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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A1CF 0 genome.wustl.edu 37 10 52596055 52596055 + Missense_Mutation SNP C C T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 10 52596055 52596055 C T SNP A1CF ENST00000282641 human ensembl 69_37n -1 known missense c.383 p.G128E 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 93 0 0.00 31 5 13.89 - - - ANKRD1 0 genome.wustl.edu 37 10 92675332 92675332 + Missense_Mutation SNP T T A TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 10 92675332 92675332 T A SNP ANKRD1 ENST00000371697 human ensembl 69_37n -1 known missense c.817 p.M273L 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD1 HGNC ENSG00000148677 119 0 0.00 52 7 11.86 - - - BCL11A 0 genome.wustl.edu 37 2 60687466 60687466 + RNA SNP G G T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 2 60687466 60687466 G T SNP BCL11A ENST00000477659 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors BCL11A HGNC ENSG00000119866 12 0 0.00 11 4 26.67 - - - CBX8 0 genome.wustl.edu 37 17 77768523 77768523 + Missense_Mutation SNP C C G TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 17 77768523 77768523 C G SNP CBX8 ENST00000269385 human ensembl 69_37n -1 known missense c.1081 p.V361L 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 31 0 0.00 11 3 21.43 - - - CD247 0 genome.wustl.edu 37 1 167404660 167404660 + Silent SNP C C T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 1 167404660 167404660 C T SNP CD247 ENST00000362089 human ensembl 69_37n -1 known silent c.312 p.K104 0.997 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 87 0 0.00 53 9 14.52 - - - CEP112 0 genome.wustl.edu 37 17 64173016 64173016 + Missense_Mutation SNP C C T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 17 64173016 64173016 C T SNP CEP112 ENST00000392769 human ensembl 69_37n -1 known missense c.229 p.G77S 0.991 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 93 0 0.00 66 8 10.81 - - - DDR1 0 genome.wustl.edu 37 6 30859824 30859824 + Missense_Mutation SNP G G T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 6 30859824 30859824 G T SNP DDR1 ENST00000446312 human ensembl 69_37n +1 known missense c.611 p.G204V 0.998 NULL pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors DDR1 HGNC ENSG00000204580 102 0 0.00 32 4 11.11 - - - DUS3L 0 genome.wustl.edu 37 19 5789558 5789558 + Frame_Shift_Del DEL T T - TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 19 5789558 5789558 T - DEL DUS3L ENST00000309061 human ensembl 69_37n -1 known frame_shift_del c.560 p.E187fs 0.104 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 17 0 0.00 3 2 40.00 - - - GDF5 0 genome.wustl.edu 37 20 34022326 34022326 + Missense_Mutation SNP A A G TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 20 34022326 34022326 A G SNP GDF5 ENST00000374369 human ensembl 69_37n -1 known missense c.887 p.I296T 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 27 0 0.00 9 3 25.00 - - - HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 11 43283606 43283606 A - DEL HNRNPKP3 ENST00000511537 human ensembl 69_37n -1 known rna NULL NULL 0.986 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 11 0 0.00 4 2 33.33 - - - KIF1B 0 genome.wustl.edu 37 1 10363725 10363725 + Missense_Mutation SNP G G T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 1 10363725 10363725 G T SNP KIF1B ENST00000377083 human ensembl 69_37n +1 known missense c.2482 p.D828Y 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 32 0 0.00 11 3 21.43 - - - MYH9 0 genome.wustl.edu 37 22 36702619 36702620 + Frame_Shift_Ins INS - - C TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 22 36702619 36702620 - C INS MYH9 ENST00000216181 human ensembl 69_37n -1 known frame_shift_ins c.1878_1877 p.M627fs 1.000:1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 46 0 0.00 14 2 12.50 - - - NOTCH3 0 genome.wustl.edu 37 19 15292514 15292514 + Missense_Mutation SNP C C T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 19 15292514 15292514 C T SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known missense c.2665 p.D889N 1.000 smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 27 0 0.00 6 3 33.33 - - - OSBPL10 0 genome.wustl.edu 37 3 31871579 31871579 + Nonsense_Mutation SNP G G A TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 3 31871579 31871579 G A SNP OSBPL10 ENST00000396556 human ensembl 69_37n -1 known nonsense c.682 p.R228* 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 47 0 0.00 30 6 16.67 - - - RUNX1 0 genome.wustl.edu 37 21 36259142 36259142 + Nonsense_Mutation SNP T T A TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 21 36259142 36259142 T A SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known nonsense c.349 p.K117* 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 44 0 0.00 11 5 31.25 - - - TMEM132A 0 genome.wustl.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 11 60703785 60703787 GGA - DEL TMEM132A ENST00000005286 human ensembl 69_37n +1 known in_frame_del c.2481_2483 p.E831in_frame_del 0.159:0.667:0.684 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 86 0 0.00 16 2 11.11 - - - TMEM175 0 genome.wustl.edu 37 4 947114 947114 + Missense_Mutation SNP C C G TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 4 947114 947114 C G SNP TMEM175 ENST00000264771 human ensembl 69_37n +1 known missense c.599 p.A200G 0.479 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 130 0 0.00 30 6 16.67 - - - TMX3 0 genome.wustl.edu 37 18 66364475 66364475 + Missense_Mutation SNP T T A TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 18 66364475 66364475 T A SNP TMX3 ENST00000299608 human ensembl 69_37n -1 known missense c.558 p.E186D 0.199 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 53 0 0.00 27 3 10.00 - - - VIL1 0 genome.wustl.edu 37 2 219294019 219294019 + Silent SNP G G T TCGA-AC-A2FB-01A-11D-A17D-09 TCGA-AC-A2FB-11A-13D-A19T-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e15e39d-f36b-44bf-ae27-2f52d88ef9dd edfc49b5-8519-44db-8c28-b6ad20a7a77a 2 219294019 219294019 G T SNP VIL1 ENST00000248444 human ensembl 69_37n +1 known silent c.579 p.L193 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors VIL1 HGNC ENSG00000127831 34 0 0.00 14 3 17.65 - - -