad.mit.edu 36 17 46600614 46600614 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 46600614 46600614 C A SNP NME1-NME2 NM_001018136 human genbank 54_36p 1 validated missense c.484 p.H162N 1 "superfamily_NDK,HMMSmart_NDK,HMMPfam_NDK" "superfamily_NDK,HMMSmart_NDK,HMMPfam_NDK,PatternScan_NDP_KINASES" - no_errors MBTD1 54799 broad.mit.edu 36 17 46625164 46625164 + Silent SNP T T C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 46625164 46625164 T C SNP MBTD1 NM_017643 human genbank 54_36p -1 validated silent c.1176 p.Q392 0.99 "HMMSmart_MBT,superfamily_SSF63748,HMMPfam_MBT" "HMMSmart_MBT,superfamily_SSF63748,HMMPfam_MBT" - no_errors MBTD1 54799 broad.mit.edu 36 17 46627708 46627708 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 46627708 46627708 C A SNP MBTD1 NM_017643 human genbank 54_36p -1 validated missense c.746 p.G249V 1 "HMMPfam_MBT,HMMSmart_MBT,superfamily_SSF63748" "HMMPfam_MBT,HMMSmart_MBT,superfamily_SSF63748" - no_errors CA10 56934 broad.mit.edu 36 17 47180163 47180163 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 47180163 47180163 C T SNP CA10 NM_001082533 human genbank 54_36p -1 reviewed missense c.294 p.M98I 1 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" - no_errors KIF2B 84643 broad.mit.edu 36 17 49256683 49256683 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 49256683 49256683 G C SNP KIF2B NM_032559 human genbank 54_36p 1 validated missense c.1290 p.Q430H 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors COX11 1353 broad.mit.edu 36 17 50400990 50400990 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 50400990 50400990 C A SNP COX11 NM_004375 human genbank 54_36p -1 reviewed missense c.17 p.R6L 0 NULL "HMMPfam_CtaG_Cox11,superfamily_Ctag/Cox11 (Pfam 04442)" - no_errors STXBP4 252983 broad.mit.edu 36 17 50418585 50418585 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 50418585 50418585 T G SNP STXBP4 NM_178509 human genbank 54_36p 1 validated missense c.6 p.N2K 0.67 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1" - no_errors NOG 9241 broad.mit.edu 36 17 52027168 52027168 + Silent SNP C C T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 52027168 52027168 C T SNP NOG NM_005450 human genbank 54_36p 1 reviewed silent c.585 p.S195 1 "HMMPfam_Noggin,superfamily_SSF57501" "HMMPfam_Noggin,superfamily_SSF57501" - no_errors DGKE 8526 broad.mit.edu 36 17 52267221 52267221 + Silent SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 52267221 52267221 G C SNP DGKE NM_003647 human genbank 54_36p 1 reviewed silent c.66 p.L22 1 NULL "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_4FE4S_FER_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors DGKE 8526 broad.mit.edu 36 17 52267336 52267336 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 52267336 52267336 G T SNP DGKE NM_003647 human genbank 54_36p 1 reviewed missense c.181 p.G61W 1 "HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain" "HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,PatternScan_4FE4S_FER_1,superfamily_Cysteine-rich domain" - no_errors COIL 8161 broad.mit.edu 36 17 52374485 52374485 + Splice_Site SNP T T A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 52374485 52374485 T A SNP COIL NM_004645 human genbank 54_36p -1 reviewed splice_site c.1559-2 e6-2 1 - - - no_errors MSI2 124540 broad.mit.edu 36 17 52689853 52689853 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 52689853 52689853 T G SNP MSI2 NM_138962 human genbank 54_36p 1 reviewed missense c.131 p.F44C 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors SRSF1 6426 broad.mit.edu 36 17 53438293 53438293 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 53438293 53438293 G T SNP SFRS1 NM_006924 human genbank 54_36p -1 reviewed missense c.420 p.H140Q 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors SRSF1 6426 broad.mit.edu 36 17 53439347 53439347 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 17 53439347 53439347 G A SNP SFRS1 NM_006924 human genbank 54_36p -1 reviewed missense c.151 p.R51C 1 "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors OR4D2 124538 broad.mit.edu 36 17 53602640 53602640 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 53602640 53602640 G A SNP OR4D2 NM_001004707 human genbank 54_36p 1 provisional missense c.625 p.V209I 0.2 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors EPX 8288 broad.mit.edu 36 17 53636619 53636619 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 53636619 53636619 C A SNP EPX NM_000502 human genbank 54_36p 1 validated missense c.1984 p.Q662K 1 "superfamily_Peroxidase_super,HMMPfam_An_peroxidase" "PatternScan_PEROXIDASE_2,superfamily_Peroxidase_super,HMMPfam_An_peroxidase,PatternScan_PEROXIDASE_1" - no_errors MKS1 54903 broad.mit.edu 36 17 53638477 53638477 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 53638477 53638477 G A SNP MKS1 NM_017777 human genbank 54_36p -1 validated nonsense c.1642 p.Q548* 1 NULL HMMPfam_B9 - no_errors LPO 4025 broad.mit.edu 36 17 53684649 53684649 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 53684649 53684649 G T SNP LPO NM_006151 human genbank 54_36p 1 validated missense c.888 p.Q296H 1 "superfamily_Peroxidase_super,HMMPfam_An_peroxidase" "PatternScan_PEROXIDASE_1,PatternScan_PEROXIDASE_2,superfamily_Peroxidase_super,HMMPfam_An_peroxidase" - no_errors BZRAP1 9256 broad.mit.edu 36 17 53737957 53737957 + Silent SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 53737957 53737957 G C SNP BZRAP1 NM_004758 human genbank 54_36p -1 validated silent c.5304 p.S1768 0.93 "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" "superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" - no_errors RNF43 54894 broad.mit.edu 36 17 53795899 53795899 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 53795899 53795899 G C SNP RNF43 NM_017763 human genbank 54_36p -1 validated missense c.437 p.A146G 0.96 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RNF43 54894 broad.mit.edu 36 17 53803294 53803294 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 53803294 53803294 G T SNP RNF43 NM_017763 human genbank 54_36p -1 validated missense c.352 p.P118T 1 NULL "HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors HSF5 124535 broad.mit.edu 36 17 53912476 53912476 + Silent SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 53912476 53912476 G A SNP HSF5 NM_001080439 human genbank 54_36p -1 provisional silent c.702 p.S234 1 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00415,HMMPfam_HSF_DNA-bind" - no_errors HSF5 124535 broad.mit.edu 36 17 53912582 53912582 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 53912582 53912582 C G SNP HSF5 NM_001080439 human genbank 54_36p -1 provisional missense c.596 p.S199T 1 HMMPfam_HSF_DNA-bind "HMMPfam_HSF_DNA-bind,HMMSmart_SM00415,superfamily_Winged helix DNA-binding domain" - no_errors SEPT4 5414 broad.mit.edu 36 17 53959317 53959317 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 53959317 53959317 T G SNP SEPT4 NM_004574 human genbank 54_36p -1 reviewed missense c.82 p.T28P 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Septin" - no_errors TEX14 56155 broad.mit.edu 36 17 54016917 54016917 + Silent SNP A A G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 54016917 54016917 A G SNP TEX14 NM_198393 human genbank 54_36p -1 reviewed silent c.3114 p.H1038 0.29 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr" - no_errors PPM1E 22843 broad.mit.edu 36 17 54188467 54188468 + In_Frame_Ins INS - CGAACC - novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 54188467 54188468 - CGAACC INS PPM1E NM_014906 human genbank 54_36p 1 reviewed in_frame_ins c.110_111 p.41in_frame_insPE 0.984:0.986 NULL "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C,PatternScan_PP2C" - no_errors PPM1E 22843 broad.mit.edu 36 17 54412474 54412474 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 54412474 54412474 G T SNP PPM1E NM_014906 human genbank 54_36p 1 reviewed missense c.1568 p.G523V 1 NULL "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C,PatternScan_PP2C" - no_errors PRR11 55771 broad.mit.edu 36 17 54617249 54617265 + Frame_Shift_Del DEL TCCTGGAACTTCAATTT - TCCTGGAACTTCAATTT novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D TCCTGGAACTTCAATTT TCCTGGAACTTCAATTT - - TCCTGGAACTTCAATTT TCCTGGAACTTCAATTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 54617249 54617265 TCCTGGAACTTCAATTT - DEL PRR11 NM_018304 human genbank 54_36p 1 validated frame_shift_del c.181_197 p.W62fs 0.045:0.116:0.184:0.203:0.191:0.124:0.037:0.019:0.001:0.002:0.002:0.001:0.001:0.000:0.001:0.004:0.007 NULL NULL "(deletion:cds_exon[54617197,54617347])" no_errors PRR11 55771 broad.mit.edu 36 17 54633755 54633755 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 54633755 54633755 G A SNP PRR11 NM_018304 human genbank 54_36p 1 validated missense c.1064 p.S355N 1 NULL NULL - no_errors CLTC 1213 broad.mit.edu 36 17 55115150 55115150 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 17 55115150 55115150 A G SNP CLTC NM_004859 human genbank 54_36p 1 reviewed missense c.3866 p.Y1289C 1 "superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299" "superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel,HMMPfam_Clathrin-link,superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_Protein prenylyltransferase" - no_errors TUBD1 51174 broad.mit.edu 36 17 55292559 55292559 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 55292559 55292559 A G SNP TUBD1 NM_016261 human genbank 54_36p -1 validated missense c.1268 p.I423T 1 superfamily_Tubulin C-terminal domain-like "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like" - no_errors HEATR6 63897 broad.mit.edu 36 17 55475917 55475917 + Nonsense_Mutation SNP G G C novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 55475917 55475917 G C SNP HEATR6 NM_022070 human genbank 54_36p -1 validated nonsense c.3335 p.S1112* 0.99 NULL "superfamily_ARM-type_fold,HMMPfam_HEAT" - no_errors HEATR6 63897 broad.mit.edu 36 17 55504362 55504362 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 55504362 55504362 C A SNP HEATR6 NM_022070 human genbank 54_36p -1 validated missense c.695 p.C232F 1 NULL "HMMPfam_HEAT,superfamily_ARM-type_fold" - no_errors CA4 762 broad.mit.edu 36 17 55591421 55591421 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 55591421 55591421 A G SNP CA4 NM_000717 human genbank 54_36p 1 reviewed missense c.793 p.S265G 0.01 "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase" "superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1" - no_errors TBX2 6909 broad.mit.edu 36 17 56840454 56840454 + Silent SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 56840454 56840454 C T SNP TBX2 NM_005994 human genbank 54_36p 1 validated silent c.1914 p.A638 0.2 NULL "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors TBX4 9496 broad.mit.edu 36 17 56889756 56889756 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 56889756 56889756 T C SNP TBX4 NM_018488 human genbank 54_36p 1 reviewed missense c.263 p.I88T 1 "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1" "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors NACA2 342538 broad.mit.edu 36 17 57023095 57023095 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 57023095 57023095 G A SNP NACA2 NM_199290 human genbank 54_36p -1 validated missense c.229 p.R77W 1 HMMPfam_NAC "HMMPfam_NAC,HMMPfam_UBA" - no_errors BRIP1 83990 broad.mit.edu 36 17 57208692 57208692 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 57208692 57208692 G A SNP BRIP1 NM_032043 human genbank 54_36p -1 reviewed missense c.1949 p.T650I 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMSmart_SM00487,HMMPfam_DEAD_2,HMMSmart_SM00491" - no_errors MED13 9969 broad.mit.edu 36 17 57414887 57414887 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 57414887 57414887 C G SNP MED13 NM_005121 human genbank 54_36p -1 reviewed missense c.3259 p.D1087H 1 NULL HMMPfam_TRAP_240kDa - no_errors TANC2 26115 broad.mit.edu 36 17 58849500 58849500 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 58849500 58849500 G A SNP TANC2 NM_025185 human genbank 54_36p 1 validated missense c.4016 p.R1339K 1 "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like" "HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ACE 1636 broad.mit.edu 36 17 58914644 58914644 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 58914644 58914644 T A SNP ACE NM_000789 human genbank 54_36p 1 reviewed missense c.1579 p.Y527N 0.99 "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors KCNH6 81033 broad.mit.edu 36 17 58955404 58955404 + Silent SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 58955404 58955404 G T SNP KCNH6 NM_030779 human genbank 54_36p 1 reviewed silent c.249 p.A83 0.96 "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS" "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors KCNH6 81033 broad.mit.edu 36 17 58976853 58976853 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 58976853 58976853 C T SNP KCNH6 NM_030779 human genbank 54_36p 1 reviewed missense c.2843 p.P948L 0.22 NULL "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors STRADA 92335 broad.mit.edu 36 17 59138401 59138401 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 59138401 59138401 G C SNP STRADA NM_001003787 human genbank 54_36p -1 validated missense c.691 p.H231D 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" - no_errors DDX42 11325 broad.mit.edu 36 17 59239996 59239996 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 59239996 59239996 G A SNP DDX42 NM_007372 human genbank 54_36p 1 reviewed missense c.1108 p.A370T 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors PSMC5 5705 broad.mit.edu 36 17 59262161 59262161 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 59262161 59262161 C T SNP PSMC5 NM_002805 human genbank 54_36p 1 reviewed missense c.713 p.A238V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors GH2 2689 broad.mit.edu 36 17 59311533 59311533 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 17 59311533 59311533 G T SNP GH2 NM_022558 human genbank 54_36p -1 reviewed missense c.530 p.T177K 0.95 NULL "HMMPfam_Hormone_1,superfamily_4_helix_cytokine,PatternScan_SOMATOTROPIN_1" - no_errors SCN4A 6329 broad.mit.edu 36 17 59378218 59378218 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 59378218 59378218 C T SNP SCN4A NM_000334 human genbank 54_36p -1 reviewed silent c.3360 p.S1120 0.61 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ" - no_errors ICAM2 3384 broad.mit.edu 36 17 59436313 59436313 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 59436313 59436313 G A SNP ICAM2 NM_000873 human genbank 54_36p -1 reviewed nonsense c.214 p.Q72* 0 "HMMPfam_ICAM_N,superfamily_Immunoglobulin" "HMMPfam_ICAM_N,superfamily_Immunoglobulin" - no_errors DDX5 1655 broad.mit.edu 36 17 59929591 59929591 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 59929591 59929591 T C SNP DDX5 NM_004396 human genbank 54_36p -1 validated missense c.898 p.I300V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_P68HR" - no_errors RGS9 8787 broad.mit.edu 36 17 60651880 60651880 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 60651880 60651880 G A SNP RGS9 NM_003835 human genbank 54_36p 1 validated missense c.1706 p.R569Q 0 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_Transducin (heterotrimeric G protein) gamma chain,HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors HELZ 9931 broad.mit.edu 36 17 62629903 62629903 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 62629903 62629903 C A SNP HELZ NM_014877 human genbank 54_36p -1 validated missense c.366 p.E122D 1 NULL "superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF52540,HMMPfam_PAM2" - no_errors BPTF 2186 broad.mit.edu 36 17 63331364 63331364 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 63331364 63331364 G C SNP BPTF NM_182641 human genbank 54_36p 1 reviewed missense c.2758 p.V920L 1 NULL "HMMPfam_FYDLN_acid,HMMPfam_DDT,HMMSmart_DDT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_EGF_2,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors BPTF 2186 broad.mit.edu 36 17 63338212 63338212 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 63338212 63338212 G T SNP BPTF NM_182641 human genbank 54_36p 1 reviewed missense c.3750 p.K1250N 0.01 NULL "HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,HMMPfam_DDT,superfamily_FYVE_PHD_ZnF,HMMPfam_FYDLN_acid,PatternScan_EGF_2,PatternScan_BROMODOMAIN_1,HMMSmart_DDT,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors ABCA8 10351 broad.mit.edu 36 17 64383005 64383005 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64383005 64383005 C T SNP ABCA8 NM_007168 human genbank 54_36p -1 reviewed missense c.4502 p.R1501Q 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_errors ABCA8 10351 broad.mit.edu 36 17 64413882 64413882 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64413882 64413882 C A SNP ABCA8 NM_007168 human genbank 54_36p -1 reviewed missense c.2176 p.D726Y 0.94 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA9 10350 broad.mit.edu 36 17 64526224 64526224 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 64526224 64526224 G A SNP ABCA9 NM_080283 human genbank 54_36p -1 reviewed missense c.2692 p.P898S 0.79 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_errors ABCA9 10350 broad.mit.edu 36 17 64539997 64539997 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64539997 64539997 C T SNP ABCA9 NM_080283 human genbank 54_36p -1 reviewed missense c.1292 p.R431Q 0 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA9 10350 broad.mit.edu 36 17 64558770 64558770 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64558770 64558770 C G SNP ABCA9 NM_080283 human genbank 54_36p -1 reviewed missense c.93 p.L31F 0.01 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA6 23460 broad.mit.edu 36 17 64590624 64590624 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64590624 64590624 G A SNP ABCA6 NM_080284 human genbank 54_36p -1 reviewed missense c.4601 p.A1534V 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" - no_errors ABCA6 23460 broad.mit.edu 36 17 64637467 64637467 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 17 64637467 64637467 T G SNP ABCA6 NM_080284 human genbank 54_36p -1 reviewed missense c.812 p.Y271S 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA10 10349 broad.mit.edu 36 17 64683231 64683231 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64683231 64683231 G A SNP ABCA10 NM_080282 human genbank 54_36p -1 reviewed missense c.2788 p.L930F 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA10 10349 broad.mit.edu 36 17 64695444 64695444 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64695444 64695444 C A SNP ABCA10 NM_080282 human genbank 54_36p -1 reviewed missense c.2303 p.R768M 0.11 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ABCA5 23461 broad.mit.edu 36 17 64763521 64763521 + Silent SNP T T A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 64763521 64763521 T A SNP ABCA5 NM_018672 human genbank 54_36p -1 reviewed silent c.3924 p.S1308 0.98 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA5 23461 broad.mit.edu 36 17 64778399 64778399 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 64778399 64778399 G T SNP ABCA5 NM_018672 human genbank 54_36p -1 reviewed missense c.2980 p.H994N 0.98 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MAP2K6 5608 broad.mit.edu 36 17 65028789 65028789 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 65028789 65028789 T G SNP MAP2K6 NM_002758 human genbank 54_36p 1 reviewed missense c.488 p.V163G 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SLC39A11 201266 broad.mit.edu 36 17 68156995 68156995 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 68156995 68156995 C G SNP SLC39A11 NM_139177 human genbank 54_36p -1 provisional missense c.679 p.A227P 1 HMMPfam_Zip HMMPfam_Zip - no_errors SDK2 54549 broad.mit.edu 36 17 68899226 68899226 + Silent SNP C C T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 68899226 68899226 C T SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known silent c.2982 p.T994 0.98 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors TTYH2 94015 broad.mit.edu 36 17 69758052 69758052 + Silent SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 69758052 69758052 C T SNP TTYH2 NM_032646 human genbank 54_36p 1 reviewed silent c.1077 p.H359 1 HMMPfam_Tweety HMMPfam_Tweety - no_errors TTYH2 94015 broad.mit.edu 36 17 69760870 69760870 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 69760870 69760870 C T SNP TTYH2 NM_032646 human genbank 54_36p 1 reviewed missense c.1315 p.R439C 0.96 NULL HMMPfam_Tweety - no_errors DNAI2 64446 broad.mit.edu 36 17 69813052 69813052 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 69813052 69813052 C T SNP DNAI2 NM_023036 human genbank 54_36p 1 validated missense c.1087 p.H363Y 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors KIF19 124602 broad.mit.edu 36 17 69862025 69862025 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 69862025 69862025 A C SNP KIF19 NM_153209 human genbank 54_36p 1 validated missense c.2438 p.H813P 1 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors GPR142 350383 broad.mit.edu 36 17 69875436 69875436 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 69875436 69875436 G A SNP GPR142 NM_181790 human genbank 54_36p 1 provisional nonsense c.197 p.W66* 1 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CD300A 11314 broad.mit.edu 36 17 69982300 69982300 + Silent SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 69982300 69982300 G T SNP CD300A NM_007261 human genbank 54_36p 1 validated silent c.414 p.A138 0 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" - no_errors CD300E 342510 broad.mit.edu 36 17 70125004 70125004 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70125004 70125004 C G SNP CD300E NM_181449 human genbank 54_36p -1 provisional missense c.236 p.R79T 1 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors GRIN2C 2905 broad.mit.edu 36 17 70353800 70353800 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70353800 70353800 C T SNP GRIN2C NM_000835 human genbank 54_36p -1 reviewed missense c.2350 p.G784R 1 "superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors FADS6 283985 broad.mit.edu 36 17 70386174 70386175 + Missense_Mutation DNP GT GT CG novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 70386174 70386175 GT CG DNP FADS6 NM_178128 human genbank 54_36p -1 validated missense c.934_933 p.R312G 0.387:0.453 HMMPfam_FA_desaturase HMMPfam_FA_desaturase - no_errors OTOP2 92736 broad.mit.edu 36 17 70438657 70438657 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70438657 70438657 A T SNP OTOP2 NM_178160 human genbank 54_36p 1 provisional missense c.1332 p.Q444H 0.1 NULL HMMPfam_DUF270 - no_errors ICT1 3396 broad.mit.edu 36 17 70528198 70528198 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70528198 70528198 G C SNP ICT1 NM_001545 human genbank 54_36p 1 reviewed missense c.387 p.R129S 0.29 "superfamily_Peptidyl-tRNA hydrolase domain-like,HMMPfam_RF-1" "superfamily_Peptidyl-tRNA hydrolase domain-like,HMMPfam_RF-1" - no_errors MIF4GD 57409 broad.mit.edu 36 17 70775508 70775508 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70775508 70775508 G A SNP MIF4GD NM_020679 human genbank 54_36p -1 validated nonsense c.364 p.Q122* 1 "HMMPfam_MIF4G,superfamily_ARM-type_fold" "HMMPfam_MIF4G,superfamily_ARM-type_fold" - no_errors SLC25A19 60386 broad.mit.edu 36 17 70791212 70791212 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70791212 70791212 G A SNP SLC25A19 NM_021734 human genbank 54_36p -1 reviewed missense c.346 p.R116W 0.21 superfamily_Mitochondrial carrier "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr,PatternScan_IG_MHC" - no_errors GRB2 2885 broad.mit.edu 36 17 70829413 70829413 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 70829413 70829413 C G SNP GRB2 NM_002086 human genbank 54_36p -1 reviewed missense c.390 p.E130D 1 "superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors KIAA0195 9772 broad.mit.edu 36 17 71000178 71000178 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71000178 71000178 A C SNP KIAA0195 NM_014738 human genbank 54_36p 1 validated missense c.1625 p.Y542S 0.05 NULL superfamily_Calcium ATPase transmembrane domain M - no_errors KIAA0195 9772 broad.mit.edu 36 17 71002622 71002622 + Silent SNP C C G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71002622 71002622 C G SNP KIAA0195 NM_014738 human genbank 54_36p 1 validated silent c.2640 p.S880 1 NULL superfamily_Calcium ATPase transmembrane domain M - no_errors CASKIN2 57513 broad.mit.edu 36 17 71012705 71012705 + Silent SNP G G A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71012705 71012705 G A SNP CASKIN2 NM_020753 human genbank 54_36p -1 validated silent c.975 p.H325 0.97 "superfamily_Ankyrin repeat,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_1" - no_errors TSEN54 283989 broad.mit.edu 36 17 71031376 71031376 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 71031376 71031376 G C SNP TSEN54 NM_207346 human genbank 54_36p 1 validated missense c.1351 p.D451H 1 NULL NULL - no_errors TSEN54 283989 broad.mit.edu 36 17 71031999 71031999 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71031999 71031999 G T SNP TSEN54 NM_207346 human genbank 54_36p 1 validated missense c.1492 p.V498F 1 NULL NULL - no_errors SAP30BP 29115 broad.mit.edu 36 17 71210211 71210211 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 71210211 71210211 C T SNP SAP30BP NM_013260 human genbank 54_36p 1 validated silent c.453 p.Y151 1 HMMPfam_HCNGP HMMPfam_HCNGP - no_errors TRIM47 91107 broad.mit.edu 36 17 71383647 71383647 + Silent SNP G G A novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 71383647 71383647 G A SNP TRIM47 NM_033452 human genbank 54_36p -1 validated silent c.1131 p.C377 0.01 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain" - no_errors MRPL38 64978 broad.mit.edu 36 17 71408918 71408918 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71408918 71408918 G A SNP MRPL38 NM_032478 human genbank 54_36p -1 reviewed missense c.521 p.A174V 1 "superfamily_PEBP,HMMPfam_PBP" "superfamily_PEBP,HMMPfam_PBP" - no_errors ACOX1 51 broad.mit.edu 36 17 71467984 71467984 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71467984 71467984 G T SNP ACOX1 NM_004035 human genbank 54_36p -1 reviewed missense c.337 p.H113N 1 superfamily_AcylCoA_dehyd_NM "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_M,PatternScan_AA_TRNA_LIGASE_I,superfamily_AcylCoADH_C_like,HMMPfam_ACOX" - no_errors EVPL 2125 broad.mit.edu 36 17 71517587 71517587 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71517587 71517587 C A SNP EVPL NM_001988 human genbank 54_36p -1 validated missense c.3294 p.Q1098H 1 NULL "superfamily_Spectrin repeat,HMMSmart_SM00150,HMMSmart_SM00250,superfamily_Prefoldin,superfamily_Plakin repeat,HMMPfam_Plectin" - no_errors SRP68 6730 broad.mit.edu 36 17 71558199 71558199 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 71558199 71558199 C T SNP SRP68 NM_014230 human genbank 54_36p -1 reviewed missense c.982 p.E328K 1 NULL superfamily_TPR-like - no_errors RNF157 114804 broad.mit.edu 36 17 71663969 71663969 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 71663969 71663969 T G SNP RNF157 NM_052916 human genbank 54_36p -1 validated missense c.1442 p.N481T 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors QRICH2 84074 broad.mit.edu 36 17 71801315 71801315 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71801315 71801315 T C SNP QRICH2 NM_032134 human genbank 54_36p -1 provisional missense c.590 p.Q197R 0 NULL NULL - no_errors QRICH2 84074 broad.mit.edu 36 17 71801356 71801357 + Missense_Mutation DNP GG GG AA novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71801356 71801357 GG AA DNP QRICH2 NM_032134 human genbank 54_36p -1 provisional missense c.549_548 p.T183I 0.000:0.000 NULL NULL - no_errors SPHK1 8877 broad.mit.edu 36 17 71894576 71894576 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71894576 71894576 A G SNP SPHK1 NM_182965 human genbank 54_36p 1 validated missense c.727 p.T243A 0.33 NULL "HMMPfam_DAGK_cat,HMMSmart_SM00046" - no_errors UBE2O 63893 broad.mit.edu 36 17 71898707 71898713 + Frame_Shift_Del DEL CCCTTGG - CCCTTGG novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CCCTTGG CCCTTGG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 71898707 71898713 CCCTTGG - DEL UBE2O NM_022066 human genbank 54_36p -1 validated frame_shift_del c.3791_3785 p.S1262fs 1.000:1.000:1.000:1.000:1.000:0.996:1.000 NULL "PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con" "(deletion:cds_exon[71898619,71899289])" no_errors UBE2O 63893 broad.mit.edu 36 17 71898724 71898724 + Silent SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 71898724 71898724 G C SNP UBE2O NM_022066 human genbank 54_36p -1 validated silent c.3774 p.L1258 1 NULL "PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con" - no_errors CYGB 114757 broad.mit.edu 36 17 72039287 72039287 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 72039287 72039287 G T SNP CYGB NM_134268 human genbank 54_36p -1 validated missense c.225 p.S75R 0.08 "superfamily_Globin-like,HMMPfam_Globin" "superfamily_Globin-like,HMMPfam_Globin" - no_errors JMJD6 23210 broad.mit.edu 36 17 72233477 72233477 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 72233477 72233477 C A SNP JMJD6 NM_001081461 human genbank 54_36p -1 reviewed missense c.185 p.R62L 1 superfamily_Clavaminate synthase-like "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors JMJD6 23210 broad.mit.edu 36 17 72234131 72234131 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 72234131 72234131 G T SNP JMJD6 NM_001081461 human genbank 54_36p -1 reviewed missense c.22 p.R8S 1 NULL "HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like" - no_errors MGAT5B 146664 broad.mit.edu 36 17 72389849 72389849 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 72389849 72389849 G A SNP MGAT5B NM_198955 human genbank 54_36p 1 validated missense c.236 p.R79H 1 NULL NULL - no_errors MGAT5B 146664 broad.mit.edu 36 17 72389851 72389851 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 72389851 72389851 G A SNP MGAT5B NM_198955 human genbank 54_36p 1 validated missense c.238 p.G80S 0.99 NULL NULL - no_errors SEC14L1 6397 broad.mit.edu 36 17 72698958 72698959 + Missense_Mutation DNP GG GG CC novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 72698958 72698959 GG CC DNP SEC14L1 NM_001039573 human genbank 54_36p 1 reviewed missense c.314_315 p.R105P 1.000:0.969 HMMPfam_PRELI "HMMPfam_PRELI,superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,HMMPfam_CRAL_TRIO,superfamily_Supernatant protein factor (SPF) C-terminal domain" - no_errors SEPT9 10801 broad.mit.edu 36 17 72995966 72995966 + Silent SNP A A T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 72995966 72995966 A T SNP SEPT9 NM_006640 human genbank 54_36p 1 reviewed silent c.1038 p.P346 0.55 "superfamily_SSF52540,HMMPfam_Septin" "PatternScan_XYLOSE_ISOMERASE_1,superfamily_SSF52540,HMMPfam_Septin" - no_errors TMC8 147138 broad.mit.edu 36 17 73646067 73646067 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 73646067 73646067 C T SNP TMC8 NM_152468 human genbank 54_36p 1 reviewed missense c.1576 p.R526C 1 HMMPfam_TMC HMMPfam_TMC - no_errors DNAH17 8632 broad.mit.edu 36 17 73967479 73967479 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 73967479 73967479 G C SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.9620 p.A3207G 1 NULL "HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy" - no_errors DNAH17 8632 broad.mit.edu 36 17 73969358 73969359 + Missense_Mutation DNP TC TC AG novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 73969358 73969359 TC AG DNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.9187_9186 p.I3063F 0.001:0.001 NULL "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH17 8632 broad.mit.edu 36 17 74022601 74022601 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 74022601 74022601 C A SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.3954 p.R1318S 0.48 HMMPfam_DHC_N2 "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH17 8632 broad.mit.edu 36 17 74034652 74034652 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 74034652 74034652 T G SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.3520 p.N1174H 0.85 superfamily_Spectrin repeat "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH17 8632 broad.mit.edu 36 17 74034664 74034664 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 17 74034664 74034664 C G SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.3508 p.E1170Q 1 superfamily_Spectrin repeat "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors USP36 57602 broad.mit.edu 36 17 74311298 74311298 + Silent SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 74311298 74311298 G A SNP USP36 NM_025090 human genbank 54_36p -1 validated silent c.2574 p.S858 0 NULL "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_IG_MHC" - no_errors USP36 57602 broad.mit.edu 36 17 74311393 74311393 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 74311393 74311393 T C SNP USP36 NM_025090 human genbank 54_36p -1 validated missense c.2479 p.T827A 0 NULL "HMMPfam_UCH,PatternScan_IG_MHC,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001" - no_errors ENPP7 339221 broad.mit.edu 36 17 75325572 75325572 + Silent SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75325572 75325572 C T SNP ENPP7 NM_178543 human genbank 54_36p 1 validated silent c.1164 p.Y388 1 superfamily_Alkaline_phosphatase_core "superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest" - no_errors CBX8 57332 broad.mit.edu 36 17 75383403 75383403 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75383403 75383403 G A SNP CBX8 NM_020649 human genbank 54_36p -1 provisional missense c.796 p.P266S 0.98 NULL "superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,PatternScan_CHROMO_1" - no_errors CBX4 8535 broad.mit.edu 36 17 75423079 75423080 + Missense_Mutation DNP CT CT GA novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75423079 75423080 CT GA DNP CBX4 NM_003655 human genbank 54_36p -1 validated missense c.957_956 p.K319I 0.075:0.210 NULL "superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,PatternScan_CHROMO_1" - no_errors TBC1D16 125058 broad.mit.edu 36 17 75538167 75538168 + Missense_Mutation DNP CT CT GC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75538167 75538168 CT GC DNP TBC1D16 NM_019020 human genbank 54_36p -1 provisional missense c.1350_1349 p.E450G 1.000:1.000 "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors CCDC40 55036 broad.mit.edu 36 17 75678206 75678206 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 75678206 75678206 G A SNP CCDC40 NM_017950 human genbank 54_36p 1 validated missense c.2760 p.M920I 1 NULL HMMPfam_BRE1 - no_errors CCDC40 55036 broad.mit.edu 36 17 75678253 75678254 + Missense_Mutation DNP TG TG AC novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75678253 75678254 TG AC DNP CCDC40 NM_017950 human genbank 54_36p 1 validated missense c.2807_2808 p.M936N 1.000:1.000 NULL HMMPfam_BRE1 - no_errors GAA 2548 broad.mit.edu 36 17 75696026 75696026 + Nonsense_Mutation SNP T T G novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75696026 75696026 T G SNP GAA NM_000152 human genbank 54_36p 1 reviewed nonsense c.768 p.Y256* 0 NULL "superfamily_P_trefoil,HMMSmart_PD,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Glyco_hydro_31,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2" - no_errors GAA 2548 broad.mit.edu 36 17 75707153 75707153 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 75707153 75707153 C A SNP GAA NM_000152 human genbank 54_36p 1 reviewed missense c.2753 p.S918Y 0.55 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_PD,superfamily_P_trefoil,superfamily_Glyco_hydro_cat,PatternScan_P_TREFOIL" - no_errors CARD14 79092 broad.mit.edu 36 17 75783598 75783598 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 75783598 75783598 C T SNP CARD14 NM_024110 human genbank 54_36p 1 reviewed missense c.1370 p.S457L 0.37 NULL "superfamily_DEATH domain,HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CARD14 79092 broad.mit.edu 36 17 75786558 75786558 + Splice_Site SNP T T G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75786558 75786558 T G SNP CARD14 NM_024110 human genbank 54_36p 1 reviewed splice_site c.1658+2 e11+2 0.44 - - - no_errors CARD14 79092 broad.mit.edu 36 17 75786892 75786892 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 75786892 75786892 C T SNP CARD14 NM_024110 human genbank 54_36p 1 reviewed silent c.1758 p.I586 0.98 superfamily_PDZ domain-like "HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SGSH 6448 broad.mit.edu 36 17 75799370 75799370 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 75799370 75799370 G A SNP SGSH NM_000199 human genbank 54_36p -1 reviewed missense c.985 p.P329S 0.99 "superfamily_Alkaline_phosphatase_core,HMMPfam_Sulfatase" "superfamily_Alkaline_phosphatase_core,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2" - no_errors SLC26A11 284129 broad.mit.edu 36 17 75837594 75837594 + Silent SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75837594 75837594 C T SNP SLC26A11 NM_173626 human genbank 54_36p 1 provisional silent c.1569 p.S523 1 "superfamily_STAS,HMMPfam_STAS" "PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS" - no_errors RNF213 57674 broad.mit.edu 36 17 75934213 75934213 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 75934213 75934213 A C SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.1702 p.I568L 0.57 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RNF213 57674 broad.mit.edu 36 17 75935684 75935684 + Frame_Shift_Del DEL G - - novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 75935684 75935684 G - DEL RNF213 NM_020914 human genbank 54_36p 1 validated frame_shift_del c.3173 p.N1059fs 0.98 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "(deletion:cds_exon[75933073,75936681])" no_errors RNF213 57674 broad.mit.edu 36 17 75952064 75952064 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 75952064 75952064 C A SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.5848 p.P1950T 0.82 NULL "HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box" - no_errors RPTOR 57521 broad.mit.edu 36 17 76535654 76535654 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 76535654 76535654 A C SNP KIAA1303 NM_020761 human genbank 54_36p 1 validated missense c.3173 p.D1058A 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320" "superfamily_ARM repeat,HMMPfam_HEAT,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors AATK 9625 broad.mit.edu 36 17 76707865 76707866 + In_Frame_Ins INS - GGGCGT - novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 76707865 76707866 - GGGCGT INS AATK NM_001080395 human genbank 54_36p -1 reviewed in_frame_ins c.4075_4074 p.1358in_frame_insTP 0.083:0.081 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors AZI1 22994 broad.mit.edu 36 17 76779382 76779382 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 76779382 76779382 G C SNP AZI1 NM_014984 human genbank 54_36p -1 validated missense c.2863 p.L955V 0.02 NULL NULL - no_errors TMEM105 284186 broad.mit.edu 36 17 76902259 76902259 + Silent SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 76902259 76902259 G T SNP TMEM105 NM_178520 human genbank 54_36p -1 provisional silent c.177 p.S59 0 NULL NULL - no_errors BAHCC1 57597 broad.mit.edu 36 17 77045297 77045297 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 77045297 77045297 G T SNP BAHCC1 NM_001080519 human genbank 54_36p 1 inferred missense c.8052 p.Q2684H 1 "HMMPfam_BAH,HMMSmart_SM00439" "HMMPfam_BAH,HMMSmart_SM00439" - no_errors ACTG1 71 broad.mit.edu 36 17 77093073 77093073 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 77093073 77093073 G C SNP ACTG1 NM_001614 human genbank 54_36p -1 reviewed missense c.538 p.L180V 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2" - no_errors C17orf70 80233 broad.mit.edu 36 17 77123352 77123352 + Frame_Shift_Del DEL A - A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 77123352 77123352 A - DEL C17orf70 NM_001109760 human genbank 54_36p -1 validated frame_shift_del c.2183 p.L728fs 0.87 NULL NULL "(deletion:cds_exon[77123225,77123361])" no_errors NPLOC4 55666 broad.mit.edu 36 17 77190937 77190937 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 77190937 77190937 G C SNP NPLOC4 NM_017921 human genbank 54_36p -1 validated missense c.239 p.S80W 0.99 NULL "HMMPfam_zf-NPL4,HMMPfam_NPL4,superfamily_NZF domain,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors TSPAN10 83882 broad.mit.edu 36 17 77225421 77225421 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 77225421 77225421 G T SNP TSPAN10 ENST00000328585 human ensembl 54_36p 1 known missense c.760 p.V254F 0 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors SLC25A10 1468 broad.mit.edu 36 17 77293168 77293168 + Silent SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 77293168 77293168 C G SNP SLC25A10 NM_012140 human genbank 54_36p 1 provisional silent c.369 p.V123 0.99 "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" - no_errors PCYT2 5833 broad.mit.edu 36 17 77457663 77457664 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 77457663 77457664 GG TT DNP PCYT2 NM_002861 human genbank 54_36p -1 provisional missense c.728_727 p.P243N 1.000:1.000 "superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2" "superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2" - no_errors NOTUM 147111 broad.mit.edu 36 17 77504235 77504235 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 77504235 77504235 C A SNP NOTUM NM_178493 human genbank 54_36p -1 validated missense c.1185 p.M395I 1 NULL HMMPfam_PAE - no_errors DUS1L 64118 broad.mit.edu 36 17 77614135 77614135 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 77614135 77614135 A G SNP DUS1L NM_022156 human genbank 54_36p -1 validated missense c.401 p.L134S 1 "superfamily_SSF51395,HMMPfam_Dus" "superfamily_SSF51395,HMMPfam_Dus,PatternScan_UPF0034" - no_errors SLC16A3 9123 broad.mit.edu 36 17 77788974 77788974 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 77788974 77788974 G C SNP SLC16A3 NM_001042422 human genbank 54_36p 1 validated missense c.1039 p.V347L 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors C17orf101 79701 broad.mit.edu 36 17 77966618 77966618 + Silent SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 77966618 77966618 C T SNP C17orf101 NM_175902 human genbank 54_36p -1 predicted silent c.249 p.G83 0.72 NULL HMMSmart_SM00702 - no_errors NARF 26502 broad.mit.edu 36 17 78032319 78032319 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 78032319 78032319 G T SNP NARF NM_012336 human genbank 54_36p 1 reviewed nonsense c.712 p.E238* 1 "superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C" "superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C,HMMPfam_Fe_hyd_SSU" - no_errors FN3KRP 79672 broad.mit.edu 36 17 78270216 78270216 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 17 78270216 78270216 T A SNP FN3KRP NM_024619 human genbank 54_36p 1 validated missense c.287 p.L96Q 0.85 "superfamily_Kinase_like,HMMPfam_Fructosamin_kin" "superfamily_Kinase_like,HMMPfam_Fructosamin_kin" - no_errors B3GNTL1 146712 broad.mit.edu 36 17 78599885 78599885 + Silent SNP T T C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 78599885 78599885 T C SNP B3GNTL1 NM_001009905 human genbank 54_36p -1 validated silent c.126 p.Q42 0.73 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" - no_errors USP14 9097 broad.mit.edu 36 18 188094 188094 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 188094 188094 T G SNP USP14 NM_005151 human genbank 54_36p 1 reviewed missense c.723 p.S241R 1 "superfamily_SSF54001,HMMPfam_UCH" "HMMSmart_UBQ,superfamily_SSF54236,PatternScan_UBIQUITIN_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors THOC1 9984 broad.mit.edu 36 18 213447 213447 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 213447 213447 C G SNP THOC1 NM_005131 human genbank 54_36p -1 validated missense c.1363 p.E455Q 1 NULL "superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors COLEC12 81035 broad.mit.edu 36 18 324971 324972 + Frame_Shift_Ins INS - G - novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 18 324971 324972 - G INS COLEC12 NM_130386 human genbank 54_36p -1 validated frame_shift_ins c.1587_1586 p.P532fs 0.880:0.925 HMMPfam_Collagen "HMMPfam_Collagen,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors CETN1 1068 broad.mit.edu 36 18 570898 570898 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 570898 570898 C T SNP CETN1 NM_004066 human genbank 54_36p 1 reviewed missense c.490 p.R164W 0.93 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,PatternScan_DEAD_ATP_HELICASE" - no_errors CLUL1 27098 broad.mit.edu 36 18 635002 635002 + Silent SNP C C G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 635002 635002 C G SNP CLUL1 NM_014410 human genbank 54_36p 1 validated silent c.1302 p.L434 0.24 "HMMPfam_Clusterin,HMMSmart_CLa" "HMMPfam_Clusterin,HMMSmart_CLb,HMMSmart_CLa" - no_errors ENOSF1 55556 broad.mit.edu 36 18 678606 678606 + Silent SNP G G C novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 678606 678606 G C SNP ENOSF1 NM_017512 human genbank 54_36p -1 validated silent c.621 p.L207 1 "superfamily_Enolase C-terminal domain-like,HMMPfam_MR_MLE" "superfamily_Enolase N-terminal domain-like,HMMPfam_MR_MLE_N,superfamily_Enolase C-terminal domain-like,HMMPfam_MR_MLE,PatternScan_MR_MLE_2" - no_errors NDC80 10403 broad.mit.edu 36 18 2598740 2598740 + Silent SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 18 2598740 2598740 G A SNP NDC80 NM_006101 human genbank 54_36p 1 validated silent c.1599 p.E533 1 NULL HMMPfam_Ndc80_HEC - no_errors SMCHD1 23347 broad.mit.edu 36 18 2687985 2687985 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 2687985 2687985 C T SNP SMCHD1 NM_015295 human genbank 54_36p 1 validated missense c.1288 p.H430Y 1 NULL "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,superfamily_Smc hinge domain,HMMPfam_SMC_hinge" - no_errors EMILIN2 84034 broad.mit.edu 36 18 2880859 2880859 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 2880859 2880859 C A SNP EMILIN2 NM_032048 human genbank 54_36p 1 validated missense c.734 p.T245K 0.02 NULL "HMMPfam_EMI,superfamily_TNF_like,HMMPfam_C1q" - no_errors LPIN2 9663 broad.mit.edu 36 18 2941130 2941130 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 2941130 2941130 C G SNP LPIN2 NM_014646 human genbank 54_36p -1 reviewed missense c.513 p.Q171H 0 NULL "HMMPfam_Lipin_N,superfamily_SSF56784,HMMPfam_LNS2,HMMSmart_LNS2" - no_errors MYOM1 8736 broad.mit.edu 36 18 3116832 3116832 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 3116832 3116832 C T SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.2858 p.G953E 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set" - no_errors MYOM1 8736 broad.mit.edu 36 18 3205130 3205130 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 3205130 3205130 C A SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.92 p.R31L 1 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors TGIF1 7050 broad.mit.edu 36 18 3446474 3446474 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 3446474 3446474 G T SNP TGIF1 NM_170695 human genbank 54_36p 1 reviewed missense c.526 p.V176L 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors DLGAP1 9229 broad.mit.edu 36 18 3869507 3869507 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 3869507 3869507 G A SNP DLGAP1 NM_004746 human genbank 54_36p -1 provisional missense c.562 p.R188C 0.96 NULL HMMPfam_GKAP - no_errors DLGAP1 9229 broad.mit.edu 36 18 3869897 3869897 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 3869897 3869897 C T SNP DLGAP1 NM_004746 human genbank 54_36p -1 provisional missense c.172 p.V58M 1 NULL HMMPfam_GKAP - no_errors ZFP161 7541 broad.mit.edu 36 18 5281171 5281171 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 5281171 5281171 G A SNP ZFP161 NM_003409 human genbank 54_36p -1 validated missense c.1036 p.P346S 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors EPB41L3 23136 broad.mit.edu 36 18 5387143 5387143 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 5387143 5387143 T C SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.2755 p.T919A 0 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD" - no_errors EPB41L3 23136 broad.mit.edu 36 18 5396870 5396870 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 18 5396870 5396870 G A SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.2255 p.T752M 0.15 HMMPfam_SAB "HMMPfam_SAB,HMMPfam_4_1_CTD,HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like" - no_errors EPB41L3 23136 broad.mit.edu 36 18 5424019 5424019 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 5424019 5424019 T A SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.707 p.E236V 1 "HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295" "HMMPfam_SAB,HMMPfam_4_1_CTD,HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like" - no_errors LAMA1 284217 broad.mit.edu 36 18 6982560 6982560 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 6982560 6982560 T G SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.5168 p.K1723T 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I" ############################################################################################################################################################################################################################################################### - no_errors LAMA1 284217 broad.mit.edu 36 18 7003922 7003922 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 7003922 7003922 G A SNP LAMA1 NM_005559 human genbank 54_36p -1 validated silent c.3255 p.P1085 0.98 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors LAMA1 284217 broad.mit.edu 36 18 7023075 7023075 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 7023075 7023075 C A SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.2071 p.D691Y 1 "HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281" ############################################################################################################################################################################################################################################################### - no_errors KIAA0802 23255 broad.mit.edu 36 18 8809155 8809155 + Silent SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 8809155 8809155 G A SNP KIAA0802 NM_015210 human genbank 54_36p 1 predicted silent c.3054 p.S1018 0.62 NULL NULL - no_errors KIAA0802 23255 broad.mit.edu 36 18 8815314 8815314 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 8815314 8815314 C T SNP KIAA0802 NM_015210 human genbank 54_36p 1 predicted missense c.3806 p.S1269F 0.97 NULL NULL - no_errors ANKRD12 23253 broad.mit.edu 36 18 9198762 9198762 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 9198762 9198762 G A SNP ANKRD12 NM_015208 human genbank 54_36p 1 validated missense c.412 p.A138T 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors ANKRD12 23253 broad.mit.edu 36 18 9246624 9246624 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 9246624 9246624 T C SNP ANKRD12 NM_015208 human genbank 54_36p 1 validated missense c.3359 p.I1120T 1 superfamily_Ankyrin repeat "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors TWSG1 57045 broad.mit.edu 36 18 9386353 9386368 + Frame_Shift_Del DEL TCCCTTCTCTCTTCCG - TCCCTTCTCTCTTCCG novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D TCCCTTCTCTCTTCCG TCCCTTCTCTCTTCCG - - TCCCTTCTCTCTTCCG TCCCTTCTCTCTTCCG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 18 9386353 9386368 TCCCTTCTCTCTTCCG - DEL TWSG1 NM_020648 human genbank 54_36p 1 validated frame_shift_del c.299_314 p.I100fs 1.000:1.000:1.000:0.999:0.879:0.997:1.000:0.994:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000 HMMPfam_Tsg HMMPfam_Tsg "(deletion:cds_exon[9386278,9386544])" no_errors TXNDC2 84203 broad.mit.edu 36 18 9877220 9877220 + Silent SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 9877220 9877220 G A SNP TXNDC2 NM_001098529 human genbank 54_36p 1 validated silent c.744 p.Q248 0 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin" - no_errors SPIRE1 56907 broad.mit.edu 36 18 12454875 12454875 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 12454875 12454875 G A SNP SPIRE1 NM_020148 human genbank 54_36p -1 validated missense c.968 p.T323I 0.22 NULL superfamily_FYVE_PHD_ZnF - no_errors CEP192 55125 broad.mit.edu 36 18 13039205 13039205 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13039205 13039205 G T SNP CEP192 NM_032142 human genbank 54_36p 1 validated missense c.627 p.M209I 0 NULL NULL - no_errors CEP192 55125 broad.mit.edu 36 18 13046284 13046284 + Missense_Mutation SNP C C G rs73950982 Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13046284 13046284 C G SNP CEP192 NM_032142 human genbank 54_36p 1 validated missense c.1907 p.T636R 0 NULL NULL - no_errors CEP192 55125 broad.mit.edu 36 18 13049273 13049273 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13049273 13049273 G A SNP CEP192 NM_032142 human genbank 54_36p 1 validated missense c.2662 p.V888I 0.76 NULL NULL - no_errors CEP192 55125 broad.mit.edu 36 18 13104130 13104130 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13104130 13104130 G C SNP CEP192 NM_032142 human genbank 54_36p 1 validated missense c.5381 p.S1794T 0.98 NULL NULL - no_errors C18orf1 753 broad.mit.edu 36 18 13635397 13635397 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13635397 13635397 T G SNP C18orf1 NM_181481 human genbank 54_36p 1 validated missense c.662 p.I221S 1 NULL "superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors MC5R 4161 broad.mit.edu 36 18 13815845 13815845 + Missense_Mutation SNP A A C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 13815845 13815845 A C SNP MC5R NM_005913 human genbank 54_36p 1 provisional missense c.81 p.K27N 0.45 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MC5R 4161 broad.mit.edu 36 18 13816276 13816276 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13816276 13816276 C T SNP MC5R NM_005913 human genbank 54_36p 1 provisional missense c.512 p.T171M 0.97 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MC5R 4161 broad.mit.edu 36 18 13816571 13816571 + Silent SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13816571 13816571 C T SNP MC5R NM_005913 human genbank 54_36p 1 provisional silent c.807 p.Y269 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MC2R 4158 broad.mit.edu 36 18 13874683 13874683 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 13874683 13874683 G A SNP MC2R NM_000529 human genbank 54_36p -1 reviewed missense c.835 p.R279W 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MC2R 4158 broad.mit.edu 36 18 13875322 13875322 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 13875322 13875322 A T SNP MC2R NM_000529 human genbank 54_36p -1 reviewed missense c.196 p.L66M 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MIB1 57534 broad.mit.edu 36 18 17575693 17575693 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 17575693 17575693 G C SNP MIB1 NM_020774 human genbank 54_36p 1 validated missense c.151 p.V51L 1 HMMPfam_MIB_HERC2 "PatternScan_ZF_RING_1,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors MIB1 57534 broad.mit.edu 36 18 17607581 17607587 + Splice_Site DEL AGGTAAC - AGGTAAC novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W AGGTAAC AGGTAAC - - AGGTAAC AGGTAAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 18 17607581 17607587 AGGTAAC - DEL MIB1 NM_020774 human genbank 54_36p 1 validated splice_site_del c.532-2_532-1 e4-1 0.998:1.000:1.000:1.000:1.000:1.000:1.000 - - "(deletion:intron[17602712,17607582], cds_exon[17607583,17607687])" no_errors MIB1 57534 broad.mit.edu 36 18 17649662 17649662 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 17649662 17649662 T G SNP MIB1 NM_020774 human genbank 54_36p 1 validated missense c.1567 p.L523V 0.99 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMSmart_RING,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_MIB_HERC2,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors CTAGE1 64693 broad.mit.edu 36 18 18251045 18251045 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 18251045 18251045 T C SNP CTAGE1 NM_172241 human genbank 54_36p -1 validated missense c.728 p.K243R 0.57 NULL NULL - no_errors RBBP8 5932 broad.mit.edu 36 18 18831639 18831639 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 18 18831639 18831639 G A SNP RBBP8 NM_002894 human genbank 54_36p 1 reviewed missense c.2087 p.S696N 1 NULL "HMMPfam_CtIP_N,HMMPfam_SAE2" - no_errors RBBP8 5932 broad.mit.edu 36 18 18856129 18856129 + Silent SNP T T C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 18856129 18856129 T C SNP RBBP8 NM_002894 human genbank 54_36p 1 reviewed silent c.2494 p.L832 1 HMMPfam_SAE2 "HMMPfam_SAE2,HMMPfam_CtIP_N" - no_errors C18orf45 85019 broad.mit.edu 36 18 19132002 19132002 + Silent SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 19132002 19132002 G T SNP C18orf45 NM_032933 human genbank 54_36p -1 validated silent c.858 p.A286 1 superfamily_Multidrug resistance efflux transporter EmrE superfamily_Multidrug resistance efflux transporter EmrE - no_errors RIOK3 8780 broad.mit.edu 36 18 19298580 19298580 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 18 19298580 19298580 G C SNP RIOK3 NM_003831 human genbank 54_36p 1 reviewed missense c.533 p.R178T 1 NULL "HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1,PatternScan_RIO1" - no_errors ANKRD29 147463 broad.mit.edu 36 18 19472839 19472839 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 19472839 19472839 A C SNP ANKRD29 NM_173505 human genbank 54_36p -1 validated missense c.302 p.F101C 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank" - no_errors ANKRD29 147463 broad.mit.edu 36 18 19483072 19483072 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 19483072 19483072 G A SNP ANKRD29 NM_173505 human genbank 54_36p -1 validated silent c.105 p.G35 0.61 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors LAMA3 3909 broad.mit.edu 36 18 19583423 19583423 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 19583423 19583423 G A SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.599 p.R200Q 1 "HMMSmart_SM00136,HMMPfam_Laminin_N" ############################################################################################################################################################################################################################################################### - no_errors LAMA3 3909 broad.mit.edu 36 18 19656271 19656271 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 19656271 19656271 A C SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.2362 p.I788L 0.88 NULL ############################################################################################################################################################################################################################################################### - no_errors LAMA3 3909 broad.mit.edu 36 18 19673834 19673834 + Silent SNP C C G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 19673834 19673834 C G SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed silent c.3279 p.P1093 0 NULL ############################################################################################################################################################################################################################################################### - no_errors LAMA3 3909 broad.mit.edu 36 18 19692763 19692763 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 19692763 19692763 G A SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.4394 p.C1465Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors LAMA3 3909 broad.mit.edu 36 18 19739528 19739528 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 18 19739528 19739528 T A SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.6660 p.S2220R 0.96 NULL ############################################################################################################################################################################################################################################################### - no_errors OSBPL1A 114876 broad.mit.edu 36 18 20000584 20000584 + Silent SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 20000584 20000584 G A SNP OSBPL1A NM_080597 human genbank 54_36p -1 reviewed silent c.2616 p.C872 1 HMMPfam_Oxysterol_BP "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors OSBPL1A 114876 broad.mit.edu 36 18 20012090 20012090 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 20012090 20012090 C T SNP OSBPL1A NM_080597 human genbank 54_36p -1 reviewed missense c.1978 p.A660T 1 HMMPfam_Oxysterol_BP "HMMPfam_Oxysterol_BP,HMMSmart_SM00233,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,PatternScan_OSBP,superfamily_PH domain-like" - no_errors ZNF521 25925 broad.mit.edu 36 18 21058913 21058913 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 21058913 21058913 G T SNP ZNF521 NM_015461 human genbank 54_36p -1 validated missense c.2967 p.N989K 1 HMMSmart_SM00355 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF521 25925 broad.mit.edu 36 18 21058980 21058980 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 21058980 21058980 C T SNP ZNF521 NM_015461 human genbank 54_36p -1 validated missense c.2900 p.R967Q 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF521 25925 broad.mit.edu 36 18 21059632 21059632 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 21059632 21059632 T C SNP ZNF521 NM_015461 human genbank 54_36p -1 validated missense c.2248 p.K750E 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF521 25925 broad.mit.edu 36 18 21059702 21059702 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 21059702 21059702 G A SNP ZNF521 NM_015461 human genbank 54_36p -1 validated silent c.2178 p.L726 0.97 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CDH2 1000 broad.mit.edu 36 18 23819523 23819523 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 23819523 23819523 T C SNP CDH2 NM_001792 human genbank 54_36p -1 reviewed missense c.1942 p.I648V 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH2 1000 broad.mit.edu 36 18 23839844 23839844 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 23839844 23839844 A T SNP CDH2 NM_001792 human genbank 54_36p -1 reviewed missense c.814 p.W272R 1 "HMMPfam_Cadherin,superfamily_Cadherin-like" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin-like" - no_errors DSC1 1823 broad.mit.edu 36 18 26968040 26968040 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 26968040 26968040 G A SNP DSC1 NM_024421 human genbank 54_36p -1 reviewed missense c.1928 p.S643F 0 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "HMMPfam_Cadherin_pro,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DSC1 1823 broad.mit.edu 36 18 26988799 26988799 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 26988799 26988799 T C SNP DSC1 NM_024421 human genbank 54_36p -1 reviewed missense c.563 p.E188G 0.99 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin-like" - no_errors DSG1 1828 broad.mit.edu 36 18 27177479 27177479 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 27177479 27177479 G T SNP DSG1 NM_001942 human genbank 54_36p 1 reviewed missense c.1756 p.V586F 1 NULL "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C,PatternScan_PHOSPHOPANTETHEINE" - no_errors DSG4 147409 broad.mit.edu 36 18 27222370 27222370 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27222370 27222370 A T SNP DSG4 NM_177986 human genbank 54_36p 1 validated missense c.259 p.I87F 0.84 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1" - no_errors DSG4 147409 broad.mit.edu 36 18 27225093 27225093 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 27225093 27225093 G A SNP DSG4 NM_177986 human genbank 54_36p 1 validated missense c.739 p.D247N 0.91 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors DSG3 1830 broad.mit.edu 36 18 27293046 27293046 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 27293046 27293046 T C SNP DSG3 NM_001944 human genbank 54_36p 1 reviewed missense c.425 p.I142T 0.41 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin,PatternScan_CADHERIN_1" - no_errors DSG3 1830 broad.mit.edu 36 18 27300615 27300615 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27300615 27300615 C T SNP DSG3 NM_001944 human genbank 54_36p 1 reviewed silent c.1536 p.S512 0 superfamily_Cadherin "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors DSG3 1830 broad.mit.edu 36 18 27309913 27309913 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27309913 27309913 T G SNP DSG3 NM_001944 human genbank 54_36p 1 reviewed missense c.2692 p.C898G 0.01 NULL "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin" - no_errors DSG2 1829 broad.mit.edu 36 18 27375185 27375185 + Silent SNP C C T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27375185 27375185 C T SNP DSG2 NM_001943 human genbank 54_36p 1 reviewed silent c.1911 p.C637 0.96 NULL "superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1" - no_errors TRAPPC8 22878 broad.mit.edu 36 18 27666044 27666044 + Splice_Site SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27666044 27666044 C T SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated splice_site c.4073+1 e28+1 1 - - - no_errors TRAPPC8 22878 broad.mit.edu 36 18 27673300 27673300 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27673300 27673300 G A SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated missense c.3956 p.S1319L 1 NULL superfamily_TPR-like - no_errors TRAPPC8 22878 broad.mit.edu 36 18 27686579 27686579 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27686579 27686579 G C SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated missense c.3479 p.A1160G 1 NULL superfamily_TPR-like - no_errors TRAPPC8 22878 broad.mit.edu 36 18 27689653 27689653 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27689653 27689653 G C SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated missense c.3304 p.L1102V 1 NULL superfamily_TPR-like - no_errors TRAPPC8 22878 broad.mit.edu 36 18 27747391 27747391 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 27747391 27747391 G A SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated missense c.710 p.S237L 1 NULL superfamily_TPR-like - no_errors MEP1B 4225 broad.mit.edu 36 18 28041333 28041333 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 28041333 28041333 C T SNP MEP1B NM_005925 human genbank 54_36p 1 validated missense c.668 p.T223I 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Astacin" "superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors KLHL14 57565 broad.mit.edu 36 18 28511206 28511206 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 28511206 28511206 C A SNP KLHL14 NM_020805 human genbank 54_36p -1 provisional missense c.1674 p.E558D 0.99 "superfamily_Gal_oxid_central,HMMSmart_Kelch" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors KLHL14 57565 broad.mit.edu 36 18 28514445 28514445 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 28514445 28514445 G A SNP KLHL14 NM_020805 human genbank 54_36p -1 provisional missense c.1354 p.R452C 1 "HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central" "HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB" - no_errors C18orf34 374864 broad.mit.edu 36 18 29049566 29049566 + Nonsense_Mutation SNP A A T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 29049566 29049566 A T SNP C18orf34 NM_001105528 human genbank 54_36p -1 validated nonsense c.2024 p.L675* 0 NULL NULL - no_errors C18orf34 374864 broad.mit.edu 36 18 29182907 29182907 + Missense_Mutation SNP T T G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 29182907 29182907 T G SNP C18orf34 NM_001105528 human genbank 54_36p -1 validated missense c.402 p.K134N 0 NULL NULL - no_errors ASXL3 80816 broad.mit.edu 36 18 29572453 29572453 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 29572453 29572453 G A SNP ASXL3 NM_030632 human genbank 54_36p 1 validated missense c.1087 p.G363S 1 NULL NULL - no_errors ASXL3 80816 broad.mit.edu 36 18 29576967 29576967 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 29576967 29576967 A T SNP ASXL3 NM_030632 human genbank 54_36p 1 validated missense c.3157 p.T1053S 1 NULL NULL - no_errors NOL4 8715 broad.mit.edu 36 18 29777135 29777135 + Silent SNP T T C novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 29777135 29777135 T C SNP NOL4 NM_003787 human genbank 54_36p -1 validated silent c.1434 p.R478 1 NULL NULL - no_errors DTNA 1837 broad.mit.edu 36 18 30652186 30652186 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 30652186 30652186 G T SNP DTNA NM_001390 human genbank 54_36p 1 reviewed missense c.770 p.R257L 1 "HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" "superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors GALNT1 2589 broad.mit.edu 36 18 31488699 31488699 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 31488699 31488699 G A SNP GALNT1 NM_020474 human genbank 54_36p 1 reviewed silent c.75 p.L25 1 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors GALNT1 2589 broad.mit.edu 36 18 31497589 31497589 + Splice_Site SNP G G C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 31497589 31497589 G C SNP GALNT1 NM_020474 human genbank 54_36p 1 reviewed splice_site c.140-1 e2-1 1 - - - no_errors RPRD1A 55197 broad.mit.edu 36 18 31860957 31860957 + Silent SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 31860957 31860957 C T SNP RPRD1A NM_018170 human genbank 54_36p -1 provisional silent c.693 p.A231 0.98 NULL "superfamily_ENTH/VHS domain,HMMSmart_SM00582,HMMPfam_DUF618" - no_errors FHOD3 80206 broad.mit.edu 36 18 32552396 32552396 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 32552396 32552396 C G SNP FHOD3 NM_025135 human genbank 54_36p 1 validated missense c.2612 p.P871R 1 superfamily_FH2_actin_bd "superfamily_ARM-type_fold,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2" - no_errors FHOD3 80206 broad.mit.edu 36 18 32578131 32578131 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 32578131 32578131 G A SNP FHOD3 NM_025135 human genbank 54_36p 1 validated missense c.3493 p.G1165R 1 "HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd" "HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd,superfamily_ARM-type_fold" - no_errors FHOD3 80206 broad.mit.edu 36 18 32594639 32594639 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 32594639 32594639 C T SNP FHOD3 NM_025135 human genbank 54_36p 1 validated missense c.3971 p.A1324V 0.98 HMMSmart_FH2 "HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd,superfamily_ARM-type_fold" - no_errors CELF4 56853 broad.mit.edu 36 18 33107003 33107003 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 33107003 33107003 G A SNP BRUNOL4 NM_020180 human genbank 54_36p -1 reviewed missense c.923 p.A308V 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors KIAA1632 57724 broad.mit.edu 36 18 41692528 41692528 + Splice_Site SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 41692528 41692528 C A SNP KIAA1632 NM_020964 human genbank 54_36p -1 validated splice_site c.7226+1 e41+1 1 - - - no_errors ST8SIA5 29906 broad.mit.edu 36 18 42522804 42522804 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 18 42522804 42522804 G T SNP ST8SIA5 NM_013305 human genbank 54_36p -1 reviewed missense c.388 p.L130I 1 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors KIAA0427 9811 broad.mit.edu 36 18 44639822 44639822 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 18 44639822 44639822 G A SNP KIAA0427 NM_014772 human genbank 54_36p 1 validated missense c.1691 p.R564Q 1 "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" "superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543" - no_errors SMAD7 4092 broad.mit.edu 36 18 44730313 44730313 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 44730313 44730313 G T SNP SMAD7 NM_005904 human genbank 54_36p -1 provisional nonsense c.480 p.C160* 1 "superfamily_MAD_MH1,HMMSmart_DWA,HMMPfam_MH1" "superfamily_MAD_MH1,HMMSmart_DWA,HMMPfam_MH1,superfamily_SMAD_FHA,HMMPfam_MH2,HMMSmart_DWB" - no_errors LIPG 9388 broad.mit.edu 36 18 45345834 45345834 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 45345834 45345834 G A SNP LIPG NM_006033 human genbank 54_36p 1 reviewed missense c.247 p.A83T 1 "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase" "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors MYO5B 4645 broad.mit.edu 36 18 45686875 45686875 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 45686875 45686875 G A SNP MYO5B NM_001080467 human genbank 54_36p -1 provisional missense c.2326 p.R776W 1 "HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO5B 4645 broad.mit.edu 36 18 45717663 45717663 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 45717663 45717663 G T SNP MYO5B NM_001080467 human genbank 54_36p -1 provisional missense c.1855 p.P619T 0.92 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DCC 1630 broad.mit.edu 36 18 49086015 49086015 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 49086015 49086015 C T SNP DCC NM_005215 human genbank 54_36p 1 validated nonsense c.1981 p.R661* 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C" - no_errors POLI 11201 broad.mit.edu 36 18 50063294 50063294 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 50063294 50063294 A G SNP POLI NM_007195 human genbank 54_36p 1 validated missense c.886 p.K296E 1 "superfamily_DNA/RNA polymerases,HMMPfam_IMS" "superfamily_DNA/RNA polymerases,HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain" - no_errors WDR7 23335 broad.mit.edu 36 18 52509591 52509591 + Splice_Site SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 52509591 52509591 G A SNP WDR7 NM_015285 human genbank 54_36p 1 reviewed splice_site c.863+1 e7+1 1 - - - no_errors WDR7 23335 broad.mit.edu 36 18 52514569 52514569 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 52514569 52514569 A C SNP WDR7 NM_015285 human genbank 54_36p 1 reviewed missense c.1456 p.I486L 1 "superfamily_Prolyl oligopeptidase N-terminal domain,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" "HMMSmart_SM00320,HMMPfam_WD40,superfamily_Prolyl oligopeptidase N-terminal domain,PatternScan_WD_REPEATS_1,superfamily_WD40 repeat-like" - no_errors ONECUT2 9480 broad.mit.edu 36 18 53294727 53294727 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 53294727 53294727 G A SNP ONECUT2 NM_004852 human genbank 54_36p 1 reviewed missense c.1289 p.R430H 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors ONECUT2 9480 broad.mit.edu 36 18 53294750 53294750 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 53294750 53294750 C T SNP ONECUT2 NM_004852 human genbank 54_36p 1 reviewed missense c.1312 p.R438C 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like" - no_errors ATP8B1 5205 broad.mit.edu 36 18 53479435 53479435 + Silent SNP T T C novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 53479435 53479435 T C SNP ATP8B1 NM_005603 human genbank 54_36p -1 reviewed silent c.2676 p.G892 1 "superfamily_SSF81665,superfamily_SSF56784" "superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660" - no_errors ATP8B1 5205 broad.mit.edu 36 18 53506591 53506591 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 53506591 53506591 G A SNP ATP8B1 NM_005603 human genbank 54_36p -1 reviewed missense c.1367 p.T456M 1 "PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81665" "HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665" - no_errors ALPK2 115701 broad.mit.edu 36 18 54354532 54354532 + Silent SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 54354532 54354532 G A SNP ALPK2 NM_052947 human genbank 54_36p -1 validated silent c.3867 p.A1289 0 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase" - no_errors ALPK2 115701 broad.mit.edu 36 18 54354971 54354971 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 54354971 54354971 G C SNP ALPK2 NM_052947 human genbank 54_36p -1 validated missense c.3428 p.S1143C 0 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors MALT1 10892 broad.mit.edu 36 18 54541318 54541318 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 54541318 54541318 C T SNP MALT1 NM_006785 human genbank 54_36p 1 reviewed silent c.1077 p.L359 0.96 "superfamily_Caspase-like,HMMPfam_Peptidase_C14" "superfamily_DEATH domain,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Caspase-like,HMMPfam_Peptidase_C14" - no_errors MALT1 10892 broad.mit.edu 36 18 54565850 54565850 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 54565850 54565850 C T SNP MALT1 NM_006785 human genbank 54_36p 1 reviewed silent c.2271 p.F757 0.04 NULL "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_Peptidase_C14,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_Caspase-like" - no_errors CPLX4 339302 broad.mit.edu 36 18 55130981 55130981 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 55130981 55130981 C A SNP CPLX4 NM_181654 human genbank 54_36p -1 reviewed missense c.171 p.M57I 1 NULL NULL - no_errors LMAN1 3998 broad.mit.edu 36 18 55177244 55177244 + Silent SNP C C A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 55177244 55177244 C A SNP LMAN1 NM_005570 human genbank 54_36p -1 reviewed silent c.213 p.G71 1 "superfamily_ConA_like_lec_gl,HMMPfam_Lectin_leg-like" "superfamily_ConA_like_lec_gl,HMMPfam_Lectin_leg-like" - no_errors CCBE1 147372 broad.mit.edu 36 18 55258017 55258017 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 55258017 55258017 G T SNP CCBE1 NM_133459 human genbank 54_36p -1 provisional missense c.787 p.P263T 1 HMMPfam_Collagen "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_Collagen" - no_errors MC4R 4160 broad.mit.edu 36 18 56190554 56190554 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 56190554 56190554 G T SNP MC4R NM_005912 human genbank 54_36p -1 validated missense c.9 p.N3K 0.97 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CDH20 28316 broad.mit.edu 36 18 57308945 57308945 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 18 57308945 57308945 G C SNP CDH20 NM_031891 human genbank 54_36p 1 reviewed missense c.179 p.S60T 1 superfamily_Cadherin "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors KIAA1468 57614 broad.mit.edu 36 18 58045615 58045615 + Silent SNP G G T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 58045615 58045615 G T SNP KIAA1468 NM_020854 human genbank 54_36p 1 validated silent c.972 p.V324 1 NULL "HMMSmart_SM00667,superfamily_ARM repeat,HMMPfam_HEAT" - no_errors SERPINB5 5268 broad.mit.edu 36 18 59321726 59321726 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 59321726 59321726 A T SNP SERPINB5 NM_002639 human genbank 54_36p 1 validated missense c.919 p.M307L 1 "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093" "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SERPINB13 5275 broad.mit.edu 36 18 59411136 59411136 + Silent SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 59411136 59411136 C T SNP SERPINB13 NM_012397 human genbank 54_36p 1 validated silent c.423 p.A141 1 "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093" "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors SERPINB4 6318 broad.mit.edu 36 18 59460015 59460015 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 59460015 59460015 C T SNP SERPINB4 NM_002974 human genbank 54_36p -1 validated missense c.310 p.A104T 0.85 "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN" "HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors SERPINB4 6318 broad.mit.edu 36 18 59461637 59461637 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 59461637 59461637 T G SNP SERPINB4 NM_002974 human genbank 54_36p -1 validated missense c.155 p.Q52P 0.25 "HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin" "HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin" - no_errors SERPINB3 6317 broad.mit.edu 36 18 59477628 59477628 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 59477628 59477628 C T SNP SERPINB3 NM_006919 human genbank 54_36p -1 validated silent c.336 p.T112 0 "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093" "HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors CDH7 1005 broad.mit.edu 36 18 61677924 61677924 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 61677924 61677924 G T SNP CDH7 NM_004361 human genbank 54_36p 1 reviewed missense c.1495 p.V499F 1 "superfamily_Cadherin-like,HMMPfam_Cadherin" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors DSEL 92126 broad.mit.edu 36 18 63329428 63329428 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 63329428 63329428 A T SNP DSEL NM_032160 human genbank 54_36p -1 validated missense c.3428 p.F1143Y 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors DSEL 92126 broad.mit.edu 36 18 63332719 63332719 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 63332719 63332719 G A SNP DSEL NM_032160 human genbank 54_36p -1 validated missense c.137 p.T46I 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors RTTN 25914 broad.mit.edu 36 18 65835628 65835628 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 65835628 65835628 G C SNP RTTN NM_173630 human genbank 54_36p -1 validated missense c.6416 p.A2139G 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors RTTN 25914 broad.mit.edu 36 18 65910378 65910378 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 65910378 65910378 G C SNP RTTN NM_173630 human genbank 54_36p -1 validated missense c.4091 p.T1364S 0.29 NULL superfamily_ARM repeat - no_errors SOCS6 9306 broad.mit.edu 36 18 66143303 66143303 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 18 66143303 66143303 G A SNP SOCS6 NM_004232 human genbank 54_36p 1 reviewed missense c.419 p.R140Q 1 NULL "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,HMMSmart_SOCS,HMMPfam_SOCS_box" - no_errors NETO1 81832 broad.mit.edu 36 18 68602040 68602040 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 18 68602040 68602040 T A SNP NETO1 NM_138966 human genbank 54_36p -1 reviewed missense c.721 p.S241C 1 "superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors NETO1 81832 broad.mit.edu 36 18 68677194 68677194 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 18 68677194 68677194 C A SNP NETO1 NM_138966 human genbank 54_36p -1 reviewed nonsense c.316 p.G106* 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module" - no_errors FBXO15 201456 broad.mit.edu 36 18 69891772 69891772 + Silent SNP C C A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 69891772 69891772 C A SNP FBXO15 NM_152676 human genbank 54_36p -1 reviewed silent c.1209 p.L403 1 NULL "HMMSmart_FBOX,HMMPfam_F-box,superfamily_SSF81383" - no_errors FBXO15 201456 broad.mit.edu 36 18 69944263 69944263 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 69944263 69944263 G C SNP FBXO15 NM_152676 human genbank 54_36p -1 reviewed missense c.611 p.S204C 0.01 NULL "HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383" - no_errors