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 ACIN1 0 genome.wustl.edu 37 14 23548943 23548943 + Missense_Mutation SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 14 23548943 23548943 C A SNP ACIN1 ENST00000262710 human ensembl 69_37n -1 known missense c.1775 p.R592I 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 95 0 0.00 132 34 20.48 - - - AFG3L1P 0 genome.wustl.edu 37 16 90048301 90048301 + RNA SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 16 90048301 90048301 C A SNP AFG3L1P ENST00000388970 human ensembl 69_37n +1 known rna NULL NULL 0.980 - - - no_errors AFG3L1P HGNC ENSG00000223959 77 0 0.00 42 16 27.59 - - - ARHGAP4 0 genome.wustl.edu 37 X 153174974 153174974 + Missense_Mutation SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 X 153174974 153174974 C A SNP ARHGAP4 ENST00000454164 human ensembl 69_37n -1 novel missense c.695 p.W232L 0.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon ARHGAP4 HGNC ENSG00000089820 11 0 0.00 9 5 35.71 - - - ATF6 0 genome.wustl.edu 37 1 161821536 161821537 + Frame_Shift_Ins INS - - A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 1 161821536 161821537 - A INS ATF6 ENST00000367942 human ensembl 69_37n +1 known frame_shift_ins c.1344_1345 p.A449fs 1.000:1.000 NULL pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 67 0 0.00 85 42 33.07 - - - C12orf42 0 genome.wustl.edu 37 12 103700001 103700001 + Missense_Mutation SNP G G T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 12 103700001 103700001 G T SNP C12orf42 ENST00000378113 human ensembl 69_37n -1 known missense c.382 p.R128S 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 68 0 0.00 80 19 19.19 - - - CCDC74A 0 genome.wustl.edu 37 2 132288362 132288362 + Missense_Mutation SNP T T C TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 2 132288362 132288362 T C SNP CCDC74A ENST00000295171 human ensembl 69_37n +1 known missense c.506 p.M169T 0.001 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 14 0 0.00 19 6 24.00 - - - CCDC89 0 genome.wustl.edu 37 11 85396110 85396110 + Missense_Mutation SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 11 85396110 85396110 C A SNP CCDC89 ENST00000316398 human ensembl 69_37n -1 known missense c.1064 p.S355I 1.000 NULL NULL - no_errors CCDC89 HGNC ENSG00000179071 72 0 0.00 67 19 22.09 - - - CCRN4L 0 genome.wustl.edu 37 4 139964462 139964462 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 4 139964462 139964462 C T SNP CCRN4L ENST00000280614 human ensembl 69_37n +1 known missense c.425 p.P142L 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 16 0 0.00 15 6 28.57 - - - CLEC9A 0 genome.wustl.edu 37 12 10213790 10213790 + Silent SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 12 10213790 10213790 G A SNP CLEC9A ENST00000355819 human ensembl 69_37n +1 putative silent c.237 p.L79 0.003 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC9A HGNC ENSG00000197992 30 0 0.00 37 15 28.85 - - - CLOCK 0 genome.wustl.edu 37 4 56316278 56316279 + Frame_Shift_Del DEL GT GT - TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 4 56316278 56316279 GT - DEL CLOCK ENST00000309964 human ensembl 69_37n -1 known frame_shift_del c.1328_1327 p.T443fs 1.000:1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 53 0 0.00 71 12 14.46 - - - DENND1B 0 genome.wustl.edu 37 1 197641237 197641240 + Frame_Shift_Del DEL TGTC TGTC - TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 1 197641237 197641240 TGTC - DEL DENND1B ENST00000367396 human ensembl 69_37n -1 known frame_shift_del c.226_223 p.D75fs 1.000:1.000:1.000:1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 56 0 0.00 76 15 16.30 - - - DOCK11 0 genome.wustl.edu 37 X 117732028 117732028 + Frame_Shift_Del DEL A A - TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 X 117732028 117732028 A - DEL DOCK11 ENST00000276202 human ensembl 69_37n +1 known frame_shift_del c.2421 p.K808fs 0.998 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 61 0 0.00 91 11 10.68 - - - DYX1C1 0 genome.wustl.edu 37 15 55742419 55742419 + Splice_Site SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 15 55742419 55742419 C A SNP DYX1C1 ENST00000321149 human ensembl 69_37n -1 known splice_site c.783+1 e5+1 1.000 - - - no_errors DYX1C1 HGNC ENSG00000256061 68 0 0.00 68 10 12.82 - - - EEF1A1 0 genome.wustl.edu 37 6 74227785 74227786 + Frame_Shift_Ins INS - - A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 6 74227785 74227786 - A INS EEF1A1 ENST00000309268 human ensembl 69_37n -1 known frame_shift_ins c.1232_1231 p.C411fs 1.000:1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 22 0 0.00 34 13 27.66 - - - EIF4A2 0 genome.wustl.edu 37 3 186507018 186507018 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 3 186507018 186507018 C T SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known missense c.1187 p.T396I 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 50 0 0.00 85 10 10.42 - - - ENPP5 0 genome.wustl.edu 37 6 46135740 46135740 + Missense_Mutation SNP T T A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 6 46135740 46135740 T A SNP ENPP5 ENST00000230565 human ensembl 69_37n -1 known missense c.260 p.N87I 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 41 0 0.00 40 14 25.93 - - - FAP 0 genome.wustl.edu 37 2 163072473 163072473 + Silent SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 2 163072473 163072473 G A SNP FAP ENST00000188790 human ensembl 69_37n -1 known silent c.801 p.I267 0.412 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 35 0 0.00 42 8 16.00 - - - GBF1 0 genome.wustl.edu 37 10 104111081 104111081 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 10 104111081 104111081 G A SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known missense c.364 p.V122M 1.000 superfamily_ARM-type_fold pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 42 0 0.00 27 14 34.15 - - - GCAT 0 genome.wustl.edu 37 22 38206091 38206091 + Missense_Mutation SNP T T C TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 22 38206091 38206091 T C SNP GCAT ENST00000248924 human ensembl 69_37n +1 known missense c.254 p.I85T 1.000 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 62 0 0.00 50 15 23.08 - - - GGA1 0 genome.wustl.edu 37 22 38013003 38013003 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 22 38013003 38013003 C T SNP GGA1 ENST00000343632 human ensembl 69_37n +1 known missense c.203 p.T68M 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 14 0 0.00 10 7 41.18 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685826 23685828 + In_Frame_Del DEL TCT TCT - TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 15 23685826 23685828 TCT - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative in_frame_del c.1796_1794 p.E598in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 18 0 0.00 12 8 40.00 - - - KCND3 0 genome.wustl.edu 37 1 112321061 112321061 + Missense_Mutation SNP G G C TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 1 112321061 112321061 G C SNP KCND3 ENST00000315987 human ensembl 69_37n -1 known missense c.1515 p.I505M 1.000 pfam_K_chnl_volt-dep_Kv4_C pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 47 0 0.00 58 15 20.55 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43591861 43591861 + RNA SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 17 43591861 43591861 G A SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors LRRC37A4P HGNC ENSG00000214425 33 0 0.00 15 5 25.00 - - - MLL2 0 genome.wustl.edu 37 12 49427194 49427194 + Missense_Mutation SNP G G C TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 12 49427194 49427194 G C SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.11294 p.T3765R 0.294 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_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 33 0 0.00 25 7 21.88 - - - MSH3 0 genome.wustl.edu 37 5 80088607 80088607 + Missense_Mutation SNP A A G TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 5 80088607 80088607 A G SNP MSH3 ENST00000265081 human ensembl 69_37n +1 known missense c.2599 p.I867V 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 71 0 0.00 52 25 32.05 - - - MUC4 0 genome.wustl.edu 37 3 195506579 195506579 + Missense_Mutation SNP T T C TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 3 195506579 195506579 T C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11872 p.T3958A 0.255 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 25 0 0.00 28 8 22.22 - - - MYO18B 0 genome.wustl.edu 37 22 26164533 26164533 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 22 26164533 26164533 G A SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.650 p.R217Q 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 18 0 0.00 14 5 26.32 - - - NCOR2 0 genome.wustl.edu 37 12 124904522 124904522 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 12 124904522 124904522 C T SNP NCOR2 ENST00000356219 human ensembl 69_37n -1 known missense c.1463 p.R488Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 59 0 0.00 68 20 22.47 - - - PIK3CD 0 genome.wustl.edu 37 1 9784395 9784395 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 1 9784395 9784395 G A SNP PIK3CD ENST00000536656 human ensembl 69_37n +1 known missense c.2852 p.R951H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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 PIK3CD HGNC ENSG00000171608 68 0 0.00 53 15 22.06 - - - PLCE1 0 genome.wustl.edu 37 10 95994013 95994013 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 10 95994013 95994013 G A SNP PLCE1 ENST00000371380 human ensembl 69_37n +1 known missense c.2158 p.A720T 0.992 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 59 0 0.00 85 11 11.34 - - - POLQ 0 genome.wustl.edu 37 3 121206799 121206799 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 3 121206799 121206799 G A SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.4979 p.S1660L 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 48 0 0.00 60 7 10.45 - - - PRICKLE3 0 genome.wustl.edu 37 X 49034432 49034432 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 X 49034432 49034432 G A SNP PRICKLE3 ENST00000376317 human ensembl 69_37n -1 known missense c.865 p.R289C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 20 0 0.00 16 9 36.00 - - - PRKDC 