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 AASDH 0 genome.wustl.edu 37 4 57216157 57216157 + Frame_Shift_Del DEL C C - TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 4 57216157 57216157 C - DEL AASDH ENST00000205214 human ensembl 69_37n -1 known frame_shift_del c.1760 p.G587fs 1.000 pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,pfscan_Acyl_carrier_prot-like pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 35 0 0.00 10 2 16.67 - - - ABCA13 0 genome.wustl.edu 37 7 48494768 48494768 + Missense_Mutation SNP G G T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 7 48494768 48494768 G T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.12700 p.V4234F 0.708 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 10 0 0.00 10 11 52.38 - - - ANKRD30BP2 0 genome.wustl.edu 37 21 14424153 14424153 + RNA SNP C C A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 21 14424153 14424153 C A SNP ANKRD30BP2 ENST00000471407 human ensembl 69_37n +1 known rna NULL NULL 0.013 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 8 0 0.00 11 5 31.25 - - - ARHGEF1 0 genome.wustl.edu 37 19 42410160 42410160 + Missense_Mutation SNP C C T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 19 42410160 42410160 C T SNP ARHGEF1 ENST00000378152 human ensembl 69_37n +1 known missense c.2420 p.A807V 0.992 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 44 0 0.00 39 18 31.58 - - - C9orf43 0 genome.wustl.edu 37 9 116187645 116187646 + In_Frame_Ins INS - - GCA TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 9 116187645 116187646 - GCA INS C9orf43 ENST00000288462 human ensembl 69_37n +1 known in_frame_ins c.887_888 p.300in_frame_insQ 0.000:0.211 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 109 1 0.91 135 35 20.59 - - - CACNA1D 0 genome.wustl.edu 37 3 53765129 53765131 + In_Frame_Del DEL AAC AAC - TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 3 53765129 53765131 AAC - DEL CACNA1D ENST00000288139 human ensembl 69_37n +1 known in_frame_del c.2422_2424 p.N809in_frame_del 1.000:1.000:1.000 prints_LVDCC_a1dsu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 149 0 0.00 67 18 21.18 - - - CACNA2D2 0 genome.wustl.edu 37 3 50413608 50413608 + Silent SNP G G A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 3 50413608 50413608 G A SNP CACNA2D2 ENST00000435965 human ensembl 69_37n -1 known silent c.1638 p.N546 1.000 pfam_Cache_domain pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 78 0 0.00 81 33 28.95 - - - CEP290 0 genome.wustl.edu 37 12 88474172 88474172 + Silent SNP C C T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 12 88474172 88474172 C T SNP CEP290 ENST00000309041 human ensembl 69_37n -1 known silent c.5019 p.Q1673 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 196 0 0.00 99 35 26.12 - - - CSMD3 0 genome.wustl.edu 37 8 113841931 113841931 + Silent SNP T T G TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 8 113841931 113841931 T G SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known silent c.1843 p.R615 0.991 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 151 0 0.00 164 99 37.64 - - - DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 3 57509313 57509313 T - DEL DNAH12 ENST00000351747 human ensembl 69_37n -1 known frame_shift_del c.276 p.G93fs 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 67 0 0.00 16 3 15.79 - - - FBXO18 0 genome.wustl.edu 37 10 5937117 5937117 + Missense_Mutation SNP G G T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 10 5937117 5937117 G T SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known missense c.121 p.A41S 0.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 27 0 0.00 37 9 19.57 - - - IGHM 0 genome.wustl.edu 37 14 106321751 106321751 + Silent SNP C C T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 14 106321751 106321751 C T SNP IGHM ENST00000390559 human ensembl 69_37n -1 known silent c.483 p.T161 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHM HGNC ENSG00000211899 58 0 0.00 118 42 26.25 - - - KCNQ2 0 genome.wustl.edu 37 20 62038263 62038263 + Missense_Mutation SNP C C T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 20 62038263 62038263 C T SNP KCNQ2 ENST00000354587 human ensembl 69_37n -1 known missense c.2377 p.D793N 1.000 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 12 0 0.00 15 8 34.78 - - - MLLT4 0 genome.wustl.edu 37 6 168312077 168312077 + Nonsense_Mutation SNP C C T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 6 168312077 168312077 C T SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known nonsense c.1945 p.Q649* 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 158 0 0.00 250 44 14.97 - - - NBPF1 0 genome.wustl.edu 37 1 16891365 16891365 + RNA SNP G G A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 1 16891365 16891365 G A SNP NBPF1 ENST00000401007 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors NBPF1 HGNC ENSG00000219481 15 0 0.00 25 7 21.88 - - - NTSR1 0 genome.wustl.edu 37 20 61340826 61340826 + Silent SNP G G A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 20 61340826 61340826 G A SNP NTSR1 ENST00000370501 human ensembl 69_37n +1 known silent c.267 p.A89 0.987 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NT1_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_NT1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor - no_errors NTSR1 HGNC ENSG00000101188 32 0 0.00 56 23 29.11 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 91 0 0.00 103 47 31.13 - - - SH2D2A 0 genome.wustl.edu 37 1 156784870 156784870 + Silent SNP G G A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 1 156784870 156784870 G A SNP SH2D2A ENST00000392306 human ensembl 69_37n -1 known silent c.267 p.H89 0.417 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 57 0 0.00 58 17 22.67 - - - TLR10 0 genome.wustl.edu 37 4 38777170 38777172 + In_Frame_Del DEL AAC AAC - TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 4 38777170 38777172 AAC - DEL TLR10 ENST00000308973 human ensembl 69_37n -1 known in_frame_del c.42_40 p.V14in_frame_del 0.000:0.000:0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 110 0 0.00 89 20 18.35 - - - USH2A 0 genome.wustl.edu 37 1 215820992 215820992 + Missense_Mutation SNP G G A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 1 215820992 215820992 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.14663 p.T4888M 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 86 0 0.00 119 34 22.22 - - - USP9X 0 genome.wustl.edu 37 X 41025364 41025364 + Missense_Mutation SNP G G A TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 X 41025364 41025364 G A SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.2225 p.R742Q 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 187 0 0.00 106 39 26.71 - - - WFIKKN1 0 genome.wustl.edu 37 16 683760 683760 + Silent SNP C C T TCGA-B6-A0X7-01A-11D-A10M-09 TCGA-B6-A0X7-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx be5f93af-844a-4adb-ad89-05bfeefa58cd f50ae895-84cf-4ce7-9663-167b5b951516 16 683760 683760 C T SNP WFIKKN1 ENST00000319070 human ensembl 69_37n +1 known silent c.1350 p.A450 0.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 15 0 0.00 21 13 38.24 - - -