FAM69C 125704 broad.mit.edu 36 18 70254719 70254719 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 70254719 70254719 C A SNP C18orf51 NM_001044369 human genbank 54_36p -1 validated missense c.360 p.K120N 0.23 NULL NULL - no_errors CNDP2 55748 broad.mit.edu 36 18 70334551 70334551 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 70334551 70334551 G A SNP CNDP2 NM_018235 human genbank 54_36p 1 provisional missense c.1012 p.G338S 0.85 "superfamily_SSF53187,HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer" "PatternScan_ARGE_DAPE_CPG2_1,superfamily_SSF53187,HMMPfam_Peptidase_M20,PatternScan_ARGE_DAPE_CPG2_2,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer" - no_errors CNDP2 55748 broad.mit.edu 36 18 70338249 70338249 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 70338249 70338249 C T SNP CNDP2 NM_018235 human genbank 54_36p 1 provisional missense c.1394 p.A465V 1 "HMMPfam_Peptidase_M20,superfamily_SSF53187" "PatternScan_ARGE_DAPE_CPG2_1,PatternScan_ARGE_DAPE_CPG2_2,HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer,superfamily_SSF53187" - no_errors ZNF407 55628 broad.mit.edu 36 18 70475759 70475759 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 70475759 70475759 G A SNP ZNF407 NM_017757 human genbank 54_36p 1 provisional missense c.3796 p.V1266I 0 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00451,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors ZNF407 55628 broad.mit.edu 36 18 70904166 70904166 + Missense_Mutation SNP T T A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 70904166 70904166 T A SNP ZNF407 NM_017757 human genbank 54_36p 1 provisional missense c.5501 p.F1834Y 1 NULL "HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors TSHZ1 10194 broad.mit.edu 36 18 71127104 71127104 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 71127104 71127104 A T SNP TSHZ1 NM_005786 human genbank 54_36p 1 reviewed missense c.619 p.S207C 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors ZNF236 7776 broad.mit.edu 36 18 72692785 72692785 + Missense_Mutation SNP A A C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 72692785 72692785 A C SNP ZNF236 NM_007345 human genbank 54_36p 1 validated missense c.259 p.T87P 0.96 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF236 7776 broad.mit.edu 36 18 72751087 72751087 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 72751087 72751087 C G SNP ZNF236 NM_007345 human genbank 54_36p 1 validated missense c.2621 p.S874C 0.98 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF236 7776 broad.mit.edu 36 18 72766420 72766420 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 72766420 72766420 G A SNP ZNF236 NM_007345 human genbank 54_36p 1 validated missense c.3943 p.V1315I 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF236 7776 broad.mit.edu 36 18 72788516 72788516 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 72788516 72788516 G T SNP ZNF236 NM_007345 human genbank 54_36p 1 validated nonsense c.4828 p.G1610* 0.01 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF236 7776 broad.mit.edu 36 18 72801720 72801720 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 72801720 72801720 C A SNP ZNF236 NM_007345 human genbank 54_36p 1 validated nonsense c.5334 p.Y1778* 1 "HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors MBP 4155 broad.mit.edu 36 18 72858147 72858147 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 72858147 72858147 G A SNP MBP NM_001025101 human genbank 54_36p -1 reviewed missense c.205 p.R69C 1 NULL "HMMPfam_Myelin_MBP,PatternScan_MYELIN_MBP" - no_errors GALR1 2587 broad.mit.edu 36 18 73109662 73109662 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 18 73109662 73109662 A G SNP GALR1 NM_001480 human genbank 54_36p 1 reviewed missense c.866 p.H289R 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SALL3 27164 broad.mit.edu 36 18 74854204 74854204 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 74854204 74854204 C A SNP SALL3 NM_171999 human genbank 54_36p 1 validated missense c.1225 p.P409T 1 NULL "HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors ATP9B 374868 broad.mit.edu 36 18 74957468 74957468 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 74957468 74957468 C G SNP ATP9B NM_198531 human genbank 54_36p 1 validated missense c.124 p.Q42E 0.99 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors NFATC1 4772 broad.mit.edu 36 18 75312053 75312053 + Silent SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 75312053 75312053 C T SNP NFATC1 NM_172387 human genbank 54_36p 1 reviewed silent c.1662 p.H554 1 "superfamily_p53-like transcription factors,HMMPfam_RHD" "superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG" - no_errors CTDP1 9150 broad.mit.edu 36 18 75558969 75558970 + Missense_Mutation DNP CG CG GT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 CG CG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 75558969 75558970 CG GT DNP CTDP1 NM_004715 human genbank 54_36p 1 reviewed missense c.614_615 p.S205C 1.000:1.000 "superfamily_HAD-like,HMMPfam_NIF,HMMSmart_SM00577" "superfamily_HAD-like,HMMPfam_NIF,HMMSmart_SM00577,superfamily_BRCT domain,HMMSmart_SM00292,HMMPfam_BRCT,HMMPfam_FCP1_C" - no_errors PQLC1 80148 broad.mit.edu 36 18 75811712 75811712 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 75811712 75811712 C T SNP PQLC1 NM_025078 human genbank 54_36p -1 provisional nonsense c.203 p.W68* 1 HMMPfam_PQ-loop "HMMPfam_PQ-loop,HMMSmart_SM00679" - no_errors C18orf22 79863 broad.mit.edu 36 18 75899510 75899510 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 75899510 75899510 C A SNP C18orf22 NM_024805 human genbank 54_36p 1 predicted missense c.396 p.D132E 1 superfamily_Ribosome-binding factor A RbfA "superfamily_Ribosome-binding factor A RbfA,PatternScan_RBFA" - no_errors ADNP2 22850 broad.mit.edu 36 18 75996151 75996151 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 18 75996151 75996151 G T SNP ADNP2 NM_014913 human genbank 54_36p 1 validated missense c.1864 p.V622F 0.16 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00389" - no_errors ADNP2 22850 broad.mit.edu 36 18 75997592 75997592 + Missense_Mutation SNP T T C rs11553022 by-hapmap TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 75997592 75997592 T C SNP ADNP2 NM_014913 human genbank 54_36p 1 validated missense c.3305 p.I1102T 0.98 "HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMSmart_SM00389,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors THEG 51298 broad.mit.edu 36 19 313215 313215 + Silent SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 313215 313215 G A SNP THEG NM_016585 human genbank 54_36p -1 reviewed silent c.1125 p.P375 0 NULL HMMSmart_SM00705 - no_errors SHC2 25759 broad.mit.edu 36 19 376176 376176 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 376176 376176 C G SNP SHC2 NM_012435 human genbank 54_36p -1 validated missense c.759 p.E253D 1 NULL "superfamily_PH domain-like,HMMPfam_PID,HMMSmart_SM00462,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors PRTN3 5657 broad.mit.edu 36 19 794898 794898 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 794898 794898 A G SNP PRTN3 NM_002777 human genbank 54_36p 1 validated missense c.233 p.Q78R 0 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors KISS1R 84634 broad.mit.edu 36 19 871425 871425 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 871425 871425 G C SNP KISS1R NM_032551 human genbank 54_36p 1 reviewed missense c.874 p.G292R 0.07 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors ARID3A 1820 broad.mit.edu 36 19 919497 919497 + Missense_Mutation SNP T T G novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 919497 919497 T G SNP ARID3A NM_005224 human genbank 54_36p 1 reviewed missense c.1588 p.Y530D 1 NULL "superfamily_ARID,HMMPfam_ARID,HMMSmart_BRIGHT" - no_errors ABCA7 10347 broad.mit.edu 36 19 993357 993357 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 993357 993357 G A SNP ABCA7 NM_019112 human genbank 54_36p 1 reviewed missense c.459 p.M153I 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors HMHA1 23526 broad.mit.edu 36 19 1030997 1030997 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1030997 1030997 G C SNP HMHA1 NM_012292 human genbank 54_36p 1 validated missense c.1583 p.C528S 1 NULL "HMMSmart_FCH,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors NDUFS7 374291 broad.mit.edu 36 19 1341968 1341969 + Missense_Mutation DNP CT CT GG novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1341968 1341969 CT GG DNP NDUFS7 NM_024407 human genbank 54_36p 1 reviewed missense c.327_328 p.F110V 0.966:0.997 "superfamily_Nickel-iron hydrogenase small subunit,HMMPfam_Oxidored_q6" "superfamily_Nickel-iron hydrogenase small subunit,HMMPfam_Oxidored_q6,PatternScan_COMPLEX1_20K" - no_errors PCSK4 54760 broad.mit.edu 36 19 1439242 1439242 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1439242 1439242 A C SNP PCSK4 NM_017573 human genbank 54_36p -1 validated missense c.332 p.V111G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors REEP6 92840 broad.mit.edu 36 19 1447361 1447361 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1447361 1447361 G T SNP REEP6 ENST00000395484 human ensembl 54_36p 1 known missense c.628 p.A210S 0.2 NULL NULL - no_errors MBD3 53615 broad.mit.edu 36 19 1529479 1529479 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 1529479 1529479 C G SNP MBD3 NM_003926 human genbank 54_36p -1 reviewed missense c.736 p.D246H 1 NULL "HMMPfam_MBD,superfamily_DNA-binding domain,HMMSmart_SM00391" - no_errors ATP8B3 148229 broad.mit.edu 36 19 1740034 1740035 + Missense_Mutation DNP GA GA CC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1740034 1740035 GA CC DNP ATP8B3 NM_138813 human genbank 54_36p -1 reviewed missense c.2931_2930 p.F977W 0.990:0.952 superfamily_SSF56784 "superfamily_SSF81653,HMMPfam_E1-E2_ATPase,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3,PatternScan_EF_HAND_1" - no_errors FAM108A1 81926 broad.mit.edu 36 19 1828545 1828545 + Silent SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1828545 1828545 G A SNP FAM108A1 NM_031213 human genbank 54_36p -1 validated silent c.822 p.P274 1 "HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases" "PatternScan_TONB_DEPENDENT_REC_1,superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2" - no_errors FAM108A1 81926 broad.mit.edu 36 19 1831007 1831007 + Missense_Mutation SNP T T G rs7248295 Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 1831007 1831007 T G SNP FAM108A1 NM_031213 human genbank 54_36p -1 validated missense c.593 p.Y198S 1 "HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases" "HMMPfam_Abhydrolase_2,PatternScan_TONB_DEPENDENT_REC_1,superfamily_alpha/beta-Hydrolases" - no_errors DOT1L 84444 broad.mit.edu 36 19 2161819 2161821 + Missense_Mutation TNP AGA AGA CCG novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W AGA AGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 2161819 2161821 AGA CCG TNP DOT1L NM_032482 human genbank 54_36p 1 validated missense c.1316_1318 p.Q439PA 1.000:0.999:1.000 NULL "superfamily_SSF53335,HMMPfam_DOT1,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors TMPRSS9 360200 broad.mit.edu 36 19 2352990 2352990 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 2352990 2352990 T G SNP TMPRSS9 NM_182973 human genbank 54_36p 1 provisional missense c.430 p.L144V 0 NULL "HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors LMNB2 84823 broad.mit.edu 36 19 2383480 2383480 + Silent SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 2383480 2383480 C T SNP LMNB2 NM_032737 human genbank 54_36p -1 reviewed silent c.1464 p.L488 0.08 "superfamily_SSF74853,HMMPfam_IF_tail" "HMMPfam_Filament,PatternScan_IF,superfamily_SSF74853,HMMPfam_IF_tail" - no_errors DIRAS1 148252 broad.mit.edu 36 19 2668666 2668666 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 2668666 2668666 C T SNP DIRAS1 NM_145173 human genbank 54_36p -1 validated missense c.139 p.V47M 1 "superfamily_SSF52540,HMMSmart_RAS,HMMPfam_Ras" "superfamily_SSF52540,HMMSmart_RAS,HMMPfam_Ras" - no_errors ZNF57 126295 broad.mit.edu 36 19 2868849 2868849 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 2868849 2868849 T G SNP ZNF57 NM_173480 human genbank 54_36p 1 validated missense c.1230 p.H410Q 0.1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF77 58492 broad.mit.edu 36 19 2884602 2884602 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 2884602 2884602 C T SNP ZNF77 NM_021217 human genbank 54_36p -1 validated missense c.1523 p.R508H 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TLE2 7089 broad.mit.edu 36 19 2979803 2979804 + Splice_Site INS - G - novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 2979803 2979804 - G INS TLE2 NM_003260 human genbank 54_36p -1 validated splice_site_ins c.25-3_25-2 e2-2 1.000:0.942 - - - no_errors GNA11 2767 broad.mit.edu 36 19 3070021 3070021 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 3070021 3070021 C A SNP GNA11 NM_002067 human genbank 54_36p 1 validated nonsense c.705 p.Y235* 1 "superfamily_SSF52540,HMMPfam_G-alpha" "superfamily_SSF52540,HMMPfam_G-alpha,superfamily_Transducn_insert" - no_errors TBXA2R 6915 broad.mit.edu 36 19 3546862 3546863 + Missense_Mutation DNP TG TG CA novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 3546862 3546863 TG CA DNP TBXA2R NM_001060 human genbank 54_36p -1 validated missense c.856_855 p.T286A 0.012:0.007 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PIP5K1C 23396 broad.mit.edu 36 19 3596970 3596970 + Splice_Site SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 3596970 3596970 A G SNP PIP5K1C NM_012398 human genbank 54_36p -1 reviewed splice_site c.1345+2 e11+2 1 - - - no_errors TJP3 27134 broad.mit.edu 36 19 3686866 3686866 + Splice_Site SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 3686866 3686866 G T SNP TJP3 NM_014428 human genbank 54_36p 1 provisional splice_site c.1160-1 e9-1 0.11 - - - no_errors MRPL54 116541 broad.mit.edu 36 19 3713782 3713782 + Silent SNP A A T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 3713782 3713782 A T SNP MRPL54 NM_172251 human genbank 54_36p 1 reviewed silent c.84 p.G28 0 NULL HMMPfam_Ribosomal_L37 - no_errors MAP2K2 5605 broad.mit.edu 36 19 4068604 4068604 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4068604 4068604 T A SNP MAP2K2 NM_030662 human genbank 54_36p -1 reviewed missense c.116 p.K39M 1 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors SIRT6 51548 broad.mit.edu 36 19 4125893 4125893 + Silent SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4125893 4125893 G A SNP SIRT6 NM_016539 human genbank 54_36p -1 reviewed silent c.789 p.T263 0.93 superfamily_DHS-like NAD/FAD-binding domain "superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_SIR2" - no_errors ANKRD24 170961 broad.mit.edu 36 19 4151140 4151140 + Silent SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 4151140 4151140 C A SNP ANKRD24 NM_133475 human genbank 54_36p 1 provisional silent c.315 p.G105 0.81 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors EBI3 10148 broad.mit.edu 36 19 4180575 4180575 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4180575 4180575 G C SNP EBI3 NM_005755 human genbank 54_36p 1 reviewed missense c.28 p.V10L 0.05 NULL "superfamily_FN_III-like,HMMSmart_FN3,PatternScan_HEMATOPO_REC_L_F3,HMMPfam_fn3" - no_errors CCDC94 55702 broad.mit.edu 36 19 4202129 4202129 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4202129 4202129 C T SNP CCDC94 NM_018074 human genbank 54_36p 1 provisional silent c.231 p.Y77 1 HMMPfam_DUF572 HMMPfam_DUF572 - no_errors MPND 84954 broad.mit.edu 36 19 4306115 4306115 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4306115 4306115 T G SNP MPND NM_032868 human genbank 54_36p 1 provisional missense c.941 p.F314C 1 "superfamily_JAB1/MPN domain,HMMPfam_Mov34" "superfamily_JAB1/MPN domain,HMMPfam_Mov34" - no_errors CHAF1A 10036 broad.mit.edu 36 19 4379827 4379827 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 4379827 4379827 G A SNP CHAF1A NM_005483 human genbank 54_36p 1 validated missense c.1544 p.R515Q 0.9 NULL NULL - no_errors FEM1A 100133070 broad.mit.edu 36 19 4744804 4744804 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4744804 4744804 C G SNP LOC100133070 XM_001719147 human genbank 54_36p -1 model missense c.172 p.G58R 1 NULL NULL - no_errors TICAM1 148022 broad.mit.edu 36 19 4768712 4768712 + Silent SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 4768712 4768712 C T SNP TICAM1 NM_182919 human genbank 54_36p -1 validated silent c.678 p.G226 0.74 NULL NULL - no_errors PTPRS 5802 broad.mit.edu 36 19 5165445 5165445 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 5165445 5165445 C A SNP PTPRS NM_002850 human genbank 54_36p -1 reviewed missense c.4541 p.G1514V 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" ############################################################################################################################################################################################################################################################### - no_errors PTPRS 5802 broad.mit.edu 36 19 5216025 5216025 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 5216025 5216025 G A SNP PTPRS NM_002850 human genbank 54_36p -1 reviewed nonsense c.562 p.R188* 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors SAFB2 9667 broad.mit.edu 36 19 5567291 5567291 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 5567291 5567291 C T SNP SAFB2 NM_014649 human genbank 54_36p -1 validated missense c.395 p.S132N 1 NULL "superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors SAFB 6294 broad.mit.edu 36 19 5619291 5619291 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 5619291 5619291 C G SNP SAFB NM_002967 human genbank 54_36p 1 reviewed missense c.2737 p.R913G 1 NULL "superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors TMEM146 257062 broad.mit.edu 36 19 5723900 5723900 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 5723900 5723900 C G SNP TMEM146 NM_152784 human genbank 54_36p 1 validated missense c.1865 p.A622G 0 NULL NULL - no_errors RANBP3 8498 broad.mit.edu 36 19 5872277 5872277 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 5872277 5872277 C T SNP RANBP3 NM_007322 human genbank 54_36p -1 reviewed missense c.1265 p.G422D 1 "superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1" "superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1" - no_errors RANBP3 8498 broad.mit.edu 36 19 5884475 5884475 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 5884475 5884475 C A SNP RANBP3 NM_007322 human genbank 54_36p -1 reviewed missense c.422 p.G141V 1 NULL "HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like" - no_errors RFX2 5990 broad.mit.edu 36 19 5953737 5953737 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 5953737 5953737 C G SNP RFX2 NM_000635 human genbank 54_36p -1 reviewed missense c.1645 p.V549L 1 NULL "HMMPfam_RFX1_trans_act,HMMPfam_RFX_DNA_binding,superfamily_Winged helix DNA-binding domain" - no_errors ACSBG2 81616 broad.mit.edu 36 19 6133869 6133869 + Silent SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6133869 6133869 C T SNP ACSBG2 NM_030924 human genbank 54_36p 1 validated silent c.1014 p.S338 0 "superfamily_SSF56801,HMMPfam_AMP-binding" "superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors CLPP 8192 broad.mit.edu 36 19 6315626 6315626 + Silent SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 6315626 6315626 C T SNP CLPP NM_006012 human genbank 54_36p 1 reviewed silent c.531 p.I177 1 "superfamily_SSF52096,HMMPfam_CLP_protease,PatternScan_CLP_PROTEASE_HIS" "superfamily_SSF52096,HMMPfam_CLP_protease,PatternScan_CLP_PROTEASE_SER,PatternScan_CLP_PROTEASE_HIS" - no_errors PSPN 5623 broad.mit.edu 36 19 6326765 6326765 + Silent SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 6326765 6326765 G A SNP PSPN NM_004158 human genbank 54_36p -1 reviewed silent c.96 p.A32 0 NULL "PatternScan_TGF_BETA_1,HMMPfam_TGF_beta,superfamily_SSF57501,HMMSmart_TGFB" - no_errors SLC25A23 79085 broad.mit.edu 36 19 6405349 6405349 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6405349 6405349 G T SNP SLC25A23 NM_024103 human genbank 54_36p -1 validated missense c.780 p.F260L 1 "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" - no_errors SLC25A23 79085 broad.mit.edu 36 19 6407446 6407446 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 6407446 6407446 G C SNP SLC25A23 NM_024103 human genbank 54_36p -1 validated missense c.468 p.F156L 1 superfamily_EF-hand "superfamily_Mitochondrial carrier,HMMSmart_SM00054,HMMPfam_Mito_carr,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand" - no_errors DENND1C 79958 broad.mit.edu 36 19 6418577 6418577 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6418577 6418577 G A SNP DENND1C NM_024898 human genbank 54_36p -1 validated nonsense c.2344 p.Q782* 0 NULL "HMMPfam_uDENN,HMMSmart_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN" - no_errors DENND1C 79958 broad.mit.edu 36 19 6418619 6418619 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6418619 6418619 G A SNP DENND1C NM_024898 human genbank 54_36p -1 validated missense c.2302 p.P768S 0 NULL "HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_uDENN,HMMSmart_uDENN" - no_errors TUBB4 10382 broad.mit.edu 36 19 6446297 6446297 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6446297 6446297 C T SNP TUBB4 NM_006087 human genbank 54_36p -1 provisional missense c.1213 p.E405K 1 superfamily_Tubulin C-terminal domain-like "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBB4 10382 broad.mit.edu 36 19 6446339 6446339 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6446339 6446339 G A SNP TUBB4 NM_006087 human genbank 54_36p -1 provisional missense c.1171 p.R391C 1 superfamily_Tubulin C-terminal domain-like "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN_B_AUTOREG,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TNFSF9 8744 broad.mit.edu 36 19 6485682 6485682 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 6485682 6485682 C G SNP TNFSF9 NM_003811 human genbank 54_36p 1 reviewed missense c.370 p.L124V 0 "superfamily_TNF_like,HMMSmart_TNF,HMMPfam_TNF" "superfamily_TNF_like,HMMSmart_TNF,HMMPfam_TNF,PatternScan_TNF_1" - no_errors TNFSF14 8740 broad.mit.edu 36 19 6616098 6616098 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 6616098 6616098 C T SNP TNFSF14 NM_003807 human genbank 54_36p -1 reviewed missense c.562 p.G188R 0 "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF" "superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF" - no_errors TRIP10 9322 broad.mit.edu 36 19 6695700 6695700 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6695700 6695700 G A SNP TRIP10 NM_004240 human genbank 54_36p 1 validated missense c.778 p.D260N 1 NULL "HMMPfam_FCH,HMMSmart_SM00055,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors EMR1 2015 broad.mit.edu 36 19 6888605 6888605 + Silent SNP C C A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 6888605 6888605 C A SNP EMR1 NM_001974 human genbank 54_36p 1 reviewed silent c.2601 p.S867 0 superfamily_Family A G protein-coupled receptor-like ############################################################################################################################################################################################################################################################### - no_errors INSR 3643 broad.mit.edu 36 19 7068323 7068323 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 7068323 7068323 A G SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.3893 p.F1298S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors INSR 3643 broad.mit.edu 36 19 7073978 7073978 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 7073978 7073978 G T SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.3281 p.S1094Y 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors INSR 3643 broad.mit.edu 36 19 7076412 7076412 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7076412 7076412 T A SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.3140 p.K1047M 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" ############################################################################################################################################################################################################################################################### - no_errors INSR 3643 broad.mit.edu 36 19 7094008 7094008 + Silent SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7094008 7094008 G A SNP INSR NM_000208 human genbank 54_36p -1 reviewed silent c.2361 p.S787 0.61 "HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors INSR 3643 broad.mit.edu 36 19 7103753 7103753 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 19 7103753 7103753 C G SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.2215 p.V739L 1 "HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors INSR 3643 broad.mit.edu 36 19 7218483 7218483 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7218483 7218483 G T SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.525 p.N175K 1 superfamily_L domain-like ############################################################################################################################################################################################################################################################### - no_errors ARHGEF18 23370 broad.mit.edu 36 19 7412889 7412889 + Silent SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 7412889 7412889 C T SNP ARHGEF18 NM_015318 human genbank 54_36p 1 reviewed silent c.273 p.Y91 0 superfamily_DH-domain "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH" - no_errors PEX11G 92960 broad.mit.edu 36 19 7456868 7456868 + Silent SNP C C G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 7456868 7456868 C G SNP PEX11G NM_080662 human genbank 54_36p -1 provisional silent c.105 p.L35 0.83 HMMPfam_PEX11 HMMPfam_PEX11 - no_errors PNPLA6 10908 broad.mit.edu 36 19 7527564 7527564 + Silent SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7527564 7527564 C T SNP PNPLA6 NM_006702 human genbank 54_36p 1 validated silent c.3120 p.N1040 0.99 "superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_Patatin" "superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_Patatin,PatternScan_UPF0028" - no_errors RETN 56729 broad.mit.edu 36 19 7640747 7640747 + Silent SNP C C T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7640747 7640747 C T SNP RETN NM_020415 human genbank 54_36p 1 reviewed silent c.159 p.S53 0 "HMMPfam_Resistin,superfamily_Resistin" "HMMPfam_Resistin,superfamily_Resistin" - no_errors CD209 30835 broad.mit.edu 36 19 7713996 7713996 + Missense_Mutation SNP C C T rs11465393 "by-frequency,by-hapmap" TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 7713996 7713996 C T SNP CD209 NM_021155 human genbank 54_36p -1 reviewed missense c.1144 p.A382T 0 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors EVI5L 115704 broad.mit.edu 36 19 7818660 7818660 + Silent SNP C C T novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7818660 7818660 C T SNP EVI5L NM_145245 human genbank 54_36p 1 provisional silent c.180 p.G60 0.98 NULL "superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC" - no_errors CTXN1 404217 broad.mit.edu 36 19 7896283 7896283 + Silent SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7896283 7896283 C G SNP CTXN1 NM_206833 human genbank 54_36p -1 validated silent c.141 p.V47 1 NULL NULL - no_errors TIMM44 10469 broad.mit.edu 36 19 7898971 7898971 + Silent SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 7898971 7898971 G A SNP TIMM44 NM_006351 human genbank 54_36p -1 provisional silent c.1119 p.D373 1 HMMPfam_Tim44 HMMPfam_Tim44 - no_errors TIMM44 10469 broad.mit.edu 36 19 7903585 7903585 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 7903585 7903585 C T SNP TIMM44 NM_006351 human genbank 54_36p -1 provisional missense c.914 p.R305Q 1 HMMPfam_Tim44 HMMPfam_Tim44 - no_errors FBN3 84467 broad.mit.edu 36 19 8044141 8044141 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8044141 8044141 G T SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed missense c.7743 p.S2581R 0.79 "PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181" "HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain" - no_errors FBN3 84467 broad.mit.edu 36 19 8051997 8051997 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8051997 8051997 T C SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed missense c.7343 p.D2448G 1 "HMMSmart_SM00179,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA" "PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors LASS4 79603 broad.mit.edu 36 19 8221966 8221966 + Silent SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8221966 8221966 G A SNP LASS4 NM_024552 human genbank 54_36p 1 validated silent c.6 p.L2 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" - no_errors NDUFA7 4701 broad.mit.edu 36 19 8287481 8287482 + Missense_Mutation DNP GG GG AA novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8287481 8287482 GG AA DNP NDUFA7 NM_005001 human genbank 54_36p -1 validated missense c.150_149 p.S50F 0.997:1.000 HMMPfam_CI-B14_5a HMMPfam_CI-B14_5a - no_errors ANGPTL4 51129 broad.mit.edu 36 19 8342379 8342379 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8342379 8342379 G T SNP ANGPTL4 NM_139314 human genbank 54_36p 1 reviewed missense c.1012 p.D338Y 0.6 "superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG,HMMPfam_Fibrinogen_C" "superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors RAB11B 9230 broad.mit.edu 36 19 8373134 8373134 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8373134 8373134 T C SNP RAB11B NM_004218 human genbank 54_36p 1 validated missense c.401 p.V134A 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors MARCH2 51257 broad.mit.edu 36 19 8409305 8409305 + Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8409305 8409305 G T SNP MARCH2 NM_001005415 human genbank 54_36p 1 validated nonsense c.616 p.E206* 1 NULL "superfamily_SSF57850,HMMSmart_RINGv,HMMPfam_zf-C3HC4" - no_errors HNRNPM 4670 broad.mit.edu 36 19 8456730 8456731 + Missense_Mutation DNP GC GC TT novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8456730 8456731 GC TT DNP HNRNPM NM_005968 human genbank 54_36p 1 validated missense c.1418_1419 p.G473V 1.000:1.000 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors MUC16 94025 broad.mit.edu 36 19 8838643 8838643 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 8838643 8838643 T C SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.42202 p.T14068A 0.99 superfamily_SEA domain "PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" - no_errors MUC16 94025 broad.mit.edu 36 19 8872463 8872463 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 19 8872463 8872463 C T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.38770 p.D12924N 0.96 "HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain" "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8879494 8879494 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8879494 8879494 G T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.37680 p.D12560E 0.03 "HMMPfam_SEA,superfamily_SEA domain" "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8918662 8918662 + Silent SNP G G C novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8918662 8918662 G C SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.29784 p.S9928 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8921436 8921436 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8921436 8921436 G C SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.27010 p.P9004A 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8927447 8927447 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 8927447 8927447 G C SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.20999 p.S7000C 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8935946 8935946 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 8935946 8935946 G C SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.12500 p.A4167G 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8938660 8938660 + Silent SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8938660 8938660 C A SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.9786 p.L3262 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8943391 8943391 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 8943391 8943391 C T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.9424 p.E3142K 0.01 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8944768 8944768 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 8944768 8944768 C T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.8047 p.E2683K 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8946170 8946170 + Silent SNP T T C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8946170 8946170 T C SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.6645 p.T2215 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8947617 8947617 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8947617 8947617 G T SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.5198 p.S1733Y 0.01 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8947728 8947728 + Nonsense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8947728 8947728 G C SNP MUC16 NM_024690 human genbank 54_36p -1 validated nonsense c.5087 p.S1696* 0 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8948663 8948663 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 8948663 8948663 C A SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.4152 p.W1384C 0.02 NULL "HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain" - no_errors MUC16 94025 broad.mit.edu 36 19 8949834 8949848 + In_Frame_Del DEL GCAGAGAGAGAAGTG - GCAGAGAGAGAAGTG novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D GCAGAGAGAGAAGTG GCAGAGAGAGAAGTG - - GCAGAGAGAGAAGTG GCAGAGAGAGAAGTG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 8949834 8949848 GCAGAGAGAGAAGTG - DEL MUC16 NM_024690 human genbank 54_36p -1 validated in_frame_del c.2981_2967 p.SLSAT991in_frame_del 0.002:0.003:0.011:0.014:0.019:0.021:0.027:0.031:0.032:0.029:0.020:0.003:0.001:0.000:0.001 NULL "PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA" "(deletion:cds_exon[8943340,8952814])" no_errors OR7G1 125962 broad.mit.edu 36 19 9086745 9086745 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9086745 9086745 C G SNP OR7G1 NM_001005192 human genbank 54_36p -1 provisional missense c.695 p.R232T 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR7D4 125958 broad.mit.edu 36 19 9185997 9185997 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9185997 9185997 C T SNP OR7D4 NM_001005191 human genbank 54_36p -1 provisional missense c.517 p.E173K 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR7D4 125958 broad.mit.edu 36 19 9186271 9186271 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9186271 9186271 C T SNP OR7D4 NM_001005191 human genbank 54_36p -1 provisional missense c.243 p.M81I 0.86 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR7E24 26648 broad.mit.edu 36 19 9222964 9222964 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 9222964 9222964 C T SNP OR7E24 NM_001079935 human genbank 54_36p 1 provisional missense c.245 p.S82F 0.18 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors ZNF266 10781 broad.mit.edu 36 19 9385703 9385703 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9385703 9385703 C T SNP ZNF266 NM_006631 human genbank 54_36p -1 validated missense c.898 p.E300K 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF560 147741 broad.mit.edu 36 19 9442068 9442068 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9442068 9442068 C A SNP ZNF560 NM_152476 human genbank 54_36p -1 validated missense c.448 p.G150C 0.98 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF560 147741 broad.mit.edu 36 19 9442977 9442977 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 9442977 9442977 G A SNP ZNF560 NM_152476 human genbank 54_36p -1 validated nonsense c.316 p.Q106* 0 superfamily_Krueppel-associated_box "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF121 7675 broad.mit.edu 36 19 9538491 9538491 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 9538491 9538491 G A SNP ZNF121 NM_001008727 human genbank 54_36p -1 validated nonsense c.298 p.Q100* 0 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF121 7675 broad.mit.edu 36 19 9538501 9538501 + Silent SNP G G C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9538501 9538501 G C SNP ZNF121 NM_001008727 human genbank 54_36p -1 validated silent c.288 p.A96 0 superfamily_SSF57667 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF846 162993 broad.mit.edu 36 19 9729185 9729185 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9729185 9729185 T C SNP ZNF846 NM_001077624 human genbank 54_36p -1 validated missense c.1568 p.K523R 0.13 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00614,HMMSmart_SM00355,HMMPfam_zf-C2H2" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,HMMSmart_SM00614" - no_errors OLFM2 93145 broad.mit.edu 36 19 9826216 9826216 + Silent SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 9826216 9826216 G C SNP OLFM2 NM_058164 human genbank 54_36p -1 provisional silent c.1011 p.T337 1 "HMMPfam_OLF,HMMSmart_OLF" "HMMPfam_OLF,HMMSmart_OLF" - no_errors COL5A3 50509 broad.mit.edu 36 19 9945475 9945475 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 9945475 9945475 C A SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.3569 p.G1190V 0.99 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL5A3 50509 broad.mit.edu 36 19 9945882 9945882 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9945882 9945882 C T SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.3469 p.G1157R 1 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors COL5A3 50509 broad.mit.edu 36 19 9951669 9951669 + Splice_Site SNP C C A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9951669 9951669 C A SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed splice_site c.2658+1 e36+1 1 - - - no_errors COL5A3 50509 broad.mit.edu 36 19 9952504 9952504 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 9952504 9952504 G A SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.2537 p.A846V 1 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors COL5A3 50509 broad.mit.edu 36 19 9967274 9967274 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9967274 9967274 C T SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.1553 p.G518E 0.98 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors RDH8 50700 broad.mit.edu 36 19 9985252 9985252 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 9985252 9985252 C G SNP RDH8 NM_015725 human genbank 54_36p 1 validated missense c.79 p.H27D 0.94 "superfamily_NAD(P)-bd,HMMPfam_adh_short" "superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors RDH8 50700 broad.mit.edu 36 19 9993084 9993084 + Silent SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 9993084 9993084 C T SNP RDH8 NM_015725 human genbank 54_36p 1 validated silent c.690 p.S230 0 superfamily_NAD(P)-bd "HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-bd" - no_errors P2RY11 5032 broad.mit.edu 36 19 10086200 10086200 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10086200 10086200 A C SNP P2RY11 NM_002566 human genbank 54_36p 1 reviewed missense c.911 p.Q304P 0.9 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors DNMT1 1786 broad.mit.edu 36 19 10126610 10126610 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10126610 10126610 T C SNP DNMT1 NM_001379 human genbank 54_36p -1 reviewed missense c.1567 p.T523A 0.97 NULL "HMMPfam_DMAP_binding,HMMPfam_zf-CXXC,HMMPfam_BAH,HMMSmart_SM00439,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1,PatternScan_C5_MTASE_2" - no_errors MRPL4 51073 broad.mit.edu 36 19 10231467 10231473 + Frame_Shift_Del DEL CGGCCAC - CGGCCAC novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D CGGCCAC CGGCCAC - - CGGCCAC CGGCCAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 10231467 10231473 CGGCCAC - DEL MRPL4 NM_015956 human genbank 54_36p 1 reviewed frame_shift_del c.914_920 p.A306fs 0.000:0.001:0.001:0.001:0.000:0.001:0.005 NULL "superfamily_Ribosomal protein L4,HMMPfam_Ribosomal_L4" "(deletion:cds_exon[10231293,10231489])" no_errors ICAM1 3383 broad.mit.edu 36 19 10256085 10256085 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 10256085 10256085 C T SNP ICAM1 NM_000201 human genbank 54_36p 1 reviewed missense c.932 p.P311L 0.15 superfamily_Immunoglobulin "HMMPfam_ICAM_N,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors ZGLP1 100125288 broad.mit.edu 36 19 10276818 10276818 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10276818 10276818 C G SNP GLP-1 NM_001103167 human genbank 54_36p -1 validated missense c.765 p.K255N 0 NULL "PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716,HMMSmart_ZnF_GATA,HMMPfam_GATA" - no_errors RAVER1 125950 broad.mit.edu 36 19 10292538 10292538 + Silent SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10292538 10292538 C T SNP RAVER1 NM_133452 human genbank 54_36p -1 validated silent c.1614 p.L538 0.97 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors RAVER1 125950 broad.mit.edu 36 19 10295238 10295238 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10295238 10295238 G A SNP RAVER1 NM_133452 human genbank 54_36p -1 validated missense c.812 p.A271V 1 "HMMSmart_SM00360,superfamily_RNA-binding domain RBD" "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors TYK2 7297 broad.mit.edu 36 19 10324642 10324643 + Missense_Mutation DNP AC AC GG novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 AC AC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10324642 10324643 AC GG DNP TYK2 NM_003331 human genbank 54_36p -1 reviewed missense c.3160_3159 p.EY1053DH 0.998:0.861 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors TYK2 7297 broad.mit.edu 36 19 10334303 10334303 + Silent SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10334303 10334303 G A SNP TYK2 NM_003331 human genbank 54_36p -1 reviewed silent c.1398 p.P466 0 "HMMSmart_SH2,superfamily_SSF55550" "HMMSmart_SH2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550" - no_errors CDC37 11140 broad.mit.edu 36 19 10367867 10367867 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10367867 10367867 G A SNP CDC37 NM_007065 human genbank 54_36p -1 reviewed missense c.115 p.R39C 1 HMMPfam_CDC37_N "HMMPfam_CDC37_N,HMMPfam_CDC37_M,superfamily_Hsp90 co-chaperone CDC37,HMMPfam_CDC37_C" - no_errors PDE4A 5141 broad.mit.edu 36 19 10431271 10431271 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10431271 10431271 G A SNP PDE4A NM_006202 human genbank 54_36p 1 validated missense c.484 p.E162K 1 superfamily_HD-domain/PDEase-like "superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors KEAP1 9817 broad.mit.edu 36 19 10471143 10471143 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10471143 10471143 G C SNP KEAP1 NM_012289 human genbank 54_36p -1 reviewed missense c.567 p.N189K 1 HMMPfam_BACK "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KEAP1 9817 broad.mit.edu 36 19 10471575 10471575 + Silent SNP G G T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10471575 10471575 G T SNP KEAP1 NM_012289 human genbank 54_36p -1 reviewed silent c.135 p.S45 0.98 NULL "HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB" - no_errors S1PR5 53637 broad.mit.edu 36 19 10485568 10485568 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10485568 10485568 C T SNP S1PR5 NM_030760 human genbank 54_36p -1 validated missense c.1120 p.D374N 0.95 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CDKN2D 1032 broad.mit.edu 36 19 10538786 10538787 + Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10538786 10538787 CC AG DNP CDKN2D NM_001800 human genbank 54_36p -1 reviewed missense c.449_448 p.G150L 0.029:0.032 "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors SLC44A2 57153 broad.mit.edu 36 19 10607124 10607124 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10607124 10607124 A G SNP SLC44A2 NM_020428 human genbank 54_36p 1 validated missense c.1166 p.N389S 1 HMMPfam_DUF580 HMMPfam_DUF580 - no_errors ILF3 3609 broad.mit.edu 36 19 10650834 10650834 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10650834 10650834 C G SNP ILF3 NM_012218 human genbank 54_36p 1 reviewed missense c.713 p.T238S 1 "HMMSmart_SM00572,HMMPfam_DZF" "HMMSmart_SM00572,HMMPfam_DZF,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358" - no_errors ILF3 3609 broad.mit.edu 36 19 10653757 10653757 + Silent SNP G G A rs35968299 Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 19 10653757 10653757 G A SNP ILF3 NM_012218 human genbank 54_36p 1 reviewed silent c.1269 p.Q423 1 "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like" "HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_DZF,HMMSmart_SM00572,superfamily_dsRNA-binding domain-like" - no_errors ILF3 3609 broad.mit.edu 36 19 10654341 10654341 + Silent SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 10654341 10654341 C T SNP ILF3 NM_012218 human genbank 54_36p 1 reviewed silent c.1509 p.S503 0 NULL "HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_DZF,HMMSmart_SM00572,superfamily_dsRNA-binding domain-like" - no_errors DNM2 1785 broad.mit.edu 36 19 10758342 10758342 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 10758342 10758342 C T SNP DNM2 NM_001005360 human genbank 54_36p 1 reviewed missense c.952 p.R318W 1 HMMPfam_Dynamin_M "HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302" - no_errors DNM2 1785 broad.mit.edu 36 19 10769071 10769071 + Silent SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10769071 10769071 C A SNP DNM2 NM_001005361 human genbank 54_36p 1 reviewed silent c.1212 p.T404 1 HMMPfam_Dynamin_M "HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNM2 1785 broad.mit.edu 36 19 10791733 10791734 + Missense_Mutation DNP GC GC TG novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 10791733 10791734 GC TG DNP DNM2 NM_001005360 human genbank 54_36p 1 reviewed missense c.1749_1750 p.KH583ND 1.000:1.000 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SMARCA4 6597 broad.mit.edu 36 19 10966512 10966512 + Silent SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10966512 10966512 C A SNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed silent c.1428 p.L476 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_HSA,HMMSmart_SM00573" ############################################################################################################################################################################################################################################################### - no_errors SMARCA4 6597 broad.mit.edu 36 19 10979635 10979635 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 10979635 10979635 A G SNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed missense c.2059 p.K687E 1 superfamily_P-loop containing nucleoside triphosphate hydrolases ############################################################################################################################################################################################################################################################### - no_errors SMARCA4 6597 broad.mit.edu 36 19 10995230 10995230 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 10995230 10995230 C T SNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed missense c.2896 p.R966W 1 HMMPfam_SNF2_N ############################################################################################################################################################################################################################################################### - no_errors SMARCA4 6597 broad.mit.edu 36 19 10999568 10999568 + Silent SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 10999568 10999568 C T SNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed silent c.3324 p.L1108 1 superfamily_P-loop containing nucleoside triphosphate hydrolases ############################################################################################################################################################################################################################################################### - no_errors SMARCA4 6597 broad.mit.edu 36 19 11005525 11005526 + Missense_Mutation DNP AG AG CA novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 11005525 11005526 AG CA DNP SMARCA4 NM_003072 human genbank 54_36p 1 reviewed missense c.3857_3858 p.E1286A 1.000:1.000 NULL ############################################################################################################################################################################################################################################################### - no_errors LDLR 3949 broad.mit.edu 36 19 11079140 11079140 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11079140 11079140 A G SNP LDLR NM_000527 human genbank 54_36p 1 reviewed missense c.890 p.N297S 0.97 "superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" ############################################################################################################################################################################################################################################################### - no_errors DOCK6 57572 broad.mit.edu 36 19 11172116 11172116 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 11172116 11172116 G T SNP DOCK6 NM_020812 human genbank 54_36p -1 validated missense c.5969 p.A1990D 1 HMMPfam_Ded_cyto HMMPfam_Ded_cyto - no_errors TSPAN16 26526 broad.mit.edu 36 19 11269889 11269889 + Silent SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 11269889 11269889 C T SNP TSPAN16 NM_012466 human genbank 54_36p 1 reviewed silent c.141 p.L47 0.04 HMMPfam_Tetraspannin "PatternScan_TM4_1,HMMPfam_Tetraspannin,superfamily_Tetraspanin" - no_errors RAB3D 9545 broad.mit.edu 36 19 11307127 11307127 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11307127 11307127 G A SNP RAB3D NM_004283 human genbank 54_36p -1 provisional silent c.468 p.D156 0.99 "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" - no_errors CCDC159 126075 broad.mit.edu 36 19 11323591 11323591 + Silent SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11323591 11323591 C T SNP LOC126075 NM_001080503 human genbank 54_36p 1 validated silent c.663 p.F221 1 NULL NULL - no_errors EPOR 2057 broad.mit.edu 36 19 11349790 11349790 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11349790 11349790 G A SNP EPOR NM_000121 human genbank 54_36p -1 reviewed missense c.1397 p.T466I 0.9 NULL "superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F1" - no_errors RGL3 57139 broad.mit.edu 36 19 11369184 11369184 + Silent SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11369184 11369184 C T SNP RGL3 NM_001035223 human genbank 54_36p -1 provisional silent c.1836 p.S612 0 "superfamily_Ubiquitin-like,HMMSmart_SM00314" "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMSmart_SM00314,HMMPfam_RA" - no_errors CCDC151 115948 broad.mit.edu 36 19 11398566 11398566 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11398566 11398566 C A SNP CCDC151 NM_145045 human genbank 54_36p -1 validated missense c.651 p.Q217H 1 NULL NULL - no_errors PRKCSH 5589 broad.mit.edu 36 19 11408013 11408013 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 11408013 11408013 C T SNP PRKCSH NM_002743 human genbank 54_36p 1 reviewed silent c.75 p.L25 0.99 NULL "HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF47473,PatternScan_EF_HAND_1,superfamily_Man6php_recept,HMMPfam_PRKCSH,PatternScan_ER_TARGET" - no_errors ZNF823 55552 broad.mit.edu 36 19 11693769 11693769 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 11693769 11693769 T C SNP ZNF823 NM_001080493 human genbank 54_36p -1 validated missense c.1580 p.Y527C 0.1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF441 126068 broad.mit.edu 36 19 11752822 11752822 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 11752822 11752822 G C SNP ZNF441 NM_152355 human genbank 54_36p 1 validated missense c.982 p.E328Q 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF441 126068 broad.mit.edu 36 19 11753139 11753139 + Silent SNP T T C novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11753139 11753139 T C SNP ZNF441 NM_152355 human genbank 54_36p 1 validated silent c.1299 p.D433 0.12 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF491 126069 broad.mit.edu 36 19 11778484 11778484 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 11778484 11778484 G T SNP ZNF491 NM_152356 human genbank 54_36p 1 validated missense c.716 p.G239V 1 superfamily_SSF57667 "superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF20 7568 broad.mit.edu 36 19 12105390 12105390 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 12105390 12105390 C G SNP ZNF20 NM_021143 human genbank 54_36p -1 validated missense c.611 p.C204S 0.86 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF564 163050 broad.mit.edu 36 19 12499453 12499453 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12499453 12499453 G A SNP ZNF564 NM_144976 human genbank 54_36p -1 validated nonsense c.469 p.R157* 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors ZNF791 163049 broad.mit.edu 36 19 12599844 12599844 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12599844 12599844 A C SNP ZNF791 NM_153358 human genbank 54_36p 1 validated missense c.501 p.K167N 0.7 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MAN2B1 4125 broad.mit.edu 36 19 12635203 12635203 + Silent SNP C C A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12635203 12635203 C A SNP MAN2B1 NM_000528 human genbank 54_36p -1 reviewed silent c.837 p.V279 0.99 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors FBXW9 84261 broad.mit.edu 36 19 12661620 12661620 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12661620 12661620 C G SNP FBXW9 ENST00000254324 human ensembl 54_36p -1 known missense c.155 p.C52S 0.96 NULL NULL - no_errors ASNA1 439 broad.mit.edu 36 19 12717512 12717523 + In_Frame_Del DEL TGGAGCGGGGCC - TGGAGCGGGGCC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D TGGAGCGGGGCC TGGAGCGGGGCC - - TGGAGCGGGGCC TGGAGCGGGGCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 12717512 12717523 TGGAGCGGGGCC - DEL ASNA1 NM_004317 human genbank 54_36p 1 validated in_frame_del c.548_559 p.ERGL184in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ArsA_ATPase" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ArsA_ATPase" "(deletion:cds_exon[12717423,12717573])" no_errors ASNA1 439 broad.mit.edu 36 19 12719090 12719090 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 12719090 12719090 G A SNP ASNA1 NM_004317 human genbank 54_36p 1 validated missense c.689 p.R230H 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ArsA_ATPase" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ArsA_ATPase" - no_errors BEST2 54831 broad.mit.edu 36 19 12727268 12727268 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12727268 12727268 C T SNP BEST2 NM_017682 human genbank 54_36p 1 reviewed nonsense c.712 p.Q238* 1 HMMPfam_Bestrophin HMMPfam_Bestrophin - no_errors MAST1 22983 broad.mit.edu 36 19 12810413 12810413 + Silent SNP T T C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 12810413 12810413 T C SNP MAST1 NM_014975 human genbank 54_36p 1 provisional silent c.27 p.L9 1 NULL "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors MAST1 22983 broad.mit.edu 36 19 12840505 12840505 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12840505 12840505 A G SNP MAST1 NM_014975 human genbank 54_36p 1 provisional missense c.2615 p.D872G 0.88 NULL "HMMSmart_S_TK_X,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_DUF1908,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors FARSA 2193 broad.mit.edu 36 19 12896065 12896065 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 12896065 12896065 C A SNP FARSA NM_004461 human genbank 54_36p -1 validated missense c.1288 p.V430L 1 "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d" "superfamily_Winged helix DNA-binding domain,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d" - no_errors FARSA 2193 broad.mit.edu 36 19 12900613 12900613 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 12900613 12900613 G T SNP FARSA NM_004461 human genbank 54_36p -1 validated missense c.552 p.S184R 0.26 NULL "HMMPfam_tRNA-synt_2d,superfamily_Winged helix DNA-binding domain,superfamily_Class II aaRS and biotin synthetases" - no_errors CALR 811 broad.mit.edu 36 19 12912239 12912239 + Silent SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12912239 12912239 C T SNP CALR NM_004343 human genbank 54_36p 1 reviewed silent c.675 p.I225 0.72 "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Calreticulin,PatternScan_CALRETICULIN_REPEAT" "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Calreticulin,PatternScan_CALRETICULIN_1,PatternScan_CALRETICULIN_2,PatternScan_CALRETICULIN_REPEAT" - no_errors RAD23A 5886 broad.mit.edu 36 19 12924845 12924845 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 12924845 12924845 G C SNP RAD23A NM_005053 human genbank 54_36p 1 reviewed missense c.1074 p.Q358H 1 superfamily_UBA_like "PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin,superfamily_UBA_like,HMMPfam_UBA,HMMSmart_UBA,superfamily_XPC-bd,HMMSmart_STI1,HMMPfam_XPC-binding" - no_errors GADD45GIP1 90480 broad.mit.edu 36 19 12926202 12926202 + Silent SNP G G C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 12926202 12926202 G C SNP GADD45GIP1 NM_052850 human genbank 54_36p -1 provisional silent c.489 p.L163 1 HMMPfam_CR6_interact HMMPfam_CR6_interact - no_errors TRMT1 55621 broad.mit.edu 36 19 13081216 13081216 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 13081216 13081216 G A SNP TRMT1 NM_017722 human genbank 54_36p -1 validated missense c.1376 p.T459I 1 HMMPfam_TRM "HMMPfam_TRM,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH" - no_errors IER2 9592 broad.mit.edu 36 19 13125078 13125078 + Silent SNP T T G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13125078 13125078 T G SNP IER2 NM_004907 human genbank 54_36p 1 provisional silent c.78 p.G26 0.92 HMMPfam_IER HMMPfam_IER - no_errors CACNA1A 773 broad.mit.edu 36 19 13202003 13202003 + Silent SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 13202003 13202003 G A SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known silent c.5424 p.A1808 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1A 773 broad.mit.edu 36 19 13426965 13426965 + Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13426965 13426965 G A SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known nonsense c.355 p.Q119* 1 superfamily_Voltage-gated potassium channels "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors C19orf53 28974 broad.mit.edu 36 19 13746312 13746312 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 13746312 13746312 G C SNP C19orf53 NM_014047 human genbank 54_36p 1 validated missense c.21 p.K7N 1 HMMPfam_DUF2462 HMMPfam_DUF2462 - no_errors C19orf53 28974 broad.mit.edu 36 19 13749905 13749905 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 13749905 13749905 G A SNP C19orf53 NM_014047 human genbank 54_36p 1 validated missense c.193 p.V65M 0.81 HMMPfam_DUF2462 HMMPfam_DUF2462 - no_errors ZSWIM4 65249 broad.mit.edu 36 19 13776878 13776878 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13776878 13776878 G T SNP ZSWIM4 NM_023072 human genbank 54_36p 1 validated missense c.628 p.A210S 1 NULL HMMPfam_SWIM - no_errors ZSWIM4 65249 broad.mit.edu 36 19 13784970 13784971 + Missense_Mutation DNP CC CC TG novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13784970 13784971 CC TG DNP ZSWIM4 NM_023072 human genbank 54_36p 1 validated missense c.1172_1173 p.P391L 0.002:0.025 NULL HMMPfam_SWIM - no_errors C19orf57 79173 broad.mit.edu 36 19 13861722 13861722 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13861722 13861722 C G SNP C19orf57 NM_024323 human genbank 54_36p -1 predicted missense c.947 p.S316T 0 NULL NULL - no_errors C19orf57 79173 broad.mit.edu 36 19 13862229 13862229 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13862229 13862229 A G SNP C19orf57 NM_024323 human genbank 54_36p -1 predicted missense c.440 p.L147P 0 NULL NULL - no_errors RFX1 5989 broad.mit.edu 36 19 13940457 13940457 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 13940457 13940457 T G SNP RFX1 NM_002918 human genbank 54_36p -1 reviewed missense c.1652 p.N551T 1 NULL "HMMPfam_RFX1_trans_act,HMMPfam_RFX_DNA_binding,superfamily_Winged helix DNA-binding domain" - no_errors IL27RA 9466 broad.mit.edu 36 19 14023431 14023431 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 14023431 14023431 G T SNP IL27RA NM_004843 human genbank 54_36p 1 reviewed missense c.1541 p.R514M 0.03 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ASF1B 55723 broad.mit.edu 36 19 14093358 14093358 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 14093358 14093358 G A SNP ASF1B NM_018154 human genbank 54_36p -1 reviewed missense c.388 p.P130S 1 "superfamily_Anti-silence,HMMPfam_ASF1_hist_chap" "superfamily_Anti-silence,HMMPfam_ASF1_hist_chap" - no_errors LPHN1 22859 broad.mit.edu 36 19 14129845 14129845 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 14129845 14129845 G T SNP LPHN1 NM_001008701 human genbank 54_36p -1 reviewed missense c.2399 p.A800D 1 "HMMPfam_GPS,HMMSmart_SM00303" "HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_SM00284,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin" - no_errors CD97 976 broad.mit.edu 36 19 14369896 14369896 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14369896 14369896 A T SNP CD97 NM_078481 human genbank 54_36p 1 reviewed missense c.842 p.K281I 0 NULL "HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors CD97 976 broad.mit.edu 36 19 14374441 14374441 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14374441 14374441 A G SNP CD97 NM_078481 human genbank 54_36p 1 reviewed missense c.1216 p.N406D 0 NULL "PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_G_PROTEIN_RECEP_F2_2,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Family A G protein-coupled receptor-like" - no_errors PKN1 5585 broad.mit.edu 36 19 14423650 14423650 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14423650 14423650 A G SNP PKN1 NM_213560 human genbank 54_36p 1 reviewed missense c.998 p.E333G 1 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ############################################################################################################################################################################################################################################################### - no_errors TECR 9524 broad.mit.edu 36 19 14536086 14536086 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 14536086 14536086 G A SNP GPSN2 NM_138501 human genbank 54_36p 1 validated missense c.476 p.R159H 1 HMMPfam_Steroid_dh HMMPfam_Steroid_dh - no_errors NDUFB7 4713 broad.mit.edu 36 19 14538058 14538058 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14538058 14538058 C T SNP NDUFB7 NM_004146 human genbank 54_36p -1 reviewed missense c.301 p.E101K 1 HMMPfam_NDUF_B7 HMMPfam_NDUF_B7 - no_errors EMR3 84658 broad.mit.edu 36 19 14613392 14613392 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14613392 14613392 C T SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed missense c.1087 p.G363R 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2" "HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors EMR3 84658 broad.mit.edu 36 19 14615967 14615967 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14615967 14615967 A T SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed missense c.1003 p.C335S 0.31 "HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like" "PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_G_PROTEIN_RECEP_F2_2,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Family A G protein-coupled receptor-like" - no_errors OR7C1 26664 broad.mit.edu 36 19 14771869 14771869 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14771869 14771869 A G SNP OR7C1 NM_198944 human genbank 54_36p -1 validated missense c.80 p.L27P 0.02 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR7C2 26658 broad.mit.edu 36 19 14913699 14913699 + Silent SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14913699 14913699 G A SNP OR7C2 NM_012377 human genbank 54_36p 1 provisional silent c.399 p.T133 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SLC1A6 6511 broad.mit.edu 36 19 14944684 14944684 + Silent SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 14944684 14944684 G A SNP SLC1A6 NM_005071 human genbank 54_36p -1 provisional silent c.39 p.S13 0.95 NULL "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors OR1I1 126370 broad.mit.edu 36 19 15058970 15058970 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 15058970 15058970 C G SNP OR1I1 NM_001004713 human genbank 54_36p 1 provisional missense c.94 p.L32V 0.99 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NOTCH3 4854 broad.mit.edu 36 19 15139118 15139118 + Silent SNP C C A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 15139118 15139118 C A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.5304 p.L1768 0.98 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH3 4854 broad.mit.edu 36 19 15142145 15142145 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 15142145 15142145 A C SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed missense c.5111 p.M1704R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH3 4854 broad.mit.edu 36 19 15161209 15161209 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 15161209 15161209 A G SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed missense c.1067 p.V356A 1 "HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors AKAP8 10270 broad.mit.edu 36 19 15344906 15344906 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 15344906 15344906 C A SNP AKAP8 NM_005858 human genbank 54_36p -1 reviewed missense c.617 p.R206L 0.98 NULL "superfamily_SSF56935,HMMSmart_ZnF_C2H2,HMMPfam_AKAP95,HMMPfam_RII_binding_1" - no_errors WIZ 58525 broad.mit.edu 36 19 15398868 15398884 + Frame_Shift_Del DEL CCCCCGGCAGCATCTCC - CCCCCGGCAGCATCTCC novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W CCCCCGGCAGCATCTCC CCCCCGGCAGCATCTCC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 15398868 15398884 CCCCCGGCAGCATCTCC - DEL WIZ NM_021241 human genbank 54_36p -1 validated frame_shift_del c.1006_990 p.E331fs 0.998:1.000:1.000:0.997:0.918:0.987:0.991:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[15398793,15399344])" no_errors PGLYRP2 114770 broad.mit.edu 36 19 15440505 15440505 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 15440505 15440505 G T SNP PGLYRP2 NM_052890 human genbank 54_36p -1 validated missense c.1700 p.P567Q 0 NULL "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" - no_errors CYP4F3 4051 broad.mit.edu 36 19 15617582 15617582 + Silent SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 15617582 15617582 C T SNP CYP4F3 NM_000896 human genbank 54_36p 1 reviewed silent c.252 p.F84 0 "superfamily_Cytochrome_P450,HMMPfam_p450" "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors CYP4F12 66002 broad.mit.edu 36 19 15655418 15655418 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 15655418 15655418 C T SNP CYP4F12 NM_023944 human genbank 54_36p 1 reviewed missense c.763 p.R255C 0.91 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors CYP4F12 66002 broad.mit.edu 36 19 15655522 15655522 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 15655522 15655522 C G SNP CYP4F12 NM_023944 human genbank 54_36p 1 reviewed missense c.867 p.D289E 0.24 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors OR10H1 26539 broad.mit.edu 36 19 15779448 15779448 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 15779448 15779448 C T SNP OR10H1 NM_013940 human genbank 54_36p -1 validated missense c.400 p.V134M 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10H1 26539 broad.mit.edu 36 19 15779819 15779819 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 15779819 15779819 G C SNP OR10H1 NM_013940 human genbank 54_36p -1 validated missense c.29 p.T10S 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors CYP4F2 8529 broad.mit.edu 36 19 15861331 15861331 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 15861331 15861331 G A SNP CYP4F2 NM_001082 human genbank 54_36p -1 reviewed missense c.820 p.R274W 0.61 "superfamily_Cytochrome_P450,HMMPfam_p450" "superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors TPM4 7171 broad.mit.edu 36 19 16039452 16039452 + Silent SNP G G A novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 16039452 16039452 G A SNP TPM4 ENST00000344824 human ensembl 54_36p 1 known silent c.18 p.K6 1 NULL "HMMPfam_Tropomyosin,PatternScan_TROPOMYOSIN" - no_errors AP1M1 8907 broad.mit.edu 36 19 16175404 16175404 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 16175404 16175404 G A SNP AP1M1 NM_032493 human genbank 54_36p 1 reviewed nonsense c.177 p.W59* 1 superfamily_SNARE-like "superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,PatternScan_CLAT_ADAPTOR_M_2" - no_errors EPS15L1 58513 broad.mit.edu 36 19 16389758 16389758 + Splice_Site SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 16389758 16389758 C A SNP EPS15L1 NM_021235 human genbank 54_36p -1 provisional splice_site c.1107+1 e11+1 1 - - - no_errors SLC35E1 79939 broad.mit.edu 36 19 16538361 16538361 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 16538361 16538361 G A SNP SLC35E1 NM_024881 human genbank 54_36p -1 validated silent c.306 p.F102 1 "HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE" "HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE" - no_errors MED26 9441 broad.mit.edu 36 19 16547872 16547872 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 16547872 16547872 C T SNP MED26 NM_004831 human genbank 54_36p -1 validated missense c.1769 p.R590H 0.98 NULL "HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMSmart_SM00509" - no_errors TMEM38A 79041 broad.mit.edu 36 19 16651828 16651828 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 16651828 16651828 C T SNP TMEM38A NM_024074 human genbank 54_36p 1 provisional missense c.158 p.A53V 1 HMMPfam_DUF714 HMMPfam_DUF714 - no_errors CPAMD8 27151 broad.mit.edu 36 19 16886585 16886585 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 16886585 16886585 C T SNP CPAMD8 NM_015692 human genbank 54_36p -1 validated missense c.3809 p.R1270H 1 "superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp" ############################################################################################################################################################################################################################################################### - no_errors CPAMD8 27151 broad.mit.edu 36 19 16900019 16900019 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 19 16900019 16900019 T C SNP CPAMD8 NM_015692 human genbank 54_36p -1 validated missense c.3311 p.N1104S 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CPAMD8 27151 broad.mit.edu 36 19 16952496 16952496 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 19 16952496 16952496 C A SNP CPAMD8 NM_015692 human genbank 54_36p -1 validated missense c.1537 p.V513F 1 HMMPfam_A2M_N_2 ############################################################################################################################################################################################################################################################### - no_errors CPAMD8 27151 broad.mit.edu 36 19 16969035 16969035 + Silent SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 16969035 16969035 C A SNP CPAMD8 NM_015692 human genbank 54_36p -1 validated silent c.1122 p.G374 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CPAMD8 27151 broad.mit.edu 36 19 16981120 16981120 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 16981120 16981120 T C SNP CPAMD8 NM_015692 human genbank 54_36p -1 validated missense c.638 p.Y213C 1 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors MYO9B 4650 broad.mit.edu 36 19 17166612 17166617 + In_Frame_Del DEL ACTCTC - ACTCTC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 ACTCTC ACTCTC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 17166612 17166617 ACTCTC - DEL MYO9B NM_004145 human genbank 54_36p 1 validated in_frame_del c.3376_3381 p.TL1126in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000 NULL "HMMPfam_RA,HMMSmart_RA,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" "(deletion:cds_exon[17166365,17167282])" no_errors USHBP1 83878 broad.mit.edu 36 19 17227269 17227269 + Silent SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17227269 17227269 C T SNP USHBP1 NM_031941 human genbank 54_36p -1 validated silent c.1617 p.Q539 0.01 NULL HMMPfam_MCC-bdg_PDZ - no_errors ANO8 57719 broad.mit.edu 36 19 17296810 17296810 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17296810 17296810 C A SNP ANO8 NM_020959 human genbank 54_36p -1 provisional missense c.3047 p.G1016V 0.28 NULL HMMPfam_DUF590 - no_errors ANO8 57719 broad.mit.edu 36 19 17301630 17301630 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17301630 17301630 A T SNP ANO8 NM_020959 human genbank 54_36p -1 provisional missense c.1340 p.V447D 1 NULL HMMPfam_DUF590 - no_errors BST2 684 broad.mit.edu 36 19 17376202 17376202 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 17376202 17376202 T G SNP BST2 NM_004335 human genbank 54_36p -1 reviewed missense c.330 p.Q110H 0 NULL NULL - no_errors BST2 684 broad.mit.edu 36 19 17377280 17377280 + Silent SNP C C G novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17377280 17377280 C G SNP BST2 NM_004335 human genbank 54_36p -1 reviewed silent c.105 p.V35 0 NULL NULL - no_errors FAM129C 199786 broad.mit.edu 36 19 17523661 17523661 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17523661 17523661 T C SNP FAM129C NM_001098524 human genbank 54_36p 1 validated missense c.1910 p.I637T 0.01 NULL "superfamily_PH domain-like,HMMSmart_SM00233" - no_errors UNC13A 23025 broad.mit.edu 36 19 17611681 17611681 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17611681 17611681 T A SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional missense c.3088 p.N1030Y 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors UNC13A 23025 broad.mit.edu 36 19 17617817 17617817 + Silent SNP A A G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17617817 17617817 A G SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional silent c.2412 p.Y804 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_Cysteine-rich domain" - no_errors UNC13A 23025 broad.mit.edu 36 19 17646535 17646535 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17646535 17646535 A T SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional missense c.347 p.V116E 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_Cysteine-rich domain" - no_errors MAP1S 55201 broad.mit.edu 36 19 17706155 17706155 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17706155 17706155 C T SNP MAP1S NM_018174 human genbank 54_36p 1 validated missense c.3098 p.A1033V 0.89 NULL NULL - no_errors JAK3 3718 broad.mit.edu 36 19 17811423 17811423 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17811423 17811423 G A SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed missense c.1304 p.T435I 0 "superfamily_SH2 domain,HMMSmart_SM00252" "HMMSmart_SM00295,superfamily_SH2 domain,HMMSmart_SM00252,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_THIOL_PROTEASE_HIS,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors KCNN1 3780 broad.mit.edu 36 19 17945992 17945992 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 17945992 17945992 C G SNP KCNN1 NM_002248 human genbank 54_36p 1 reviewed missense c.295 p.L99V 1 HMMPfam_SK_channel "HMMPfam_SK_channel,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_Small-conductance potassium channel,HMMPfam_CaMBD" - no_errors KCNN1 3780 broad.mit.edu 36 19 17946960 17946960 + Silent SNP G G T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17946960 17946960 G T SNP KCNN1 NM_002248 human genbank 54_36p 1 reviewed silent c.462 p.L154 0.98 HMMPfam_SK_channel "HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels" - no_errors KCNN1 3780 broad.mit.edu 36 19 17953529 17953529 + Silent SNP G G T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17953529 17953529 G T SNP KCNN1 NM_002248 human genbank 54_36p 1 reviewed silent c.510 p.V170 1 HMMPfam_SK_channel "HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels" - no_errors MAST3 23031 broad.mit.edu 36 19 18096582 18096582 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 18096582 18096582 A C SNP MAST3 NM_015016 human genbank 54_36p 1 validated missense c.989 p.E330A 1 HMMPfam_DUF1908 "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors MAST3 23031 broad.mit.edu 36 19 18116395 18116395 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 18116395 18116395 G A SNP MAST3 NM_015016 human genbank 54_36p 1 validated missense c.2617 p.A873T 0.02 NULL "HMMSmart_S_TK_X,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_DUF1908,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors PIK3R2 5296 broad.mit.edu 36 19 18137981 18137981 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 18137981 18137981 G A SNP PIK3R2 NM_005027 human genbank 54_36p 1 validated missense c.1428 p.M476I 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors KIAA1683 80726 broad.mit.edu 36 19 18237230 18237230 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 18237230 18237230 G A SNP KIAA1683 NM_025249 human genbank 54_36p -1 validated missense c.2120 p.A707V 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" - no_errors KIAA1683 80726 broad.mit.edu 36 19 18238290 18238290 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 18238290 18238290 A G SNP KIAA1683 NM_025249 human genbank 54_36p -1 validated missense c.1060 p.Y354H 0.01 NULL "HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ISYNA1 51477 broad.mit.edu 36 19 18407730 18407730 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 18407730 18407730 G T SNP ISYNA1 NM_016368 human genbank 54_36p -1 provisional missense c.977 p.T326N 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_NAD_binding_5,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_Inos-1-P_synth" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_NAD_binding_5,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_Inos-1-P_synth" - no_errors FKBP8 23770 broad.mit.edu 36 19 18503978 18503979 + 3'UTR DNP GT GT CG novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 18503978 18503979 GT CG DNP FKBP8 NM_012181 human genbank 54_36p -1 reviewed 3_prime_untranslated_region c.