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 Tumor_Sample_UUID Matched_Norm_Sample_UUID 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 144273633 144273633 A T SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.1964 p.E655V 0.51 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 151584401 151584401 G A SNP PGLYRP4 NM_020393 human genbank 54_36p -1 validated missense c.221 p.T74M NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 154799639 154799639 G A SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.709 p.L237 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 167963921 167963921 C A SNP SELE NM_000450 human genbank 54_36p -1 reviewed missense c.1181 p.C394F 1 HMMPfam_Sushi HMMPfam_Sushi;HMMPfam_Lectin_C;HMMPfam_EGF - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 201939470 201939470 G C SNP ATP2B4 NM_001684 human genbank 54_36p 1 reviewed missense c.1005 p.E335D 1 HMMPfam_E1-E2_ATPase HMMPfam_Cation_ATPase_N;HMMPfam_Hydrolase;HMMPfam_Cation_ATPase_C;HMMPfam_E1-E2_ATPase;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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 209044047 209044047 A G SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1547 p.L516P 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 229474686 229474686 G T SNP GNPAT NM_014236 human genbank 54_36p 1 reviewed missense c.1528 p.V510F 0.998 NULL HMMPfam_Acyltransferase,superfamily_Glycerol-3-phosphate (1)-acyltransferase - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 234972931 234972931 G T SNP ACTN2 NM_001103 human genbank 54_36p 1 reviewed missense c.1220 p.R407M 0.78 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 23838327 23838327 A G SNP MDS2 ENST00000374555 human ensembl 54_36p 1 known missense c.145 p.S49G NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 246752148 246752148 C T SNP OR2G6 NM_001013355 human genbank 54_36p 1 validated missense c.578 p.T193I NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 32029433 32029433 C T SNP SPOCD1 ENST00000294514 human ensembl 54_36p -1 known missense c.863 p.R288K 0.86 NULL - - no_start_codon 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 67131676 67131676 G T SNP WDR78 NM_024763 human genbank 54_36p -1 validated missense c.354 p.D118E 0.008 NULL - - no_errors 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 1 69916717 69916717 G T SNP LRRC7 ENST00000370958 human ensembl 54_36p 1 known missense c.68 p.R23L 0.99 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 10 111620629 111620629 G C SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional missense c.1417 p.R473G 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 10 116879136 116879136 T C SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated silent c.678 p.S226 0.1 NULL HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_Lectin_C;HMMPfam_Laminin_EGF;HMMPfam_PSI;HMMPfam_EGF;HMMPfam_Kelch_1;superfamily_Galactose oxidase central domain;HMMPfam_Kelch_2;HMMPfam_EGF_2;superfamily_Plexin repeat;superfamily_C-type lectin-like;superfamily_EGF/Laminin - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 10 123832305 123832305 G A SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed silent c.300 p.P100 NULL HMMPfam_TACC - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 10 71968077 71968077 G T SNP KIAA1274 NM_014431 human genbank 54_36p 1 validated missense c.1359 p.W453C 1 NULL superfamily_(Phosphotyrosine protein) phosphatases II - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 105434873 105434873 G T SNP KBTBD3 NM_152433 human genbank 54_36p -1 validated missense c.162 p.F54L 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 112583779 112583779 T C SNP NCAM1 ENST00000404693 human ensembl 54_36p 1 known missense c.407 p.I136T 0.97 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 18693664 18693664 C G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated missense c.1422 p.E474D 0.99 HMMPfam_I-set HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 26651643 26651643 C T SNP SLC5A12 NM_178498 human genbank 54_36p -1 validated missense c.1589 p.R530K 0 NULL - - no_errors 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 49960414 49960414 A G SNP OR4C12 NM_001005270 human genbank 54_36p -1 provisional missense c.200 p.I67T 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 6772872 6772872 G T SNP OR6A2 NM_003696 human genbank 54_36p -1 provisional missense c.644 p.P215Q 0.27 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 11 72686049 72686049 G T SNP P2RY6 NM_004154 human genbank 54_36p 1 reviewed missense c.838 p.A280S 0.881 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 104985028 104985028 G C SNP NUAK1 NM_014840 