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 ABHD13 0 genome.wustl.edu 37 13 108882272 108882272 + Missense_Mutation SNP C C T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 13 108882272 108882272 C T SNP ABHD13 ENST00000375898 human ensembl 69_37n +1 known missense c.706 p.R236C 1.000 NULL pfam_AB_hydrolase_1,pfam_AXE1 - no_errors ABHD13 HGNC ENSG00000139826 94 0 0.00 76 22 22.45 - - - ASXL2 0 genome.wustl.edu 37 2 25982469 25982469 + Missense_Mutation SNP G G A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 2 25982469 25982469 G A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.821 p.P274L 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 151 0 0.00 137 23 14.37 - - - BRCA1 0 genome.wustl.edu 37 17 41244468 41244468 + Missense_Mutation SNP C C A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 17 41244468 41244468 C A SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known missense c.3080 p.S1027I 0.912 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 121 0 0.00 70 19 21.35 - - - C14orf38 0 genome.wustl.edu 37 14 60011911 60011911 + Missense_Mutation SNP G G T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 14 60011911 60011911 G T SNP C14orf38 ENST00000281581 human ensembl 69_37n -1 known missense c.1142 p.A381D 0.000 NULL superfamily_Prefoldin - no_errors C14orf38 HGNC ENSG00000151838 120 1 0.83 101 18 15.13 - - - CBFB 0 genome.wustl.edu 37 16 67070543 67070543 + Missense_Mutation SNP C C G TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 16 67070543 67070543 C G SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.167 p.A56G 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 98 0 0.00 42 70 61.40 - - - CBX2 0 genome.wustl.edu 37 17 77755934 77755934 + Missense_Mutation SNP G G A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 17 77755934 77755934 G A SNP CBX2 ENST00000269399 human ensembl 69_37n +1 known missense c.622 p.A208T 0.001 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX2 HGNC ENSG00000173894 18 0 0.00 10 5 33.33 - - - CD1C 0 genome.wustl.edu 37 1 158261046 158261046 + Missense_Mutation SNP T T C TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 1 158261046 158261046 T C SNP CD1C ENST00000368170 human ensembl 69_37n +1 known missense c.184 p.S62P 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1C HGNC ENSG00000158481 79 0 0.00 84 26 23.42 - - - CXorf36 0 genome.wustl.edu 37 X 45011033 45011033 + Missense_Mutation SNP C C T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 X 45011033 45011033 C T SNP CXorf36 ENST00000398000 human ensembl 69_37n -1 known missense c.1166 p.C389Y 0.966 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 102 0 0.00 42 23 35.38 - - - DSPP 0 genome.wustl.edu 37 4 88534248 88534248 + Missense_Mutation SNP T T A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 4 88534248 88534248 T A SNP DSPP ENST00000282478 human ensembl 69_37n +1 known missense c.910 p.Y304N 0.769 NULL NULL - no_errors DSPP HGNC ENSG00000152591 61 0 0.00 33 12 26.67 - - - E2F7 0 genome.wustl.edu 37 12 77439990 77439990 + Silent SNP C C T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 12 77439990 77439990 C T SNP E2F7 ENST00000322886 human ensembl 69_37n -1 known silent c.657 p.L219 0.120 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 131 0 0.00 63 51 44.74 - - - ELP6 0 genome.wustl.edu 37 3 47545880 47545880 + Missense_Mutation SNP T T C TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 3 47545880 47545880 T C SNP ELP6 ENST00000296149 human ensembl 69_37n -1 known missense c.263 p.K88R 1.000 pfam_UPF0405 pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 52 0 0.00 19 8 29.63 - - - GATA3 0 genome.wustl.edu 37 10 8115705 8115706 + Frame_Shift_Del DEL AA AA - TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 10 8115705 8115706 AA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1054_1055 p.N352fs 1.000:1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 39 0 0.00 28 9 24.32 - - - GRM8 0 genome.wustl.edu 37 7 126173165 126173165 + Silent SNP G G T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 7 126173165 126173165 G T SNP GRM8 ENST00000339582 human ensembl 69_37n -1 known silent c.2271 p.I757 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 124 0 0.00 93 47 33.57 - - - IFNA21 0 genome.wustl.edu 37 9 21166507 21166507 + Missense_Mutation SNP C C A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 9 21166507 21166507 C A SNP IFNA21 ENST00000380225 human ensembl 69_37n -1 known missense c.105 p.R35S 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA21 HGNC ENSG00000137080 134 0 0.00 108 20 15.62 - - - MLL3 0 genome.wustl.edu 37 7 151932951 151932952 + Frame_Shift_Ins INS - - GG TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 7 151932951 151932952 - GG INS MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_ins c.2720_2719 p.R907fs 1.000:0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 78 0 0.00 82 17 17.17 - - - MLL3 0 genome.wustl.edu 37 7 152012230 152012230 + Nonsense_Mutation SNP G G A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 7 152012230 152012230 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.583 p.Q195* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 186 0 0.00 134 26 16.25 - - - SEMA3G 0 genome.wustl.edu 37 3 52469820 52469820 + Silent SNP G G A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 3 52469820 52469820 G A SNP SEMA3G ENST00000231721 human ensembl 69_37n -1 known silent c.2148 p.F716 0.001 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3G HGNC ENSG00000010319 72 0 0.00 33 13 28.26 - - - SLC1A6 0 genome.wustl.edu 37 19 15079170 15079170 + Missense_Mutation SNP G G A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 19 15079170 15079170 G A SNP SLC1A6 ENST00000221742 human ensembl 69_37n -1 known missense c.493 p.R165W 0.761 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 65 0 0.00 59 23 28.05 - - - SLC25A13 0 genome.wustl.edu 37 7 95761189 95761189 + Missense_Mutation SNP G G A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 7 95761189 95761189 G A SNP SLC25A13 ENST00000416240 human ensembl 69_37n -1 known missense c.1460 p.A487V 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A13 HGNC ENSG00000004864 49 0 0.00 30 7 18.92 - - - SLC40A1 0 genome.wustl.edu 37 2 190428522 190428522 + Missense_Mutation SNP G G T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 2 190428522 190428522 G T SNP SLC40A1 ENST00000261024 human ensembl 69_37n -1 known missense c.1190 p.P397H 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 58 0 0.00 48 18 27.27 - - - SYNCRIP 0 genome.wustl.edu 37 6 86332254 86332254 + Silent SNP T T C TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 6 86332254 86332254 T C SNP SYNCRIP ENST00000369622 human ensembl 69_37n -1 known silent c.954 p.G318 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 SYNCRIP HGNC ENSG00000135316 220 1 0.45 145 52 26.40 - - - SYT9 0 genome.wustl.edu 37 11 7439351 7439351 + Missense_Mutation SNP C C A TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 11 7439351 7439351 C A SNP SYT9 ENST00000318881 human ensembl 69_37n +1 known missense c.1329 p.D443E 0.998 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 77 0 0.00 66 26 28.26 - - - XAB2 0 genome.wustl.edu 37 19 7691056 7691056 + Missense_Mutation SNP C C T TCGA-E2-A1L9-01A-11D-A13L-09 TCGA-E2-A1L9-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a50cd2b2-913d-41bf-94ad-45464547b348 893c62e3-94ee-49f2-a0e1-64eed978c722 19 7691056 7691056 C T SNP XAB2 ENST00000358368 human ensembl 69_37n -1 known missense c.623 p.R208H 0.999 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 43 0 0.00 33 9 21.43 - - -