*1 NULL 0.047:0.977 - - - no_errors FKBP8 23770 broad.mit.edu 36 19 18511469 18511469 + Silent SNP G G C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 18511469 18511469 G C SNP FKBP8 NM_012181 human genbank 54_36p -1 reviewed silent c.354 p.V118 0.84 "superfamily_SSF54534,HMMPfam_FKBP_C" "superfamily_SSF54534,HMMPfam_FKBP_C,superfamily_SSF48452,HMMPfam_TPR_1" - no_errors CRTC1 23373 broad.mit.edu 36 19 18747579 18747579 + Silent SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 18747579 18747579 G A SNP CRTC1 NM_001098482 human genbank 54_36p 1 validated silent c.1689 p.S563 0.99 NULL NULL - no_errors COPE 11316 broad.mit.edu 36 19 18891111 18891111 + Missense_Mutation SNP A A C rs11537888 Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 18891111 18891111 A C SNP COPE NM_007263 human genbank 54_36p -1 reviewed missense c.47 p.V16G 1 HMMPfam_Coatomer_E "HMMPfam_Coatomer_E,superfamily_TPR-like" - no_errors ARMC6 93436 broad.mit.edu 36 19 19029264 19029264 + Splice_Site SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 19029264 19029264 G A SNP ARMC6 ENST00000379532 human ensembl 54_36p 1 known splice_site c.993+1 e6+1 1 - - - no_start_codon RFXANK 8625 broad.mit.edu 36 19 19170992 19170992 + Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19170992 19170992 G A SNP RFXANK NM_003721 human genbank 54_36p 1 reviewed missense c.661 p.D221N 1 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors NCAN 1463 broad.mit.edu 36 19 19190823 19190823 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19190823 19190823 C T SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.173 p.P58L 1 "superfamily_SSF48726,HMMSmart_IG" ############################################################################################################################################################################################################################################################### - no_errors NCAN 1463 broad.mit.edu 36 19 19200041 19200041 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19200041 19200041 C T SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.2612 p.T871M 0 NULL ############################################################################################################################################################################################################################################################### - no_errors GATAD2A 54815 broad.mit.edu 36 19 19473163 19473163 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 19473163 19473163 G C SNP GATAD2A NM_017660 human genbank 54_36p 1 provisional missense c.1009 p.G337R 0.95 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA" - no_errors NDUFA13 51079 broad.mit.edu 36 19 19488083 19488083 + Silent SNP G G C rs11552886 Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 19488083 19488083 G C SNP NDUFA13 NM_015965 human genbank 54_36p 1 validated silent c.285 p.P95 0.42 HMMPfam_GRIM-19 HMMPfam_GRIM-19 - no_errors CILP2 148113 broad.mit.edu 36 19 19514197 19514197 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19514197 19514197 C G SNP CILP2 NM_153221 human genbank 54_36p 1 validated missense c.606 p.D202E 0.01 NULL "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_CarboxypepD_reg,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors CILP2 148113 broad.mit.edu 36 19 19517673 19517673 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 19517673 19517673 C A SNP CILP2 NM_153221 human genbank 54_36p 1 validated missense c.3319 p.P1107T 1 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMSmart_IGc2,superfamily_CarboxypepD_reg,HMMPfam_I-set,superfamily_SSF48726" - no_errors ATP13A1 57130 broad.mit.edu 36 19 19627160 19627160 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19627160 19627160 G T SNP ATP13A1 NM_020410 human genbank 54_36p -1 validated missense c.1145 p.A382D 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660" - no_errors ATP13A1 57130 broad.mit.edu 36 19 19628522 19628522 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19628522 19628522 G A SNP ATP13A1 NM_020410 human genbank 54_36p -1 validated missense c.676 p.R226C 1 "HMMPfam_E1-E2_ATPase,superfamily_SSF81653" "HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660" - no_errors ZNF101 94039 broad.mit.edu 36 19 19652053 19652053 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19652053 19652053 G A SNP ZNF101 NM_033204 human genbank 54_36p 1 provisional missense c.1255 p.G419R 0.1 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF14 7561 broad.mit.edu 36 19 19683497 19683497 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 19683497 19683497 A T SNP ZNF14 NM_021030 human genbank 54_36p -1 reviewed missense c.1593 p.F531L 0.01 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF14 7561 broad.mit.edu 36 19 19684594 19684594 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 19684594 19684594 C T SNP ZNF14 NM_021030 human genbank 54_36p -1 reviewed missense c.496 p.V166M 0.93 superfamily_SSF57667 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF14 7561 broad.mit.edu 36 19 19685901 19685901 + Silent SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 19685901 19685901 T G SNP ZNF14 NM_021030 human genbank 54_36p -1 reviewed silent c.190 p.R64 0.07 HMMSmart_KRAB "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF486 90649 broad.mit.edu 36 19 20168880 20168880 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 20168880 20168880 C T SNP ZNF486 NM_052852 human genbank 54_36p 1 provisional missense c.361 p.H121Y 0.04 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF714 148206 broad.mit.edu 36 19 21092186 21092186 + Silent SNP T T A novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 21092186 21092186 T A SNP ZNF714 NM_182515 human genbank 54_36p 1 validated silent c.876 p.A292 0.17 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF708 7562 broad.mit.edu 36 19 21268402 21268402 + Frame_Shift_Del DEL G - G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 21268402 21268402 G - DEL ZNF708 NM_021269 human genbank 54_36p -1 validated frame_shift_del c.1206 p.K403fs 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ZINC_PROTEASE" "(deletion:cds_exon[21267916,21269381])" no_errors ZNF708 7562 broad.mit.edu 36 19 21283944 21283944 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 21283944 21283944 T C SNP ZNF708 NM_021269 human genbank 54_36p -1 validated missense c.170 p.E57G 0.94 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ZINC_PROTEASE" - no_errors ZNF43 7594 broad.mit.edu 36 19 21782339 21782339 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 21782339 21782339 A C SNP ZNF43 NM_003423 human genbank 54_36p -1 validated missense c.2340 p.H780Q 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF208 7757 broad.mit.edu 36 19 21946280 21946280 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 21946280 21946280 C A SNP ZNF208 NM_007153 human genbank 54_36p -1 provisional missense c.3014 p.R1005M 0 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF208 7757 broad.mit.edu 36 19 21947816 21947816 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 21947816 21947816 C A SNP ZNF208 NM_007153 human genbank 54_36p -1 provisional missense c.1562 p.R521M 0 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF208 7757 broad.mit.edu 36 19 21947837 21947837 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 21947837 21947837 T G SNP ZNF208 NM_007153 human genbank 54_36p -1 provisional missense c.1541 p.N514T 0.1 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF208 7757 broad.mit.edu 36 19 21947946 21947946 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 21947946 21947946 A C SNP ZNF208 ENST00000340708 human ensembl 54_36p -1 known missense c.1427 p.V476G 0.55 superfamily_Multiheme cytochromes "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers" - no_start_codon ZNF257 113835 broad.mit.edu 36 19 22062936 22062936 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 22062936 22062936 T C SNP ZNF257 NM_033468 human genbank 54_36p 1 provisional missense c.544 p.F182L 0.01 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors ZNF257 113835 broad.mit.edu 36 19 22063063 22063063 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 22063063 22063063 C T SNP ZNF257 NM_033468 human genbank 54_36p 1 provisional missense c.671 p.T224I 0.56 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF99 7652 broad.mit.edu 36 19 22733086 22733086 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 22733086 22733086 C A SNP ZNF99 NM_001080409 human genbank 54_36p -1 provisional missense c.1192 p.A398S 0.03 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF91 7644 broad.mit.edu 36 19 23336986 23336986 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 23336986 23336986 C T SNP ZNF91 NM_003430 human genbank 54_36p -1 validated missense c.635 p.C212Y 0.61 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355" - no_errors ZNF91 7644 broad.mit.edu 36 19 23337260 23337260 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 23337260 23337260 G T SNP ZNF91 NM_003430 human genbank 54_36p -1 validated missense c.361 p.Q121K 0 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors PLEKHF1 79156 broad.mit.edu 36 19 34856998 34856998 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 34856998 34856998 G A SNP PLEKHF1 NM_024310 human genbank 54_36p 1 validated missense c.412 p.G138S 1 superfamily_FYVE_PHD_ZnF "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors ZNF536 9745 broad.mit.edu 36 19 35626726 35626726 + Silent SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 35626726 35626726 C T SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional silent c.417 p.F139 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF536 9745 broad.mit.edu 36 19 35628320 35628320 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 35628320 35628320 C T SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional missense c.2011 p.R671W 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF536 9745 broad.mit.edu 36 19 35730977 35730977 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 35730977 35730977 G C SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional missense c.2611 p.G871R 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors TSHZ3 57616 broad.mit.edu 36 19 36460292 36460292 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 36460292 36460292 C T SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated missense c.2247 p.M749I 1 NULL "PatternScan_HOMEOBOX_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors ZNF507 22847 broad.mit.edu 36 19 37536140 37536140 + Silent SNP C C T novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 37536140 37536140 C T SNP ZNF507 NM_014910 human genbank 54_36p 1 validated silent c.564 p.S188 0.8 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors DPY19L3 147991 broad.mit.edu 36 19 37651543 37651543 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 37651543 37651543 C G SNP DPY19L3 NM_207325 human genbank 54_36p 1 provisional missense c.1681 p.L561V 1 HMMPfam_DUF2211 HMMPfam_DUF2211 - no_errors PDCD5 9141 broad.mit.edu 36 19 37768650 37768650 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 37768650 37768650 G C SNP PDCD5 NM_004708 human genbank 54_36p 1 reviewed missense c.255 p.E85D 1 "HMMPfam_dsDNA_bind,superfamily_Hypothetical protein MTH1615" "HMMPfam_dsDNA_bind,superfamily_Hypothetical protein MTH1615" - no_errors ANKRD27 84079 broad.mit.edu 36 19 37802272 37802272 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 37802272 37802272 G C SNP ANKRD27 NM_032139 human genbank 54_36p -1 validated missense c.1855 p.L619V 0 NULL "superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors NUDT19 390916 broad.mit.edu 36 19 37875230 37875231 + Missense_Mutation DNP CG CG AC novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W CG CG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 37875230 37875231 CG AC DNP NUDT19 NM_001105570 human genbank 54_36p 1 validated missense c.524_525 p.P175H 0.954:0.462 "superfamily_NUDIX_hydrolase,HMMPfam_NUDIX" "PatternScan_NUDIX,superfamily_NUDIX_hydrolase,HMMPfam_NUDIX" - no_errors SLC7A9 11136 broad.mit.edu 36 19 38046869 38046869 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 38046869 38046869 C G SNP SLC7A9 NM_014270 human genbank 54_36p -1 reviewed missense c.451 p.V151L 0.29 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors RHPN2 85415 broad.mit.edu 36 19 38174570 38174570 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 38174570 38174570 G A SNP RHPN2 NM_033103 human genbank 54_36p -1 provisional missense c.1643 p.S548L 1 "superfamily_PDZ,HMMSmart_PDZ" "superfamily_PKN_effector,HMMSmart_Hr1,HMMPfam_HR1,HMMPfam_BRO1,superfamily_PDZ,HMMSmart_PDZ" - no_errors WDR88 126248 broad.mit.edu 36 19 38334001 38334001 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 38334001 38334001 A T SNP WDR88 NM_173479 human genbank 54_36p 1 validated missense c.754 p.R252W 0.97 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,HMMSmart_SM00564,HMMPfam_PQQ,PatternScan_WD_REPEATS_1" - no_errors LRP3 4037 broad.mit.edu 36 19 38388221 38388221 + Silent SNP C C T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 38388221 38388221 C T SNP LRP3 NM_002333 human genbank 54_36p 1 validated silent c.705 p.D235 0.95 "HMMPfam_Ldl_recept_a,superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_LDLa,PatternScan_LDLRA_1" "superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1" - no_errors SLC7A10 56301 broad.mit.edu 36 19 38393283 38393283 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 38393283 38393283 C T SNP SLC7A10 NM_019849 human genbank 54_36p -1 validated missense c.1193 p.C398Y 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors PEPD 5184 broad.mit.edu 36 19 38672798 38672798 + Silent SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 38672798 38672798 G A SNP PEPD NM_000285 human genbank 54_36p -1 validated silent c.447 p.G149 0.97 "superfamily_SSF53092,HMMPfam_AMP_N" "superfamily_SSF53092,HMMPfam_AMP_N,superfamily_Peptidase_M24_cat_core,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE" - no_errors CHST8 64377 broad.mit.edu 36 19 38872009 38872009 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 38872009 38872009 T A SNP CHST8 NM_022467 human genbank 54_36p 1 validated missense c.2 p.M1K 0.55 NULL HMMPfam_Sulfotransfer_2 - no_errors KIAA0355 9710 broad.mit.edu 36 19 39510787 39510787 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 39510787 39510787 C G SNP KIAA0355 NM_014686 human genbank 54_36p 1 validated missense c.995 p.P332R 1 NULL NULL - no_errors KIAA0355 9710 broad.mit.edu 36 19 39525116 39525116 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 39525116 39525116 C T SNP KIAA0355 NM_014686 human genbank 54_36p 1 validated missense c.2437 p.P813S 1 NULL NULL - no_errors GPI 2821 broad.mit.edu 36 19 39579083 39579083 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 39579083 39579083 C G SNP GPI NM_000175 human genbank 54_36p 1 reviewed missense c.1100 p.S367C 0.05 "HMMPfam_PGI,superfamily_SSF53697" "HMMPfam_PGI,PatternScan_P_GLUCOSE_ISOMERASE_2,PatternScan_P_GLUCOSE_ISOMERASE_1,superfamily_SSF53697" - no_errors PDCD2L 84306 broad.mit.edu 36 19 39592050 39592050 + Missense_Mutation SNP C C G rs61740326 Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 39592050 39592050 C G SNP PDCD2L NM_032346 human genbank 54_36p 1 provisional missense c.481 p.R161G 0.17 NULL HMMPfam_PDCD2_C - no_errors ZNF181 339318 broad.mit.edu 36 19 39923763 39923763 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 39923763 39923763 A G SNP ZNF181 NM_001029997 human genbank 54_36p 1 validated missense c.445 p.N149D 0.09 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF181 339318 broad.mit.edu 36 19 39923917 39923917 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 39923917 39923917 C G SNP ZNF181 NM_001029997 human genbank 54_36p 1 validated missense c.599 p.P200R 0.99 superfamily_SSF57667 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF30 90075 broad.mit.edu 36 19 40127079 40127079 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40127079 40127079 G A SNP ZNF30 NM_001099437 human genbank 54_36p 1 validated missense c.1372 p.E458K 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SCN1B 6324 broad.mit.edu 36 19 40216445 40216445 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40216445 40216445 G A SNP SCN1B NM_199037 human genbank 54_36p 1 validated missense c.410 p.S137N 1 NULL "superfamily_SSF48726,HMMPfam_ig" - no_errors HPN 3249 broad.mit.edu 36 19 40243141 40243141 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 40243141 40243141 A C SNP HPN NM_002151 human genbank 54_36p 1 provisional missense c.505 p.T169P 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "PatternScan_SRCR_1,HMMPfam_Hepsin-SRCR,superfamily_Srcr_receptor,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors HPN 3249 broad.mit.edu 36 19 40248371 40248371 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 40248371 40248371 C G SNP HPN NM_002151 human genbank 54_36p 1 provisional missense c.996 p.I332M 1 "HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys" "PatternScan_SRCR_1,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,HMMPfam_Hepsin-SRCR,superfamily_Srcr_receptor,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors CD22 933 broad.mit.edu 36 19 40520658 40520658 + Silent SNP G G A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40520658 40520658 G A SNP CD22 NM_001771 human genbank 54_36p 1 validated silent c.879 p.T293 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors CD22 933 broad.mit.edu 36 19 40520738 40520738 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40520738 40520738 C T SNP CD22 NM_001771 human genbank 54_36p 1 validated missense c.959 p.S320L 0.04 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors CD22 933 broad.mit.edu 36 19 40528449 40528449 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40528449 40528449 C G SNP CD22 NM_001771 human genbank 54_36p 1 validated missense c.2313 p.N771K 0 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors CD22 933 broad.mit.edu 36 19 40528939 40528939 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40528939 40528939 T A SNP CD22 NM_001771 human genbank 54_36p 1 validated missense c.2373 p.D791E 0.04 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors DMKN 93099 broad.mit.edu 36 19 40684629 40684629 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 40684629 40684629 G T SNP DMKN NM_001035516 human genbank 54_36p -1 reviewed missense c.17 p.A6D 0 NULL NULL - no_errors SBSN 374897 broad.mit.edu 36 19 40709533 40709533 + Silent SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40709533 40709533 C A SNP SBSN NM_198538 human genbank 54_36p -1 provisional silent c.462 p.G154 1 NULL NULL - no_errors MLL4 9757 broad.mit.edu 36 19 40903085 40903085 + Silent SNP T T C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 40903085 40903085 T C SNP uc010eei.1 ENST00000222270 human ensembl 54_36p 1 known silent c.996 p.H332 0.06 NULL "HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508" - no_errors MLL4 9757 broad.mit.edu 36 19 40904188 40904188 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 40904188 40904188 A G SNP uc010eei.1 ENST00000222270 human ensembl 54_36p 1 known missense c.2099 p.N700S 0.86 NULL "HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00508,HMMPfam_FYRN,HMMPfam_FYRC,superfamily_FYVE/PHD zinc finger,HMMPfam_AT_hook,HMMSmart_SM00542,HMMSmart_SM00541,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SET domain" - no_errors MLL4 9757 broad.mit.edu 36 19 40910339 40910339 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 40910339 40910339 G A SNP MLL4 NM_014727 human genbank 54_36p 1 reviewed nonsense c.4277 p.W1426* 0 NULL "HMMPfam_zf-CXXC,HMMPfam_AT_hook" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSENEN 55851 broad.mit.edu 36 19 40929549 40929549 + Silent SNP G G C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40929549 40929549 G C SNP PSENEN NM_172341 human genbank 54_36p 1 reviewed silent c.267 p.G89 1 HMMPfam_PEN-2 HMMPfam_PEN-2 - no_errors C19orf55 148137 broad.mit.edu 36 19 40942198 40942198 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 40942198 40942198 C A SNP C19orf55 NM_001039887 human genbank 54_36p 1 predicted missense c.95 p.T32N 0.01 NULL NULL - no_errors C19orf55 148137 broad.mit.edu 36 19 40947603 40947603 + Silent SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40947603 40947603 C T SNP C19orf55 NM_001039887 human genbank 54_36p 1 predicted silent c.552 p.H184 0 NULL NULL - no_errors PRODH2 58510 broad.mit.edu 36 19 40994993 40994993 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 40994993 40994993 G T SNP PRODH2 NM_021232 human genbank 54_36p -1 reviewed missense c.621 p.N207K 1 "HMMPfam_Pro_dh,superfamily_SSF51730" "HMMPfam_Pro_dh,superfamily_SSF51730" - no_errors NPHS1 4868 broad.mit.edu 36 19 41034313 41034313 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 41034313 41034313 C A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated missense c.160 p.G54W 0.21 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors KIRREL2 84063 broad.mit.edu 36 19 41049062 41049062 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 41049062 41049062 G A SNP KIRREL2 NM_199180 human genbank 54_36p 1 validated missense c.1955 p.C652Y 0.98 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set" - no_errors APLP1 333 broad.mit.edu 36 19 41061911 41061911 + Silent SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 41061911 41061911 C G SNP APLP1 NM_001024807 human genbank 54_36p 1 reviewed silent c.1809 p.L603 0.99 HMMPfam_APP_amyloid ############################################################################################################################################################################################################################################################### - no_errors C19orf46 163183 broad.mit.edu 36 19 41189971 41189971 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 41189971 41189971 T C SNP C19orf46 NM_001039876 human genbank 54_36p -1 validated missense c.319 p.N107D 0.03 NULL HMMPfam_KASH - no_errors CLIP3 25999 broad.mit.edu 36 19 41200677 41200677 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 41200677 41200677 C T SNP CLIP3 NM_015526 human genbank 54_36p -1 provisional missense c.1240 p.A414T 0.23 superfamily_Cap-Gly domain "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors THAP8 199745 broad.mit.edu 36 19 41222196 41222196 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 41222196 41222196 G T SNP THAP8 NM_152658 human genbank 54_36p -1 provisional missense c.541 p.Q181K 0.93 NULL "HMMPfam_THAP,HMMSmart_DM3" - no_errors POLR2I 5438 broad.mit.edu 36 19 41297578 41297578 + Nonsense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 41297578 41297578 G C SNP POLR2I NM_006233 human genbank 54_36p -1 reviewed nonsense c.21 p.Y7* 1 NULL "superfamily_Zinc beta-ribbon,HMMPfam_RNA_POL_M_15KD,HMMSmart_SM00661,PatternScan_RNA_POL_M_15KD,HMMSmart_SM00440,PatternScan_ZF_TFIIS_1,PatternScan_IG_MHC" - no_errors ZNF565 147929 broad.mit.edu 36 19 41365855 41365855 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 41365855 41365855 C T SNP ZNF565 NM_001042474 human genbank 54_36p -1 validated missense c.853 p.G285S 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFP14 57677 broad.mit.edu 36 19 41524133 41524133 + Silent SNP A A G novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 41524133 41524133 A G SNP ZFP14 NM_020917 human genbank 54_36p -1 provisional silent c.435 p.I145 0.13 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF529 57711 broad.mit.edu 36 19 41730515 41730515 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 41730515 41730515 G A SNP ZNF529 NM_020951 human genbank 54_36p -1 validated missense c.470 p.T157I 0.02 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF567 163081 broad.mit.edu 36 19 41902406 41902406 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 41902406 41902406 T G SNP ZNF567 NM_152603 human genbank 54_36p 1 provisional missense c.847 p.C283G 0.99 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF345 25850 broad.mit.edu 36 19 42060336 42060336 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 42060336 42060336 A T SNP ZNF345 NM_003419 human genbank 54_36p 1 provisional missense c.764 p.E255V 1 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF585B 92285 broad.mit.edu 36 19 42369890 42369890 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 42369890 42369890 T C SNP ZNF585B NM_152279 human genbank 54_36p -1 provisional missense c.389 p.Y130C 0 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF383 163087 broad.mit.edu 36 19 42418782 42418782 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 42418782 42418782 G A SNP ZNF383 NM_152604 human genbank 54_36p 1 provisional missense c.198 p.M66I 0.33 HMMSmart_KRAB "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HKR1 284459 broad.mit.edu 36 19 42527429 42527429 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 42527429 42527429 G T SNP HKR1 NM_181786 human genbank 54_36p 1 provisional missense c.3 p.M1I 0.06 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors HKR1 284459 broad.mit.edu 36 19 42544976 42544976 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 42544976 42544976 C T SNP HKR1 NM_181786 human genbank 54_36p 1 provisional missense c.439 p.P147S 0 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF527 84503 broad.mit.edu 36 19 42571651 42571651 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 42571651 42571651 C T SNP ZNF527 NM_032453 human genbank 54_36p 1 validated missense c.860 p.S287L 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF570 148268 broad.mit.edu 36 19 42667854 42667854 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 42667854 42667854 C T SNP ZNF570 NM_144694 human genbank 54_36p 1 provisional missense c.1490 p.P497L 0.99 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF573 126231 broad.mit.edu 36 19 42922720 42922721 + Frame_Shift_Ins INS - G - novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 - - G G - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 42922720 42922721 - G INS ZNF573 NM_152360 human genbank 54_36p -1 provisional frame_shift_ins c.337_336 p.F112fs 0.295:0.213 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors DPF1 8193 broad.mit.edu 36 19 43394803 43394803 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 43394803 43394803 G T SNP DPF1 NM_004647 human genbank 54_36p -1 validated nonsense c.948 p.Y316* 1 "PatternScan_ZF_PHD_1,HMMSmart_SM00249,HMMPfam_PHD,superfamily_FYVE/PHD zinc finger" "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors KCNK6 9424 broad.mit.edu 36 19 43509738 43509738 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 43509738 43509738 C T SNP KCNK6 NM_004823 human genbank 54_36p 1 reviewed missense c.797 p.T266M 0.84 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" - no_errors CATSPERG 57828 broad.mit.edu 36 19 43553175 43553175 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 43553175 43553175 C T SNP C19orf15 NM_021185 human genbank 54_36p 1 validated missense c.2303 p.S768F 0.06 NULL NULL - no_errors RYR1 6261 broad.mit.edu 36 19 43624902 43624902 + Missense_Mutation SNP T T A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 43624902 43624902 T A SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.239 p.M80K 1 HMMPfam_Ins145_P3_rec "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR1 6261 broad.mit.edu 36 19 43672619 43672619 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 43672619 43672619 G T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.5878 p.A1960S 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR1 6261 broad.mit.edu 36 19 43707977 43707977 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 43707977 43707977 G A SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.10621 p.A3541T 0.97 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR1 6261 broad.mit.edu 36 19 43710877 43710877 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 43710877 43710877 C T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.10916 p.T3639M 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR1 6261 broad.mit.edu 36 19 43715185 43715185 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 43715185 43715185 A G SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.11228 p.E3743G 0.95 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR1 6261 broad.mit.edu 36 19 43755730 43755730 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 43755730 43755730 A T SNP RYR1 NM_000540 human genbank 54_36p 1 reviewed missense c.14072 p.E4691V 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors MAP4K1 11184 broad.mit.edu 36 19 43770262 43770262 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 43770262 43770262 G A SNP MAP4K1 NM_001042600 human genbank 54_36p -1 validated missense c.2432 p.P811L 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_CNH,HMMPfam_CNH" - no_errors ACTN4 81 broad.mit.edu 36 19 43896990 43896990 + Silent SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 43896990 43896990 C A SNP ACTN4 NM_004924 human genbank 54_36p 1 reviewed silent c.861 p.V287 1 superfamily_Spectrin "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_efhand_Ca_insen" - no_errors ECH1 1891 broad.mit.edu 36 19 44013967 44013967 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44013967 44013967 T C SNP ECH1 NM_001398 human genbank 54_36p -1 reviewed missense c.82 p.S28G 0 NULL "superfamily_SSF52096,HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE" - no_errors FBXO27 126433 broad.mit.edu 36 19 44209477 44209477 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44209477 44209477 G T SNP FBXO27 NM_178820 human genbank 54_36p -1 provisional missense c.581 p.A194D 0.98 "HMMPfam_FBA,superfamily_Gal_bind_like" "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,HMMPfam_FBA,superfamily_Gal_bind_like" - no_errors NCCRP1 342897 broad.mit.edu 36 19 44381652 44381652 + Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44381652 44381652 G C SNP NCCRP1 NM_001001414 human genbank 54_36p 1 provisional missense c.455 p.W152S 1 "HMMPfam_FBA,superfamily_Gal_bind_like" "HMMPfam_FBA,superfamily_Gal_bind_like" - no_errors IL28A 282616 broad.mit.edu 36 19 44451639 44451639 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44451639 44451639 C G SNP IL28A NM_172138 human genbank 54_36p 1 reviewed missense c.200 p.S67W 0 NULL NULL - no_errors LRFN1 57622 broad.mit.edu 36 19 44496512 44496512 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44496512 44496512 C T SNP LRFN1 NM_020862 human genbank 54_36p -1 validated silent c.1305 p.S435 0.78 "HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like" "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like" - no_errors SUPT5H 6829 broad.mit.edu 36 19 44635845 44635845 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44635845 44635845 G T SNP SUPT5H NM_003169 human genbank 54_36p 1 validated nonsense c.85 p.E29* 1 NULL "HMMPfam_Supt5,HMMSmart_SM00738,HMMSmart_SM00739,superfamily_Translation proteins SH3-like domain,HMMPfam_KOW" - no_errors TIMM50 92609 broad.mit.edu 36 19 44670651 44670651 + Silent SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44670651 44670651 C G SNP TIMM50 NM_001001563 human genbank 54_36p 1 validated silent c.1116 p.G372 0.95 "superfamily_SSF56784,HMMPfam_NIF,HMMSmart_CPDc" "superfamily_SSF56784,HMMPfam_NIF,HMMSmart_CPDc" - no_errors LGALS13 29124 broad.mit.edu 36 19 44787802 44787802 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 44787802 44787802 C T SNP LGALS13 NM_013268 human genbank 54_36p 1 reviewed silent c.237 p.D79 0 "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Gal-bind_lectin,HMMSmart_SM00276" "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Gal-bind_lectin,HMMSmart_SM00276" - no_errors DYRK1B 9149 broad.mit.edu 36 19 45011038 45011038 + Silent SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 45011038 45011038 G A SNP DYRK1B NM_004714 human genbank 54_36p -1 reviewed silent c.546 p.F182 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DYRK1B 9149 broad.mit.edu 36 19 45012486 45012486 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45012486 45012486 G C SNP DYRK1B NM_004714 human genbank 54_36p -1 reviewed missense c.394 p.Q132E 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors DYRK1B 9149 broad.mit.edu 36 19 45013011 45013011 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45013011 45013011 C G SNP DYRK1B NM_004714 human genbank 54_36p -1 reviewed missense c.216 p.Q72H 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors FBL 2091 broad.mit.edu 36 19 45023138 45023138 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45023138 45023138 C A SNP FBL NM_001436 human genbank 54_36p -1 reviewed missense c.140 p.G47V 0.15 NULL "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Fibrillarin,PatternScan_FIBRILLARIN" - no_errors FCGBP 8857 broad.mit.edu 36 19 45054635 45054635 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 45054635 45054635 C T SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.15275 p.R5092H 0.01 HMMPfam_C8 "HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC" - no_errors FCGBP 8857 broad.mit.edu 36 19 45058257 45058257 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45058257 45058257 G A SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.13817 p.A4606V 0.01 "HMMPfam_VWD,HMMSmart_VWD" "HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL" - no_errors FCGBP 8857 broad.mit.edu 36 19 45060257 45060257 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45060257 45060257 C T SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.12931 p.V4311I 0.5 HMMPfam_C8 "HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL" - no_errors FCGBP 8857 broad.mit.edu 36 19 45060417 45060417 + Silent SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45060417 45060417 G A SNP FCGBP NM_003890 human genbank 54_36p -1 validated silent c.12771 p.D4257 0.04 NULL "HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL" - no_errors FCGBP 8857 broad.mit.edu 36 19 45090281 45090282 + Missense_Mutation DNP CG CG AT novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 CG CG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45090281 45090282 CG AT DNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.6526_6525 p.D2176Y 0.000:0.000 "HMMPfam_VWD,HMMSmart_VWD" "HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL" - no_errors ZNF546 339327 broad.mit.edu 36 19 45205083 45205083 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45205083 45205083 C T SNP ZNF546 NM_178544 human genbank 54_36p 1 validated silent c.234 p.D78 0 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF546 339327 broad.mit.edu 36 19 45212801 45212801 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45212801 45212801 A T SNP ZNF546 NM_178544 human genbank 54_36p 1 validated missense c.1784 p.N595I 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors C19orf47 126526 broad.mit.edu 36 19 45520010 45520010 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45520010 45520010 C A SNP C19orf47 NM_178830 human genbank 54_36p -1 predicted missense c.687 p.K229N 1 NULL NULL - no_errors C19orf47 126526 broad.mit.edu 36 19 45526256 45526256 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45526256 45526256 G A SNP C19orf47 NM_178830 human genbank 54_36p -1 predicted missense c.253 p.P85S 1 NULL NULL - no_errors HIPK4 147746 broad.mit.edu 36 19 45587617 45587617 + Silent SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45587617 45587617 G A SNP HIPK4 NM_144685 human genbank 54_36p -1 provisional silent c.33 p.Y11 0.97 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PRX 57716 broad.mit.edu 36 19 45593631 45593631 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45593631 45593631 G A SNP PRX NM_181882 human genbank 54_36p -1 reviewed missense c.2468 p.A823V 0.02 NULL "HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228" - no_errors PRX 57716 broad.mit.edu 36 19 45594452 45594452 + Silent SNP C C T novel Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45594452 45594452 C T SNP PRX NM_181882 human genbank 54_36p -1 reviewed silent c.1647 p.P549 0.06 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors SPTBN4 57731 broad.mit.edu 36 19 45695272 45695272 + Silent SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45695272 45695272 C T SNP SPTBN4 NM_020971 human genbank 54_36p 1 reviewed silent c.705 p.S235 0.99 "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors SPTBN4 57731 broad.mit.edu 36 19 45730457 45730457 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45730457 45730457 G A SNP SPTBN4 NM_020971 human genbank 54_36p 1 reviewed missense c.4034 p.R1345Q 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like" - no_errors SPTBN4 57731 broad.mit.edu 36 19 45764084 45764084 + Silent SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45764084 45764084 C T SNP SPTBN4 NM_020971 human genbank 54_36p 1 reviewed silent c.6315 p.S2105 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like" - no_errors SHKBP1 92799 broad.mit.edu 36 19 45786835 45786835 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45786835 45786835 C T SNP SHKBP1 NM_138392 human genbank 54_36p 1 validated silent c.1500 p.Y500 1 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1" - no_errors NUMBL 9253 broad.mit.edu 36 19 45875163 45875163 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 45875163 45875163 C T SNP NUMBL NM_004756 human genbank 54_36p -1 validated missense c.544 p.E182K 1 "superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" "superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID,HMMPfam_NumbF" - no_errors ITPKC 80271 broad.mit.edu 36 19 45927036 45927036 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 45927036 45927036 C G SNP ITPKC NM_025194 human genbank 54_36p 1 provisional missense c.1345 p.L449V 1 "HMMPfam_IPK,superfamily_SSF56104" "HMMPfam_IPK,superfamily_SSF56104" - no_errors EGLN2 112398 broad.mit.edu 36 19 45998876 45998876 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45998876 45998876 C T SNP EGLN2 NM_053046 human genbank 54_36p 1 reviewed missense c.559 p.R187W 1 NULL "HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy" - no_errors EGLN2 112398 broad.mit.edu 36 19 46004333 46004333 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 46004333 46004333 G A SNP EGLN2 NM_053046 human genbank 54_36p 1 reviewed missense c.877 p.G293R 1 "HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702" "HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702" - no_errors CYP2A6 1548 broad.mit.edu 36 19 46042460 46042460 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 46042460 46042460 T G SNP CYP2A6 NM_000762 human genbank 54_36p -1 reviewed missense c.1219 p.N407H 0.08 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2A6 1548 broad.mit.edu 36 19 46044794 46044794 + Silent SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 46044794 46044794 G T SNP CYP2A6 NM_000762 human genbank 54_36p -1 reviewed silent c.657 p.L219 0.98 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2A7 1549 broad.mit.edu 36 19 46075089 46075089 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 46075089 46075089 C G SNP CYP2A7 NM_000764 human genbank 54_36p -1 reviewed missense c.1007 p.G336A 0.97 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2A7 1549 broad.mit.edu 36 19 46076681 46076681 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 46076681 46076681 G T SNP CYP2A7 NM_000764 human genbank 54_36p -1 reviewed missense c.655 p.L219I 0.98 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2A13 1553 broad.mit.edu 36 19 46286230 46286230 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 46286230 46286230 G A SNP CYP2A13 NM_000766 human genbank 54_36p 1 reviewed missense c.14 p.G5E 0.19 NULL "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2A13 1553 broad.mit.edu 36 19 46286716 46286716 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 46286716 46286716 C T SNP CYP2A13 NM_000766 human genbank 54_36p 1 reviewed missense c.223 p.P75S 0 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2A13 1553 broad.mit.edu 36 19 46287833 46287833 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 46287833 46287833 C G SNP CYP2A13 NM_000766 human genbank 54_36p 1 reviewed missense c.385 p.R129G 0.81 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2F1 1572 broad.mit.edu 36 19 46325669 46325669 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 46325669 46325669 T C SNP CYP2F1 NM_000774 human genbank 54_36p 1 reviewed missense c.1318 p.S440P 0.63 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors AXL 558 broad.mit.edu 36 19 46417207 46417207 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 46417207 46417207 T G SNP AXL NM_021913 human genbank 54_36p 1 reviewed missense c.70 p.C24G 0.03 NULL ############################################################################################################################################################################################################################################################### - no_errors CEACAM7 1087 broad.mit.edu 36 19 46879723 46879723 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 46879723 46879723 C T SNP CEACAM7 NM_006890 human genbank 54_36p -1 provisional nonsense c.539 p.W180* 0.01 "superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors CEACAM5 1048 broad.mit.edu 36 19 46915842 46915842 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D T T Unknown Unknown Somatic Phase_I Capture Capture Illumina GAIIx 19 46915842 46915842 T A SNP CEACAM5 NM_004363 human genbank 54_36p 1 validated missense c.1646 p.L549Q 0.07 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors LYPD4 147719 broad.mit.edu 36 19 47033123 47033123 + Silent SNP T T G novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47033123 47033123 T G SNP LYPD4 NM_173506 human genbank 54_36p -1 validated silent c.675 p.A225 0 NULL HMMPfam_UPAR_LY6 - no_errors CD79A 973 broad.mit.edu 36 19 47075547 47075547 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 47075547 47075547 C T SNP CD79A NM_001783 human genbank 54_36p 1 reviewed missense c.482 p.T161M 0.9 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ITAM,HMMSmart_SM00077" - no_errors ARHGEF1 9138 broad.mit.edu 36 19 47080381 47080381 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47080381 47080381 T A SNP ARHGEF1 NM_199002 human genbank 54_36p 1 reviewed missense c.7 p.S3T 0.7 NULL "HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH" - no_errors ATP1A3 478 broad.mit.edu 36 19 47164836 47164836 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 47164836 47164836 C A SNP ATP1A3 NM_152296 human genbank 54_36p -1 reviewed missense c.2760 p.Q920H 1 "superfamily_SSF81665,HMMPfam_Cation_ATPase_C" "HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C" - no_errors GRIK5 2901 broad.mit.edu 36 19 47261274 47261274 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47261274 47261274 C T SNP GRIK5 NM_002088 human genbank 54_36p -1 reviewed missense c.185 p.R62Q 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors POU2F2 5452 broad.mit.edu 36 19 47288114 47288114 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47288114 47288114 G T SNP POU2F2 NM_002698 human genbank 54_36p -1 validated missense c.1299 p.S433R 1 NULL "HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors POU2F2 5452 broad.mit.edu 36 19 47291605 47291605 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47291605 47291605 G A SNP POU2F2 NM_002698 human genbank 54_36p -1 validated missense c.838 p.R280W 1 superfamily_Homeodomain_like "HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,superfamily_Lambda_like_DNA,PatternScan_HOMEOBOX_1" - no_errors DEDD2 162989 broad.mit.edu 36 19 47405794 47405794 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47405794 47405794 G A SNP DEDD2 NM_133328 human genbank 54_36p -1 provisional missense c.487 p.R163W 1 NULL "superfamily_DEATH domain,HMMSmart_SM00031,HMMPfam_DED" - no_errors GSK3A 2931 broad.mit.edu 36 19 47426792 47426792 + Silent SNP G G A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47426792 47426792 G A SNP GSK3A NM_019884 human genbank 54_36p -1 validated silent c.1446 p.S482 0.99 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors GSK3A 2931 broad.mit.edu 36 19 47428573 47428573 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47428573 47428573 G C SNP GSK3A NM_019884 human genbank 54_36p -1 validated missense c.1200 p.H400Q 1 "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CIC 23152 broad.mit.edu 36 19 47482805 47482805 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47482805 47482805 G C SNP CIC NM_015125 human genbank 54_36p 1 validated missense c.110 p.W37S 1 NULL "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors CIC 23152 broad.mit.edu 36 19 47485319 47485319 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47485319 47485319 G C SNP CIC NM_015125 human genbank 54_36p 1 validated missense c.1281 p.Q427H 1 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box" - no_errors CIC 23152 broad.mit.edu 36 19 47490052 47490052 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47490052 47490052 C T SNP CIC NM_015125 human genbank 54_36p 1 validated missense c.4166 p.S1389F 1 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box" - no_errors PAFAH1B3 5050 broad.mit.edu 36 19 47493264 47493264 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47493264 47493264 G A SNP PAFAH1B3 NM_002573 human genbank 54_36p -1 reviewed missense c.502 p.R168W 0.56 "superfamily_SGNH hydrolase,HMMPfam_Lipase_GDSL" "superfamily_SGNH hydrolase,HMMPfam_Lipase_GDSL" - no_errors PRR19 284338 broad.mit.edu 36 19 47505840 47505840 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47505840 47505840 G C SNP PRR19 NM_199285 human genbank 54_36p 1 validated missense c.264 p.R88S 1 NULL NULL - no_errors MEGF8 1954 broad.mit.edu 36 19 47531122 47531122 + Silent SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47531122 47531122 G A SNP MEGF8 NM_001410 human genbank 54_36p 1 validated silent c.654 p.V218 1 superfamily_Gal_oxid_central ############################################################################################################################################################################################################################################################### - no_errors MEGF8 1954 broad.mit.edu 36 19 47546353 47546353 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47546353 47546353 C T SNP MEGF8 NM_001410 human genbank 54_36p 1 validated missense c.2512 p.R838W 1 HMMSmart_PSI ############################################################################################################################################################################################################################################################### - no_errors LIPE 3991 broad.mit.edu 36 19 47598919 47598919 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47598919 47598919 C T SNP LIPE NM_005357 human genbank 54_36p -1 reviewed missense c.2647 p.G883R 0.08 "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3" "HMMPfam_HSL_N,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_GDXG_HIS,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER" - no_errors CEACAM1 634 broad.mit.edu 36 19 47717295 47717295 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47717295 47717295 A C SNP CEACAM1 NM_001712 human genbank 54_36p -1 reviewed missense c.922 p.C308G 0.01 HMMSmart_SM00409 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CEACAM8 1088 broad.mit.edu 36 19 47785548 47785548 + Silent SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 47785548 47785548 G A SNP CEACAM8 NM_001816 human genbank 54_36p -1 validated silent c.604 p.L202 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors PSG1 5669 broad.mit.edu 36 19 48067793 48067793 + Silent SNP G G T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 48067793 48067793 G T SNP PSG1 NM_006905 human genbank 54_36p -1 provisional silent c.675 p.A225 0 "superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors PSG1 5669 broad.mit.edu 36 19 48067936 48067936 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 19 48067936 48067936 A T SNP PSG1 NM_006905 human genbank 54_36p -1 provisional missense c.532 p.Y178N 0.01 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors PSG7 5676 broad.mit.edu 36 19 48125533 48125533 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 48125533 48125533 G T SNP PSG7 NM_002783 human genbank 54_36p -1 reviewed missense c.610 p.L204I 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - pseudogene PSG11 5680 broad.mit.edu 36 19 48214999 48214999 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 48214999 48214999 G C SNP PSG11 NM_002785 human genbank 54_36p -1 validated missense c.472 p.P158A 0.01 "superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors PSG2 5670 broad.mit.edu 36 19 48277104 48277104 + Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 48277104 48277104 A T SNP PSG2 NM_031246 human genbank 54_36p -1 validated missense c.199 p.W67R 0.11 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2" - no_errors PSG4 5672 broad.mit.edu 36 19 48393988 48393988 + Splice_Site SNP C C G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 48393988 48393988 C G SNP PSG4 NM_002780 human genbank 54_36p -1 validated splice_site c.709+1 e3+1 0.73 - - - no_errors PSG9 5678 broad.mit.edu 36 19 48463817 48463818 + Frame_Shift_Ins INS - C - novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 - - C C - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 48463817 48463818 - C INS PSG9 NM_002784 human genbank 54_36p -1 validated frame_shift_ins c.389_388 p.E130fs 0.000:0.000 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors TEX101 83639 broad.mit.edu 36 19 48612233 48612233 + Silent SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 48612233 48612233 A T SNP TEX101 NM_031451 human genbank 54_36p 1 validated silent c.261 p.A87 0.93 NULL HMMPfam_UPAR_LY6 - no_errors IRGQ 126298 broad.mit.edu 36 19 48789034 48789034 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 48789034 48789034 T G SNP IRGQ NM_001007561 human genbank 54_36p -1 validated missense c.856 p.T286P 0 NULL NULL - no_errors KCNN4 3783 broad.mit.edu 36 19 48976695 48976695 + Silent SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 48976695 48976695 C T SNP KCNN4 NM_002250 human genbank 54_36p -1 reviewed silent c.159 p.S53 0.97 HMMPfam_SK_channel "HMMPfam_SK_channel,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_Small-conductance potassium channel,HMMPfam_CaMBD" - no_errors KCNN4 3783 broad.mit.edu 36 19 48976721 48976721 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 48976721 48976721 C T SNP KCNN4 NM_002250 human genbank 54_36p -1 reviewed missense c.133 p.E45K 0.99 HMMPfam_SK_channel "HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels" - no_errors ZNF45 7596 broad.mit.edu 36 19 49110073 49110073 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 49110073 49110073 C G SNP ZNF45 NM_003425 human genbank 54_36p -1 provisional missense c.1355 p.G452A 0.18 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF222 7673 broad.mit.edu 36 19 49227973 49227973 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 49227973 49227973 G T SNP ZNF222 NM_013360 human genbank 54_36p 1 validated missense c.306 p.Q102H 0 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF224 7767 broad.mit.edu 36 19 49302639 49302639 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 49302639 49302639 C G SNP ZNF224 NM_013398 human genbank 54_36p 1 provisional missense c.486 p.H162Q 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF234 10780 broad.mit.edu 36 19 49353580 49353580 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 49353580 49353580 C A SNP ZNF234 NM_006630 human genbank 54_36p 1 validated missense c.1571 p.A524D 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF227 7770 broad.mit.edu 36 19 49431520 49431520 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 49431520 49431520 A C SNP ZNF227 NM_182490 human genbank 54_36p 1 provisional missense c.1097 p.N366T 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF227 7770 broad.mit.edu 36 19 49431597 49431597 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 49431597 49431597 A G SNP ZNF227 NM_182490 human genbank 54_36p 1 provisional missense c.1174 p.S392G 0 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF235 9310 broad.mit.edu 36 19 49483755 49483755 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 49483755 49483755 A T SNP ZNF235 NM_004234 human genbank 54_36p -1 reviewed missense c.1673 p.L558H 0.89 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFP112 7771 broad.mit.edu 36 19 49523493 49523493 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 49523493 49523493 T C SNP ZFP112 NM_001083335 human genbank 54_36p -1 validated missense c.2675 p.E892G 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFP112 7771 broad.mit.edu 36 19 49523684 49523684 + Silent SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 49523684 49523684 T C SNP ZFP112 NM_001083335 human genbank 54_36p -1 validated silent c.2484 p.T828 0.94 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF285 26974 broad.mit.edu 36 19 49582595 49582595 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 49582595 49582595 C T SNP ZNF285A NM_152354 human genbank 54_36p -1 validated missense c.1652 p.R551H 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF180 7733 broad.mit.edu 36 19 49672811 49672811 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 49672811 49672811 G A SNP ZNF180 NM_013256 human genbank 54_36p -1 validated missense c.1727 p.P576L 0.99 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors BCL3 602 broad.mit.edu 36 19 49954678 49954678 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 49954678 49954678 C A SNP BCL3 NM_005178 human genbank 54_36p 1 reviewed missense c.1307 p.P436Q 0.92 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors CBLC 23624 broad.mit.edu 36 19 49976091 49976092 + Missense_Mutation DNP TG TG GA novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 49976091 49976092 TG GA DNP CBLC NM_012116 human genbank 54_36p 1 validated missense c.443_444 p.M148R 0.890:0.909 "HMMPfam_Cbl_N2,superfamily_EF-hand" "HMMPfam_Cbl_N,superfamily_N-terminal domain of cbl (N-cbl),HMMPfam_Cbl_N2,superfamily_EF-hand,HMMPfam_Cbl_N3,superfamily_SH2 domain,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors RELB 5971 broad.mit.edu 36 19 50217161 50217161 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 50217161 50217161 G A SNP RELB NM_006509 human genbank 54_36p 1 validated missense c.515 p.C172Y 0.96 "superfamily_P53_like_DNA_bnd,HMMPfam_RHD" "superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG" - no_errors PPP1R13L 10848 broad.mit.edu 36 19 50593124 50593124 + Silent SNP C C A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 50593124 50593124 C A SNP PPP1R13L NM_006663 human genbank 54_36p -1 validated silent c.177 p.P59 0 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors CD3EAP 10849 broad.mit.edu 36 19 50602266 50602266 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 50602266 50602266 G A SNP CD3EAP NM_012099 human genbank 54_36p 1 provisional missense c.97 p.E33K 1 NULL HMMPfam_RNA_polI_A34 - no_errors RTN2 6253 broad.mit.edu 36 19 50684556 50684556 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 50684556 50684556 C T SNP RTN2 NM_005619 human genbank 54_36p -1 reviewed missense c.1129 p.V377M 1 HMMPfam_Reticulon HMMPfam_Reticulon - no_errors RTN2 6253 broad.mit.edu 36 19 50689411 50689411 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 50689411 50689411 G C SNP RTN2 NM_005619 human genbank 54_36p -1 reviewed missense c.667 p.R223G 0.17 NULL HMMPfam_Reticulon - no_errors VASP 7408 broad.mit.edu 36 19 50713107 50713107 + Silent SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 50713107 50713107 C G SNP VASP NM_003370 human genbank 54_36p 1 reviewed silent c.258 p.R86 1 "HMMPfam_WH1,superfamily_SSF50729" "HMMPfam_WH1,superfamily_SSF50729,HMMPfam_VASP_tetra" - no_errors GPR4 2828 broad.mit.edu 36 19 50786019 50786019 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 50786019 50786019 T C SNP GPR4 NM_005282 human genbank 54_36p -1 validated missense c.946 p.M316V 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FBXO46 23403 broad.mit.edu 36 19 50907058 50907058 + Silent SNP C C T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 50907058 50907058 C T SNP FBXO46 NM_001080469 human genbank 54_36p -1 provisional silent c.1536 p.V512 1 "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256" - no_errors FBXO46 23403 broad.mit.edu 36 19 50907085 50907085 + Silent SNP G G A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 50907085 50907085 G A SNP FBXO46 NM_001080469 human genbank 54_36p -1 provisional silent c.1509 p.F503 1 "HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain" "HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain" - no_errors RSPH6A 81492 broad.mit.edu 36 19 51009836 51009837 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 51009836 51009837 CC AA DNP RSHL1 NM_030785 human genbank 54_36p -1 reviewed missense c.439_438 p.LG146FC 0.001:0.000 NULL HMMPfam_Radial_spoke - no_errors SYMPK 8189 broad.mit.edu 36 19 51030228 51030228 + Silent SNP C C T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 51030228 51030228 C T SNP SYMPK NM_004819 human genbank 54_36p -1 reviewed silent c.1341 p.K447 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors FOXA3 3171 broad.mit.edu 36 19 51067737 51067737 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 51067737 51067737 C T SNP FOXA3 NM_004497 human genbank 54_36p 1 reviewed missense c.634 p.R212C 1 "superfamily_SSF46785,HMMPfam_Fork_head" "HMMPfam_Fork_head_N,HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2,HMMPfam_HNF_C" - no_errors FOXA3 3171 broad.mit.edu 36 19 51067895 51067895 + Silent SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 51067895 51067895 C T SNP FOXA3 NM_004497 human genbank 54_36p 1 reviewed silent c.792 p.G264 0.02 NULL "HMMPfam_Fork_head,HMMSmart_FH,HMMPfam_Fork_head_N,PatternScan_FORK_HEAD_1,PatternScan_FORK_HEAD_2,HMMPfam_HNF_C,superfamily_SSF46785" - no_errors PGLYRP1 8993 broad.mit.edu 36 19 51214337 51214337 + Silent SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 51214337 51214337 C T SNP PGLYRP1 NM_005091 human genbank 54_36p -1 provisional silent c.590 p.*197 0.09 NULL "superfamily_Amidase_2,HMMSmart_PGRP,HMMSmart_Ami_2,HMMPfam_Amidase_2" - no_errors PGLYRP1 8993 broad.mit.edu 36 19 51214470 51214470 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 51214470 51214470 C G SNP PGLYRP1 NM_005091 human genbank 54_36p -1 provisional missense c.457 p.A153P 0.02 "HMMPfam_Amidase_2,HMMSmart_Ami_2,superfamily_Amidase_2,HMMSmart_PGRP" "HMMPfam_Amidase_2,HMMSmart_Ami_2,superfamily_Amidase_2,HMMSmart_PGRP" - no_errors PPP5C 5536 broad.mit.edu 36 19 51542232 51542233 + Frame_Shift_Ins INS - C - novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 51542232 51542233 - C INS PPP5C NM_006247 human genbank 54_36p 1 provisional frame_shift_ins c.39_40 p.R15fs 1.000:0.999 NULL "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE" - no_errors CCDC8 83987 broad.mit.edu 36 19 51607051 51607051 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 51607051 51607051 C G SNP CCDC8 NM_032040 human genbank 54_36p -1 validated missense c.857 p.G286A 0 NULL NULL - no_errors CALM3 808 broad.mit.edu 36 19 51804235 51804235 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 51804235 51804235 G C SNP CALM3 NM_005184 human genbank 54_36p 1 validated missense c.435 p.M145I 1 "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors PTGIR 5739 broad.mit.edu 36 19 51818885 51818885 + Silent SNP G G A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 51818885 51818885 G A SNP PTGIR NM_000960 human genbank 54_36p -1 reviewed silent c.438 p.F146 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors DACT3 147906 broad.mit.edu 36 19 51843780 51843780 + Silent SNP G G T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 51843780 51843780 G T SNP DACT3 NM_145056 human genbank 54_36p -1 validated silent c.1014 p.A338 1 NULL NULL - no_errors DACT3 147906 broad.mit.edu 36 19 51843806 51843806 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 51843806 51843806 C T SNP DACT3 NM_145056 human genbank 54_36p -1 validated missense c.988 p.G330R 0.98 NULL NULL - no_errors PRKD2 25865 broad.mit.edu 36 19 51876831 51876831 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 51876831 51876831 C G SNP PRKD2 NM_001079880 human genbank 54_36p -1 reviewed missense c.1986 p.L662F 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PRKD2 25865 broad.mit.edu 36 19 51899265 51899265 + Splice_Site SNP C C G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 51899265 51899265 C G SNP PRKD2 NM_001079880 human genbank 54_36p -1 reviewed splice_site c.889+1 e5+1 1 - - - no_errors GRLF1 2909 broad.mit.edu 36 19 52115114 52115115 + Missense_Mutation DNP CC CC TT novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52115114 52115115 CC TT DNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed missense c.1342_1343 p.P448F 1.000:0.997 HMMSmart_SM00441 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors GRLF1 2909 broad.mit.edu 36 19 52115528 52115528 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52115528 52115528 C T SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed nonsense c.1756 p.Q586* 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GRLF1 2909 broad.mit.edu 36 19 52115784 52115784 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 52115784 52115784 T A SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed missense c.2012 p.L671Q 0.8 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GRLF1 2909 broad.mit.edu 36 19 52116726 52116726 + Nonsense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52116726 52116726 C G SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed nonsense c.2954 p.S985* 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GRLF1 2909 broad.mit.edu 36 19 52117205 52117205 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52117205 52117205 C T SNP GRLF1 NM_004491 human genbank 54_36p 1 reviewed nonsense c.3433 p.R1145* 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ZC3H4 23211 broad.mit.edu 36 19 52261899 52261899 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52261899 52261899 C T SNP ZC3H4 NM_015168 human genbank 54_36p -1 validated missense c.3466 p.A1156T 0.68 NULL "HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1" - no_errors ZC3H4 23211 broad.mit.edu 36 19 52262365 52262365 + Silent SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52262365 52262365 C T SNP ZC3H4 NM_015168 human genbank 54_36p -1 validated silent c.3000 p.A1000 0.38 NULL "HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1" - no_errors ZC3H4 23211 broad.mit.edu 36 19 52262393 52262393 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52262393 52262393 T C SNP ZC3H4 NM_015168 human genbank 54_36p -1 validated missense c.2972 p.K991R 1 NULL "HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1" - no_errors ZC3H4 23211 broad.mit.edu 36 19 52285109 52285109 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52285109 52285109 G C SNP ZC3H4 NM_015168 human genbank 54_36p -1 validated missense c.670 p.L224V 1 NULL "HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1" - no_errors CCDC9 26093 broad.mit.edu 36 19 52466411 52466425 + In_Frame_Del DEL ACGAGGGGGAAGAGA - ACGAGGGGGAAGAGA novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D ACGAGGGGGAAGAGA ACGAGGGGGAAGAGA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 52466411 52466425 ACGAGGGGGAAGAGA - DEL CCDC9 NM_015603 human genbank 54_36p 1 validated in_frame_del c.1232_1246 p.ENEGE415in_frame_del 0.980:0.943:0.952:0.956:0.948:0.947:0.939:0.923:0.929:0.880:0.862:0.898:0.885:0.662:0.634 NULL NULL "(deletion:cds_exon[52466371,52466775])" no_errors DHX34 9704 broad.mit.edu 36 19 52548282 52548282 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52548282 52548282 A T SNP DHX34 NM_014681 human genbank 54_36p 1 reviewed missense c.155 p.Q52L 0.91 NULL "HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605,PatternScan_RUBREDOXIN" - no_errors DHX34 9704 broad.mit.edu 36 19 52548574 52548574 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52548574 52548574 T G SNP DHX34 NM_014681 human genbank 54_36p 1 reviewed missense c.447 p.F149L 0.36 HMMSmart_SM00487 "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,PatternScan_RUBREDOXIN,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DHX34 9704 broad.mit.edu 36 19 52562129 52562129 + Silent SNP A A C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52562129 52562129 A C SNP DHX34 NM_014681 human genbank 54_36p 1 reviewed silent c.1650 p.P550 0.08 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,PatternScan_RUBREDOXIN,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors SLC8A2 6543 broad.mit.edu 36 19 52627435 52627435 + Silent SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52627435 52627435 C T SNP SLC8A2 NM_015063 human genbank 54_36p -1 validated silent c.2190 p.T730 1 NULL "HMMPfam_Na_Ca_ex,HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors KPTN 11133 broad.mit.edu 36 19 52671749 52671749 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 52671749 52671749 G C SNP KPTN NM_007059 human genbank 54_36p -1 validated missense c.1034 p.S345W 0 NULL NULL - no_errors KPTN 11133 broad.mit.edu 36 19 52675858 52675858 + Silent SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52675858 52675858 G A SNP KPTN NM_007059 human genbank 54_36p -1 validated silent c.570 p.L190 1 NULL NULL - no_errors EHD2 30846 broad.mit.edu 36 19 52911793 52911793 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52911793 52911793 G T SNP EHD2 NM_014601 human genbank 54_36p 1 reviewed nonsense c.112 p.E38* 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1" - no_errors GLTSCR2 29997 broad.mit.edu 36 19 52940675 52940675 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52940675 52940675 G C SNP GLTSCR2 NM_015710 human genbank 54_36p 1 provisional missense c.47 p.S16T 0.19 NULL HMMPfam_Nop53 - no_errors TPRX1 284355 broad.mit.edu 36 19 52997077 52997078 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 52997077 52997078 GC AA DNP TPRX1 NM_198479 human genbank 54_36p -1 validated missense c.1003_1002 p.WP334CS 0.009:0.009 NULL NULL - no_errors PLA2G4C 8605 broad.mit.edu 36 19 53248188 53248188 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 53248188 53248188 G A SNP PLA2G4C NM_003706 human genbank 54_36p -1 provisional silent c.1458 p.Y486 0 "HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase" "HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_PLA2_B" - no_errors GRIN2D 2906 broad.mit.edu 36 19 53609175 53609175 + Splice_Site SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 53609175 53609175 G C SNP GRIN2D NM_000836 human genbank 54_36p 1 reviewed splice_site c.1200+1 e3+1 1 - - - no_errors GRIN2D 2906 broad.mit.edu 36 19 53616922 53616922 + Silent SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 53616922 53616922 G A SNP GRIN2D NM_000836 human genbank 54_36p 1 reviewed silent c.2160 p.K720 0.99 "superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan" "superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors GRIN2D 2906 broad.mit.edu 36 19 53616989 53616989 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 53616989 53616989 G A SNP GRIN2D NM_000836 human genbank 54_36p 1 reviewed missense c.2227 p.E743K 1 "HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850" "HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850" - no_errors GRWD1 83743 broad.mit.edu 36 19 53648089 53648089 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 53648089 53648089 G A SNP GRWD1 NM_031485 human genbank 54_36p 1 provisional missense c.1336 p.V446I 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CYTH2 9266 broad.mit.edu 36 19 53667472 53667472 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 53667472 53667472 G T SNP CYTH2 NM_017457 human genbank 54_36p 1 reviewed missense c.313 p.G105W 1 "superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222" "superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors LMTK3 114783 broad.mit.edu 36 19 53686180 53686180 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 53686180 53686180 C A SNP LMTK3 NM_001080434 human genbank 54_36p -1 provisional missense c.4450 p.A1484S 0.99 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors LMTK3 114783 broad.mit.edu 36 19 53686273 53686273 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 53686273 53686273 G A SNP LMTK3 NM_001080434 human genbank 54_36p -1 provisional missense c.4357 p.P1453S 0.99 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" - no_errors LMTK3 114783 broad.mit.edu 36 19 53692604 53692606 + Missense_Mutation TNP GGG GGG TTT novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W GGG GGG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 53692604 53692606 GGG TTT TNP LMTK3 NM_001080434 human genbank 54_36p -1 provisional missense c.3619_3621 p.P1207K 0.998:0.999:0.998 HMMSmart_SM00220 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP" - no_errors FAM83E 54854 broad.mit.edu 36 19 53808235 53808235 + Silent SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 53808235 53808235 C T SNP FAM83E NM_017708 human genbank 54_36p -1 validated silent c.207 p.A69 0 HMMPfam_DUF1669 "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors FUT1 2523 broad.mit.edu 36 19 53945323 53945323 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 53945323 53945323 G A SNP FUT1 NM_000148 human genbank 54_36p -1 reviewed missense c.1028 p.A343V 0.22 HMMPfam_Glyco_transf_11 HMMPfam_Glyco_transf_11 - no_errors PLEKHA4 57664 broad.mit.edu 36 19 54036374 54036374 + Silent SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54036374 54036374 C T SNP PLEKHA4 NM_020904 human genbank 54_36p -1 provisional silent c.1749 p.P583 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors DHDH 27294 broad.mit.edu 36 19 54131213 54131213 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 54131213 54131213 A T SNP DHDH NM_014475 human genbank 54_36p 1 reviewed missense c.315 p.E105D 1 "HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-bd" "HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-bd,superfamily_SSF55347,HMMPfam_GFO_IDH_MocA_C" - no_errors GYS1 2997 broad.mit.edu 36 19 54177339 54177339 + Silent SNP G G C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 54177339 54177339 G C SNP GYS1 NM_002103 human genbank 54_36p -1 provisional silent c.1047 p.L349 1 "HMMPfam_Glycogen_syn,superfamily_SSF53756" "HMMPfam_Glycogen_syn,superfamily_SSF53756" - no_errors GYS1 2997 broad.mit.edu 36 19 54180952 54180952 + Silent SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54180952 54180952 G A SNP GYS1 NM_002103 human genbank 54_36p -1 provisional silent c.645 p.A215 0.98 "HMMPfam_Glycogen_syn,superfamily_SSF53756" "HMMPfam_Glycogen_syn,superfamily_SSF53756" - no_errors HRC 3270 broad.mit.edu 36 19 54349106 54349106 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54349106 54349106 T C SNP HRC NM_002152 human genbank 54_36p -1 reviewed missense c.1201 p.S401G 0.35 NULL HMMPfam_Hist_rich_Ca-bd - no_errors TRPM4 54795 broad.mit.edu 36 19 54377841 54377876 + In_Frame_Del DEL CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT - CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 54377841 54377876 CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT - DEL TRPM4 NM_017636 human genbank 54_36p 1 provisional in_frame_del c.1458_1493 p.KAPALKGGAAEL487in_frame_del 0.028:0.028:0.016:0.003:0.002:0.006:0.001:0.000:0.001:0.002:0.030:0.108:0.099:0.093:0.001:0.001:0.006:0.007:0.006:0.003:0.002:0.001:0.000:0.000:0.000:0.000:0.004:0.000:0.000:0.000:0.000:0.001:0.001:0.002:0.003:0.005 NULL HMMPfam_Ion_trans "(deletion:cds_exon[54377647,54377991])" no_errors TEAD2 8463 broad.mit.edu 36 19 54554517 54554517 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54554517 54554517 C T SNP TEAD2 NM_003598 human genbank 54_36p -1 provisional missense c.284 p.R95Q 0.99 "HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1" "HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1" - no_errors FCGRT 2217 broad.mit.edu 36 19 54709057 54709057 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54709057 54709057 C G SNP FCGRT NM_004107 human genbank 54_36p 1 provisional missense c.180 p.S60R 0.75 "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain" "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors NOSIP 51070 broad.mit.edu 36 19 54751492 54751492 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 54751492 54751492 C T SNP NOSIP NM_015953 human genbank 54_36p -1 provisional missense c.728 p.G243E 1 superfamily_SSF57850 "superfamily_SSF57850,HMMPfam_U-box" - no_errors SCAF1 58506 broad.mit.edu 36 19 54846138 54846138 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 54846138 54846138 T A SNP SCAF1 NM_021228 human genbank 54_36p 1 provisional missense c.680 p.I227N 1 NULL NULL - no_errors IRF3 3661 broad.mit.edu 36 19 54858442 54858442 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54858442 54858442 G A SNP IRF3 NM_001571 human genbank 54_36p -1 validated missense c.307 p.P103S 1 "HMMSmart_IRF,superfamily_SSF46785,HMMPfam_IRF" "HMMSmart_IRF,superfamily_SSF46785,HMMPfam_IRF,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3" - no_errors PRMT1 3276 broad.mit.edu 36 19 54881708 54881708 + Silent SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 54881708 54881708 G A SNP PRMT1 NM_001536 human genbank 54_36p 1 validated silent c.945 p.T315 0.83 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors CPT1C 126129 broad.mit.edu 36 19 54905876 54905876 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54905876 54905876 A G SNP CPT1C NM_152359 human genbank 54_36p 1 provisional missense c.1816 p.T606A 1 "HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases" "superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2" - no_errors AP2A1 160 broad.mit.edu 36 19 54977629 54977629 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54977629 54977629 C G SNP AP2A1 NM_014203 human genbank 54_36p 1 reviewed missense c.309 p.N103K 1 "superfamily_ARM repeat,HMMPfam_Adaptin_N" "superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,HMMPfam_Alpha_adaptin_C,superfamily_Subdomain of clathrin and coatomer appendage domain" - no_errors AP2A1 160 broad.mit.edu 36 19 54987066 54987066 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 54987066 54987066 C T SNP AP2A1 NM_014203 human genbank 54_36p 1 reviewed missense c.536 p.S179L 1 "HMMPfam_Adaptin_N,superfamily_ARM repeat" "HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptin_C,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Subdomain of clathrin and coatomer appendage domain,superfamily_Clathrin adaptor appendage domain,superfamily_ARM repeat" - no_errors PTOV1 53635 broad.mit.edu 36 19 55049528 55049528 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55049528 55049528 G A SNP PTOV1 NM_017432 human genbank 54_36p 1 provisional silent c.225 p.G75 0.09 PatternScan_AA_TRNA_LIGASE_I PatternScan_AA_TRNA_LIGASE_I - no_errors PNKP 11284 broad.mit.edu 36 19 55057676 55057676 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55057676 55057676 G T SNP PNKP NM_007254 human genbank 54_36p -1 provisional missense c.867 p.D289E 0.98 "superfamily_SSF56784,HMMPfam_PNK3P" "superfamily_SMAD_FHA,superfamily_SSF56784,HMMPfam_PNK3P,superfamily_SSF52540" - no_errors IL4I1 259307 broad.mit.edu 36 19 55090198 55090198 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55090198 55090198 G C SNP IL4I1 NM_172374 human genbank 54_36p -1 reviewed missense c.370 p.R124G 0.49 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" - no_errors IL4I1 259307 broad.mit.edu 36 19 55091074 55091074 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55091074 55091074 G C SNP IL4I1 NM_172374 human genbank 54_36p -1 reviewed missense c.128 p.S43C 0.19 NULL "HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors SIGLEC11 114132 broad.mit.edu 36 19 55154478 55154478 + Silent SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55154478 55154478 C T SNP SIGLEC11 NM_052884 human genbank 54_36p -1 validated silent c.972 p.A324 0.06 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMPfam_I-set,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC" - no_errors SIGLEC11 114132 broad.mit.edu 36 19 55155811 55155811 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55155811 55155811 G C SNP SIGLEC11 NM_052884 human genbank 54_36p -1 validated missense c.234 p.N78K 0.05 "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIGLEC11 114132 broad.mit.edu 36 19 55155842 55155842 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55155842 55155842 G C SNP SIGLEC11 NM_052884 human genbank 54_36p -1 validated missense c.203 p.P68R 0 "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors ZNF473 25888 broad.mit.edu 36 19 55241592 55241592 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55241592 55241592 C T SNP ZNF473 NM_001006656 human genbank 54_36p 1 validated nonsense c.2080 p.R694* 0.96 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MYH14 79784 broad.mit.edu 36 19 55471160 55471160 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55471160 55471160 G T SNP MYH14 NM_001077186 human genbank 54_36p 1 reviewed missense c.3469 p.V1157L 0.06 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_tail_1,superfamily_Prefoldin" - no_errors POLD1 5424 broad.mit.edu 36 19 55604717 55604717 + Silent SNP G G T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55604717 55604717 G T SNP POLD1 NM_002691 human genbank 54_36p 1 validated silent c.2136 p.P712 0.98 "HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B" "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B" - no_errors POLD1 5424 broad.mit.edu 36 19 55610877 55610877 + Silent SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55610877 55610877 C T SNP POLD1 NM_002691 human genbank 54_36p 1 validated silent c.2802 p.A934 0.98 "HMMPfam_DNA_pol_B,superfamily_SSF56672" "HMMPfam_DNA_pol_B_exo,HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_RNaseH_fold,PatternScan_DNA_POLYMERASE_B,superfamily_SSF56672" - no_errors POLD1 5424 broad.mit.edu 36 19 55612996 55612996 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55612996 55612996 C G SNP POLD1 NM_002691 human genbank 54_36p 1 validated missense c.3304 p.P1102A 0.3 NULL "HMMPfam_DNA_pol_B_exo,HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_RNaseH_fold,PatternScan_DNA_POLYMERASE_B,superfamily_SSF56672" - no_errors MYBPC2 4606 broad.mit.edu 36 19 55650245 55650245 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55650245 55650245 G A SNP MYBPC2 NM_004533 human genbank 54_36p 1 validated missense c.2083 p.E695K 1 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2" - no_errors MYBPC2 4606 broad.mit.edu 36 19 55653989 55653989 + Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55653989 55653989 C A SNP MYBPC2 NM_004533 human genbank 54_36p 1 validated missense c.2509 p.P837T 1 "superfamily_FN_III-like,superfamily_SSF48726" "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726" - no_errors SYT3 84258 broad.mit.edu 36 19 55827455 55827455 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55827455 55827455 C A SNP SYT3 NM_032298 human genbank 54_36p -1 provisional missense c.574 p.G192W 0 NULL "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SHANK1 50944 broad.mit.edu 36 19 55907073 55907073 + Silent SNP C C A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 55907073 55907073 C A SNP SHANK1 NM_016148 human genbank 54_36p -1 validated silent c.903 p.L301 0.96 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_SH3_2" - no_errors CLEC11A 6320 broad.mit.edu 36 19 55920406 55920406 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 55920406 55920406 A C SNP CLEC11A NM_002975 human genbank 54_36p 1 reviewed missense c.842 p.H281P 0.99 "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors KLK2 3817 broad.mit.edu 36 19 56073550 56073550 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 56073550 56073550 C T SNP KLK2 NM_005551 human genbank 54_36p 1 validated missense c.709 p.P237S 0 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors KLK7 5650 broad.mit.edu 36 19 56172756 56172756 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 56172756 56172756 C T SNP KLK7 NM_005046 human genbank 54_36p -1 reviewed missense c.610 p.D204N 1 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER" "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors NKG7 4818 broad.mit.edu 36 19 56567015 56567015 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 56567015 56567015 G T SNP NKG7 NM_005601 human genbank 54_36p -1 validated missense c.430 p.L144I 0.08 HMMPfam_PMP22_Claudin "PatternScan_PMP22_2,HMMPfam_PMP22_Claudin,PatternScan_PMP22_1" - no_errors SIGLEC10 89790 broad.mit.edu 36 19 56609555 56609555 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 56609555 56609555 A C SNP SIGLEC10 NM_033130 human genbank 54_36p -1 validated missense c.1642 p.F548V 0.03 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC" - no_errors CEACAM18 729767 broad.mit.edu 36 19 56675630 56675631 + Frame_Shift_Del DEL AC - AC novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W AC AC - - AC AC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 56675630 56675631 AC - DEL CEACAM18 NM_001080405 human genbank 54_36p 1 provisional frame_shift_del c.467_468 p.N156fs 0.035:0.029 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "(deletion:cds_exon[56675399,56675746])" no_errors SIGLEC12 89858 broad.mit.edu 36 19 56693231 56693231 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 56693231 56693231 G C SNP SIGLEC12 NM_053003 human genbank 54_36p -1 reviewed missense c.1258 p.L420V 0.03 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_ig" - no_errors SIGLEC12 89858 broad.mit.edu 36 19 56694674 56694674 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 56694674 56694674 G A SNP SIGLEC12 NM_053003 human genbank 54_36p -1 reviewed missense c.917 p.T306M 0.22 "HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIGLEC12 89858 broad.mit.edu 36 19 56695389 56695389 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 56695389 56695389 C A SNP SIGLEC12 NM_033329 human genbank 54_36p -1 reviewed missense c.51 p.W17C 0 NULL "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726" - no_errors FPR2 2358 broad.mit.edu 36 19 56964209 56964209 + Silent SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 56964209 56964209 C G SNP FPR2 NM_001005738 human genbank 54_36p 1 validated silent c.486 p.L162 0.98 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FPR3 2359 broad.mit.edu 36 19 57019316 57019316 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 57019316 57019316 G T SNP FPR3 NM_002030 human genbank 54_36p 1 validated missense c.503 p.S168I 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ZNF615 284370 broad.mit.edu 36 19 57188208 57188208 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 57188208 57188208 A T SNP ZNF615 NM_198480 human genbank 54_36p -1 provisional missense c.1933 p.F645I 0.76 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PPP2R1A 5518 broad.mit.edu 36 19 57406487 57406487 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 57406487 57406487 A C SNP PPP2R1A NM_014225 human genbank 54_36p 1 reviewed missense c.433 p.T145P 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors PPP2R1A 5518 broad.mit.edu 36 19 57407794 57407794 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 57407794 57407794 C T SNP PPP2R1A NM_014225 human genbank 54_36p 1 reviewed missense c.547 p.R183W 1 "HMMPfam_HEAT,superfamily_ARM repeat" "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors ZNF610 162963 broad.mit.edu 36 19 57561365 57561365 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 57561365 57561365 G A SNP ZNF610 NM_173530 human genbank 54_36p 1 provisional missense c.922 p.V308I 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF611 81856 broad.mit.edu 36 19 57900299 57900299 + Silent SNP T T A novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 57900299 57900299 T A SNP ZNF611 NM_030972 human genbank 54_36p -1 provisional silent c.1821 p.S607 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,superfamily_Multiheme cytochromes" - no_errors ZNF468 90333 broad.mit.edu 36 19 58036158 58036158 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58036158 58036158 G C SNP ZNF468 NM_001008801 human genbank 54_36p -1 validated missense c.1201 p.H401D 0.52 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF321 399669 broad.mit.edu 36 19 58124377 58124377 + Missense_Mutation SNP A A T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58124377 58124377 A T SNP ZNF321 NM_203307 human genbank 54_36p -1 validated missense c.86 p.I29N 0 NULL NULL - no_errors ZNF415 55786 broad.mit.edu 36 19 58303482 58303494 + Frame_Shift_Del DEL TGATGTCTGAAGA - TGATGTCTGAAGA novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 TGATGTCTGAAGA TGATGTCTGAAGA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 58303482 58303494 TGATGTCTGAAGA - DEL ZNF415 NM_018355 human genbank 54_36p -1 validated frame_shift_del c.1628_1616 p.L539fs 0.006:0.007:0.008:0.006:0.005:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.007 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[58303442,58304973])" no_errors ZNF415 55786 broad.mit.edu 36 19 58311415 58311415 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58311415 58311415 A C SNP ZNF415 NM_018355 human genbank 54_36p -1 validated missense c.99 p.D33E 0.98 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF665 79788 broad.mit.edu 36 19 58360782 58360782 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 58360782 58360782 C A SNP ZNF665 NM_024733 human genbank 54_36p -1 provisional missense c.773 p.G258V 0.99 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF665 79788 broad.mit.edu 36 19 58361183 58361183 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58361183 58361183 T A SNP ZNF665 NM_024733 human genbank 54_36p -1 provisional missense c.372 p.R124S 0 NULL "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF765 91661 broad.mit.edu 36 19 58604051 58604051 + Silent SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58604051 58604051 G T SNP ZNF765 NM_001040185 human genbank 54_36p 1 provisional silent c.1431 p.R477 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF765 91661 broad.mit.edu 36 19 58604142 58604142 + Missense_Mutation SNP A A T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58604142 