human genbank 54_36p -1 validated silent c.1668 p.V556 0.05 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 120362202 120362202 C A SNP FBXL10 NM_032590 human genbank 54_36p -1 reviewed missense c.3670 p.D1224Y 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 131883237 131883237 C G SNP GOLGA3 NM_005895 human genbank 54_36p -1 reviewed missense c.2061 p.M687I 1 NULL superfamily_Prefoldin;superfamily_HLH helix-loop-helix DNA-binding domain;superfamily_Spectrin repeat - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 15727127 15727127 G T SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.26 p.P9H 1 NULL HMMPfam_SH3_1;superfamily_SH3-domain;superfamily_SAM/Pointed domain;HMMPfam_PTB;superfamily_PH domain-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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;superfamily_Tetraspanin - no_errors 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 51487226 51487226 C A SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed missense c.1679 p.S560I 0.95 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 54781659 54781659 T A SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed missense c.3582 p.D1194E 1 NULL superfamily_Growth factor receptor domain;superfamily_Protein kinase-like (PK-like);superfamily_L domain-like;Recep_L_domain;HMMPfam_Recep_L_domain;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;Furin-like;HMMPfam_Furin-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 12 6957772 6957772 C G SNP LPCAT3 NM_005768 human genbank 54_36p -1 validated missense c.1032 p.W344C 1 NULL HMMPfam_MBOAT - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 13 100512349 100512349 A G SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4727 p.L1576P 1 NULL HMMPfam_Ion_trans;superfamily_Voltage-gated potassium channels - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 13 18650417 18650417 A G SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.344 p.V115A 1 HMMPfam_Tubulin HMMPfam_Tubulin;HMMPfam_Tubulin_C;superfamily_Tubulin nucleotide-binding domain-like;superfamily_Tubulin C-terminal domain-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 13 51491273 51491273 C G SNP ALG11 NM_001004127 human genbank 54_36p 1 provisional missense c.268 p.Q90E 1 NULL HMMPfam_Glycos_transf_1;superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 14 23732000 23732000 G A SNP TM9SF1 NM_006405 human genbank 54_36p -1 validated missense c.661 p.R221C 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 14 37794218 37794218 C A SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.761 p.G254V 0.01 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 14 87952878 87952878 T G SNP SPATA7 NM_018418 human genbank 54_36p 1 validated silent c.309 p.T103 0.15 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 15 27799406 27799406 T A SNP TJP1 NM_003257 human genbank 54_36p -1 validated missense c.2870 p.E957V 1 NULL HMMPfam_ZU5;superfamily_SH3-domain;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_Guanylate_kin;HMMPfam_SH3_2;superfamily_P-loop containing nucleoside triphosphate hydrolases - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 15 39657412 39657412 C G SNP TYRO3 NM_006293 human genbank 54_36p 1 provisional silent c.2319 p.P773 1 HMMPfam_Pkinase_Tyr HMMPfam_Pkinase_Tyr;HMMPfam_fn3;superfamily_Fibronectin type III;superfamily_Protein kinase-like (PK-like);HMMPfam_ig;superfamily_Immunoglobulin - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 15 60331396 60331396 A C SNP FLJ38723 XR_041381 human genbank 54_36p -1 model rna NULL NULL 1 - - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 16 29302839 29302839 G A SNP LOC728888 XR_015889 human genbank 54_36p -1 model rna NULL NULL 0 - - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 16 30639033 30639033 C T SNP SRCAP NM_006662 human genbank 54_36p 1 validated missense c.2867 p.S956F 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 16 66203446 66203446 G C SNP CTCF NM_006565 human genbank 54_36p 1 reviewed missense c.873 p.E291D 1 NULL HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 10297840 10297840 T G SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.2779 p.T927P 0.96 NULL HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Myosin_tail_1;HMMPfam_Myosin_N;superfamily_Prefoldin;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 10381793 10381793 G T SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.1501 p.Q501K 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 19508856 19508856 A G SNP ALDH3A2 NM_001031806 human genbank 54_36p 1 reviewed missense c.1111 p.I371V 1 HMMPfam_Aldedh HMMPfam_Aldedh;superfamily_ALDH-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 