0 genome.wustl.edu 37 8 48801132 48801132 + Missense_Mutation SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 8 48801132 48801132 C A SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.4357 p.A1453S 0.994 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 32 0 0.00 41 10 19.61 - - - PROM1 0 genome.wustl.edu 37 4 16040615 16040615 + Frame_Shift_Del DEL C C - TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 4 16040615 16040615 C - DEL PROM1 ENST00000447510 human ensembl 69_37n -1 known frame_shift_del c.230 p.R77fs 0.006 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 41 0 0.00 45 11 19.30 - - - PVRL3 0 genome.wustl.edu 37 3 110841072 110841072 + Missense_Mutation SNP T T G TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 3 110841072 110841072 T G SNP PVRL3 ENST00000485303 human ensembl 69_37n +1 known missense c.904 p.S302A 1.000 pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 42 0 0.00 50 6 10.53 - - - REL 0 genome.wustl.edu 37 2 61149040 61149040 + Silent SNP A A G TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 2 61149040 61149040 A G SNP REL ENST00000295025 human ensembl 69_37n +1 known silent c.1230 p.S410 0.964 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 59 0 0.00 33 6 15.38 - - - SCN5A 0 genome.wustl.edu 37 3 38592337 38592337 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 3 38592337 38592337 C T SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.5526 p.M1842I 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 66 0 0.00 75 11 12.79 - - - SLC16A2 0 genome.wustl.edu 37 X 73751293 73751293 + Nonsense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 X 73751293 73751293 C T SNP SLC16A2 ENST00000276033 human ensembl 69_37n +1 known nonsense c.1747 p.Q583* 0.995 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 60 0 0.00 64 17 20.99 - - - SRCAP 0 genome.wustl.edu 37 16 30749899 30749899 + Silent SNP A A T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 16 30749899 30749899 A T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known silent c.8538 p.G2846 0.421 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 21 0 0.00 11 7 38.89 - - - SRSF11 0 genome.wustl.edu 37 1 70716188 70716188 + Splice_Site SNP T T C TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 1 70716188 70716188 T C SNP SRSF11 ENST00000370950 human ensembl 69_37n +1 known splice_site c.1257+2 e11+2 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 57 0 0.00 56 10 15.15 - - - TAF9 0 genome.wustl.edu 37 5 68661327 68661327 + Missense_Mutation SNP C C A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 5 68661327 68661327 C A SNP TAF9 ENST00000217893 human ensembl 69_37n -1 known missense c.238 p.D80Y 1.000 pfam_TFIID-31,superfamily_Histone-fold pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold - no_errors TAF9 HGNC ENSG00000085231 59 0 0.00 58 17 22.67 - - - TLR3 0 genome.wustl.edu 37 4 187004711 187004711 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 4 187004711 187004711 C T SNP TLR3 ENST00000296795 human ensembl 69_37n +1 known missense c.1871 p.S624F 0.032 smart_Leu-rich_rpt_typical-subtyp 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 TLR3 HGNC ENSG00000164342 41 0 0.00 32 7 17.95 - - - TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 17 7578413 7578413 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.517 p.V173M 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 23 0 0.00 27 10 27.03 - - - TSGA13 0 genome.wustl.edu 37 7 130368439 130368439 + Missense_Mutation SNP C C G TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 7 130368439 130368439 C G SNP TSGA13 ENST00000356588 human ensembl 69_37n -1 known missense c.95 p.S32T 0.000 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 113 0 0.00 124 34 21.52 - - - TTN 0 genome.wustl.edu 37 2 179440959 179440959 + Missense_Mutation SNP C C G TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 2 179440959 179440959 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.62196 p.Q20732H 0.914 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 44 0 0.00 45 15 25.00 - - - TTN 0 genome.wustl.edu 37 2 179587200 179587200 + Silent SNP G G T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 2 179587200 179587200 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.18582 p.L6194 0.980 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 22 0 0.00 25 11 30.56 - - - UNC13D 0 genome.wustl.edu 37 17 73832707 73832707 + Missense_Mutation SNP G G A TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 17 73832707 73832707 G A SNP UNC13D ENST00000412096 human ensembl 69_37n -1 known missense c.1244 p.S415F 0.008 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 21 0 0.00 26 9 25.71 - - - ZNF85 0 genome.wustl.edu 37 19 21132063 21132063 + Missense_Mutation SNP A A G TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5bc549a-1a1f-41b4-b548-14c448fed6c7 2b18b271-9411-4e2a-8f37-1e9cd53bef62 19 21132063 21132063 A G SNP ZNF85 ENST00000328178 human ensembl 69_37n +1 known missense c.743 p.H248R 0.980 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 18 0 0.00 28 9 24.32 - - -