58604142 A T SNP ZNF765 NM_001040185 human genbank 54_36p 1 provisional missense c.1522 p.N508Y 0 "HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF761 388561 broad.mit.edu 36 19 58650172 58650172 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58650172 58650172 C A SNP ZNF761 NM_001008401 human genbank 54_36p 1 validated nonsense c.437 p.S146* 0 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Multiheme cytochromes" - no_errors ZNF331 55422 broad.mit.edu 36 19 58772204 58772204 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 58772204 58772204 G A SNP ZNF331 NM_001079906 human genbank 54_36p 1 validated missense c.578 p.G193E 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NLRP12 91662 broad.mit.edu 36 19 58993342 58993342 + Missense_Mutation SNP A A T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 58993342 58993342 A T SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed missense c.2894 p.L965Q 0.54 "superfamily_RNI-like,HMMSmart_SM00368" "HMMPfam_PAAD_DAPIN,superfamily_DEATH domain,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP12 91662 broad.mit.edu 36 19 59004776 59004776 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59004776 59004776 G C SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed missense c.1949 p.S650C 0.01 superfamily_RNI-like "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like" - no_errors MYADM 91663 broad.mit.edu 36 19 59069085 59069085 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 59069085 59069085 G A SNP MYADM NM_001020818 human genbank 54_36p 1 validated missense c.490 p.E164K 1 NULL HMMPfam_MARVEL - no_errors PRKCG 5582 broad.mit.edu 36 19 59086787 59086787 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59086787 59086787 G A SNP PRKCG NM_002739 human genbank 54_36p 1 reviewed missense c.577 p.D193N 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" ############################################################################################################################################################################################################################################################### - no_errors CACNG7 59284 broad.mit.edu 36 19 59137263 59137263 + Silent SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 59137263 59137263 C T SNP CACNG7 NM_031896 human genbank 54_36p 1 reviewed silent c.732 p.S244 0.82 NULL HMMPfam_PMP22_Claudin - no_errors CACNG6 59285 broad.mit.edu 36 19 59193315 59193315 + Nonsense_Mutation SNP C C A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 59193315 59193315 C A SNP CACNG6 NM_145814 human genbank 54_36p 1 reviewed nonsense c.342 p.C114* 1 NULL NULL - no_errors CACNG6 59285 broad.mit.edu 36 19 59207216 59207216 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59207216 59207216 G A SNP CACNG6 NM_145814 human genbank 54_36p 1 reviewed nonsense c.744 p.W248* 0.34 NULL NULL - no_errors CNOT3 4849 broad.mit.edu 36 19 59343873 59343873 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59343873 59343873 G T SNP CNOT3 NM_014516 human genbank 54_36p 1 validated missense c.1073 p.S358I 0.95 NULL "HMMPfam_Not3,HMMPfam_NOT2_3_5" - no_errors CNOT3 4849 broad.mit.edu 36 19 59349278 59349278 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59349278 59349278 G C SNP CNOT3 NM_014516 human genbank 54_36p 1 validated missense c.2052 p.Q684H 1 HMMPfam_NOT2_3_5 "HMMPfam_Not3,HMMPfam_NOT2_3_5" - no_errors RPS9 6203 broad.mit.edu 36 19 59403184 59403184 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59403184 59403184 C A SNP RPS9 NM_001013 human genbank 54_36p 1 reviewed missense c.514 p.R172S 1 HMMSmart_SM00363 "HMMPfam_Ribosomal_S4,superfamily_Alpha-L RNA-binding motif,PatternScan_RIBOSOMAL_S4,HMMPfam_S4,HMMSmart_SM00363" - no_errors LILRB3 11025 broad.mit.edu 36 19 59416352 59416352 + Silent SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59416352 59416352 G A SNP LILRB3 NM_001081450 human genbank 54_36p -1 reviewed silent c.1116 p.Y372 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors LILRA6 79168 broad.mit.edu 36 19 59436085 59436085 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59436085 59436085 C A SNP LILRA6 NM_024318 human genbank 54_36p -1 validated missense c.1135 p.A379S 0 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMPfam_ig,HMMSmart_IG" - no_errors LILRA6 79168 broad.mit.edu 36 19 59436170 59436170 + Nonsense_Mutation SNP A A C rs1052992 Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59436170 59436170 A C SNP LILRA6 NM_024318 human genbank 54_36p -1 validated nonsense c.1050 p.Y350* 0 "HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726" - no_errors LILRA6 79168 broad.mit.edu 36 19 59436745 59436745 + Silent SNP G G T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59436745 59436745 G T SNP LILRA6 NM_024318 human genbank 54_36p -1 validated silent c.729 p.L243 0.03 "HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726" - no_errors LILRB5 10990 broad.mit.edu 36 19 59448664 59448664 + Splice_Site SNP T T C novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59448664 59448664 T C SNP LILRB5 NM_001081442 human genbank 54_36p -1 reviewed splice_site c.1358-2 e9-2 0 - - - no_errors LILRA3 11026 broad.mit.edu 36 19 59495393 59495393 + Silent SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59495393 59495393 G T SNP LILRA3 NM_006865 human genbank 54_36p -1 provisional silent c.243 p.G81 0 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors LILRA5 353514 broad.mit.edu 36 19 59514739 59514739 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59514739 59514739 T C SNP LILRA5 NM_021250 human genbank 54_36p -1 reviewed missense c.469 p.N157D 0.05 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors LILRA1 11024 broad.mit.edu 36 19 59798208 59798208 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59798208 59798208 C T SNP LILRA1 NM_006863 human genbank 54_36p 1 provisional missense c.337 p.P113S 0.96 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors LILRB1 10859 broad.mit.edu 36 19 59836413 59836413 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 59836413 59836413 G A SNP LILRB1 NM_001081637 human genbank 54_36p 1 reviewed missense c.1093 p.D365N 0 "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors KIR3DL3 115653 broad.mit.edu 36 19 59938560 59938560 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 59938560 59938560 T G SNP KIR3DL3 NM_153443 human genbank 54_36p 1 reviewed missense c.978 p.I326M 0.02 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors KIR3DL1 3811 broad.mit.edu 36 19 60023210 60023210 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60023210 60023210 T G SNP KIR3DL1 NM_013289 human genbank 54_36p 1 reviewed missense c.586 p.Y196D 0.03 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig" - no_errors KIR3DL2 3812 broad.mit.edu 36 19 60069681 60069681 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60069681 60069681 A G SNP KIR3DL2 NM_006737 human genbank 54_36p 1 reviewed missense c.1150 p.N384D 0.12 NULL "superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig" - no_errors FCAR 2204 broad.mit.edu 36 19 60092891 60092891 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60092891 60092891 C T SNP FCAR NM_133274 human genbank 54_36p 1 reviewed missense c.604 p.R202C 0.01 NULL "superfamily_SSF48726,HMMSmart_IG" - no_errors NCR1 9437 broad.mit.edu 36 19 60112559 60112559 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 60112559 60112559 G A SNP NCR1 NM_004829 human genbank 54_36p 1 validated missense c.499 p.G167R 0 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors NLRP2 55655 broad.mit.edu 36 19 60204038 60204038 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60204038 60204038 C A SNP NLRP2 NM_017852 human genbank 54_36p 1 provisional missense c.3149 p.P1050H 0 superfamily_RNI-like "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors GP6 51206 broad.mit.edu 36 19 60217703 60217703 + Silent SNP C C T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60217703 60217703 C T SNP GP6 NM_001083899 human genbank 54_36p -1 validated silent c.1422 p.V474 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors RDH13 112724 broad.mit.edu 36 19 60248389 60248389 + Nonsense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 60248389 60248389 G C SNP RDH13 NM_138412 human genbank 54_36p -1 reviewed nonsense c.648 p.Y216* 1 superfamily_NAD(P)-binding Rossmann-fold domains "superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_ADH_SHORT" - no_errors EPS8L1 54869 broad.mit.edu 36 19 60289342 60289342 + Silent SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60289342 60289342 G A SNP EPS8L1 NM_133180 human genbank 54_36p 1 reviewed silent c.1620 p.L540 0 superfamily_SH3-domain "HMMSmart_SM00462,HMMPfam_PTB,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" - no_errors TNNT1 7138 broad.mit.edu 36 19 60340308 60340308 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60340308 60340308 C G SNP TNNT1 NM_003283 human genbank 54_36p -1 reviewed missense c.586 p.D196H 1 HMMPfam_Troponin HMMPfam_Troponin - no_errors C19orf51 352909 broad.mit.edu 36 19 60369533 60369533 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60369533 60369533 G A SNP C19orf51 NM_178837 human genbank 54_36p -1 validated missense c.202 p.P68S 1 NULL NULL - no_errors PTPRH 5794 broad.mit.edu 36 19 60401866 60401866 + Silent SNP C C T novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60401866 60401866 C T SNP PTPRH NM_002842 human genbank 54_36p -1 reviewed silent c.1647 p.R549 0.01 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRH 5794 broad.mit.edu 36 19 60403629 60403629 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 60403629 60403629 C A SNP PTPRH NM_002842 human genbank 54_36p -1 reviewed missense c.1207 p.A403S 0.89 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors PPP6R1 22870 broad.mit.edu 36 19 60439917 60439917 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60439917 60439917 C A SNP SAPS1 NM_014931 human genbank 54_36p -1 validated missense c.1894 p.A632S 1 NULL HMMPfam_SAPS - no_errors PPP6R1 22870 broad.mit.edu 36 19 60439947 60439947 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60439947 60439947 C T SNP SAPS1 NM_014931 human genbank 54_36p -1 validated missense c.1864 p.D622N 1 NULL HMMPfam_SAPS - no_errors BRSK1 84446 broad.mit.edu 36 19 60505999 60505999 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 60505999 60505999 G A SNP BRSK1 NM_032430 human genbank 54_36p 1 validated missense c.980 p.G327D 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BRSK1 84446 broad.mit.edu 36 19 60506867 60506867 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60506867 60506867 G T SNP BRSK1 NM_032430 human genbank 54_36p 1 validated missense c.1147 p.D383Y 1 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors ISOC2 79763 broad.mit.edu 36 19 60658221 60658221 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60658221 60658221 C T SNP ISOC2 NM_024710 human genbank 54_36p -1 validated missense c.532 p.E178K 1 "superfamily_Iscrsm_hydrolase,HMMPfam_Isochorismatase" "superfamily_Iscrsm_hydrolase,HMMPfam_Isochorismatase" - no_errors ZNF628 89887 broad.mit.edu 36 19 60684641 60684641 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60684641 60684641 G T SNP ZNF628 NM_033113 human genbank 54_36p 1 validated missense c.257 p.R86L 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF581 51545 broad.mit.edu 36 19 60847886 60847886 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 60847886 60847886 C A SNP ZNF581 NM_016535 human genbank 54_36p 1 validated missense c.137 p.S46Y 0 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NLRP11 204801 broad.mit.edu 36 19 60995521 60995521 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60995521 60995521 G A SNP NLRP11 NM_145007 human genbank 54_36p -1 validated missense c.2471 p.T824M 0 superfamily_RNI-like "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,PatternScan_CU2_MONOOXYGENASE_1,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP11 204801 broad.mit.edu 36 19 60999347 60999347 + Silent SNP C C G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60999347 60999347 C G SNP NLRP11 NM_145007 human genbank 54_36p -1 validated silent c.2253 p.L751 0 "HMMSmart_SM00368,superfamily_RNI-like" "PatternScan_CU2_MONOOXYGENASE_1,HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like" - no_errors NLRP11 204801 broad.mit.edu 36 19 60999429 60999429 + Splice_Site SNP C C A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 60999429 60999429 C A SNP NLRP11 NM_145007 human genbank 54_36p -1 validated splice_site c.2172-1 e5-1 0.01 - - - no_errors NLRP4 147945 broad.mit.edu 36 19 61061830 61061830 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 19 61061830 61061830 G A SNP NLRP4 NM_134444 human genbank 54_36p 1 validated missense c.1259 p.R420Q 0.05 NULL "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP4 147945 broad.mit.edu 36 19 61062166 61062166 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 61062166 61062166 A G SNP NLRP4 NM_134444 human genbank 54_36p 1 validated missense c.1595 p.H532R 0.07 NULL "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRP4 147945 broad.mit.edu 36 19 61062396 61062396 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 61062396 61062396 G T SNP NLRP4 NM_134444 human genbank 54_36p 1 validated missense c.1825 p.V609F 0.01 superfamily_RNI-like "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRP4 147945 broad.mit.edu 36 19 61065273 61065273 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 61065273 61065273 C T SNP NLRP4 NM_134444 human genbank 54_36p 1 validated missense c.2122 p.R708C 0 superfamily_RNI-like "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRP13 126204 broad.mit.edu 36 19 61128189 61128189 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 61128189 61128189 T G SNP NLRP13 NM_176810 human genbank 54_36p -1 validated missense c.344 p.Q115P 0.03 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1" - no_errors NLRP8 126205 broad.mit.edu 36 19 61155718 61155718 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 61155718 61155718 A C SNP NLRP8 NM_176811 human genbank 54_36p 1 provisional missense c.370 p.I124L 0.02 superfamily_DEATH domain "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP5 126206 broad.mit.edu 36 19 61230253 61230253 + Missense_Mutation SNP C C T rs45627733 Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 19 61230253 61230253 C T SNP NLRP5 NM_153447 human genbank 54_36p 1 reviewed missense c.785 p.T262M 0.02 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT" "superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368" - no_errors NLRP5 126206 broad.mit.edu 36 19 61230630 61230630 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 61230630 61230630 G A SNP NLRP5 NM_153447 human genbank 54_36p 1 reviewed missense c.1162 p.V388I 0 "HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NLRP5 126206 broad.mit.edu 36 19 61261588 61261588 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 61261588 61261588 G T SNP NLRP5 NM_153447 human genbank 54_36p 1 reviewed missense c.3413 p.G1138V 0.16 superfamily_RNI-like "HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ZSCAN5A 79149 broad.mit.edu 36 19 61425812 61425812 + Silent SNP T T A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 61425812 61425812 T A SNP ZSCAN5A NM_024303 human genbank 54_36p -1 provisional silent c.699 p.P233 0 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF582 147948 broad.mit.edu 36 19 61587438 61587438 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 61587438 61587438 C A SNP ZNF582 NM_144690 human genbank 54_36p -1 provisional missense c.1160 p.R387I 0.7 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF583 147949 broad.mit.edu 36 19 61626618 61626618 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 61626618 61626618 G A SNP ZNF583 NM_152478 human genbank 54_36p 1 provisional missense c.779 p.R260K 0.01 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF471 57573 broad.mit.edu 36 19 61728868 61728868 + Silent SNP G G A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 61728868 61728868 G A SNP ZNF471 NM_020813 human genbank 54_36p 1 validated silent c.1620 p.E540 1 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZFP28 140612 broad.mit.edu 36 19 61751016 61751016 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 61751016 61751016 C G SNP ZFP28 NM_020828 human genbank 54_36p 1 provisional missense c.456 p.I152M 0.94 "superfamily_Krueppel-associated_box,HMMSmart_KRAB" "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PEG3 5178 broad.mit.edu 36 19 62017826 62017826 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62017826 62017826 C A SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.3796 p.G1266C 0 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PEG3 5178 broad.mit.edu 36 19 62020629 62020629 + Silent SNP T T C novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 19 62020629 62020629 T C SNP PEG3 NM_006210 human genbank 54_36p -1 provisional silent c.993 p.A331 0.01 NULL "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors PEG3 5178 broad.mit.edu 36 19 62024923 62024923 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 62024923 62024923 G A SNP PEG3 NM_006210 human genbank 54_36p -1 provisional missense c.577 p.R193W 0.06 NULL "HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors USP29 57663 broad.mit.edu 36 19 62332686 62332686 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62332686 62332686 C A SNP USP29 NM_020903 human genbank 54_36p 1 validated missense c.831 p.D277E 0 NULL "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP29 57663 broad.mit.edu 36 19 62334010 62334010 + Nonsense_Mutation SNP A A T novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62334010 62334010 A T SNP USP29 NM_020903 human genbank 54_36p 1 validated nonsense c.2155 p.K719* 0 "HMMPfam_UCH,superfamily_SSF54001" "HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001" - no_errors DUXA 503835 broad.mit.edu 36 19 62362451 62362451 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62362451 62362451 A C SNP DUXA NM_001012729 human genbank 54_36p -1 validated missense c.188 p.F63C 1 "HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like" "HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1" - no_errors ZNF264 9422 broad.mit.edu 36 19 62416080 62416096 + Frame_Shift_Del DEL AAATATTTTGCCAGAGG - AAATATTTTGCCAGAGG novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 AAATATTTTGCCAGAGG AAATATTTTGCCAGAGG - - AAATATTTTGCCAGAGG AAATATTTTGCCAGAGG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 19 62416080 62416096 AAATATTTTGCCAGAGG - DEL ZNF264 NM_003417 human genbank 54_36p 1 validated frame_shift_del c.1803_1819 p.L604fs 0.003:0.004:0.001:0.000:0.000:0.003:0.006:0.005:0.001:0.001:0.004:0.011:0.006:0.001:0.001:0.000:0.000 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "(deletion:cds_exon[62414534,62416161])" no_errors ZNF547 284306 broad.mit.edu 36 19 62580982 62580982 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62580982 62580982 T G SNP ZNF547 NM_173631 human genbank 54_36p 1 validated missense c.826 p.F276V 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors ZNF548 100129081 broad.mit.edu 36 19 62602772 62602772 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62602772 62602772 C T SNP LOC100129081 XM_001718521 human genbank 54_36p -1 model missense c.178 p.V60I 0 NULL NULL - no_errors ZNF749 388567 broad.mit.edu 36 19 62647610 62647610 + Missense_Mutation SNP C C G novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62647610 62647610 C G SNP ZNF749 NM_001023561 human genbank 54_36p 1 provisional missense c.1282 p.H428D 0.39 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2" - no_errors ZNF773 374928 broad.mit.edu 36 19 62707958 62707958 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 19 62707958 62707958 C A SNP ZNF773 NM_198542 human genbank 54_36p 1 provisional missense c.155 p.A52D 0.73 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF549 256051 broad.mit.edu 36 19 62738325 62738325 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 62738325 62738325 G T SNP ZNF549 NM_153263 human genbank 54_36p 1 provisional missense c.35 p.G12V 0.79 superfamily_KRAB domain (Kruppel-associated box Pfam 01352) "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZSCAN4 201516 broad.mit.edu 36 19 62881095 62881095 + Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62881095 62881095 T G SNP ZSCAN4 NM_152677 human genbank 54_36p 1 validated missense c.398 p.V133G 0.91 HMMPfam_SCAN "HMMPfam_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF551 90233 broad.mit.edu 36 19 62891400 62891400 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62891400 62891400 G T SNP ZNF551 NM_138347 human genbank 54_36p 1 validated missense c.1897 p.G633W 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF671 79891 broad.mit.edu 36 19 62924791 62924791 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62924791 62924791 C A SNP ZNF671 NM_024833 human genbank 54_36p -1 validated missense c.475 p.A159S 0.06 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF776 284309 broad.mit.edu 36 19 62957005 62957005 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 62957005 62957005 G C SNP ZNF776 NM_173632 human genbank 54_36p 1 validated missense c.569 p.R190T 0.2 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF586 54807 broad.mit.edu 36 19 62982007 62982007 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 62982007 62982007 A G SNP ZNF586 ENST00000396150 human ensembl 54_36p 1 known missense c.113 p.E38G 0.8 NULL NULL - no_errors ZNF586 54807 broad.mit.edu 36 19 62982966 62982966 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 19 62982966 62982966 C T SNP ZNF586 NM_017652 human genbank 54_36p 1 validated missense c.1199 p.P400L 0.05 superfamily_SSF57667 "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZNF552 79818 broad.mit.edu 36 19 63011287 63011287 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T Unknown Unknown Somatic Phase_I Capture Capture Illumina GAIIx 19 63011287 63011287 T C SNP ZNF552 NM_024762 human genbank 54_36p -1 validated missense c.1157 p.E386G 0.95 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZSCAN1 284312 broad.mit.edu 36 19 63255711 63255711 + Silent SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 63255711 63255711 A T SNP ZSCAN1 NM_182572 human genbank 54_36p 1 validated silent c.507 p.A169 0.59 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF135 7694 broad.mit.edu 36 19 63271204 63271204 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 63271204 63271204 C T SNP ZNF135 NM_003436 human genbank 54_36p 1 provisional nonsense c.1540 p.R514* 0.84 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF274 10782 broad.mit.edu 36 19 63416303 63416303 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 63416303 63416303 G A SNP ZNF274 NM_133502 human genbank 54_36p 1 reviewed missense c.1943 p.R648K 0.98 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMPfam_SCAN" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF132 7691 broad.mit.edu 36 19 63636598 63636598 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 19 63636598 63636598 T G SNP ZNF132 NM_003433 human genbank 54_36p -1 validated missense c.2025 p.K675N 0.72 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF324B 388569 broad.mit.edu 36 19 63657489 63657489 + Silent SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 63657489 63657489 C T SNP ZNF324B NM_207395 human genbank 54_36p 1 validated silent c.204 p.T68 0 NULL "HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF324B 388569 broad.mit.edu 36 19 63658941 63658942 + Missense_Mutation DNP TC TC GT novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 63658941 63658942 TC GT DNP ZNF324B NM_207395 human genbank 54_36p 1 validated missense c.818_819 p.L273R 0.000:0.001 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors SLC27A5 10998 broad.mit.edu 36 19 63701781 63701781 + Silent SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 63701781 63701781 C A SNP SLC27A5 NM_012254 human genbank 54_36p -1 reviewed silent c.1986 p.L662 0.93 NULL "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors DEFB129 140881 broad.mit.edu 36 20 158247 158247 + Silent SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 158247 158247 C A SNP DEFB129 NM_080831 human genbank 54_36p 1 validated silent c.387 p.T129 0 NULL NULL - no_errors TRIB3 57761 broad.mit.edu 36 20 316679 316679 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 316679 316679 C G SNP TRIB3 NM_021158 human genbank 54_36p 1 reviewed missense c.25 p.P9A 0 NULL "superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors TRIB3 57761 broad.mit.edu 36 20 319976 319976 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 319976 319976 C G SNP TRIB3 NM_021158 human genbank 54_36p 1 reviewed missense c.337 p.R113G 0 superfamily_Kinase_like "superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors SRXN1 140809 broad.mit.edu 36 20 581635 581635 + Silent SNP G G C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 581635 581635 G C SNP SRXN1 NM_080725 human genbank 54_36p -1 provisional silent c.195 p.L65 0.95 HMMSmart_SM00470 HMMSmart_SM00470 - no_errors SCRT2 85508 broad.mit.edu 36 20 592519 592519 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 592519 592519 G T SNP SCRT2 NM_033129 human genbank 54_36p -1 validated missense c.720 p.F240L 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2" "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors SNPH 9751 broad.mit.edu 36 20 1233730 1233730 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 1233730 1233730 C T SNP SNPH NM_014723 human genbank 54_36p 1 reviewed nonsense c.517 p.Q173* 1 NULL NULL - no_errors SNPH 9751 broad.mit.edu 36 20 1234337 1234337 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 1234337 1234337 C G SNP SNPH NM_014723 human genbank 54_36p 1 reviewed missense c.1124 p.A375G 0 NULL NULL - no_errors SIRPG 55423 broad.mit.edu 36 20 1565038 1565038 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 1565038 1565038 A G SNP SIRPG NM_018556 human genbank 54_36p -1 reviewed missense c.544 p.W182R 0.94 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_C1-set,HMMSmart_SM00407" - no_errors SIRPA 140885 broad.mit.edu 36 20 1851108 1851108 + Missense_Mutation SNP G G A rs2422666 "by-cluster,by-frequency,by-hapmap" TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 1851108 1851108 G A SNP SIRPA NM_001040022 human genbank 54_36p 1 reviewed missense c.904 p.V302I 0 "superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C1-set,HMMSmart_IGc1" - no_errors TGM3 7053 broad.mit.edu 36 20 2268586 2268605 + Frame_Shift_Del DEL GCTGATGGTGGAGGGAAGCG - GCTGATGGTGGAGGGAAGCG novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 GCTGATGGTGGAGGGAAGCG GCTGATGGTGGAGGGAAGCG - - GCTGATGGTGGAGGGAAGCG GCTGATGGTGGAGGGAAGCG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 20 2268586 2268605 GCTGATGGTGGAGGGAAGCG - DEL TGM3 NM_003245 human genbank 54_36p 1 reviewed frame_shift_del c.1887_1906 p.L630fs 0.999:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.941:0.993:0.999:1.000:1.000 "HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains" "HMMPfam_Transglut_N,superfamily_E set domains,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" "(deletion:cds_exon[2268500,2268633])" no_errors TGM6 343641 broad.mit.edu 36 20 2346128 2346128 + Silent SNP C C G novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 2346128 2346128 C G SNP TGM6 NM_198994 human genbank 54_36p 1 validated silent c.1587 p.V529 0.92 "superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" "HMMPfam_Transglut_N,superfamily_E set domains,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" - no_errors TMC2 117532 broad.mit.edu 36 20 2553002 2553002 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 2553002 2553002 G A SNP TMC2 NM_080751 human genbank 54_36p 1 validated missense c.2266 p.A756T 0.96 NULL HMMPfam_TMC - no_errors NOP56 10528 broad.mit.edu 36 20 2584044 2584044 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 2584044 2584044 C T SNP NOP56 NM_006392 human genbank 54_36p 1 reviewed nonsense c.643 p.Q215* 1 "HMMPfam_NOSIC,superfamily_SSF89124" "HMMPfam_NOP5NT,HMMPfam_NOSIC,superfamily_SSF89124,HMMPfam_Nop" - no_errors NOP56 10528 broad.mit.edu 36 20 2584148 2584148 + Silent SNP G G A novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 2584148 2584148 G A SNP NOP56 NM_006392 human genbank 54_36p 1 reviewed silent c.747 p.R249 1 superfamily_SSF89124 "HMMPfam_Nop,HMMPfam_NOP5NT,HMMPfam_NOSIC,superfamily_SSF89124" - no_errors CPXM1 56265 broad.mit.edu 36 20 2726886 2726886 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 2726886 2726886 G A SNP CPXM1 NM_019609 human genbank 54_36p -1 reviewed nonsense c.502 p.Q168* 0.15 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C" ############################################################################################################################################################################################################################################################### - no_errors FAM113A 64773 broad.mit.edu 36 20 2767340 2767340 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 2767340 2767340 C T SNP FAM113A NM_022760 human genbank 54_36p -1 predicted missense c.496 p.V166M 0.9 superfamily_SGNH hydrolase superfamily_SGNH hydrolase - no_errors VPS16 64601 broad.mit.edu 36 20 2794086 2794086 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 2794086 2794086 A G SNP VPS16 NM_022575 human genbank 54_36p 1 reviewed missense c.2216 p.D739G 1 HMMPfam_Vps16_C "HMMPfam_Vps16_N,HMMPfam_Vps16_C" - no_errors UBOX5 22888 broad.mit.edu 36 20 3038781 3038781 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 3038781 3038781 T C SNP UBOX5 NM_014948 human genbank 54_36p -1 validated missense c.1597 p.S533G 1 superfamily_RING/U-box "superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00504,PatternScan_ZF_RING_1" - no_errors UBOX5 22888 broad.mit.edu 36 20 3050634 3050634 + Silent SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 3050634 3050634 C T SNP UBOX5 NM_014948 human genbank 54_36p -1 validated silent c.651 p.L217 0.11 NULL "HMMPfam_U-box,HMMSmart_SM00504,PatternScan_ZF_RING_1,superfamily_RING/U-box" - no_errors SLC4A11 83959 broad.mit.edu 36 20 3158863 3158863 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 3158863 3158863 C G SNP SLC4A11 NM_032034 human genbank 54_36p -1 validated missense c.1507 p.V503L 1 HMMPfam_HCO3_cotransp "superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp" - no_errors SLC4A11 83959 broad.mit.edu 36 20 3163474 3163474 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 3163474 3163474 A T SNP SLC4A11 NM_032034 human genbank 54_36p -1 validated missense c.203 p.F68Y 1 NULL "HMMPfam_HCO3_cotransp,superfamily_Phoshotransferase/anion transport protein" - no_errors ATRN 8455 broad.mit.edu 36 20 3526566 3526566 + Silent SNP T T A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 3526566 3526566 T A SNP ATRN NM_139321 human genbank 54_36p 1 reviewed silent c.3483 p.I1161 0.99 superfamily_EGF/Laminin ############################################################################################################################################################################################################################################################### - no_errors SIGLEC1 6614 broad.mit.edu 36 20 3620593 3620593 + Silent SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 20 3620593 3620593 G A SNP SIGLEC1 NM_023068 human genbank 54_36p -1 reviewed silent c.4287 p.N1429 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set" - no_errors SIGLEC1 6614 broad.mit.edu 36 20 3622093 3622093 + Splice_Site SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 3622093 3622093 C A SNP SIGLEC1 NM_023068 human genbank 54_36p -1 reviewed splice_site c.3508+1 e13+1 1 - - - no_errors SIGLEC1 6614 broad.mit.edu 36 20 3622892 3622892 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 20 3622892 3622892 C T SNP SIGLEC1 NM_023068 human genbank 54_36p -1 reviewed missense c.3232 p.A1078T 0.01 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors HSPA12B 116835 broad.mit.edu 36 20 3673632 3673632 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 3673632 3673632 G T SNP HSPA12B NM_052970 human genbank 54_36p 1 reviewed missense c.350 p.S117I 1 superfamily_SSF53067 "PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF53067" - no_errors CDC25B 994 broad.mit.edu 36 20 3729936 3729936 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 3729936 3729936 G T SNP CDC25B NM_021873 human genbank 54_36p 1 reviewed missense c.741 p.E247D 0.38 HMMPfam_M-inducer_phosp "HMMPfam_M-inducer_phosp,superfamily_Rhodanese/Cell cycle control phosphatase,HMMSmart_SM00450,HMMPfam_Rhodanese" - no_errors PROKR2 128674 broad.mit.edu 36 20 5230783 5230783 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 5230783 5230783 C T SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.1058 p.R353H 0.98 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PROKR2 128674 broad.mit.edu 36 20 5242722 5242722 + Silent SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 5242722 5242722 G A SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed silent c.294 p.S98 0.8 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors PROKR2 128674 broad.mit.edu 36 20 5242763 5242763 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 5242763 5242763 G A SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.253 p.R85C 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors RP5-1022P6.2 56261 broad.mit.edu 36 20 5476439 5476439 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 5476439 5476439 G A SNP RP5-1022P6.2 NM_019593 human genbank 54_36p -1 validated silent c.1887 p.R629 1 NULL "superfamily_CBD_4,HMMPfam_CBM_20,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD" - no_errors CRLS1 54675 broad.mit.edu 36 20 5960658 5960658 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 5960658 5960658 C G SNP CRLS1 NM_019095 human genbank 54_36p 1 validated missense c.661 p.R221G 1 HMMPfam_CDP-OH_P_transf "PatternScan_CDP_ALCOHOL_P_TRANSF,HMMPfam_CDP-OH_P_transf" - no_errors LRRN4 164312 broad.mit.edu 36 20 5980815 5980816 + Missense_Mutation DNP GA GA TC novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 5980815 5980816 GA TC DNP LRRN4 NM_152611 human genbank 54_36p -1 validated missense c.631_630 p.DL210EI 0.997:0.986 "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors PLCB1 23236 broad.mit.edu 36 20 8653336 8653336 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 8653336 8653336 G A SNP PLCB1 NM_015192 human genbank 54_36p 1 reviewed missense c.1615 p.E539K 1 "superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y" "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors PLCB1 23236 broad.mit.edu 36 20 8665739 8665739 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 8665739 8665739 G C SNP PLCB1 NM_015192 human genbank 54_36p 1 reviewed missense c.2108 p.G703A 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PLC-beta_C,HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand" - no_errors PLCB1 23236 broad.mit.edu 36 20 8717132 8717132 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 8717132 8717132 C A SNP PLCB1 NM_015192 human genbank 54_36p 1 reviewed missense c.3148 p.Q1050K 1 HMMPfam_PLC-beta_C "HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PLC-beta_C,HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand" - no_errors PLCB4 5332 broad.mit.edu 36 20 9294157 9294157 + Silent SNP A A C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 9294157 9294157 A C SNP PLCB4 NM_000933 human genbank 54_36p 1 reviewed silent c.499 p.R167 1 superfamily_SSF47473 "superfamily_SSF50729,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1154" - no_errors PLCB4 5332 broad.mit.edu 36 20 9388287 9388287 + Silent SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 9388287 9388287 A G SNP PLCB4 NM_000933 human genbank 54_36p 1 reviewed silent c.3042 p.K1014 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_PI-PLC-X,HMMSmart_PLCXc,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMPfam_DUF1154,HMMPfam_efhand_like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF47473,superfamily_SSF50729" - no_errors ANKRD5 63926 broad.mit.edu 36 20 9978770 9978770 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 9978770 9978770 T A SNP ANKRD5 NM_022096 human genbank 54_36p 1 validated missense c.1553 p.V518E 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_EF-hand" - no_errors JAG1 182 broad.mit.edu 36 20 10570147 10570147 + Silent SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 10570147 10570147 C T SNP JAG1 NM_000214 human genbank 54_36p -1 reviewed silent c.2877 p.A959 0.92 NULL "HMMPfam_MNNL,HMMPfam_DSL,HMMSmart_DSL,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,HMMPfam_EGF,superfamily_SSF57196,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_VWC" - no_errors ESF1 51575 broad.mit.edu 36 20 13704572 13704572 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 13704572 13704572 C G SNP ESF1 NM_016649 human genbank 54_36p -1 provisional missense c.982 p.G328R 1 NULL NULL - no_errors SEL1L2 80343 broad.mit.edu 36 20 13815034 13815034 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 13815034 13815034 G A SNP SEL1L2 NM_025229 human genbank 54_36p -1 validated missense c.800 p.T267M 1 NULL "HMMSmart_SEL1,superfamily_SSF81901,HMMPfam_Sel1" - no_errors KIF16B 55614 broad.mit.edu 36 20 16444271 16444271 + Silent SNP T T A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 16444271 16444271 T A SNP KIF16B NM_024704 human genbank 54_36p -1 validated silent c.270 p.A90 0.99 "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin" "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_LECTIN_LEGUME_BETA,superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" - no_errors PCSK2 5126 broad.mit.edu 36 20 17382520 17382520 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 17382520 17382520 C T SNP PCSK2 NM_002594 human genbank 54_36p 1 reviewed missense c.1019 p.T340I 1 "superfamily_Subtilisin-like,HMMPfam_Peptidase_S8" "superfamily_Protease propeptides/inhibitors,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Galactose-binding domain-like,HMMPfam_P_proprotein" - no_errors PCSK2 5126 broad.mit.edu 36 20 17382587 17382587 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 17382587 17382587 C G SNP PCSK2 NM_002594 human genbank 54_36p 1 reviewed missense c.1086 p.N362K 1 "HMMPfam_Peptidase_S8,superfamily_Subtilisin-like" "HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Subtilisin-like,HMMPfam_P_proprotein,superfamily_Galactose-binding domain-like,superfamily_Protease propeptides/inhibitors" - no_errors PCSK2 5126 broad.mit.edu 36 20 17394023 17394023 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 17394023 17394023 C T SNP PCSK2 NM_002594 human genbank 54_36p 1 reviewed missense c.1255 p.R419W 1 "HMMPfam_Peptidase_S8,superfamily_Subtilisin-like" "HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Subtilisin-like,HMMPfam_P_proprotein,superfamily_Galactose-binding domain-like,superfamily_Protease propeptides/inhibitors" - no_errors RRBP1 6238 broad.mit.edu 36 20 17589138 17589138 + Silent SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 17589138 17589138 G A SNP RRBP1 NM_001042576 human genbank 54_36p -1 reviewed silent c.15 p.D5 1 NULL HMMPfam_Rib_recp_KP_reg - no_errors CSRP2BP 57325 broad.mit.edu 36 20 18113251 18113251 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 18113251 18113251 G C SNP CSRP2BP NM_020536 human genbank 54_36p 1 reviewed missense c.1990 p.D664H 1 superfamily_Acyl_CoA_acyltransferase "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" - no_errors ZNF133 7692 broad.mit.edu 36 20 18245068 18245068 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 20 18245068 18245068 C A SNP ZNF133 NM_001083330 human genbank 54_36p 1 validated silent c.1570 p.R524 0 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_KRAB,superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors C20orf12 55184 broad.mit.edu 36 20 18377628 18377628 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 18377628 18377628 T C SNP C20orf12 NM_001099407 human genbank 54_36p -1 validated missense c.629 p.K210R 1 NULL "HMMSmart_ZnF_RBZ,HMMSmart_ANK,superfamily_ANK,HMMPfam_Ank" - no_errors DTD1 92675 broad.mit.edu 36 20 18524815 18524815 + Silent SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 18524815 18524815 G A SNP DTD1 NM_080820 human genbank 54_36p 1 reviewed silent c.300 p.E100 1 "superfamily_DTD-like (Pfam 02580),HMMPfam_Tyr_Deacylase" "superfamily_DTD-like (Pfam 02580),HMMPfam_Tyr_Deacylase" - no_errors RIN2 54453 broad.mit.edu 36 20 19818273 19818273 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 19818273 19818273 G T SNP RIN2 NM_018993 human genbank 54_36p 1 reviewed missense c.28 p.G10C 0.01 NULL "superfamily_SH2 domain,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314" - no_errors CRNKL1 51340 broad.mit.edu 36 20 19979249 19979249 + Silent SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 19979249 19979249 C T SNP CRNKL1 NM_016652 human genbank 54_36p -1 reviewed silent c.552 p.P184 0.47 NULL "HMMPfam_HAT,HMMSmart_SM00386,superfamily_TPR-like" - no_errors C20orf26 26074 broad.mit.edu 36 20 20180314 20180314 + Silent SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 20180314 20180314 C T SNP C20orf26 NM_015585 human genbank 54_36p 1 predicted silent c.2235 p.T745 0.1 superfamily_FAD/NAD(P)-binding domain "superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain" - no_errors C20orf26 26074 broad.mit.edu 36 20 20191721 20191721 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 20 20191721 20191721 A T SNP C20orf26 NM_015585 human genbank 54_36p 1 predicted missense c.2450 p.E817V 0.84 superfamily_FAD/NAD(P)-binding domain "superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain" - no_errors INSM1 3642 broad.mit.edu 36 20 20298306 20298306 + Silent SNP C C G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 20298306 20298306 C G SNP INSM1 NM_002196 human genbank 54_36p 1 reviewed silent c.1395 p.A465 1 NULL "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FOXA2 3170 broad.mit.edu 36 20 22511750 22511750 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 22511750 22511750 T G SNP FOXA2 NM_021784 human genbank 54_36p -1 reviewed missense c.112 p.N38H 1 HMMPfam_Fork_head_N "HMMPfam_Fork_head_N,HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2,HMMPfam_HNF_C" - no_errors THBD 7056 broad.mit.edu 36 20 22976780 22976780 + Silent SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 22976780 22976780 C T SNP THBD NM_000361 human genbank 54_36p -1 reviewed silent c.1362 p.V454 0.03 "PatternScan_EGF_CA,HMMPfam_EGF_CA,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181" "HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,HMMPfam_Tme5_EGF_like" - no_errors CST3 1471 broad.mit.edu 36 20 23563890 23563890 + Splice_Site SNP C C A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 23563890 23563890 C A SNP CST3 NM_000099 human genbank 54_36p -1 reviewed splice_site c.357+1 e2+1 1 - - - no_errors CST1 1469 broad.mit.edu 36 20 23679339 23679339 + Silent SNP A A G rs3188296 Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture ManualReview;Capture Illumina GAIIx 20 23679339 23679339 A G SNP CST1 NM_001898 human genbank 54_36p -1 reviewed silent c.165 p.Y55 0 "HMMSmart_SM00043,HMMPfam_Cystatin,superfamily_Cystatin/monellin" "HMMSmart_SM00043,HMMPfam_Cystatin,superfamily_Cystatin/monellin,PatternScan_CYSTATIN" - no_errors GGTLC1 92086 broad.mit.edu 36 20 23914531 23914531 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 23914531 23914531 C T SNP GGTLC1 NM_178311 human genbank 54_36p -1 reviewed missense c.385 p.G129R 1 HMMPfam_G_glu_transpept "HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE" - no_errors CST7 8530 broad.mit.edu 36 20 24885932 24885932 + Missense_Mutation SNP C C A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 24885932 24885932 C A SNP CST7 NM_003650 human genbank 54_36p 1 reviewed missense c.146 p.S49Y 0 NULL "HMMSmart_SM00043,HMMPfam_Cystatin,superfamily_Cystatin/monellin" - no_errors C20orf3 57136 broad.mit.edu 36 20 24897674 24897674 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 24897674 24897674 C T SNP C20orf3 NM_020531 human genbank 54_36p -1 validated missense c.895 p.E299K 1 superfamily_Calcium-dependent phosphotriesterase "superfamily_Calcium-dependent phosphotriesterase,HMMPfam_Str_synth" - no_errors ACSS1 84532 broad.mit.edu 36 20 24959592 24959592 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 24959592 24959592 T A SNP ACSS1 NM_032501 human genbank 54_36p -1 reviewed missense c.434 p.E145V 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors NINL 22981 broad.mit.edu 36 20 25446416 25446416 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 25446416 25446416 C T SNP NLP NM_025176 human genbank 54_36p -1 validated missense c.250 p.D84N 0.98 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors DEFB118 117285 broad.mit.edu 36 20 29424534 29424534 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 29424534 29424534 C A SNP DEFB118 NM_054112 human genbank 54_36p 1 provisional missense c.272 p.T91K 0 NULL NULL - no_errors MYLK2 85366 broad.mit.edu 36 20 29878309 29878309 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 29878309 29878309 T A SNP MYLK2 NM_033118 human genbank 54_36p 1 reviewed missense c.1131 p.H377Q 0.01 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TTLL9 164395 broad.mit.edu 36 20 29961352 29961352 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 29961352 29961352 G C SNP TTLL9 NM_001008409 human genbank 54_36p 1 provisional missense c.470 p.R157P 1 "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors TTLL9 164395 broad.mit.edu 36 20 29994413 29994413 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 29994413 29994413 C T SNP TTLL9 ENST00000375919 human ensembl 54_36p 1 known missense c.22 p.R8C 0.09 NULL NULL - no_start_codon KIF3B 9371 broad.mit.edu 36 20 30378311 30378311 + Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 30378311 30378311 G T SNP KIF3B NM_004798 human genbank 54_36p 1 reviewed nonsense c.1825 p.E609* 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors ASXL1 171023 broad.mit.edu 36 20 30420578 30420578 + Silent SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 30420578 30420578 C T SNP ASXL1 NM_015338 human genbank 54_36p 1 reviewed silent c.243 p.F81 1 NULL NULL - no_errors DNMT3B 1789 broad.mit.edu 36 20 30853861 30853861 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 30853861 30853861 G T SNP DNMT3B NM_006892 human genbank 54_36p 1 reviewed missense c.2155 p.V719L 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase" "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1" - no_errors SUN5 140732 broad.mit.edu 36 20 31041121 31041121 + Silent SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 31041121 31041121 G A SNP SPAG4L NM_080675 human genbank 54_36p -1 validated silent c.579 p.Y193 1 NULL HMMPfam_Sad1_UNC - no_errors BPIL1 80341 broad.mit.edu 36 20 31064363 31064363 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 31064363 31064363 C G SNP BPIL1 NM_025227 human genbank 54_36p 1 reviewed missense c.297 p.F99L 0.38 "superfamily_Bactericidal permeability-increasing protein BPI,HMMPfam_LBP_BPI_CETP" "superfamily_Bactericidal permeability-increasing protein BPI,HMMPfam_LBP_BPI_CETP,HMMSmart_SM00329,HMMPfam_LBP_BPI_CETP_C" - no_errors BPIL1 80341 broad.mit.edu 36 20 31065412 31065413 + Missense_Mutation DNP TG TG AA novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 31065412 31065413 TG AA DNP BPIL1 NM_025227 human genbank 54_36p 1 reviewed missense c.444_445 p.DG148ES 0.001:0.002 "HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI" "HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI" - no_errors BPIL1 80341 broad.mit.edu 36 20 31072044 31072044 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 31072044 31072044 G A SNP BPIL1 NM_025227 human genbank 54_36p 1 reviewed missense c.1184 p.G395D 0.99 "HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI" "HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI" - no_errors BPIL1 80341 broad.mit.edu 36 20 31072778 31072778 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 31072778 31072778 G A SNP BPIL1 NM_025227 human genbank 54_36p 1 reviewed missense c.1225 p.V409I 0.14 "HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI" "HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI" - no_errors BPIL3 128859 broad.mit.edu 36 20 31090413 31090413 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 31090413 31090413 C T SNP BPIL3 NM_174897 human genbank 54_36p 1 provisional missense c.884 p.A295V 0.76 "superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" "PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" - no_errors C20orf185 359710 broad.mit.edu 36 20 31108070 31108070 + Silent SNP T T C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 31108070 31108070 T C SNP C20orf185 NM_182658 human genbank 54_36p 1 provisional silent c.186 p.A62 0.13 "superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP" "PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C" - no_errors C20orf71 128861 broad.mit.edu 36 20 31269108 31269108 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 31269108 31269108 C A SNP C20orf71 NM_178466 human genbank 54_36p 1 validated missense c.105 p.D35E 0 superfamily_Bactericidal permeability-increasing protein BPI "superfamily_Bactericidal permeability-increasing protein BPI,HMMPfam_LBP_BPI_CETP" - no_errors CDK5RAP1 51654 broad.mit.edu 36 20 31424166 31424166 + Splice_Site SNP T T A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 31424166 31424166 T A SNP CDK5RAP1 NM_016408 human genbank 54_36p -1 reviewed splice_site c.1206-2 e9-2 1 - - - no_errors CDK5RAP1 51654 broad.mit.edu 36 20 31443648 31443648 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 31443648 31443648 G A SNP CDK5RAP1 NM_016408 human genbank 54_36p -1 reviewed missense c.505 p.R169W 0.18 HMMPfam_UPF0004 "HMMPfam_UPF0004,superfamily_Radical SAM enzymes,HMMSmart_SM00729,PatternScan_UPF0004,HMMPfam_Radical_SAM,HMMPfam_TRAM" - no_errors ZNF341 84905 broad.mit.edu 36 20 31835302 31835302 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 31835302 31835302 A G SNP ZNF341 NM_032819 human genbank 54_36p 1 validated missense c.1802 p.Y601C 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GGT7 2686 broad.mit.edu 36 20 32905997 32905997 + Silent SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 20 32905997 32905997 G A SNP GGT7 NM_178026 human genbank 54_36p -1 reviewed silent c.1317 p.L439 1 HMMPfam_G_glu_transpept HMMPfam_G_glu_transpept - no_errors GSS 2937 broad.mit.edu 36 20 32994031 32994031 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 32994031 32994031 G C SNP GSS NM_000178 human genbank 54_36p -1 reviewed missense c.412 p.P138A 0.85 "superfamily_SSF56059,HMMPfam_GSH_synth_ATP" "superfamily_SSF56059,HMMPfam_GSH_synth_ATP,HMMPfam_GSH_synthase,superfamily_PreATP-grasp-like" - no_errors MYH7B 57644 broad.mit.edu 36 20 33032158 33032158 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 33032158 33032158 A G SNP MYH7B NM_020884 human genbank 54_36p 1 validated missense c.585 p.I195M 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,PatternScan_THIOL_PROTEASE_HIS,superfamily_tRNA-binding arm,HMMPfam_Myosin_tail_1,superfamily_Prefoldin" - no_errors MYH7B 57644 broad.mit.edu 36 20 33048946 33048946 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 33048946 33048946 G C SNP MYH7B NM_020884 human genbank 54_36p 1 validated missense c.3715 p.A1239P 1 HMMPfam_Myosin_tail_1 "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH7B 57644 broad.mit.edu 36 20 33050327 33050327 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 33050327 33050327 A C SNP MYH7B NM_020884 human genbank 54_36p 1 validated missense c.4264 p.S1422R 1 HMMPfam_Myosin_tail_1 "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYH7B 57644 broad.mit.edu 36 20 33051880 33051880 + Missense_Mutation SNP G G C novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 33051880 33051880 G C SNP MYH7B NM_020884 human genbank 54_36p 1 validated missense c.5031 p.Q1677H 1 HMMPfam_Myosin_tail_1 "PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors FAM83C 128876 broad.mit.edu 36 20 33337974 33337974 + Silent SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 33337974 33337974 G T SNP FAM83C NM_178468 human genbank 54_36p -1 validated silent c.2022 p.T674 0.57 NULL "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors CEP250 11190 broad.mit.edu 36 20 33549214 33549214 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 33549214 33549214 T C SNP CEP250 NM_007186 human genbank 54_36p 1 reviewed missense c.3559 p.S1187P 0.05 NULL superfamily_Prefoldin - no_errors SPAG4 6676 broad.mit.edu 36 20 33668553 33668553 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 33668553 33668553 C G SNP SPAG4 NM_003116 human genbank 54_36p 1 reviewed missense c.386 p.P129R 0 NULL HMMPfam_Sad1_UNC - no_errors RBM12 10137 broad.mit.edu 36 20 33705462 33705462 + Silent SNP T T C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 33705462 33705462 T C SNP RBM12 NM_006047 human genbank 54_36p -1 reviewed silent c.1197 p.G399 0.98 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors RBM12 10137 broad.mit.edu 36 20 33705596 33705596 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 33705596 33705596 C T SNP RBM12 NM_006047 human genbank 54_36p -1 reviewed missense c.1063 p.D355N 1 "HMMSmart_SM00360,superfamily_RNA-binding domain RBD" "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors RBM39 9584 broad.mit.edu 36 20 33773163 33773163 + Silent SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 33773163 33773163 A G SNP RBM39 NM_184234 human genbank 54_36p -1 reviewed silent c.738 p.S246 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361" - no_errors PHF20 51230 broad.mit.edu 36 20 33990179 33990179 + Missense_Mutation SNP T T A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 33990179 33990179 T A SNP PHF20 NM_016436 human genbank 54_36p 1 validated missense c.2447 p.V816E 1 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors EPB41L1 2036 broad.mit.edu 36 20 34260898 34260898 + Silent SNP C C T novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 34260898 34260898 C T SNP EPB41L1 NM_012156 human genbank 54_36p 1 reviewed silent c.1743 p.G581 0.89 NULL "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD" - no_errors TGIF2 60436 broad.mit.edu 36 20 34653074 34653074 + Silent SNP C C T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 34653074 34653074 C T SNP TGIF2 NM_021809 human genbank 54_36p 1 reviewed silent c.540 p.F180 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors NDRG3 57446 broad.mit.edu 36 20 34715422 34715422 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 34715422 34715422 G T SNP NDRG3 NM_032013 human genbank 54_36p -1 validated missense c.1043 p.T348N 0.95 NULL "superfamily_alpha/beta-Hydrolases,HMMPfam_Ndr" - no_errors DSN1 79980 broad.mit.edu 36 20 34832691 34832691 + Silent SNP T T G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 34832691 34832691 T G SNP DSN1 NM_024918 human genbank 54_36p -1 reviewed silent c.354 p.T118 1 HMMPfam_Mis12_component HMMPfam_Mis12_component - no_errors C20orf117 140710 broad.mit.edu 36 20 34858719 34858719 + Silent SNP A A G novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 34858719 34858719 A G SNP C20orf117 NM_199181 human genbank 54_36p -1 predicted silent c.2748 p.L916 0.98 NULL NULL - no_errors C20orf117 140710 broad.mit.edu 36 20 34877221 34877221 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 34877221 34877221 C A SNP C20orf117 NM_199181 human genbank 54_36p -1 predicted missense c.1324 p.G442C 0.35 NULL NULL - no_errors C20orf117 140710 broad.mit.edu 36 20 34877606 34877606 + Silent SNP G G A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 34877606 34877606 G A SNP C20orf117 NM_199181 human genbank 54_36p -1 predicted silent c.939 p.H313 0.94 NULL NULL - no_errors C20orf117 140710 broad.mit.edu 36 20 34877701 34877701 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 34877701 34877701 C T SNP C20orf117 NM_199181 human genbank 54_36p -1 predicted missense c.844 p.E282K 1 NULL NULL - no_errors C20orf117 140710 broad.mit.edu 36 20 34901120 34901120 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 34901120 34901120 G C SNP C20orf117 NM_199181 human genbank 54_36p -1 predicted missense c.112 p.R38G 1 NULL NULL - no_errors C20orf118 140711 broad.mit.edu 36 20 34940984 34940984 + Silent SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 34940984 34940984 C T SNP C20orf118 NM_080628 human genbank 54_36p 1 predicted silent c.316 p.L106 1 "HMMSmart_TLDc,HMMPfam_TLD" "HMMSmart_TLDc,HMMPfam_TLD" - no_errors RBL1 5933 broad.mit.edu 36 20 35069252 35069252 + Silent SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 35069252 35069252 G A SNP RBL1 NM_002895 human genbank 54_36p -1 reviewed silent c.2847 p.Y949 0.92 superfamily_Cyclin-like "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385" - no_errors GHRH 2691 broad.mit.edu 36 20 35318268 35318268 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 35318268 35318268 A C SNP GHRH NM_021081 human genbank 54_36p -1 reviewed missense c.131 p.V44G 1 "PatternScan_GLUCAGON,HMMSmart_SM00070,HMMPfam_Hormone_2" "PatternScan_GLUCAGON,HMMSmart_SM00070,HMMPfam_Hormone_2" - no_errors CTNNBL1 56259 broad.mit.edu 36 20 35922122 35922122 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 35922122 35922122 G A SNP CTNNBL1 NM_030877 human genbank 54_36p 1 reviewed missense c.1565 p.R522Q 1 NULL "HMMPfam_DUF1716,superfamily_ARM repeat" - no_errors VSTM2L 128434 broad.mit.edu 36 20 36005858 36005858 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 36005858 36005858 C T SNP VSTM2L NM_080607 human genbank 54_36p 1 validated missense c.404 p.T135M 1 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" - no_errors TTI1 9675 broad.mit.edu 36 20 36073848 36073848 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 36073848 36073848 G C SNP KIAA0406 NM_014657 human genbank 54_36p -1 predicted missense c.1785 p.I595M 0.43 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors TTI1 9675 broad.mit.edu 36 20 36075196 36075196 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 36075196 36075196 G C SNP KIAA0406 NM_014657 human genbank 54_36p -1 predicted missense c.437 p.S146C 0.92 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors TGM2 7052 broad.mit.edu 36 20 36217890 36217890 + Missense_Mutation SNP T T G novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 36217890 36217890 T G SNP TGM2 NM_004613 human genbank 54_36p -1 reviewed missense c.206 p.Q69P 0.15 "superfamily_E set domains,HMMPfam_Transglut_N" "superfamily_E set domains,HMMPfam_Transglut_N,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C" - no_errors KIAA1755 85449 broad.mit.edu 36 20 36303401 36303401 + Silent SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 20 36303401 36303401 G A SNP KIAA1755 NM_001029864 human genbank 54_36p -1 predicted silent c.546 p.T182 0 NULL superfamily_Spectrin repeat - no_errors KIAA1755 85449 broad.mit.edu 36 20 36303610 36303610 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 36303610 36303610 C T SNP KIAA1755 NM_001029864 human genbank 54_36p -1 predicted missense c.337 p.E113K 0.63 NULL superfamily_Spectrin repeat - no_errors BPI 671 broad.mit.edu 36 20 36389418 36389418 + Silent SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 36389418 36389418 C T SNP BPI NM_001725 human genbank 54_36p 1 reviewed silent c.1188 p.S396 0 "HMMPfam_LBP_BPI_CETP_C,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2" "superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2" - no_errors LBP 3929 broad.mit.edu 36 20 36417215 36417215 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 36417215 36417215 G C SNP LBP NM_004139 human genbank 54_36p 1 reviewed missense c.580 p.E194Q 0.49 "superfamily_Bactericidal permeability-increasing protein BPI,HMMSmart_SM00328,HMMPfam_LBP_BPI_CETP" "superfamily_Bactericidal permeability-increasing protein BPI,PatternScan_LBP_BPI_CETP,HMMSmart_SM00328,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329" - no_errors FAM83D 81610 broad.mit.edu 36 20 37014238 37014238 + Silent SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 37014238 37014238 C T SNP FAM83D NM_030919 human genbank 54_36p 1 validated silent c.1509 p.S503 0.99 NULL "HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease,PatternScan_AA_TRNA_LIGASE_I" - no_errors FAM83D 81610 broad.mit.edu 36 20 37014368 37014368 + Nonsense_Mutation SNP G G T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 37014368 37014368 G T SNP FAM83D NM_030919 human genbank 54_36p 1 validated nonsense c.1639 p.E547* 0.23 NULL "PatternScan_AA_TRNA_LIGASE_I,HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease" - no_errors TOP1 7150 broad.mit.edu 36 20 39178373 39178373 + Silent SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 39178373 39178373 C G SNP TOP1 NM_003286 human genbank 54_36p 1 reviewed silent c.1749 p.G583 1 "superfamily_DNA breaking-rejoining enzymes,HMMSmart_SM00435,HMMPfam_Topoisom_I" ############################################################################################################################################################################################################################################################### - no_errors LPIN3 64900 broad.mit.edu 36 20 39410818 39410818 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 39410818 39410818 G C SNP LPIN3 NM_022896 human genbank 54_36p 1 validated missense c.434 p.R145P 0.39 NULL "HMMPfam_Lipin_N,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors LPIN3 64900 broad.mit.edu 36 20 39410832 39410832 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 39410832 39410832 C G SNP LPIN3 NM_022896 human genbank 54_36p 1 validated missense c.448 p.P150A 0.18 NULL "HMMPfam_Lipin_N,HMMPfam_LNS2,HMMSmart_SM00775,superfamily_HAD-like" - no_errors LPIN3 64900 broad.mit.edu 36 20 39420549 39420549 + Silent SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 39420549 39420549 C T SNP LPIN3 NM_022896 human genbank 54_36p 1 validated silent c.2364 p.N788 1 "HMMPfam_LNS2,HMMSmart_SM00775,superfamily_HAD-like" "HMMPfam_Lipin_N,HMMPfam_LNS2,HMMSmart_SM00775,superfamily_HAD-like" - no_errors EMILIN3 90187 broad.mit.edu 36 20 39423778 39423778 + Silent SNP G G C novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 39423778 39423778 G C SNP EMILIN3 NM_052846 human genbank 54_36p -1 validated silent c.1845 p.A615 1 NULL HMMPfam_EMI - no_errors CHD6 84181 broad.mit.edu 36 20 39553869 39553869 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 39553869 39553869 C T SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed missense c.1319 p.R440Q 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors TOX2 84969 broad.mit.edu 36 20 42008055 42008055 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 42008055 42008055 C A SNP TOX2 NM_001098798 human genbank 54_36p 1 validated missense c.89 p.A30E 0.49 NULL "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors HNF4A 3172 broad.mit.edu 36 20 42490438 42490438 + Silent SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 42490438 42490438 G A SNP HNF4A NM_000457 human genbank 54_36p 1 reviewed silent c.1179 p.L393 1 NULL "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors TTPAL 79183 broad.mit.edu 36 20 42542284 42542284 + Silent SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 42542284 42542284 C T SNP TTPAL NM_001039199 human genbank 54_36p 1 validated silent c.231 p.D77 0.96 "superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N" "superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,superfamily_CRAL_TRIO_C,HMMSmart_SEC14,HMMPfam_CRAL_TRIO" - no_errors ADA 100 broad.mit.edu 36 20 42684907 42684907 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 42684907 42684907 G A SNP ADA NM_000022 human genbank 54_36p -1 reviewed missense c.757 p.R253W 0.48 "superfamily_SSF51556,HMMPfam_A_deaminase" "superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE" - no_errors RIMS4 140730 broad.mit.edu 36 20 42818335 42818335 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 42818335 42818335 C G SNP RIMS4 NM_182970 human genbank 54_36p -1 validated missense c.664 p.E222Q 1 "superfamily_C2_CaLB,HMMSmart_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors RIMS4 140730 broad.mit.edu 36 20 42820154 42820154 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 20 42820154 42820154 G A SNP RIMS4 NM_182970 human genbank 54_36p -1 validated missense c.322 p.R108C 1 NULL "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors YWHAB 7529 broad.mit.edu 36 20 42966059 42966059 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 42966059 42966059 C G SNP YWHAB NM_003404 human genbank 54_36p 1 reviewed missense c.312 p.D104E 1 "superfamily_14-3-3 protein,HMMPfam_14-3-3,HMMSmart_SM00101" "superfamily_14-3-3 protein,HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,PatternScan_1433_2" - no_errors PABPC1L 80336 broad.mit.edu 36 20 42983785 42983785 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 42983785 42983785 A C SNP PABPC1L ENST00000217073 human ensembl 54_36p 1 known missense c.875 p.Q292P 1 superfamily_SSF54928 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_PABP_HYD,HMMPfam_PABP,HMMSmart_PolyA" - no_errors STK4 6789 broad.mit.edu 36 20 43137155 43137155 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 43137155 43137155 G A SNP STK4 NM_006282 human genbank 54_36p 1 reviewed missense c.1388 p.R463Q 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" - no_errors KCNS1 3787 broad.mit.edu 36 20 43160331 43160331 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 43160331 43160331 C A SNP KCNS1 NM_002251 human genbank 54_36p -1 reviewed missense c.496 p.A166S 0.01 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors WFDC5 149708 broad.mit.edu 36 20 43172775 43172775 + Silent SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 43172775 43172775 G A SNP WFDC5 NM_145652 human genbank 54_36p -1 reviewed silent c.141 p.D47 0.99 "superfamily_Elafin-like,HMMPfam_WAP,HMMSmart_SM00217" "superfamily_Elafin-like,HMMPfam_WAP,HMMSmart_SM00217,PatternScan_4_DISULFIDE_CORE" - no_errors MATN4 8785 broad.mit.edu 36 20 43366381 43366381 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 43366381 43366381 G A SNP MATN4 NM_003833 human genbank 54_36p -1 reviewed missense c.544 p.R182C 1 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_Matrilin_ccoil" - no_errors MATN4 8785 broad.mit.edu 36 20 43366781 43366781 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 43366781 43366781 G A SNP MATN4 NM_003833 human genbank 54_36p -1 reviewed silent c.144 p.F48 0.91 "HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300" "PatternScan_ASX_HYDROXYL,HMMPfam_VWA,HMMSmart_VWA,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_2,HMMPfam_Matrilin_ccoil,superfamily_SSF53300,superfamily_SSF57196" - no_errors RBPJL 11317 broad.mit.edu 36 20 43378933 43378933 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 43378933 43378933 G A SNP RBPJL NM_014276 human genbank 54_36p 1 reviewed missense c.1474 p.A492T 0 NULL "superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind,superfamily_Beta-trefoil,HMMPfam_Beta-trefoil,superfamily_Ig_E-set,HMMPfam_TIG" - no_errors DNTTIP1 116092 broad.mit.edu 36 20 43857488 43857488 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 43857488 43857488 A G SNP DNTTIP1 NM_052951 human genbank 54_36p 1 validated missense c.371 p.Q124R 1 NULL NULL - no_errors DNTTIP1 116092 broad.mit.edu 36 20 43863484 43863484 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 43863484 43863484 G T SNP DNTTIP1 NM_052951 human genbank 54_36p 1 validated nonsense c.478 p.G160* 1 NULL NULL - no_errors ZSWIM3 140831 broad.mit.edu 36 20 43940621 43940621 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 43940621 43940621 C T SNP ZSWIM3 NM_080752 human genbank 54_36p 1 validated missense c.2017 p.R673C 0.27 NULL "HMMPfam_MULE,HMMPfam_SWIM,HMMSmart_ZnF_PMZ" - no_errors PLTP 5360 broad.mit.edu 36 20 43971666 43971666 + Silent SNP A A C novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 43971666 43971666 A C SNP PLTP NM_006227 human genbank 54_36p -1 reviewed silent c.381 p.T127 0.01 "superfamily_Bactericidal permeability-increasing protein BPI,HMMSmart_SM00328,HMMPfam_LBP_BPI_CETP" "superfamily_Bactericidal permeability-increasing protein BPI,PatternScan_LBP_BPI_CETP,HMMSmart_SM00328,HMMPfam_LBP_BPI_CETP,HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329" - no_errors ZNF335 63925 broad.mit.edu 36 20 44025810 44025810 + Silent SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 44025810 44025810 C T SNP ZNF335 NM_022095 human genbank 54_36p -1 reviewed silent c.1329 p.R443 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF335 63925 broad.mit.edu 36 20 44030397 44030397 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 44030397 44030397 C G SNP ZNF335 NM_022095 human genbank 54_36p -1 reviewed missense c.454 p.V152L 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors SLC12A5 57468 broad.mit.edu 36 20 44111793 44111793 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 44111793 44111793 G A SNP SLC12A5 NM_020708 human genbank 54_36p 1 reviewed missense c.2138 p.G713D 1 NULL HMMPfam_AA_permease - no_errors CD40 958 broad.mit.edu 36 20 44184735 44184735 + Silent SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 20 44184735 44184735 G A SNP CD40 NM_001250 human genbank 54_36p 1 reviewed silent c.336 p.T112 0 "superfamily_TNF receptor-like,PatternScan_EGF_2,HMMSmart_SM00208" "superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2" - no_errors CDH22 64405 broad.mit.edu 36 20 44248709 44248709 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 44248709 44248709 C A SNP CDH22 NM_021248 human genbank 54_36p -1 reviewed missense c.1588 p.G530C 0.01 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH22 64405 broad.mit.edu 36 20 44275062 44275062 + Silent SNP C C T novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 44275062 44275062 C T SNP CDH22 NM_021248 human genbank 54_36p -1 reviewed silent c.1011 p.E337 0.99 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors ELMO2 63916 broad.mit.edu 36 20 44437793 44437793 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 44437793 44437793 T A SNP ELMO2 NM_133171 human genbank 54_36p -1 reviewed missense c.851 p.H284L 1 NULL "superfamily_ARM repeat,HMMPfam_ELMO_CED12,superfamily_PH domain-like" - no_errors ZNF334 55713 broad.mit.edu 36 20 44563870 44563870 + Silent SNP A A G novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 44563870 44563870 A G SNP ZNF334 NM_018102 human genbank 54_36p -1 validated silent c.1515 p.S505 0 superfamily_SSF57667 "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SLC2A10 81031 broad.mit.edu 36 20 44788315 44788315 + Silent SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 44788315 44788315 C T SNP SLC2A10 NM_030777 human genbank 54_36p 1 validated silent c.1233 p.T411 0 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1" - no_errors EYA2 2139 broad.mit.edu 36 20 45159136 45159136 + Silent SNP G G C novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 45159136 45159136 G C SNP EYA2 NM_172113 human genbank 54_36p 1 reviewed silent c.825 p.V275 1 HMMPfam_Hydrolase HMMPfam_Hydrolase - no_errors NCOA3 8202 broad.mit.edu 36 20 45698233 45698233 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 20 45698233 45698233 G T SNP NCOA3 NM_181659 human genbank 54_36p 1 reviewed missense c.1696 p.D566Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SULF2 55959 broad.mit.edu 36 20 45734476 45734476 + Silent SNP C C T novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 45734476 45734476 C T SNP SULF2 NM_018837 human genbank 54_36p -1 validated silent c.1449 p.L483 0 superfamily_Alkaline phosphatase-like "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1" - no_errors SULF2 55959 broad.mit.edu 36 20 45798887 45798887 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 45798887 45798887 C A SNP SULF2 NM_018837 human genbank 54_36p -1 validated missense c.382 p.A128S 1 "HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like" "HMMPfam_Sulfatase,PatternScan_SULFATASE_1,superfamily_Alkaline phosphatase-like" - no_errors PREX1 57580 broad.mit.edu 36 20 46738641 46738641 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 46738641 46738641 C T SNP PREX1 NM_020820 human genbank 54_36p -1 reviewed missense c.1295 p.R432Q 1 "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP" ############################################################################################################################################################################################################################################################### - no_errors PREX1 57580 broad.mit.edu 36 20 46758287 46758287 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 46758287 46758287 C A SNP PREX1 NM_020820 human genbank 54_36p -1 reviewed missense c.701 p.C234F 1 "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)" ############################################################################################################################################################################################################################################################### - no_errors CSE1L 1434 broad.mit.edu 36 20 47139278 47139278 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 47139278 47139278 G T SNP CSE1L NM_001316 human genbank 54_36p 1 reviewed missense c.1909 p.V637F 1 "superfamily_ARM repeat,HMMPfam_CAS_CSE1" "superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Cse1,HMMPfam_CAS_CSE1" - no_errors STAU1 6780 broad.mit.edu 36 20 47169963 47169963 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 47169963 47169963 G A SNP STAU1 NM_017453 human genbank 54_36p -1 reviewed missense c.1076 p.A359V 1 superfamily_dsRNA-binding domain-like "superfamily_dsRNA-binding domain-like,HMMSmart_SM00358,HMMPfam_dsrm" - no_errors STAU1 6780 broad.mit.edu 36 20 47174417 47174417 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 47174417 47174417 C T SNP STAU1 NM_017453 human genbank 54_36p -1 reviewed missense c.724 p.A242T 1 "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like" "HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like" - no_errors ZNFX1 57169 broad.mit.edu 36 20 47298610 47298610 + Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 47298610 47298610 A C SNP ZNFX1 NM_021035 human genbank 54_36p -1 validated missense c.4358 p.F1453C 0.58 HMMPfam_zf-NF-X1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_zf-NF-X1,HMMSmart_SM00438" - no_errors PTGIS 5740 broad.mit.edu 36 20 47563206 47563206 + Splice_Site SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 47563206 47563206 C T SNP PTGIS NM_000961 human genbank 54_36p -1 reviewed splice_site c.1025-1 e8-1 1 - - - no_errors PTGIS 5740 broad.mit.edu 36 20 47564290 47564290 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 47564290 47564290 T C SNP PTGIS NM_000961 human genbank 54_36p -1 reviewed missense c.905 p.N302S 1 "superfamily_Cytochrome_P450,HMMPfam_p450" "PatternScan_CYTOCHROME_P450,superfamily_Cytochrome_P450,HMMPfam_p450" - no_errors B4GALT5 9334 broad.mit.edu 36 20 47696935 47696935 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 47696935 47696935 G T SNP B4GALT5 NM_004776 human genbank 54_36p -1 validated missense c.338 p.T113N 0.9 superfamily_SSF53448 "superfamily_SSF53448,HMMPfam_Galactosyl_T_2" - no_errors SPATA2 9825 broad.mit.edu 36 20 47955616 47955616 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 47955616 47955616 T G SNP SPATA2 NM_006038 human genbank 54_36p -1 validated missense c.1510 p.N504H 1 NULL NULL - no_errors SNAI1 6615 broad.mit.edu 36 20 48033829 48033829 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 48033829 48033829 G C SNP SNAI1 NM_005985 human genbank 54_36p 1 reviewed missense c.144 p.E48D 1 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors SNAI1 6615 broad.mit.edu 36 20 48037849 48037849 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 48037849 48037849 G A SNP SNAI1 NM_005985 human genbank 54_36p 1 reviewed missense c.644 p.R215H 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors FAM65C 140876 broad.mit.edu 36 20 48669995 48669995 + Silent SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 48669995 48669995 C T SNP FAM65C NM_080829 human genbank 54_36p -1 predicted silent c.192 p.S64 0 NULL NULL - no_errors BCAS4 55653 broad.mit.edu 36 20 48926541 48926541 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 48926541 48926541 C T SNP BCAS4 NM_198799 human genbank 54_36p 1 validated missense c.601 p.R201W 0 NULL NULL - no_errors ADNP 23394 broad.mit.edu 36 20 48952048 48952048 + Silent SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 48952048 48952048 A G SNP ADNP NM_015339 human genbank 54_36p -1 reviewed silent c.114 p.F38 1 NULL "PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors DPM1 8813 broad.mit.edu 36 20 49008446 49008446 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 49008446 49008446 G T SNP DPM1 NM_003859 human genbank 54_36p -1 reviewed missense c.22 p.R8S 0 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2" - no_errors KCNG1 100128598 broad.mit.edu 36 20 49059728 49059728 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 49059728 49059728 C T SNP LOC100128598 XM_001716142 human genbank 54_36p 1 model missense c.1207 p.L403F 1 NULL NULL - no_errors KCNG1 100128598 broad.mit.edu 36 20 49060031 49060031 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 49060031 49060031 G T SNP LOC100128598 XM_001716142 human genbank 54_36p 1 model nonsense c.1510 p.E504* 1 NULL NULL - no_errors ATP9A 10079 broad.mit.edu 36 20 49657506 49657506 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 49657506 49657506 A C SNP ATP9A NM_006045 human genbank 54_36p -1 validated missense c.2770 p.F924V 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP9A 10079 broad.mit.edu 36 20 49667453 49667453 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 49667453 49667453 C T SNP ATP9A NM_006045 human genbank 54_36p -1 validated missense c.2398 p.V800M 1 "HMMPfam_Hydrolase,superfamily_HAD-like" "HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors SALL4 57167 broad.mit.edu 36 20 49840118 49840118 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 49840118 49840118 C T SNP SALL4 NM_020436 human genbank 54_36p -1 reviewed missense c.2311 p.E771K 1 NULL "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors SALL4 57167 broad.mit.edu 36 20 49840821 49840821 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 49840821 49840821 G C SNP SALL4 NM_020436 human genbank 54_36p -1 reviewed missense c.1608 p.F536L 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors SALL4 57167 broad.mit.edu 36 20 49841662 49841662 + Missense_Mutation SNP G G C novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 49841662 49841662 G C SNP SALL4 NM_020436 human genbank 54_36p -1 reviewed missense c.767 p.T256S 0.98 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZFP64 55734 broad.mit.edu 36 20 50203113 50203113 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 50203113 50203113 G T SNP ZFP64 NM_018197 human genbank 54_36p -1 validated missense c.1025 p.P342H 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors TSHZ2 128553 broad.mit.edu 36 20 51305913 51305913 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 51305913 51305913 A G SNP TSHZ2 NM_173485 human genbank 54_36p 1 validated missense c.2509 p.T837A 0.98 NULL "PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX,HMMPfam_Homeobox,HMMPfam_zf-C2H2" - no_errors TSHZ2 128553 broad.mit.edu 36 20 51306065 51306065 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 51306065 51306065 G T SNP TSHZ2 NM_173485 human genbank 54_36p 1 validated missense c.2661 p.K887N 1 "HMMPfam_Homeobox,HMMSmart_HOX" "HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1" - no_errors ZNF217 7764 broad.mit.edu 36 20 51625714 51625714 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 51625714 51625714 C G SNP ZNF217 NM_006526 human genbank 54_36p -1 validated missense c.2996 p.C999S 0.7 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors BCAS1 8537 broad.mit.edu 36 20 52025338 52025338 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 52025338 52025338 C A SNP BCAS1 NM_003657 human genbank 54_36p -1 reviewed missense c.1179 p.E393D 1 NULL NULL - no_errors CYP24A1 1591 broad.mit.edu 36 20 52215711 52215711 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 52215711 52215711 T A SNP CYP24A1 NM_000782 human genbank 54_36p -1 reviewed missense c.709 p.N237Y 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors DOK5 55816 broad.mit.edu 36 20 52638452 52638452 + Silent SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 52638452 52638452 G A SNP DOK5 NM_018431 human genbank 54_36p 1 reviewed silent c.198 p.K66 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00310,HMMPfam_IRS" - no_errors MC3R 4159 broad.mit.edu 36 20 54257451 54257451 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 54257451 54257451 G C SNP MC3R NM_019888 human genbank 54_36p 1 reviewed missense c.256 p.G86R 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MC3R 4159 broad.mit.edu 36 20 54257504 54257504 + Silent SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 54257504 54257504 C T SNP MC3R NM_019888 human genbank 54_36p 1 reviewed silent c.309 p.N103 0.98 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors MC3R 4159 broad.mit.edu 36 20 54257958 54257958 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 54257958 54257958 G A SNP MC3R NM_019888 human genbank 54_36p 1 reviewed missense c.763 p.V255I 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors CASS4 57091 broad.mit.edu 36 20 54454391 54454391 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 54454391 54454391 G A SNP CASS4 NM_020356 human genbank 54_36p 1 validated missense c.488 p.R163Q 0.04 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_Serine_rich" - no_errors CASS4 57091 broad.mit.edu 36 20 54461131 54461131 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 54461131 54461131 C T SNP CASS4 NM_020356 human genbank 54_36p 1 validated nonsense c.1492 p.R498* 0.14 HMMPfam_Serine_rich "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Serine_rich" - no_errors CASS4 57091 broad.mit.edu 36 20 54466892 54466892 + Silent SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 