25536462 25536462 G A SNP CCDC55 NM_032141 human genbank 54_36p 1 validated missense c.1321 p.E441K 0.02 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 26228597 26228597 G C SNP ATAD5 NM_024857 human genbank 54_36p 1 provisional missense c.3822 p.Q1274H 0.16 NULL HMMPfam_AAA;superfamily_P-loop containing nucleoside triphosphate hydrolases - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 NULL - (deletion:cds_exon[28372350;28372441]) 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 37323524 37323524 C G SNP ACLY NM_001096 human genbank 54_36p -1 reviewed missense c.129 p.L43F 0.99 NULL HMMPfam_CoA_binding;HMMPfam_Ligase_CoA;superfamily_Citrate synthase;superfamily_NAD(P)-binding Rossmann-fold domains;superfamily_Succinyl-CoA synthetase domains;superfamily_Glutathione synthetase ATP-binding domain-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 65639961 65639961 C T SNP KCNJ16 NM_018658 human genbank 54_36p 1 reviewed silent c.138 p.Y46 1 HMMPfam_IRK HMMPfam_IRK;superfamily_E set domains;superfamily_Voltage-gated potassium channels - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 70455145 70455145 C T SNP OTOP3 NM_178233 human genbank 54_36p 1 provisional missense c.1600 p.L534F 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 74008900 74008900 C A SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.5429 p.G1810V 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD (deletion:cds_exon[7514652;7514758]) 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 17 77739575 77739575 C G SNP CCDC57 NM_198082 human genbank 54_36p -1 validated missense c.861 p.E287D 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 18 19375349 19375349 C A SNP NPC1 NM_000271 human genbank 54_36p -1 validated silent c.2292 p.A764 1 HMMPfam_Patched HMMPfam_Patched;superfamily_Multidrug efflux transporter AcrB transmembrane domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 18 19701848 19701848 G A SNP LAMA3 NM_198129 human genbank 54_36p 1 reviewed missense c.4736 p.R1579Q 0.9 HMMPfam_Laminin_B HMMPfam_Laminin_B;HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Galactose-binding domain-like;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_I;HMMPfam_Laminin_II;HMMPfam_Laminin_G_2;superfamily_Spectrin repeat;superfamily_EGF/Laminin - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 18 3092608 3092608 T G SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.3439 p.N1147H 0.6 NULL HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 18 7221563 7221563 G T SNP LRRC30 NM_001105581 human genbank 54_36p 1 provisional nonsense c.427 p.E143* 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 19 13280060 13280060 C A SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known missense c.1790 p.W597L 1 HMMPfam_Ion_trans HMMPfam_Ion_trans;HMMPfam_Ca_chan_IQ;superfamily_Voltage-gated potassium channels - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 19 14994816 14994816 G A SNP CCDC105 NM_173482 human genbank 54_36p 1 provisional missense c.1385 p.R462H 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 19 15621867 15621867 C T SNP CYP4F3 NM_000896 human genbank 54_36p 1 reviewed silent c.792 p.H264 1 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 19 44651750 44651750 C T SNP SUPT5H NM_003169 human genbank 54_36p 1 validated missense c.1246 p.R416W 1 NULL HMMPfam_Supt5,HMMPfam_KOW,superfamily_Translation proteins SH3-like domain,superfamily_N-utilization substance G protein NusG N-terminal domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 10502581 10502581 T C SNP ODC1 NM_002539 human genbank 54_36p -1 reviewed missense c.29 p.D10G 1 NULL HMMPfam_Orn_DAP_Arg_deC;HMMPfam_Orn_Arg_deC_N;superfamily_Alanine racemase C-terminal domain-like;superfamily_PLP-binding barrel - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 179309012 179309012 C A SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.10674 p.K3558N 0.99 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 21114419 21114419 A G SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.453 p.T151 0 HMMPfam_Vitellogenin_N HMMPfam_Vitellogenin_N,HMMPfam_DUF1081,HMMPfam_DUF1943 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 219608429 219608429 A T SNP CCDC108 NM_152389 human genbank 54_36p -1 provisional missense c.364 p.S122T NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 230619465 230619465 C A SNP SLC16A14 NM_152527 human genbank 54_36p -1 provisional silent c.621 p.A207 0.98 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 235615550 235615550 G A SNP SH3BP4 NM_014521 human genbank 54_36p 1 reviewed silent c.1398 p.V466 0.8 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 25316788 25316788 G A