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 ABCA2 0 genome.wustl.edu 37 9 139905720 139905720 + Missense_Mutation SNP G G A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 9 139905720 139905720 G A SNP ABCA2 ENST00000479446 human ensembl 69_37n -1 known missense c.3890 p.S1297L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA2 HGNC ENSG00000107331 50 0 0.00 33 6 15.38 - - - ADAM23 0 genome.wustl.edu 37 2 207406859 207406859 + Splice_Site SNP G G A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 2 207406859 207406859 G A SNP ADAM23 ENST00000264377 human ensembl 69_37n +1 known splice_site c.656+1 e5+1 1.000 - - - no_errors ADAM23 HGNC ENSG00000114948 51 0 0.00 27 13 32.50 - - - C6orf62 0 genome.wustl.edu 37 6 24709014 24709017 + Frame_Shift_Del DEL CTGT CTGT - TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 6 24709014 24709017 CTGT - DEL C6orf62 ENST00000378119 human ensembl 69_37n -1 known frame_shift_del c.555_552 p.R184fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 77 0 0.00 53 28 34.57 - - - DHX40 0 genome.wustl.edu 37 17 57652830 57652830 + Missense_Mutation SNP C C T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 17 57652830 57652830 C T SNP DHX40 ENST00000251241 human ensembl 69_37n +1 known missense c.971 p.T324I 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 102 0 0.00 68 18 20.93 - - - DNASE1L3 0 genome.wustl.edu 37 3 58178422 58178422 + Missense_Mutation SNP G G A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 3 58178422 58178422 G A SNP DNASE1L3 ENST00000318316 human ensembl 69_37n -1 known missense c.910 p.R304C 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L3 HGNC ENSG00000163687 79 0 0.00 58 21 26.58 - - - ELOVL6 0 genome.wustl.edu 37 4 111026713 111026713 + Missense_Mutation SNP C C G TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 4 111026713 111026713 C G SNP ELOVL6 ENST00000394607 human ensembl 69_37n -1 known missense c.161 p.R54P 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENSG00000170522 48 0 0.00 27 4 12.50 - - - EYA4 0 genome.wustl.edu 37 6 133783605 133783605 + Missense_Mutation SNP G G T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 6 133783605 133783605 G T SNP EYA4 ENST00000355167 human ensembl 69_37n +1 known missense c.570 p.L190F 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 127 0 0.00 104 13 11.11 - - - FERD3L 0 genome.wustl.edu 37 7 19184779 19184780 + Frame_Shift_Ins INS - - A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 7 19184779 19184780 - A INS FERD3L ENST00000275461 human ensembl 69_37n -1 known frame_shift_ins c.207_206 p.D70fs 0.001:0.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 21 0 0.00 27 14 34.15 - - - GBP3 0 genome.wustl.edu 37 1 89477458 89477458 + Missense_Mutation SNP A A T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 1 89477458 89477458 A T SNP GBP3 ENST00000370481 human ensembl 69_37n -1 known missense c.1121 p.V374E 0.001 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP3 HGNC ENSG00000117226 21 0 0.00 6 7 53.85 - - - IKBKAP 0 genome.wustl.edu 37 9 111655314 111655314 + Missense_Mutation SNP C C G TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 9 111655314 111655314 C G SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.2910 p.L970F 0.995 pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 99 0 0.00 58 9 13.43 - - - KRTAP4-6 0 genome.wustl.edu 37 17 39296555 39296555 + Missense_Mutation SNP C C T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 17 39296555 39296555 C T SNP KRTAP4-6 ENST00000345847 human ensembl 69_37n -1 known missense c.185 p.R62H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 73 0 0.00 45 9 16.67 - - - MUC16 0 genome.wustl.edu 37 19 9068688 9068688 + Missense_Mutation SNP G G A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 19 9068688 9068688 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.18758 p.S6253L 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 67 0 0.00 58 9 13.24 - - - MYO7B 0 genome.wustl.edu 37 2 128364902 128364902 + Missense_Mutation SNP G G A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 2 128364902 128364902 G A SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.2546 p.R849H 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 46 0 0.00 27 5 15.62 - - - OPCML 0 genome.wustl.edu 37 11 132527109 132527109 + Silent SNP C C A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 11 132527109 132527109 C A SNP OPCML ENST00000541867 human ensembl 69_37n -1 known silent c.273 p.L91 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors OPCML HGNC ENSG00000183715 94 0 0.00 90 16 15.09 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 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 49 0 0.00 38 16 29.63 - - - PJA1 0 genome.wustl.edu 37 X 68382137 68382137 + Silent SNP G G C TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e X 68382137 68382137 G C SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known silent c.945 p.G315 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 43 0 0.00 28 18 39.13 - - - RAB21 0 genome.wustl.edu 37 12 72149064 72149064 + Missense_Mutation SNP T T C TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 12 72149064 72149064 T C SNP RAB21 ENST00000261263 human ensembl 69_37n +1 known missense c.155 p.L52P 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB21 HGNC ENSG00000080371 22 0 0.00 12 5 29.41 - - - RBBP6 0 genome.wustl.edu 37 16 24560353 24560353 + Silent SNP A A G TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 16 24560353 24560353 A G SNP RBBP6 ENST00000452655 human ensembl 69_37n +1 novel silent c.354 p.L118 0.993 NULL pfam_DWNN_domain - no_errors RBBP6 HGNC ENSG00000122257 113 0 0.00 150 18 10.71 - - - RBM44 0 genome.wustl.edu 37 2 238728887 238728887 + Missense_Mutation SNP A A C TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 2 238728887 238728887 A C SNP RBM44 ENST00000316997 human ensembl 69_37n +1 known missense c.1809 p.R603S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 71 0 0.00 42 9 17.65 - - - RGPD3 0 genome.wustl.edu 37 2 107029550 107029550 + Silent SNP C C T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 2 107029550 107029550 C T SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known silent c.5256 p.A1752 0.997 smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 136 0 0.00 105 37 26.06 - - - RHBDF1 0 genome.wustl.edu 37 16 109808 109808 + Missense_Mutation SNP C C T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 16 109808 109808 C T SNP RHBDF1 ENST00000262316 human ensembl 69_37n -1 known missense c.1739 p.S580N 0.998 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 123 1 0.81 153 74 32.60 - - - SF3B1 0 genome.wustl.edu 37 2 198267481 198267481 + Missense_Mutation SNP T T C TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 2 198267481 198267481 T C SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.1876 p.N626D 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 63 0 0.00 39 15 27.27 - - - TARS 0 genome.wustl.edu 37 5 33457372 33457372 + Missense_Mutation SNP C C T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 5 33457372 33457372 C T SNP TARS ENST00000265112 human ensembl 69_37n +1 known missense c.848 p.T283M 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 87 0 0.00 63 24 27.59 - - - TRPM1 0 genome.wustl.edu 37 15 31338429 31338429 + Missense_Mutation SNP G G T TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 15 31338429 31338429 G T SNP TRPM1 ENST00000542188 human ensembl 69_37n -1 known missense c.1823 p.A608D 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 42 0 0.00 30 4 11.76 - - - ZNF217 0 genome.wustl.edu 37 20 52192684 52192684 + Silent SNP G G A TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba6af877-7a23-4738-a867-01a5dd8a8050 841d08d8-8abb-410f-9907-d96af416aa1e 20 52192684 52192684 G A SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known silent c.2619 p.L873 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 31 0 0.00 22 9 29.03 - - -