54466892 54466892 G A SNP CASS4 NM_020356 human genbank 54_36p 1 validated silent c.2043 p.G681 0.99 NULL "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Serine_rich" - no_errors RBM38 55544 broad.mit.edu 36 20 55401144 55401144 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 55401144 55401144 A G SNP RBM38 ENST00000342690 human ensembl 54_36p 1 known missense c.263 p.E88G 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors CTCFL 140690 broad.mit.edu 36 20 55511966 55511966 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 55511966 55511966 A G SNP CTCFL NM_080618 human genbank 54_36p -1 reviewed missense c.1772 p.I591T 0 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CTCFL 140690 broad.mit.edu 36 20 55532494 55532494 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 55532494 55532494 G T SNP CTCFL NM_080618 human genbank 54_36p -1 reviewed missense c.174 p.D58E 0 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZBP1 81030 broad.mit.edu 36 20 55621672 55621672 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 55621672 55621672 A G SNP ZBP1 NM_030776 human genbank 54_36p -1 provisional missense c.623 p.I208T 0.92 NULL "HMMSmart_SM00550,HMMPfam_z-alpha,superfamily_Winged helix DNA-binding domain" - no_errors ZBP1 81030 broad.mit.edu 36 20 55623407 55623407 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 55623407 55623407 C G SNP ZBP1 NM_030776 human genbank 54_36p -1 provisional missense c.444 p.K148N 0 HMMSmart_SM00550 "HMMPfam_z-alpha,HMMSmart_SM00550,superfamily_Winged helix DNA-binding domain" - no_errors STX16 8675 broad.mit.edu 36 20 56684661 56684661 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 56684661 56684661 C T SNP STX16 NM_001001433 human genbank 54_36p 1 reviewed nonsense c.886 p.Q296* 1 HMMPfam_SNARE "superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors GNAS 2778 broad.mit.edu 36 20 56913889 56913889 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 56913889 56913889 C G SNP GNAS NM_001077488 human genbank 54_36p 1 reviewed nonsense c.492 p.Y164* 0.98 "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" - no_errors GNAS 2778 broad.mit.edu 36 20 56918234 56918234 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 20 56918234 56918234 C G SNP GNAS NM_001077488 human genbank 54_36p 1 reviewed missense c.822 p.F274L 1 "HMMPfam_G-alpha,superfamily_SSF52540" "HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540" - no_errors TH1L 51497 broad.mit.edu 36 20 56999478 56999478 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 56999478 56999478 G A SNP TH1L NM_198976 human genbank 54_36p 1 reviewed missense c.934 p.V312I 1 HMMPfam_TH1 HMMPfam_TH1 - no_errors TUBB1 81027 broad.mit.edu 36 20 57032379 57032379 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 57032379 57032379 A T SNP TUBB1 NM_030773 human genbank 54_36p 1 validated missense c.502 p.S168C 1 "superfamily_Tubulin_FtsZ,HMMPfam_Tubulin" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" - no_errors ZNF831 128611 broad.mit.edu 36 20 57215425 57215425 + Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 57215425 57215425 C T SNP ZNF831 NM_178457 human genbank 54_36p 1 provisional nonsense c.3946 p.R1316* 0 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF831 128611 broad.mit.edu 36 20 57262744 57262744 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 57262744 57262744 C A SNP ZNF831 NM_178457 human genbank 54_36p 1 provisional missense c.4585 p.P1529T 0.01 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors PHACTR3 116154 broad.mit.edu 36 20 57751584 57751584 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 20 57751584 57751584 G A SNP PHACTR3 NM_080672 human genbank 54_36p 1 reviewed missense c.146 p.R49H 1 NULL "HMMSmart_SM00707,HMMPfam_RPEL" - no_errors PHACTR3 116154 broad.mit.edu 36 20 57763775 57763775 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 57763775 57763775 G A SNP PHACTR3 NM_080672 human genbank 54_36p 1 reviewed missense c.502 p.D168N 0.01 NULL "HMMPfam_RPEL,HMMSmart_SM00707" - no_errors SYCP2 10388 broad.mit.edu 36 20 57882379 57882379 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 57882379 57882379 G A SNP SYCP2 NM_014258 human genbank 54_36p -1 reviewed missense c.3482 p.S1161L 0.55 NULL NULL - no_errors C20orf177 63939 broad.mit.edu 36 20 57953240 57953240 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 57953240 57953240 A T SNP C20orf177 NM_022106 human genbank 54_36p 1 predicted missense c.847 p.R283W 0.03 NULL NULL - no_errors C20orf197 284756 broad.mit.edu 36 20 58079162 58079162 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 58079162 58079162 T C SNP C20orf197 NM_173644 human genbank 54_36p 1 predicted missense c.185 p.L62P 0 NULL NULL - no_errors CDH4 1002 broad.mit.edu 36 20 59853122 59853122 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 59853122 59853122 C T SNP CDH4 NM_001794 human genbank 54_36p 1 reviewed missense c.580 p.R194W 1 "superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" "superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors TAF4 6874 broad.mit.edu 36 20 59984726 59984726 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 59984726 59984726 T C SNP TAF4 NM_003185 human genbank 54_36p -1 reviewed missense c.3151 p.T1051A 1 HMMPfam_TAF4 "HMMPfam_TAFH,HMMSmart_TAFH,HMMPfam_TAF4,superfamily_Histone-fold" - no_errors TAF4 6874 broad.mit.edu 36 20 60023144 60023144 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 60023144 60023144 G C SNP TAF4 NM_003185 human genbank 54_36p -1 reviewed missense c.1375 p.R459G 1 NULL "HMMPfam_TAFH,HMMSmart_TAFH,HMMPfam_TAF4,superfamily_Histone-fold" - no_errors SS18L1 26039 broad.mit.edu 36 20 60183019 60183019 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 60183019 60183019 G A SNP SS18L1 NM_198935 human genbank 54_36p 1 validated missense c.1088 p.G363D 1 NULL HMMPfam_SSXT - no_errors OSBPL2 9885 broad.mit.edu 36 20 60280615 60280615 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 20 60280615 60280615 C T SNP OSBPL2 NM_144498 human genbank 54_36p 1 reviewed missense c.298 p.P100S 1 HMMPfam_Oxysterol_BP "HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors SLCO4A1 28231 broad.mit.edu 36 20 60768244 60768244 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 60768244 60768244 G C SNP SLCO4A1 NM_016354 human genbank 54_36p 1 validated missense c.1344 p.R448S 1 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors DIDO1 11083 broad.mit.edu 36 20 60981578 60981578 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 60981578 60981578 G C SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.6175 p.P2059A 0.19 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC" - no_errors DIDO1 11083 broad.mit.edu 36 20 60982318 60982318 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 60982318 60982318 G A SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.5435 p.S1812L 0.99 NULL "HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors DIDO1 11083 broad.mit.edu 36 20 60983697 60983697 + Silent SNP G G A novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 60983697 60983697 G A SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed silent c.4056 p.D1352 0 NULL "HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors DIDO1 11083 broad.mit.edu 36 20 60984142 60984143 + Missense_Mutation DNP TT TT GC novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 60984142 60984143 TT GC DNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.3611_3610 p.N1204A 0.000:0.004 NULL "HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors DIDO1 11083 broad.mit.edu 36 20 61011659 61011659 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 61011659 61011659 G A SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.998 p.A333V 0.29 NULL "HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SLC17A9 63910 broad.mit.edu 36 20 61067431 61067431 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 61067431 61067431 G A SNP SLC17A9 NM_022082 human genbank 54_36p 1 validated missense c.970 p.V324I 0.96 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_2" - no_errors NKAIN4 128414 broad.mit.edu 36 20 61351772 61351773 + Missense_Mutation DNP AG AG GC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61351772 61351773 AG GC DNP NKAIN4 NM_152864 human genbank 54_36p -1 provisional missense c.152_151 p.L51A 1.000:1.000 HMMPfam_NKAIN HMMPfam_NKAIN - no_errors COL20A1 81578 broad.mit.edu 36 20 61399771 61399771 + Silent SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61399771 61399771 G A SNP COL20A1 ENST00000326996 human ensembl 54_36p 1 known silent c.147 p.S49 0.15 "HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" "HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors KCNQ2 3785 broad.mit.edu 36 20 61544327 61544327 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61544327 61544327 T G SNP KCNQ2 NM_172107 human genbank 54_36p -1 reviewed missense c.692 p.E231A 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors PPDPF 79144 broad.mit.edu 36 20 61623317 61623317 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61623317 61623317 G T SNP C20orf149 NM_024299 human genbank 54_36p 1 predicted missense c.64 p.G22C 1 NULL NULL - no_errors PRIC285 85441 broad.mit.edu 36 20 61662454 61662454 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61662454 61662454 T A SNP PRIC285 NM_001037335 human genbank 54_36p -1 reviewed missense c.7322 p.K2441M 0.01 superfamily_P-loop containing nucleoside triphosphate hydrolases "PatternScan_ZINC_FINGER_C2H2_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_RNB,PatternScan_RIBONUCLEASE_II" - no_errors GMEB2 26205 broad.mit.edu 36 20 61721179 61721179 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61721179 61721179 C T SNP GMEB2 NM_012384 human genbank 54_36p -1 reviewed missense c.16 p.V6M 1 NULL "HMMPfam_SAND,superfamily_SAND_like,HMMSmart_SAND" - no_errors ZGPAT 84619 broad.mit.edu 36 20 61810451 61810451 + Silent SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61810451 61810451 C A SNP ZGPAT NM_032527 human genbank 54_36p 1 validated silent c.75 p.G25 0.84 NULL "HMMPfam_zf-CCCH,HMMSmart_SM00356,HMMSmart_SM00443,HMMPfam_G-patch" - no_errors ZGPAT 84619 broad.mit.edu 36 20 61810792 61810792 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 61810792 61810792 A C SNP ZGPAT NM_032527 human genbank 54_36p 1 validated missense c.416 p.Y139S 1 NULL "HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_zf-CCCH,HMMSmart_SM00356" - no_errors ZBTB46 140685 broad.mit.edu 36 20 61891960 61891960 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 61891960 61891960 C A SNP ZBTB46 NM_025224 human genbank 54_36p -1 provisional nonsense c.595 p.E199* 1 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SAMD10 140700 broad.mit.edu 36 20 62077543 62077543 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 62077543 62077543 C A SNP SAMD10 NM_080621 human genbank 54_36p -1 validated missense c.532 p.V178L 1 "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" - no_errors PRPF6 24148 broad.mit.edu 36 20 62103026 62103026 + Silent SNP T T A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 62103026 62103026 T A SNP PRPF6 NM_012469 human genbank 54_36p 1 reviewed silent c.1176 p.V392 1 "superfamily_SSF48452,HMMSmart_HAT" "HMMPfam_PRP1_N,HMMSmart_HAT,superfamily_SSF48452,HMMPfam_TPR_1" - no_errors OPRL1 4987 broad.mit.edu 36 20 62200170 62200170 + Silent SNP C C T novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 62200170 62200170 C T SNP OPRL1 NM_000913 human genbank 54_36p 1 reviewed silent c.687 p.L229 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors NPBWR2 2832 broad.mit.edu 36 20 62208521 62208521 + Silent SNP G G T novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 62208521 62208521 G T SNP NPBWR2 NM_005286 human genbank 54_36p -1 reviewed silent c.108 p.T36 0.82 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MYT1 4661 broad.mit.edu 36 20 62318959 62318959 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 20 62318959 62318959 A G SNP MYT1 NM_004535 human genbank 54_36p 1 reviewed missense c.1727 p.E576G 1 HMMPfam_MYT1 "superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1" - no_errors BAGE4 85317 broad.mit.edu 36 21 10120600 10120600 + Silent SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 10120600 10120600 G A SNP BAGE4 NM_181704 human genbank 54_36p -1 provisional silent c.9 p.A3 0 HMMPfam_BAGE HMMPfam_BAGE - no_errors POTED 317754 broad.mit.edu 36 21 13909667 13909667 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 13909667 13909667 G T SNP POTED NM_174981 human genbank 54_36p 1 validated nonsense c.715 p.G239* 0.11 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_errors POTED 317754 broad.mit.edu 36 21 13922643 13922643 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 13922643 13922643 A G SNP POTED NM_174981 human genbank 54_36p 1 validated missense c.1196 p.E399G 0.01 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors LIPI 149998 broad.mit.edu 36 21 14460592 14460592 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 14460592 14460592 C T SNP LIPI NM_198996 human genbank 54_36p -1 validated missense c.758 p.G253E 0.81 "HMMPfam_Lipase,superfamily_SSF53474" "HMMPfam_Lipase,superfamily_SSF53474" - no_errors LIPI 149998 broad.mit.edu 36 21 14483549 14483549 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 14483549 14483549 A G SNP LIPI NM_198996 human genbank 54_36p -1 validated missense c.172 p.F58L 0.45 "HMMPfam_Lipase,superfamily_SSF53474" "HMMPfam_Lipase,superfamily_SSF53474" - no_errors USP25 29761 broad.mit.edu 36 21 16121176 16121176 + Silent SNP A A G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 16121176 16121176 A G SNP USP25 NM_013396 human genbank 54_36p 1 validated silent c.1476 p.E492 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_UBA-like,HMMPfam_UIM,HMMSmart_SM00726,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP25 29761 broad.mit.edu 36 21 16172057 16172057 + Silent SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 16172057 16172057 C T SNP USP25 NM_013396 human genbank 54_36p 1 validated silent c.2871 p.I957 1 NULL "HMMPfam_UCH,HMMPfam_UIM,HMMSmart_SM00726,superfamily_UBA-like,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases" - no_errors C21orf91 54149 broad.mit.edu 36 21 18091034 18091034 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 18091034 18091034 G C SNP C21orf91 NM_001100420 human genbank 54_36p -1 validated missense c.400 p.Q134E 1 HMMPfam_EURL HMMPfam_EURL - no_errors TMPRSS15 5651 broad.mit.edu 36 21 18607134 18607134 + Missense_Mutation SNP C C A rs34942696 Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 18607134 18607134 C A SNP PRSS7 NM_002772 human genbank 54_36p -1 reviewed missense c.2164 p.G722W 0.97 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" ############################################################################################################################################################################################################################################################### - no_errors TMPRSS15 5651 broad.mit.edu 36 21 18637753 18637753 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 18637753 18637753 T A SNP PRSS7 NM_002772 human genbank 54_36p -1 reviewed missense c.1369 p.N457Y 1 "HMMPfam_MAM,HMMSmart_SM00137" ############################################################################################################################################################################################################################################################### - no_errors TMPRSS15 5651 broad.mit.edu 36 21 18647201 18647201 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 21 18647201 18647201 C A SNP PRSS7 NM_002772 human genbank 54_36p -1 reviewed missense c.1061 p.C354F 1 "HMMPfam_MAM,HMMSmart_SM00137" ############################################################################################################################################################################################################################################################### - no_errors TMPRSS15 5651 broad.mit.edu 36 21 18697686 18697686 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 21 18697686 18697686 G T SNP PRSS7 NM_002772 human genbank 54_36p -1 reviewed missense c.125 p.T42K 0.81 NULL ############################################################################################################################################################################################################################################################### - no_errors NCAM2 4685 broad.mit.edu 36 21 21578592 21578592 + Splice_Site SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 21578592 21578592 G A SNP NCAM2 NM_004540 human genbank 54_36p 1 reviewed splice_site c.337+1 e3+1 1 - - - no_errors NCAM2 4685 broad.mit.edu 36 21 21762925 21762925 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 21762925 21762925 C A SNP NCAM2 NM_004540 human genbank 54_36p 1 reviewed missense c.1846 p.Q616K 1 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors MRPL39 54148 broad.mit.edu 36 21 25887033 25887033 + Missense_Mutation SNP G G C rs61735761 Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 25887033 25887033 G C SNP MRPL39 NM_080794 human genbank 54_36p -1 reviewed missense c.883 p.R295G 0.46 superfamily_ThrRS/AlaRS common domain "HMMPfam_TGS,superfamily_ThrRS/AlaRS common domain" - no_errors GABPA 2551 broad.mit.edu 36 21 26043237 26043237 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 26043237 26043237 T C SNP GABPA NM_002040 human genbank 54_36p 1 validated missense c.242 p.L81S 1 NULL "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors CYYR1 116159 broad.mit.edu 36 21 26762717 26762718 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 26762717 26762718 GA TT DNP CYYR1 NM_052954 human genbank 54_36p -1 validated missense c.439_438 p.P147T 1.000:1.000 NULL NULL - no_errors ADAMTS1 9510 broad.mit.edu 36 21 27138592 27138592 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 27138592 27138592 G C SNP ADAMTS1 NM_006988 human genbank 54_36p -1 reviewed missense c.553 p.L185V 1 NULL "PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS1 9510 broad.mit.edu 36 21 27138624 27138624 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 27138624 27138624 C T SNP ADAMTS1 NM_006988 human genbank 54_36p -1 reviewed missense c.521 p.G174E 0.01 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,HMMPfam_ADAM_spacer1,PatternScan_DISINTEGRIN_1,superfamily_SSF55486" - no_errors ADAMTS5 11096 broad.mit.edu 36 21 27227130 27227130 + Silent SNP A A G novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 27227130 27227130 A G SNP ADAMTS5 NM_007038 human genbank 54_36p -1 reviewed silent c.1794 p.A598 0.04 "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors LTN1 26046 broad.mit.edu 36 21 29246387 29246387 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 29246387 29246387 C T SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.3310 p.D1104N 1 NULL "superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4" - no_errors GRIK1 2897 broad.mit.edu 36 21 29945421 29945421 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 21 29945421 29945421 C T SNP GRIK1 NM_000830 human genbank 54_36p -1 reviewed missense c.842 p.R281Q 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors CLDN17 26285 broad.mit.edu 36 21 30460307 30460307 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 30460307 30460307 A C SNP CLDN17 NM_012131 human genbank 54_36p -1 provisional missense c.500 p.L167R 0.96 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors KRTAP26-1 388818 broad.mit.edu 36 21 30613710 30613710 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 30613710 30613710 C T SNP KRTAP26-1 NM_203405 human genbank 54_36p -1 validated missense c.515 p.R172H 0 HMMPfam_PMG HMMPfam_PMG - no_errors KRTAP27-1 643812 broad.mit.edu 36 21 30631406 30631406 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 30631406 30631406 A G SNP KRTAP27-1 NM_001077711 human genbank 54_36p -1 provisional missense c.452 p.F151S 0.1 HMMPfam_PMG HMMPfam_PMG - no_errors KRTAP13-1 140258 broad.mit.edu 36 21 30690461 30690461 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 30690461 30690461 G T SNP KRTAP13-1 NM_181599 human genbank 54_36p 1 validated missense c.186 p.E62D 0.06 HMMPfam_PMG HMMPfam_PMG - no_errors KRTAP19-4 337971 broad.mit.edu 36 21 30791058 30791058 + Nonsense_Mutation SNP A A T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 30791058 30791058 A T SNP KRTAP19-4 NM_181610 human genbank 54_36p -1 provisional nonsense c.242 p.L81* 0 NULL NULL - no_errors KRTAP20-2 337976 broad.mit.edu 36 21 30929624 30929624 + Silent SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 30929624 30929624 A T SNP KRTAP20-2 NM_181616 human genbank 54_36p 1 provisional silent c.171 p.G57 0.09 NULL NULL - no_errors HUNK 30811 broad.mit.edu 36 21 32290007 32290007 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 21 32290007 32290007 C T SNP HUNK NM_014586 human genbank 54_36p 1 validated missense c.1361 p.S454F 0.97 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors SYNJ1 8867 broad.mit.edu 36 21 32925915 32925915 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 21 32925915 32925915 A G SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated missense c.3983 p.L1328P 1 NULL "HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD" - no_errors SYNJ1 8867 broad.mit.edu 36 21 32994229 32994229 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 21 32994229 32994229 A G SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated missense c.269 p.I90T 1 HMMPfam_Syja_N "HMMSmart_SM00128,HMMPfam_Syja_N,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD" - no_errors GCFC1 94104 broad.mit.edu 36 21 33039006 33039006 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 33039006 33039006 A C SNP C21orf66 NM_016631 human genbank 54_36p -1 reviewed missense c.2158 p.S720A 1 HMMPfam_GCFC HMMPfam_GCFC - no_errors IFNAR2 3455 broad.mit.edu 36 21 33556887 33556887 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 33556887 33556887 A T SNP IFNAR2 NM_000874 human genbank 54_36p 1 reviewed missense c.992 p.D331V 0.05 NULL "superfamily_Fibronectin type III,HMMPfam_Interfer-bind" - no_errors IL10RB 3588 broad.mit.edu 36 21 33574013 33574013 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 33574013 33574013 T C SNP IL10RB NM_000628 human genbank 54_36p 1 reviewed missense c.418 p.Y140H 0.15 "HMMSmart_FN3,superfamily_FN_III-like" "HMMSmart_FN3,superfamily_FN_III-like" - no_errors TMEM50B 757 broad.mit.edu 36 21 33749915 33749915 + Silent SNP A A C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 33749915 33749915 A C SNP TMEM50B NM_006134 human genbank 54_36p -1 validated silent c.420 p.L140 0.92 HMMPfam_UPF0220 HMMPfam_UPF0220 - no_errors ITSN1 6453 broad.mit.edu 36 21 34013029 34013029 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 34013029 34013029 G C SNP ITSN1 NM_003024 human genbank 54_36p 1 reviewed missense c.26 p.G9A 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ITSN1 6453 broad.mit.edu 36 21 34130729 34130729 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 34130729 34130729 G C SNP ITSN1 NM_003024 human genbank 54_36p 1 reviewed missense c.3584 p.G1195A 1 "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain" ############################################################################################################################################################################################################################################################### - no_errors SLC5A3 6526 broad.mit.edu 36 21 34390965 34390965 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 34390965 34390965 C A SNP SLC5A3 NM_006933 human genbank 54_36p 1 validated missense c.1598 p.T533K 1 NULL "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2" - no_errors CLIC6 54102 broad.mit.edu 36 21 35002123 35002123 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 21 35002123 35002123 A T SNP CLIC6 NM_053277 human genbank 54_36p 1 reviewed missense c.1496 p.D499V 1 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,superfamily_Glutathione S-transferase (GST) C-terminal domain" - no_errors DOPEY2 9980 broad.mit.edu 36 21 36531530 36531530 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 36531530 36531530 C T SNP DOPEY2 NM_005128 human genbank 54_36p 1 validated missense c.2723 p.T908M 0.89 NULL HMMPfam_Dopey_N - no_errors MORC3 23515 broad.mit.edu 36 21 36658405 36658405 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 36658405 36658405 C G SNP MORC3 NM_015358 human genbank 54_36p 1 reviewed missense c.1597 p.Q533E 0.4 NULL "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMPfam_zf-CW" - no_errors HLCS 3141 broad.mit.edu 36 21 37231147 37231147 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 37231147 37231147 G T SNP HLCS NM_000411 human genbank 54_36p -1 validated missense c.468 p.N156K 0 NULL "superfamily_SSF55681,HMMPfam_BPL_LipA_LipB,HMMPfam_BPL_C" - no_errors KCNJ6 3763 broad.mit.edu 36 21 38008854 38008854 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 38008854 38008854 A C SNP KCNJ6 NM_002240 human genbank 54_36p -1 reviewed missense c.476 p.V159G 1 "HMMPfam_IRK,superfamily_SSF81324" "HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set" - no_errors DSCAM 1826 broad.mit.edu 36 21 40379537 40379537 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 40379537 40379537 T A SNP DSCAM NM_001389 human genbank 54_36p -1 validated missense c.3994 p.I1332F 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors DSCAM 1826 broad.mit.edu 36 21 40481721 40481721 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 40481721 40481721 C A SNP DSCAM NM_001389 human genbank 54_36p -1 validated nonsense c.2617 p.E873* 1 "HMMSmart_SM00409,superfamily_Fibronectin type III,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors DSCAM 1826 broad.mit.edu 36 21 40605882 40605882 + Silent SNP G G C novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 40605882 40605882 G C SNP DSCAM NM_001389 human genbank 54_36p -1 validated silent c.2058 p.V686 0.99 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors BACE2 25825 broad.mit.edu 36 21 41531370 41531370 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 41531370 41531370 G T SNP BACE2 NM_012105 human genbank 54_36p 1 reviewed missense c.462 p.W154C 1 "superfamily_Acid proteases,HMMPfam_Asp" "superfamily_Acid proteases,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors MX2 4600 broad.mit.edu 36 21 41676280 41676280 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 41676280 41676280 G T SNP MX2 NM_002463 human genbank 54_36p 1 reviewed missense c.651 p.E217D 0.9 "HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N" "HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_GED" - no_errors MX1 4599 broad.mit.edu 36 21 41752421 41752421 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 41752421 41752421 C A SNP MX1 NM_002462 human genbank 54_36p 1 reviewed missense c.1855 p.L619I 1 "HMMPfam_GED,HMMSmart_GED" "HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_GED" - no_errors TMPRSS2 7113 broad.mit.edu 36 21 41791942 41791942 + 5'UTR SNP C C G novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 41791942 41791942 C G SNP TMPRSS2 NM_005656 human genbank 54_36p -1 reviewed 5_prime_untranslated_region c.-12 NULL 0.76 - - - no_errors PRDM15 63977 broad.mit.edu 36 21 42094832 42094832 + Silent SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 42094832 42094832 C T SNP PRDM15 NM_022115 human genbank 54_36p -1 validated silent c.4161 p.P1387 0.6 NULL "HMMSmart_SET,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2" - no_errors PRDM15 63977 broad.mit.edu 36 21 42103580 42103580 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 42103580 42103580 T C SNP PRDM15 NM_022115 human genbank 54_36p -1 validated missense c.3749 p.E1250G 1 NULL "HMMSmart_SET,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors PRDM15 63977 broad.mit.edu 36 21 42119469 42119469 + Silent SNP T T C novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 42119469 42119469 T C SNP PRDM15 NM_022115 human genbank 54_36p -1 validated silent c.2643 p.R881 0.96 superfamily_SSF57667 "HMMSmart_SET,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors C2CD2 25966 broad.mit.edu 36 21 42200838 42200838 + Silent SNP C C T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 42200838 42200838 C T SNP C2CD2 NM_015500 human genbank 54_36p -1 validated silent c.1143 p.E381 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors UMODL1 89766 broad.mit.edu 36 21 42383593 42383593 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 42383593 42383593 C T SNP UMODL1 NM_173568 human genbank 54_36p 1 validated missense c.907 p.R303W 0 "HMMSmart_SM00179,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors ABCG1 9619 broad.mit.edu 36 21 42575502 42575502 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 42575502 42575502 G A SNP ABCG1 NM_004915 human genbank 54_36p 1 reviewed missense c.638 p.R213Q 0.82 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors TMPRSS3 64699 broad.mit.edu 36 21 42668909 42668909 + Silent SNP G G A novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 42668909 42668909 G A SNP TMPRSS3 NM_024022 human genbank 54_36p -1 reviewed silent c.1332 p.I444 0.97 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" ############################################################################################################################################################################################################################################################### - no_errors UBASH3A 53347 broad.mit.edu 36 21 42736496 42736496 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 42736496 42736496 C T SNP UBASH3A NM_018961 human genbank 54_36p 1 validated missense c.1637 p.A546V 0.04 "superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM" "superfamily_UBA-like,HMMPfam_UBA,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM" - no_errors RSPH1 89765 broad.mit.edu 36 21 42766027 42766027 + Silent SNP T T C novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 42766027 42766027 T C SNP RSPH1 NM_080860 human genbank 54_36p -1 validated silent c.900 p.E300 0.8 NULL "HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698" - no_errors WDR4 10785 broad.mit.edu 36 21 43143305 43143305 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 43143305 43143305 G A SNP WDR4 NM_018669 human genbank 54_36p -1 reviewed missense c.1162 p.R388W 0.78 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors WDR4 10785 broad.mit.edu 36 21 43145494 43145494 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 43145494 43145494 C A SNP WDR4 NM_018669 human genbank 54_36p -1 reviewed nonsense c.985 p.E329* 0.09 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors NDUFV3 4731 broad.mit.edu 36 21 43196549 43196549 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 21 43196549 43196549 A G SNP NDUFV3 NM_021075 human genbank 54_36p 1 reviewed missense c.358 p.T120A 1 NULL NULL - no_errors NDUFV3 4731 broad.mit.edu 36 21 43202198 43202198 + Nonstop_Mutation SNP T T G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 21 43202198 43202198 T G SNP NDUFV3 NM_021075 human genbank 54_36p 1 reviewed nonstop c.1420 p.*474G 1 NULL NULL - no_errors PKNOX1 5316 broad.mit.edu 36 21 43323267 43323267 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 43323267 43323267 A G SNP PKNOX1 NM_004571 human genbank 54_36p 1 validated missense c.1298 p.D433G 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors CRYAA 1409 broad.mit.edu 36 21 43462450 43462450 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 43462450 43462450 G C SNP CRYAA NM_000394 human genbank 54_36p 1 reviewed missense c.172 p.D58H 1 superfamily_HSP20-like chaperones "HMMPfam_Crystallin,superfamily_HSP20-like chaperones,HMMPfam_HSP20" - no_errors RRP1B 23076 broad.mit.edu 36 21 43937631 43937632 + Missense_Mutation DNP TG TG AA novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 43937631 43937632 TG AA DNP RRP1B NM_015056 human genbank 54_36p 1 validated missense c.2216_2217 p.V739E 0.000:0.000 NULL HMMPfam_Nop52 - no_errors PDXK 8566 broad.mit.edu 36 21 44000290 44000290 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 44000290 44000290 C G SNP PDXK NM_003681 human genbank 54_36p 1 reviewed missense c.857 p.P286R 1 superfamily_Ribokinase-like "superfamily_Ribokinase-like,HMMPfam_PfkB" - no_errors AGPAT3 56894 broad.mit.edu 36 21 44213437 44213437 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 44213437 44213437 T A SNP AGPAT3 NM_001037553 human genbank 54_36p 1 reviewed missense c.359 p.V120D 1 "HMMPfam_Acyltransferase,HMMSmart_SM00563" "HMMPfam_Acyltransferase,HMMSmart_SM00563" - no_errors C21orf33 8209 broad.mit.edu 36 21 44380437 44380437 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 44380437 44380437 C A SNP C21orf33 NM_004649 human genbank 54_36p 1 validated missense c.262 p.H88N 1 "superfamily_Class I glutamine amidotransferase-like,HMMPfam_DJ-1_PfpI" "superfamily_Class I glutamine amidotransferase-like,HMMPfam_DJ-1_PfpI" - no_errors PFKL 5211 broad.mit.edu 36 21 44571033 44571033 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 44571033 44571033 A G SNP PFKL NM_002626 human genbank 54_36p 1 reviewed missense c.2203 p.M735V 1 superfamily_Phosphofructokinase "HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE" - no_errors TRPM2 7226 broad.mit.edu 36 21 44623320 44623320 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 44623320 44623320 G A SNP TRPM2 NM_003307 human genbank 54_36p 1 reviewed missense c.1027 p.A343T 1 NULL "HMMPfam_Ion_trans,PatternScan_CHITINASE_18,superfamily_Nudix" - no_errors TRPM2 7226 broad.mit.edu 36 21 44635613 44635613 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 44635613 44635613 G T SNP TRPM2 NM_003307 human genbank 54_36p 1 reviewed missense c.1471 p.A491S 1 NULL "PatternScan_CHITINASE_18,HMMPfam_Ion_trans,superfamily_Nudix" - no_errors TRPM2 7226 broad.mit.edu 36 21 44683403 44683403 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 44683403 44683403 T C SNP TRPM2 NM_003307 human genbank 54_36p 1 reviewed missense c.4193 p.L1398P 0.92 superfamily_Nudix "PatternScan_CHITINASE_18,HMMPfam_Ion_trans,superfamily_Nudix" - no_errors C21orf29 54084 broad.mit.edu 36 21 44744211 44744211 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 44744211 44744211 G T SNP C21orf29 NM_144991 human genbank 54_36p -1 provisional missense c.1893 p.S631R 0.99 NULL "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP" - no_errors KRTAP10-9 386676 broad.mit.edu 36 21 44872235 44872235 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 44872235 44872235 G A SNP KRTAP10-9 NM_198690 human genbank 54_36p 1 validated missense c.719 p.R240K 0.97 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors KRTAP12-4 386684 broad.mit.edu 36 21 44898949 44898949 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 44898949 44898949 G A SNP KRTAP12-4 NM_198698 human genbank 54_36p -1 provisional missense c.11 p.T4I 1 NULL NULL - no_errors ITGB2 3689 broad.mit.edu 36 21 45136247 45136247 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 45136247 45136247 C T SNP ITGB2 NM_000211 human genbank 54_36p -1 reviewed silent c.1317 p.V439 0 "HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179" ############################################################################################################################################################################################################################################################### - no_errors ITGB2 3689 broad.mit.edu 36 21 45143505 45143505 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 45143505 45143505 C G SNP ITGB2 NM_000211 human genbank 54_36p -1 reviewed missense c.898 p.D300H 1 "HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300" ############################################################################################################################################################################################################################################################### - no_errors COL18A1 80781 broad.mit.edu 36 21 45713004 45713004 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 45713004 45713004 T C SNP COL18A1 NM_030582 human genbank 54_36p 1 reviewed missense c.1067 p.L356P 1 "superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG" "HMMPfam_DUF959,superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG,HMMPfam_Collagen,HMMPfam_Endostatin,superfamily_C-type_lectin_fold" - no_errors COL6A2 1292 broad.mit.edu 36 21 46370240 46370240 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 46370240 46370240 G C SNP COL6A2 NM_001849 human genbank 54_36p 1 reviewed missense c.2083 p.E695Q 1 "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Collagen" - no_errors COL6A2 1292 broad.mit.edu 36 21 46376631 46376631 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 46376631 46376631 C T SNP COL6A2 NM_001849 human genbank 54_36p 1 reviewed missense c.2797 p.R933C 0 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors MCM3AP 8888 broad.mit.edu 36 21 46501213 46501213 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 46501213 46501213 C T SNP MCM3AP NM_003906 human genbank 54_36p -1 reviewed missense c.3850 p.E1284K 0.89 NULL "superfamily_SSF54928,HMMPfam_SAC3_GANP" - no_errors PCNT 5116 broad.mit.edu 36 21 46590524 46590524 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 46590524 46590524 G T SNP PCNT NM_006031 human genbank 54_36p 1 reviewed missense c.694 p.D232Y 0.01 NULL HMMPfam_PACT_coil_coil - no_errors PCNT 5116 broad.mit.edu 36 21 46591329 46591329 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 46591329 46591329 G T SNP PCNT NM_006031 human genbank 54_36p 1 reviewed missense c.965 p.G322V 0 NULL HMMPfam_PACT_coil_coil - no_errors PCNT 5116 broad.mit.edu 36 21 46594105 46594105 + Silent SNP G G C novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 46594105 46594105 G C SNP PCNT NM_006031 human genbank 54_36p 1 reviewed silent c.1287 p.R429 0.05 NULL HMMPfam_PACT_coil_coil - no_errors PCNT 5116 broad.mit.edu 36 21 46608232 46608232 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 46608232 46608232 A C SNP PCNT NM_006031 human genbank 54_36p 1 reviewed missense c.2564 p.H855P 0.02 NULL HMMPfam_PACT_coil_coil - no_errors DIP2A 23181 broad.mit.edu 36 21 46784257 46784257 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 46784257 46784257 A G SNP DIP2A NM_015151 human genbank 54_36p 1 reviewed missense c.1961 p.Q654R 1 superfamily_Acetyl-CoA synthetase-like "HMMPfam_DMAP_binding,superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" - no_errors DIP2A 23181 broad.mit.edu 36 21 46800336 46800336 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 46800336 46800336 A C SNP DIP2A NM_015151 human genbank 54_36p 1 reviewed missense c.3402 p.K1134N 1 "HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like" "HMMPfam_AMP-binding,HMMPfam_DMAP_binding,superfamily_Acetyl-CoA synthetase-like" - no_errors CCT8L2 150160 broad.mit.edu 36 22 15452357 15452357 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 15452357 15452357 C G SNP CCT8L2 NM_014406 human genbank 54_36p -1 validated missense c.1084 p.V362L 0.01 "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like" "superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like" - no_errors CCT8L2 150160 broad.mit.edu 36 22 15452656 15452656 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 15452656 15452656 G C SNP CCT8L2 NM_014406 human genbank 54_36p -1 validated missense c.785 p.S262C 0 "HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like" "HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like" - no_errors GAB4 128954 broad.mit.edu 36 22 15825730 15825730 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 15825730 15825730 A T SNP GAB4 NM_001037814 human genbank 54_36p -1 provisional missense c.1402 p.S468T 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors IL17RA 23765 broad.mit.edu 36 22 15969845 15969845 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 15969845 15969845 T G SNP IL17RA NM_014339 human genbank 54_36p 1 reviewed missense c.1736 p.V579G 0 NULL HMMPfam_SEFIR - no_errors CECR1 51816 broad.mit.edu 36 22 16064504 16064504 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 16064504 16064504 C A SNP CECR1 NM_017424 human genbank 54_36p -1 reviewed missense c.702 p.E234D 1 "superfamily_SSF51556,HMMPfam_A_deaminase" "HMMPfam_A_deaminase_N,superfamily_SSF51556,HMMPfam_A_deaminase" - no_errors CECR1 51816 broad.mit.edu 36 22 16064625 16064625 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 16064625 16064625 T G SNP CECR1 NM_017424 human genbank 54_36p -1 reviewed missense c.581 p.E194A 0.77 "HMMPfam_A_deaminase,superfamily_SSF51556" "HMMPfam_A_deaminase,HMMPfam_A_deaminase_N,superfamily_SSF51556" - no_errors BCL2L13 23786 broad.mit.edu 36 22 16589790 16589790 + Silent SNP C C T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 22 16589790 16589790 C T SNP BCL2L13 NM_015367 human genbank 54_36p 1 validated silent c.948 p.P316 0.03 NULL "superfamily_Bcl-2 inhibitors of programmed cell death,HMMPfam_Bcl-2" - no_errors BID 637 broad.mit.edu 36 22 16606601 16606601 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 16606601 16606601 C G SNP BID NM_197966 human genbank 54_36p -1 reviewed missense c.329 p.S110T 0 "superfamily_SSF56854,HMMPfam_BID" "superfamily_SSF56854,HMMPfam_BID,PatternScan_BH3" - no_errors MICAL3 57553 broad.mit.edu 36 22 16743984 16743984 + Intron SNP T T C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 16743984 16743984 T C SNP MICAL3 ENST00000207726 human ensembl 54_36p -1 known intronic c.2325+3057 e16+3057 0 - - - no_errors USP18 11274 broad.mit.edu 36 22 17020540 17020540 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 17020540 17020540 A G SNP USP18 NM_017414 human genbank 54_36p 1 validated missense c.110 p.K37R 0.93 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors DGCR2 9993 broad.mit.edu 36 22 17406556 17406556 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 17406556 17406556 C A SNP DGCR2 NM_005137 human genbank 54_36p -1 validated missense c.1475 p.R492L 0.01 NULL "HMMPfam_Ldl_recept_a,superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_C-type_lectin_fold,HMMSmart_CLECT,HMMSmart_VWC,PatternScan_VWFC_1" - no_errors CLTCL1 8218 broad.mit.edu 36 22 17563895 17563895 + Nonsense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 17563895 17563895 C T SNP CLTCL1 ENST00000263200 human ensembl 54_36p -1 known nonsense c.4073 p.W1358* 1 "superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299" "superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel,HMMPfam_Clathrin-link,superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299" - no_errors CLTCL1 8218 broad.mit.edu 36 22 17576458 17576458 + Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 17576458 17576458 T A SNP CLTCL1 ENST00000263200 human ensembl 54_36p -1 known missense c.3416 p.E1139V 1 "HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat" "HMMPfam_Clathrin,HMMSmart_SM00299,HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin-link,superfamily_ARM repeat" - no_errors CLTCL1 8218 broad.mit.edu 36 22 17621616 17621616 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 17621616 17621616 G A SNP CLTCL1 ENST00000263200 human ensembl 54_36p -1 known missense c.385 p.H129Y 1 "HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain" "HMMPfam_Clathrin,HMMSmart_SM00299,HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin-link,superfamily_ARM repeat" - no_errors HIRA 7290 broad.mit.edu 36 22 17720961 17720961 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 17720961 17720961 C A SNP HIRA NM_003325 human genbank 54_36p -1 reviewed missense c.2766 p.Q922H 1 HMMPfam_Hira "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_HIRA_B,HMMPfam_Hira" - no_errors TXNRD2 10587 broad.mit.edu 36 22 18282746 18282746 + Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 18282746 18282746 G C SNP TXNRD2 ENST00000400516 human ensembl 54_36p -1 known nonsense c.582 p.Y194* 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,PatternScan_PYRIDINE_REDOX_1,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim" - no_errors TXNRD2 10587 broad.mit.edu 36 22 18286508 18286508 + Silent SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 18286508 18286508 G A SNP TXNRD2 ENST00000400516 human ensembl 54_36p -1 known silent c.249 p.G83 1 "PatternScan_PYRIDINE_REDOX_1,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_Pyr_redox_dim,PatternScan_PYRIDINE_REDOX_1,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,superfamily_FAD/NAD(P)-binding domain" - no_errors COMT 1312 broad.mit.edu 36 22 18331093 18331093 + Silent SNP G G A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 22 18331093 18331093 G A SNP COMT NM_000754 human genbank 54_36p 1 reviewed silent c.294 p.K98 0.99 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_3" "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_3" - no_errors RANBP1 5902 broad.mit.edu 36 22 18489874 18489899 + Frame_Shift_Del DEL CAAGGAGAAAGGGGCCATCCGCCTCC - CAAGGAGAAAGGGGCCATCCGCCTCC novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W CAAGGAGAAAGGGGCCATCCGCCTCC CAAGGAGAAAGGGGCCATCCGCCTCC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 22 18489874 18489899 CAAGGAGAAAGGGGCCATCCGCCTCC - DEL RANBP1 NM_002882 human genbank 54_36p 1 reviewed frame_shift_del c.240_265 p.K81fs 0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.978:0.995 "superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1" "superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1" "(deletion:cds_exon[18489787,18489944])" no_errors RTN4R 65078 broad.mit.edu 36 22 18610012 18610012 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 18610012 18610012 G T SNP RTN4R NM_023004 human genbank 54_36p -1 reviewed missense c.644 p.A215D 0.03 superfamily_SSF52058 "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT" - no_errors ZNF74 7625 broad.mit.edu 36 22 19089703 19089703 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 19089703 19089703 G A SNP ZNF74 NM_003426 human genbank 54_36p 1 validated missense c.380 p.G127D 0 NULL "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MED15 51586 broad.mit.edu 36 22 19250813 19250814 + In_Frame_Ins INS - CAG - novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 19250813 19250814 - CAG INS MED15 NM_001003891 human genbank 54_36p 1 reviewed in_frame_ins c.750_751 p.254in_frame_insQ 0.997:0.998 NULL HMMPfam_ARC105_Med_act - no_errors PI4KA 5297 broad.mit.edu 36 22 19412084 19412084 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 22 19412084 19412084 C T SNP PI4KA NM_058004 human genbank 54_36p -1 reviewed missense c.4577 p.S1526N 1 "superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka" "superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors AIFM3 150209 broad.mit.edu 36 22 19659035 19659035 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 19659035 19659035 G T SNP AIFM3 NM_144704 human genbank 54_36p 1 provisional missense c.650 p.G217V 1 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2" "HMMPfam_Rieske,superfamily_ISP domain,superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain" - no_errors LZTR1 8216 broad.mit.edu 36 22 19666711 19666712 + Missense_Mutation DNP AG AG CA novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W AG AG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 19666711 19666712 AG CA DNP LZTR1 NM_006767 human genbank 54_36p 1 reviewed missense c.51_52 p.G18S 0.972:0.991 NULL "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB" - no_errors LZTR1 8216 broad.mit.edu 36 22 19674673 19674673 + Splice_Site SNP A A C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 19674673 19674673 A C SNP LZTR1 NM_006767 human genbank 54_36p 1 reviewed splice_site c.652-2 e8-2 1 - - - no_errors SLC7A4 6545 broad.mit.edu 36 22 19714504 19714504 + Silent SNP C C G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 19714504 19714504 C G SNP SLC7A4 NM_004173 human genbank 54_36p -1 validated silent c.1119 p.A373 1 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors HIC2 23119 broad.mit.edu 36 22 20130914 20130914 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 20130914 20130914 C T SNP HIC2 NM_015094 human genbank 54_36p 1 validated missense c.1730 p.T577M 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors CCDC116 164592 broad.mit.edu 36 22 20318734 20318734 + Missense_Mutation SNP G G C rs35746656 Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 20318734 20318734 G C SNP CCDC116 NM_152612 human genbank 54_36p 1 provisional missense c.496 p.A166P 0.03 NULL HMMPfam_DUF411 - no_errors PPIL2 23759 broad.mit.edu 36 22 20369067 20369067 + Silent SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 20369067 20369067 G A SNP PPIL2 NM_148176 human genbank 54_36p 1 reviewed silent c.579 p.P193 1 NULL "superfamily_SSF57850,HMMSmart_Ubox,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors PPM1F 9647 broad.mit.edu 36 22 20615650 20615650 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 20615650 20615650 C A SNP PPM1F NM_014634 human genbank 54_36p -1 reviewed missense c.761 p.G254V 1 "superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG" "superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C" - no_errors TOP3B 8940 broad.mit.edu 36 22 20654768 20654768 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 20654768 20654768 G T SNP TOP3B NM_003935 human genbank 54_36p -1 reviewed missense c.395 p.A132D 1 "HMMSmart_SM00493,HMMPfam_Toprim,superfamily_Prokaryotic type I DNA topoisomerase" "HMMSmart_SM00493,HMMPfam_Toprim,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMPfam_Topoisom_bac,HMMSmart_SM00437,PatternScan_TOPOISOMERASE_I_PROK" - no_errors ZNF280B 140883 broad.mit.edu 36 22 21172614 21172614 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 21172614 21172614 C T SNP ZNF280B NM_080764 human genbank 54_36p -1 reviewed silent c.1110 p.E370 0.99 superfamily_RING/U-box "HMMSmart_SM00355,superfamily_RING/U-box,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZNF280B 140883 broad.mit.edu 36 22 21173712 21173712 + Silent SNP T T C novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 21173712 21173712 T C SNP ZNF280B NM_080764 human genbank 54_36p -1 reviewed silent c.12 p.S4 0.31 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_RING/U-box" - no_errors ZNF280A 129025 broad.mit.edu 36 22 21199652 21199652 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 21199652 21199652 C T SNP ZNF280A NM_080740 human genbank 54_36p -1 reviewed missense c.303 p.M101I 0 NULL "HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors PRAME 23532 broad.mit.edu 36 22 21229242 21229243 + Missense_Mutation DNP CT CT AA novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 CT CT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 21229242 21229243 CT AA DNP PRAME NM_006115 human genbank 54_36p -1 reviewed missense c.11_10 p.R4L 0.004:0.005 NULL superfamily_RNI-like - no_errors GGTLC2 91227 broad.mit.edu 36 22 21319329 21319329 + Silent SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 21319329 21319329 A T SNP GGTLC2 NM_199127 human genbank 54_36p 1 validated silent c.282 p.S94 1 HMMPfam_G_glu_transpept "HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE" - no_errors RAB36 9609 broad.mit.edu 36 22 21822252 21822252 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 21822252 21822252 G A SNP RAB36 NM_004914 human genbank 54_36p 1 validated nonsense c.270 p.W90* 1 NULL "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors ZNF70 7621 broad.mit.edu 36 22 22416108 22416108 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 22 22416108 22416108 A G SNP ZNF70 NM_021916 human genbank 54_36p -1 provisional missense c.1220 p.I407T 0.05 "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF70 7621 broad.mit.edu 36 22 22416478 22416478 + Missense_Mutation SNP G G C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 22416478 22416478 G C SNP ZNF70 NM_021916 human genbank 54_36p -1 provisional missense c.850 p.L284V 0.04 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors SMARCB1 6598 broad.mit.edu 36 22 22497603 22497604 + Splice_Site DNP GT GT AC novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 22497603 22497604 GT AC DNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed splice_site c.986+1_986+1 e7+1 1.000:1.000 - - - no_errors GSTT1 2952 broad.mit.edu 36 22 22706834 22706834 + Silent SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 22706834 22706834 C T SNP GSTT1 NM_000853 human genbank 54_36p -1 reviewed silent c.516 p.T172 0.35 "superfamily_GST_C_like,HMMPfam_GST_C" "HMMPfam_GST_N,superfamily_Thiordxn-like_fd,superfamily_GST_C_like,HMMPfam_GST_C" - no_errors SUSD2 56241 broad.mit.edu 36 22 22909157 22909158 + Frame_Shift_Del DEL GA - GA novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 GA GA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 22 22909157 22909158 GA - DEL SUSD2 NM_019601 human genbank 54_36p 1 validated frame_shift_del c.209_210 p.G70fs 0.999:0.962 NULL "HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,HMMSmart_AMOP,HMMPfam_AMOP,HMMSmart_VWD,HMMPfam_VWD,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" "(deletion:cds_exon[22909025,22909235])" no_errors GGT5 2687 broad.mit.edu 36 22 22952670 22952670 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 22952670 22952670 C T SNP GGT5 NM_001099781 human genbank 54_36p -1 reviewed missense c.967 p.V323I 0.83 HMMPfam_G_glu_transpept "HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE" - no_errors SPECC1L 23384 broad.mit.edu 36 22 23048635 23048635 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 23048635 23048635 G C SNP CYTSA NM_015330 human genbank 54_36p 1 validated missense c.1687 p.E563Q 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors PIWIL3 440822 broad.mit.edu 36 22 23445513 23445513 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 23445513 23445513 G C SNP PIWIL3 NM_001008496 human genbank 54_36p -1 validated missense c.2575 p.L859V 1 "superfamily_RNaseH_fold,HMMPfam_Piwi" "superfamily_SSF101690,HMMPfam_PAZ,superfamily_RNaseH_fold,HMMPfam_Piwi" - no_errors PIWIL3 440822 broad.mit.edu 36 22 23480089 23480089 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 23480089 23480089 C G SNP PIWIL3 NM_001008496 human genbank 54_36p -1 validated missense c.869 p.R290P 0.66 superfamily_SSF101690 "HMMPfam_PAZ,HMMPfam_Piwi,superfamily_RNaseH_fold,superfamily_SSF101690" - no_errors TMEM211 255349 broad.mit.edu 36 22 23664229 23664229 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 23664229 23664229 C G SNP TMEM211 NM_001001663 human genbank 54_36p -1 provisional missense c.14 p.G5A 1 NULL HMMPfam_L_HGMIC_fpl - no_errors ADRBK2 157 broad.mit.edu 36 22 24430154 24430154 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx 22 24430154 24430154 C T SNP ADRBK2 NM_005160 human genbank 54_36p 1 reviewed missense c.1306 p.R436W 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors MYO18B 84700 broad.mit.edu 36 22 24506162 24506162 + Silent SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 24506162 24506162 C T SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed silent c.2208 p.L736 0.99 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors MYO18B 84700 broad.mit.edu 36 22 24573605 24573605 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 24573605 24573605 G T SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.3761 p.R1254L 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO18B 84700 broad.mit.edu 36 22 24672103 24672103 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 22 24672103 24672103 C G SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.5518 p.L1840V 1 NULL "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO18B 84700 broad.mit.edu 36 22 24752607 24752607 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 24752607 24752607 C A SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.6667 p.P2223T 0 NULL "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors ASPHD2 57168 broad.mit.edu 36 22 25159725 25159725 + Silent SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 25159725 25159725 C T SNP ASPHD2 NM_020437 human genbank 54_36p 1 validated silent c.66 p.T22 0.99 NULL "HMMPfam_Asp_Arg_Hydrox,superfamily_SSF51197" - no_errors CRYBB1 1414 broad.mit.edu 36 22 25327971 25327971 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 25327971 25327971 G T SNP CRYBB1 NM_001887 human genbank 54_36p -1 reviewed missense c.447 p.H149Q 1 superfamily_G_crystallin_SF "superfamily_G_crystallin_SF,HMMPfam_Crystall,HMMSmart_XTALbg" - no_errors MN1 4330 broad.mit.edu 36 22 26523244 26523244 + Silent SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 26523244 26523244 C T SNP MN1 NM_002430 human genbank 54_36p -1 reviewed silent c.3288 p.P1096 0.96 NULL NULL - no_errors MN1 4330 broad.mit.edu 36 22 26524044 26524044 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 26524044 26524044 T C SNP MN1 NM_002430 human genbank 54_36p -1 reviewed missense c.2488 p.T830A 1 NULL NULL - no_errors MN1 4330 broad.mit.edu 36 22 26526333 26526333 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 26526333 26526333 G A SNP MN1 NM_002430 human genbank 54_36p -1 reviewed missense c.199 p.P67S 1 NULL NULL - no_errors ZNRF3 84133 broad.mit.edu 36 22 27776883 27776883 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 27776883 27776883 C A SNP ZNRF3 NM_032173 human genbank 54_36p 1 validated missense c.2414 p.P805H 0.04 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors KREMEN1 83999 broad.mit.edu 36 22 27867934 27867934 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 27867934 27867934 C T SNP KREMEN1 NM_001039570 human genbank 54_36p 1 reviewed missense c.1262 p.S421F 1 NULL "superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,HMMPfam_WSC,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB" - no_errors EMID1 129080 broad.mit.edu 36 22 27957097 27957097 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 27957097 27957097 C T SNP EMID1 NM_133455 human genbank 54_36p 1 validated missense c.554 p.A185V 0.94 NULL "HMMPfam_EMI,HMMPfam_Collagen" - no_errors EWSR1 2130 broad.mit.edu 36 22 28022304 28022304 + Missense_Mutation SNP A A G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 28022304 28022304 A G SNP EWSR1 NM_005243 human genbank 54_36p 1 reviewed missense c.1240 p.T414A 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "HMMPfam_SVS_QK,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1" - no_errors GAS2L1 10634 broad.mit.edu 36 22 28037931 28037931 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 28037931 28037931 C G SNP GAS2L1 ENST00000403764 human ensembl 54_36p 1 known missense c.1490 p.P497R 0.07 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243,superfamily_Calponin-homology domain CH-domain" - no_errors GAS2L1 10634 broad.mit.edu 36 22 28037990 28037990 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 28037990 28037990 T A SNP GAS2L1 ENST00000333679 human ensembl 54_36p 1 known missense c.1547 p.L516Q 1 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243,superfamily_Calponin-homology domain CH-domain" - no_errors GAS2L1 10634 broad.mit.edu 36 22 28038242 28038242 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 28038242 28038242 C G SNP GAS2L1 ENST00000333679 human ensembl 54_36p 1 known missense c.1799 p.S600C 1 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243,superfamily_Calponin-homology domain CH-domain" - no_errors NEFH 4744 broad.mit.edu 36 22 28209555 28209555 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 28209555 28209555 T A SNP NEFH NM_021076 human genbank 54_36p 1 reviewed missense c.1075 p.S359T 0.59 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF,HMMPfam_DUF1388" - no_errors NF2 4771 broad.mit.edu 36 22 28384240 28384240 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 28384240 28384240 A G SNP NF2 NM_000268 human genbank 54_36p 1 reviewed missense c.662 p.Y221C 1 "HMMSmart_SM00295,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like" "HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin tail domain" - no_errors TBC1D10A 83874 broad.mit.edu 36 22 29030527 29030527 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 29030527 29030527 T C SNP TBC1D10A NM_031937 human genbank 54_36p -1 provisional missense c.302 p.H101R 1 superfamily_Ypt/Rab-GAP domain of gyp1p "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMSmart_SM00164,HMMPfam_TBC" - no_errors SF3A1 10291 broad.mit.edu 36 22 29061718 29061718 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 29061718 29061718 C A SNP SF3A1 NM_005877 human genbank 54_36p -1 reviewed missense c.2131 p.V711L 1 superfamily_SSF54236 "superfamily_SSF109905,HMMSmart_SWAP,HMMPfam_Surp,superfamily_SSF54236,HMMPfam_ubiquitin,HMMSmart_UBQ" - no_errors SF3A1 10291 broad.mit.edu 36 22 29068210 29068210 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 29068210 29068210 C A SNP SF3A1 NM_005877 human genbank 54_36p -1 reviewed missense c.856 p.D286Y 1 NULL "HMMPfam_Surp,HMMSmart_SWAP,HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF109905,superfamily_SSF54236" - no_errors CCDC157 550631 broad.mit.edu 36 22 29092086 29092086 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 29092086 29092086 G A SNP CCDC157 ENST00000405659 human ensembl 54_36p 1 known missense c.97 p.G33R 1 NULL superfamily_Prefoldin - no_errors MTFP1 51537 broad.mit.edu 36 22 29154620 29154621 + Missense_Mutation DNP GA GA AG novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 GA GA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 29154620 29154621 GA AG DNP MTP18 NM_001003704 human genbank 54_36p 1 validated missense c.367_368 p.D123S 0.001:0.001 NULL HMMPfam_MTP18 - no_errors SLC35E4 339665 broad.mit.edu 36 22 29362922 29362922 + Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 29362922 29362922 T C SNP SLC35E4 NM_001001479 human genbank 54_36p 1 provisional missense c.485 p.L162P 1 superfamily_Multidrug resistance efflux transporter EmrE "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_TPT" - no_errors OSBP2 23762 broad.mit.edu 36 22 29421221 29421221 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 29421221 29421221 G C SNP OSBP2 NM_030758 human genbank 54_36p 1 reviewed missense c.325 p.E109Q 0.01 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_Oxysterol_BP,PatternScan_OSBP" - no_errors MORC2 22880 broad.mit.edu 36 22 29660166 29660166 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 29660166 29660166 G A SNP MORC2 NM_014941 human genbank 54_36p -1 provisional missense c.2020 p.R674W 0.84 NULL "superfamily_ATP_bd_ATPase,HMMPfam_zf-CW" - no_errors SMTN 6525 broad.mit.edu 36 22 29817458 29817458 + Silent SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 29817458 29817458 C T SNP SMTN NM_134270 human genbank 54_36p 1 reviewed silent c.1449 p.N483 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors LIMK2 3985 broad.mit.edu 36 22 29988653 29988653 + Silent SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 29988653 29988653 C T SNP LIMK2 NM_001031801 human genbank 54_36p 1 reviewed silent c.667 p.L223 1 NULL "HMMSmart_LIM,HMMPfam_LIM,superfamily_SSF57716,PatternScan_LIM_DOMAIN_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_PP1_inhibitor,superfamily_PP1_inhibitor" - no_errors LIMK2 3985 broad.mit.edu 36 22 29992052 29992052 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 22 29992052 29992052 C G SNP LIMK2 NM_001031801 human genbank 54_36p 1 reviewed missense c.912 p.I304M 1 superfamily_Kinase_like "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_PP1_inhibitor,superfamily_PP1_inhibitor,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF57716" - no_errors PIK3IP1 113791 broad.mit.edu 36 22 30009151 30009151 + Silent SNP C C G novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 30009151 30009151 C G SNP PIK3IP1 NM_052880 human genbank 54_36p -1 validated silent c.711 p.V237 1 NULL "superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1" - no_errors EIF4ENIF1 56478 broad.mit.edu 36 22 30165896 30165896 + Silent SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 30165896 30165896 G A SNP EIF4ENIF1 NM_019843 human genbank 54_36p -1 reviewed silent c.2928 p.I976 1 NULL HMMPfam_EIF4E-T - no_errors EIF4ENIF1 56478 broad.mit.edu 36 22 30165994 30165994 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 30165994 30165994 G A SNP EIF4ENIF1 NM_019843 human genbank 54_36p -1 reviewed missense c.2830 p.R944C 1 NULL HMMPfam_EIF4E-T - no_errors PISD 23761 broad.mit.edu 36 22 30345655 30345655 + Silent SNP A A G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 30345655 30345655 A G SNP PISD NM_014338 human genbank 54_36p -1 validated silent c.1071 p.N357 1 HMMPfam_PS_Dcarbxylase HMMPfam_PS_Dcarbxylase - no_errors DEPDC5 9681 broad.mit.edu 36 22 30492610 30492610 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 30492610 30492610 C T SNP DEPDC5 NM_014662 human genbank 54_36p 1 validated nonsense c.319 p.Q107* 1 NULL "superfamily_Winged helix DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" - no_errors DEPDC5 9681 broad.mit.edu 36 22 30583538 30583538 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 30583538 30583538 A G SNP DEPDC5 NM_014662 human genbank 54_36p 1 validated missense c.3236 p.K1079R 1 NULL "HMMPfam_DEP,HMMSmart_SM00049,superfamily_Winged helix DNA-binding domain" - no_errors C22orf42 150297 broad.mit.edu 36 22 30875766 30875766 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 30875766 30875766 G C SNP C22orf42 NM_001010859 human genbank 54_36p -1 provisional missense c.656 p.A219G 0 NULL NULL - no_errors RFPL2 10739 broad.mit.edu 36 22 30916896 30916896 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 30916896 30916896 C T SNP RFPL2 NM_006605 human genbank 54_36p -1 validated missense c.817 p.V273I 0 "HMMPfam_SPRY,HMMSmart_SM00449" "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449" - no_errors ISX 91464 broad.mit.edu 36 22 33793246 33793246 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 33793246 33793246 G T SNP ISX NM_001008494 human genbank 54_36p 1 validated missense c.166 p.G56C 0 superfamily_Homeodomain_like "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ISX 91464 broad.mit.edu 36 22 33811585 33811585 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 33811585 33811585 C A SNP ISX NM_001008494 human genbank 54_36p 1 validated missense c.637 p.P213T 0 NULL "HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1" - no_errors TOM1 10043 broad.mit.edu 36 22 34073161 34073161 + Nonsense_Mutation SNP A A T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 34073161 34073161 A T SNP TOM1 NM_005488 human genbank 54_36p 1 reviewed nonsense c.1438 p.K480* 0.98 NULL "superfamily_ENTH_VHS,HMMPfam_VHS,HMMSmart_VHS,superfamily_SSF89009,HMMPfam_GAT" - no_errors MCM5 4174 broad.mit.edu 36 22 34147330 34147332 + In_Frame_Del DEL CGC - CGC novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W CGC CGC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 22 34147330 34147332 CGC - DEL MCM5 NM_006739 human genbank 54_36p 1 reviewed in_frame_del c.1852_1854 p.R618in_frame_del 1.000:1.000:1.000 "HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases" "superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_MCM_1" "(deletion:cds_exon[34147311,34147453])" no_errors APOL1 8542 broad.mit.edu 36 22 34991401 34991401 + Silent SNP C C T novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 34991401 34991401 C T SNP APOL1 NM_145343 human genbank 54_36p 1 reviewed silent c.621 p.L207 0.07 HMMPfam_ApoL HMMPfam_ApoL - no_errors MYH9 4627 broad.mit.edu 36 22 35026157 35026157 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 35026157 35026157 G A SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed nonsense c.2938 p.Q980* 0.77 superfamily_Prefoldin "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS" - no_errors MYH9 4627 broad.mit.edu 36 22 35046799 35046799 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 35046799 35046799 C G SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed missense c.858 p.E286D 0.93 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_Regulator of G-protein signaling RGS,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NCF4 4689 broad.mit.edu 36 22 35601812 35601812 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 35601812 35601812 C A SNP NCF4 NM_013416 human genbank 54_36p 1 validated missense c.799 p.P267T 0 NULL "superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors CSF2RB 1439 broad.mit.edu 36 22 35662613 35662613 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 35662613 35662613 G A SNP CSF2RB NM_000395 human genbank 54_36p 1 reviewed nonsense c.1541 p.W514* 0 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1" - no_errors CSF2RB 1439 broad.mit.edu 36 22 35664095 35664095 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 35664095 35664095 G T SNP CSF2RB NM_000395 human genbank 54_36p 1 reviewed missense c.2299 p.V767L 0.88 NULL "PatternScan_HEMATOPO_REC_S_F1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" - no_errors SSTR3 6753 broad.mit.edu 36 22 35933009 35933009 + Silent SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 35933009 35933009 C A SNP SSTR3 NM_001051 human genbank 54_36p -1 reviewed silent c.780 p.V260 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CYTH4 27128 broad.mit.edu 36 22 36035259 36035259 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 36035259 36035259 C G SNP CYTH4 NM_013385 human genbank 54_36p 1 reviewed missense c.757 p.L253V 1 superfamily_Sec7 "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors GGA1 26088 broad.mit.edu 36 22 36351895 36351895 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 36351895 36351895 G A SNP GGA1 NM_013365 human genbank 54_36p 1 reviewed missense c.1086 p.M362I 1 NULL "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_GAT-like domain,HMMPfam_GAT,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809" - no_errors TRIOBP 11078 broad.mit.edu 36 22 36449344 36449344 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36449344 36449344 T C SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.835 p.S279P 0.1 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors TRIOBP 11078 broad.mit.edu 36 22 36450946 36450946 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 36450946 36450946 G A SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.2437 p.D813N 0 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors TRIOBP 11078 broad.mit.edu 36 22 36451808 36451808 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36451808 36451808 C T SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.3299 p.S1100F 0.95 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors TRIOBP 11078 broad.mit.edu 36 22 36451967 36451967 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36451967 36451967 C G SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.3458 p.S1153C 0.22 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors TRIOBP 11078 broad.mit.edu 36 22 36461253 36461253 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36461253 36461253 C G SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.4964 p.P1655R 0.73 NULL "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors TRIOBP 11078 broad.mit.edu 36 22 36481114 36481114 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36481114 36481114 G C SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.5548 p.V1850L 0.99 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors EIF3L 51386 broad.mit.edu 36 22 36596276 36596276 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36596276 36596276 C A SNP EIF3L NM_016091 human genbank 54_36p 1 validated missense c.727 p.Q243K 1 HMMPfam_Paf67 HMMPfam_Paf67 - no_errors MICALL1 85377 broad.mit.edu 36 22 36650624 36650624 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 36650624 36650624 G T SNP MICALL1 NM_033386 human genbank 54_36p 1 validated nonsense c.1036 p.E346* 0.7 NULL "HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology,superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors BAIAP2L2 80115 broad.mit.edu 36 22 36813120 36813121 + In_Frame_Ins INS - CATGGAGGT - novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W - - Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 22 36813120 36813121 - CATGGAGGT INS BAIAP2L2 NM_025045 human genbank 54_36p -1 validated in_frame_ins c.1216_1215 p.405in_frame_insTSM 0.020:0.025 superfamily_SH3-domain "HMMPfam_IMD,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2" - no_errors KCNJ4 3761 broad.mit.edu 36 22 37153490 37153490 + Silent SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 37153490 37153490 G A SNP KCNJ4 NM_004981 human genbank 54_36p -1 reviewed silent c.594 p.G198 1 "HMMPfam_IRK,superfamily_Ig_E-set" "superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set" - no_errors GTPBP1 9567 broad.mit.edu 36 22 37441971 37441971 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 37441971 37441971 G C SNP GTPBP1 NM_004286 human genbank 54_36p 1 reviewed missense c.418 p.A140P 0.99 NULL "superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_Elong_init_C,HMMPfam_GTP_EFTU_D3" - no_errors SUN2 25777 broad.mit.edu 36 22 37475757 37475757 + Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 37475757 37475757 T G SNP UNC84B NM_015374 human genbank 54_36p -1 validated missense c.574 p.T192P 1 NULL HMMPfam_Sad1_UNC - no_errors APOBEC3A 200315 broad.mit.edu 36 22 37683664 37683664 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 37683664 37683664 G A SNP APOBEC3A NM_145699 human genbank 54_36p 1 validated missense c.22 p.G8R 0 NULL "HMMPfam_APOBEC_N,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES,HMMPfam_APOBEC_C" - no_errors CACNA1I 8911 broad.mit.edu 36 22 38384912 38384912 + Silent SNP T T G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 38384912 38384912 T G SNP CACNA1I NM_021096 human genbank 54_36p 1 reviewed silent c.2175 p.G725 0.56 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors ENTHD1 150350 broad.mit.edu 36 22 38613688 38613688 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 38613688 38613688 C T SNP ENTHD1 NM_152512 human genbank 54_36p -1 provisional missense c.11 p.R4K 1 superfamily_ENTH/VHS domain "superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273" - no_errors ENTHD1 150350 broad.mit.edu 36 22 38613693 38613693 + Silent SNP C C T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 38613693 38613693 C T SNP ENTHD1 NM_152512 human genbank 54_36p -1 provisional silent c.6 p.A2 1 superfamily_ENTH/VHS domain "HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273" - no_errors TNRC6B 23112 broad.mit.edu 36 22 38991429 38991429 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 38991429 38991429 C G SNP TNRC6B NM_015088 human genbank 54_36p 1 validated missense c.1249 p.R417G 1 NULL "HMMPfam_Ago_hook,superfamily_SSF54928" - no_errors ADSL 158 broad.mit.edu 36 22 39075945 39075945 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 39075945 39075945 T C SNP ADSL NM_000026 human genbank 54_36p 1 reviewed missense c.317 p.I106T 1 "superfamily_L-aspartase-like,HMMPfam_Lyase_1" "superfamily_L-aspartase-like,HMMPfam_Lyase_1,PatternScan_FUMARATE_LYASES,HMMPfam_ADSL_C" - no_errors MKL1 57591 broad.mit.edu 36 22 39144836 39144836 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 39144836 39144836 G C SNP MKL1 NM_020831 human genbank 54_36p -1 validated missense c.1552 p.L518V 0.32 NULL "HMMSmart_RPEL,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" - no_errors MKL1 57591 broad.mit.edu 36 22 39155704 39155704 + Silent SNP C C T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 39155704 39155704 C T SNP MKL1 NM_020831 human genbank 54_36p -1 validated silent c.153 p.E51 1 NULL "HMMPfam_SAP,HMMSmart_SAP,HMMSmart_RPEL,superfamily_SSF68906" - no_errors MKL1 57591 broad.mit.edu 36 22 39157379 39157379 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 39157379 39157379 G C SNP MKL1 NM_020831 human genbank 54_36p -1 validated missense c.115 p.L39V 1 HMMSmart_RPEL "HMMPfam_SAP,HMMSmart_SAP,HMMSmart_RPEL,superfamily_SSF68906" - no_errors EP300 2033 broad.mit.edu 36 22 39894458 39894458 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 39894458 39894458 C T SNP EP300 NM_001429 human genbank 54_36p 1 reviewed nonsense c.3934 p.R1312* 1 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors L3MBTL2 83746 broad.mit.edu 36 22 39939923 39939923 + Missense_Mutation SNP T T G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 39939923 39939923 T G SNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated missense c.343 p.S115A 1 NULL "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT" - no_errors L3MBTL2 83746 broad.mit.edu 36 22 39953805 39953805 + Missense_Mutation SNP A A C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 39953805 39953805 A C SNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated missense c.1874 p.Q625P 1 NULL "HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT" - no_errors ZC3H7B 23264 broad.mit.edu 36 22 40056026 40056026 + Silent SNP A A T novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 40056026 40056026 A T SNP ZC3H7B NM_017590 human genbank 54_36p 1 reviewed silent c.498 p.R166 1 NULL "superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF90229,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,HMMSmart_ZnF_C2H2" - no_errors ZC3H7B 23264 broad.mit.edu 36 22 40082310 40082310 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 40082310 40082310 A G SNP ZC3H7B NM_017590 human genbank 54_36p 1 reviewed missense c.2401 p.T801A 1 NULL "HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,HMMPfam_TPR_1,HMMSmart_ZnF_C2H2,superfamily_SSF48452,superfamily_SSF90229" - no_errors ACO2 50 broad.mit.edu 36 22 40252281 40252281 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 40252281 40252281 G A SNP ACO2 NM_001098 human genbank 54_36p 1 reviewed missense c.1831 p.D611N 1 "superfamily_Aconitase/3IPM_dehydase_swvl,HMMPfam_Aconitase_C" "superfamily_Aconitase_N,HMMPfam_Aconitase,PatternScan_ACONITASE_1,PatternScan_ACONITASE_2,superfamily_Aconitase/3IPM_dehydase_swvl,HMMPfam_Aconitase_C" - no_errors CCDC134 79879 broad.mit.edu 36 22 40535924 40535924 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 40535924 40535924 G C SNP CCDC134 NM_024821 human genbank 54_36p 1 validated missense c.199 p.D67H 1 NULL NULL - no_errors CCDC134 79879 broad.mit.edu 36 22 40536209 40536209 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 40536209 40536209 G A SNP CCDC134 NM_024821 human genbank 54_36p 1 validated missense c.278 p.G93E 1 NULL NULL - no_errors WBP2NL 164684 broad.mit.edu 36 22 40724784 40724784 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 40724784 40724784 A T SNP WBP2NL NM_152613 human genbank 54_36p 1 validated missense c.16 p.S6C 0.99 NULL HMMPfam_WWbp - no_errors TCF20 6942 broad.mit.edu 36 22 40937616 40937616 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 40937616 40937616 G A SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed missense c.3640 p.P1214S 0.6 NULL HMMSmart_SM00249 - no_errors TCF20 6942 broad.mit.edu 36 22 40939690 40939690 + Silent SNP G G C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 40939690 40939690 G C SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed silent c.1566 p.G522 1 NULL HMMSmart_SM00249 - no_errors TCF20 6942 broad.mit.edu 36 22 40940142 40940142 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 40940142 40940142 G T SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed missense c.1114 p.P372T 1 NULL HMMSmart_SM00249 - no_errors TTLL12 23170 broad.mit.edu 36 22 41900461 41900461 + Missense_Mutation SNP A A C novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 41900461 41900461 A C SNP TTLL12 NM_015140 human genbank 54_36p -1 provisional missense c.1022 p.F341C 1 NULL HMMPfam_TTL - no_errors TTLL12 23170 broad.mit.edu 36 22 41902291 41902291 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 41902291 41902291 T G SNP TTLL12 NM_015140 human genbank 54_36p -1 provisional missense c.896 p.H299P 0 NULL HMMPfam_TTL - no_errors EFCAB6 64800 broad.mit.edu 36 22 42327310 42327310 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 22 42327310 42327310 G A SNP EFCAB6 NM_022785 human genbank 54_36p -1 validated nonsense c.2848 p.Q950* 0.94 NULL "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_DUF1880" - no_errors EFCAB6 64800 broad.mit.edu 36 22 42343043 42343043 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 42343043 42343043 G C SNP EFCAB6 NM_022785 human genbank 54_36p -1 validated missense c.2558 p.S853C 0.92 superfamily_EF-hand "HMMSmart_SM00054,HMMPfam_DUF1880,PatternScan_EF_HAND_1,superfamily_EF-hand" - no_errors EFCAB6 64800 broad.mit.edu 36 22 42399519 42399519 + Splice_Site SNP C C A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 42399519 42399519 C A SNP EFCAB6 NM_022785 human genbank 54_36p -1 validated splice_site c.1420-1 e12-1 0.01 - - - no_errors SULT4A1 25830 broad.mit.edu 36 22 42589571 42589572 + Missense_Mutation DNP GG GG CT novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 42589571 42589572 GG CT DNP SULT4A1 NM_014351 human genbank 54_36p -1 reviewed missense c.25_24 p.P9A 1.000:1.000 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1" - no_errors SAMM50 25813 broad.mit.edu 36 22 42703319 42703319 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 22 42703319 42703319 G A SNP SAMM50 NM_015380 human genbank 54_36p 1 validated missense c.700 p.E234K 1 HMMPfam_Bac_surface_Ag HMMPfam_Bac_surface_Ag - no_errors LDOC1L 84247 broad.mit.edu 36 22 43271643 43271643 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 43271643 43271643 A T SNP LDOC1L NM_032287 human genbank 54_36p -1 validated missense c.458 p.I153N 1 NULL NULL - no_errors LDOC1L 100131299 broad.mit.edu 36 22 43272056 43272056 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 43272056 43272056 T C SNP LOC100131299 XM_001717099 human genbank 54_36p 1 model missense c.922 p.C308R 0 NULL NULL - no_errors ATXN10 25814 broad.mit.edu 36 22 44467611 44467611 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 44467611 44467611 C G SNP ATXN10 NM_013236 human genbank 54_36p 1 validated missense c.380 p.S127C 0.24 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_Atx10homo_assoc" - no_errors WNT7B 7477 broad.mit.edu 36 22 44697494 44697494 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 44697494 44697494 G T SNP WNT7B NM_058238 human genbank 54_36p -1 reviewed missense c.956 p.T319N 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors WNT7B 7477 broad.mit.edu 36 22 44705751 44705751 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 