SNP DNMT3A NM_022552 human genbank 54_36p -1 reviewed missense c.2209 p.L737F 1 HMMPfam_DNA_methylase HMMPfam_PWWP;HMMPfam_DNA_methylase;superfamily_FYVE/PHD zinc finger;superfamily_S-adenosyl-L-methionine-dependent methyltransferases;superfamily_Tudor/PWWP/MBT - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 26543219 26543219 G A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.4367 p.S1456F 1 NULL HMMPfam_C2;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);HMMPfam_FerB;HMMPfam_FerI - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 28488703 28488703 G C SNP FOSL2 NM_005253 human genbank 54_36p 1 reviewed missense c.865 p.E289Q 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 37069439 37069439 G C SNP HEATR5B NM_019024 human genbank 54_36p -1 validated missense c.5765 p.P1922R 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 2 74448668 74448668 G C SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed missense c.1953 p.S651R 1 NULL HMMPfam_CAP_GLY;superfamily_Docking domain B of the erythromycin polyketide synthase (DEBS);superfamily_Spectrin repeat;superfamily_Cap-Gly domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 20 32793754 32793754 G A SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.3967 p.R1323W 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 20 41698011 41698011 C G SNP IFT52 NM_016004 human genbank 54_36p 1 validated missense c.955 p.P319A 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 20 42833460 42833460 G A SNP RIMS4 NM_182970 human genbank 54_36p -1 validated missense c.106 p.R36W 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 20 43746983 43746983 A G SNP WFDC10B NM_172131 human genbank 54_36p -1 reviewed missense c.170 p.I57T NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 20 806888 806888 C T SNP ANGPT4 NM_015985 human genbank 54_36p -1 reviewed missense c.1136 p.R379H 0.97 HMMPfam_Fibrinogen_C HMMPfam_Fibrinogen_C;superfamily_DnaK suppressor protein DksA alpha-hairpin domain;superfamily_Fibrinogen C-terminal domain-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 21 14792667 14792667 G A SNP SAMSN1 NM_022136 human genbank 54_36p -1 validated silent c.886 p.L296 1 HMMPfam_SAM_2 superfamily_SH3-domain;superfamily_SAM/Pointed domain;HMMPfam_SAM_2;HMMPfam_SH3_2 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 21 29280389 29280389 G A SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.287 p.T96I 1 NULL HMMPfam_zf-C3HC4;superfamily_ARM repeat;superfamily_RING/U-box - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 21 32979982 32979982 G C SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated silent c.1065 p.V355 1 NULL HMMPfam_Syja_N;HMMPfam_Exo_endo_phos;HMMPfam_DUF1866;superfamily_RNA-binding domain RBD;superfamily_DNase I-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 14 21160479 21160479 G A SNP uc001wbi.2 ENST00000390422 human ensembl 54_36p 1 known missense c.245 p.S82N NULL - - no_stop_codon:bad_bp_length_for_coding_region 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 22 25036763 25036763 C A SNP SEZ6L NM_021115 human genbank 54_36p 1 validated missense c.1642 p.Q548K 0.88 NULL HMMPfam_Sushi;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;superfamily_Complement control module/SCR domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 22 37294187 37294187 C T SNP DMC1 NM_007068 human genbank 54_36p -1 reviewed silent c.21 p.V7 0.53 NULL HMMPfam_HHH;superfamily_Rad51 N-terminal domain-like;HMMPfam_Rad51;superfamily_P-loop containing nucleoside triphosphate hydrolases - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 102049161 102049161 G T SNP ABI3BP NM_015429 human genbank 54_36p -1 validated missense c.1497 p.S499R 0.1 NULL HMMPfam_fn3;superfamily_Fibronectin type III - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 110509627 110509627 C T SNP DPPA2 NM_138815 human genbank 54_36p -1 provisional silent c.600 p.K200 0.01 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 123458629 123458629 G A SNP CASR NM_000388 human genbank 54_36p 1 reviewed missense c.197 p.R66H 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 150197238 150197238 A T SNP GYG1 NM_004130 human genbank 54_36p 1 provisional missense c.338 p.D113V 1 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 155629157 155629157 G T SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional silent c.942 p.I314 1 NULL - - no_errors ZDHHC19 131540 genome.wustl.edu 36 3 197422537 197422537 + Missense_Mutation SNP G G A 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 197422537 197422537 G A SNP ZDHHC19 NM_001039617 human genbank 54_36p -1 validated missense c.47 p.P16L 0 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 