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 BMPR1B 0 genome.wustl.edu 37 4 96045009 96045012 + Frame_Shift_Del DEL CTGT CTGT - TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 4 96045009 96045012 CTGT - DEL BMPR1B ENST00000440890 human ensembl 69_37n +1 known frame_shift_del c.488_491 p.C165fs 0.999:0.839:1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors BMPR1B HGNC ENSG00000138696 557 0 0.00 244 131 34.38 - - - CACNA1C 0 genome.wustl.edu 37 12 2800326 2800326 + Silent SNP G G A TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 12 2800326 2800326 G A SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known silent c.6591 p.E2197 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 62 0 0.00 33 6 15.00 - - - CBFB 0 genome.wustl.edu 37 16 67063313 67063313 + Missense_Mutation SNP G G A TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 16 67063313 67063313 G A SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 pfam_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 13 0 0.00 10 7 41.18 - - - DNAH6 0 genome.wustl.edu 37 2 84784910 84784910 + Missense_Mutation SNP C C T TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 2 84784910 84784910 C T SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.1654 p.P552S 0.998 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 291 1 0.34 151 55 26.70 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 214 0 0 151 36 19.15 - - - MAP3K1 0 genome.wustl.edu 37 5 56160697 56160700 + Frame_Shift_Del DEL CTAA CTAA - TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 5 56160697 56160700 CTAA - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.971_974 p.N325fs 1.000:1.000:1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 286 0 0.00 210 33 13.47 - - - MAP3K1 0 genome.wustl.edu 37 5 56161690 56161691 + Frame_Shift_Ins INS - - T TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 5 56161690 56161691 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.1187_1188 p.S397fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 325 0 0.00 198 69 25.84 - - - MTA3 0 genome.wustl.edu 37 2 42909567 42909567 + Missense_Mutation SNP A A C TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 2 42909567 42909567 A C SNP MTA3 ENST00000405094 human ensembl 69_37n +1 known missense c.729 p.R243S 0.960 pfscan_ELM2_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA3 HGNC ENSG00000057935 375 0 0.00 216 72 25.00 - - - NOL10 0 genome.wustl.edu 37 2 10729809 10729809 + Missense_Mutation SNP A A T TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 2 10729809 10729809 A T SNP NOL10 ENST00000381685 human ensembl 69_37n -1 known missense c.1491 p.D497E 0.982 pfam_NUC153 pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 296 0 0.00 184 64 25.60 - - - NUP155 0 genome.wustl.edu 37 5 37314414 37314414 + Missense_Mutation SNP T T G TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 5 37314414 37314414 T G SNP NUP155 ENST00000231498 human ensembl 69_37n -1 known missense c.2322 p.E774D 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 144 0 0.00 92 34 26.98 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 220 0 0.00 155 60 27.91 - - - RNF180 0 genome.wustl.edu 37 5 63510190 63510190 + Missense_Mutation SNP C C T TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 5 63510190 63510190 C T SNP RNF180 ENST00000389100 human ensembl 69_37n +1 known missense c.1037 p.S346L 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 138 0 0.00 95 29 23.39 - - - RPAP3 0 genome.wustl.edu 37 12 48091472 48091472 + Missense_Mutation SNP C C A TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 12 48091472 48091472 C A SNP RPAP3 ENST00000005386 human ensembl 69_37n -1 known missense c.325 p.D109Y 0.981 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 267 0 0.00 206 59 22.26 - - - SH2D5 0 genome.wustl.edu 37 1 21048381 21048381 + Silent SNP G G A TCGA-BH-A0DT-01A-21D-A12B-09 TCGA-BH-A0DT-11A-12D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30dbe353-86d5-40ed-84c2-dbddf7beb17b 03c623e2-04d7-43ea-ade1-5f5a619cd5c8 1 21048381 21048381 G A SNP SH2D5 ENST00000444387 human ensembl 69_37n -1 known silent c.1176 p.Y392 0.571 pfscan_SH2 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 29 0 0.00 25 4 13.79 - - -