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 ENSG00000211459 0 genome.wustl.edu 36 MT 703 703 + RNA SNP G A A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 MT 703 703 G A SNP ENSG00000211459 ENST00000389680 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors ENSG00000210077 0 genome.wustl.edu 36 MT 1625 1625 + RNA SNP G A A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 MT 1625 1625 G A SNP ENSG00000210077 ENST00000387342 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors MT-ND5 4540 genome.wustl.edu 36 MT 12540 12540 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 MT 12540 12540 G A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known nonsense c.203 p.W68* NULL HMMPfam_Oxidored_q1_N HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors MT-ND5 4540 genome.wustl.edu 36 MT 12811 12811 + Silent SNP A A G novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 MT 12811 12811 A G SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known silent c.474 p.W158 NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors TP53 7157 genome.wustl.edu 36 17 7519125 7519125 + Missense_Mutation SNP G G C novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 17 7519125 7519125 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.530 p.P177R 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ADCY2 108 genome.wustl.edu 36 5 7679301 7679301 + Missense_Mutation SNP T T A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 5 7679301 7679301 T A SNP ADCY2 NM_020546 human genbank 54_36p +1 reviewed missense c.592 p.F198I 1.000 NULL HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors FRMPD4 9758 genome.wustl.edu 36 X 12648822 12648822 + Missense_Mutation SNP A A G novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 X 12648822 12648822 A G SNP FRMPD4 ENST00000304087 human ensembl 54_36p +1 known missense c.4192 p.S1398G 1.000 NULL superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 - no_start_codon MLL4 9757 genome.wustl.edu 36 19 40910354 40910354 + Missense_Mutation SNP C C G novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 19 40910354 40910354 C G SNP MLL4 NM_014727 human genbank 54_36p +1 reviewed missense c.4292 p.S1431C 0.987 NULL HMMPfam_AT_hook,HMMPfam_zf-CXXC - pseudogene:no_stop_codon:bad_bp_length_for_coding_region BIK 638 genome.wustl.edu 36 22 41850018 41850018 + Missense_Mutation SNP C C T novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 22 41850018 41850018 C T SNP BIK NM_001197 human genbank 54_36p +1 reviewed missense c.46 p.L16F 0.000 NULL PatternScan_BH3 - no_errors TTC7A 57217 genome.wustl.edu 36 2 47141511 47141511 + Missense_Mutation SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 2 47141511 47141511 G A SNP TTC7A NM_020458 human genbank 54_36p +1 validated missense c.2252 p.R751Q 0.999 superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028 superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1,HMMPfam_TPR_2 - no_errors SALL1 6299 genome.wustl.edu 36 16 49730723 49730723 + Missense_Mutation SNP C C T novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 16 49730723 49730723 C T SNP SALL1 NM_002968 human genbank 54_36p -1 reviewed missense c.2911 p.D971N 1.000 NULL HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors HERC1 8925 genome.wustl.edu 36 15 61751768 61751768 + Silent SNP C C A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 15 61751768 61751768 C A SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed silent c.8025 p.V2675 0.994 NULL superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00449,HMMPfam_SPRY,PatternScan_PHOSPHOPANTETHEINE,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,PatternScan_ARGINASE_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors LOC441506 441506 genome.wustl.edu 36 16 72532566 72532566 + RNA SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 16 72532566 72532566 G A SNP LOC441506 XR_017565 human genbank 54_36p -1 model rna NULL NULL 0.974 - - - pseudogene MON1B 22879 genome.wustl.edu 36 16 75786357 75786357 + Missense_Mutation SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 16 75786357 75786357 G A SNP MON1B NM_014940 human genbank 54_36p +1 validated missense c.1100 p.R367Q 1.000 HMMPfam_Mon1 HMMPfam_Mon1 - no_errors MYO7A 4647 genome.wustl.edu 36 11 76545685 76545685 + Missense_Mutation SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 11 76545685 76545685 G A SNP MYO7A NM_000260 human genbank 54_36p +1 reviewed missense c.722 p.R241H 0.414 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_FERM_M - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77925984 77925984 + Silent SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 8 77925984 77925984 G A SNP ZFHX4 NM_024721 human genbank 54_36p +1 validated silent c.4137 p.A1379 0.363 superfamily_C2H2 and C2HC zinc fingers 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 FBXW4 6468 genome.wustl.edu 36 10 103361497 103361497 + Missense_Mutation SNP C C T novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 10 103361497 103361497 C T SNP FBXW4 NM_022039 human genbank 54_36p -1 reviewed missense c.997 p.E333K 1.000 superfamily_WD40_like,HMMSmart_WD40 PatternScan_WD_REPEATS_1,superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors IGSF3 3321 genome.wustl.edu 36 1 116923936 116923936 + Missense_Mutation SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 1 116923936 116923936 G A SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.2995 p.R999C 1.000 superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig - no_errors MLL 4297 genome.wustl.edu 36 11 117881785 117881785 + Missense_Mutation SNP G G A novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 11 117881785 117881785 G A SNP MLL NM_005933 human genbank 54_36p +1 validated missense c.9959 p.S3320N 1.000 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors uc003vzh.2 0 genome.wustl.edu 36 7 141949422 141949422 + Missense_Mutation SNP G G T novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 7 141949422 141949422 G T SNP uc003vzh.2 ENST00000390386 human ensembl 54_36p +1 known missense c.248 p.R83L 0.011 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region NF1 4763 genome.wustl.edu 36 17 26610176 26610180 + Frame_Shift_Del DEL ATACT ATACT - novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 ATACT ATACT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 17 26610176 26610180 ATACT - DEL NF1 NM_001042492 human genbank 54_36p +1 reviewed frame_shift_del c.4333_4337 p.I1445fs 1.000:1.000:0.998:1.000:1.000 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 (deletion:cds_exon[26610176,26610273]) no_errors HIST1H2BL 8340 genome.wustl.edu 36 6 27883536 27883536 + Frame_Shift_Del DEL T T - novel unknown TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c2b715fd-1115-4496-a75c-90174080a96c 2906ec4b-8fce-443d-9fa5-1a9c8fb19865 6 27883536 27883536 T - DEL HIST1H2BL NM_003519 human genbank 54_36p -1 reviewed frame_shift_del c.128 p.Y43fs 1.000 superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone,PatternScan_HISTONE_H2B (deletion:cds_exon[27883283,27883663]) no_errors