27191211 27191211 C A SNP NEK10 ENST00000396636 human ensembl 54_36p -1 known missense c.814 p.D272Y 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 4783381 4783381 A G SNP ITPR1 NM_001099952 human genbank 54_36p 1 validated silent c.5568 p.P1856 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 49129040 49129040 G A SNP USP19 NM_006677 human genbank 54_36p -1 provisional silent c.828 p.P276 0.78 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 3 99370996 99370996 C A SNP OR5H15 NM_001005515 human genbank 54_36p 1 provisional missense c.763 p.L255I NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 7 32844570 32844570 G A SNP LOC100133317 XR_039293 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 18 37469 37469 A C SNP uc010djz.1 ENST00000308911 human ensembl 54_36p -1 known missense c.1256 p.V419G 1 NULL HMMPfam_Tubulin;HMMPfam_Tubulin_C;superfamily_SSF52490;superfamily_SSF55307 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 4 104047236 104047236 C G SNP NHEDC1 NM_139173 human genbank 54_36p -1 reviewed missense c.1101 p.K367N 0.38 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 4 79570543 79570543 G A SNP FRAS1 ENST00000380674 human ensembl 54_36p 1 known silent c.4917 p.Q1639 0.35 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 4 8356898 8356898 T G SNP HTRA3 NM_053044 human genbank 54_36p 1 provisional silent c.1188 p.P396 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 5 149657080 149657080 C A SNP ARSI NM_001012301 human genbank 54_36p -1 validated missense c.1600 p.G534W 0.04 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 5 15981325 15981325 C T SNP FBXL7 NM_012304 human genbank 54_36p 1 reviewed missense c.454 p.R152W 1 HMMPfam_F-box HMMPfam_F-box;superfamily_RNI-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 5 79068119 79068119 C T SNP CMYA5 NM_153610 human genbank 54_36p 1 validated missense c.7775 p.T2592I NULL HMMPfam_SPRY;HMMPfam_fn3;superfamily_Fibronectin type III - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 117822073 117822073 G T SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.1109 p.S370Y 1 NULL Pkinase_Tyr;HMMPfam_Pkinase_Tyr;fn3;HMMPfam_fn3;Fibronectin type III;superfamily_Fibronectin type III;Protein kinase-like (PK-like);superfamily_Protein kinase-like (PK-like);YWTD domain;superfamily_YWTD domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 HMMPfam_FTHFS;HMMPfam_THF_DHG_CYH;HMMPfam_THF_DHG_CYH_C;superfamily_NAD(P)-binding Rossmann-fold domains;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Aminoacid dehydrogenase-like N-terminal domain (deletion:cds_exon[151399794;151399946]) 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 158922008 158922008 G T SNP TMEM181 NM_020823 human genbank 54_36p 1 validated missense c.572 p.S191I 0.93 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 159590077 159590077 G A SNP FNDC1 NM_032532 human genbank 54_36p 1 validated silent c.4707 p.T1569 0.17 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 24570966 24570966 T A SNP GPLD1 NM_001503 human genbank 54_36p -1 reviewed silent c.858 p.A286 NULL HMMPfam_FG-GAP;superfamily_Integrin alpha N-terminal domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 27968906 27968906 T C SNP HIST1H2AM NM_003514 human genbank 54_36p -1 reviewed missense c.1 p.M1V 0.99 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 30272432 30272432 C T SNP TRIM26 NM_003449 human genbank 54_36p -1 validated missense c.605 p.R202Q 0.92 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 6 80777897 80777897 C G SNP TTK NM_003318 human genbank 54_36p 1 provisional nonsense c.641 p.S214* 0.9 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like);superfamily_TPR-like - no_errors 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 7 109387396 109387396 C T SNP EIF3IP1 NR_003024 human genbank 54_36p -1 provisional rna NULL NULL 0.993 - - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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;superfamily_GTPase activation domain GAP;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);HMMPfam_SH3_2;superfamily_ARM repeat - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 7 142798707 142798707 G A SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed missense c.2896 p.R966C 1 HMMPfam_SAM_1 Ephrin_lbd,HMMPfam_Ephrin_lbd,Pkinase_Tyr,HMMPfam_Pkinase_Tyr,SAM_1,HMMPfam_SAM_1,fn3,HMMPfam_fn3 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 7 151491100 151491100 G C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.10495 p.Q3499E 0.02 NULL AT_hook;HMMPfam_AT_hook;HMG_box;HMMPfam_HMG_box;SET;HMMPfam_SET;PHD;HMMPfam_PHD;FYRN;HMMPfam_FYRN;FYRC;HMMPfam_FYRC - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 