44705751 44705751 G C SNP WNT7B NM_058238 human genbank 54_36p -1 reviewed missense c.461 p.A154G 1 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1" - no_errors GTSE1 51512 broad.mit.edu 36 22 45088481 45088481 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 45088481 45088481 C T SNP GTSE1 NM_016426 human genbank 54_36p 1 reviewed missense c.901 p.P301S 0 NULL NULL - no_errors CELSR1 9620 broad.mit.edu 36 22 45168795 45168795 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 45168795 45168795 A C SNP CELSR1 NM_014246 human genbank 54_36p -1 reviewed missense c.5872 p.W1958G 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors TBC1D22A 25771 broad.mit.edu 36 22 45886159 45886160 + Missense_Mutation DNP TT TT GC novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 45886159 45886160 TT GC DNP TBC1D22A NM_014346 human genbank 54_36p 1 provisional missense c.1421_1422 p.F474C 1.000:1.000 superfamily_Ypt/Rab-GAP domain of gyp1p "PatternScan_AA_TRNA_LIGASE_I,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors ZBED4 9889 broad.mit.edu 36 22 48666474 48666474 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 48666474 48666474 C G SNP ZBED4 NM_014838 human genbank 54_36p 1 validated missense c.3160 p.P1054A 0.83 NULL "HMMSmart_SM00614,HMMPfam_zf-BED,HMMPfam_hATC" - no_errors CRELD2 79174 broad.mit.edu 36 22 48705208 48705208 + Silent SNP T T A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 48705208 48705208 T A SNP CRELD2 NM_024324 human genbank 54_36p 1 validated silent c.1008 p.A336 0.07 NULL "superfamily_Growth factor receptor domain,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_LAM_1,HMMSmart_SM00261,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL" - no_errors TTLL8 164714 broad.mit.edu 36 22 48812614 48812614 + Silent SNP C C A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 48812614 48812614 C A SNP TTLL8 NM_001080447 human genbank 54_36p -1 provisional silent c.1335 p.V445 0 "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors TTLL8 164714 broad.mit.edu 36 22 48813919 48813919 + Silent SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 48813919 48813919 C A SNP TTLL8 NM_001080447 human genbank 54_36p -1 provisional silent c.1122 p.V374 1 "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors TTLL8 164714 broad.mit.edu 36 22 48825840 48825840 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 48825840 48825840 G T SNP TTLL8 NM_001080447 human genbank 54_36p -1 provisional missense c.614 p.A205D 0.02 NULL "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors MOV10L1 54456 broad.mit.edu 36 22 48888779 48888779 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 48888779 48888779 C G SNP MOV10L1 NM_018995 human genbank 54_36p 1 reviewed missense c.530 p.P177R 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors MOV10L1 54456 broad.mit.edu 36 22 48897863 48897863 + Silent SNP G G A novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 48897863 48897863 G A SNP MOV10L1 NM_018995 human genbank 54_36p 1 reviewed silent c.1410 p.A470 0 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TUBGCP6 85378 broad.mit.edu 36 22 49000210 49000210 + Silent SNP G G A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 49000210 49000210 G A SNP TUBGCP6 NM_020461 human genbank 54_36p -1 reviewed silent c.4305 p.Y1435 0.38 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors TUBGCP6 85378 broad.mit.edu 36 22 49001579 49001579 + Silent SNP G G A novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 49001579 49001579 G A SNP TUBGCP6 NM_020461 human genbank 54_36p -1 reviewed silent c.3336 p.N1112 0.03 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors TUBGCP6 85378 broad.mit.edu 36 22 49004795 49004796 + Missense_Mutation DNP CC CC TG novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49004795 49004796 CC TG DNP TUBGCP6 NM_020461 human genbank 54_36p -1 reviewed missense c.2172_2171 p.R724T 1.000:1.000 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors MAPK12 6300 broad.mit.edu 36 22 49035898 49035898 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49035898 49035898 C T SNP MAPK12 NM_002969 human genbank 54_36p -1 reviewed silent c.879 p.V293 0.99 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK" - no_errors PLXNB2 23654 broad.mit.edu 36 22 49062153 49062153 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49062153 49062153 C T SNP PLXNB2 NM_012401 human genbank 54_36p -1 validated missense c.3491 p.R1164Q 0.95 NULL "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors PLXNB2 23654 broad.mit.edu 36 22 49066380 49066380 + Silent SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 22 49066380 49066380 C T SNP PLXNB2 NM_012401 human genbank 54_36p -1 validated silent c.2064 p.Q688 1 NULL "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_IPT,HMMSmart_PSI,superfamily_Rho_GAP,HMMPfam_Plexin_cytopl,superfamily_Ig_E-set,superfamily_Plexin-like_fold" - no_errors PLXNB2 23654 broad.mit.edu 36 22 49066760 49066760 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 49066760 49066760 G T SNP PLXNB2 NM_012401 human genbank 54_36p -1 validated missense c.1846 p.R616S 1 HMMSmart_PSI "HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_IPT,HMMSmart_PSI,superfamily_Rho_GAP,HMMPfam_Plexin_cytopl,superfamily_Ig_E-set,superfamily_Plexin-like_fold" - no_errors PPP6R2 9701 broad.mit.edu 36 22 49204738 49204738 + Silent SNP C C T novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 22 49204738 49204738 C T SNP SAPS2 NM_014678 human genbank 54_36p 1 validated silent c.826 p.L276 0.97 HMMPfam_SAPS HMMPfam_SAPS - no_errors PPP6R2 9701 broad.mit.edu 36 22 49216601 49216601 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49216601 49216601 C T SNP SAPS2 NM_014678 human genbank 54_36p 1 validated missense c.1259 p.P420L 0 HMMPfam_SAPS HMMPfam_SAPS - no_errors SBF1 6305 broad.mit.edu 36 22 49246525 49246525 + Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49246525 49246525 G T SNP SBF1 NM_002972 human genbank 54_36p -1 validated missense c.2896 p.R966S 1 "HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like" "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMPfam_PH,HMMSmart_SM00233" - no_errors SBF1 6305 broad.mit.edu 36 22 49247919 49247919 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49247919 49247919 C A SNP SBF1 NM_002972 human genbank 54_36p -1 validated missense c.2062 p.G688W 1 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors SBF1 6305 broad.mit.edu 36 22 49249688 49249688 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49249688 49249688 C G SNP SBF1 NM_002972 human genbank 54_36p -1 validated missense c.1685 p.R562P 1 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors NCAPH2 29781 broad.mit.edu 36 22 49307644 49307644 + Nonsense_Mutation SNP G G T novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 49307644 49307644 G T SNP NCAPH2 NM_152299 human genbank 54_36p 1 validated nonsense c.1240 p.E414* 0 HMMPfam_DUF1032 HMMPfam_DUF1032 - no_errors TYMP 1890 broad.mit.edu 36 22 49313004 49313004 + Silent SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 49313004 49313004 C T SNP TYMP NM_001953 human genbank 54_36p -1 reviewed silent c.525 p.V175 0.33 "superfamily_Glyco_trans_3,HMMPfam_Glycos_transf_3" "superfamily_Glyco_trans_3,HMMPfam_Glycos_trans_3N,HMMPfam_Glycos_transf_3,PatternScan_THYMID_PHOSPHORYLASE,superfamily_PYNP_C,HMMPfam_PYNP_C" - no_errors CHKB 1120 broad.mit.edu 36 22 49364798 49364799 + Nonsense_Mutation DNP CA CA AC novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W CA CA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49364798 49364799 CA AC DNP CHKB NM_005198 human genbank 54_36p -1 reviewed nonsense c.1036_1035 p.YAL345* 1.000:1.000 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMPfam_Choline_kinase" - no_errors CHKB 1120 broad.mit.edu 36 22 49366845 49366845 + Silent SNP G G T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49366845 49366845 G T SNP CHKB NM_005198 human genbank 54_36p -1 reviewed silent c.451 p.R151 1 "HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like)" "HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like)" - no_errors CHKB 1120 broad.mit.edu 36 22 49367155 49367155 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 22 49367155 49367155 G A SNP CHKB NM_005198 human genbank 54_36p -1 reviewed silent c.336 p.G112 0.8 "HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like)" "HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like)" - no_errors GYG2 8908 broad.mit.edu 36 X 2784571 2784571 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 2784571 2784571 A T SNP GYG2 NM_003918 human genbank 54_36p 1 validated missense c.613 p.R205W 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" - no_errors MXRA5 25878 broad.mit.edu 36 X 3238653 3238653 + Missense_Mutation SNP G G C rs1726208 "by-cluster,by-frequency,by-1000genomes" TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 3238653 3238653 G C SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.7591 p.L2531V 0.62 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409" "HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set" - no_errors MXRA5 25878 broad.mit.edu 36 X 3251097 3251097 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx X 3251097 3251097 G C SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.2629 p.P877A 0.02 NULL "HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors MXRA5 25878 broad.mit.edu 36 X 3252751 3252751 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 3252751 3252751 C A SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.975 p.E325D 1 NULL "HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors MXRA5 25878 broad.mit.edu 36 X 3271695 3271695 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 3271695 3271695 G C SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.180 p.I60M 1 "HMMSmart_SM00369,superfamily_L domain-like" "HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors NLGN4X 57502 broad.mit.edu 36 X 5821458 5821458 + Silent SNP G G A novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 5821458 5821458 G A SNP NLGN4X NM_020742 human genbank 54_36p -1 reviewed silent c.1851 p.D617 1 NULL "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2" - no_errors NLGN4X 57502 broad.mit.edu 36 X 5831627 5831627 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 5831627 5831627 G T SNP NLGN4X NM_020742 human genbank 54_36p -1 reviewed missense c.1092 p.N364K 1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases" - no_errors KAL1 3730 broad.mit.edu 36 X 8513413 8513413 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 8513413 8513413 T A SNP KAL1 NM_000216 human genbank 54_36p -1 reviewed missense c.751 p.T251S 0.96 "superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" "superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors GPR143 4935 broad.mit.edu 36 X 9671619 9671619 + Silent SNP C C A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 9671619 9671619 C A SNP GPR143 NM_000273 human genbank 54_36p -1 reviewed silent c.813 p.L271 1 HMMPfam_Ocular_alb HMMPfam_Ocular_alb - no_errors SHROOM2 357 broad.mit.edu 36 X 9860829 9860829 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 9860829 9860829 C T SNP SHROOM2 NM_001649 human genbank 54_36p 1 reviewed missense c.3506 p.S1169L 0.42 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2" - no_errors WWC3 55841 broad.mit.edu 36 X 10022214 10022214 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 10022214 10022214 G A SNP WWC3 NM_015691 human genbank 54_36p 1 validated missense c.550 p.V184I 0.17 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors WWC3 55841 broad.mit.edu 36 X 10044547 10044547 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 10044547 10044547 G T SNP WWC3 NM_015691 human genbank 54_36p 1 validated missense c.1064 p.S355I 1 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors WWC3 55841 broad.mit.edu 36 X 10045308 10045308 + Silent SNP C C G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 10045308 10045308 C G SNP WWC3 NM_015691 human genbank 54_36p 1 validated silent c.1209 p.P403 0.01 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors WWC3 55841 broad.mit.edu 36 X 10056631 10056631 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 10056631 10056631 C T SNP WWC3 NM_015691 human genbank 54_36p 1 validated missense c.2315 p.A772V 1 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors MID1 4281 broad.mit.edu 36 X 10397842 10397842 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 10397842 10397842 C G SNP MID1 NM_000381 human genbank 54_36p -1 reviewed missense c.1180 p.A394P 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" ############################################################################################################################################################################################################################################################### - no_errors FRMPD4 9758 broad.mit.edu 36 X 12622478 12622478 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 12622478 12622478 A G SNP FRMPD4 NM_014728 human genbank 54_36p 1 validated missense c.917 p.E306G 1 "HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" "PatternScan_WW_DOMAIN_1,PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M" - no_errors FRMPD4 9758 broad.mit.edu 36 X 12644682 12644682 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 12644682 12644682 C T SNP FRMPD4 NM_014728 human genbank 54_36p 1 validated missense c.2183 p.A728V 0.53 NULL "PatternScan_WW_DOMAIN_1,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41" - no_errors FRMPD4 9758 broad.mit.edu 36 X 12645760 12645760 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 12645760 12645760 C A SNP FRMPD4 NM_014728 human genbank 54_36p 1 validated missense c.2894 p.P965Q 0.89 NULL "PatternScan_WW_DOMAIN_1,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41" - no_errors RAB9A 9367 broad.mit.edu 36 X 13637199 13637199 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 13637199 13637199 C T SNP RAB9A NM_004251 human genbank 54_36p 1 provisional missense c.413 p.A138V 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors GPM6B 2824 broad.mit.edu 36 X 13702662 13702662 + Silent SNP C C A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 13702662 13702662 C A SNP GPM6B NM_001001996 human genbank 54_36p -1 validated silent c.840 p.L280 1 HMMPfam_Myelin_PLP "HMMPfam_Myelin_PLP,PatternScan_MYELIN_PLP_1,HMMSmart_PLP,PatternScan_MYELIN_PLP_2" - no_errors PIGA 5277 broad.mit.edu 36 X 15259426 15259426 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 15259426 15259426 C T SNP PIGA NM_002641 human genbank 54_36p -1 reviewed missense c.548 p.C183Y 1 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase "superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_PIGA,HMMPfam_Glycos_transf_1" - no_errors FIGF 2277 broad.mit.edu 36 X 15286135 15286135 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 15286135 15286135 G A SNP FIGF NM_004469 human genbank 54_36p -1 reviewed missense c.403 p.P135S 1 "superfamily_Cystine-knot cytokines,HMMSmart_SM00141,HMMPfam_PDGF,PatternScan_PDGF_1" "superfamily_Cystine-knot cytokines,HMMSmart_SM00141,HMMPfam_PDGF,PatternScan_PDGF_1" - no_errors PIR 8544 broad.mit.edu 36 X 15407826 15407826 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 15407826 15407826 T C SNP PIR NM_001018109 human genbank 54_36p -1 reviewed missense c.136 p.K46E 1 "superfamily_RmlC_like_cupin,HMMPfam_Pirin" "superfamily_RmlC_like_cupin,HMMPfam_Pirin,HMMPfam_Pirin_C" - no_errors BMX 660 broad.mit.edu 36 X 15458069 15458069 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 15458069 15458069 A C SNP BMX NM_001721 human genbank 54_36p 1 validated missense c.937 p.K313Q 1 "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors ACE2 59272 broad.mit.edu 36 X 15503803 15503803 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 15503803 15503803 A G SNP ACE2 NM_021804 human genbank 54_36p -1 reviewed missense c.1349 p.L450P 1 "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ACE2 59272 broad.mit.edu 36 X 15506329 15506329 + Silent SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 15506329 15506329 G A SNP ACE2 NM_021804 human genbank 54_36p -1 reviewed silent c.1101 p.D367 1 "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ZRSR2 8233 broad.mit.edu 36 X 15751193 15751193 + Silent SNP C C G novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 15751193 15751193 C G SNP ZRSR2 NM_005089 human genbank 54_36p 1 reviewed silent c.1356 p.R452 0.01 NULL "HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928,HMMSmart_RRM" - no_errors GRPR 2925 broad.mit.edu 36 X 16078664 16078664 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx X 16078664 16078664 T A SNP GRPR NM_005314 human genbank 54_36p 1 reviewed missense c.729 p.N243K 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CTPS2 56474 broad.mit.edu 36 X 16606455 16606455 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 16606455 16606455 C T SNP CTPS2 NM_019857 human genbank 54_36p -1 reviewed missense c.1045 p.E349K 0.71 "superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase" - no_errors RBBP7 5931 broad.mit.edu 36 X 16780622 16780622 + Silent SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 16780622 16780622 G A SNP RBBP7 NM_002893 human genbank 54_36p -1 reviewed silent c.936 p.F312 0.98 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors RBBP7 5931 broad.mit.edu 36 X 16780669 16780669 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 16780669 16780669 C A SNP RBBP7 NM_002893 human genbank 54_36p -1 reviewed missense c.889 p.V297L 1 "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" "HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors REPS2 9185 broad.mit.edu 36 X 17063308 17063308 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 17063308 17063308 G T SNP REPS2 NM_004726 human genbank 54_36p 1 reviewed missense c.1666 p.V556L 0 NULL "superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1" - no_errors SCML1 6322 broad.mit.edu 36 X 17678068 17678068 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 17678068 17678068 G A SNP SCML1 NM_001037540 human genbank 54_36p 1 validated missense c.437 p.R146H 0 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" - no_errors BEND2 139105 broad.mit.edu 36 X 18131659 18131659 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 18131659 18131659 G A SNP BEND2 NM_153346 human genbank 54_36p -1 validated nonsense c.790 p.R264* 0 NULL HMMPfam_BEN - no_errors RS1 6247 broad.mit.edu 36 X 18570134 18570134 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 18570134 18570134 A C SNP RS1 NM_000330 human genbank 54_36p -1 reviewed missense c.586 p.S196A 0.97 "HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C" "PatternScan_FA58C_2,HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1" - no_errors RS1 6247 broad.mit.edu 36 X 18572495 18572495 + Nonsense_Mutation SNP G G C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 18572495 18572495 G C SNP RS1 NM_000330 human genbank 54_36p -1 reviewed nonsense c.498 p.Y166* 1 "HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like" "HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Gal_bind_like" - no_errors CDKL5 6792 broad.mit.edu 36 X 18574089 18574089 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 18574089 18574089 C A SNP CDKL5 NM_001037343 human genbank 54_36p 1 reviewed missense c.2755 p.P919T 0.02 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CDKL5 6792 broad.mit.edu 36 X 18578623 18578623 + Silent SNP C C A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 18578623 18578623 C A SNP CDKL5 NM_001037343 human genbank 54_36p 1 reviewed silent c.2970 p.T990 0 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors PHKA2 5256 broad.mit.edu 36 X 18879229 18879248 + Frame_Shift_Del DEL GTGCCACAGGTGGCGGTGTT - GTGCCACAGGTGGCGGTGTT novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D GTGCCACAGGTGGCGGTGTT GTGCCACAGGTGGCGGTGTT - - GTGCCACAGGTGGCGGTGTT GTGCCACAGGTGGCGGTGTT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 18879229 18879248 GTGCCACAGGTGGCGGTGTT - DEL PHKA2 NM_000292 human genbank 54_36p -1 validated frame_shift_del c.368_349 p.N117fs 0.999:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.887:0.401:0.996:1.000:1.000:1.000:1.000 "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" "(deletion:cds_exon[18879143,18879311])" no_errors PDHA1 5160 broad.mit.edu 36 X 19277365 19277365 + Silent SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 19277365 19277365 G A SNP PDHA1 NM_000284 human genbank 54_36p 1 validated silent c.72 p.L24 0.99 NULL "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_E1_dh" - no_errors MAP3K15 389840 broad.mit.edu 36 X 19290873 19290873 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 19290873 19290873 C G SNP MAP3K15 NM_001001671 human genbank 54_36p -1 validated missense c.2008 p.V670L 0.99 NULL "HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology" - no_errors CXorf23 256643 broad.mit.edu 36 X 19893693 19893693 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 19893693 19893693 T C SNP CXorf23 NM_198279 human genbank 54_36p -1 validated missense c.664 p.K222E 0.92 NULL NULL - no_errors EIF1AX 1964 broad.mit.edu 36 X 20066663 20066663 + Splice_Site SNP T T G novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 20066663 20066663 T G SNP EIF1AX NM_001412 human genbank 54_36p -1 reviewed splice_site c.17-2 e2-2 1 - - - no_errors RPS6KA3 6197 broad.mit.edu 36 X 20104380 20104380 + Silent SNP T T C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 20104380 20104380 T C SNP RPS6KA3 NM_004586 human genbank 54_36p -1 reviewed silent c.1011 p.R337 1 "superfamily_Kinase_like,HMMSmart_S_TK_X" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors KLHL34 257240 broad.mit.edu 36 X 21584171 21584171 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 21584171 21584171 G C SNP KLHL34 NM_153270 human genbank 54_36p -1 provisional missense c.1657 p.R553G 1 "superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors SMS 6611 broad.mit.edu 36 X 21905271 21905271 + Silent SNP T T C novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 21905271 21905271 T C SNP SMS NM_004595 human genbank 54_36p 1 reviewed silent c.501 p.D167 1 "HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_SPERMIDINE_SYNTHASE_1" - no_errors SMS 6611 broad.mit.edu 36 X 21906034 21906034 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 21906034 21906034 A T SNP SMS NM_004595 human genbank 54_36p 1 reviewed missense c.541 p.I181F 1 "HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_Spermine_synth,PatternScan_SPERMIDINE_SYNTHASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors PTCHD1 139411 broad.mit.edu 36 X 23321698 23321698 + Silent SNP G G T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 23321698 23321698 G T SNP PTCHD1 NM_173495 human genbank 54_36p 1 validated silent c.2142 p.S714 0.99 "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors ACOT9 23597 broad.mit.edu 36 X 23633874 23633874 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 23633874 23633874 C A SNP ACOT9 NM_001037171 human genbank 54_36p -1 validated missense c.865 p.V289F 0.95 NULL superfamily_Thioesterase/thiol ester dehydrase-isomerase - no_errors FAM48B2 170067 broad.mit.edu 36 X 24239592 24239592 + 3'Flank SNP A A T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 24239592 24239592 A T SNP ENSG00000222188 ENST00000410256 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*24877 NULL 0 - - - no_errors FAM48B2 170067 broad.mit.edu 36 X 24239593 24239593 + 3'Flank SNP A A C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 24239593 24239593 A C SNP ENSG00000222188 ENST00000410256 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*24878 NULL 0 - - - no_errors FAM48B1 100130302 broad.mit.edu 36 X 24292685 24292685 + 3'Flank SNP T T C novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 24292685 24292685 T C SNP ENSG00000216877 ENST00000401462 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*933 NULL 0 - - - no_coding_region:pseudogene POLA1 5422 broad.mit.edu 36 X 24737953 24737953 + Silent SNP A A G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 24737953 24737953 A G SNP POLA1 NM_016937 human genbank 54_36p 1 validated silent c.2964 p.K988 1 "HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B" "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B,HMMPfam_zf-DNA_Pol,superfamily_SSF90234" - no_errors MAGEB6 158809 broad.mit.edu 36 X 26122021 26122021 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 26122021 26122021 G A SNP MAGEB6 NM_173523 human genbank 54_36p 1 reviewed missense c.137 p.R46H 0 NULL HMMPfam_MAGE - no_errors MAGEB6 158809 broad.mit.edu 36 X 26122301 26122301 + Silent SNP C C A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 26122301 26122301 C A SNP MAGEB6 NM_173523 human genbank 54_36p 1 reviewed silent c.417 p.S139 0 NULL HMMPfam_MAGE - no_errors DCAF8L1 139425 broad.mit.edu 36 X 27908693 27908693 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 27908693 27908693 C G SNP WDR42B NM_001017930 human genbank 54_36p -1 provisional missense c.680 p.R227P 0.19 "superfamily_WD40_like,HMMSmart_WD40" "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" - no_errors MAGEB2 4113 broad.mit.edu 36 X 30146685 30146685 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 30146685 30146685 C T SNP MAGEB2 NM_002364 human genbank 54_36p 1 reviewed missense c.67 p.R23W 0 NULL HMMPfam_MAGE - no_errors MAGEB4 4115 broad.mit.edu 36 X 30170960 30170960 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 30170960 30170960 A C SNP MAGEB4 NM_002367 human genbank 54_36p 1 reviewed missense c.787 p.S263R 0.02 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAGEB1 4112 broad.mit.edu 36 X 30179302 30179302 + Silent SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 30179302 30179302 C T SNP MAGEB1 NM_002363 human genbank 54_36p 1 reviewed silent c.771 p.Y257 0.01 HMMPfam_MAGE HMMPfam_MAGE - no_errors DMD 1756 broad.mit.edu 36 X 31075420 31075420 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 31075420 31075420 G T SNP DMD NM_004006 human genbank 54_36p -1 reviewed missense c.10690 p.L3564I 1 superfamily_Prefoldin ############################################################################################################################################################################################################################################################### - no_errors DMD 1756 broad.mit.edu 36 X 31075451 31075451 + Silent SNP G G T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 31075451 31075451 G T SNP DMD NM_004006 human genbank 54_36p -1 reviewed silent c.10659 p.P3553 1 superfamily_Prefoldin ############################################################################################################################################################################################################################################################### - no_errors FAM47A 158724 broad.mit.edu 36 X 34058180 34058180 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 34058180 34058180 G T SNP FAM47A NM_203408 human genbank 54_36p -1 predicted missense c.2137 p.P713T 0.89 NULL NULL - no_errors FAM47A 158724 broad.mit.edu 36 X 34058268 34058268 + Silent SNP C C T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 34058268 34058268 C T SNP FAM47A NM_203408 human genbank 54_36p -1 predicted silent c.2049 p.S683 0 NULL NULL - no_errors FAM47A 158724 broad.mit.edu 36 X 34059579 34059614 + In_Frame_Del DEL ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG - ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 34059579 34059614 ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG - DEL FAM47A NM_203408 human genbank 54_36p -1 predicted in_frame_del c.738_703 p.LRPEPPETGVSH235in_frame_del 0.639:0.651:0.670:0.695:0.718:0.741:0.752:0.778:0.803:0.806:0.815:0.810:0.804:0.802:0.778:0.778:0.760:0.706:0.665:0.663:0.636:0.539:0.518:0.506:0.497:0.492:0.495:0.475:0.455:0.445:0.437:0.395:0.388:0.384:0.387:0.389 NULL NULL "(deletion:cds_exon[34057941,34060316])" no_errors FAM47A 158724 broad.mit.edu 36 X 34059642 34059642 + Silent SNP C C T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 34059642 34059642 C T SNP FAM47A NM_203408 human genbank 54_36p -1 predicted silent c.675 p.P225 0.76 NULL NULL - no_errors FAM47A 158724 broad.mit.edu 36 X 34060102 34060102 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 34060102 34060102 C T SNP FAM47A NM_203408 human genbank 54_36p -1 predicted missense c.215 p.R72H 0 NULL NULL - no_errors FAM47B 170062 broad.mit.edu 36 X 34871741 34871741 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 34871741 34871741 G A SNP FAM47B NM_152631 human genbank 54_36p 1 predicted missense c.872 p.R291H 0.02 NULL NULL - no_errors MAGEB16 139604 broad.mit.edu 36 X 35730701 35730701 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 35730701 35730701 T G SNP MAGEB16 NM_001099921 human genbank 54_36p 1 provisional missense c.467 p.L156R 0.02 HMMPfam_MAGE HMMPfam_MAGE - no_errors FAM47C 442444 broad.mit.edu 36 X 36936626 36936626 + Silent SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 36936626 36936626 C T SNP FAM47C NM_001013736 human genbank 54_36p 1 provisional silent c.222 p.D74 0 NULL NULL - no_errors FAM47C 442444 broad.mit.edu 36 X 36938588 36938588 + Silent SNP G G A novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 36938588 36938588 G A SNP FAM47C NM_001013736 human genbank 54_36p 1 provisional silent c.2184 p.P728 0.23 NULL NULL - no_errors FAM47C 442444 broad.mit.edu 36 X 36938862 36938862 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 36938862 36938862 G A SNP FAM47C NM_001013736 human genbank 54_36p 1 provisional missense c.2458 p.G820R 0.03 NULL NULL - no_errors RPGR 6103 broad.mit.edu 36 X 38067608 38067608 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 38067608 38067608 C A SNP RPGR NM_001034853 human genbank 54_36p -1 reviewed missense c.142 p.A48S 1 "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2" "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1" - no_errors TSPAN7 7102 broad.mit.edu 36 X 38415583 38415583 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 38415583 38415583 T A SNP TSPAN7 NM_004615 human genbank 54_36p 1 reviewed missense c.280 p.F94I 1 HMMPfam_Tetraspannin "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors BCOR 54880 broad.mit.edu 36 X 39801518 39801518 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 39801518 39801518 C A SNP BCOR NM_017745 human genbank 54_36p -1 reviewed nonsense c.4327 p.E1443* 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors CXorf38 159013 broad.mit.edu 36 X 40381332 40381332 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 40381332 40381332 C G SNP CXorf38 NM_144970 human genbank 54_36p -1 predicted missense c.492 p.E164D 1 NULL NULL - no_errors USP9X 8239 broad.mit.edu 36 X 40960499 40960499 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 40960499 40960499 A G SNP USP9X NM_001039590 human genbank 54_36p 1 reviewed missense c.5735 p.D1912G 1 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors CASK 8573 broad.mit.edu 36 X 41275294 41275294 + Silent SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 41275294 41275294 G A SNP CASK NM_003688 human genbank 54_36p -1 validated silent c.2415 p.S805 1 "superfamily_SSF52540,HMMSmart_GuKc,HMMPfam_Guanylate_kin" ############################################################################################################################################################################################################################################################### - no_errors GPR34 2857 broad.mit.edu 36 X 41440897 41440897 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 41440897 41440897 C G SNP GPR34 NM_001097579 human genbank 54_36p 1 validated missense c.1067 p.T356S 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR82 27197 broad.mit.edu 36 X 41471553 41471553 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 41471553 41471553 A C SNP GPR82 NM_080817 human genbank 54_36p 1 provisional missense c.330 p.L110F 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors EFHC2 80258 broad.mit.edu 36 X 43922724 43922724 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 43922724 43922724 G T SNP EFHC2 NM_025184 human genbank 54_36p -1 validated missense c.1782 p.N594K 0 superfamily_EF-hand "HMMSmart_SM00676,HMMPfam_DUF1126,superfamily_EF-hand" - no_errors NDUFB11 54539 broad.mit.edu 36 X 46888878 46888878 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 46888878 46888878 G T SNP NDUFB11 NM_019056 human genbank 54_36p -1 validated missense c.145 p.P49T 0 HMMPfam_ESSS HMMPfam_ESSS - no_errors UBA1 7317 broad.mit.edu 36 X 46950616 46950616 + Silent SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 46950616 46950616 C G SNP UBA1 NM_003334 human genbank 54_36p 1 reviewed silent c.1767 p.V589 1 "superfamily_MoeB,HMMPfam_ThiF" "superfamily_MoeB,HMMPfam_ThiF,PatternScan_UBIQUITIN_ACTIVAT_1,HMMPfam_UBA_e1_thiolCys,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_UBA_e1_C" - no_errors ZNF41 7592 broad.mit.edu 36 X 47192031 47192031 + Silent SNP A A G novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 47192031 47192031 A G SNP ZNF41 NM_007130 human genbank 54_36p -1 reviewed silent c.2082 p.G694 0.1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARAF 369 broad.mit.edu 36 X 47315352 47315352 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 47315352 47315352 C T SNP ARAF NM_001654 human genbank 54_36p 1 validated silent c.1683 p.P561 0.99 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_SSF54236,HMMPfam_RBD,HMMSmart_RBD,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ELK1 2002 broad.mit.edu 36 X 47383596 47383596 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 47383596 47383596 C A SNP ELK1 NM_005229 human genbank 54_36p -1 reviewed missense c.296 p.C99F 0.36 superfamily_Winged helix DNA-binding domain "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors SLC38A5 92745 broad.mit.edu 36 X 48203075 48203075 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48203075 48203075 G C SNP SLC38A5 NM_033518 human genbank 54_36p -1 validated missense c.1200 p.I400M 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors TBC1D25 4943 broad.mit.edu 36 X 48302238 48302238 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1328-01A-01W TCGA-25-1328-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48302238 48302238 T C SNP TBC1D25 NM_002536 human genbank 54_36p 1 validated missense c.398 p.L133P 1 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors RBM3 5935 broad.mit.edu 36 X 48319938 48319938 + Splice_Site SNP T T G novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48319938 48319938 T G SNP RBM3 NM_006743 human genbank 54_36p 1 reviewed splice_site c.413+2 e4+2 0.88 - - - no_errors WAS 7454 broad.mit.edu 36 X 48432310 48432310 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48432310 48432310 C T SNP WAS NM_000377 human genbank 54_36p 1 reviewed missense c.1249 p.P417S 0.92 NULL "superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_PBD,HMMSmart_PBD,superfamily_WASP_C,HMMPfam_WH2,HMMSmart_WH2" - no_errors HDAC6 10013 broad.mit.edu 36 X 48549720 48549720 + Silent SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 48549720 48549720 C T SNP HDAC6 NM_006044 human genbank 54_36p 1 reviewed silent c.439 p.L147 1 "superfamily_SSF52768,HMMPfam_Hist_deacetyl" "superfamily_SSF52768,HMMPfam_Hist_deacetyl,HMMSmart_ZnF_UBP,HMMPfam_zf-UBP" - no_errors HDAC6 10013 broad.mit.edu 36 X 48559520 48559520 + Silent SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48559520 48559520 T C SNP HDAC6 NM_006044 human genbank 54_36p 1 reviewed silent c.1522 p.L508 0.15 "HMMPfam_Hist_deacetyl,superfamily_SSF52768" "HMMPfam_Hist_deacetyl,HMMPfam_zf-UBP,HMMSmart_ZnF_UBP,superfamily_SSF52768" - no_errors PQBP1 10084 broad.mit.edu 36 X 48643523 48643524 + Splice_Site DNP GT GT CA novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 GT GT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 48643523 48643524 GT CA DNP PQBP1 NM_001032381 human genbank 54_36p 1 validated splice_site c.179+1_179+1 e2+1 1.000:1.000 - - - no_errors PQBP1 10084 broad.mit.edu 36 X 48644547 48644547 + Missense_Mutation SNP A A G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 48644547 48644547 A G SNP PQBP1 NM_001032381 human genbank 54_36p 1 validated missense c.386 p.D129G 0.94 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW" - no_errors KCND1 3750 broad.mit.edu 36 X 48704872 48704872 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48704872 48704872 C T SNP KCND1 NM_004979 human genbank 54_36p -1 reviewed missense c.1858 p.G620S 0 NULL "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors GRIPAP1 56850 broad.mit.edu 36 X 48740838 48740838 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48740838 48740838 G T SNP GRIPAP1 NM_020137 human genbank 54_36p -1 validated missense c.65 p.T22K 1 NULL superfamily_Prefoldin - no_errors TFE3 7030 broad.mit.edu 36 X 48777971 48777971 + Silent SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48777971 48777971 G A SNP TFE3 NM_006521 human genbank 54_36p -1 provisional silent c.1089 p.N363 1 "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors TFE3 7030 broad.mit.edu 36 X 48782717 48782717 + Silent SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 48782717 48782717 C T SNP TFE3 NM_006521 human genbank 54_36p -1 provisional silent c.729 p.A243 1 NULL "HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic" - no_errors CCDC120 90060 broad.mit.edu 36 X 48812186 48812186 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 48812186 48812186 G A SNP CCDC120 NM_033626 human genbank 54_36p 1 provisional missense c.1487 p.S496N 0.3 NULL NULL - no_errors WDR45 11152 broad.mit.edu 36 X 48820247 48820247 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48820247 48820247 G T SNP WDR45 NM_007075 human genbank 54_36p -1 reviewed nonsense c.629 p.S210* 1 "superfamily_WD40_like,HMMSmart_WD40" "HMMSmart_WD40,superfamily_WD40_like" - no_errors GPKOW 27238 broad.mit.edu 36 X 48863011 48863011 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48863011 48863011 G T SNP GPKOW NM_015698 human genbank 54_36p -1 provisional missense c.557 p.T186N 1 "HMMSmart_G_patch,HMMPfam_G-patch" "HMMSmart_G_patch,HMMPfam_G-patch,HMMSmart_KOW,HMMPfam_KOW" - no_errors GPKOW 27238 broad.mit.edu 36 X 48865947 48865947 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48865947 48865947 C T SNP GPKOW NM_015698 human genbank 54_36p -1 provisional silent c.300 p.V100 0.82 NULL "HMMPfam_G-patch,HMMSmart_G_patch,HMMPfam_KOW,HMMSmart_KOW" - no_errors SYP 6855 broad.mit.edu 36 X 48936733 48936733 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 48936733 48936733 C G SNP SYP NM_003179 human genbank 54_36p -1 reviewed missense c.555 p.Q185H 0.07 HMMPfam_MARVEL "HMMPfam_MARVEL,PatternScan_SYNAPTOP" - no_errors CACNA1F 778 broad.mit.edu 36 X 48951974 48951974 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 48951974 48951974 C T SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed missense c.5101 p.G1701R 0 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1F 778 broad.mit.edu 36 X 48954002 48954002 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 48954002 48954002 C A SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed missense c.4510 p.A1504S 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1F 778 broad.mit.edu 36 X 48970015 48970015 + Splice_Site SNP C C G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 48970015 48970015 C G SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed splice_site c.1402+1 e10+1 0.98 - - - no_errors PPP1R3F 89801 broad.mit.edu 36 X 49029240 49029240 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 49029240 49029240 G C SNP PPP1R3F NM_033215 human genbank 54_36p 1 validated missense c.1144 p.V382L 1 NULL HMMPfam_CBM_21 - no_errors CLCN5 1184 broad.mit.edu 36 X 49743532 49743532 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 49743532 49743532 G T SNP CLCN5 NM_000084 human genbank 54_36p 1 reviewed missense c.2157 p.L719F 0.76 "HMMPfam_CBS,superfamily_CBS-domain,HMMSmart_SM00116" "superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMSmart_SM00116,HMMPfam_CBS" - no_errors CCNB3 85417 broad.mit.edu 36 X 50054721 50054721 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 50054721 50054721 G A SNP CCNB3 NM_033031 human genbank 54_36p 1 reviewed missense c.323 p.R108Q 0 NULL "superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors CCNB3 85417 broad.mit.edu 36 X 50068991 50068991 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 50068991 50068991 C T SNP CCNB3 NM_033031 human genbank 54_36p 1 reviewed missense c.1082 p.S361F 0 NULL "HMMPfam_Cyclin_C,HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like" - no_errors DGKK 139189 broad.mit.edu 36 X 50139449 50139449 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 50139449 50139449 C G SNP DGKK ENST00000376025 human ensembl 54_36p -1 known missense c.2778 p.L926F 1 "HMMPfam_DAGK_acc,HMMSmart_SM00045" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors BMP15 9210 broad.mit.edu 36 X 50675797 50675797 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 50675797 50675797 A T SNP BMP15 NM_005448 human genbank 54_36p 1 reviewed missense c.629 p.Q210L 0.42 NULL "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors CXorf67 340602 broad.mit.edu 36 X 51167567 51167567 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 51167567 51167567 G A SNP LOC340602 NM_203407 human genbank 54_36p 1 predicted missense c.959 p.G320D 0.09 NULL NULL - no_errors CXorf67 340602 broad.mit.edu 36 X 51168089 51168089 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 51168089 51168089 C T SNP LOC340602 NM_203407 human genbank 54_36p 1 predicted missense c.1481 p.T494I 0 NULL NULL - no_errors GSPT2 23708 broad.mit.edu 36 X 51503510 51503510 + Silent SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 51503510 51503510 C T SNP GSPT2 NM_018094 human genbank 54_36p 1 validated silent c.48 p.D16 0.9 NULL "HMMPfam_PAM2,superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C" - no_errors MAGED1 9500 broad.mit.edu 36 X 51656346 51656346 + Silent SNP G G A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 51656346 51656346 G A SNP MAGED1 NM_001005333 human genbank 54_36p 1 reviewed silent c.1023 p.Q341 1 NULL HMMPfam_MAGE - no_errors MAGED1 9500 broad.mit.edu 36 X 51656376 51656376 + Silent SNP C C G novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 51656376 51656376 C G SNP MAGED1 NM_001005333 human genbank 54_36p 1 reviewed silent c.1053 p.L351 0.99 NULL HMMPfam_MAGE - no_errors XAGE5 170627 broad.mit.edu 36 X 52860880 52860880 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 52860880 52860880 C A SNP XAGE5 NM_130775 human genbank 54_36p 1 reviewed nonsense c.218 p.S73* 0.1 HMMPfam_GAGE HMMPfam_GAGE - no_errors GPR173 54328 broad.mit.edu 36 X 53122750 53122750 + Silent SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 53122750 53122750 C T SNP GPR173 NM_018969 human genbank 54_36p 1 validated silent c.222 p.V74 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR173 54328 broad.mit.edu 36 X 53122815 53122815 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 53122815 53122815 G T SNP GPR173 NM_018969 human genbank 54_36p 1 validated missense c.287 p.C96F 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors KDM5C 8242 broad.mit.edu 36 X 53239375 53239375 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 53239375 53239375 G A SNP JARID1C NM_004187 human genbank 54_36p -1 reviewed missense c.4286 p.P1429L 0.96 NULL "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1" - no_errors KDM5C 8242 broad.mit.edu 36 X 53242839 53242839 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx X 53242839 53242839 C T SNP JARID1C NM_004187 human genbank 54_36p -1 reviewed missense c.2735 p.G912E 0.58 HMMPfam_PLU-1 "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00249,HMMSmart_SM00558,HMMPfam_JmjN,HMMSmart_SM00545,HMMPfam_zf-C5HC2,superfamily_FYVE/PHD zinc finger,HMMPfam_JmjC,HMMPfam_PLU-1,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors KDM5C 8242 broad.mit.edu 36 X 53256378 53256379 + Frame_Shift_Ins INS - A - novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 53256378 53256379 - A INS JARID1C NM_004187 human genbank 54_36p -1 reviewed frame_shift_ins c.1689_1688 p.L564fs 1.000:1.000 "HMMSmart_SM00558,HMMPfam_JmjC" "HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1" - no_errors IQSEC2 23096 broad.mit.edu 36 X 53296272 53296272 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 53296272 53296272 C A SNP IQSEC2 NM_015075 human genbank 54_36p -1 validated missense c.1596 p.E532D 1 NULL "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMSmart_PH" - no_errors IQSEC2 23096 broad.mit.edu 36 X 53297034 53297034 + Silent SNP C C T novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 53297034 53297034 C T SNP IQSEC2 NM_015075 human genbank 54_36p -1 validated silent c.834 p.P278 0.97 NULL "HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMSmart_PH,superfamily_SSF50729" - no_errors SMC1A 8243 broad.mit.edu 36 X 53452728 53452728 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 53452728 53452728 G T SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.1535 p.P512H 1 "HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge" "HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge" - no_errors HUWE1 10075 broad.mit.edu 36 X 53588377 53588377 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 53588377 53588377 A T SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.11120 p.L3707Q 1 NULL "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors HUWE1 10075 broad.mit.edu 36 X 53596376 53596376 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 53596376 53596376 C T SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.8698 p.V2900M 0.41 NULL "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors HUWE1 10075 broad.mit.edu 36 X 53608260 53608260 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 53608260 53608260 C A SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.7029 p.Q2343H 1 superfamily_ARM repeat "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors HUWE1 10075 broad.mit.edu 36 X 53612533 53612533 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 53612533 53612533 C T SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.6551 p.S2184N 1 superfamily_ARM repeat "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors HUWE1 10075 broad.mit.edu 36 X 53624524 53624524 + Nonsense_Mutation SNP G G C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 53624524 53624524 G C SNP HUWE1 NM_031407 human genbank 54_36p -1 validated nonsense c.5708 p.S1903* 1 superfamily_ARM repeat "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors HUWE1 10075 broad.mit.edu 36 X 53628780 53628780 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 53628780 53628780 A T SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.4918 p.S1640T 1 "HMMPfam_WWE,superfamily_ARM repeat" "HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat" - no_errors PHF8 23133 broad.mit.edu 36 X 54028157 54028157 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54028157 54028157 C G SNP PHF8 NM_015107 human genbank 54_36p -1 validated missense c.2358 p.W786C 1 NULL "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_EGF_2,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors PHF8 23133 broad.mit.edu 36 X 54031101 54031101 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 54031101 54031101 T C SNP PHF8 NM_015107 human genbank 54_36p -1 validated missense c.1732 p.T578A 0.55 NULL "HMMSmart_SM00249,HMMSmart_SM00558,superfamily_FYVE/PHD zinc finger,PatternScan_EGF_2,HMMPfam_JmjC,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Clavaminate synthase-like" - no_errors PHF8 23133 broad.mit.edu 36 X 54037048 54037048 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54037048 54037048 T C SNP PHF8 NM_015107 human genbank 54_36p -1 validated missense c.1337 p.Q446R 1 NULL "HMMSmart_SM00249,HMMSmart_SM00558,superfamily_FYVE/PHD zinc finger,PatternScan_EGF_2,HMMPfam_JmjC,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Clavaminate synthase-like" - no_errors PHF8 23133 broad.mit.edu 36 X 54043030 54043030 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54043030 54043030 C T SNP PHF8 NM_015107 human genbank 54_36p -1 validated missense c.1231 p.E411K 1 NULL "HMMSmart_SM00249,HMMSmart_SM00558,superfamily_FYVE/PHD zinc finger,PatternScan_EGF_2,HMMPfam_JmjC,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Clavaminate synthase-like" - no_errors FAM120C 54954 broad.mit.edu 36 X 54123438 54123438 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54123438 54123438 T A SNP FAM120C NM_017848 human genbank 54_36p -1 validated missense c.2988 p.K996N 1 NULL NULL - no_errors WNK3 65267 broad.mit.edu 36 X 54276084 54276084 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54276084 54276084 G A SNP WNK3 NM_020922 human genbank 54_36p -1 validated nonsense c.4723 p.Q1575* 0.61 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors WNK3 65267 broad.mit.edu 36 X 54292143 54292143 + Silent SNP G G T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 54292143 54292143 G T SNP WNK3 NM_020922 human genbank 54_36p -1 validated silent c.3363 p.L1121 0.96 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors WNK3 65267 broad.mit.edu 36 X 54337938 54337938 + Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 54337938 54337938 G A SNP WNK3 NM_020922 human genbank 54_36p -1 validated missense c.1466 p.T489M 0.09 superfamily_Kinase_like "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors FGD1 2245 broad.mit.edu 36 X 54490597 54490597 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54490597 54490597 C A SNP FGD1 NM_004463 human genbank 54_36p -1 reviewed missense c.2452 p.A818S 1 superfamily_SSF50729 "PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE" - no_errors FGD1 2245 broad.mit.edu 36 X 54498936 54498936 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54498936 54498936 C T SNP FGD1 NM_004463 human genbank 54_36p -1 reviewed missense c.1849 p.D617N 1 "HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729" "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_FYVE,HMMSmart_FYVE,PatternScan_DH_1,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,superfamily_SSF50729" - no_errors ITIH5L 347365 broad.mit.edu 36 X 54801851 54801851 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54801851 54801851 G T SNP ITIH5L NM_198510 human genbank 54_36p -1 provisional missense c.1381 p.Q461K 1 "superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" "HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_ITI_HC_C" - no_errors MAGED2 10916 broad.mit.edu 36 X 54853268 54853268 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54853268 54853268 C T SNP MAGED2 NM_014599 human genbank 54_36p 1 reviewed missense c.434 p.P145L 0.22 NULL HMMPfam_MAGE - no_errors TRO 7216 broad.mit.edu 36 X 54966658 54966658 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 54966658 54966658 C G SNP TRO NM_001039705 human genbank 54_36p 1 reviewed missense c.968 p.T323S 0.03 NULL HMMPfam_MAGE - no_errors TRO 7216 broad.mit.edu 36 X 54966870 54966870 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 54966870 54966870 C A SNP TRO NM_001039705 human genbank 54_36p 1 reviewed missense c.1180 p.L394M 0.99 NULL HMMPfam_MAGE - no_errors ALAS2 212 broad.mit.edu 36 X 55058878 55058878 + Silent SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 55058878 55058878 C T SNP ALAS2 NM_000032 human genbank 54_36p -1 reviewed silent c.1026 p.E342 1 "superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2" "HMMPfam_Preseq_ALAS,superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_2" - no_errors USP51 158880 broad.mit.edu 36 X 55531044 55531044 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 55531044 55531044 T C SNP USP51 NM_201286 human genbank 54_36p -1 validated missense c.1054 p.R352G 1 NULL "HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors KLF8 11279 broad.mit.edu 36 X 56308437 56308437 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 56308437 56308437 G A SNP KLF8 NM_007250 human genbank 54_36p 1 provisional missense c.181 p.A61T 0.95 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors UBQLN2 29978 broad.mit.edu 36 X 56607115 56607115 + Silent SNP T T G novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 56607115 56607115 T G SNP UBQLN2 NM_013444 human genbank 54_36p 1 reviewed silent c.84 p.A28 0.46 superfamily_Ubiquitin-like "superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,HMMSmart_SM00727,superfamily_ARM repeat,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165" - no_errors SPIN2A 54466 broad.mit.edu 36 X 57179003 57179003 + Silent SNP G G A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 57179003 57179003 G A SNP SPIN2A NM_019003 human genbank 54_36p -1 validated silent c.753 p.V251 1 HMMPfam_Spin-Ssty HMMPfam_Spin-Ssty - no_errors FAAH2 158584 broad.mit.edu 36 X 57335740 57335740 + Splice_Site SNP T T G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 57335740 57335740 T G SNP FAAH2 NM_174912 human genbank 54_36p 1 validated splice_site c.275+2 e2+2 0.98 - - - no_errors FAAH2 158584 broad.mit.edu 36 X 57374785 57374785 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 57374785 57374785 C T SNP FAAH2 NM_174912 human genbank 54_36p 1 validated missense c.442 p.R148C 1 "superfamily_Amidase signature (AS) enzymes,HMMPfam_Amidase" "superfamily_Amidase signature (AS) enzymes,HMMPfam_Amidase,PatternScan_AMIDASES" - no_errors FAAH2 158584 broad.mit.edu 36 X 57490193 57490193 + Silent SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 57490193 57490193 C G SNP FAAH2 NM_174912 human genbank 54_36p 1 validated silent c.1224 p.S408 0.99 "HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes" "HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes,PatternScan_AMIDASES" - no_errors ZXDB 158586 broad.mit.edu 36 X 57636368 57636368 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 57636368 57636368 G A SNP ZXDB NM_007157 human genbank 54_36p 1 validated missense c.1162 p.E388K 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZXDB 158586 broad.mit.edu 36 X 57636999 57636999 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 57636999 57636999 G C SNP ZXDB NM_007157 human genbank 54_36p 1 validated missense c.1793 p.R598T 0.63 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ZXDA 7789 broad.mit.edu 36 X 57952406 57952406 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 57952406 57952406 C T SNP ZXDA NM_007156 human genbank 54_36p -1 validated missense c.1174 p.A392T 1 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors ZXDA 7789 broad.mit.edu 36 X 57952621 57952621 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 57952621 57952621 T G SNP ZXDA NM_007156 human genbank 54_36p -1 validated missense c.959 p.H320P 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors SPIN4 139886 broad.mit.edu 36 X 62487129 62487129 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 62487129 62487129 C A SNP SPIN4 NM_001012968 human genbank 54_36p -1 validated nonsense c.295 p.E99* 1 NULL HMMPfam_Spin-Ssty - no_errors ARHGEF9 23229 broad.mit.edu 36 X 62815099 62815099 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 62815099 62815099 C T SNP ARHGEF9 NM_015185 human genbank 54_36p -1 validated missense c.640 p.D214N 1 "superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF" "PatternScan_DH_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors ARHGEF9 23229 broad.mit.edu 36 X 62833729 62833729 + Splice_Site SNP C C T novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 62833729 62833729 C T SNP ARHGEF9 NM_015185 human genbank 54_36p -1 validated splice_site c.561+1 e4+1 1 - - - no_errors FAM123B 139285 broad.mit.edu 36 X 63326799 63326799 + Silent SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 63326799 63326799 G C SNP FAM123B NM_152424 human genbank 54_36p -1 validated silent c.3093 p.G1031 0.95 NULL HMMPfam_WTX - no_errors FAM123B 139285 broad.mit.edu 36 X 63326941 63326941 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 63326941 63326941 G C SNP FAM123B NM_152424 human genbank 54_36p -1 validated missense c.2951 p.S984C 0.01 NULL HMMPfam_WTX - no_errors FAM123B 139285 broad.mit.edu 36 X 63328322 63328322 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 63328322 63328322 A T SNP FAM123B NM_152424 human genbank 54_36p -1 validated missense c.1570 p.C524S 0.94 HMMPfam_WTX HMMPfam_WTX - no_errors MTMR8 55613 broad.mit.edu 36 X 63491423 63491423 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 63491423 63491423 T A SNP MTMR8 NM_017677 human genbank 54_36p -1 provisional missense c.427 p.N143Y 0.04 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors LAS1L 81887 broad.mit.edu 36 X 64654852 64654852 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 64654852 64654852 T C SNP LAS1L NM_031206 human genbank 54_36p -1 provisional missense c.1667 p.E556G 0.23 NULL HMMPfam_Las1 - no_errors LAS1L 81887 broad.mit.edu 36 X 64660209 64660209 + Silent SNP G G A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 64660209 64660209 G A SNP LAS1L NM_031206 human genbank 54_36p -1 provisional silent c.1404 p.S468 1 NULL HMMPfam_Las1 - no_errors LAS1L 81887 broad.mit.edu 36 X 64666232 64666232 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 64666232 64666232 A C SNP LAS1L NM_031206 human genbank 54_36p -1 provisional missense c.766 p.C256G 0 NULL HMMPfam_Las1 - no_errors MSN 4478 broad.mit.edu 36 X 64875673 64875678 + In_Frame_Del DEL GGCAGA - GGCAGA novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 GGCAGA GGCAGA - - GGCAGA GGCAGA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 64875673 64875678 GGCAGA - DEL MSN NM_002444 human genbank 54_36p 1 reviewed in_frame_del c.1461_1466 p.EA489in_frame_del 0.992:1.000:1.000:1.000:1.000:1.000 "HMMPfam_ERM,superfamily_Moesin" "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin" "(deletion:cds_exon[64875557,64875781])" no_errors VSIG4 11326 broad.mit.edu 36 X 65170331 65170331 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 65170331 65170331 C T SNP VSIG4 NM_007268 human genbank 54_36p -1 validated missense c.122 p.C41Y 0.87 "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00408,HMMPfam_ig" - no_errors HEPH 9843 broad.mit.edu 36 X 65307207 65307207 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 65307207 65307207 G T SNP HEPH NM_138737 human genbank 54_36p 1 provisional missense c.70 p.A24S 0.9 superfamily_Cupredoxins "superfamily_Cupredoxins,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2" - no_errors HEPH 9843 broad.mit.edu 36 X 65340096 65340096 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 65340096 65340096 C A SNP HEPH NM_014799 human genbank 54_36p 1 reviewed missense c.1442 p.P481H 0.96 superfamily_Cupredoxin "superfamily_Cupredoxin,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2" - no_errors OPHN1 4983 broad.mit.edu 36 X 67371131 67371131 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 67371131 67371131 C G SNP OPHN1 NM_002547 human genbank 54_36p -1 reviewed missense c.409 p.D137H 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP" - no_errors OPHN1 4983 broad.mit.edu 36 X 67419675 67419675 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 67419675 67419675 A G SNP OPHN1 NM_002547 human genbank 54_36p -1 reviewed missense c.260 p.F87S 1 NULL "HMMPfam_RhoGAP,HMMSmart_RhoGAP,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,superfamily_SSF50729" - no_errors STARD8 9754 broad.mit.edu 36 X 67854095 67854095 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx X 67854095 67854095 G A SNP STARD8 NM_014725 human genbank 54_36p 1 validated missense c.374 p.R125H 0.01 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors STARD8 9754 broad.mit.edu 36 X 67855089 67855089 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 67855089 67855089 C A SNP STARD8 NM_014725 human genbank 54_36p 1 validated missense c.1368 p.N456K 0.98 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,superfamily_Bet v1-like" - no_errors EFNB1 1947 broad.mit.edu 36 X 67976977 67976977 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 67976977 67976977 C T SNP EFNB1 NM_004429 human genbank 54_36p 1 reviewed missense c.796 p.R266C 1 NULL "HMMPfam_Ephrin,superfamily_Cupredoxin,PatternScan_EPHRIN" - no_errors PJA1 64219 broad.mit.edu 36 X 68297918 68297918 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 68297918 68297918 C A SNP PJA1 NM_145119 human genbank 54_36p -1 validated missense c.1889 p.G630V 0.99 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors AWAT2 158835 broad.mit.edu 36 X 69178893 69178893 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 69178893 69178893 C A SNP AWAT2 NM_001002254 human genbank 54_36p -1 validated missense c.716 p.G239V 0.9 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors AWAT1 158833 broad.mit.edu 36 X 69376745 69376745 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 69376745 69376745 G T SNP AWAT1 NM_001013579 human genbank 54_36p 1 provisional missense c.867 p.K289N 0.52 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors KIF4A 24137 broad.mit.edu 36 X 69480457 69480457 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 69480457 69480457 A C SNP KIF4A NM_012310 human genbank 54_36p 1 validated missense c.1331 p.K444T 1 NULL "HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors KIF4A 24137 broad.mit.edu 36 X 69543574 69543574 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 69543574 69543574 G A SNP KIF4A NM_012310 human genbank 54_36p 1 validated missense c.3179 p.G1060D 0.31 NULL "HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors GDPD2 54857 broad.mit.edu 36 X 69563254 69563254 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 69563254 69563254 C T SNP GDPD2 NM_017711 human genbank 54_36p 1 provisional missense c.494 p.A165V 0.99 NULL "superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD" - no_errors GDPD2 54857 broad.mit.edu 36 X 69563727 69563727 + Missense_Mutation SNP A A C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 69563727 69563727 A C SNP GDPD2 NM_017711 human genbank 54_36p 1 provisional missense c.718 p.T240P 1 "HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl" "HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl" - no_errors TEX11 56159 broad.mit.edu 36 X 69743565 69743565 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 69743565 69743565 A G SNP TEX11 NM_001003811 human genbank 54_36p -1 reviewed missense c.1964 p.M655T 0.05 NULL "superfamily_TPR-like,HMMPfam_SPO22,HMMSmart_SM00028" - no_errors MED12 9968 broad.mit.edu 36 X 70273030 70273030 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 70273030 70273030 C T SNP MED12 NM_005120 human genbank 54_36p 1 validated missense c.5200 p.P1734S 1 NULL HMMPfam_Med12 - no_errors NLGN3 54413 broad.mit.edu 36 X 70306517 70306517 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 70306517 70306517 C T SNP NLGN3 NM_018977 human genbank 54_36p 1 validated missense c.2332 p.R778C 1 NULL "HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2" - no_errors ZMYM3 9203 broad.mit.edu 36 X 70382597 70382597 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70382597 70382597 G T SNP ZMYM3 NM_005096 human genbank 54_36p -1 validated nonsense c.2649 p.C883* 1 NULL "HMMPfam_zf-FCS,HMMSmart_SM00746" - no_errors NONO 4841 broad.mit.edu 36 X 70428478 70428478 + Silent SNP A A C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70428478 70428478 A C SNP NONO NM_007363 human genbank 54_36p 1 reviewed silent c.279 p.L93 0.96 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_NOPS" - no_errors NONO 4841 broad.mit.edu 36 X 70431090 70431090 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70431090 70431090 T C SNP NONO NM_007363 human genbank 54_36p 1 reviewed missense c.637 p.F213L 0.99 "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" "HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_NOPS,superfamily_RNA-binding domain RBD" - no_errors ITGB1BP2 26548 broad.mit.edu 36 X 70439016 70439016 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70439016 70439016 A G SNP ITGB1BP2 NM_012278 human genbank 54_36p 1 provisional missense c.202 p.K68E 1 NULL "HMMPfam_CHORD,superfamily_HSP20_chap,HMMPfam_CS" - no_errors TAF1 6872 broad.mit.edu 36 X 70514835 70514835 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 70514835 70514835 C G SNP TAF1 NM_004606 human genbank 54_36p 1 reviewed missense c.1019 p.S340C 1 NULL "HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors OGT 8473 broad.mit.edu 36 X 70693810 70693810 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70693810 70693810 C A SNP OGT NM_181672 human genbank 54_36p 1 reviewed missense c.1361 p.T454K 1 "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028" "superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1" - no_errors ACRC 93953 broad.mit.edu 36 X 70740618 70740618 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70740618 70740618 G A SNP ACRC NM_052957 human genbank 54_36p 1 validated missense c.766 p.D256N 0.01 NULL "HMMPfam_SprT-like,HMMSmart_SM00731" - no_errors ACRC 93953 broad.mit.edu 36 X 70740639 70740639 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 70740639 70740639 G C SNP ACRC NM_052957 human genbank 54_36p 1 validated missense c.787 p.E263Q 0 NULL "HMMSmart_SM00731,HMMPfam_SprT-like" - no_errors ACRC 93953 broad.mit.edu 36 X 70741065 70741065 + Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70741065 70741065 C G SNP ACRC NM_052957 human genbank 54_36p 1 validated missense c.1213 p.P405A 0.02 NULL "HMMSmart_SM00731,HMMPfam_SprT-like" - no_errors ACRC 93953 broad.mit.edu 36 X 70745675 70745675 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70745675 70745675 T A SNP ACRC NM_052957 human genbank 54_36p 1 validated missense c.1594 p.S532T 0.31 "HMMSmart_SM00731,HMMPfam_SprT-like" "HMMSmart_SM00731,HMMPfam_SprT-like" - no_errors CXCR3 2833 broad.mit.edu 36 X 70753547 70753547 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 70753547 70753547 C T SNP CXCR3 NM_001504 human genbank 54_36p -1 reviewed missense c.500 p.R167H 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RGAG4 340526 broad.mit.edu 36 X 71267322 71267322 + Missense_Mutation SNP A A C novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 71267322 71267322 A C SNP RGAG4 NM_001024455 human genbank 54_36p -1 provisional missense c.794 p.L265W 1 HMMPfam_Retrotrans_gag HMMPfam_Retrotrans_gag - no_errors RGAG4 340526 broad.mit.edu 36 X 71267780 71267780 + Silent SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 71267780 71267780 G A SNP RGAG4 NM_001024455 human genbank 54_36p -1 provisional silent c.336 p.S112 0 NULL HMMPfam_Retrotrans_gag - no_errors PHKA1 5255 broad.mit.edu 36 X 71772949 71772949 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 71772949 71772949 C G SNP PHKA1 NM_002637 human genbank 54_36p -1 validated missense c.1472 p.R491T 1 HMMPfam_PHK_AB "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" - no_errors PHKA1 5255 broad.mit.edu 36 X 71781000 71781000 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 71781000 71781000 C A SNP PHKA1 NM_002637 human genbank 54_36p -1 validated missense c.1396 p.A466S 1 HMMPfam_PHK_AB "HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases" - no_errors SLC16A2 6567 broad.mit.edu 36 X 73668015 73668015 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 73668015 73668015 G A SNP SLC16A2 NM_006517 human genbank 54_36p 1 reviewed missense c.1744 p.E582K 1 superfamily_MFS_gen_substrate_transporter "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors RLIM 51132 broad.mit.edu 36 X 73728373 73728373 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 73728373 73728373 G A SNP RLIM NM_016120 human genbank 54_36p -1 reviewed missense c.1502 p.S501L 0.85 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RLIM 51132 broad.mit.edu 36 X 73729525 73729525 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 73729525 73729525 C A SNP RLIM NM_016120 human genbank 54_36p -1 reviewed missense c.350 p.R117I 1 NULL "HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors KIAA2022 340533 broad.mit.edu 36 X 73877060 73877060 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 73877060 73877060 T C SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated missense c.4057 p.I1353V 1 NULL NULL - no_errors KIAA2022 340533 broad.mit.edu 36 X 73877895 73877895 + Silent SNP C C T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 73877895 73877895 C T SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated silent c.3222 p.P1074 0.91 NULL NULL - no_errors ABCB7 22 broad.mit.edu 36 X 74211977 74211977 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 74211977 74211977 A G SNP ABCB7 NM_004299 human genbank 54_36p -1 reviewed missense c.803 p.L268S 1 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane" "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCB7 22 broad.mit.edu 36 X 74292690 74292690 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 74292690 74292690 G A SNP ABCB7 NM_004299 human genbank 54_36p -1 reviewed missense c.143 p.A48V 0 NULL "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors ZDHHC15 158866 broad.mit.edu 36 X 74566512 74566512 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 74566512 74566512 G A SNP ZDHHC15 NM_144969 human genbank 54_36p -1 provisional missense c.478 p.P160S 1 HMMPfam_zf-DHHC HMMPfam_zf-DHHC - no_errors ZDHHC15 158866 broad.mit.edu 36 X 74659467 74659467 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 74659467 74659467 C T SNP ZDHHC15 NM_144969 human genbank 54_36p -1 provisional missense c.118 p.V40I 1 NULL HMMPfam_zf-DHHC - no_errors CXorf26 51260 broad.mit.edu 36 X 75311718 75311718 + Silent SNP A A T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 75311718 75311718 A T SNP CXorf26 NM_016500 human genbank 54_36p 1 predicted silent c.165 p.S55 1 HMMPfam_DUF757 HMMPfam_DUF757 - no_errors PGK1 5230 broad.mit.edu 36 X 77255900 77255900 + Missense_Mutation SNP T T G novel Unknown TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 77255900 77255900 T G SNP PGK1 NM_000291 human genbank 54_36p 1 reviewed missense c.120 p.I40M 1 "HMMPfam_PGK,superfamily_Phosphoglycerate kinase" "HMMPfam_PGK,superfamily_Phosphoglycerate kinase,PatternScan_PGLYCERATE_KINASE" - no_errors CYSLTR1 10800 broad.mit.edu 36 X 77415025 77415025 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 77415025 77415025 G C SNP CYSLTR1 NM_006639 human genbank 54_36p -1 reviewed missense c.875 p.P292R 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors ZCCHC5 203430 broad.mit.edu 36 X 77799795 77799795 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 77799795 77799795 C G SNP ZCCHC5 NM_152694 human genbank 54_36p -1 provisional missense c.779 p.S260T 0.17 NULL "HMMPfam_zf-CCHC,HMMSmart_ZnF_C2HC" - no_errors LPAR4 2846 broad.mit.edu 36 X 77897514 77897514 + Silent SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 77897514 77897514 C A SNP LPAR4 NM_005296 human genbank 54_36p 1 reviewed silent c.492 p.I164 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors P2RY10 27334 broad.mit.edu 36 X 78102820 78102820 + Silent SNP T T A novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 78102820 78102820 T A SNP P2RY10 NM_014499 human genbank 54_36p 1 reviewed silent c.147 p.L49 0.86 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors TBX22 50945 broad.mit.edu 36 X 79167900 79167900 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 79167900 79167900 C A SNP TBX22 NM_001109878 human genbank 54_36p 1 reviewed missense c.601 p.L201I 1 "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box" "superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors BRWD3 254065 broad.mit.edu 36 X 79832149 79832149 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 79832149 79832149 A C SNP BRWD3 NM_153252 human genbank 54_36p -1 validated missense c.3701 p.V1234G 1 "superfamily_Bromodomain,HMMSmart_SM00297" "HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" - no_errors BRWD3 254065 broad.mit.edu 36 X 79876317 79876330 + Frame_Shift_Del DEL CCAAATAATATATT - CCAAATAATATATT novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W CCAAATAATATATT CCAAATAATATATT - - CCAAATAATATATT CCAAATAATATATT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 79876317 79876330 CCAAATAATATATT - DEL BRWD3 NM_153252 human genbank 54_36p -1 validated frame_shift_del c.1042_1029 p.I344fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999 "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320" "HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain" "(deletion:cds_exon[79876273,79876373])" no_errors POU3F4 5456 broad.mit.edu 36 X 82650625 82650625 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 82650625 82650625 G T SNP POU3F4 NM_000307 human genbank 54_36p 1 reviewed missense c.637 p.A213S 1 "HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_1" "HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HDX 139324 broad.mit.edu 36 X 83610663 83610663 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 83610663 83610663 T C SNP HDX NM_144657 human genbank 54_36p -1 provisional missense c.724 p.N242D 0.13 NULL "HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox" - no_errors POF1B 79983 broad.mit.edu 36 X 84457380 84457380 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 84457380 84457380 A C SNP POF1B NM_024921 human genbank 54_36p -1 validated missense c.871 p.S291A 1 NULL NULL - no_errors CHM 1121 broad.mit.edu 36 X 85123432 85123432 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 85123432 85123432 A T SNP CHM NM_000390 human genbank 54_36p -1 reviewed missense c.154 p.F52I 1 "superfamily_SSF51905,HMMPfam_GDI" "superfamily_SSF51905,HMMPfam_GDI,superfamily_SSF54373" - no_errors DACH2 117154 broad.mit.edu 36 X 85836795 85836795 + Silent SNP T T A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 85836795 85836795 T A SNP DACH2 NM_053281 human genbank 54_36p 1 reviewed silent c.888 p.A296 0.98 NULL "HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain" - no_errors DACH2 117154 broad.mit.edu 36 X 85881416 85881416 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 85881416 85881416 C A SNP DACH2 NM_053281 human genbank 54_36p 1 reviewed missense c.1115 p.P372Q 1 NULL "HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain" - no_errors DACH2 117154 broad.mit.edu 36 X 85956386 85956386 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 85956386 85956386 A T SNP DACH2 NM_053281 human genbank 54_36p 1 reviewed missense c.1577 p.K526M 1 NULL "HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain" - no_errors KLHL4 56062 broad.mit.edu 36 X 86775431 86775431 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 86775431 86775431 T A SNP KLHL4 NM_057162 human genbank 54_36p 1 reviewed missense c.1576 p.Y526N 1 "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors CPXCR1 53336 broad.mit.edu 36 X 87895468 87895468 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 87895468 87895468 C T SNP CPXCR1 NM_033048 human genbank 54_36p 1 validated nonsense c.397 p.R133* 0 NULL HMMSmart_ZnF_C2H2 - no_errors DIAPH2 1730 broad.mit.edu 36 X 96214634 96214634 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 96214634 96214634 G T SNP DIAPH2 NM_006729 human genbank 54_36p 1 reviewed missense c.2089 p.G697W 0 "superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,HMMPfam_Drf_DAD" - no_errors DIAPH2 1730 broad.mit.edu 36 X 96389487 96389487 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 96389487 96389487 A T SNP DIAPH2 NM_006729 human genbank 54_36p 1 reviewed missense c.2837 p.K946M 1 "HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" "HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" - no_errors SYTL4 94121 broad.mit.edu 36 X 99827665 99827665 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 99827665 99827665 T A SNP SYTL4 NM_080737 human genbank 54_36p -1 validated missense c.1427 p.H476L 1 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239" "HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors NOX1 27035 broad.mit.edu 36 X 100003844 100003844 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 100003844 100003844 C A SNP NOX1 NM_007052 human genbank 54_36p -1 reviewed missense c.776 p.R259L 0.02 NULL "HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_6" - no_errors NOX1 27035 broad.mit.edu 36 X 100004415 100004415 + Silent SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 100004415 100004415 G T SNP NOX1 NM_007052 human genbank 54_36p -1 reviewed silent c.388 p.R130 0.05 HMMPfam_Ferric_reduct "HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain" - no_errors XKRX 402415 broad.mit.edu 36 X 100056313 100056313 + Silent SNP G G T rs61740851 Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 100056313 100056313 G T SNP XKRX NM_212559 human genbank 54_36p -1 provisional silent c.1059 p.V353 0.98 NULL NULL - no_errors ARL13A 392509 broad.mit.edu 36 X 100127452 100127452 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 100127452 100127452 G T SNP ARL13A NM_001012990 human genbank 54_36p 1 validated missense c.271 p.G91W 1 "superfamily_SSF52540,HMMPfam_Arf" "superfamily_SSF52540,HMMPfam_Arf" - no_errors ARL13A 392509 broad.mit.edu 36 X 100129873 100129873 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 100129873 100129873 G C SNP ARL13A NM_001012990 human genbank 54_36p 1 validated missense c.689 p.R230T 0.83 NULL "HMMPfam_Arf,superfamily_SSF52540" - no_errors DRP2 1821 broad.mit.edu 36 X 100377632 100377674 + Splice_Site DEL GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA - GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 100377632 100377674 GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA - DEL DRP2 NM_001939 human genbank 54_36p 1 validated splice_site_del c.245_281 p.C82fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.984:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000 NULL "HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1" "(deletion:cds_exon[100377505,100377668], intron[100377669,100379263])" no_errors DRP2 1821 broad.mit.edu 36 X 100380655 100380655 + Silent SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 100380655 100380655 C T SNP DRP2 NM_001939 human genbank 54_36p 1 validated silent c.468 p.G156 1 "HMMSmart_SPEC,superfamily_Spectrin" "HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1" - no_errors ARMCX1 51309 broad.mit.edu 36 X 100694665 100694665 + Silent SNP C C T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 100694665 100694665 C T SNP ARMCX1 NM_016608 human genbank 54_36p 1 reviewed silent c.96 p.D32 0.84 NULL "superfamily_ARM-type_fold,HMMPfam_DUF634" - no_errors ARMCX1 51309 broad.mit.edu 36 X 100694882 100694882 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx X 100694882 100694882 G C SNP ARMCX1 NM_016608 human genbank 54_36p 1 reviewed missense c.313 p.E105Q 1 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ARMCX1 51309 broad.mit.edu 36 X 100695400 100695400 + Silent SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 100695400 100695400 C T SNP ARMCX1 NM_016608 human genbank 54_36p 1 reviewed silent c.831 p.N277 0.99 "HMMPfam_DUF634,superfamily_ARM-type_fold" "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ARMCX3 51566 broad.mit.edu 36 X 100766912 100766912 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 100766912 100766912 C G SNP ARMCX3 NM_016607 human genbank 54_36p 1 reviewed missense c.287 p.A96G 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,HMMPfam_DUF634" - no_errors ARMCX3 51566 broad.mit.edu 36 X 100767422 100767422 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 100767422 100767422 T A SNP ARMCX3 NM_016607 human genbank 54_36p 1 reviewed missense c.797 p.L266H 1 "HMMPfam_DUF634,superfamily_ARM-type_fold" "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ARMCX2 9823 broad.mit.edu 36 X 100798243 100798243 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 100798243 100798243 C T SNP ARMCX2 NM_014782 human genbank 54_36p -1 reviewed missense c.988 p.A330T 1 NULL "superfamily_ARM-type_fold,HMMPfam_DUF634" - no_errors ARMCX2 9823 broad.mit.edu 36 X 100798262 100798284 + Frame_Shift_Del DEL GGCTGCAGCAGCTGCTGCAGCCC - GGCTGCAGCAGCTGCTGCAGCCC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D GGCTGCAGCAGCTGCTGCAGCCC GGCTGCAGCAGCTGCTGCAGCCC - - GGCTGCAGCAGCTGCTGCAGCCC GGCTGCAGCAGCTGCTGCAGCCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 100798262 100798284 GGCTGCAGCAGCTGCTGCAGCCC - DEL ARMCX2 NM_014782 human genbank 54_36p -1 reviewed frame_shift_del c.969_947 p.G316fs 0.994:0.998:0.998:0.997:0.998:0.999:0.998:1.000:0.999:0.990:0.996:0.996:0.966:0.978:0.982:0.984:0.995:0.994:0.953:0.963:0.964:0.962:0.994 NULL "superfamily_ARM-type_fold,HMMPfam_DUF634" "(deletion:cds_exon[100797332,100799230])" no_errors ARMCX2 9823 broad.mit.edu 36 X 100798316 100798316 + Silent SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 100798316 100798316 G A SNP ARMCX2 NM_014782 human genbank 54_36p -1 reviewed silent c.915 p.D305 0.87 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ARMCX2 9823 broad.mit.edu 36 X 100798796 100798796 + Silent SNP C C T novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 100798796 100798796 C T SNP ARMCX2 NM_014782 human genbank 54_36p -1 reviewed silent c.435 p.V145 0 NULL "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ZMAT1 84460 broad.mit.edu 36 X 101025268 101025268 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx X 101025268 101025268 C T SNP ZMAT1 NM_001011657 human genbank 54_36p -1 validated missense c.1787 p.R596Q 0.99 NULL "HMMSmart_SM00451,HMMPfam_zf-U1,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZMAT1 84460 broad.mit.edu 36 X 101039517 101039517 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 101039517 101039517 G A SNP ZMAT1 NM_001011657 human genbank 54_36p -1 validated missense c.485 p.S162L 0.09 NULL "HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-U1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors TCEAL2 140597 broad.mit.edu 36 X 101268629 101268629 + Silent SNP G G A novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 101268629 101268629 G A SNP TCEAL2 NM_080390 human genbank 54_36p 1 reviewed silent c.171 p.P57 0 HMMPfam_TFA HMMPfam_TFA - no_errors TCEAL6 158931 broad.mit.edu 36 X 101282848 101282848 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 101282848 101282848 C T SNP TCEAL6 NM_001006938 human genbank 54_36p -1 validated missense c.112 p.A38T 0 HMMPfam_TFA