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 ARHGAP23 0 genome.wustl.edu 37 17 36626102 36626102 + Missense_Mutation SNP G G A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 17 36626102 36626102 G A SNP ARHGAP23 ENST00000431231 human ensembl 69_37n +1 known missense c.1931 p.R644H 0.760 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 116 0 0.00 92 28 23.33 - - - ATN1 0 genome.wustl.edu 37 12 7045461 7045461 + Missense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 12 7045461 7045461 C T SNP ATN1 ENST00000356654 human ensembl 69_37n +1 known missense c.1031 p.P344L 0.995 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 138 0 0.00 150 29 16.20 - - - C20orf72 0 genome.wustl.edu 37 20 17970619 17970619 + Nonsense_Mutation SNP G G A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 20 17970619 17970619 G A SNP C20orf72 ENST00000377704 human ensembl 69_37n +1 known nonsense c.549 p.W183* 1.000 NULL NULL - no_errors C20orf72 HGNC ENSG00000125871 263 0 0.00 236 39 14.13 - - - C9orf114 0 genome.wustl.edu 37 9 131587304 131587304 + Missense_Mutation SNP C C G TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 9 131587304 131587304 C G SNP C9orf114 ENST00000361256 human ensembl 69_37n -1 known missense c.664 p.E222Q 1.000 pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 51 0 0.00 104 13 11.11 - - - CARD10 0 genome.wustl.edu 37 22 37912135 37912135 + Nonsense_Mutation SNP G G A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 22 37912135 37912135 G A SNP CARD10 ENST00000251973 human ensembl 69_37n -1 known nonsense c.544 p.Q182* 0.992 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 27 0 0.00 24 5 17.24 - - - CEP135 0 genome.wustl.edu 37 4 56883874 56883874 + Nonsense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 4 56883874 56883874 C T SNP CEP135 ENST00000257287 human ensembl 69_37n +1 known nonsense c.2863 p.R955* 0.970 superfamily_Prefoldin superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 74 0 0.00 53 6 10.17 - - - DKFZp434L192 0 genome.wustl.edu 37 7 56564210 56564210 + RNA SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 7 56564210 56564210 C T SNP DKFZp434L192 ENST00000566570 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors RP11-760D2.11 Clone_based_vega_gene ENSG00000261275 8 0 0.00 14 13 48.15 - - - ENOX2 0 genome.wustl.edu 37 X 129769019 129769019 + Missense_Mutation SNP A A C TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 X 129769019 129769019 A C SNP ENOX2 ENST00000338144 human ensembl 69_37n -1 known missense c.1445 p.L482R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 207 0 0.00 140 31 18.13 - - - GLS 0 genome.wustl.edu 37 2 191827719 191827719 + Silent SNP C C G TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 2 191827719 191827719 C G SNP GLS ENST00000412247 human ensembl 69_37n +1 putative silent c.516 p.L172 0.001 NULL pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_start_codon GLS HGNC ENSG00000115419 33 0 0.00 36 7 16.28 - - - HDX 0 genome.wustl.edu 37 X 83723943 83723943 + Missense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 X 83723943 83723943 C T SNP HDX ENST00000297977 human ensembl 69_37n -1 known missense c.788 p.R263H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 72 0 0.00 82 14 14.58 - - - HERC2P2 0 genome.wustl.edu 37 15 23317042 23317042 + RNA SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 15 23317042 23317042 C T SNP HERC2P2 ENST00000560464 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 9 0 0.00 9 5 35.71 - - - KLK12 0 genome.wustl.edu 37 19 51535184 51535184 + Silent SNP G G A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 19 51535184 51535184 G A SNP KLK12 ENST00000250351 human ensembl 69_37n -1 known silent c.405 p.T135 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors KLK12 HGNC ENSG00000186474 66 0 0.00 36 7 16.28 - - - MDM2 0 genome.wustl.edu 37 12 69233129 69233129 + Missense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 12 69233129 69233129 C T SNP MDM2 ENST00000462284 human ensembl 69_37n +1 known missense c.994 p.R332C 1.000 pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 105 0 0.00 112 13 10.40 - - - MEP1A 0 genome.wustl.edu 37 6 46803035 46803035 + Silent SNP G G A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 6 46803035 46803035 G A SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known silent c.1833 p.L611 0.000 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 52 0 0.00 51 9 15.00 - - - MRC2 0 genome.wustl.edu 37 17 60765922 60765922 + Nonsense_Mutation SNP C C A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 17 60765922 60765922 C A SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known nonsense c.3122 p.S1041* 0.866 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 200 0 0.00 202 29 12.55 - - - NBPF10 0 genome.wustl.edu 37 1 145323656 145323656 + Missense_Mutation SNP A A T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 1 145323656 145323656 A T SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.3493 p.I1165F 0.007 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 47 0 0.00 30 4 11.76 - - - POFUT2 0 genome.wustl.edu 37 21 46705636 46705636 + Silent SNP G G A TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 21 46705636 46705636 G A SNP POFUT2 ENST00000349485 human ensembl 69_37n -1 known silent c.339 p.L113 0.998 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 119 0 0.00 103 12 10.43 - - - POM121L9P 0 genome.wustl.edu 37 22 24659631 24659634 + RNA DEL CCGG CCGG - TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 CCGG CCGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 22 24659631 24659634 CCGG - DEL POM121L9P ENST00000414583 human ensembl 69_37n +1 known rna NULL NULL 0.995:0.996:0.997:0.998 - - - no_errors POM121L9P HGNC ENSG00000128262 55 0 0.00 36 4 10.00 - - - PYGB 0 genome.wustl.edu 37 20 25252034 25252034 + Missense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 20 25252034 25252034 C T SNP PYGB ENST00000216962 human ensembl 69_37n +1 known missense c.440 p.S147L 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 530 2 0.38 570 138 19.49 - - - REV1 0 genome.wustl.edu 37 2 100046338 100046338 + Nonsense_Mutation SNP G G C TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 2 100046338 100046338 G C SNP REV1 ENST00000258428 human ensembl 69_37n -1 known nonsense c.1511 p.S504* 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 121 0 0.00 111 13 10.48 - - - SCN2A 0 genome.wustl.edu 37 2 166179704 166179704 + Missense_Mutation SNP A A T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 2 166179704 166179704 A T SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.1710 p.R570S 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 39 0 0.00 49 9 15.52 - - - SLC2A2 0 genome.wustl.edu 37 3 170736326 170736326 + Missense_Mutation SNP A A G TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 3 170736326 170736326 A G SNP SLC2A2 ENST00000382808 human ensembl 69_37n -1 known missense c.8 p.L3P 0.991 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 169 0 0.00 106 22 17.19 - - - TPPP2 0 genome.wustl.edu 37 14 21500171 21500171 + Missense_Mutation SNP A A G TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 14 21500171 21500171 A G SNP TPPP2 ENST00000321760 human ensembl 69_37n +1 known missense c.448 p.T150A 0.006 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP2 HGNC ENSG00000179636 270 0 0.00 243 28 10.33 - - - ZC3H12C 0 genome.wustl.edu 37 11 110035921 110035921 + Missense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a630ed59-dd23-45e1-aa16-4f7a98e32728 d7dbbf16-03d9-4e08-9fea-d4fa3d8608d0 11 110035921 110035921 C T SNP ZC3H12C ENST00000278590 human ensembl 69_37n +1 known missense c.2111 p.P704L 0.176 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 137 0 0.00 143 20 12.27 - - -