7 154010382 154010382 T A SNP DPP6 ENST00000406326 human ensembl 54_36p 1 known nonsense c.717 p.C239* 0 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 7 27153876 27153876 C T SNP HOXA6 NM_024014 human genbank 54_36p -1 reviewed silent c.18 p.V6 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 8 118253979 118253979 G C SNP SLC30A8 NM_173851 human genbank 54_36p 1 validated missense c.988 p.V330L 0.073 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 8 2802658 2802658 A T SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.9785 p.F3262Y 0.99 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 NULL - (deletion:cds_exon[81139268;81139383]) 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 9 101020710 101020710 T G SNP ALG2 NM_033087 human genbank 54_36p -1 reviewed missense c.578 p.H193P 0.99 NULL HMMPfam_Glycos_transf_1;superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 9 113529997 113529997 G A SNP C9orf84 NM_173521 human genbank 54_36p -1 validated missense c.1379 p.A460V NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 9 115009362 115009362 T C SNP FKBP15 NM_015258 human genbank 54_36p -1 validated missense c.205 p.M69V NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 9 132366225 132366225 A C SNP ASS1 NM_000050 human genbank 54_36p 1 reviewed missense c.1235 p.K412T 1 NULL HMMPfam_Arginosuc_synth;superfamily_Adenine nucleotide alpha hydrolases-like;superfamily_Argininosuccinate synthetase C-terminal domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 9 134267311 134267311 G C SNP TTF1 NM_007344 human genbank 54_36p -1 validated missense c.719 p.S240W NULL superfamily_Homeodomain-like;HMMPfam_Myb_DNA-binding - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 9 37877988 37877988 T A SNP MCART1 NM_033412 human genbank 54_36p -1 validated missense c.560 p.N187I 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 106727668 106727668 C G SNP FRMPD3 XM_042978 human genbank 54_36p 1 model missense c.2002 p.R668G 1 NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 107291514 107291514 C A SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed nonsense c.4327 p.G1443* 1 HMMPfam_Collagen HMMPfam_C4;HMMPfam_Collagen;superfamily_C-type lectin-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 110382275 110382275 A T SNP CAPN6 NM_014289 human genbank 54_36p -1 reviewed silent c.615 p.T205 0.68 HMMPfam_Peptidase_C2 HMMPfam_C2;HMMPfam_Peptidase_C2;HMMPfam_Calpain_III;superfamily_Calpain large subunit middle domain (domain III);superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_Cysteine proteinases - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 151087577 151087577 C T SNP GABRA3 NM_000808 human genbank 54_36p -1 reviewed missense c.1258 p.A420T 1 HMMPfam_Neur_chan_memb HMMPfam_Neur_chan_memb;HMMPfam_Neur_chan_LBD;superfamily_Nicotinic receptor ligand binding domain-like;superfamily_Neurotransmitter-gated ion-channel transmembrane pore - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 153743231 153743231 C G SNP F8 NM_000132 human genbank 54_36p -1 reviewed missense c.6679 p.A2227P 1 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 16078640 16078640 A G SNP GRPR NM_005314 human genbank 54_36p 1 reviewed silent c.705 p.K235 0.38 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 32292683 32292683 C G SNP DMD NM_004006 human genbank 54_36p -1 reviewed missense c.5091 p.Q1697H 0.6 HMMPfam_Spectrin HMMPfam_ZZ;HMMPfam_WW;superfamily_WW domain;HMMPfam_CH;HMMPfam_Spectrin;superfamily_Prefoldin;superfamily_t-snare proteins;HMMPfam_efhand_1;HMMPfam_efhand_2;superfamily_Spectrin repeat;superfamily_EF-hand;superfamily_Calponin-homology domain CH-domain - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 47721099 47721099 T C SNP ZNF182 NM_006962 human genbank 54_36p -1 validated missense c.1331 p.N444S 0.01 HMMPfam_zf-C2H2 HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers;HMMPfam_KRAB - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 55133768 55133768 G T SNP PAGE2 NM_207339 human genbank 54_36p 1 provisional missense c.193 p.G65W NULL - - 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 65334323 65334323 C T SNP HEPH NM_014799 human genbank 54_36p 1 reviewed silent c.774 p.A258 0.9 NULL - - no_errors 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee 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 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 04e814c6-ea28-4ade-bc8f-a618552943da a85e2881-3685-486b-8c14-2b540dd5b1ee X 9860271 9860271 G C SNP SHROOM2 NM_001649 human genbank 54_36p 1 reviewed missense c.2948 p.S983T NULL HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_ASD2;HMMPfam_ASD1 - no_errors