HMMPfam_TFA - no_errors NXF2B 728343 broad.mit.edu 36 X 101502189 101502189 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 101502189 101502189 G T SNP NXF2B NM_001099686 human genbank 54_36p -1 inferred missense c.1870 p.Q624K 0.81 "superfamily_UBA_like,HMMSmart_TAP_C" "superfamily_SSF54928,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,HMMPfam_NTF2,superfamily_UBA_like,HMMSmart_TAP_C,HMMPfam_TAP_C" - no_errors RAB40AL 282808 broad.mit.edu 36 X 102079466 102079466 + Silent SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 102079466 102079466 G A SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional silent c.564 p.K188 1 HMMSmart_SOCS "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras,HMMSmart_SOCS,HMMPfam_SOCS_box" - no_errors BEX1 55859 broad.mit.edu 36 X 102204510 102204510 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 102204510 102204510 G C SNP BEX1 NM_018476 human genbank 54_36p -1 validated missense c.349 p.H117D 1 HMMPfam_BEX HMMPfam_BEX - no_errors BEX4 56271 broad.mit.edu 36 X 102357839 102357839 + Silent SNP A A G novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 102357839 102357839 A G SNP BEX4 NM_001080425 human genbank 54_36p 1 validated silent c.102 p.E34 0.04 HMMPfam_BEX HMMPfam_BEX - no_errors BEX2 84707 broad.mit.edu 36 X 102451537 102451537 + Silent SNP C C T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx X 102451537 102451537 C T SNP BEX2 NM_032621 human genbank 54_36p -1 validated silent c.24 p.A8 0 NULL HMMPfam_BEX - no_errors TCEAL3 85012 broad.mit.edu 36 X 102750764 102750764 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 102750764 102750764 A T SNP TCEAL3 NM_001006933 human genbank 54_36p 1 reviewed missense c.116 p.E39V 0 HMMPfam_TFA HMMPfam_TFA - no_errors TCEAL1 9338 broad.mit.edu 36 X 102771617 102771617 + Silent SNP G G A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 102771617 102771617 G A SNP TCEAL1 NM_001006639 human genbank 54_36p 1 reviewed silent c.117 p.S39 0.96 HMMPfam_TFA HMMPfam_TFA - no_errors PLP1 5354 broad.mit.edu 36 X 102928267 102928267 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 102928267 102928267 C T SNP PLP1 NM_000533 human genbank 54_36p 1 reviewed missense c.409 p.R137W 1 HMMPfam_Myelin_PLP "HMMPfam_Myelin_PLP,PatternScan_MYELIN_PLP_1,HMMSmart_SM00002,PatternScan_MYELIN_PLP_2" - no_errors H2BFWT 158983 broad.mit.edu 36 X 103154861 103154861 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 103154861 103154861 G T SNP H2BFWT NM_001002916 human genbank 54_36p -1 provisional missense c.28 p.P10T 0 NULL "PatternScan_HISTONE_H2B,superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone" - no_errors FAM199X 139231 broad.mit.edu 36 X 103321041 103321041 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 103321041 103321041 T C SNP CXorf39 NM_207318 human genbank 54_36p 1 validated missense c.1093 p.F365L 1 NULL NULL - no_errors ESX1 80712 broad.mit.edu 36 X 103381695 103381695 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 103381695 103381695 G A SNP ESX1 NM_153448 human genbank 54_36p -1 validated missense c.1091 p.A364V 0 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors IL1RAPL2 26280 broad.mit.edu 36 X 104327040 104327040 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 104327040 104327040 C A SNP IL1RAPL2 NM_017416 human genbank 54_36p 1 reviewed missense c.310 p.H104N 1 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR" - no_errors TEX13A 56157 broad.mit.edu 36 X 104350948 104350948 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 104350948 104350948 C G SNP TEX13A ENST00000255513 human ensembl 54_36p -1 known missense c.586 p.E196Q 0 NULL "superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1" - no_errors TEX13A 56157 broad.mit.edu 36 X 104351508 104351508 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 104351508 104351508 C T SNP TEX13A ENST00000255513 human ensembl 54_36p -1 known missense c.230 p.R77H 0.03 NULL "HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain" - no_errors NRK 203447 broad.mit.edu 36 X 105039944 105039944 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 105039944 105039944 A T SNP NRK ENST00000243300 human ensembl 54_36p 1 known missense c.1658 p.Q553L 0.27 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,HMMSmart_SM00036,HMMPfam_CNH" - no_errors SERPINA7 6906 broad.mit.edu 36 X 105167461 105167461 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 105167461 105167461 A T SNP SERPINA7 NM_000354 human genbank 54_36p -1 validated missense c.245 p.F82Y 0.67 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors TBC1D8B 54885 broad.mit.edu 36 X 106000625 106000625 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 106000625 106000625 G C SNP TBC1D8B NM_017752 human genbank 54_36p 1 validated missense c.2893 p.A965P 1 superfamily_EF-hand "HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors CLDN2 9075 broad.mit.edu 36 X 106058281 106058281 + Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 106058281 106058281 C A SNP CLDN2 NM_020384 human genbank 54_36p 1 validated missense c.167 p.T56K 1 "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors MORC4 79710 broad.mit.edu 36 X 106091944 106091944 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 106091944 106091944 T A SNP MORC4 NM_024657 human genbank 54_36p -1 validated missense c.1210 p.T404S 0.81 NULL "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_zf-CW" - no_errors MORC4 79710 broad.mit.edu 36 X 106116087 106116087 + Splice_Site SNP C C T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 106116087 106116087 C T SNP MORC4 NM_024657 human genbank 54_36p -1 validated splice_site c.309-1 e4-1 1 - - - no_errors RBM41 55285 broad.mit.edu 36 X 106199163 106199163 + Silent SNP G G A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 106199163 106199163 G A SNP RBM41 NM_018301 human genbank 54_36p -1 provisional silent c.1053 p.G351 0.98 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors MID2 11043 broad.mit.edu 36 X 106970864 106970864 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 106970864 106970864 C T SNP MID2 NM_012216 human genbank 54_36p 1 reviewed missense c.253 p.R85C 1 superfamily_RING/U-box ############################################################################################################################################################################################################################################################### - no_errors PSMD10 5716 broad.mit.edu 36 X 107214958 107214958 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 107214958 107214958 C T SNP PSMD10 NM_002814 human genbank 54_36p -1 reviewed missense c.583 p.G195R 1 "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors COL4A6 1288 broad.mit.edu 36 X 107290440 107290440 + Silent SNP C C T novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 107290440 107290440 C T SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed silent c.4437 p.V1479 1 "HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like" "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like" - no_errors COL4A6 1288 broad.mit.edu 36 X 107317861 107317861 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 107317861 107317861 G T SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed missense c.1643 p.P548Q 0.08 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A6 1288 broad.mit.edu 36 X 107440712 107440712 + Silent SNP T T A novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 107440712 107440712 T A SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed silent c.69 p.G23 1 NULL "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A5 1287 broad.mit.edu 36 X 107744884 107744885 + Missense_Mutation DNP GG GG AT novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 GG GG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 107744884 107744885 GG AT DNP COL4A5 NM_033380 human genbank 54_36p 1 reviewed missense c.2483_2484 p.G828D 1.000:0.872 HMMPfam_Collagen "HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4" - no_errors IRS4 8471 broad.mit.edu 36 X 107864039 107864039 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 107864039 107864039 C T SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2192 p.R731H 0.75 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors IRS4 8471 broad.mit.edu 36 X 107866023 107866023 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 107866023 107866023 C A SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed nonsense c.208 p.E70* 0.03 NULL "HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729" - no_errors AMMECR1 9949 broad.mit.edu 36 X 109447814 109447814 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 109447814 109447814 C A SNP AMMECR1 NM_015365 human genbank 54_36p -1 validated missense c.142 p.G48C 1 NULL HMMPfam_AMMECR1 - no_errors PAK3 5063 broad.mit.edu 36 X 110274786 110274786 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 110274786 110274786 A T SNP PAK3 ENST00000360648 human ensembl 54_36p 1 known missense c.319 p.S107C 1 HMMPfam_PBD "HMMPfam_PBD,HMMSmart_PBD,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors PAK3 5063 broad.mit.edu 36 X 110324209 110324209 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 110324209 110324209 G T SNP PAK3 NM_002578 human genbank 54_36p 1 reviewed missense c.1017 p.W339C 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMPfam_PBD,HMMSmart_SM00285,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors PAK3 5063 broad.mit.edu 36 X 110346422 110346422 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 110346422 110346422 T C SNP PAK3 NM_002578 human genbank 54_36p 1 reviewed missense c.1525 p.S509P 0.99 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMPfam_PBD,HMMSmart_SM00285,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CAPN6 827 broad.mit.edu 36 X 110378577 110378577 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 110378577 110378577 G A SNP CAPN6 NM_014289 human genbank 54_36p -1 reviewed missense c.1360 p.R454C 1 "HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2" ############################################################################################################################################################################################################################################################### - no_errors CAPN6 827 broad.mit.edu 36 X 110393712 110393712 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 110393712 110393712 C G SNP CAPN6 NM_014289 human genbank 54_36p -1 reviewed missense c.109 p.D37H 1 "HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001" ############################################################################################################################################################################################################################################################### - no_errors HTR2C 3358 broad.mit.edu 36 X 114047420 114047420 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 114047420 114047420 C T SNP HTR2C NM_000868 human genbank 54_36p 1 reviewed missense c.563 p.P188L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTR2C 3358 broad.mit.edu 36 X 114047863 114047863 + Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 114047863 114047863 C G SNP HTR2C NM_000868 human genbank 54_36p 1 reviewed missense c.1006 p.L336V 0.96 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors HTR2C 3358 broad.mit.edu 36 X 114048035 114048035 + Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 114048035 114048035 C T SNP HTR2C NM_000868 human genbank 54_36p 1 reviewed missense c.1178 p.P393L 0.01 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LRCH2 57631 broad.mit.edu 36 X 114311156 114311156 + Silent SNP T T C novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 114311156 114311156 T C SNP LRCH2 NM_020871 human genbank 54_36p -1 validated silent c.960 p.S320 0.46 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH" - no_errors SLC6A14 11254 broad.mit.edu 36 X 115496779 115496779 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 115496779 115496779 G T SNP SLC6A14 NM_007231 human genbank 54_36p 1 validated missense c.1075 p.V359L 1 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors WDR44 54521 broad.mit.edu 36 X 117411049 117411049 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 117411049 117411049 G A SNP WDR44 NM_019045 human genbank 54_36p 1 validated missense c.613 p.A205T 0 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DOCK11 139818 broad.mit.edu 36 X 117590359 117590359 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 117590359 117590359 G C SNP DOCK11 NM_144658 human genbank 54_36p 1 validated missense c.1081 p.E361Q 1 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ded_cyto" - no_errors DOCK11 139818 broad.mit.edu 36 X 117693958 117693958 + Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 117693958 117693958 G T SNP DOCK11 NM_144658 human genbank 54_36p 1 validated missense c.5231 p.G1744V 1 NULL "HMMPfam_PH,HMMSmart_PH,HMMPfam_Ded_cyto,superfamily_SSF50729" - no_errors LONRF3 79836 broad.mit.edu 36 X 117993496 117993496 + Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 117993496 117993496 G C SNP LONRF3 NM_001031855 human genbank 54_36p 1 reviewed missense c.725 p.R242P 0.98 superfamily_TPR-like "superfamily_TPR-like,HMMSmart_SM00028,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_TPR_1,HMMPfam_LON,HMMSmart_SM00464" - no_errors KIAA1210 57481 broad.mit.edu 36 X 118105348 118105348 + Silent SNP C C T novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 118105348 118105348 C T SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated silent c.3873 p.Q1291 0 NULL NULL - no_errors KIAA1210 57481 broad.mit.edu 36 X 118112043 118112043 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 118112043 118112043 T A SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated missense c.1311 p.L437F 0.01 NULL NULL - no_errors KIAA1210 57481 broad.mit.edu 36 X 118134644 118134644 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 118134644 118134644 A C SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated missense c.493 p.C165G 1 NULL NULL - no_errors NKRF 55922 broad.mit.edu 36 X 118607769 118607769 + Silent SNP G G A novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 118607769 118607769 G A SNP NKRF NM_017544 human genbank 54_36p -1 validated silent c.1647 p.I549 1 HMMSmart_SM00443 "superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00443,HMMPfam_G-patch,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H" - no_errors UPF3B 65109 broad.mit.edu 36 X 118855948 118855948 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 118855948 118855948 G A SNP UPF3B NM_080632 human genbank 54_36p -1 reviewed missense c.1102 p.R368W 0.99 NULL "HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD" - no_errors UPF3B 65109 broad.mit.edu 36 X 118859110 118859110 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 118859110 118859110 C T SNP UPF3B NM_080632 human genbank 54_36p -1 reviewed missense c.764 p.R255K 1 NULL "HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD" - no_errors NKAP 79576 broad.mit.edu 36 X 118961340 118961340 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 118961340 118961340 G A SNP NKAP NM_024528 human genbank 54_36p -1 validated missense c.257 p.A86V 0.01 NULL HMMPfam_DUF926 - no_errors RHOXF1 158800 broad.mit.edu 36 X 119133481 119133481 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 119133481 119133481 C T SNP RHOXF1 NM_139282 human genbank 54_36p -1 provisional missense c.320 p.R107H 0 "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ZBTB33 10009 broad.mit.edu 36 X 119271918 119271918 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 119271918 119271918 C A SNP ZBTB33 NM_006777 human genbank 54_36p 1 validated missense c.620 p.T207N 0.02 NULL "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZBTB33 10009 broad.mit.edu 36 X 119272073 119272073 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 119272073 119272073 A G SNP ZBTB33 NM_006777 human genbank 54_36p 1 validated missense c.775 p.S259G 1 NULL "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CT47B1 643311 broad.mit.edu 36 X 119892825 119892851 + In_Frame_Del DEL TCCTCTGTGGCCTCCTCTGTGAGCTTC - TCCTCTGTGGCCTCCTCTGTGAGCTTC novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W TCCTCTGTGGCCTCCTCTGTGAGCTTC TCCTCTGTGGCCTCCTCTGTGAGCTTC Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 119892825 119892851 TCCTCTGTGGCCTCCTCTGTGAGCTTC - DEL CT47B1 ENST00000371310 human ensembl 54_36p -1 known in_frame_del c.728_702 p.KLTEEATEE235in_frame_del 0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.001:0.003:0.003:0.001:0.001 NULL NULL "(deletion:cds_exon[119892778,119893552])" no_errors GLUD2 2747 broad.mit.edu 36 X 120010098 120010098 + Silent SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 120010098 120010098 A G SNP GLUD2 NM_012084 human genbank 54_36p 1 validated silent c.879 p.L293 1 "HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd" "superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd" - no_errors GRIA3 2892 broad.mit.edu 36 X 122360239 122360239 + Silent SNP A A G novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 122360239 122360239 A G SNP GRIA3 NM_000828 human genbank 54_36p 1 reviewed silent c.984 p.R328 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors THOC2 57187 broad.mit.edu 36 X 122587577 122587577 + Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 122587577 122587577 G C SNP THOC2 NM_001081550 human genbank 54_36p -1 validated missense c.2924 p.T975R 1 NULL NULL - no_errors STAG2 10735 broad.mit.edu 36 X 123006782 123006782 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 123006782 123006782 C T SNP STAG2 NM_001042749 human genbank 54_36p 1 validated missense c.550 p.R184W 1 "HMMPfam_STAG,superfamily_ARM-type_fold" "HMMPfam_STAG,superfamily_ARM-type_fold" - no_errors STAG2 10735 broad.mit.edu 36 X 123027771 123027771 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 123027771 123027771 A T SNP STAG2 NM_001042749 human genbank 54_36p 1 validated missense c.2162 p.E721V 1 superfamily_ARM-type_fold "HMMPfam_STAG,superfamily_ARM-type_fold" - no_errors ODZ1 10178 broad.mit.edu 36 X 123345668 123345668 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 123345668 123345668 G A SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6773 p.A2258V 1 HMMPfam_RHS_repeat "HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat" - no_errors ODZ1 10178 broad.mit.edu 36 X 123603388 123603388 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 123603388 123603388 T A SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.2011 p.T671S 0.98 NULL "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors ODZ1 10178 broad.mit.edu 36 X 123615119 123615119 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 123615119 123615119 G T SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.1364 p.T455N 1 NULL "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors ODZ1 10178 broad.mit.edu 36 X 123857637 123857637 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 123857637 123857637 C G SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.352 p.D118H 1 HMMPfam_Ten_N "HMMPfam_NHL,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_RHS_repeat,HMMPfam_Ten_N,superfamily_N2O_reductase_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196" - no_errors DCAF12L2 340578 broad.mit.edu 36 X 125126337 125126337 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx X 125126337 125126337 C A SNP WDR40C NM_001013628 human genbank 54_36p -1 provisional missense c.1252 p.V418L 1 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" - no_errors DCAF12L2 340578 broad.mit.edu 36 X 125127403 125127403 + Silent SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 125127403 125127403 C A SNP WDR40C NM_001013628 human genbank 54_36p -1 provisional silent c.186 p.A62 0.15 NULL "HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors DCAF12L1 139170 broad.mit.edu 36 X 125512955 125512955 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 125512955 125512955 C A SNP WDR40B NM_178470 human genbank 54_36p -1 reviewed nonsense c.1318 p.E440* 1 NULL "PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" - no_errors ACTRT1 139741 broad.mit.edu 36 X 127013176 127013176 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 127013176 127013176 G A SNP ACTRT1 NM_138289 human genbank 54_36p -1 provisional missense c.691 p.R231C 0.01 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "HMMPfam_Actin,superfamily_SSF53067,HMMSmart_ACTIN" - no_errors SMARCA1 6594 broad.mit.edu 36 X 128442389 128442389 + Silent SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 128442389 128442389 A G SNP SMARCA1 NM_003069 human genbank 54_36p -1 reviewed silent c.2412 p.I804 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_HAND,superfamily_HAND domain of the nucleosome remodeling ATPase ISWI" ############################################################################################################################################################################################################################################################### - no_errors SMARCA1 6594 broad.mit.edu 36 X 128473515 128473515 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 128473515 128473515 G A SNP SMARCA1 NM_003069 human genbank 54_36p -1 reviewed nonsense c.757 p.R253* 1 "HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors OCRL 4952 broad.mit.edu 36 X 128551809 128551809 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 128551809 128551809 C T SNP OCRL NM_000276 human genbank 54_36p 1 reviewed missense c.2587 p.L863F 0.99 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors SASH3 54440 broad.mit.edu 36 X 128754653 128754653 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 128754653 128754653 C T SNP SASH3 NM_018990 human genbank 54_36p 1 provisional missense c.809 p.T270I 0.86 "superfamily_SH3,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2" - no_errors UTP14A 10813 broad.mit.edu 36 X 128882166 128882166 + Nonsense_Mutation SNP G G T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 128882166 128882166 G T SNP UTP14A NM_006649 human genbank 54_36p 1 provisional nonsense c.805 p.E269* 1 HMMPfam_Utp14 HMMPfam_Utp14 - no_errors UTP14A 10813 broad.mit.edu 36 X 128891264 128891264 + Nonstop_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 128891264 128891264 G C SNP UTP14A NM_006649 human genbank 54_36p 1 provisional nonstop c.2315 p.*772S 0.02 NULL HMMPfam_Utp14 - no_errors BCORL1 63035 broad.mit.edu 36 X 128975119 128975119 + Silent SNP A A G novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 128975119 128975119 A G SNP BCORL1 NM_021946 human genbank 54_36p 1 validated silent c.690 p.P230 0.97 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors BCORL1 63035 broad.mit.edu 36 X 128976503 128976503 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 128976503 128976503 G A SNP BCORL1 NM_021946 human genbank 54_36p 1 validated missense c.2074 p.E692K 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors BCORL1 63035 broad.mit.edu 36 X 128977107 128977122 + Frame_Shift_Del DEL GCTCCTTCGTTCCAGA - GCTCCTTCGTTCCAGA novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 GCTCCTTCGTTCCAGA GCTCCTTCGTTCCAGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 128977107 128977122 GCTCCTTCGTTCCAGA - DEL BCORL1 NM_021946 human genbank 54_36p 1 validated frame_shift_del c.2678_2693 p.S894fs 0.998:0.988:0.975:0.970:0.823:0.808:0.745:0.595:0.582:0.604:0.614:0.692:0.710:0.740:0.989:0.998 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "(deletion:cds_exon[128974607,128977870])" no_errors BCORL1 63035 broad.mit.edu 36 X 128984616 128984616 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 128984616 128984616 G A SNP BCORL1 NM_021946 human genbank 54_36p 1 validated missense c.3671 p.R1224H 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors BCORL1 63035 broad.mit.edu 36 X 128990344 128990344 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 128990344 128990344 C A SNP BCORL1 NM_021946 human genbank 54_36p 1 validated missense c.4132 p.L1378I 1 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ELF4 2000 broad.mit.edu 36 X 129031065 129031065 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 129031065 129031065 G A SNP ELF4 NM_001421 human genbank 54_36p -1 validated missense c.1078 p.P360S 0.8 superfamily_SSF46785 "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors AIFM1 9131 broad.mit.edu 36 X 129091276 129091276 + Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 129091276 129091276 C G SNP AIFM1 NM_004208 human genbank 54_36p -1 reviewed missense c.1779 p.K593N 1 superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain" - no_errors AIFM1 9131 broad.mit.edu 36 X 129109175 129109175 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 129109175 129109175 G T SNP AIFM1 NM_004208 human genbank 54_36p -1 reviewed missense c.579 p.F193L 1 "HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,superfamily_FAD/NAD(P)-binding domain" - no_errors ZNF280C 55609 broad.mit.edu 36 X 129205285 129205285 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 129205285 129205285 G A SNP ZNF280C NM_017666 human genbank 54_36p -1 validated missense c.314 p.S105L 0.04 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SLC25A14 9016 broad.mit.edu 36 X 129306840 129306840 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 129306840 129306840 C A SNP SLC25A14 NM_003951 human genbank 54_36p 1 reviewed missense c.79 p.Q27K 1 NULL "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" - no_errors GPR119 139760 broad.mit.edu 36 X 129346247 129346247 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 129346247 129346247 C A SNP GPR119 NM_178471 human genbank 54_36p -1 provisional missense c.856 p.V286L 1 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR119 139760 broad.mit.edu 36 X 129346511 129346511 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 129346511 129346511 G T SNP GPR119 NM_178471 human genbank 54_36p -1 provisional missense c.592 p.Q198K 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors RBMX2 51634 broad.mit.edu 36 X 129370969 129370969 + Silent SNP A A G novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 129370969 129370969 A G SNP RBMX2 NM_016024 human genbank 54_36p 1 validated silent c.231 p.K77 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ARHGAP36 158763 broad.mit.edu 36 X 130043567 130043570 + Frame_Shift_Del DEL GACA - GACA novel Unknown TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 GACA GACA - - GACA GACA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 130043567 130043570 GACA - DEL FLJ30058 NM_144967 human genbank 54_36p 1 validated frame_shift_del c.247_250 p.D83fs 0.791:0.800:0.786:0.845 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "(deletion:cds_exon[130043321,130043573])" no_errors ARHGAP36 158763 broad.mit.edu 36 X 130046292 130046292 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 130046292 130046292 G A SNP FLJ30058 NM_144967 human genbank 54_36p 1 validated missense c.760 p.V254M 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors IGSF1 3547 broad.mit.edu 36 X 130237644 130237644 + Silent SNP G G A novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 130237644 130237644 G A SNP IGSF1 NM_001555 human genbank 54_36p -1 validated silent c.2868 p.L956 0.55 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408" - no_errors IGSF1 3547 broad.mit.edu 36 X 130244862 130244862 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 130244862 130244862 T C SNP IGSF1 NM_001555 human genbank 54_36p -1 validated missense c.725 p.E242G 1 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors USP26 83844 broad.mit.edu 36 X 131987996 131987996 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 131987996 131987996 G C SNP USP26 NM_031907 human genbank 54_36p -1 reviewed missense c.1919 p.S640C 0 "superfamily_Cysteine proteinases,HMMPfam_UCH" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors TFDP3 51270 broad.mit.edu 36 X 132179527 132179527 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx X 132179527 132179527 C G SNP TFDP3 NM_016521 human genbank 54_36p -1 validated missense c.247 p.A83P 1 "HMMPfam_E2F_TDP,superfamily_Winged helix DNA-binding domain" "HMMPfam_E2F_TDP,superfamily_Winged helix DNA-binding domain,HMMPfam_DP" - no_errors PHF6 84295 broad.mit.edu 36 X 133376711 133376711 + Splice_Site SNP G G C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 133376711 133376711 G C SNP PHF6 NM_001015877 human genbank 54_36p 1 reviewed splice_site c.730-1 e7-1 1 - - - no_errors DDX26B 203522 broad.mit.edu 36 X 134534421 134534421 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 134534421 134534421 G T SNP DDX26B NM_182540 human genbank 54_36p 1 validated nonsense c.1303 p.E435* 1 NULL "superfamily_vWA-like,PatternScan_DEAD_ATP_HELICASE" - no_errors DDX26B 203522 broad.mit.edu 36 X 134534562 134534562 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 134534562 134534562 C T SNP DDX26B NM_182540 human genbank 54_36p 1 validated missense c.1444 p.L482F 0.27 NULL "PatternScan_DEAD_ATP_HELICASE,superfamily_vWA-like" - no_errors SAGE1 55511 broad.mit.edu 36 X 134818353 134818353 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 134818353 134818353 G A SNP SAGE1 NM_018666 human genbank 54_36p 1 reviewed missense c.1352 p.R451Q 0 NULL NULL - no_errors SAGE1 55511 broad.mit.edu 36 X 134820333 134820333 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 134820333 134820333 G A SNP SAGE1 NM_018666 human genbank 54_36p 1 reviewed missense c.1958 p.R653H 0 NULL NULL - no_errors SLC9A6 10479 broad.mit.edu 36 X 134920373 134920373 + Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 134920373 134920373 G T SNP SLC9A6 NM_001042537 human genbank 54_36p 1 validated missense c.1006 p.A336S 1 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors MAP7D3 79649 broad.mit.edu 36 X 135130616 135130616 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 135130616 135130616 G T SNP MAP7D3 NM_024597 human genbank 54_36p -1 validated missense c.2460 p.D820E 0 NULL HMMPfam_MAP7 - no_errors GPR112 139378 broad.mit.edu 36 X 135255144 135255144 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 135255144 135255144 C G SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.1613 p.P538R 0.01 NULL "superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR112 139378 broad.mit.edu 36 X 135313105 135313105 + Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 135313105 135313105 T G SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.8612 p.V2871G 1 HMMPfam_7tm_2 "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_ConA_like_lec_gl,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors VGLL1 51442 broad.mit.edu 36 X 135458788 135458788 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 135458788 135458788 G A SNP VGLL1 NM_016267 human genbank 54_36p 1 provisional missense c.589 p.G197R 0.25 NULL "HMMPfam_Vg_Tdu,HMMSmart_SM00711" - no_errors ZIC3 7547 broad.mit.edu 36 X 136476579 136476579 + Silent SNP G G A novel Unknown TCGA-13-1477-01A-01D TCGA-13-1477-10A-01D G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 136476579 136476579 G A SNP ZIC3 NM_003413 human genbank 54_36p 1 reviewed silent c.63 p.A21 1 NULL "HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZIC3 7547 broad.mit.edu 36 X 136477535 136477535 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 136477535 136477535 C G SNP ZIC3 NM_003413 human genbank 54_36p 1 reviewed missense c.1019 p.A340G 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors ZIC3 7547 broad.mit.edu 36 X 136478821 136478821 + Silent SNP C C T novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 136478821 136478821 C T SNP ZIC3 NM_003413 human genbank 54_36p 1 reviewed silent c.1155 p.D385 1 superfamily_SSF57667 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors F9 2158 broad.mit.edu 36 X 138450950 138450950 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 138450950 138450950 G C SNP F9 NM_000133 human genbank 54_36p 1 reviewed missense c.327 p.K109N 1 "superfamily_GLA-domain,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL" ############################################################################################################################################################################################################################################################### - no_errors ATP11C 286410 broad.mit.edu 36 X 138641482 138641482 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 138641482 138641482 C A SNP ATP11C NM_173694 human genbank 54_36p -1 validated missense c.3396 p.L1132F 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP11C 286410 broad.mit.edu 36 X 138693059 138693059 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 138693059 138693059 G C SNP ATP11C NM_173694 human genbank 54_36p -1 validated missense c.1709 p.S570W 1 "superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N" "HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors ATP11C 286410 broad.mit.edu 36 X 138729162 138729162 + Splice_Site SNP C C T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 138729162 138729162 C T SNP ATP11C NM_173694 human genbank 54_36p -1 validated splice_site c.246+1 e3+1 1 - - - no_errors MAGEC1 9947 broad.mit.edu 36 X 140823425 140823425 + Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 140823425 140823425 T A SNP MAGEC1 NM_005462 human genbank 54_36p 1 reviewed missense c.2569 p.S857T 0 NULL HMMPfam_MAGE - no_errors SPANXN4 441525 broad.mit.edu 36 X 141949669 141949669 + Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 141949669 141949669 G T SNP SPANXN4 NM_001009613 human genbank 54_36p 1 validated nonsense c.271 p.G91* 0 NULL NULL - no_errors SLITRK4 139065 broad.mit.edu 36 X 142544093 142544093 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 142544093 142544093 G T SNP SLITRK4 NM_173078 human genbank 54_36p -1 validated missense c.2498 p.A833D 1 NULL "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRNT" - no_errors SLITRK4 139065 broad.mit.edu 36 X 142544276 142544276 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 142544276 142544276 A G SNP SLITRK4 NM_173078 human genbank 54_36p -1 validated missense c.2315 p.I772T 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like" - no_errors SPANXN2 494119 broad.mit.edu 36 X 142623233 142623233 + Silent SNP G G T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 142623233 142623233 G T SNP SPANXN2 NM_001009615 human genbank 54_36p -1 provisional silent c.111 p.P37 0 HMMPfam_SPAN-X HMMPfam_SPAN-X - no_errors SLITRK2 84631 broad.mit.edu 36 X 144711699 144711699 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 144711699 144711699 C T SNP SLITRK2 NM_032539 human genbank 54_36p 1 validated missense c.64 p.R22C 1 NULL "HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT" - no_errors SLITRK2 84631 broad.mit.edu 36 X 144713171 144713171 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 144713171 144713171 A C SNP SLITRK2 NM_032539 human genbank 54_36p 1 validated missense c.1536 p.K512N 0.91 "HMMSmart_SM00369,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like" - no_errors FMR1 2332 broad.mit.edu 36 X 146832392 146832392 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 146832392 146832392 G A SNP FMR1 NM_002024 human genbank 54_36p 1 reviewed missense c.1325 p.R442Q 1 NULL "HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1" - no_errors FMR1NB 158521 broad.mit.edu 36 X 146897883 146897883 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 146897883 146897883 G C SNP FMR1NB NM_152578 human genbank 54_36p 1 provisional missense c.592 p.V198L 1 NULL NULL - no_errors AFF2 2334 broad.mit.edu 36 X 147726897 147726897 + Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 147726897 147726897 C T SNP AFF2 NM_002025 human genbank 54_36p 1 validated missense c.1121 p.S374F 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors AFF2 2334 broad.mit.edu 36 X 147845064 147845064 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 147845064 147845064 C T SNP AFF2 NM_002025 human genbank 54_36p 1 validated missense c.1789 p.R597C 1 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors MAGEA11 4110 broad.mit.edu 36 X 148576548 148576548 + Silent SNP A A G novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 148576548 148576548 A G SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed silent c.711 p.Y237 0.17 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAGEA11 4110 broad.mit.edu 36 X 148576687 148576687 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 148576687 148576687 C T SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed missense c.572 p.S191N 0 NULL HMMPfam_MAGE - no_errors MAGEA11 4110 broad.mit.edu 36 X 148576946 148576946 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 148576946 148576946 C A SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed missense c.313 p.D105Y 0.01 NULL HMMPfam_MAGE - no_errors MAMLD1 10046 broad.mit.edu 36 X 149389665 149389665 + Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 149389665 149389665 C G SNP MAMLD1 NM_005491 human genbank 54_36p 1 validated missense c.1162 p.L388V 0.89 NULL NULL - no_errors MTM1 4534 broad.mit.edu 36 X 149560547 149560547 + Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 149560547 149560547 C T SNP MTM1 NM_000252 human genbank 54_36p 1 reviewed missense c.676 p.P226S 1 "superfamily_SSF52799,HMMPfam_Myotub-related" "HMMPfam_GRAM,HMMSmart_GRAM,superfamily_SSF50729,superfamily_SSF52799,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1" - no_errors MTMR1 8776 broad.mit.edu 36 X 149656477 149656477 + Missense_Mutation SNP T T A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 149656477 149656477 T A SNP MTMR1 NM_003828 human genbank 54_36p 1 reviewed missense c.1348 p.S450T 0.9 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404" "HMMSmart_SM00568,superfamily_PH domain-like,HMMPfam_GRAM,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors GPR50 9248 broad.mit.edu 36 X 150099212 150099212 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 150099212 150099212 G T SNP GPR50 NM_004224 human genbank 54_36p 1 validated missense c.499 p.G167C 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_TRYPSIN_HIS" - no_errors GABRE 2564 broad.mit.edu 36 X 150874650 150874650 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 150874650 150874650 C T SNP GABRE NM_004961 human genbank 54_36p -1 reviewed missense c.983 p.R328H 1 "superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors GABRE 2564 broad.mit.edu 36 X 150889328 150889328 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 150889328 150889328 G A SNP GABRE NM_004961 human genbank 54_36p -1 reviewed missense c.259 p.R87C 1 "HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD" "HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL" - no_errors MAGEA3 4102 broad.mit.edu 36 X 151686046 151686046 + Silent SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 151686046 151686046 C A SNP MAGEA3 NM_005362 human genbank 54_36p -1 reviewed silent c.777 p.R259 0 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAGEA3 4102 broad.mit.edu 36 X 151686585 151686585 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 151686585 151686585 A C SNP MAGEA3 NM_005362 human genbank 54_36p -1 reviewed missense c.238 p.W80G 0 NULL HMMPfam_MAGE - no_errors ZNF185 7739 broad.mit.edu 36 X 151864628 151864628 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 151864628 151864628 C A SNP ZNF185 NM_007150 human genbank 54_36p 1 validated missense c.1370 p.S457Y 0 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors PNMA5 114824 broad.mit.edu 36 X 151910022 151910022 + Silent SNP G G A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 151910022 151910022 G A SNP PNMA5 NM_001103150 human genbank 54_36p -1 validated silent c.777 p.V259 0 NULL NULL - no_errors PNMA5 114824 broad.mit.edu 36 X 151910376 151910376 + Silent SNP T T C novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 151910376 151910376 T C SNP PNMA5 NM_001103150 human genbank 54_36p -1 validated silent c.423 p.Q141 0 NULL NULL - no_errors PNMA3 29944 broad.mit.edu 36 X 151976523 151976523 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 151976523 151976523 T C SNP PNMA3 NM_013364 human genbank 54_36p 1 reviewed missense c.455 p.V152A 0.45 NULL NULL - no_errors TREX2 11219 broad.mit.edu 36 X 152363969 152363969 + Silent SNP G G T novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 152363969 152363969 G T SNP TREX2 NM_080701 human genbank 54_36p -1 reviewed silent c.114 p.S38 0.89 "HMMSmart_EXOIII,HMMPfam_Exonuc_X-T,superfamily_RNaseH_fold" "HMMSmart_EXOIII,HMMPfam_Exonuc_X-T,superfamily_RNaseH_fold" - no_errors ATP2B3 492 broad.mit.edu 36 X 152460403 152460403 + Silent SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 152460403 152460403 C T SNP ATP2B3 NM_001001344 human genbank 54_36p 1 reviewed silent c.489 p.S163 0.43 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase" ############################################################################################################################################################################################################################################################### - no_errors DUSP9 1852 broad.mit.edu 36 X 152568794 152568794 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 152568794 152568794 A T SNP DUSP9 NM_001395 human genbank 54_36p 1 reviewed missense c.995 p.N332I 1 "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" "PatternScan_TYR_PHOSPHATASE_1,superfamily_Rhodanese-like,HMMSmart_RHOD,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" - no_errors SRPK3 26576 broad.mit.edu 36 X 152702942 152702942 + Splice_Site SNP G G C novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 152702942 152702942 G C SNP SRPK3 NM_014370 human genbank 54_36p 1 provisional splice_site c.1148-1 e11-1 0.95 - - - no_errors SRPK3 26576 broad.mit.edu 36 X 152702944 152702944 + Silent SNP A A T novel Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 152702944 152702944 A T SNP SRPK3 NM_014370 human genbank 54_36p 1 provisional silent c.1149 p.T383 0.54 "superfamily_Kinase_like,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors L1CAM 3897 broad.mit.edu 36 X 152783059 152783059 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 152783059 152783059 C T SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed nonsense c.3234 p.W1078* 1 superfamily_Fibronectin type III "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors L1CAM 3897 broad.mit.edu 36 X 152783108 152783108 + Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 152783108 152783108 G A SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.3185 p.S1062F 0 superfamily_Fibronectin type III "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors L1CAM 3897 broad.mit.edu 36 X 152784006 152784006 + Silent SNP G G T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx X 152784006 152784006 G T SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed silent c.2691 p.A897 0.79 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors L1CAM 3897 broad.mit.edu 36 X 152784144 152784144 + Silent SNP C C T novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 152784144 152784144 C T SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed silent c.2553 p.T851 0.99 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors L1CAM 3897 broad.mit.edu 36 X 152784377 152784377 + Silent SNP G G C novel Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx X 152784377 152784377 G C SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed silent c.2523 p.V841 0.99 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors L1CAM 3897 broad.mit.edu 36 X 152789738 152789738 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 152789738 152789738 G A SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.491 p.A164V 0.3 "HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors NAA10 8260 broad.mit.edu 36 X 152848718 152848718 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 152848718 152848718 G T SNP ARD1A NM_003491 human genbank 54_36p -1 provisional missense c.624 p.D208E 1 NULL "superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1" - no_errors HCFC1 3054 broad.mit.edu 36 X 152875620 152875620 + Missense_Mutation SNP T T A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 152875620 152875620 T A SNP HCFC1 NM_005334 human genbank 54_36p -1 reviewed missense c.2439 p.K813N 1 NULL "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors HCFC1 3054 broad.mit.edu 36 X 152889377 152889377 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 152889377 152889377 G A SNP HCFC1 NM_005334 human genbank 54_36p -1 reviewed missense c.109 p.R37C 1 "HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain" "HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Kelch_1,superfamily_Fibronectin type III,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2" - no_errors IRAK1 3654 broad.mit.edu 36 X 152931859 152931859 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 152931859 152931859 C T SNP IRAK1 NM_001569 human genbank 54_36p -1 reviewed missense c.1759 p.E587K 1 NULL "superfamily_DEATH domain,HMMPfam_Death,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TKTL1 8277 broad.mit.edu 36 X 153177534 153177534 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 153177534 153177534 G A SNP TKTL1 NM_012253 human genbank 54_36p 1 validated missense c.128 p.S43N 0.01 superfamily_Thiamin diphosphate-binding fold (THDP-binding) "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" - no_errors TKTL1 8277 broad.mit.edu 36 X 153194190 153194202 + Frame_Shift_Del DEL AAATTAATTGAGA - AAATTAATTGAGA novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 AAATTAATTGAGA AAATTAATTGAGA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx X 153194190 153194202 AAATTAATTGAGA - DEL TKTL1 NM_012253 human genbank 54_36p 1 validated frame_shift_del c.736_748 p.K246fs 0.990:0.986:0.036:0.038:0.093:0.110:0.979:0.996:0.990:0.996:1.000:1.000:1.000 superfamily_Thiamin diphosphate-binding fold (THDP-binding) "superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C" "(deletion:cds_exon[153194125,153194318])" no_errors TKTL1 8277 broad.mit.edu 36 X 153202398 153202398 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 153202398 153202398 G C SNP TKTL1 NM_012253 human genbank 54_36p 1 validated missense c.1130 p.G377A 0.95 "HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding)" "HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding)" - no_errors TKTL1 8277 broad.mit.edu 36 X 153209201 153209201 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 153209201 153209201 C G SNP TKTL1 NM_012253 human genbank 54_36p 1 validated missense c.1472 p.A491G 0.53 "HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like" "HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding)" - no_errors FLNA 2316 broad.mit.edu 36 X 153246510 153246511 + Missense_Mutation DNP TT TT CC novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 TT TT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 153246510 153246511 TT CC DNP FLNA NM_001456 human genbank 54_36p -1 reviewed missense c.1701_1700 p.E567G 1.000:1.000 "HMMPfam_Filamin,superfamily_E set domains,HMMSmart_SM00557" "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557" - no_errors RPL10 6134 broad.mit.edu 36 X 153282294 153282294 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 153282294 153282294 A C SNP RPL10 NM_006013 human genbank 54_36p 1 reviewed missense c.550 p.M184L 1 NULL "superfamily_Ribosomal protein L10e,HMMPfam_Ribosomal_L16,PatternScan_RIBOSOMAL_L10E" - no_errors ATP6AP1 537 broad.mit.edu 36 X 153315772 153315772 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Broad454;Capture Illumina GAIIx X 153315772 153315772 G T SNP ATP6AP1 NM_001183 human genbank 54_36p 1 reviewed missense c.709 p.A237S 0.98 HMMPfam_ATP-synt_S1 HMMPfam_ATP-synt_S1 - no_errors ATP6AP1 537 broad.mit.edu 36 X 153316907 153316907 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 153316907 153316907 C A SNP ATP6AP1 NM_001183 human genbank 54_36p 1 reviewed nonsense c.1065 p.Y355* 0.64 HMMPfam_ATP-synt_S1 HMMPfam_ATP-synt_S1 - no_errors ATP6AP1 537 broad.mit.edu 36 X 153317328 153317328 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 153317328 153317328 T C SNP ATP6AP1 NM_001183 human genbank 54_36p 1 reviewed missense c.1310 p.L437P 1 HMMPfam_ATP-synt_S1 HMMPfam_ATP-synt_S1 - no_errors FAM50A 9130 broad.mit.edu 36 X 153331253 153331253 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 153331253 153331253 C T SNP FAM50A NM_004699 human genbank 54_36p 1 provisional silent c.756 p.I252 1 HMMPfam_XAP5 HMMPfam_XAP5 - no_errors PLXNA3 55558 broad.mit.edu 36 X 153352653 153352653 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 153352653 153352653 G A SNP PLXNA3 NM_017514 human genbank 54_36p 1 validated missense c.5168 p.R1723H 1 "HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" "superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors G6PD 2539 broad.mit.edu 36 X 153414085 153414085 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 153414085 153414085 C A SNP G6PD NM_000402 human genbank 54_36p -1 reviewed missense c.1268 p.R423L 1 "superfamily_SSF55347,HMMPfam_G6PD_C" "superfamily_NAD(P)-bd,HMMPfam_G6PD_N,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347,HMMPfam_G6PD_C" - no_errors IKBKG 8517 broad.mit.edu 36 X 153423786 153423786 + Silent SNP G G A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 153423786 153423786 G A SNP IKBKG ENST00000369609 human ensembl 54_36p 1 known silent c.114 p.E38 0 NULL NULL - no_errors CTAG2 30848 broad.mit.edu 36 X 153534019 153534019 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 153534019 153534019 G T SNP CTAG2 NM_020994 human genbank 54_36p -1 validated missense c.350 p.P117H 0 HMMPfam_Pcc1 HMMPfam_Pcc1 - no_errors GAB3 139716 broad.mit.edu 36 X 153577485 153577485 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx X 153577485 153577485 A T SNP GAB3 NM_001081573 human genbank 54_36p -1 reviewed missense c.1431 p.S477R 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors GAB3 139716 broad.mit.edu 36 X 153597791 153597791 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 153597791 153597791 C T SNP GAB3 NM_001081573 human genbank 54_36p -1 reviewed missense c.80 p.R27H 1 "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" "HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like" - no_errors F8 2157 broad.mit.edu 36 X 153810116 153810116 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 153810116 153810116 G A SNP F8 NM_000132 human genbank 54_36p -1 reviewed nonsense c.5143 p.R1715* 0.99 superfamily_Cupredoxins "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors F8 2157 broad.mit.edu 36 X 153880954 153880954 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 153880954 153880954 A T SNP F8 NM_000132 human genbank 54_36p -1 reviewed missense c.259 p.W87R 0.99 superfamily_Cupredoxins "HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins,superfamily_Galactose-binding domain-like,HMMPfam_Cu-oxidase_2,HMMPfam_Cu-oxidase_3" - no_errors BRCC3 79184 broad.mit.edu 36 X 153953096 153953096 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx X 153953096 153953096 G A SNP BRCC3 NM_024332 human genbank 54_36p 1 reviewed missense c.100 p.V34I 1 "HMMPfam_Mov34,superfamily_JAB1/MPN domain,HMMSmart_SM00232" "HMMPfam_Mov34,superfamily_JAB1/MPN domain,HMMSmart_SM00232" - no_errors TTN 7273 broad.mit.edu 36 2 179102045 179102045 + Missense_Mutation SNP T T G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179102045 179102045 T G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.94622 p.K31541T 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179105808 179105808 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179105808 179105808 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.91723 p.R30575C 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179107331 179107331 + Missense_Mutation SNP C C G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179107331 179107331 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.90200 p.R30067T 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179112913 179112913 + Nonsense_Mutation SNP T T A novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179112913 179112913 T A SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.86068 p.R28690* 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179123136 179123136 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179123136 179123136 T A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.79618 p.T26540S 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179133837 179133837 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 179133837 179133837 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.73211 p.R24404L 0.92 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179136181 179136181 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179136181 179136181 A G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.70867 p.Y23623H 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179137459 179137459 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179137459 179137459 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.69589 p.R23197C 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179137488 179137488 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179137488 179137488 A G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.69560 p.I23187T 0.99 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179140781 179140781 + Silent SNP C C T novel Unknown TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179140781 179140781 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.66267 p.Q22089 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179141455 179141455 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 179141455 179141455 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.65593 p.E21865K 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179150626 179150626 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179150626 179150626 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.56716 p.I18906V 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179162150 179162150 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179162150 179162150 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.50491 p.A16831T 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179162257 179162257 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179162257 179162257 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.50384 p.R16795T 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179164298 179164298 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A T T A A Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 2 179164298 179164298 A T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.48343 p.S16115T 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179165469 179165469 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179165469 179165469 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.47452 p.P15818S 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179165786 179165786 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 179165786 179165786 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.47249 p.A15750V 1 "HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179184780 179184780 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179184780 179184780 A C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.38447 p.V12816G 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179193426 179193426 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179193426 179193426 T G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.34013 p.H11338P 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179193495 179193495 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W T T A A T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179193495 179193495 T A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.33944 p.K11315M 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179205742 179205742 + Silent SNP T T C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 2 179205742 179205742 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.31182 p.T10394 0.93 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179218999 179218999 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179218999 179218999 G A SNP TTN ENST00000356127 human ensembl 54_36p -1 known missense c.2984 p.P995L 1 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,HMMPfam_I-set,HMMPfam_ig,PatternScan_FGGY_KINASES_1" - no_stop_codon TTN 7273 broad.mit.edu 36 2 179225077 179225077 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 179225077 179225077 G C SNP TTN ENST00000356127 human ensembl 54_36p -1 known missense c.2371 p.P791A 1 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,HMMPfam_I-set,HMMPfam_ig,PatternScan_FGGY_KINASES_1" - no_stop_codon TTN 7273 broad.mit.edu 36 2 179284993 179284993 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179284993 179284993 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.24077 p.N8026S 0.1 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179292396 179292396 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179292396 179292396 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.20234 p.R6745H 0.24 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179293907 179293907 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture WU-454;Capture Illumina GAIIx 2 179293907 179293907 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.19352 p.A6451V 0.95 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179308659 179308659 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179308659 179308659 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.11027 p.T3676M 0.03 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179313133 179313133 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179313133 179313133 C A SNP TTN ENST00000359218 human ensembl 54_36p -1 known nonsense c.12364 p.E4122* 0.21 NULL "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,PatternScan_FGGY_KINASES_1" - no_stop_codon TTN 7273 broad.mit.edu 36 2 179320116 179320117 + Missense_Mutation DNP TG TG CT novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W TG TG Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 179320116 179320117 TG CT DNP TTN ENST00000360870 human ensembl 54_36p -1 known missense c.15256_15255 p.T5086A 1.000 TTN 7273 broad.mit.edu 36 2 179320284 179320284 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W T T G G T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 179320284 179320284 T G SNP TTN ENST00000360870 human ensembl 54_36p -1 known missense c.15088 p.T5030P 0.1 NULL "PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726" - no_errors TTN 7273 broad.mit.edu 36 2 179320360 179320360 + Silent SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179320360 179320360 G A SNP TTN ENST00000360870 human ensembl 54_36p -1 known silent c.15012 p.D5004 0.83 NULL "PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726" - no_errors TTN 7273 broad.mit.edu 36 2 179320783 179320783 + Silent SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 179320783 179320783 A T SNP TTN ENST00000360870 human ensembl 54_36p -1 known silent c.14589 p.V4863 0 NULL "PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726" - no_errors TTN 7273 broad.mit.edu 36 2 179330634 179330634 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D C C Unknown Unknown Somatic Phase_I Capture Capture Illumina GAIIx 2 179330634 179330634 C A SNP TTN ENST00000359218 human ensembl 54_36p -1 known missense c.10426 p.G3476C 1 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set" "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,PatternScan_FGGY_KINASES_1" - no_stop_codon TTN 7273 broad.mit.edu 36 2 179337195 179337195 + Silent SNP A A T novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179337195 179337195 A T SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.10068 p.T3356 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179349789 179349789 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 2 179349789 179349789 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.5047 p.R1683* 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179357086 179357086 + Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179357086 179357086 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.2731 p.V911I 0.89 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 broad.mit.edu 36 2 179358642 179358642 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 179358642 179358642 G C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.2443 p.H815D 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179100092 179100100 + In_Frame_Del DEL TCAGGGTTG TCAGGGTTG - novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 TCAGGGTTG TCAGGGTTG TCAGGGTTG - TCAGGGTTG TCAGGGTTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179100092 179100100 TCAGGGTTG - DEL TTN ENST00000375038 human ensembl 54_36p -1 known in_frame_del c.95812_95804 p.TTL31935in_frame_del 1.000 TTN 7273 genome.wustl.edu 36 2 179103710 179103710 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179103710 179103710 T A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.93821 p.K31274I 0.89 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179103896 179103896 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179103896 179103896 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.93635 p.P31212L 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179105686 179105686 + Silent SNP T T C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179105686 179105686 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.91845 p.P30615 0.99 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179105859 179105859 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179105859 179105859 G C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.91672 p.Q30558E 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179107066 179107066 + Silent SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179107066 179107066 G C SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.90465 p.V30155 0.98 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179115333 179115333 + Missense_Mutation SNP C C T rs55915651 Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179115333 179115333 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.85339 p.E28447K 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179133251 179133251 + Silent SNP T T G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179133251 179133251 T G SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.73797 p.G24599 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179139089 179139089 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179139089 179139089 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.67959 p.K22653N 1 "HMMSmart_SM00409,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179144336 179144336 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179144336 179144336 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.62712 p.D20904E 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179145912 179145912 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179145912 179145912 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.61136 p.R20379H 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179148835 179148835 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179148835 179148835 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.58213 p.K19405E 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179163234 179163234 + Silent SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179163234 179163234 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.49407 p.V16469 0.64 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179166415 179166415 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179166415 179166415 G C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.46709 p.T15570R 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179172732 179172732 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179172732 179172732 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.44087 p.P14696L 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179174109 179174109 + Silent SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179174109 179174109 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.43713 p.G14571 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179180493 179180493 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179180493 179180493 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.41113 p.V13705I 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179185371 179185371 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179185371 179185371 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.38072 p.K12691R 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179190353 179190355 + In_Frame_Del DEL CTT CTT - novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 CTT CTT CTT - CTT CTT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179190353 179190355 CTT - DEL TTN ENST00000375038 human ensembl 54_36p -1 known in_frame_del c.35650_35648 p.E11883in_frame_del 1.000 TTN 7273 genome.wustl.edu 36 2 179193272 179193272 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179193272 179193272 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.34167 p.D11389 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179203266 179203266 + Missense_Mutation SNP C A A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179203266 179203266 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.32174 p.G10725V 0.89 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179205590 179205590 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179205590 179205590 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.31334 p.S10445L 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179206827 179206827 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179206827 179206827 A T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.30590 p.V10197D 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179267628 179267628 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179267628 179267628 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.27637 p.I9213V 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179285426 179285426 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179285426 179285426 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.23736 p.Q7912H 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179287436 179287436 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179287436 179287436 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.22578 p.F7526 1 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179300650 179300650 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179300650 179300650 A C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.16168 p.Y5390D 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179300652 179300652 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179300652 179300652 A C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.16166 p.L5389R 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179309012 179309012 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179309012 179309012 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.10674 p.K3558N 0.99 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179313341 179313341 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179313341 179313341 C A SNP TTN ENST00000359218 human ensembl 54_36p -1 known missense c.12156 p.E4052D 1 NULL "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,PatternScan_FGGY_KINASES_1" - no_stop_codon TTN 7273 genome.wustl.edu 36 2 179321800 179321800 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 179321800 179321800 A G SNP TTN ENST00000360870 human ensembl 54_36p -1 known silent c.13572 p.D4524 0 NULL "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS" - no_errors TTN 7273 genome.wustl.edu 36 2 179324089 179324089 + Silent SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179324089 179324089 C T SNP TTN ENST00000360870 human ensembl 54_36p -1 known silent c.11283 p.K3761 0 NULL "PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726" - no_errors TTN 7273 genome.wustl.edu 36 2 179324750 179324750 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179324750 179324750 T A SNP TTN ENST00000360870 human ensembl 54_36p -1 known missense c.10622 p.N3541I 0.93 "HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726" "PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726" - no_errors TTN 7273 genome.wustl.edu 36 2 179341885 179341885 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179341885 179341885 G C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.8923 p.L2975V 1 "HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179348920 179348920 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179348920 179348920 T A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.5916 p.E1972D 0.98 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179350261 179350261 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179350261 179350261 A C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.4674 p.F1558L 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 genome.wustl.edu 36 2 179351902 179351902 + Silent SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179351902 179351902 A G SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.4152 p.A1384 0.98 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179107966 179107966 + Silent SNP G G A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 179107966 179107966 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.89565 p.N29855 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_Pkinase,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179134636 179134636 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 179134636 179134636 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.72412 p.P24138T 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179143360 179143360 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 179143360 179143360 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.63688 p.R21230S 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179178103 179178103 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 179178103 179178103 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.41992 p.I13998V 0.99 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179180565 179180565 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 179180565 179180565 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.41041 p.R13681C 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179188626 179188626 + Missense_Mutation SNP C T T novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 179188626 179188626 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.36393 p.M12131I 1 "superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179290639 179290639 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 2 179290639 179290639 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.21475 p.D7159H 0.97 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors TTN 7273 hgsc.bcm.edu 36 2 179320766 179320766 + Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 179320766 179320766 G T SNP TTN ENST00000360870 human ensembl 54_36p -1 known missense c.14606 p.A4869D 0.01 NULL "PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726" - no_errors TTN 7273 hgsc.bcm.edu 36 2 179354220 179354220 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 179354220 179354220 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.3396 p.Y1132* 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 213968176 213968176 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 213968176 213968176 T C SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.11885 p.E3962G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 214030129 214030129 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214030129 214030129 A T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed nonsense c.10077 p.C3359* 1 "HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 214039056 214039056 + Silent SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214039056 214039056 C A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed silent c.9774 p.R3258 0.98 "HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 214107136 214107136 + Splice_Site SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214107136 214107136 C A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed splice_site c.8682-1 e43-1 1 - - - no_errors USH2A 7399 genome.wustl.edu 36 1 214210718 214210718 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214210718 214210718 A G SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.6829 p.Y2277H 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 214313107 214313107 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214313107 214313107 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.5731 p.G1911R 1 "HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 214487150 214487150 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214487150 214487150 G A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed nonsense c.2209 p.R737* 0.83 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 genome.wustl.edu 36 1 214658565 214658565 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214658565 214658565 G A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.565 p.R189C 1 "HMMSmart_SM00560,superfamily_Concanavalin A-like lectins/glucanases" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 91725185 91725185 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 91725185 91725185 G A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.259 p.D87N 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 91725225 91725225 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 91725225 91725225 C T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.299 p.A100V 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 91725598 91725598 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 91725598 91725598 G T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.672 p.K224N 0.98 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 91725807 91725807 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 91725807 91725807 C T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.881 p.A294V 0.66 superfamily_Cadherin-like ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 92172134 92172134 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 92172134 92172134 A T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.6307 p.I2103F 1 "HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 92172530 92172530 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 92172530 92172530 T G SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.6703 p.F2235V 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 92207751 92207751 + Silent SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 92207751 92207751 C A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated silent c.9939 p.A3313 0.95 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 genome.wustl.edu 36 11 92239912 92239912 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 92239912 92239912 G A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.12016 p.A4006T 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors RB1 5925 genome.wustl.edu 36 13 47853541 47853556 + Frame_Shift_Del DEL ATGTGAACATCGAATC ATGTGAACATCGAATC - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 ATGTGAACATCGAATC ATGTGAACATCGAATC ATGTGAACATCGAATC - ATGTGAACATCGAATC ATGTGAACATCGAATC Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 47853541 47853556 ATGTGAACATCGAATC - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.1656_1671 p.C553fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000 "HMMPfam_RB_A,superfamily_Cyclin-like" "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C" "(deletion:cds_exon[47853384,47853580])" no_errors RB1 5925 genome.wustl.edu 36 13 47931968 47931968 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47931968 47931968 C A SNP RB1 NM_000321 human genbank 54_36p 1 reviewed missense c.2104 p.Q702K 1 "HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like" "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" - no_errors RB1 5925 genome.wustl.edu 36 13 47937375 47937375 + Nonsense_Mutation SNP C T T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47937375 47937375 C T SNP RB1 NM_000321 human genbank 54_36p 1 reviewed nonsense c.2359 p.R787* 1 HMMPfam_Rb_C "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" - no_errors RB1 5925 genome.wustl.edu 36 13 47937406 47937422 + Frame_Shift_Del DEL TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47937406 47937422 TACGGATTCCTGGAGGG - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.2390_2406 p.L797fs 0.997:0.978:1.000:1.000:0.968:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:0.443:0.994:1.000:0.997 HMMPfam_Rb_C "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" "(deletion:cds_exon[47937342,47937505])" no_errors C9orf171 389799 genome.wustl.edu 36 9 134364726 134364726 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 134364726 134364726 C T SNP C9orf171 NM_207417 human genbank 54_36p 1 predicted missense c.550 p.R184C 0.98 NULL NULL - no_errors C9orf171 389799 genome.wustl.edu 36 9 134437680 134437680 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 134437680 134437680 C A SNP C9orf171 NM_207417 human genbank 54_36p 1 predicted missense c.925 p.Q309K 1 NULL NULL - no_errors NF1 4763 genome.wustl.edu 36 17 26510201 26510219 + Frame_Shift_Del DEL GATTATATTGGATACACTG GATTATATTGGATACACTG - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GATTATATTGGATACACTG GATTATATTGGATACACTG GATTATATTGGATACACTG - GATTATATTGGATACACTG GATTATATTGGATACACTG Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 26510201 26510219 GATTATATTGGATACACTG - DEL NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_del c.252_270 p.I85fs 1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516" "(deletion:cds_exon[26510154,26510237])" no_errors NF1 4763 genome.wustl.edu 36 17 26521136 26521136 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26521136 26521136 T C SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed missense c.581 p.L194P 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 4763 genome.wustl.edu 36 17 26686014 26686032 + Frame_Shift_Del DEL ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA - novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA - ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26686014 26686032 ATGACTCCATGGCTGTCAA - DEL NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_del c.5845_5863 p.M1949fs 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:0.953:1.000 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" "(deletion:cds_exon[26685982,26686175])" no_errors NF1 4763 genome.wustl.edu 36 17 26687915 26687916 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 - - - T - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 26687915 26687916 - T INS NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_ins c.6284_6285 p.V2096fs 1.000:0.997 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors CDK12 51755 genome.wustl.edu 36 17 34872213 34872214 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 CT CT CT - CT CT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 34872213 34872214 CT - DEL CRKRS NM_016507 human genbank 54_36p 1 validated frame_shift_del c.363_364 p.L122fs 0.061:0.049 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" "(deletion:cds_exon[34871851,34872896])" no_errors CDK12 51755 genome.wustl.edu 36 17 34921343 34921343 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Verified Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 17 34921343 34921343 A G SNP CRKRS NM_016507 human genbank 54_36p 1 validated missense c.2702 p.Y901C 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors BRCA1 672 genome.wustl.edu 36 17 38497279 38497280 + Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 - - - TT - - Unknown Valid Somatic 4 Capture "454_PCR_WGA,Sanger_PCR_WGA" 1 dbGAP Illumina GAIIx 17 38497279 38497280 - TT INS BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_ins c.3795_3794 p.N1265fs 0.024:0.006 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors BRCA1 672 genome.wustl.edu 36 17 38512070 38512070 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic Phase_III PCR 454_PCR_WGA dbGAP ABI 3730xl 17 38512070 38512070 G C SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed missense c.141 p.C47W 1 "HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors ACBD4 79777 genome.wustl.edu 36 17 40569503 40569503 + Nonsense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 40569503 40569503 C T SNP ACBD4 NM_024722 human genbank 54_36p 1 reviewed nonsense c.199 p.R67* 0.77 "superfamily_ACBP,HMMPfam_ACBP" "superfamily_ACBP,HMMPfam_ACBP,PatternScan_ACB_1" - no_errors TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7514755 7514755 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514755 7514755 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.997 p.R333fs 0.03 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 7157 genome.wustl.edu 36 17 7514759 7514759 + Splice_Site SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514759 7514759 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.994-1 e9-1 1 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7517577 7517577 + Splice_Site SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C Verified Unknown Somatic Phase_III PCR Sanger_PCR_WGA dbGAP ABI 3730xl 17 7517577 7517577 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7517583 7517583 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517583 7517583 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.988 p.L330fs 1 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517578,7517651])" no_errors TP53 7157 genome.wustl.edu 36 17 7517743 7517743 + Splice_Site SNP C T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517743 7517743 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.919+1 e7+1 1 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517747 7517747 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.916 p.R306* 1 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517747 7517747 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.916 p.R306* 1 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A A rs28934574 Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517824 7517824 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517824 7517824 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.839 p.R280I 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517833 7517833 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517833 7517833 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.830 p.C277F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517837 7517837 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517837 7517837 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.826 p.A276P 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517839 7517839 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517839 7517839 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.824 p.C275Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517839 7517839 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517839 7517839 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.824 p.C275Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517842 7517842 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274D 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C A A rs28934576 Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture "454_PCR_WGA,Sanger_PCR_WGA" dbGAP Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517849 7517849 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C - C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517849 7517849 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.814 p.V272fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 7157 genome.wustl.edu 36 17 7517853 7517853 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517853 7517853 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.810 p.F270L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517867 7517867 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517867 7517867 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.796 p.G266R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517869 7517869 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 17 7517869 7517869 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.794 p.L265P 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7517871 7517872 + In_Frame_Ins INS - - AGATTACCACTACTC novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 - - - AGATTACCACTACTC - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517871 7517872 - AGATTACCACTACTC INS TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_ins c.792_791 p.265in_frame_insSSGNL 0.348:0.418 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518223 7518223 + Splice_Site SNP C T T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518223 7518223 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.782+1 e6+1 1 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7518226 7518226 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518226 7518226 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.780 p.S261fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 7157 genome.wustl.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518284 7518284 + Missense_Mutation SNP G A A rs28934573 Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518290 7518290 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518290 7518290 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.716 p.N239S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518295 7518295 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518295 7518295 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.711 p.M237I 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518299 7518299 + Missense_Mutation SNP T C C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518299 7518299 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.707 p.Y236C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518305 7518305 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518305 7518305 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.701 p.Y234C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518305 7518305 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518305 7518305 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.701 p.Y234C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518324 7518325 + Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 - - - A - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518324 7518325 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.682_681 p.D227fs 0.998:0.801 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518334 7518334 + Splice_Site SNP C T T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518334 7518334 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.673-1 e6-1 0.99 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7518928 7518928 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518928 7518928 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.646 p.V216M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518929 7518929 + Missense_Mutation SNP A T T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518929 7518929 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.645 p.S215R 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518937 7518937 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518937 7518937 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.637 p.R213* 0.38 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518945 7518949 + Frame_Shift_Del DEL TTTCT TTTCT - novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 TTTCT TTTCT TTTCT - TTTCT TTTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518945 7518949 TTTCT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.629_625 p.R209fs 0.000:0.000:0.000:0.000:0.003 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 7157 genome.wustl.edu 36 17 7518960 7518960 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518960 7518960 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.614 p.Y205C 0.97 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518960 7518960 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 T T T C T T Verified Valid Somatic Phase_III PCR 454_PCR_WGA dbGAP ABI 3730xl 17 7518960 7518960 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.614 p.Y205C 0.97 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518982 7518982 + Nonsense_Mutation SNP C A A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518982 7518982 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.592 p.E198* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518988 7518988 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518988 7518988 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.586 p.R196* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A T T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518996 7518996 + Missense_Mutation SNP T C C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518997 7518997 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518997 7518997 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.577 p.H193Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519015 7519015 + Splice_Site SNP C G G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519015 7519015 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.38 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7519113 7519113 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519113 7519113 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.542 p.R181P 0.97 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519125 7519125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519125 7519125 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.530 p.P177R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519156 7519157 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 - - - T - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519156 7519157 - T INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.499_498 p.Q166fs 0.998:0.836 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519165 7519165 + Missense_Mutation SNP T C C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519165 7519165 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.490 p.K164E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519179 7519179 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519179 7519179 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.476 p.A159V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519186 7519186 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519188 7519188 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519188 7519188 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.467 p.R156P 0.01 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519195 7519225 + Frame_Shift_Del DEL CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519195 7519225 CGGGCGGGGGTGTGGAATCAACCCACAGCTG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.460_430 p.Q144fs 0.496:0.001:0.001:0.001:0.001:0.996:0.998:0.906:0.998:0.997:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.014:0.987:0.994:0.947:0.886:0.843:0.860:0.979:0.970:0.987:0.998:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 7157 genome.wustl.edu 36 17 7519204 7519204 + Missense_Mutation SNP G G A rs28934874 Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519204 7519204 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.451 p.P151S 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519217 7519217 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519217 7519217 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.438 p.W146* 0.95 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519230 7519236 + Frame_Shift_Del DEL GGGCAGG GGGCAGG - novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GGGCAGG GGGCAGG GGGCAGG - GGGCAGG GGGCAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519230 7519236 GGGCAGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.425_419 p.T140fs 0.999:1.000:1.000:1.000:1.000:0.996:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 7157 genome.wustl.edu 36 17 7519251 7519251 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519251 7519251 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.404 p.C135Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519260 7519260 + Missense_Mutation SNP T A A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519260 7519260 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519280 7519280 + Splice_Site SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519280 7519280 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7520036 7520036 + Splice_Site SNP C A A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520036 7520036 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.375+1 e3+1 1 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7520037 7520037 + Silent SNP C C A rs55863639 Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520037 7520037 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed silent c.375 p.T125 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7520114 7520114 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520114 7520114 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.298 p.Q100* 0.6 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7520317 7520317 + Splice_Site SNP T T A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520317 7520317 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.97-2 e3-2 0.19 - - - no_errors LOC100130518 100130518 genome.wustl.edu 36 19 22290347 22290347 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 19 22290347 22290347 C G SNP LOC100130518 XM_001719773 human genbank 54_36p 1 model missense c.2405 p.T802S 0.96 superfamily_C2H2 and C2HC zinc fingers "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors GLI2 2736 genome.wustl.edu 36 2 121401446 121401446 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 121401446 121401446 C T SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.188 p.P63L 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GLI2 2736 genome.wustl.edu 36 2 121458760 121458760 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 121458760 121458760 G A SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.1927 p.V643I 0.69 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors GLI2 2736 genome.wustl.edu 36 2 121464516 121464516 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 121464516 121464516 G A SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.4556 p.G1519D 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors FAM171B 165215 genome.wustl.edu 36 2 187335599 187335599 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 187335599 187335599 A C SNP FAM171B NM_177454 human genbank 54_36p 1 validated missense c.2285 p.H762P 1 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors FAM171B 165215 genome.wustl.edu 36 2 187335610 187335610 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 187335610 187335610 G T SNP FAM171B NM_177454 human genbank 54_36p 1 validated nonsense c.2296 p.G766* 1 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors FAM171B 165215 genome.wustl.edu 36 2 187335673 187335673 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 187335673 187335673 G A SNP FAM171B NM_177454 human genbank 54_36p 1 validated missense c.2359 p.E787K 0.92 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors SON 6651 genome.wustl.edu 36 21 33848290 33848290 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 33848290 33848290 T A SNP SON NM_138927 human genbank 54_36p 1 reviewed missense c.4883 p.V1628D 1 NULL "HMMSmart_SM00443,HMMPfam_G-patch,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm" - no_errors SON 6651 genome.wustl.edu 36 21 33848752 33848752 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 33848752 33848752 C T SNP SON NM_138927 human genbank 54_36p 1 reviewed missense c.5345 p.S1782F 0.93 NULL "HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,superfamily_dsRNA-binding domain-like" - no_errors SON 6651 genome.wustl.edu 36 21 33854113 33854113 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21 33854113 33854113 T A SNP SON NM_032195 human genbank 54_36p 1 reviewed missense c.6718 p.L2240M 1 NULL NULL - no_errors LOC100130518 100130518 genome.wustl.edu 36 19 22291166 22291166 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 22291166 22291166 T C SNP LOC100130518 XM_001719773 human genbank 54_36p 1 model missense c.3224 p.M1075T 0 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors LOC100130518 100130518 genome.wustl.edu 36 19 22291441 22291441 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 22291441 22291441 G T SNP LOC100130518 XM_001719773 human genbank 54_36p 1 model missense c.3499 p.G1167W 1 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113392466 113392466 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113392466 113392466 C A SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.7802 p.R2601L 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113395848 113395848 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113395848 113395848 A T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.7535 p.L2512H 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113433840 113433840 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113433840 113433840 T C SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.6236 p.D2079G 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113574057 113574057 + Silent SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113574057 113574057 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated silent c.5115 p.G1705 0.9 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113632224 113632224 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113632224 113632224 C G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.4416 p.W1472C 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113655017 113655017 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113655017 113655017 T G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.3931 p.T1311P 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 genome.wustl.edu 36 8 113763936 113763936 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 8 113763936 113763936 C T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.2588 p.G863E 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors PRUNE2 158471 genome.wustl.edu 36 9 78512437 78512437 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 78512437 78512437 C G SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.3496 p.A1166P 0 NULL "superfamily_Ferritin-like,superfamily_CRAL/TRIO domain,HMMSmart_SM00516" - no_errors USH2A 7399 hgsc.bcm.edu 36 1 213968096 213968096 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 213968096 213968096 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.11965 p.E3989K 0.07 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 hgsc.bcm.edu 36 1 214030227 214030227 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 1 214030227 214030227 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.9979 p.D3327N 1 "HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 hgsc.bcm.edu 36 1 214078021 214078021 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 214078021 214078021 T A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.9306 p.Q3102H 1 superfamily_Fibronectin type III ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 hgsc.bcm.edu 36 1 214128690 214128690 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 214128690 214128690 T A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.7924 p.I2642L 0.97 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 hgsc.bcm.edu 36 1 214662006 214662006 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 1 214662006 214662006 G A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.296 p.A99V 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors FAM171B 165215 hgsc.bcm.edu 36 2 187334884 187334884 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 187334884 187334884 C A SNP FAM171B NM_177454 human genbank 54_36p 1 validated missense c.1570 p.R524S 0.38 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors FAM171B 165215 hgsc.bcm.edu 36 2 187335568 187335568 + Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 2 187335568 187335568 G A SNP FAM171B NM_177454 human genbank 54_36p 1 validated missense c.2254 p.V752I 0.95 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors CSMD3 114788 hgsc.bcm.edu 36 8 113335707 113335707 + Missense_Mutation SNP T T G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 T T T G T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 8 113335707 113335707 T G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.10061 p.N3354T 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10" - no_errors CSMD3 114788 hgsc.bcm.edu 36 8 113416804 113416804 + Silent SNP A A C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 113416804 113416804 A C SNP CSMD3 NM_198123 human genbank 54_36p -1 validated silent c.7095 p.T2365 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 hgsc.bcm.edu 36 8 113771362 113771362 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 8 113771362 113771362 T A SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.2066 p.E689V 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 hgsc.bcm.edu 36 8 114057410 114057410 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 8 114057410 114057410 C T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.1174 p.E392K 1 NULL "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors C9orf171 389799 hgsc.bcm.edu 36 9 134364658 134364658 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 9 134364658 134364658 G A SNP C9orf171 NM_207417 human genbank 54_36p 1 predicted missense c.482 p.R161H 0.83 NULL NULL - no_errors FAT3 120114 hgsc.bcm.edu 36 11 92232077 92232077 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 92232077 92232077 A G SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.11599 p.T3867A 1 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 hgsc.bcm.edu 36 11 92232098 92232098 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 11 92232098 92232098 A T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.11620 p.I3874L 1 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors RB1 5925 hgsc.bcm.edu 36 13 47849054 47849054 + Splice_Site SNP G G C novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 47849054 47849054 G C SNP RB1 NM_000321 human genbank 54_36p 1 reviewed splice_site c.1216-1 e13-1 1 - - - no_errors BRCA1 672 hgsc.bcm.edu 36 17 38451310 38451310 + Nonsense_Mutation SNP G G A rs41293465 Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 38451310 38451310 G A SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.5503 p.R1835* 0.99 "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" - no_errors BRCA1 672 hgsc.bcm.edu 36 17 38482030 38482030 + Splice_Site DEL C C - novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C - C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 38482030 38482030 C - DEL BRCA1 NM_007294 human genbank 54_36p -1 reviewed splice_site_del c.4484+1 e12+1 0.91 - - "(deletion:intron[38480065,38482030])" no_errors BRCA1 672 hgsc.bcm.edu 36 17 38497425 38497426 + Frame_Shift_Ins INS - - TAAGTTCT novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 - - . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 38497425 38497426 - TAAGTTCT INS BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_ins c.3649_3648 p.S1216fs 0.226:0.007 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors BRCA1 672 hgsc.bcm.edu 36 17 38498636 38498636 + Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 C C C - C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 38498636 38498636 C - DEL BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_del c.2438 p.G813fs 0 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" "(deletion:cds_exon[38496978,38500403])" no_errors BRCA1 672 hgsc.bcm.edu 36 17 38499517 38499517 + Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C C - C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 38499517 38499517 C - DEL BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_del c.1557 p.A521fs 1 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" "(deletion:cds_exon[38496978,38500403])" no_errors BRCA1 672 hgsc.bcm.edu 36 17 38509760 38509760 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 38509760 38509760 C A SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.346 p.E116* 0.99 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors NF1 4763 hgsc.bcm.edu 36 17 26678704 26678707 + Frame_Shift_Del DEL TCTT TCTT - novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 TCTT TCTT TCTT - TCTT TCTT Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 26678704 26678707 TCTT - DEL NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_del c.5330_5333 p.F1778fs 1.000:1.000:1.000:1.000 NULL "HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516" "(deletion:cds_exon[26678643,26678983])" no_errors TOP2A 7153 hgsc.bcm.edu 36 17 35821134 35821134 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 35821134 35821134 G C SNP TOP2A NM_001067 human genbank 54_36p -1 reviewed missense c.1063 p.Q355E 1 "HMMSmart_SM00433,HMMPfam_DNA_gyraseB,superfamily_Ribosomal protein S5 domain 2-like" ############################################################################################################################################################################################################################################################### - no_errors TOP2A 7153 hgsc.bcm.edu 36 17 35821465 35821465 + Silent SNP G G C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 35821465 35821465 G C SNP TOP2A NM_001067 human genbank 54_36p -1 reviewed silent c.921 p.G307 1 "HMMSmart_SM00433,HMMPfam_DNA_gyraseB,superfamily_Ribosomal protein S5 domain 2-like" ############################################################################################################################################################################################################################################################### - no_errors TP53 7157 hgsc.bcm.edu 36 17 7514743 7514743 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7514743 7514743 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.1009 p.R337C 0.47 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517577 7517577 + Splice_Site SNP C C A rs11575997 Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517577 7517577 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517577 7517577 + Splice_Site SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517577 7517577 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517652 7517652 + Splice_Site SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517652 7517652 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.920-1 e8-1 0.97 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517652 7517652 + Splice_Site SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C T T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517652 7517652 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.920-1 e8-1 0.97 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517783 7517783 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517783 7517783 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.880 p.E294* 0.01 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517818 7517819 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 - - - G - - Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517818 7517819 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.845_844 p.R282fs 0.996:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517821 7517821 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517821 7517821 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.842 p.D281G 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518231 7518231 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518231 7518231 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.775 p.D259Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518231 7518231 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518231 7518231 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.775 p.D259Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518257 7518257 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518257 7518257 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.749 p.P250L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 byHapMap TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518263 7518264 + Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 - - - G - - Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518263 7518264 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.743_742 p.R248fs 1.000:1.000 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518264 7518264 + Missense_Mutation SNP G C C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G C C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518264 7518264 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248G 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518273 7518273 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518276 7518276 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518276 7518276 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518284 7518284 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241Y 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518291 7518292 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 - - - A - - Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518291 7518292 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.715_714 p.N238fs 1.000:0.999 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518299 7518299 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518299 7518299 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.707 p.Y236C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518319 7518320 + Frame_Shift_Del DEL AC AC - novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 AC AC AC - AC AC Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518319 7518320 AC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.687_686 p.C229fs 0.995:0.995 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 7157 hgsc.bcm.edu 36 17 7518901 7518901 + Splice_Site SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518901 7518901 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.672+1 e5+1 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518928 7518928 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7518928 7518928 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.646 p.V216M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518996 7518996 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518996 7518996 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519015 7519015 + Splice_Site SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519015 7519015 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.38 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519118 7519118 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A C C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519118 7519118 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.537 p.H179Q 0.89 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519119 7519119 + Missense_Mutation SNP T C C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519123 7519123 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G - G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519123 7519123 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.532 p.H178fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519138 7519138 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7519138 7519138 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.517 p.V173L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519179 7519179 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519179 7519179 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.476 p.A159V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C A A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519252 7519252 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519252 7519252 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.403 p.C135R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519255 7519255 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A C C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519255 7519255 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.400 p.F134V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519260 7519260 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519260 7519260 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519275 7519275 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519275 7519275 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.380 p.S127F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519280 7519280 + Splice_Site SNP C C A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519280 7519280 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519280 7519280 + Splice_Site SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519280 7519280 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519280 7519280 + Splice_Site SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C T T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519280 7519280 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519281 7519281 + Splice_Site SNP T C C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519281 7519281 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-2 e4-2 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7519281 7519281 + Splice_Site SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T C C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519281 7519281 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-2 e4-2 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520036 7520036 + Splice_Site SNP C C A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520036 7520036 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.375+1 e3+1 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520042 7520042 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A - A A Unknown Valid Somatic Phase_IV Capture SOLID SOLID 17 7520042 7520042 A - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.370 p.C124fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 hgsc.bcm.edu 36 17 7520086 7520086 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A C C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520086 7520086 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.326 p.F109C 0.36 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520087 7520088 + Frame_Shift_Ins INS - - ACCGT novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 - - - ACCGT - - Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7520087 7520088 - ACCGT INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.325_324 p.F108fs 0.330:0.183 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520099 7520099 + Missense_Mutation SNP C T T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7520099 7520099 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.313 p.G105S 0.73 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520219 7520219 + Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 T T A A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520219 7520219 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.193 p.R65* 0 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520254 7520254 + Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520254 7520254 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.158 p.W53* 0.01 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520261 7520261 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520261 7520261 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.151 p.E51* 0 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors NBPF8 728841 broad.mit.edu 36 1 144073456 144073457 + Intron INS - C - novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 144073456 144073457 - C INS NBPF8 ENST00000369339 human ensembl 54_36p 1 known intronic c.1670-5615_1670-5614 e14-5614 0.006:0.005 - - - no_errors USH2A 7399 broad.mit.edu 36 1 213874577 213874577 + Silent SNP C C T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 213874577 213874577 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed silent c.15144 p.A5048 0 NULL ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 213914970 213914970 + Silent SNP C C T novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 213914970 213914970 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed silent c.12906 p.R4302 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 213915145 213915145 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 T T T C T T Unknown Valid Somatic Phase_I Capture 454_PCR_WGA Illumina GAIIx 1 213915145 213915145 T C SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.12731 p.N4244S 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 213998688 213998688 + Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 213998688 213998688 C G SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.11261 p.G3754A 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 214118802 214118802 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 214118802 214118802 C A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.8485 p.V2829L 0.56 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 214128935 214128935 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 214128935 214128935 T C SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.7679 p.N2560S 1 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 214323453 214323453 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 214323453 214323453 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.5266 p.V1756I 0.73 "HMMSmart_SM00282,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 214447291 214447291 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 214447291 214447291 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.3263 p.S1088N 0.24 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 214564266 214564266 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 214564266 214564266 T A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.1195 p.I399F 1 "HMMPfam_Laminin_N,HMMSmart_SM00136" ############################################################################################################################################################################################################################################################### - no_errors USH2A 7399 broad.mit.edu 36 1 214661887 214661887 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 214661887 214661887 G T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.415 p.P139T 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors GLI2 2736 broad.mit.edu 36 2 121425309 121425309 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 121425309 121425309 G A SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.275 p.S92N 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GLI2 2736 broad.mit.edu 36 2 121444566 121444566 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 121444566 121444566 G T SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.973 p.A325S 0.51 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors GLI2 2736 broad.mit.edu 36 2 121452516 121452516 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 121452516 121452516 G C SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.1405 p.E469Q 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors GLI2 2736 broad.mit.edu 36 2 121464405 121464405 + Missense_Mutation SNP G G T novel Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 121464405 121464405 G T SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.4445 p.S1482I 0.75 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors FAM171B 165215 broad.mit.edu 36 2 187324232 187324232 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture "Capture,Sequenom" Illumina GAIIx 2 187324232 187324232 G C SNP FAM171B NM_177454 human genbank 54_36p 1 validated missense c.851 p.S284T 0.01 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors TBP 6908 broad.mit.edu 36 6 170712963 170712965 + In_Frame_Del DEL CAA - - novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 CAA CAA - - CAA CAA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 6 170712963 170712965 CAA - DEL TBP NM_003194 human genbank 54_36p 1 reviewed in_frame_del c.214_216 p.Q75in_frame_del 0.822:0.830:0.838 NULL "HMMPfam_TBP,PatternScan_TFIID,superfamily_TFIID_C/glycos_N" "(deletion:cds_exon[170712804,170713246])" no_errors CSMD3 114788 broad.mit.edu 36 8 113346991 113346991 + Silent SNP G G T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 113346991 113346991 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated silent c.9513 p.I3171 1 superfamily_Complement control module/SCR domain "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10" - no_errors CSMD3 114788 broad.mit.edu 36 8 113373014 113373014 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 113373014 113373014 C A SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.8875 p.V2959L 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113383345 113383345 + Missense_Mutation SNP G G T novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 113383345 113383345 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.8293 p.P2765T 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113395965 113395965 + Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 113395965 113395965 C T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.7418 p.G2473E 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113427578 113427578 + Missense_Mutation SNP G G C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 113427578 113427578 G C SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.6366 p.I2122M 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113461831 113461831 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 8 113461831 113461831 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.6062 p.T2021K 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113472187 113472187 + Missense_Mutation SNP C C G novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C C G C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 8 113472187 113472187 C G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.5816 p.C1939S 1 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113488085 113488085 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 113488085 113488085 T A SNP CSMD3 NM_198123 human genbank 54_36p -1 validated nonsense c.5653 p.R1885* 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113638303 113638303 + Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 T T T A T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 8 113638303 113638303 T A SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.4099 p.S1367C 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 113731645 113731646 + Missense_Mutation DNP TG TG AT novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 TG TG TG AT TG TG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 8 113731645 113731646 TG AT DNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.3114_3113 p.S1038Y 0.970:1.000 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors CSMD3 114788 broad.mit.edu 36 8 114255270 114255270 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 114255270 114255270 A G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.566 p.L189S 1 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain" - no_errors PRUNE2 158471 broad.mit.edu 36 9 78460151 78460161 + Splice_Site DEL GCTCTCACCAG - GCTCTCACCAG novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 GCTCTCACCAG GCTCTCACCAG GCTCTCACCAG - GCTCTCACCAG GCTCTCACCAG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 9 78460151 78460161 GCTCTCACCAG - DEL PRUNE2 ENST00000376718 human ensembl 54_36p -1 known splice_site_del c.7279+4_7279+1 e4-1 0.000:0.030:0.201:0.980:0.997:0.997:1.000:1.000:1.000:0.997:1.000 - - "(deletion:intron[78457420,78460158], cds_exon[78460159,78460238])" no_errors PRUNE2 158471 broad.mit.edu 36 9 78510558 78510558 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 78510558 78510558 C T SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.5375 p.R1792Q 0 NULL "superfamily_Ferritin-like,superfamily_CRAL/TRIO domain,HMMSmart_SM00516" - no_errors PRUNE2 158471 broad.mit.edu 36 9 78511811 78511811 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 9 78511811 78511811 C G SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.4122 p.K1374N 0 NULL "HMMSmart_SM00516,superfamily_CRAL/TRIO domain,superfamily_Ferritin-like" - no_errors PRUNE2 158471 broad.mit.edu 36 9 78514606 78514606 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 78514606 78514606 C A SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.1327 p.A443S 0.96 NULL "HMMSmart_SM00516,superfamily_CRAL/TRIO domain,superfamily_Ferritin-like" - no_errors C9orf171 389799 broad.mit.edu 36 9 134408211 134408211 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 134408211 134408211 C A SNP C9orf171 NM_207417 human genbank 54_36p 1 predicted missense c.796 p.P266T 0.85 NULL NULL - no_errors PAOX 196743 broad.mit.edu 36 10 135043934 135043934 + Missense_Mutation SNP T T C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 10 135043934 135043934 T C SNP PAOX NM_152911 human genbank 54_36p 1 validated missense c.623 p.F208S 0.97 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" - no_errors FAT3 120114 broad.mit.edu 36 11 91726643 91726643 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 91726643 91726643 G A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.1717 p.D573N 1 "HMMSmart_SM00112,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 91727199 91727199 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 11 91727199 91727199 A G SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.2273 p.N758S 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 91727535 91727535 + Missense_Mutation SNP T T G novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 T T G G T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 11 91727535 91727535 T G SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.2609 p.V870G 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92070253 92070254 + Missense_Mutation DNP TC TC CA novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W TC TC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 11 92070253 92070254 TC CA DNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.3663_3664 p.L1222M 1.000:1.000 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92134759 92134759 + Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G G T G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 11 92134759 92134759 G T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.3759 p.Q1253H 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92134777 92134777 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 11 92134777 92134777 C A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated nonsense c.3777 p.Y1259* 1 "HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92171110 92171110 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 11 92171110 92171110 T A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.5283 p.D1761E 1 "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92174160 92174160 + Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C G G C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 11 92174160 92174160 C G SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.8333 p.A2778G 0.21 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92216961 92216961 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 11 92216961 92216961 A T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.10780 p.S3594C 1 "HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like" ############################################################################################################################################################################################################################################################### - no_errors FAT3 120114 broad.mit.edu 36 11 92239718 92239718 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 11 92239718 92239718 G A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.11822 p.R3941H 1 "HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" ############################################################################################################################################################################################################################################################### - no_errors RASAL1 8437 broad.mit.edu 36 12 112026390 112026390 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 112026390 112026390 C T SNP RASAL1 NM_004658 human genbank 54_36p -1 reviewed missense c.1924 p.D642N 0.86 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" ############################################################################################################################################################################################################################################################### - no_errors RASAL1 8437 broad.mit.edu 36 12 112050340 112050340 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 112050340 112050340 C A SNP RASAL1 NM_004658 human genbank 54_36p -1 reviewed missense c.149 p.G50V 1 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" ############################################################################################################################################################################################################################################################### - no_errors RASAL1 8437 broad.mit.edu 36 12 112053104 112053104 + Silent SNP G G A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 112053104 112053104 G A SNP RASAL1 NM_004658 human genbank 54_36p -1 reviewed silent c.91 p.L31 0.99 "HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" ############################################################################################################################################################################################################################################################### - no_errors RB1 5925 broad.mit.edu 36 13 47839649 47839649 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 13 47839649 47839649 C T SNP RB1 NM_000321 human genbank 54_36p 1 reviewed nonsense c.958 p.R320* 1 NULL "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C" - no_errors TP53 7157 broad.mit.edu 36 17 7514709 7514710 + Frame_Shift_Ins INS - - AGGCCTT novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D - - AGGCCTT AGGCCTT - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7514709 7514710 - AGGCCTT INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.1043_1042 p.L348fs 0.992:0.323 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 7157 broad.mit.edu 36 17 7514720 7514720 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7514720 7514720 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1032 p.N345fs 0.72 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 7157 broad.mit.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 7157 broad.mit.edu 36 17 7517577 7517577 + Splice_Site SNP C C T rs11575997 Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517577 7517577 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 7157 broad.mit.edu 36 17 7517577 7517577 + Splice_Site SNP C C A rs11575997 Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517577 7517577 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 7157 broad.mit.edu 36 17 7517610 7517610 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517610 7517610 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.961 p.K321* 0.98 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517622 7517622 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 7517622 7517622 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.949 p.Q317* 0.55 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517625 7517626 + Frame_Shift_Ins INS - A A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517625 7517626 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.946_945 p.P315fs 0.962:0.964 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517744 7517745 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 CT CT CT - CT CT Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7517744 7517745 CT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.919_918 p.A307fs 0.998:0.997 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517747 7517747 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.916 p.R306* 1 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517807 7517807 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Broad454,Capture" Illumina GAIIx 17 7517807 7517807 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.856 p.E286K 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517813 7517813 + Frame_Shift_Del DEL T - T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517813 7517813 T - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.850 p.T284fs 0.04 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 7157 broad.mit.edu 36 17 7517827 7517827 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517827 7517827 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.836 p.G279E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517830 7517830 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture "Broad454,Capture" Illumina GAIIx 17 7517830 7517830 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517842 7517842 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274G 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C A rs28934576 Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C G rs28934576 Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517845 7517845 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273P 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517852 7517852 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517852 7517852 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.811 p.E271* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517866 7517866 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517866 7517866 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.797 p.G266V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517866 7517866 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517866 7517866 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.797 p.G266V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517867 7517867 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517867 7517867 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.796 p.G266R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7517871 7517881 + Splice_Site DEL TAGATTACCAC TAGATTACCAC - novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W TAGATTACCAC TAGATTACCAC - - TAGATTACCAC TAGATTACCAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517871 7517881 TAGATTACCAC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.792_783 p.G262fs 0.348:0.418:0.272:0.006:0.011:0.018:0.004:0.996:1.000:0.996 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880], intron[7517881,7518223])" no_errors TP53 7157 broad.mit.edu 36 17 7517878 7517878 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517878 7517878 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.785 p.G262V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518223 7518223 + Splice_Site SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518223 7518223 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.782+1 e6+1 1 - - - no_errors TP53 7157 broad.mit.edu 36 17 7518236 7518236 + Missense_Mutation SNP A A T rs28934577 Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518236 7518236 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.770 p.L257Q 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518239 7518241 + In_Frame_Del DEL GTG - GTG novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 GTG GTG - - GTG GTG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518239 7518241 GTG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.767_765 p.T256in_frame_del 1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 7157 broad.mit.edu 36 17 7518239 7518247 + In_Frame_Del DEL GTGATGATG GTGATGATG - novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W GTGATGATG GTGATGATG - - GTGATGATG GTGATGATG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518239 7518247 GTGATGATG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.767_759 p.IIT254in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 7157 broad.mit.edu 36 17 7518254 7518254 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518254 7518254 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.752 p.I251S 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518257 7518257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518257 7518257 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.749 p.P250L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518261 7518261 + Missense_Mutation SNP T T C rs67185453 Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518261 7518261 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.745 p.R249G 0.99 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C G rs28934575 Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518273 7518273 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245R 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518275 7518275 + Missense_Mutation SNP C C T rs28934572 Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518275 7518275 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.731 p.G244D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518276 7518276 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518276 7518276 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518288 7518296 + In_Frame_Del DEL TGTTACACA TGTTACACA - novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 TGTTACACA TGTTACACA TGTTACACA - TGTTACACA TGTTACACA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518288 7518296 TGTTACACA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.718_710 p.MCN237in_frame_del 1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 7157 broad.mit.edu 36 17 7518291 7518292 + Frame_Shift_Ins INS - A - novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518291 7518292 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.715_714 p.N238fs 1.000:0.999 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518293 7518293 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518293 7518293 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.713 p.C238Y 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518293 7518293 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518293 7518293 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.713 p.C238F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518296 7518296 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518296 7518296 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.710 p.M237K 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518306 7518306 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518306 7518306 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.700 p.Y234N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518311 7518311 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518311 7518311 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.695 p.I232N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518901 7518901 + Splice_Site SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C C T C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518901 7518901 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.672+1 e5+1 1 - - - no_errors TP53 7157 broad.mit.edu 36 17 7518901 7518901 + Splice_Site SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518901 7518901 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.672+1 e5+1 1 - - - no_errors TP53 7157 broad.mit.edu 36 17 7518902 7518902 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Capture,Sanger_PCR_WGA" Illumina GAIIx 17 7518902 7518902 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed silent c.672 p.E224 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518904 7518905 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W CA CA - - CA CA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518904 7518905 CA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.670_669 p.E224fs 0.994:0.551 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 7157 broad.mit.edu 36 17 7518907 7518908 + Frame_Shift_Del DEL GC GC - novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 GC GC GC - GC GC Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518907 7518908 GC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.667_666 p.P223fs 0.989:0.734 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture "Broad454,Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518929 7518929 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518929 7518929 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.645 p.S215R 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518933 7518933 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518933 7518933 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.641 p.H214R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518951 7518951 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518951 7518951 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.623 p.D208V 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518964 7518964 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518964 7518964 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.610 p.E204* 0.4 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518964 7518964 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518964 7518964 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.610 p.E204* 0.4 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518988 7518988 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518988 7518988 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.586 p.R196* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518988 7518988 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518988 7518988 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.586 p.R196* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A A G A A Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518991 7518991 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518991 7518991 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.583 p.I195F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518991 7519015 + Splice_Site DEL TAAGATGCTGAGGAGGGGCCAGACC - TAAGATGCTGAGGAGGGGCCAGACC novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC - - TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518991 7519015 TAAGATGCTGAGGAGGGGCCAGACC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.583_560 p.G187fs 1.000:0.987:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998:0.999:0.987:0.923:0.995:0.997:0.888:0.996:0.996:0.816:0.467:0.381:0.265:0.331 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014], intron[7519015,7519095])" no_errors TP53 7157 broad.mit.edu 36 17 7518993 7518993 + Missense_Mutation SNP A A C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A A C A A Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518993 7518993 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.581 p.L194R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518993 7518993 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518993 7518993 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.581 p.L194R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519000 7519002 + In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W GAG GAG - - GAG GAG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7519000 7519002 GAG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.574_572 p.P191in_frame_del 1.000:0.998:0.999 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 7157 broad.mit.edu 36 17 7519000 7519002 + In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W GAG GAG GAG - GAG GAG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519000 7519002 GAG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.574_572 p.P191in_frame_del 1.000:0.998:0.999 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 7157 broad.mit.edu 36 17 7519015 7519015 + Splice_Site SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 7519015 7519015 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.38 - - - no_errors TP53 7157 broad.mit.edu 36 17 7519094 7519094 + Splice_Site SNP A A C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519094 7519094 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+2 e4+2 0.99 - - - no_errors TP53 7157 broad.mit.edu 36 17 7519095 7519095 + Splice_Site SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519095 7519095 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 1 - - - no_errors TP53 7157 broad.mit.edu 36 17 7519095 7519095 + Splice_Site SNP C C A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519095 7519095 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 1 - - - no_errors TP53 7157 broad.mit.edu 36 17 7519095 7519095 + Splice_Site SNP C C A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519095 7519095 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 1 - - - no_errors TP53 7157 broad.mit.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519167 7519167 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519167 7519167 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.488 p.Y163C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519167 7519167 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519167 7519167 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.488 p.Y163C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519168 7519168 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519168 7519168 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.487 p.Y163N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519168 7519168 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519168 7519168 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.487 p.Y163H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519221 7519221 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519221 7519221 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.434 p.L145R 0.98 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519221 7519221 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519221 7519221 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.434 p.L145Q 0.98 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519225 7519225 + Nonsense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519225 7519225 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.430 p.Q144* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519235 7519235 + Frame_Shift_Del DEL G - G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7519235 7519235 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.420 p.C141fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 7157 broad.mit.edu 36 17 7519230 7519244 + In_Frame_Del DEL GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC - novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC - - GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC Unknown Unknown Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519230 7519244 GGGCAGGTCTTGGCC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.425_411 p.AKTCP138in_frame_del 0.999:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:0.985 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 7157 broad.mit.edu 36 17 7519249 7519249 + Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519249 7519249 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.406 p.Q136* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519261 7519261 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519261 7519261 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.394 p.K132E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519266 7519267 + Frame_Shift_Ins INS - - GG novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W - - GG GG - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7519266 7519267 - GG INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.389_388 p.L130fs 0.974:0.951 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519267 7519267 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519267 7519267 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.388 p.L130V 0.95 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519275 7519275 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519275 7519275 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.380 p.S127Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7520040 7520040 + Frame_Shift_Del DEL G - G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520040 7520040 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.372 p.C124fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 broad.mit.edu 36 17 7520060 7520061 + Frame_Shift_Ins INS - C - novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 - - C C - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520060 7520061 - C INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.352_351 p.T117fs 1.000:0.979 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7520087 7520121 + Frame_Shift_Del DEL AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7520087 7520121 AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.325_291 p.Q100fs 0.330:0.183:0.165:0.162:0.166:0.178:0.151:0.019:0.003:0.025:0.345:0.734:0.731:0.078:0.860:0.941:0.999:0.999:0.993:0.668:0.645:0.642:0.600:0.610:0.602:0.560:0.575:0.595:0.590:0.909:0.938:0.944:1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 broad.mit.edu 36 17 7520099 7520099 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7520099 7520099 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.313 p.G105R 0.73 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7520099 7520099 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7520099 7520099 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.313 p.G105C 0.73 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7520148 7520157 + Frame_Shift_Del DEL GGCTGGTGCA - - novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 GGCTGGTGCA GGCTGGTGCA - - GGCTGGTGCA GGCTGGTGCA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520148 7520157 GGCTGGTGCA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.264_255 p.A86fs 1.000:1.000:1.000:1.000:1.000:0.984:0.662:0.689:0.520:0.508 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 broad.mit.edu 36 17 7520187 7520187 + Frame_Shift_Del DEL A - - novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520187 7520187 A - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.225 p.A76fs 0.05 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 broad.mit.edu 36 17 7520260 7520261 + Frame_Shift_Ins INS - - C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 - - - C - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520260 7520261 - C INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.152_151 p.E51fs 0.000:0.000 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7520272 7520272 + Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520272 7520272 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.140 p.P47fs 0 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 broad.mit.edu 36 17 7520281 7520285 + Frame_Shift_Del DEL ATCAA - ATCAA novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D ATCAA ATCAA - - ATCAA ATCAA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520281 7520285 ATCAA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.131_127 p.L43fs 0.067:0.089:0.152:0.176:0.168 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors NF1 4763 broad.mit.edu 36 17 26514375 26514375 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 26514375 26514375 C T SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed nonsense c.334 p.Q112* 1 NULL "HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516" - no_errors NF1 4763 broad.mit.edu 36 17 26533651 26533651 + Splice_Site SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26533651 26533651 G T SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed splice_site c.731-1 e8-1 1 - - - no_errors NF1 4763 broad.mit.edu 36 17 26573001 26573001 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26573001 26573001 T C SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed missense c.1649 p.L550P 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 4763 broad.mit.edu 36 17 26609644 26609644 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26609644 26609644 A G SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed missense c.4330 p.K1444E 1 "HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP" "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 4763 broad.mit.edu 36 17 26678731 26678731 + Nonsense_Mutation SNP C C A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 26678731 26678731 C A SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed nonsense c.5357 p.S1786* 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 4763 broad.mit.edu 36 17 26678946 26678946 + Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26678946 26678946 G A SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed missense c.5572 p.A1858T 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 4763 broad.mit.edu 36 17 26678962 26678962 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 26678962 26678962 G C SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed missense c.5588 p.G1863A 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 4763 broad.mit.edu 36 17 26688724 26688724 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26688724 26688724 G T SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed nonsense c.6640 p.E2214* 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors CDK12 51755 broad.mit.edu 36 17 34881415 34881415 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 34881415 34881415 C T SNP CRKRS NM_016507 human genbank 54_36p 1 validated nonsense c.1804 p.Q602* 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CDK12 51755 broad.mit.edu 36 17 34902577 34902577 + Nonsense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 34902577 34902577 G A SNP CRKRS NM_016507 human genbank 54_36p 1 validated nonsense c.2156 p.W719* 1 superfamily_Protein kinase-like (PK-like) "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CDK12 51755 broad.mit.edu 36 17 34919519 34919519 + Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 34919519 34919519 G T SNP CRKRS NM_016507 human genbank 54_36p 1 validated missense c.2645 p.R882L 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CDK12 51755 broad.mit.edu 36 17 34925519 34925520 + Frame_Shift_Ins INS - G - novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W - - G G - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 34925519 34925520 - G INS CRKRS NM_016507 human genbank 54_36p 1 validated frame_shift_ins c.2778_2779 p.E927fs 0.996:1.000 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CDK12 51755 broad.mit.edu 36 17 34927295 34927295 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 34927295 34927295 A G SNP CRKRS NM_016507 human genbank 54_36p 1 validated missense c.2923 p.K975E 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CDK12 51755 broad.mit.edu 36 17 34929759 34929759 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 34929759 34929759 A T SNP CRKRS NM_016507 human genbank 54_36p 1 validated missense c.2988 p.L996F 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CDK12 51755 broad.mit.edu 36 17 34929807 34929815 + In_Frame_Del DEL ACAGACCCT - ACAGACCCT novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D ACAGACCCT ACAGACCCT - - ACAGACCCT ACAGACCCT Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 34929807 34929815 ACAGACCCT - DEL CRKRS NM_016507 human genbank 54_36p 1 validated in_frame_del c.3036_3044 p.TLQ1014in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:0.985:1.000:1.000 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "(deletion:cds_exon[34929735,34929866])" no_errors TOP2A 7153 broad.mit.edu 36 17 35799793 35799793 + Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 35799793 35799793 C A SNP TOP2A NM_001067 human genbank 54_36p -1 reviewed missense c.4417 p.D1473Y 1 HMMPfam_DTHCT ############################################################################################################################################################################################################################################################### - no_errors TOP2A 7153 broad.mit.edu 36 17 35808375 35808375 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Broad454,Capture" Illumina GAIIx 17 35808375 35808375 C A SNP TOP2A NM_001067 human genbank 54_36p -1 reviewed missense c.3498 p.L1166F 1 "HMMPfam_DNA_topoisoIV,HMMSmart_SM00434,superfamily_Type II DNA topoisomerase" ############################################################################################################################################################################################################################################################### - no_errors BRCA1 672 broad.mit.edu 36 17 38469440 38469440 + Frame_Shift_Del DEL C - C novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 38469440 38469440 C - DEL BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_del c.5129 p.G1710fs 1 "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" "(deletion:cds_exon[38469417,38469494])" no_errors BRCA1 672 broad.mit.edu 36 17 38479937 38479937 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38479937 38479937 G A SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.4612 p.Q1538* 0 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" - no_errors BRCA1 672 broad.mit.edu 36 17 38499782 38499782 + Nonsense_Mutation SNP A A C novel Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 38499782 38499782 A C SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.1292 p.L431* 0.06 NULL "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors SON 6651 broad.mit.edu 36 21 33847128 33847128 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 21 33847128 33847128 G A SNP SON NM_138927 human genbank 54_36p 1 reviewed missense c.3721 p.V1241I 0.93 NULL "HMMSmart_SM00443,HMMPfam_G-patch,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm" - no_errors TP53 7157 broad.mit.edu 36 17 7517625 7517626 + Frame_Shift_Del DEL GA - - novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 GA GA GA - GA GA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7517625 7517626 GA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.946_945 p.Q317fs 0.962:0.964 NULL "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "(deletion:cds_exon[7517578,7517651])" no_errors TP53 7157 broad.mit.edu 36 17 7517800 7517801 + Frame_Shift_Ins INS - T T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W - - - T - - Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7517800 7517801 - T INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.863_862 p.N288fs 0.940:0.933 HMMPfam_P53 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518335 7518335 + Splice_Site SNP T C C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518335 7518335 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.673-2 e6-2 0.99 - - - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518937 7518937 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518937 7518937 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.637 p.R213* 0.38 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7518982 7518982 + Nonsense_Mutation SNP C A A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518982 7518982 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.592 p.E198* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G A A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G A A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7519193 7519194 + In_Frame_Ins INS - CCGGGCGGGGGTGTGGAATCAGTG CCGGGCGGGGGTGTGGAATCAGTG novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture Illumina GAIIx 17 7519193 7519194 - CCGGGCGGGGGTGTGGAATCAGTG INS TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_ins c.462_461 p.156in_frame_insDSTPPPGT 0.001:0.496 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 broad.mit.edu 36 17 7520032 7520032 + Splice_Region SNP C A A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7520032 7520032 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_region c.375+5 e3+5 1 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7517815 7517816 + Frame_Shift_Ins INS - A A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 - - - A - - Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517815 7517816 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.848_847 p.R283fs 0.013:0.012 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7519195 7519207 + Frame_Shift_Del DEL CGGGCGGGGGTGT - - novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 CGGGCGGGGGTGT CGGGCGGGGGTGT CGGGCGGGGGTGT - CGGGCGGGGGTGT CGGGCGGGGGTGT Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519195 7519207 CGGGCGGGGGTGT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.460_448 p.T150fs 0.496:0.001:0.001:0.001:0.001:0.996:0.998:0.906:0.998:0.997:0.001:0.001:0.001 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 7157 genome.wustl.edu 36 17 7520032 7520032 + Splice_Region SNP C G G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520032 7520032 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_region c.375+5 e3+5 1 - - - no_errors TP53 7157 hgsc.bcm.edu 36 17 7514743 7514743 + Frame_Shift_Del DEL G - - novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G - G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7514743 7514743 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1009 p.R337fs 0.47 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7518270 7518275 + In_Frame_Del DEL TGCCGC - - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 TGCCGC TGCCGC TGCCGC - TGCCGC TGCCGC Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7518270 7518275 TGCCGC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.736_731 p.GGM244in_frame_delV 1.000:1.000:1.000:0.996:0.171:0.996 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 7157 hgsc.bcm.edu 36 17 7520083 7520083 + Missense_Mutation SNP C A A rs11540654 byCluster;byHapMap TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520083 7520083 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.329 p.R110L 0.02 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 hgsc.bcm.edu 36 17 7520201 7520202 + Frame_Shift_Del DEL GA - - novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 GA GA - - GA GA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520201 7520202 GA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.211_210 p.P72fs 0.662:0.662 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 hgsc.bcm.edu 36 17 7520294 7520306 + Frame_Shift_Del DEL TTGCTTGGGACGG - - novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 TTGCTTGGGACGG TTGCTTGGGACGG TTGCTTGGGACGG - TTGCTTGGGACGG TTGCTTGGGACGG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520294 7520306 TTGCTTGGGACGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.118_106 p.P36fs 0.000:0.000:0.001:0.000:0.000:0.001:0.001:0.002:0.000:0.000:0.000:0.000:0.000 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 7157 genome.wustl.edu 36 17 7520228 7520228 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C T T C C Unknown Unknown Somatic Phase_I Capture 1 dbGAP Illumina GAIIx 17 7520228 7520228 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.184 p.E62K 0.02 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7520215 7520216 + Frame_Shift_Ins INS - ATTCTGGG ATTCTGGG novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 - - ATTCTGGG ATTCTGGG - - Unknown Unknown Somatic Phase_I Capture 1 dbGAP Illumina GAIIx 17 7520215 7520216 - ATTCTGGG INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.197_196 p.M66fs 0.005:0.007 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 7157 genome.wustl.edu 36 17 7518315 7518346 + Splice_Site DEL TGGTACAGTCAGAGCCAACCTAGGAGATAACA G G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 TGGTACAGTCAGAGCCAACCTAGGAGATAACA TGGTACAGTCAGAGCCAACCTAGGAGATAACA Unknown Unknown Somatic Phase_I Capture 1 dbGAP Illumina GAIIx 17 7518315 7518346 TGGTACAGTCAGAGCCAACCTAGGAGATAAC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.691_673 p.VGSDCTTIHY225in_frame_delPSTT 1.000:1.000:1.000:1.000:0.995:0.995:0.997:0.984:1.000:0.998:0.801:0.967:0.950:0.950:0.983:0.982:0.590:0.784:0.836 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333], intron[7518334,7518901])" no_errors